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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
DOCK7_chr1_62449726_62693386	62553340	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03225.hp2 HG03486.hp1 HG00621.hp2 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0134	3	228	0.0132	-31	c.259 others(48): Show c.2597-470_2597-440delAAAAAAAAAAAAAAAAATATATATATAT ATA		DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	21/49					chr1	TogoVar
DOCK7_chr1_62449726_62693386	62553342	ATATATAT others(24): Show ATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp1 HG02145.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0131 a0001c0001t0001g0132	2	228	0.0088	-31	c.259 others(48): Show c.2597-472_2597-442delAAAAAAAAAAAAAAAAAAATATATATAT ATA		DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	21/49					chr1	TogoVar
DPEP1_chr16_89608642_89643433	89635137	CCCTTCCT others(24): Show CCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01167.hp2 others(4): Show HG00323.hp1 HG00642.hp1 HG01167.hp2 HG01192.hp1 HG01361.hp1 HG01993.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0233 a0001c0001t0001g0234 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0244	7	250	0.0280	-31	c.105 others(46): Show c.105-768_105-738delTTCCTTCTCCTTTCCCCTTCCTTCCCTTTC C		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10				INFO_REALIGN_3_PRIME	chr16	TogoVar
DPM3_chr1_155134891_155145531	155143765	GAGGTTGG others(24): Show GAGGTTGGGGTGAAATGACACGGTCTTGGCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	-31	c.-33 others(42): Show c.-3311_-3281delGAGCCAAGACCGTGTCATTTCACCCCAACCT		DPM3	ENSG00000179085.8	transcript	ENST00000368400.5	protein_coding				3235		chr1	TogoVar
DPP10_chr2_114437641_115850780	114834634	AGCCATAT others(24): Show AGCCATATCTACACACCTATGTATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0002 a0003c0003t0003g0002	1	56	0.0179	-31	c.60+ others(50): Show c.60+391825_60+391855delTAGGCCATATCTACACACCTATGTAT ATATA		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25				INFO_REALIGN_3_PRIME	chr2	TogoVar
DPRX_chr19_53626999_53642014	53638138	GCATGGTA others(24): Show GCATGGTAAAACCTCATCTCTACCAAAAACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	478	0.0021	-31	c.11 others(42): Show c.1151_*1181delCATGGTAAAACCTCATCTCTACCAAAAACAT		DPRX	ENSG00000204595.3	transcript	ENST00000376650.2	protein_coding				1125		chr19	TogoVar
DPY19L1_chr7_34923881_35042485	34956947	GTGCAATA others(24): Show GTGCAATACGCTTTTAAAGTCACAGGGAAACT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0202 a0002c0002t0003g0202	1	328	0.0031	-31	c.117 others(50): Show c.1179+1006_1179+1036delAGTTTCCCTGTGACTTTAAAAGCGTA TTGCA		DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	11/21					chr7	TogoVar
DPYD_chr1_97072743_97926034	97724296	GGGGGGGG others(24): Show GGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01257.hp1 others(13): Show HG00099.hp2 HG00735.hp2 HG01257.hp1 HG02132.hp2 HG02165.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03710.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0003c0012 a0007c0008 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0012t0002 a0007c0008t0001 a0007c0008t0002 a0008c0007t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0002g0030 others(13): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0002g0030 a0002c0002t0001g0019 a0002c0002t0003g0018 a0002c0002t0006g0006 a0003c0003t0001g0052 a0003c0003t0002g0007 a0003c0003t0002g0017 a0003c0003t0004g0015 a0003c0003t0004g0016 a0003c0003t0005g0013 a0003c0012t0002g0014 a0007c0008t0001g0040 a0007c0008t0002g0038 a0008c0007t0001g0021	16	52	0.3077	-31	c.322 others(48): Show c.322-2656_322-2626delACACACACACACACACACACCCCCCCCC CCC		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	4/22					chr1	TogoVar
DPYSL4_chr10_132181948_132210759	132205955	GCAGCCAA others(24): Show GCAGCCAACATCCAGGGCGGGACAGAGGCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02145.hp2 HG03927.hp2 HG02056.hp2 HG02145.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0015 a0001c0001t0001 a0001c0012t0015	a0001c0001t0001g0050 a0001c0001t0001g0131 a0001c0012t0015g0072 a0001c0001t0001g0050 a0001c0001t0001g0131 a0001c0012t0015g0072	3	418	0.0072	-31	c.10 others(42): Show c.1026_*1056delCAGCCAACATCCAGGGCGGGACAGAGGCCCC		DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding				197		chr10	TogoVar
DRAM1_chr12_101872580_101928612	101924469	GATCAGAA others(24): Show GATCAGAAATCCAACAAGAAGGAGAAAAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02486.hp1 others(8): Show HG02109.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0019 a0001c0001t0038 others(1): Show a0001c0001t0007 a0001c0001t0019 a0001c0001t0038 a0001c0001t0040	a0001c0001t0007g0080 a0001c0001t0007g0197 a0001c0001t0007g0384 others(8): Show a0001c0001t0007g0080 a0001c0001t0007g0197 a0001c0001t0007g0384 a0001c0001t0007g0385 a0001c0001t0007g0386 a0001c0001t0007g0387 a0001c0001t0007g0390 a0001c0001t0019g0010 a0001c0001t0019g0013 a0001c0001t0038g0014 a0001c0001t0040g0360	11	396	0.0278	-31	c.32 others(42): Show c.3210_*3240delATCAGAAATCCAACAAGAAGGAGAAAAGGGA		DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding				858		chr12	TogoVar
DSTYK_chr1_205137505_205216702	205203507	GGGTAGGG others(24): Show GGGTAGGGAAGGGGAGGGGAGGGGAGGGGTAC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	348	0.0029	-31	c.265 others(48): Show c.265+7733_265+7763delGTACCCCTCCCCTCCCCTCCCCTTCCCT ACC		DSTYK	ENSG00000133059.18	transcript	ENST00000367162.8	protein_coding	1/12					chr1	TogoVar
DXO_chr6_31964815_31977138	31972462	GCGGCGGA others(24): Show GCGGCGGAAGCGAGGGCCTGTGGAGTCGGATC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	433	0.0023	-31	c.-57 others(40): Show c.-571_-541delGATCCGACTCCACAGGCCCTCGCTTCCGCCG		DXO	ENSG00000204348.10	transcript	ENST00000337523.10	protein_coding				325		chr6	TogoVar
DYNC1H1_chr14_101959573_102061443	102046486	AAGCCAGG others(24): Show AAGCCAGGCGAGCTGGGCGGGTCTGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02723.hp1 others(2): Show HG01256.hp2 HG01258.hp1 HG02723.hp1 HG02818.hp2 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0061 a0001c0007t0014 a0001c0007t0061	a0001c0007t0014g0033 a0001c0007t0014g0034 a0001c0007t0014g0075 others(2): Show a0001c0007t0014g0033 a0001c0007t0014g0034 a0001c0007t0014g0075 a0001c0007t0014g0076 a0001c0007t0061g0021	5	280	0.0179	-31	c.130 others(52): Show c.13007-1303_13007-1273delGGAGAGCCAGGCGAGCTGGGCGGG TCTGGAG		DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77				INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC2I2_chr9_128628653_128661847	128656391	AACGGTGG others(24): Show AACGGTGGGACGCCCGAACCCGCCCGGCAGCC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00597.hp1 others(39): Show HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG01069.hp2 HG01099.hp1 HG01167.hp1 HG01256.hp2 HG01496.hp1 HG01891.hp1 HG02080.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03834.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18979.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0013t0001	a0001c0001t0001g0033 a0001c0001t0001g0293 a0001c0001t0001g0294 others(37): Show a0001c0001t0001g0033 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0003t0001g0032 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0003t0002g0314 a0001c0003t0002g0315 a0001c0003t0002g0316 a0001c0003t0002g0317 a0001c0003t0002g0318 a0001c0003t0002g0319 a0001c0003t0002g0320 a0001c0003t0002g0321 a0001c0003t0003g0322 a0001c0003t0003g0323 a0001c0005t0001g0284 a0001c0005t0001g0285 a0001c0005t0001g0295 a0001c0013t0001g0303	42	368	0.1141	-31	c.186 others(46): Show c.186+119_186+149delGGCTGCCGGGCGGGTTCGGGCGTCCCACCG T		DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8					chr9	TogoVar
ECPAS_chr9_111355685_111489383	111403296	GCTGCACT others(24): Show GCTGCACTGAGCTGAGATTGCTGCACTCCAGC	G G	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	354	0.0028	-31	c.265 others(50): Show c.2652+5244_2652+5274delGCTGGAGTGCAGCAATCTCAGCTCAG TGCAG		ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49					chr9	TogoVar
ECSCR_chr5_139443560_139467743	139463247	AGTAATCC others(24): Show AGTAATCCCAGCACTTTGGGAGGCCCACGCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	369	0.0027	-31	c.-60 others(40): Show c.-608_-578delAGGCGTGGGCCTCCCAAAGTGCTGGGATTAC		ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding				505		chr5	TogoVar
EDA_chrX_69611113_70044472	69687648	TCACAAGG others(24): Show TCACAAGGATATACATTAATGTTTTCTTCTAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp2 HG01074.hp1 others(24): Show HG00423.hp1 HG00733.hp2 HG01074.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG01978.hp2 HG01981.hp2 HG02074.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp2 HG03130.hp1 HG03490.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18906.hp2 NA19072.hp1 NA20129.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0004t0001 a0003c0003t0001	a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0113 others(24): Show a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0198 a0001c0001t0002g0004 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0121 a0001c0001t0004g0128 a0001c0001t0005g0120 a0001c0001t0011g0134 a0001c0001t0012g0108 a0001c0001t0015g0119 a0001c0004t0001g0005 a0003c0003t0001g0109	27	226	0.1195	-31	c.396 others(50): Show c.396+70945_396+70975delCACAAGGATATACATTAATGTTTTCT TCTAA		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7					chrX	TogoVar
EDNRA_chr4_147476097_147549954	147540366	TTTTGCTC others(24): Show TTTTGCTCTAGTTTCTTACTGCTCATGGATTA	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0204 a0003c0004t0007g0204	1	280	0.0036	-31	c.103 others(43): Show c.1035-10_1055delTTTGCTCTAGTTTCTTACTGCTCATGGATTA	p.Phe others(13): Show p.Phe346_Tyr352del	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	7/8	1035/1284	345/427			chr4	TogoVar
EFCAB5_chr17_29936634_30113452	30097030	ACATATAC others(24): Show ACATATACATATACATATACATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 HG02559.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0115 a0001c0001t0001g0122	2	248	0.0081	-31	c.432 others(50): Show c.4321+4095_4321+4125delCATATACATATACATATACATATATA TATAT		EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22					chr17	TogoVar
EGLN1_chr1_231358756_231427287	231375307	CAGCCTCC others(24): Show CAGCCTCCCAAAGTGCTGGAATTACAGGCTTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(146): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0010 a0002c0002 others(2): Show a0001c0001 a0001c0010 a0002c0002 a0003c0003 a0008c0009	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0010t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0009 a0002c0002t0012 a0002c0002t0016 a0002c0002t0020 a0003c0003t0001 a0008c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(142): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0209 a0001c0001t0006g0211 a0001c0001t0006g0216 a0001c0001t0006g0302 a0001c0001t0009g0252 a0001c0001t0009g0253 a0001c0001t0009g0257 a0001c0001t0012g0205 a0001c0001t0022g0210 a0001c0001t0024g0261 a0001c0001t0026g0164 a0001c0010t0001g0321 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0006g0055 a0002c0002t0006g0056 a0002c0002t0009g0057 a0002c0002t0012g0051 a0002c0002t0016g0330 a0002c0002t0016g0331 a0002c0002t0020g0028 a0003c0003t0001g0326 a0008c0009t0001g0320	149	338	0.4408	-31	c.892 others(48): Show c.892-1239_892-1209delCAAGCCTGTAATTCCAGCACTTTGGGAG GCT		EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/4					chr1	TogoVar
EIF2AK2_chr2_37094210_37161980	37161289	GAAAGAAA others(24): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0065 a0001c0003t0065	a0001c0003t0065g0295 a0001c0003t0065g0295	1	326	0.0031	-31	c.-45 others(42): Show c.-4596_-4566delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding				4310		chr2	TogoVar
EIF2AK3_chr2_88551741_88632464	88622315	AAAACAAT others(24): Show AAAACAATTTGTAATAAAAATGTATAAGAAGT	A A	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0022	1	366	0.0027	-31	c.308 others(48): Show c.308+4621_308+4651delACTTCTTATACATTTTTATTACAAATTG TTT		EIF2AK3	ENSG00000172071.15	transcript	ENST00000303236.9	protein_coding	1/16					chr2	TogoVar
EIF4A3_chr17_80129369_80152128	80142317	CTCCCATA others(24): Show CTCCCATAGCCCTTATTACAGTCTTATTAAAT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	420	0.0024	-31	c.243 others(46): Show c.243-500_243-470delATTTAATAAGACTGTAATAAGGGCTATGGG A		EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	2/11					chr17	TogoVar
EIF4G1_chr3_184309606_184340353	184329522	AGGAGGCT others(24): Show AGGAGGCTGAGGCAGGAGAATCACTTGACCCG	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	384	0.0026	-31	c.416 others(48): Show c.4161+539_4161+569delTGAGGCAGGAGAATCACTTGACCCGGGA GGC		EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	28/32				INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF4G3_chr1_20801479_21181897	20981555	CATACATA others(24): Show CATACATACATGTATACGCACATACTGTATGT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02258.hp1 HG03239.hp2 others(2): Show HG02132.hp2 HG02258.hp1 HG03239.hp2 HG03490.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0199 others(2): Show a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0199 a0001c0001t0002g0056 a0001c0001t0003g0258	5	312	0.0160	-31	c.199 others(46): Show c.199-359_199-329delACATACAGTATGTGCGTATACATGTATGTA T		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	8/36					chr1	TogoVar
EIF4H_chr7_74169356_74202096	74200161	TGAGGCTA others(24): Show TGAGGCTAGGTACCGTGGTCACGCCTGTAATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	374	0.0027	-31	c.48 others(42): Show c.4854_*4884delGAGGCTAGGTACCGTGGTCACGCCTGTAATC		EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding				3066		chr7	TogoVar
EIPR1_chr2_3183970_3382818	3246981	GGAGGGAG others(24): Show GGAGGGAGGGAGAGAGCGAGGGAGGAGAGAGC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	250	0.0040	-31	c.416 others(50): Show c.416+10287_416+10317delGCTCTCTCCTCCCTCGCTCTCTCCCT CCCTC		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8					chr2	TogoVar
EIPR1_chr2_3183970_3382818	3363288	GATGGAAA others(24): Show GATGGAAAACACAAACCGGGAAGTATTGACAC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	250	0.0040	-31	c.43- others(46): Show c.43-8686_43-8656delGTGTCAATACTTCCCGGTTTGTGTTTTCCA T		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	1/8					chr2	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp2 NA18970.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0067 a0001c0001t0003g0174 a0001c0001t0001g0067 a0001c0001t0003g0174	2	352	0.0057	-31	c.-15 others(50): Show c.-15-17761_-15-17731delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6					chr9	TogoVar
ELSPBP1_chr19_47989632_48030154	48016501	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	388	0.0026	-31	c.355 others(46): Show c.355+466_355+496delTTTCTTTCTTTCTTTCTTTCTTTCTTCCTT C		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6				INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC1_chr1_19210660_19256524	19211458	GGTCTCCC others(24): Show GGTCTCCCTACGTAGCCCAAGCTGTTTTCGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18959.hp1 NA18959.hp2 NA18939.hp2 NA18959.hp1 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0123 a0002c0002t0001g0028 a0002c0002t0001g0077 a0001c0001t0003g0123 a0002c0002t0001g0028 a0002c0002t0001g0077	3	350	0.0086	-31	c.78 others(42): Show c.7814_*7844delTTCGAAAACAGCTTGGGCTACGTAGGGAGAC		EMC1	ENSG00000127463.16	transcript	ENST00000477853.6	protein_coding				4201		chr1	TogoVar
EML4_chr2_42164353_42337548	42173691	AAACAAAA others(24): Show AAACAAAAATAGGCATAGTGGCATGTGCCTGT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0353 a0003c0003t0002g0353	1	358	0.0028	-31	c.25+ others(46): Show c.25+4059_25+4089delAAAAATAGGCATAGTGGCATGTGCCTGTAA C		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22				INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42243400	ATTGTTCT others(24): Show ATTGTTCTTATCATTCCTTAAGCATCTCAGAG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01975.hp1 HG02015.hp1 others(12): Show HG01928.hp2 HG01975.hp1 HG02015.hp1 HG02300.hp1 HG02886.hp1 HG03654.hp1 HG03669.hp2 HG04204.hp2 HG04228.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA19001.hp2 NA19010.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0006 a0001c0009t0002 a0001c0001t0002 a0001c0001t0006 a0001c0009t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0201 others(12): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0239 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0352 a0001c0001t0006g0199 a0001c0009t0002g0198	15	358	0.0419	-31	c.26- others(46): Show c.26-2101_26-2071delTTCTTATCATTCCTTAAGCATCTCAGAGTT G		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22				INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88794079	ATATGAAC others(24): Show ATATGAACCCTTATTGTCTAAAAATTACTGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0131 a0001c0001t0008g0131	1	332	0.0030	-31	c.-16 others(42): Show c.-1607_-1577delAACAGTAATTTTTAGACAATAAGGGTTCATA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding				1127		chr14	TogoVar
EML5_chr14_88607431_88797953	88796735	TATATTAT others(24): Show TATATTATATATATTATATGTTTTATATATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0135 a0001c0001t0030g0135	1	332	0.0030	-31	c.-42 others(42): Show c.-4263_-4233delTAATATATAAAACATATAATATATATAATAT		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding				3783		chr14	TogoVar
EMSY_chr11_76440018_76558031	76494654	CCTTCCTT others(24): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02155.hp1 HG01975.hp2 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0037 a0001c0002t0001g0039	2	360	0.0056	-31	c.115 others(50): Show c.1154-1559_1154-1529delTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTC		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21				INFO_REALIGN_3_PRIME	chr11	TogoVar
ENDOG_chr9_128813500_128827676	128823551	GGCACTAG others(24): Show GGCACTAGCACCCATGGTTGACTCCCAGCTAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0023 a0003c0004t0001g0023	1	420	0.0024	-31	c.94 others(40): Show c.942_*972delGCACTAGCACCCATGGTTGACTCCCAGCTAC		ENDOG	ENSG00000167136.7	transcript	ENST00000372642.5	protein_coding				876		chr9	TogoVar
ENOSF1_chr18_665318_717630	666992	GTGATGGA others(24): Show GTGATGGAGATGGTGATGGTGATGGAGATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0358 a0003c0004t0002g0358	1	418	0.0024	-31	c.72 others(42): Show c.7282_*7312delTCCATCTCCATCACCATCACCATCTCCATCA		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding				3325		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247844	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18962.hp2 NA18978.hp2 others(3): Show HG00609.hp1 NA18962.hp2 NA18978.hp2 NA19004.hp1 NA19062.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0006 a0001c0002t0012	a0001c0001t0002g0031 a0001c0001t0005g0152 a0001c0002t0001g0038 others(3): Show a0001c0001t0002g0031 a0001c0001t0005g0152 a0001c0002t0001g0038 a0001c0002t0006g0154 a0001c0002t0012g0026 a0001c0002t0012g0034	6	188	0.0319	-31	c.161 others(52): Show c.1612-11137_1612-11107delTATATATATATATATATATATATA TATATAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16					chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247846	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp2 HG02615.hp1 others(7): Show HG00639.hp1 HG02109.hp2 HG02615.hp1 HG02809.hp1 HG03209.hp1 NA18954.hp1 NA18961.hp2 NA18964.hp1 NA19081.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0002c0007	a0001c0001t0010 a0001c0001t0033 a0001c0005t0003 others(3): Show a0001c0001t0010 a0001c0001t0033 a0001c0005t0003 a0001c0005t0005 a0001c0008t0002 a0002c0007t0003	a0001c0001t0010g0037 a0001c0001t0010g0086 a0001c0001t0010g0087 others(7): Show a0001c0001t0010g0037 a0001c0001t0010g0086 a0001c0001t0010g0087 a0001c0001t0033g0156 a0001c0005t0003g0052 a0001c0005t0003g0120 a0001c0005t0005g0137 a0001c0005t0005g0138 a0001c0008t0002g0077 a0002c0007t0003g0015	10	188	0.0532	-31	c.161 others(52): Show c.1612-11139_1612-11109delTATATATATATATATATATATATA TATATAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16					chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247848	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0146 a0001c0001t0007g0146	1	188	0.0053	-31	c.161 others(52): Show c.1612-11141_1612-11111delTATATATATATATATATATATATA TATATAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16					chr13	TogoVar
ENOX1_chr13_43208130_43791972	43669486	CCCCTTCC others(24): Show CCCCTTCCTTTTGTGAGAAGAAGGAGCTAAGG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19030.hp2 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0055 a0001c0001t0014g0110 a0001c0001t0003g0055 a0001c0001t0014g0110	2	188	0.0106	-31	c.-28 others(50): Show c.-284-1973_-284-1943delCCTTAGCTCCTTCTTCTCACAAAAGG AAGGG		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16					chr13	TogoVar
ENPP3_chr6_131632302_131752410	131692861	ATATATAT others(24): Show ATATATATGATATATAGTTATATATTATACAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp2 HG02922.hp1 others(10): Show HG02559.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp2 NA18987.hp2 NA19005.hp2 NA19077.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0004 a0001c0001 a0003c0005 a0004c0004	a0001c0001t0001 a0003c0005t0001 a0003c0005t0002 others(1): Show a0001c0001t0001 a0003c0005t0001 a0003c0005t0002 a0004c0004t0001	a0001c0001t0001g0135 a0001c0001t0001g0240 a0001c0001t0001g0258 others(10): Show a0001c0001t0001g0135 a0001c0001t0001g0240 a0001c0001t0001g0258 a0003c0005t0001g0096 a0003c0005t0001g0097 a0003c0005t0001g0184 a0003c0005t0002g0186 a0004c0004t0001g0011 a0004c0004t0001g0026 a0004c0004t0001g0028 a0004c0004t0001g0037 a0004c0004t0001g0173 a0004c0004t0001g0188	13	278	0.0468	-31	c.128 others(48): Show c.1285-543_1285-513delCTATATATGATATATAGTTATATATTAT ACA		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	14/24				INFO_REALIGN_3_PRIME	chr6	TogoVar
EPB41_chr1_28909569_29125041	28927896	GGGGTGGA others(24): Show GGGGTGGAGTAATTGGAGCTCACAGCAAGGAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	312	0.0032	-31	c.-8+ others(48): Show c.-8+13129_-8+13159delGGGTGGAGTAATTGGAGCTCACAGCAAG GAC		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20					chr1	TogoVar
EPB41_chr1_28909569_29125041	28962609	TACTTTCT others(24): Show TACTTTCTGTCTCTGGATTTGACTAGGTTAGA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0275 a0001c0001t0021g0275	1	312	0.0032	-31	c.-7- others(48): Show c.-7-24748_-7-24718delCTGGATTTGACTAGGTTAGAACTTTCTG TCT		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20				INFO_REALIGN_3_PRIME	chr1	TogoVar
EPCAM_chr2_47364311_47392020	47365506	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0363 a0001c0001t0002g0363	1	450	0.0022	-31	c.-39 others(42): Show c.-3999_-3969delTATATATATATATATATATATATATATATTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding				3804		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365508	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18997.hp1 NA18981.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0195 a0001c0001t0002g0231 a0001c0001t0001g0195 a0001c0001t0002g0231	2	450	0.0044	-31	c.-39 others(42): Show c.-3997_-3967delTATATATATATATATATATATATATATTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding				3802		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365510	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02559.hp1 HG02615.hp1 others(8): Show HG01109.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02922.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0178 others(6): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0199	11	450	0.0244	-31	c.-39 others(42): Show c.-3995_-3965delTATATATATATATATATATATATATTTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding				3800		chr2	TogoVar
EPHA10_chr1_37710976_37770120	37753700	GCAGGGGT others(24): Show GCAGGGGTGAGTGGGAGCAGGGGCGAGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0008 a0004c0003t0003g0008	2	382	0.0052	-31	c.100 others(48): Show c.1006+484_1007-475delTCCCGCTCGCCCCTGCTCCCACTCACCC CTG		EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	4/16					chr1	TogoVar
EPHA5_chr4_65314567_65675489	65576038	GAAAGAAA others(24): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18971.hp1 NA18973.hp1 others(4): Show HG02523.hp1 NA18971.hp1 NA18973.hp1 NA19002.hp2 NA19006.hp2 NA19070.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0024 a0001c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002	a0001c0001t0004g0024 a0001c0001t0024g0025 a0001c0001t0024g0026 others(4): Show a0001c0001t0004g0024 a0001c0001t0024g0025 a0001c0001t0024g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0002g0157	7	234	0.0299	-31	c.910 others(50): Show c.910+25572_910+25602delTCTTTTCTTTTCTTTCTTTCTTTCTT TCTTT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16					chr4	TogoVar

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