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
EBF4_chr20_2687780_2765108	2711148	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0238 a0001c0002t0001g0238	1	388	0.0026	15	c.557 others(32): Show c.557+1524_557+1538dupTAATAATAATAATAA	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
EBI3_chr19_4224523_4242528	4236518	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19030.hp1 HG01891.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	438	0.0046	15	c.538 others(30): Show c.538-407_538-393dupAAAAAAAAAAAAAAA	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
EBNA1BP2_chr1_43159184_43177290	43163613	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG01169.hp2 others(10): Show HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG02602.hp1 HG02738.hp2 HG03540.hp1 HG03942.hp2 HG04199.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0004g0013 a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0004g0013	13	392	0.0332	15	c.82 others(24): Show c.829_*830insTTTTTTTTTTTTTTT	EBNA1BP2	ENSG00000117395.13	transcript	ENST00000236051.3	protein_coding		570		chr1	TogoVar
EBPL_chr13_49655674_49696486	49666044	A A	ACACACTG others(8): Show ACACACTGTGGCCCGG	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	410	0.0024	15	c.242 others(32): Show c.242-2864_242-2850dupCCGGGCCACAGTGTG	EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	2/3			chr13	TogoVar
ECE1_chr1_21212250_21295463	21281191	G G	GAAAACAA others(8): Show GAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG03225.hp1 HG01109.hp2 HG02280.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0014 a0001c0002t0004 a0001c0002t0014	a0001c0002t0004g0084 a0001c0002t0014g0229 a0001c0002t0014g0230 a0001c0002t0004g0084 a0001c0002t0014g0229 a0001c0002t0014g0230	3	304	0.0099	15	c.139 others(32): Show c.139-1874_139-1860dupGTTTTGTTTTGTTTT	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	2/18			chr1	TogoVar
ECHDC1_chr6_127283712_127348609	127307648	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(60): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01981.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18946.hp1 NA18960.hp2 NA18978.hp1 NA18982.hp1 NA19030.hp2 NA19043.hp1 NA19081.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0011 a0001c0001t0002g0033 a0001c0001t0002g0034 others(54): Show a0001c0001t0002g0011 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0298 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0201	63	358	0.1760	15	c.497 others(32): Show c.497+7167_497+7168insTTTTTTTTTTTTTTT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	5/5			chr6	TogoVar
ECHDC3_chr10_11737382_11769070	11742311	G G	GGGGGCGG others(8): Show GGGGGCGGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0006 a0003c0015t0006	a0003c0015t0006g0219 a0003c0015t0006g0219	1	420	0.0024	15	c.-26 others(24): Show c.-266_-265insGGGGCGGGGCGGGGC	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		70		chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11742350	C C	CCGGGGCG others(8): Show CCGGGGCGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0193 a0001c0005t0001g0193	1	420	0.0024	15	c.-22 others(24): Show c.-227_-226insCGGGGCGGGGCGGGG	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		31		chr10	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0048 a0003c0004t0002g0048	1	400	0.0025	15	c.-28 others(32): Show c.-28+3917_-28+3918insAAAAAAAAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533322	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	400	0.0025	15	c.-28 others(32): Show c.-28+2610_-28+2611insATATATATATATATA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02523.hp1 NA18974.hp1 HG00597.hp2 HG02523.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0271 a0001c0001t0001g0032 a0001c0001t0001g0271	3	400	0.0075	15	c.-28 others(32): Show c.-28+2604_-28+2605insATATATATATTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	400	0.0025	15	c.-28 others(32): Show c.-28+2604_-28+2605insATATATATATATTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407403	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	354	0.0028	15	c.265 others(34): Show c.2652+1153_2652+1167dupTTTTTTTTTTTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106067058	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0194 a0002c0004t0001g0194	1	434	0.0023	15	c.79+ others(30): Show c.79+1215_79+1216insGGGGGGGGGGGGGGG	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3			chr2	TogoVar
ECRG4_chr2_106060688_106083155	106067059	C C	CGGGGCGG others(8): Show CGGGGCGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	434	0.0023	15	c.79+ others(30): Show c.79+1220_79+1221insCGGGGGGGGGGGGGG	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECRG4_chr2_106060688_106083155	106067059	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	434	0.0023	15	c.79+ others(30): Show c.79+1218_79+1232dupGGGGGGGGGGGGGGG	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECSCR_chr5_139443560_139467743	139458500	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18974.hp2 HG02280.hp1 NA18974.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0141 a0002c0002t0001g0140 a0001c0001t0001g0141 a0002c0002t0001g0140	2	369	0.0054	15	c.62- others(28): Show c.62-332_62-318dupTTTTTTTTTTTTTTT	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	1/9			chr5	TogoVar
ECSCR_chr5_139443560_139467743	139458500	C C	CAACAACA others(8): Show CAACAACAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	369	0.0027	15	c.62- others(28): Show c.62-318_62-317insTTTTTTTTTGTTGTT	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	1/9			chr5	TogoVar
ECSIT_chr19_11500929_11534134	11508383	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp1 HG02717.hp1 others(8): Show HG02055.hp1 HG02615.hp1 HG02717.hp1 HG02886.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0109 others(7): Show a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0002g0016 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056	11	312	0.0353	15	c.739 others(30): Show c.739-350_739-336dupAAAAAAAAAAAAAAA	ECSIT	ENSG00000130159.15	transcript	ENST00000270517.12	protein_coding	4/7			chr19	TogoVar
ECT2L_chr6_138791087_138909070	138890492	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	326	0.0031	15	c.241 others(34): Show c.2414+1475_2414+1489dupTTTTTTTTTTTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138907313	A A	AAGTGTGT others(8): Show AAGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01361.hp1 others(17): Show HG00099.hp1 HG00741.hp1 HG01361.hp1 HG01515.hp2 HG01952.hp1 HG01975.hp1 HG02165.hp1 HG02257.hp1 HG02451.hp2 HG03139.hp2 NA18942.hp2 NA18951.hp2 NA18954.hp2 NA18957.hp2 NA18968.hp1 NA19005.hp2 NA19056.hp2 NA19072.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0034 a0002c0002 others(2): Show a0001c0001 a0001c0034 a0002c0002 a0003c0004 a0006c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0034t0023 a0002c0002t0007 a0002c0002t0008 a0002c0002t0019 a0003c0004t0011 a0006c0011t0021	a0001c0001t0002g0035 a0001c0001t0002g0068 a0001c0001t0002g0203 others(17): Show a0001c0001t0002g0035 a0001c0001t0002g0068 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0137 a0001c0001t0003g0141 a0001c0001t0003g0215 a0001c0001t0003g0230 a0001c0001t0005g0289 a0001c0001t0005g0294 a0001c0034t0023g0016 a0002c0002t0007g0288 a0002c0002t0008g0119 a0002c0002t0008g0120 a0002c0002t0008g0153 a0002c0002t0019g0167 a0003c0004t0011g0325 a0006c0011t0021g0236	20	326	0.0614	15	c.46 others(26): Show c.4686_*4687insAGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding		3244		chr6	TogoVar
EDARADD_chr1_236389286_236489930	236390941	G G	GTTATTAT others(8): Show GTTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(115): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18953.hp2 NA18960.hp1 NA18970.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18987.hp1 NA18987.hp2 NA18995.hp2 NA18998.hp1 NA19004.hp2 NA19009.hp1 NA19043.hp2 NA19062.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19082.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0027 a0001c0003t0004 a0001c0004t0005 a0001c0008t0001 a0002c0002t0011 a0003c0006t0001	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 others(115): Show a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0174 a0001c0001t0002g0185 a0001c0001t0002g0212 a0001c0001t0003g0052 a0001c0001t0003g0102 a0001c0001t0003g0128 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0189 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0219 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0080 a0001c0001t0004g0082 a0001c0001t0004g0091 a0001c0001t0004g0104 a0001c0001t0004g0111 a0001c0001t0004g0122 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0211 a0001c0001t0005g0123 a0001c0001t0005g0176 a0001c0001t0009g0101 a0001c0001t0009g0107 a0001c0001t0012g0053 a0001c0001t0012g0116 a0001c0001t0012g0119 a0001c0001t0013g0078 a0001c0001t0013g0142 a0001c0001t0013g0204 a0001c0001t0022g0057 a0001c0001t0027g0188 a0001c0003t0004g0028 a0001c0004t0005g0044 a0001c0004t0005g0054 a0001c0004t0005g0060 a0001c0004t0005g0074 a0001c0004t0005g0077 a0001c0004t0005g0092 a0001c0004t0005g0100 a0001c0004t0005g0134 a0001c0004t0005g0175 a0001c0004t0005g0191 a0001c0004t0005g0196 a0001c0004t0005g0197 a0001c0004t0005g0199 a0001c0004t0005g0202 a0001c0008t0001g0065 a0001c0008t0001g0195 a0002c0002t0011g0284 a0003c0006t0001g0179 a0003c0006t0001g0190 a0003c0006t0001g0203 a0003c0006t0001g0215	118	294	0.4014	15	c.-35 others(26): Show c.-3504_-3503insTTATTATTATTATTA	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding		3344		chr1	TogoVar
EDARADD_chr1_236389286_236489930	236390959	A A	ATTATTAT others(8): Show ATTATTATTATTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	294	0.0034	15	c.-34 others(26): Show c.-3486_-3485insTTATTATTATTATTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding		3326		chr1	TogoVar
EDARADD_chr1_236389286_236489930	236393391	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02886.hp2 HG01981.hp1 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0276 a0002c0002t0001g0288 a0002c0002t0001g0276 a0002c0002t0001g0288	2	294	0.0068	15	c.-10 others(26): Show c.-1054_-1053insTTTTTTTTTTTTTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding		894		chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(8): Show CTTCCTTCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0237 a0002c0002t0001g0237	1	294	0.0034	15	c.62- others(30): Show c.62-3339_62-3338insCTTCTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447233	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03130.hp1 HG01106.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0256 a0002c0002t0001g0258	2	294	0.0068	15	c.219 others(34): Show c.219+19783_219+19784insTTTCTTTCTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5			chr1	TogoVar
EDAR_chr2_108889471_108994220	108932528	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0103 a0001c0002t0012g0103	1	226	0.0044	15	c.-18 others(32): Show c.-18-1511_-18-1497dupTTTTTTTTTTTTTTT	EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding	1/11			chr2	TogoVar
EDA_chrX_69611113_70044472	69777142	G G	GTGTTGTT others(8): Show GTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02572.hp1 HG00741.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0204 a0001c0001t0001g0220	2	226	0.0089	15	c.396 others(36): Show c.396+160439_396+160440insGTTGTTGTTGTTGTT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDDM13_chr19_56267748_56315454	56302595	T T	TCCCTCTT others(8): Show TCCCTCTTCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18982.hp1 NA18906.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0330 a0001c0001t0001g0058 a0001c0001t0001g0330	2	396	0.0051	15	c.423 others(30): Show c.423+514_423+515insCCCCTCTTCTTCCTC	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDIL3_chr5_83935554_84389880	83984474	A A	AGGATTGT others(8): Show AGGATTGTGGTCCTAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0050 a0001c0001t0018g0050	1	158	0.0063	15	c.113 others(36): Show c.1138-21115_1138-21114insGTAGGACCACAATCC	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84006103	T T	TAATAATA others(8): Show TAATAATAATAATAAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp2 HG02145.hp1 others(4): Show HG00741.hp1 HG01891.hp2 HG02145.hp1 HG02615.hp2 HG03041.hp2 HG03130.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001	a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0004g0055 others(4): Show a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0004g0055 a0001c0001t0004g0124 a0001c0001t0005g0148 a0001c0003t0001g0058 a0001c0003t0001g0150	7	158	0.0443	15	c.113 others(36): Show c.1138-42744_1138-42743insGTTATTATTATTATT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84027546	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(23): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp2 HG01993.hp1 HG02071.hp2 HG02083.hp1 HG02486.hp1 HG02970.hp1 HG03130.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG04184.hp1 NA18946.hp1 NA18969.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 a0002c0006t0002	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0035 others(23): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0147 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0098 a0001c0001t0003g0036 a0001c0001t0003g0063 a0001c0001t0003g0095 a0001c0001t0003g0103 a0001c0001t0003g0133 a0001c0001t0003g0138 a0001c0001t0004g0004 a0001c0001t0004g0020 a0001c0001t0004g0079 a0001c0001t0004g0086 a0001c0001t0004g0128 a0001c0001t0005g0107 a0001c0001t0007g0038 a0001c0001t0020g0158 a0002c0006t0002g0037	26	158	0.1646	15	c.113 others(36): Show c.1137+32739_1137+32753dupTAAAATAAAATAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84080298	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01175.hp1 HG01243.hp2 others(7): Show HG01123.hp1 HG01175.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp1 HG02109.hp2 HG02486.hp2 HG03486.hp1 NA18946.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0002t0007 a0001c0003t0003	a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0003g0114 others(7): Show a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0003g0114 a0001c0001t0004g0086 a0001c0001t0004g0118 a0001c0001t0004g0128 a0001c0001t0012g0002 a0001c0001t0018g0050 a0001c0002t0007g0057 a0001c0003t0003g0073	10	158	0.0633	15	c.652 others(34): Show c.652-13707_652-13693dupTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	6/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84160744	T T	TCTTTCCT others(8): Show TCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp1 HG01433.hp2 HG00423.hp2 HG00741.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0002g0027 a0001c0001t0002g0034 a0001c0001t0001g0069 a0001c0001t0002g0027 a0001c0001t0002g0034	3	158	0.0190	15	c.355 others(34): Show c.355+19634_355+19648dupGAAAGGAAAGGAAAG	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84176181	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG00639.hp1 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0153 a0001c0001t0003g0122 a0001c0001t0003g0153	2	158	0.0127	15	c.355 others(32): Show c.355+4211_355+4212insATATATATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG01261.hp1 others(11): Show HG00280.hp1 HG00558.hp2 HG01261.hp1 HG01433.hp2 HG01891.hp2 HG02015.hp1 HG02109.hp1 HG02280.hp2 HG02523.hp2 HG03471.hp1 HG03831.hp1 NA18946.hp2 NA18957.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0008 a0001c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0002g0007 others(11): Show a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0042 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0125 a0001c0001t0004g0022 a0001c0002t0008g0005 a0001c0003t0001g0083	14	158	0.0886	15	c.196 others(32): Show c.196+1576_196+1590dupTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG02970.hp1 HG00642.hp2 HG00741.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0035 a0001c0001t0002g0034 a0001c0001t0007g0038 a0001c0001t0001g0035 a0001c0001t0002g0034 a0001c0001t0007g0038	3	158	0.0190	15	c.68- others(30): Show c.68-8462_68-8448dupAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDN1_chr6_12285361_12302194	12287688	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	452	0.0022	15	c.-29 others(26): Show c.-2942_-2941insTCTCTCTCTCTCTCT	EDN1	ENSG00000078401.7	transcript	ENST00000379375.6	protein_coding		2672		chr6	TogoVar
EDN3_chr20_59295611_59330992	59306595	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03486.hp2 HG02055.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0210 a0001c0001t0001g0178 a0001c0001t0001g0210	2	398	0.0050	15	c.365 others(32): Show c.365+4883_365+4897dupAAAAAAAAAAAAAAA	EDN3	ENSG00000124205.18	transcript	ENST00000337938.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
EDNRA_chr4_147476097_147549954	147505326	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0097 a0001c0002t0023g0097	1	280	0.0036	15	c.421 others(34): Show c.421-14525_421-14524insTTTTTTTTTTTTTTT	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	2/7			chr4	TogoVar
EDNRA_chr4_147476097_147549954	147532325	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02630.hp1 others(3): Show HG02257.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0010 a0001c0002t0033 a0001c0002t0007 a0001c0002t0010 a0001c0002t0033	a0001c0002t0007g0222 a0001c0002t0010g0006 a0001c0002t0010g0127 others(2): Show a0001c0002t0007g0222 a0001c0002t0010g0006 a0001c0002t0010g0127 a0001c0002t0010g0128 a0001c0002t0033g0013	6	280	0.0214	15	c.549 others(30): Show c.549-170_549-156dupAAAAAAAAAAAAAAA	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
EEA1_chr12_92765637_92934295	92835400	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0157 a0001c0012t0006g0157	1	244	0.0041	15	c.916 others(32): Show c.916-2565_916-2551dupAAAAAAAAAAAAAAA	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	10/28			chr12	TogoVar
EEA1_chr12_92765637_92934295	92922959	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02451.hp2 others(5): Show HG02055.hp1 HG02257.hp2 HG02451.hp2 HG02622.hp1 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG02970.hp1	a0002 a0008 a0002 a0008	a0002c0004 a0002c0017 a0008c0014 a0002c0004 a0002c0017 a0008c0014	a0002c0004t0015 a0002c0004t0018 a0002c0004t0031 others(2): Show a0002c0004t0015 a0002c0004t0018 a0002c0004t0031 a0002c0017t0034 a0008c0014t0006	a0002c0004t0015g0198 a0002c0004t0015g0203 a0002c0004t0015g0213 others(5): Show a0002c0004t0015g0198 a0002c0004t0015g0203 a0002c0004t0015g0213 a0002c0004t0018g0210 a0002c0004t0018g0211 a0002c0004t0031g0199 a0002c0017t0034g0016 a0008c0014t0006g0204	8	244	0.0328	15	c.24+ others(30): Show c.24+6069_24+6083dupATTTTATTTTATTTT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28			chr12	TogoVar
EEF1A1_chr6_73510750_73526032	73524789	T T	TATATATA others(8): Show TATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG06807.hp1 NA18980.hp2 others(1): Show HG02074.hp2 HG06807.hp1 NA18980.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0016 a0001c0001t0003 a0001c0003t0016	a0001c0001t0003g0003 a0001c0003t0016g0020 a0001c0001t0003g0003 a0001c0003t0016g0020	4	424	0.0094	15	c.-38 others(26): Show c.-3821_-3820insTATATATATATATAT	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3758		chr6	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20747462	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp1 HG02615.hp2 others(1): Show HG01106.hp2 HG02109.hp1 HG02615.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0159 a0001c0001t0001g0172 others(1): Show a0001c0001t0001g0138 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0177	4	348	0.0115	15	c.145 others(32): Show c.145-9672_145-9658dupAAAAAAAAAAAAAAA	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	2/4			chr13	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20764917	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	348	0.0029	15	c.-19 others(32): Show c.-19-7301_-19-7300insGTGTGTGTGTGTGTG	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	1/4			chr13	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769218	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0291 a0001c0001t0005g0291	1	358	0.0028	15	c.400 others(32): Show c.400-3625_400-3611dupTTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769218	C C	CACAAAAA others(8): Show CACAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01517.hp2 HG01952.hp1 others(15): Show HG00735.hp2 HG01517.hp2 HG01952.hp1 HG02015.hp1 HG02129.hp1 HG02165.hp1 HG02698.hp2 HG02717.hp2 HG03098.hp2 HG03139.hp2 NA18960.hp2 NA18984.hp2 NA18998.hp1 NA19000.hp1 NA19011.hp2 NA19065.hp2 NA19067.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0001c0001t0001 a0002c0002t0001 a0002c0002t0007	a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0093 others(15): Show a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0002c0002t0001g0007 a0002c0002t0007g0013	18	358	0.0503	15	c.400 others(32): Show c.400-3611_400-3610insTTTTTTTTTTTTTGT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124792504	G G	GTTTGTTT others(8): Show GTTTGTTTTGTTTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0017 a0001c0001t0018g0017	1	358	0.0028	15	c.-67 others(24): Show c.-672_-671insACAAAACAAAACAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding		618		chr10	TogoVar
EEF1AKMT3_chr12_57767614_57787541	57778293	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp1 HG02897.hp1 others(1): Show HG02818.hp1 HG02895.hp1 HG02897.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0012 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0012 a0001c0002t0014	a0001c0001t0002g0099 a0001c0001t0009g0079 a0001c0002t0012g0036 others(1): Show a0001c0001t0002g0099 a0001c0001t0009g0079 a0001c0002t0012g0036 a0001c0002t0014g0036	4	362	0.0111	15	c.290 others(32): Show c.290-1961_290-1947dupTTTTTTTTTTTTTTT	EEF1AKMT3	ENSG00000123427.17	transcript	ENST00000300209.13	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar

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