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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EEF1AKMT2_chr10_124752834_124796887	124769218	C C	CACAAAAA others(24): Show CACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0062 a0001c0001t0002g0078 a0001c0001t0006g0036 a0001c0001t0002g0062 a0001c0001t0002g0078 a0001c0001t0006g0036	3	358	0.0084	31	c.400 others(48): Show c.400-3611_400-3610insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	358	0.0028	31	c.400 others(48): Show c.400-3626_400-3625insATATATATATTTTTTTTTTTTTTTTTTT TTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19005.hp1 NA18975.hp1 NA19005.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0002 a0001c0001t0001 a0004c0006t0002	a0001c0001t0001g0167 a0004c0006t0002g0044 a0001c0001t0001g0167 a0004c0006t0002g0044	2	358	0.0056	31	c.400 others(48): Show c.400-3626_400-3625insATATATATATATTTTTTTTTTTTTTTTT TTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0032 a0001c0001t0017g0032	1	358	0.0028	31	c.400 others(48): Show c.400-3626_400-3625insATATATATATATATTTTTTTTTTTTTTT TTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	358	0.0028	31	c.400 others(48): Show c.400-3626_400-3625insATATATATATATATATTTTTTTTTTTTT TTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	358	0.0028	31	c.291 others(46): Show c.291+332_291+333insTATATATATATATATATATATATATATATA T	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128152894	A A	ACGCCCCC others(24): Show ACGCCCCCCCCCCGCCCCCCATCCTACCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	272	0.0037	31	c.-61 others(40): Show c.-614_-613insCGCCCCCCCCCCGCCCCCCATCCTACCCCCC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		586		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152894	A A	ACGCCCCC others(24): Show ACGCCCCCCCCCGCCCCCCATCCTACCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00673.hp2 others(14): Show HG00140.hp1 HG00438.hp1 HG00673.hp2 HG01099.hp1 HG01243.hp1 HG01433.hp1 HG02071.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02280.hp2 HG02809.hp2 HG03942.hp1 NA19000.hp1 NA19067.hp2 NA19068.hp2 NA19078.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0004 a0001c0001 a0002c0005 a0003c0004	a0001c0001t0001 a0002c0005t0003 a0003c0004t0001 a0001c0001t0001 a0002c0005t0003 a0003c0004t0001	a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0069 others(14): Show a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0161 a0001c0001t0001g0269 a0001c0001t0001g0270 a0002c0005t0003g0049 a0003c0004t0001g0213	17	272	0.0625	31	c.-61 others(40): Show c.-614_-613insCGCCCCCCCCCGCCCCCCATCCTACCCCCCC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		586		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152894	A A	ACGCCCCC others(24): Show ACGCCCCCCCCCGCCCCCCCATCCTACCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	272	0.0037	31	c.-61 others(40): Show c.-614_-613insCGCCCCCCCCCGCCCCCCCATCCTACCCCCC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		586		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152895	C C	CGCCCCCC others(24): Show CGCCCCCCCCCCGCCCCCCATCCTACCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01074.hp2 HG01081.hp2 others(10): Show HG00323.hp2 HG01074.hp2 HG01081.hp2 HG02165.hp2 HG02602.hp2 HG02698.hp2 HG03834.hp2 NA18952.hp2 NA18969.hp2 NA18982.hp2 NA19011.hp2 NA19065.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0227 others(10): Show a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0265	13	272	0.0478	31	c.-61 others(40): Show c.-613_-612insGCCCCCCCCCCGCCCCCCATCCTACCCCCCA	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		585		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152896	G G	GCCCCCCC others(24): Show GCCCCCCCCCGCCCCCCATCCTACCCCCCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	272	0.0037	31	c.-61 others(40): Show c.-612_-611insCCCCCCCCCGCCCCCCATCCTACCCCCCCGT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		584		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152896	G G	GCCCCCCC others(24): Show GCCCCCCCCGCCCCCCATCCTACCCCCCCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0148 a0001c0010t0001g0148	1	272	0.0037	31	c.-61 others(40): Show c.-612_-611insCCCCCCCCGCCCCCCATCCTACCCCCCCCGT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		584		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCCGCCCC others(24): Show CCCGCCCCCCCCCGCCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01433.hp2 HG00597.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0195 a0001c0001t0001g0155 a0001c0001t0001g0195	2	272	0.0074	31	c.-51 others(40): Show c.-517_-516insCCGCCCCCCCCCGCCCCCCCCCGCCCCCCTT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	342	0.0029	31	c.-55 others(42): Show c.-5527_-5526insTATATATATATATATATATATATATATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(24): Show TATATATATATATATATATATATATATACGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	342	0.0029	31	c.-55 others(42): Show c.-5540_-5539insTTCGTATATATATATATATATATATATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EEIG2_chr1_108555100_108644322	108579796	A A	AGAGAGAG others(24): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	272	0.0037	31	c.137 others(50): Show c.137+19231_137+19232insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10			chr1	TogoVar
EEPD1_chr7_36148254_36306538	36183888	T T	TTTTTTTT others(24): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03492.hp1 HG01358.hp1 HG03492.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0007 a0003c0002t0007	a0003c0002t0007g0043 a0003c0002t0007g0055 a0003c0002t0007g0043 a0003c0002t0007g0055	2	346	0.0058	31	c.878 others(50): Show c.878+28686_878+28687insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	428	0.0023	31	c.107 others(46): Show c.107-670_107-669insATATATATATATATATATATATTTTTTTTT T	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	428	0.0023	31	c.107 others(46): Show c.107-670_107-669insATATATATATATATATATATATATTTTTTT T	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89929031	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0026 a0001c0002t0031g0026	1	284	0.0035	31	c.410 others(48): Show c.410+2509_410+2510insAAATATATATATATATATATATATATAT ATA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47325937	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0075 a0005c0005t0001g0075	1	356	0.0028	31	c.-24 others(48): Show c.-247-264_-247-263insTATATCATATATATATATATATATATAT ATA	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB3_chr17_62375553_62421480	62400839	C C	CTACACAG others(24): Show CTACACAGTGTAAAAGTGTAAAACTACAGTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18978.hp2 NA19043.hp1 HG04228.hp2 NA18978.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0060 a0001c0001t0001g0127 a0002c0002t0001g0243 a0001c0001t0001g0060 a0001c0001t0001g0127 a0002c0002t0001g0243	3	368	0.0082	31	c.489 others(48): Show c.489-5622_489-5592dupAAAACTACAGTTTTACACAGTGTAAAAG TGT	EFCAB3	ENSG00000172421.10	transcript	ENST00000305286.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFHB_chr3_19874472_19939217	19934319	C C	CTCTCTCT others(24): Show CTCTCTCTCTCTCCCCTCTTCTCTCTCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0170 a0004c0005t0001g0170	1	344	0.0029	31	c.-33 others(40): Show c.-332_-302dupCAGAGGAGAGAGAAGAGGGGAGAGAGAGAGA	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding		103		chr3	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG03139.hp2 HG02738.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0006 a0003c0004t0008 a0001c0001t0006 a0003c0004t0008	a0001c0001t0006g0144 a0003c0004t0008g0148 a0001c0001t0006g0144 a0003c0004t0008g0148	2	412	0.0049	31	c.72 others(42): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18959.hp1 HG00741.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0010 a0001c0001t0003 a0001c0003t0010	a0001c0001t0003g0106 a0001c0003t0010g0105 a0001c0001t0003g0106 a0001c0003t0010g0105	2	306	0.0065	31	c.7+4 others(44): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFR_chr7_55014017_55216628	55172491	T T	TGCTCATC others(24): Show TGCTCATCTTAAAAGCCAAGGACCCAGAGGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0206 a0001c0043t0001g0206	1	250	0.0040	31	c.192 others(48): Show c.1920-491_1920-461dupGCTCATCTTAAAAGCCAAGGACCCAGAG GAG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGF_chr4_109907883_110018766	109932376	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0003 a0008c0008t0003	a0008c0008t0003g0355 a0008c0008t0003g0355	1	388	0.0026	31	c.128 others(48): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA AAA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109932377	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0365 a0001c0001t0004g0365	1	388	0.0026	31	c.128 others(48): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA TAT	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01891.hp2 HG02129.hp2 others(1): Show HG00408.hp1 HG01891.hp2 HG02129.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 others(1): Show a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112	4	418	0.0096	31	c.119 others(48): Show c.119-1910_119-1909insATATATATATATATATATTTTTTTTTTT TTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02004.hp2 HG02293.hp1 others(3): Show HG01081.hp1 HG02004.hp2 HG02293.hp1 NA18941.hp2 NA19062.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0025 a0001c0001t0002g0083 a0001c0001t0002g0084 others(3): Show a0001c0001t0002g0025 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0002t0001g0174	6	418	0.0144	31	c.119 others(48): Show c.119-1910_119-1909insATATATATATATATATATATTTTTTTTT TTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18985.hp1 HG00673.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0068 a0001c0001t0002g0069	2	418	0.0048	31	c.119 others(48): Show c.119-1910_119-1909insATATATATATATATATATATATTTTTTT TTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	418	0.0024	31	c.119 others(48): Show c.119-1910_119-1909insATATATATATATATATATATATATTTTT TTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2B2_chr14_74997921_75017366	75004689	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0087 a0001c0001t0008g0087	1	326	0.0031	31	c.434 others(44): Show c.434-47_434-46insATATATATATATATATATATATATTTTTTTT	EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	322	0.0031	31	c.295 others(50): Show c.295-10290_295-10289insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG02015.hp1 others(5): Show HG00280.hp2 HG00544.hp2 HG02015.hp1 HG02129.hp1 HG02738.hp1 NA18962.hp1 NA19063.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 others(5): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043	8	322	0.0248	31	c.-10 others(48): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18984.hp2 HG01192.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0272 a0001c0001t0001g0273	2	318	0.0063	31	c.580 others(48): Show c.580-1517_580-1516insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF3M_chr11_32578831_32611264	32606278	T T	TCATTTAT others(24): Show TCATTTATAACAGAGGTTGATAAACTTTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0007 a0001c0001t0020g0007	1	344	0.0029	31	c.38 others(42): Show c.3879_*3880insCATTTATAACAGAGGTTGATAAACTTTTTCC	EIF3M	ENSG00000149100.13	transcript	ENST00000531120.6	protein_coding		15		chr11	TogoVar
EIF4A3_chr17_80129369_80152128	80145768	G G	GCCCCCCC others(24): Show GCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	420	0.0024	31	c.169 others(48): Show c.169+1024_169+1025insGGGGGGGGGGGGGGGGGAGGGGGGGGGG GGG	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/11			chr17	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	372	0.0027	31	c.979 others(48): Show c.979+2250_979+2251insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	366	0.0027	31	c.299 others(46): Show c.299-733_299-732insATATATATATATATATATATATTTTTTTTT T	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0295 a0001c0003t0001g0295	1	366	0.0027	31	c.299 others(46): Show c.299-733_299-732insATATATATATATATATATATATATTTTTTT T	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20981712	T T	TACATACA others(24): Show TACATACATGTATACGCACATACTGTATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0110 a0001c0002t0001g0116	2	312	0.0064	31	c.199 others(46): Show c.199-516_199-486dupGTATATACAGTATGTGCGTATACATGTATG T	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	8/36			chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0083 a0002c0005t0016g0083	1	230	0.0044	31	c.154 others(50): Show c.154-17832_154-17831insATATATATATATATTTTTTTTTTTTT TTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86950435	G G	GCTGTAAC others(24): Show GCTGTAACAGCCTCTTTGGGGCTCTGTAGTTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	196	0.0051	31	c.311 others(48): Show c.311-2544_311-2514dupGAACTACAGAGCCCCAAAGAGGCTGTTA CAG	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	2/21			chr7	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(24): Show TCCAGTCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18988.hp2 NA19066.hp1 others(1): Show NA18945.hp1 NA18988.hp2 NA19066.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0274 a0001c0001t0001g0325 a0001c0001t0001g0328 others(1): Show a0001c0001t0001g0274 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0006g0001	4	342	0.0117	31	c.238 others(50): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGAG ACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF5_chr11_34473791_34518794	34484481	A A	ATACTATC others(24): Show ATACTATCCTATCCTATCCTATCCTATACTAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01496.hp2 NA19078.hp2 HG00609.hp2 HG01496.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0221 a0001c0001t0002g0305 a0001c0001t0002g0062 a0001c0001t0002g0221 a0001c0001t0002g0305	3	436	0.0069	31	c.407 others(48): Show c.407-1983_407-1982insATAGTATAGGATAGGATAGGATAGGATA GTA	ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding	4/6			chr11	TogoVar
ELF5_chr11_34473791_34518794	34484481	A A	ATACTATC others(24): Show ATACTATCCTATCCTATCCTATCCTATCCTAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	436	0.0023	31	c.407 others(48): Show c.407-1983_407-1982insATAGGATAGGATAGGATAGGATAGGATA GTA	ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding	4/6			chr11	TogoVar
ELFN1_chr7_1665277_1752946	1675027	T T	TCCCCACA others(24): Show TCCCCACACCTCATATCCGGGCTCAGCTGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(166): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19030.hp2 NA19055.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0009 a0010 a0012 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0004 others(15): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0001c0014 a0001c0021 a0002c0003 a0002c0024 a0003c0006 a0004c0009 a0009c0015 a0010c0016 a0012c0019 a0013c0017 a0014c0022 a0015c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0033 a0001c0001t0035 a0001c0001t0038 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0060 a0001c0001t0064 a0001c0001t0065 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0018 a0001c0002t0027 a0001c0002t0030 a0001c0002t0031 a0001c0004t0034 a0001c0004t0061 a0001c0005t0010 a0001c0007t0005 a0001c0011t0034 a0001c0014t0001 a0001c0021t0023 a0002c0003t0003 a0002c0003t0006 a0002c0003t0024 a0002c0003t0050 a0002c0024t0030 a0003c0006t0016 a0004c0009t0001 a0009c0015t0032 a0010c0016t0001 a0012c0019t0001 a0013c0017t0001 a0014c0022t0001 a0015c0023t0003	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(166): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0125 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0192 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0002g0112 a0001c0001t0002g0198 a0001c0001t0002g0209 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0003g0016 a0001c0001t0003g0024 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0186 a0001c0001t0003g0300 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0301 a0001c0001t0005g0027 a0001c0001t0005g0048 a0001c0001t0005g0136 a0001c0001t0005g0150 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0294 a0001c0001t0006g0028 a0001c0001t0006g0128 a0001c0001t0006g0291 a0001c0001t0007g0273 a0001c0001t0008g0010 a0001c0001t0008g0021 a0001c0001t0008g0123 a0001c0001t0008g0131 a0001c0001t0008g0193 a0001c0001t0009g0043 a0001c0001t0009g0044 a0001c0001t0009g0119 a0001c0001t0009g0120 a0001c0001t0009g0121 a0001c0001t0011g0213 a0001c0001t0012g0013 a0001c0001t0012g0184 a0001c0001t0012g0211 a0001c0001t0012g0212 a0001c0001t0013g0199 a0001c0001t0013g0274 a0001c0001t0015g0271 a0001c0001t0017g0197 a0001c0001t0019g0122 a0001c0001t0019g0154 a0001c0001t0020g0009 a0001c0001t0020g0132 a0001c0001t0021g0263 a0001c0001t0021g0276 a0001c0001t0022g0253 a0001c0001t0022g0264 a0001c0001t0023g0196 a0001c0001t0023g0228 a0001c0001t0025g0004 a0001c0001t0025g0046 a0001c0001t0026g0012 a0001c0001t0026g0135 a0001c0001t0029g0023 a0001c0001t0033g0248 a0001c0001t0033g0285 a0001c0001t0035g0047 a0001c0001t0035g0290 a0001c0001t0038g0296 a0001c0001t0044g0218 a0001c0001t0048g0124 a0001c0001t0049g0017 a0001c0001t0051g0011 a0001c0001t0052g0026 a0001c0001t0055g0297 a0001c0001t0056g0195 a0001c0001t0060g0246 a0001c0001t0064g0006 a0001c0001t0065g0295 a0001c0002t0001g0243 a0001c0002t0003g0111 a0001c0002t0003g0215 a0001c0002t0003g0244 a0001c0002t0003g0251 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0270 a0001c0002t0003g0272 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0236 a0001c0002t0004g0238 a0001c0002t0004g0249 a0001c0002t0004g0255 a0001c0002t0004g0262 a0001c0002t0004g0277 a0001c0002t0018g0229 a0001c0002t0027g0049 a0001c0002t0027g0190 a0001c0002t0030g0269 a0001c0002t0031g0237 a0001c0004t0034g0126 a0001c0004t0061g0275 a0001c0005t0010g0141 a0001c0005t0010g0143 a0001c0005t0010g0146 a0001c0005t0010g0147 a0001c0005t0010g0148 a0001c0007t0005g0127 a0001c0007t0005g0129 a0001c0007t0005g0185 a0001c0011t0034g0007 a0001c0014t0001g0001 a0001c0021t0023g0194 a0002c0003t0003g0014 a0002c0003t0006g0005 a0002c0003t0024g0144 a0002c0003t0024g0183 a0002c0003t0050g0179 a0002c0024t0030g0020 a0003c0006t0016g0140 a0003c0006t0016g0182 a0003c0006t0016g0201 a0004c0009t0001g0250 a0009c0015t0032g0191 a0010c0016t0001g0286 a0012c0019t0001g0256 a0013c0017t0001g0217 a0014c0022t0001g0025 a0015c0023t0003g0130	169	302	0.5596	31	c.-54 others(50): Show c.-549+4674_-549+4704dupCCCCACACCTCATATCCGGGCTCAGC TGGGA	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELFN1_chr7_1665277_1752946	1675043	C C	CCGGGCTC others(24): Show CCGGGCTCAGCTGGGACCCCACACCTCATATG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0231 a0001c0001t0013g0231	1	302	0.0033	31	c.-54 others(50): Show c.-549+4704_-549+4705insCCCCACACCTCATATGCGGGCTCAGC TGGGA	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA18747.hp1 HG01928.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0225 a0001c0001t0001g0235	2	244	0.0082	31	c.870 others(48): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar

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Search Results (Total: 5228 hits)