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
DYRK4_chr12_4557208_4618875	4575298	A A	ATTTTGTG others(19): Show ATTTTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	414	0.0024	26	c.132 others(43): Show c.132+7250_132+7251insTTTTGTGTGTGTGTGTGTGTGTGTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DZANK1_chr20_18378367_18472030	18440060	G G	GGGTTGTG others(19): Show GGGTTGTGTACCCAGGGTTGTGTACCC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18999.hp2 NA18990.hp2 NA18999.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0021 a0001c0001 a0011c0021	a0001c0001t0002 a0011c0021t0002 a0001c0001t0002 a0011c0021t0002	a0001c0001t0002g0274 a0011c0021t0002g0182 a0001c0001t0002g0274 a0011c0021t0002g0182	2	374	0.0054	26	c.804 others(43): Show c.804+3286_804+3287insGGGTACACAACCCTGGGTACACAACC	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	8/20			chr20	TogoVar
DZIP1_chr13_95573202_95649706	95645320	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	382	0.0026	26	c.-14 others(37): Show c.-1470_-1469insTATATATATATATATATATATATATA	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding		615		chr13	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19075.hp1 NA19077.hp1 NA19001.hp1 NA19075.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0009 a0001c0001t0001g0044 a0001c0001t0001g0074	3	318	0.0094	26	c.376 others(43): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTCTCTCTCTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	318	0.0031	26	c.376 others(43): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTCTCTCTGTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp2 homoSapiens_chm13v2.hp1 HG00099.hp2 HG01074.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0227 a0001c0002t0001g0232 a0001c0002t0001g0224 a0001c0002t0001g0227 a0001c0002t0001g0232	3	318	0.0094	26	c.376 others(43): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTCTCTGTGTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(19): Show ACACACACACACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	318	0.0031	26	c.696 others(43): Show c.696+1880_696+1881insACACACACACACACACACACTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(19): Show ACACACACACACACACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	318	0.0031	26	c.696 others(43): Show c.696+1880_696+1881insACACACACACACACACTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(19): Show ACACACACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03209.hp2 HG02970.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0309 a0001c0002t0001g0269 a0001c0001t0001g0309 a0001c0002t0001g0269	2	318	0.0063	26	c.696 others(43): Show c.696+1880_696+1881insACACACACACACACTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(19): Show ACACACACACACACATACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03017.hp2 HG01258.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0266 a0001c0002t0001g0260 a0001c0002t0001g0266	2	318	0.0063	26	c.696 others(43): Show c.696+1880_696+1881insACACACACACACATACACTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(19): Show ACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	318	0.0031	26	c.696 others(43): Show c.696+1880_696+1881insACACACACACACTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(19): Show ACACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18999.hp1 HG01255.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0076 a0001c0001t0001g0087	2	318	0.0063	26	c.696 others(43): Show c.696+1880_696+1881insACACACACACTCTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(19): Show ACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0110 a0004c0005t0005g0110	1	318	0.0031	26	c.696 others(43): Show c.696+1880_696+1881insACACACACTCTCTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(19): Show ACACACACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	318	0.0031	26	c.696 others(43): Show c.696+1880_696+1881insACACACTCTCTCTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACTCTC others(19): Show ACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0116 a0001c0008t0001g0116	1	318	0.0031	26	c.696 others(43): Show c.696+1880_696+1881insACTCTCTCTCTCTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F5_chr8_85172154_85219518	85180511	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA19086.hp1 HG02735.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0198 a0002c0003t0001g0028 a0001c0002t0001g0198 a0002c0003t0001g0028	2	336	0.0060	26	c.234 others(43): Show c.234+2876_234+2901dupATATATATATATATATATATATATAT	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	366	0.0027	26	c.-29 others(37): Show c.-2977_-2976insATATATATATATATATTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBF1_chr5_158690920_159104916	158883350	A A	ATATATAT others(19): Show ATATATATACACACACATACATGCATG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG04184.hp2 HG02559.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0113 a0001c0002t0001g0114	2	196	0.0102	26	c.555 others(45): Show c.555-43241_555-43240insCATGCATGTATGTGTGTGTATATATA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158883374	A A	ATGTATAT others(19): Show ATGTATATATATACATACATACATGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0174 a0001c0001t0024g0174	1	196	0.0051	26	c.555 others(45): Show c.555-43290_555-43265dupCACATGTATGTATGTATATATATACA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158969919	A A	AGAAAAGA others(19): Show AGAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	196	0.0051	26	c.554 others(47): Show c.554+103476_554+103477insCTTTCTTTCTTTCTTTCTTTCTTT TC	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	25838165	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02280.hp1 HG02451.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0008 a0001c0005t0001 a0001c0005t0008	a0001c0005t0001g0146 a0001c0005t0008g0155 a0001c0005t0001g0146 a0001c0005t0008g0155	2	220	0.0091	26	c.64 others(37): Show c.6443_*6444insTTTTTTTTTTTTTTTTTTTTTTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding		3559		chr8	TogoVar
EBF3_chr10_129830233_129969274	129917679	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0071 a0001c0001t0006g0071	1	338	0.0030	26	c.554 others(45): Show c.554+39578_554+39579insGTTTTTTTTTTTTTTTTTTTTTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
ECM2_chr9_92490315_92540990	92533358	T T	TATATATA others(19): Show TATATATATATATATATATGCTTTGGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	400	0.0025	26	c.-28 others(43): Show c.-28+2574_-28+2575insCCCAAAGCATATATATATATATATAT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92540665	G G	GGAGGCTG others(19): Show GGAGGCTGATGGCAGGGAGAATCACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	400	0.0025	26	c.-47 others(37): Show c.-4761_-4760insAAGTGATTCTCCCTGCCATCAGCCTC	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding		4676		chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407403	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	354	0.0028	26	c.265 others(45): Show c.2652+1142_2652+1167dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19077.hp2 NA18952.hp2 NA19077.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0292 a0002c0003t0003g0293	2	354	0.0057	26	c.22+ others(41): Show c.22+4207_22+4208insACACACACACACACACACACACACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106071322	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	434	0.0023	26	c.80- others(39): Show c.80-517_80-492dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECSCR_chr5_139443560_139467743	139446475	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	369	0.0027	26	c.24 others(37): Show c.2424_*2425insGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2084		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446491	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	369	0.0027	26	c.24 others(37): Show c.2408_*2409insGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2068		chr5	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(19): Show CTTCCTTCCTTCCTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0041 a0001c0005t0005g0041	1	294	0.0034	26	c.62- others(41): Show c.62-3339_62-3338insCTTCCTTCCTTCTTTCTTTCTTTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02071.hp1 HG02602.hp1 others(11): Show HG00738.hp1 HG02071.hp1 HG02602.hp1 HG02886.hp2 HG02976.hp1 HG03017.hp1 HG03669.hp2 HG04228.hp1 NA18906.hp1 NA18943.hp1 NA18966.hp1 NA19005.hp1 NA19062.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0058 a0001c0001t0001g0061 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0002g0038 a0001c0001t0002g0076 a0001c0001t0002g0089 a0001c0001t0007g0052 a0002c0005t0001g0018	14	226	0.0620	26	c.396 others(45): Show c.396+39083_396+39084insATATATATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69888977	G G	GATAGATA others(19): Show GATAGATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	226	0.0044	26	c.397 others(45): Show c.397-68050_397-68049insATAGATAGATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDA_chrX_69611113_70044472	69888977	G G	GATAGATA others(19): Show GATAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18993.hp2 HG01978.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0195 a0001c0001t0019g0161 a0001c0001t0003g0195 a0001c0001t0019g0161	2	226	0.0089	26	c.397 others(45): Show c.397-68050_397-68049insATAGATATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDA_chrX_69611113_70044472	69888978	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18943.hp1 HG00738.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0058 a0001c0001t0007g0052 a0001c0001t0001g0058 a0001c0001t0007g0052	2	226	0.0089	26	c.397 others(45): Show c.397-68031_397-68006dupATATATATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDIL3_chr5_83935554_84389880	84132381	A A	AATATAAT others(19): Show AATATAATATATATTTTAATATATATT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01346.hp1 HG01433.hp2 others(6): Show HG01123.hp1 HG01346.hp1 HG01433.hp2 HG01993.hp1 HG02083.hp1 HG02129.hp1 HG02970.hp2 NA18747.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016	a0001c0001t0001g0088 a0001c0001t0002g0027 a0001c0001t0002g0044 others(6): Show a0001c0001t0001g0088 a0001c0001t0002g0027 a0001c0001t0002g0044 a0001c0001t0003g0133 a0001c0001t0004g0004 a0001c0001t0004g0086 a0001c0001t0004g0118 a0001c0001t0004g0128 a0001c0001t0016g0135	9	158	0.0570	26	c.469 others(43): Show c.469+4859_469+4860insAATATATATTAAAATATATATTATAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	5/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84175263	G G	GTAAGAAT others(19): Show GTAAGAATTACTTTAAGATTTAAGATT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	158	0.0063	26	c.355 others(43): Show c.355+5129_355+5130insAATCTTAAATCTTAAAGTAATTCTTA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03492.hp1 HG01175.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0115 a0001c0002t0001g0066 a0001c0001t0001g0115 a0001c0002t0001g0066	2	158	0.0127	26	c.196 others(43): Show c.196+1590_196+1591insTTTTTTTTTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	158	0.0063	26	c.68- others(41): Show c.68-8473_68-8448dupAAAAAAAAAAAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02280.hp2 others(1): Show HG01884.hp2 HG02055.hp1 HG02280.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0307 a0001c0001t0004g0318 a0001c0001t0004g0321 others(1): Show a0001c0001t0004g0307 a0001c0001t0004g0318 a0001c0001t0004g0321 a0001c0001t0011g0319	4	358	0.0112	26	c.400 others(43): Show c.400-3626_400-3625insATATATATTTTTTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00621.hp2 others(38): Show HG00099.hp2 HG00423.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG01099.hp2 HG01123.hp2 HG01496.hp1 HG01515.hp2 HG01981.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02257.hp2 HG02559.hp2 HG02886.hp1 HG02976.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp2 NA18981.hp2 NA18985.hp1 NA19009.hp1 NA19054.hp1 NA19067.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0002c0002t0001 a0002c0002t0007	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(38): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0003g0138 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0007g0107 a0001c0001t0008g0215 a0001c0001t0009g0021 a0001c0001t0020g0352 a0002c0002t0001g0008 a0002c0002t0007g0009	41	358	0.1145	26	c.291 others(41): Show c.291+332_291+333insTATATATATATATATATATATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0309 a0001c0001t0004g0346 a0001c0001t0004g0309 a0001c0001t0004g0346	2	358	0.0056	26	c.291 others(41): Show c.291+332_291+333insTATATATATATATATATATATATAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF2K_chr16_22201278_22293738	22226517	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0008 a0003c0004t0005g0008	1	290	0.0035	26	c.246 others(41): Show c.246+557_246+558insTTTTTTTTTTTTTTTTTTTTTTTTTT	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG01261.hp2 others(18): Show HG01081.hp2 HG01167.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01981.hp1 HG02165.hp2 HG02293.hp2 HG02451.hp1 HG02698.hp1 HG02717.hp1 HG02886.hp1 HG02976.hp1 HG03491.hp2 HG03942.hp2 HG04199.hp1 NA18946.hp1 NA18967.hp1 NA19068.hp2 NA19084.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0001 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0010g0220 a0001c0001t0012g0046	21	342	0.0614	26	c.-55 others(37): Show c.-5527_-5526insTATATATATATATATATATATATATA	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 NA19043.hp1 HG02486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0008 a0001c0002t0006g0025 a0001c0001t0001g0008 a0001c0002t0006g0025	2	342	0.0059	26	c.-55 others(37): Show c.-5540_-5539insGTATATATATATATATATATATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01257.hp1 HG01975.hp1 others(5): Show HG00738.hp1 HG01257.hp1 HG01975.hp1 HG02040.hp2 HG03492.hp1 NA18950.hp1 NA18999.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0024	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(5): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0137 a0001c0001t0006g0113 a0001c0001t0011g0020 a0001c0001t0014g0026 a0001c0001t0024g0013	8	272	0.0294	26	c.137 others(45): Show c.137+19231_137+19232insGAGAGAGAGAGAGAGAGAGAGAGAGA	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGAGAG others(19): Show TGTGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01978.hp2 others(3): Show HG01243.hp1 HG01243.hp2 HG01978.hp2 HG03710.hp1 HG04204.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0001 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0030 a0001c0001t0001g0092 a0001c0001t0001g0093 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0132 a0001c0001t0006g0115 a0001c0001t0014g0027	6	272	0.0221	26	c.137 others(45): Show c.137+19208_137+19209insTGAGAGAGAGAGAGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGAG others(19): Show TGTGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03831.hp1 NA18960.hp1 HG02970.hp2 HG03831.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0095 a0001c0001t0006g0116 a0001c0001t0006g0123 a0001c0001t0001g0095 a0001c0001t0006g0116 a0001c0001t0006g0123	3	272	0.0110	26	c.137 others(45): Show c.137+19208_137+19209insTGTGAGAGAGAGAGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEPD1_chr7_36148254_36306538	36183888	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0017 a0003c0002t0017	a0003c0002t0017g0017 a0003c0002t0017g0017	1	346	0.0029	26	c.878 others(45): Show c.878+28686_878+28687insTTTTTTTTTTTTTTTTTTTTTTTTTG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	428	0.0023	26	c.107 others(41): Show c.107-695_107-670dupATATATATATATATATATATATATAT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89835585	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0085 a0001c0001t0028g0085	1	284	0.0035	26	c.411 others(45): Show c.411-38287_411-38262dupACACACACACACACACACACACACAC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar

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