JoGo: Joint Open Genome and Omics Platform

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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ERC2_chr3_55503311_56473467	55714667	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01169.hp2 others(10): Show HG01069.hp1 HG01071.hp1 HG01169.hp2 HG02040.hp1 HG02145.hp1 HG02486.hp2 HG02647.hp2 HG03130.hp2 HG03225.hp2 HG03834.hp1 HG03834.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0004 a0001c0002t0013 a0004c0005t0003	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0048 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0004g0020 a0001c0002t0004g0001 a0001c0002t0013g0074 a0004c0005t0003g0065	13	74	0.1757	-18	c.271 others(39): Show c.2713-15173_2713-15156delTATATATATATATATATA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55808701	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG06807.hp1 HG01169.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0048 a0001c0001t0009g0073 a0001c0001t0001g0048 a0001c0001t0009g0073	2	74	0.0270	-18	c.256 others(39): Show c.2565-73801_2565-73784delTATATATATATATATATA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56313001	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	74	0.0135	-18	c.658 others(37): Show c.658-16584_658-16567delATATATATATATATATAT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17						chr3	TogoVar
ERCC1_chr19_45402334_45428917	45410565	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0221 a0001c0001t0036g0221	1	420	0.0024	-18	c.844 others(33): Show c.844-858_844-841delCACACACACACACACACA		ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9						chr19	TogoVar
ERCC6_chr10_49449470_49544121	49526097	ATTTATAT others(11): Show ATTTATATATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18970.hp2 HG02451.hp1 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0039 a0002c0002t0004 a0002c0002t0039	a0002c0002t0004g0087 a0002c0002t0039g0335 a0002c0002t0004g0087 a0002c0002t0039g0335	2	388	0.0052	-18	c.653 others(35): Show c.653-1338_653-1321delAATATATAAATATATAAA		ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20						chr10	TogoVar
ERCC6_chr10_49449470_49544121	49526115	TTTTATAT others(11): Show TTTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02886.hp1 others(2): Show HG01243.hp2 HG02145.hp1 HG02886.hp1 HG03195.hp2 NA18906.hp2	a0009 a0014 a0009 a0014	a0009c0013 a0014c0016 a0009c0013 a0014c0016	a0009c0013t0013 a0014c0016t0018 a0009c0013t0013 a0014c0016t0018	a0009c0013t0013g0034 a0009c0013t0013g0329 a0014c0016t0018g0035 a0009c0013t0013g0034 a0009c0013t0013g0329 a0014c0016t0018g0035	5	388	0.0129	-18	c.653 others(35): Show c.653-1356_653-1339delTATATATATATATATAAA		ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20						chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526097	ATTTATAT others(11): Show ATTTATATATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02451.hp2 NA18970.hp2 HG01358.hp2 HG02451.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0066 a0002c0002t0002g0082 a0002c0002t0004g0212 a0002c0002t0002g0066 a0002c0002t0002g0082 a0002c0002t0004g0212	3	402	0.0075	-18	c.653 others(35): Show c.653-1338_653-1321delAATATATAAATATATAAA		ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5						chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526115	TTTTATAT others(11): Show TTTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02886.hp1 others(2): Show HG01243.hp2 HG02145.hp1 HG02886.hp1 HG03195.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0004c0008 a0001c0005 a0004c0008	a0001c0005t0001 a0004c0008t0001 a0001c0005t0001 a0004c0008t0001	a0001c0005t0001g0060 a0004c0008t0001g0059 a0004c0008t0001g0206 a0001c0005t0001g0060 a0004c0008t0001g0059 a0004c0008t0001g0206	5	402	0.0124	-18	c.653 others(35): Show c.653-1356_653-1339delTATATATATATATATAAA		ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5						chr10	TogoVar
ERCC8_chr5_60861454_60950070	60904628	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA21309.hp2 HG02965.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0042 a0001c0001t0007 a0001c0001t0042	a0001c0001t0007g0236 a0001c0001t0042g0023 a0001c0001t0007g0236 a0001c0001t0042g0023	2	302	0.0066	-18	c.481 others(33): Show c.481+146_481+163delTATATATATATACACACA		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11						chr5	TogoVar
ERCC8_chr5_60861454_60950070	60904634	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp2 HG02559.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0032 a0001c0002t0016 a0001c0002t0032	a0001c0002t0016g0064 a0001c0002t0032g0067 a0001c0002t0016g0064 a0001c0002t0032g0067	2	302	0.0066	-18	c.481 others(33): Show c.481+140_481+157delTATATATATATATATATA		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11						chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938040	CATACATA others(11): Show CATACATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG01167.hp2 others(22): Show HG00621.hp1 HG00639.hp1 HG01167.hp2 HG01257.hp1 HG01496.hp1 HG01515.hp1 HG01891.hp1 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02258.hp2 HG02559.hp1 HG02622.hp1 HG02723.hp1 HG02818.hp2 HG03704.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18945.hp1 NA19003.hp1 NA19065.hp2 NA19078.hp2 NA19083.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0038 a0001c0001t0067 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0083	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 others(21): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0003g0050 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0112 a0001c0001t0003g0118 a0001c0001t0003g0164 a0001c0001t0007g0025 a0001c0001t0010g0002 a0001c0001t0010g0028 a0001c0001t0010g0029 a0001c0001t0010g0030 a0001c0001t0011g0110 a0001c0001t0011g0111 a0001c0001t0038g0163 a0001c0001t0067g0113 a0001c0001t0072g0097 a0001c0001t0073g0165 a0001c0001t0074g0052 a0001c0001t0083g0027	25	302	0.0828	-18	c.77+ others(33): Show c.77+6874_77+6891delATATATATATGTATGTAT		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11						chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938044	CATACATA others(11): Show CATACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0065 a0001c0002t0008g0065	1	302	0.0033	-18	c.77+ others(33): Show c.77+6870_77+6887delATATATATATATATGTAT		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11						chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938048	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp1 HG02258.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0256 a0001c0001t0027g0257 a0001c0001t0027g0256 a0001c0001t0027g0257	2	302	0.0066	-18	c.77+ others(33): Show c.77+6866_77+6883delATATATATATATATATAT		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11						chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938072	TATATATA others(11): Show TATATATATATATATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp2 HG01516.hp1 others(6): Show HG00280.hp1 HG01496.hp2 HG01516.hp1 HG01981.hp1 HG02145.hp2 HG02896.hp1 HG03540.hp1 HG03704.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0008 a0001c0002t0016 others(2): Show a0001c0002t0006 a0001c0002t0008 a0001c0002t0016 a0001c0002t0032 a0001c0002t0057	a0001c0002t0006g0049 a0001c0002t0006g0060 a0001c0002t0006g0061 others(6): Show a0001c0002t0006g0049 a0001c0002t0006g0060 a0001c0002t0006g0061 a0001c0002t0006g0083 a0001c0002t0008g0068 a0001c0002t0016g0069 a0001c0002t0016g0070 a0001c0002t0032g0063 a0001c0002t0057g0062	9	302	0.0298	-18	c.77+ others(33): Show c.77+6842_77+6859delTAAAATATATATATATAT		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11						chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938073	ATATATAT others(11): Show ATATATATATATATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03490.hp1 HG02809.hp2 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0016 a0001c0002t0006 a0001c0002t0016	a0001c0002t0006g0084 a0001c0002t0016g0082 a0001c0002t0006g0084 a0001c0002t0016g0082	2	302	0.0066	-18	c.77+ others(33): Show c.77+6841_77+6858delATAAAATATATATATATA		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11						chr5	TogoVar
EREG_chr4_74360145_74393749	74378773	AAATTTTA others(11): Show AAATTTTATCTTTTCACTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00639.hp1 others(14): Show HG00323.hp2 HG00597.hp1 HG00639.hp1 HG01175.hp1 HG01261.hp1 HG01346.hp1 HG01952.hp1 HG02056.hp1 HG02083.hp2 HG03490.hp1 HG03492.hp2 NA18962.hp2 NA18975.hp1 NA18977.hp1 NA18994.hp2 NA19012.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0128 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0172 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0028g0007	17	358	0.0475	-18	c.68- others(31): Show c.68-671_68-654delTTTATCTTTTCACTGAAT		EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr4	TogoVar
ERG28_chr14_75644791_75665876	75656279	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG02258.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0144 a0001c0001t0002g0145	2	420	0.0048	-18	c.133 others(35): Show c.133+1073_133+1090delGTGTGTGTGTGTGTGTGT		ERG28	ENSG00000133935.7	transcript	ENST00000256319.7	protein_coding	2/4						chr14	TogoVar
ERGIC1_chr5_172829251_172957683	172928602	TATAACAT others(11): Show TATAACATGGCACTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01978.hp2 HG02293.hp2 others(1): Show HG01928.hp2 HG01978.hp2 HG02293.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0184 a0001c0001t0001g0259 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0184 a0001c0001t0001g0259 a0001c0001t0001g0279	4	334	0.0120	-18	c.541 others(35): Show c.541+2034_541+2051delATAACATGGCACTCTGCC		ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	7/9						chr5	TogoVar
ERG_chr21_38375036_38503477	38499878	GAAAGAAA others(11): Show GAAAGAAAGAAGGAAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	360	0.0028	-18	c.-15 others(29): Show c.-1516_-1499delTCTTTTCCTTCTTTCTTT		ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding					1402		chr21	TogoVar
ERI3_chr1_44216070_44360257	44310959	GCGCGCAC others(11): Show GCGCGCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19084.hp1 NA18941.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	2	340	0.0059	-18	c.666 others(35): Show c.666+2192_666+2209delTGTGTGTGTGTGTGCGCG		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	5/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44310963	GCACACAC others(11): Show GCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG02735.hp2 others(8): Show HG00733.hp1 HG01175.hp2 HG02735.hp2 HG02738.hp1 HG03834.hp1 NA18966.hp2 NA19058.hp1 NA19064.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0001g0240 others(8): Show a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0330 a0001c0001t0001g0331	11	340	0.0324	-18	c.666 others(35): Show c.666+2188_666+2205delTGTGTGTGTGTGTGTGTG		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	5/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44342849	ATATATAT others(11): Show ATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19077.hp2 NA18995.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0014 a0001c0001t0001g0043	2	340	0.0059	-18	c.212 others(35): Show c.212-3545_212-3528delAAAAAAAAAATATATATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERICH1_chr8_659200_736224	699767	CCGCACAG others(11): Show CCGCACAGACCCGCACACG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01891.hp1 others(6): Show HG01069.hp2 HG01071.hp2 HG01891.hp1 HG02109.hp2 HG02451.hp1 HG02970.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0209 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0003c0004t0001g0078	9	378	0.0238	-18	c.170 others(35): Show c.170-7173_170-7156delCGTGTGCGGGTCTGTGCG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	699794	CCCGCACA others(11): Show CCCGCACACGCGCACAGAT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	378	0.0027	-18	c.170 others(35): Show c.170-7200_170-7183delATCTGTGCGCGTGTGCGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	699802	CGCGCACA others(11): Show CGCGCACAGATCCGCACAA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0351 a0001c0001t0002g0351	1	378	0.0027	-18	c.170 others(35): Show c.170-7208_170-7191delTTGTGCGGATCTGTGCGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	699937	ACCCGCAC others(11): Show ACCCGCACACGCGCACAGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0296 a0001c0003t0002g0296	1	378	0.0027	-18	c.170 others(35): Show c.170-7343_170-7326delCCTGTGCGCGTGTGCGGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	699955	GCCCGCAC others(11): Show GCCCGCACACGCGCACAGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	378	0.0027	-18	c.170 others(35): Show c.170-7361_170-7344delTCTGTGCGCGTGTGCGGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	700000	GGCGCACA others(11): Show GGCGCACAGACCCGCACAC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG02622.hp1 others(3): Show HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02976.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 others(3): Show a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0129	6	378	0.0159	-18	c.170 others(35): Show c.170-7406_170-7389delGTGTGCGGGTCTGTGCGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	700108	CGCGCACA others(11): Show CGCGCACACACCCTCACAG	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0245 a0007c0011t0002g0245	1	378	0.0027	-18	c.170 others(35): Show c.170-7514_170-7497delCTGTGAGGGTGTGTGCGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	700184	CGCACACG others(11): Show CGCACACGCGCACAGGCCG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	378	0.0027	-18	c.170 others(35): Show c.170-7590_170-7573delCGGCCTGTGCGCGTGTGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	700237	CCGCACAG others(11): Show CCGCACAGGCCCGCACACG	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02165.hp1 HG03130.hp1 HG02129.hp2 HG02165.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0001t0001g0099 a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0001t0001g0099	3	378	0.0079	-18	c.170 others(35): Show c.170-7643_170-7626delCGTGTGCGGGCCTGTGCG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	700309	ACCCGCAC others(11): Show ACCCGCACACGCGCACAGG	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19007.hp1 NA18967.hp1 NA19007.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0131 a0006c0008t0001g0179 a0006c0008t0001g0131 a0006c0008t0001g0179	2	378	0.0053	-18	c.170 others(35): Show c.170-7715_170-7698delCCTGTGCGCGTGTGCGGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	700328	CCCGCACA others(11): Show CCCGCACACGCGCACAGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(23): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG02602.hp2 HG03017.hp1 HG03453.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG04204.hp1 NA18985.hp1 NA18985.hp2 NA18991.hp2 NA20752.hp1 NA20805.hp1	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0012	a0001c0001 a0001c0002 a0004c0006 others(2): Show a0001c0001 a0001c0002 a0004c0006 a0007c0011 a0012c0017	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0004c0006t0002 a0007c0011t0002 a0012c0017t0002	a0001c0001t0002g0274 a0001c0002t0001g0023 a0001c0002t0001g0027 others(23): Show a0001c0001t0002g0274 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0002g0298 a0001c0002t0002g0324 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0334 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0342 a0001c0002t0002g0344 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0002g0348 a0001c0002t0002g0350 a0004c0006t0002g0250 a0004c0006t0002g0251 a0004c0006t0002g0325 a0007c0011t0002g0245 a0012c0017t0002g0366	26	378	0.0688	-18	c.170 others(35): Show c.170-7734_170-7717delATCTGTGCGCGTGTGCGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	700406	CAGGCGCA others(11): Show CAGGCGCACAGGCCCGCAG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01891.hp1 others(5): Show HG01069.hp2 HG01071.hp2 HG01891.hp1 HG02451.hp1 HG02970.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0209 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233	8	378	0.0212	-18	c.170 others(35): Show c.170-7812_170-7795delCTGCGGGCCTGTGCGCCT		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	700497	CGCGCACA others(11): Show CGCGCACAGGCCCGCACAG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	378	0.0027	-18	c.170 others(35): Show c.170-7903_170-7886delCTGTGCGGGCCTGTGCGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073468	ATATATAT others(11): Show ATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18991.hp1 NA18948.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0185 a0001c0001t0002g0175 a0001c0001t0002g0185	2	442	0.0045	-18	c.58+ others(33): Show c.58+8759_58+8776delGTATATATATATATATAT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98079153	CTTTTTTT others(11): Show CTTTTTTTTTTTCCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp1 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0362 a0001c0001t0002g0341 a0001c0001t0001g0362 a0001c0001t0002g0341	2	442	0.0045	-18	c.59- others(33): Show c.59-9911_59-9894delCCTTTTTTTTTTTTTTTT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98085136	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	442	0.0023	-18	c.59- others(33): Show c.59-3915_59-3898delTTTTTTTTTTTTTTTTTT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45596584	CCCAGATA others(11): Show CCCAGATACTCTTCCTCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(72): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02683.hp1 HG02735.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03579.hp2 HG03688.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp1 NA18948.hp2 NA18950.hp1 NA18955.hp1 NA18969.hp1 NA18971.hp2 NA18988.hp2 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA19009.hp1 NA19010.hp2 NA19064.hp2 NA19084.hp2 NA19085.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0009 a0016 others(4): Show a0002 a0009 a0016 a0020 a0030 a0031 a0032	a0002c0002 a0009c0009 a0009c0044 others(5): Show a0002c0002 a0009c0009 a0009c0044 a0016c0017 a0020c0021 a0030c0047 a0031c0045 a0032c0046	a0002c0002t0001 a0002c0002t0002 a0009c0009t0001 others(6): Show a0002c0002t0001 a0002c0002t0002 a0009c0009t0001 a0009c0044t0001 a0016c0017t0001 a0020c0021t0001 a0030c0047t0002 a0031c0045t0002 a0032c0046t0001	a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0009 others(69): Show a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0144 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0196 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0228 a0002c0002t0001g0251 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0288 a0002c0002t0001g0301 a0002c0002t0002g0276 a0002c0002t0002g0277 a0009c0009t0001g0101 a0009c0009t0001g0145 a0009c0009t0001g0146 a0009c0009t0001g0158 a0009c0009t0001g0160 a0009c0009t0001g0164 a0009c0009t0001g0279 a0009c0044t0001g0187 a0016c0017t0001g0102 a0016c0017t0001g0103 a0016c0017t0001g0176 a0020c0021t0001g0226 a0020c0021t0001g0227 a0030c0047t0002g0213 a0031c0045t0002g0219 a0032c0046t0001g0151	75	326	0.2301	-18	c.404 others(25): Show c.404_421delAGGAGGAAGAGTATCTGG	p.Glu others(13): Show p.Glu135_Leu140del	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	3/15	586/2424	404/2091	135/696			chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45606499	GTATGTGT others(11): Show GTATGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03942.hp2 NA21309.hp1 HG01975.hp2 HG03942.hp2 NA21309.hp1	a0002 a0012 a0022 a0002 a0012 a0022	a0002c0002 a0012c0013 a0022c0024 a0002c0002 a0012c0013 a0022c0024	a0002c0002t0001 a0012c0013t0002 a0022c0024t0001 a0002c0002t0001 a0012c0013t0002 a0022c0024t0001	a0002c0002t0001g0027 a0012c0013t0002g0293 a0022c0024t0001g0204 a0002c0002t0001g0027 a0012c0013t0002g0293 a0022c0024t0001g0204	3	326	0.0092	-18	c.-59 others(35): Show c.-59+1047_-59+1064delTATATATATATACACATA		ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14						chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45606533	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	326	0.0031	-18	c.-59 others(35): Show c.-59+1013_-59+1030delAAAATATATATATATATA		ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14						chr13	TogoVar
ERO1A_chr14_52634915_52700558	52645847	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02055.hp1 HG02486.hp1 HG01346.hp2 HG02055.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0006 a0001c0001t0006 a0001c0003t0006	a0001c0001t0006g0027 a0001c0003t0006g0305 a0001c0003t0006g0306 a0001c0001t0006g0027 a0001c0003t0006g0305 a0001c0003t0006g0306	3	398	0.0075	-18	c.134 others(35): Show c.1346+289_1346+306delGTGTGTGTGTGTGTGTGT		ERO1A	ENSG00000197930.13	transcript	ENST00000395686.8	protein_coding	15/15						chr14	TogoVar
ERO1A_chr14_52634915_52700558	52697642	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	398	0.0025	-18	c.-21 others(29): Show c.-2179_-2162delAGAAAAAAAAAAAAAAAA		ERO1A	ENSG00000197930.13	transcript	ENST00000395686.8	protein_coding					2085		chr14	TogoVar
ERP44_chr9_99974185_100104000	99984680	ATTCCCAT others(11): Show ATTCCCATTTGAAGCCAAC	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	220	0.0046	-18	c.111 others(35): Show c.1119+269_1119+286delGTTGGCTTCAAATGGGAA		ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	11/11						chr9	TogoVar
ERP44_chr9_99974185_100104000	100061509	TGTATATA others(11): Show TGTATATATTTATAGAAAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02647.hp2 others(10): Show HG01081.hp1 HG02109.hp1 HG02647.hp2 HG02809.hp2 HG02897.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0039 others(10): Show a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0005	13	220	0.0591	-18	c.58- others(33): Show c.58-1355_58-1338delGTTTCTATAAATATATAC		ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11						chr9	TogoVar
ERV3-1_chr7_64985356_65011687	64989443	TTATATAT others(11): Show TTATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00733.hp2 HG01891.hp2 others(16): Show HG00609.hp2 HG00733.hp2 HG01891.hp2 HG01934.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02622.hp1 HG02965.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG06807.hp2 NA18988.hp2 NA18994.hp1 NA19064.hp1 NA19079.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0002c0006 a0004c0004	a0001c0001t0002 a0001c0005t0002 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0005t0002 a0002c0002t0001 a0002c0006t0001 a0004c0004t0004	a0001c0001t0002g0004 a0001c0005t0002g0022 a0001c0005t0002g0123 others(5): Show a0001c0001t0002g0004 a0001c0005t0002g0022 a0001c0005t0002g0123 a0002c0002t0001g0011 a0002c0006t0001g0007 a0004c0004t0004g0006 a0004c0004t0004g0083 a0004c0004t0004g0128	19	458	0.0415	-18	c.17 others(29): Show c.1751_*1768delTATATATATATATATATA		ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding					912		chr7	TogoVar
ESF1_chr20_13709325_13789919	13716804	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18990.hp2 NA19074.hp2 NA18956.hp2 NA18990.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0296 a0001c0001t0001g0306 a0001c0001t0001g0312	3	390	0.0077	-18	c.226 others(35): Show c.2262+546_2262+563delAAAAAAAAAAAAAAAAAA		ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	13/13						chr20	TogoVar
ESF1_chr20_13709325_13789919	13780602	GACCTCTT others(11): Show GACCTCTTGGCCTATCAAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01109.hp1 others(5): Show HG00280.hp1 HG00642.hp2 HG01109.hp1 HG01361.hp2 HG02257.hp1 HG02970.hp1 HG03098.hp1 NA18982.hp1	a0002 a0010 a0002 a0010	a0002c0003 a0010c0018 a0002c0003 a0010c0018	a0002c0003t0003 a0010c0018t0003 a0002c0003t0003 a0010c0018t0003	a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 others(5): Show a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0361 a0002c0003t0003g0362 a0010c0018t0003g0135	8	390	0.0205	-18	c.637 others(35): Show c.637+1884_637+1901delTTTGATAGGCCAAGAGGT		ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	2/13						chr20	TogoVar
ESPNL_chr2_238095340_238138287	238136283	GCACGTGT others(11): Show GCACGTGTGTGGGGTGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0041 a0003c0041	a0003c0041t0006 a0003c0041t0006	a0003c0041t0006g0300 a0003c0041t0006g0300	1	408	0.0025	-18	c.45 others(29): Show c.4552_*4569delCACGTGTGTGGGGTGGCT		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					2997		chr2	TogoVar
ESRP1_chr8_94636174_94712466	94700937	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	374	0.0027	-18	c.35 others(35): Show c.35+3992_*35+4009delATGTGTGTGTGTGTGTGT		ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr8	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)