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
EFCAB12_chr3_129396321_129433636	129426689	T T	TTAATTGA others(32): Show TTAATTGAGACAGGGTCTTGCTCTGTTCCCCAAGCTGGAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	386	0.0026	39	c.49+ others(54): Show c.49+1712_49+1750dupCTCCAGCTTGGGGAACAGAGCAAGACCCTG TCTCAATTA	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	1/8			chr3	TogoVar
EFCAB13_chr17_47318955_47446312	47397763	A A	ACCCTCCG others(32): Show ACCCTCCGCCTGGCAACCGCCCGTCTGAGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18946.hp1 NA19085.hp2 NA18942.hp1 NA18946.hp1 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0222 a0003c0004t0002g0229 a0003c0004t0002g0232 a0003c0004t0002g0222 a0003c0004t0002g0229 a0003c0004t0002g0232	3	356	0.0084	39	c.194 others(58): Show c.1945+1796_1945+1834dupTGGCAACCGCCCGTCTGAGAAGTGAG GAGCCCCTCCGCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB2_chr1_244964682_245092837	245088331	C C	CACACACA others(32): Show CACACACACACACACACACACACACACGGGTCTCTATTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02922.hp1 HG02717.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0096 a0001c0001t0001g0006 a0001c0001t0001g0096	2	290	0.0069	39	c.97 others(48): Show c.971_*972insACACACACACACACACACACACACACGGGTCTCTAT TTG	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding		495		chr1	TogoVar
EFNA5_chr5_107371894_107675937	107476056	A A	ATATATAT others(32): Show ATATATATATATATATATATATATGTATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0088 a0001c0001t0060g0088	1	190	0.0053	39	c.126 others(58): Show c.126-48548_126-48547insAAATATATATATATACATATATATAT ATATATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107591917	T T	TATATATA others(32): Show TATATATAATATATAATATATATATTATATATAATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0009 a0001c0001t0049g0009	1	190	0.0053	39	c.125 others(58): Show c.125+78571_125+78572insTATATATTATATATAATATATATATT ATATATTATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EHBP1_chr2_62700713_63051487	62993724	C C	CTATATAT others(32): Show CTATATATAGTATATATATATAGTATATATATATAGCATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0187 a0001c0003t0001g0187	1	198	0.0051	39	c.287 others(54): Show c.2872+73_2873-92dupATATAGTATATATATATAGCATATATATAT AGTATATAT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHMT1_chr9_137614005_137841127	137799088	A A	AGCGTCCC others(32): Show AGCGTCCCCTCCCACACAGAGCCAGCTCGGGCCCTCCACG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00642.hp1 others(68): Show HG00323.hp2 HG00639.hp2 HG00642.hp1 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp2 HG02129.hp2 HG02145.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02486.hp1 HG02602.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03927.hp2 NA18522.hp2 NA18943.hp1 NA18947.hp2 NA18973.hp2 NA18979.hp2 NA18982.hp1 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0009	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0011 a0001c0014 a0001c0016 a0002c0010 a0003c0023 a0003c0024 a0004c0017 a0006c0013 a0009c0027	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(12): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0009t0001 a0001c0011t0001 a0001c0014t0001 a0001c0016t0001 a0002c0010t0001 a0003c0023t0001 a0003c0024t0001 a0004c0017t0001 a0006c0013t0001 a0009c0027t0001	a0001c0001t0001g0100 a0001c0002t0001g0002 a0001c0002t0001g0003 others(68): Show a0001c0001t0001g0100 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0065 a0001c0002t0001g0092 a0001c0002t0001g0108 a0001c0002t0001g0124 a0001c0002t0001g0141 a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0095 a0001c0003t0001g0102 a0001c0003t0001g0105 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0004t0001g0153 a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0066 a0001c0005t0001g0072 a0001c0005t0001g0073 a0001c0005t0001g0116 a0001c0005t0001g0117 a0001c0005t0001g0128 a0001c0009t0001g0061 a0001c0009t0001g0142 a0001c0009t0001g0170 a0001c0011t0001g0034 a0001c0011t0001g0036 a0001c0014t0001g0008 a0001c0016t0001g0029 a0002c0010t0001g0126 a0002c0010t0001g0127 a0002c0010t0001g0168 a0003c0023t0001g0075 a0003c0024t0001g0074 a0004c0017t0001g0007 a0006c0013t0001g0031 a0009c0027t0001g0125	71	170	0.4177	39	c.260 others(56): Show c.2607+181_2607+182insCTCCCACACAGAGCCAGCTCGGGCCCTC CACGGCGTCCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137799088	A A	AGCGTCCC others(32): Show AGCGTCCCCTCCCACACAGAGCCAGCTTGGGCCCTCCACG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02602.hp2 HG02965.hp1 others(1): Show HG01891.hp1 HG02602.hp2 HG02965.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0139 others(1): Show a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0139 a0001c0004t0001g0166	4	170	0.0235	39	c.260 others(56): Show c.2607+181_2607+182insCTCCCACACAGAGCCAGCTTGGGCCCTC CACGGCGTCCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137799090	C C	CGTCCCCT others(32): Show CGTCCCCTCCCACACAGAGCCAGCTCGGGCCCTCCACGGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0048 a0001c0005t0001g0048	1	170	0.0059	39	c.260 others(56): Show c.2607+181_2607+182insCTCCCACACAGAGCCAGCTCGGGCCCTC CACGGTGTCCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0323 a0001c0001t0007g0323	1	418	0.0024	39	c.119 others(56): Show c.119-1910_119-1909insATATATATATATATATATATATATATTT TTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TGTGTGTG others(32): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20752.hp2 HG03516.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0009 a0001c0001t0002 a0003c0004t0009	a0001c0001t0002g0094 a0003c0004t0009g0018 a0001c0001t0002g0094 a0003c0004t0009g0018	2	350	0.0057	39	c.219 others(58): Show c.2197-1048_2197-1047insCACACACACACACACACACACACACA CACACACACACAC	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3C_chr16_28706464_28740596	28738064	T T	TGGCAGAG others(32): Show TGGCAGAGACGCTCCTCACATCCCAGACGATGGGCGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	100	0.0100	39	c.25 others(50): Show c.2551_*2552insGGCAGAGACGCTCCTCACATCCCAGACGATGGGC GGCCA	EIF3C	ENSG00000184110.15	transcript	ENST00000331666.11	protein_coding		2469		chr16	TogoVar
EIF4G3_chr1_20801479_21181897	20989081	G G	GGGAGGGG others(32): Show GGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0228 a0001c0001t0004g0228	1	312	0.0032	39	c.178 others(56): Show c.178-6674_178-6673insTCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3319762	G G	GAGGCAGA others(32): Show GAGGCAGAGCAATACCACAACTGCGGGCAACACCACCCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG03225.hp1 HG02622.hp2 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0016 a0001c0001t0002g0010 a0001c0005t0001g0104 a0001c0001t0001g0016 a0001c0001t0002g0010 a0001c0005t0001g0104	3	250	0.0120	39	c.259 others(58): Show c.259+18254_259+18255insAGGGGTGGTGTTGCCCGCAGTTGTGG TATTGCTCTGCCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3337554	C C	CAAGAGCC others(32): Show CAAGAGCCTAGAGAGCACAACGGCGGGCAGGAAGAAGCCT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	250	0.0040	39	c.259 others(54): Show c.259+424_259+462dupAGGCTTCTTCCTGCCCGCCGTTGTGCTCTC TAGGCTCTT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(32): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0174 a0001c0001t0007g0174	1	276	0.0036	39	c.60 others(50): Show c.6094_*6095insCTTCCTTCCTTCTTCTTTCTTTCTTTCTTTCTTT CTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(32): Show TCCAGTCTCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18998.hp1 NA18946.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0289 a0001c0001t0001g0276 a0001c0001t0001g0289	2	342	0.0059	39	c.238 others(58): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139151028	A A	AAAAGAAA others(32): Show AAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	342	0.0029	39	c.-25 others(60): Show c.-251-11532_-251-11531insCTTTCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELFN2_chr22_37362960_37432479	37376502	A A	AAGAATTA others(32): Show AAGAATTAAGAAGCCCAGCAAAATGCCTCCTTTCCTCCAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	334	0.0030	39	c.-46 others(56): Show c.-462-545_-462-507dupATGGAGGAAAGGAGGCATTTTGCTGGGC TTCTTAATTCT	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2			chr22	TogoVar
ELFN2_chr22_37362960_37432479	37399472	A A	AGACCACC others(32): Show AGACCACCGGCCCACCTCTCCCACCTCCACCGACCACGGG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0072 a0001c0002t0007g0072	1	334	0.0030	39	c.-46 others(60): Show c.-463+18258_-463+18296dupCCCGTGGTCGGTGGAGGTGGGAGA GGTGGGCCGGTGGTC	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2			chr22	TogoVar
ELFN2_chr22_37362960_37432479	37399480	G G	GGCCCACC others(32): Show GGCCCACCTCTCCCACCTCCACCGACCACGGGGACCACCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG01109.hp1 others(28): Show HG00423.hp2 HG00639.hp2 HG01109.hp1 HG01433.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 NA18975.hp2 NA19030.hp1 NA19043.hp2 NA19066.hp1 NA19088.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0018	a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 others(14): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0062 a0001c0001t0065 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0018 a0001c0002t0032 a0001c0002t0036 a0001c0005t0011 a0001c0006t0047 a0001c0018t0045	a0001c0001t0005g0044 a0001c0001t0005g0148 a0001c0001t0005g0202 others(28): Show a0001c0001t0005g0044 a0001c0001t0005g0148 a0001c0001t0005g0202 a0001c0001t0005g0209 a0001c0001t0009g0167 a0001c0001t0009g0168 a0001c0001t0009g0171 a0001c0001t0009g0210 a0001c0001t0017g0208 a0001c0001t0025g0239 a0001c0001t0027g0204 a0001c0001t0027g0216 a0001c0001t0030g0153 a0001c0001t0062g0158 a0001c0001t0065g0169 a0001c0002t0004g0157 a0001c0002t0004g0173 a0001c0002t0004g0192 a0001c0002t0004g0328 a0001c0002t0006g0181 a0001c0002t0006g0195 a0001c0002t0007g0205 a0001c0002t0018g0176 a0001c0002t0032g0037 a0001c0002t0032g0305 a0001c0002t0036g0165 a0001c0005t0011g0196 a0001c0005t0011g0211 a0001c0005t0011g0212 a0001c0006t0047g0203 a0001c0018t0045g0172	31	334	0.0928	39	c.-46 others(60): Show c.-463+18250_-463+18288dupTGGTGGTCCCCGTGGTCGGTGGAG GTGGGAGAGGTGGGC	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2			chr22	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GCGGGTGT others(32): Show GCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	312	0.0032	39	c.-47 others(50): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACCCG	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGT others(32): Show GGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 NA19012.hp2 HG01070.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0044 a0001c0001t0003g0008 a0001c0001t0003g0044	2	312	0.0064	39	c.-47 others(50): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC CCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(32): Show GGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	312	0.0032	39	c.-47 others(50): Show c.-4772_-4771insACACACACACACACACACACACACACACACACCC GCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGC others(32): Show GGGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	312	0.0032	39	c.-47 others(50): Show c.-4772_-4771insACACACACACACACACACACACACACACACCCGC CCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(32): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0185 a0003c0002t0001g0185	1	288	0.0035	39	c.190 others(58): Show c.1909+7355_1909+7356insATGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp1 HG02132.hp1 others(1): Show HG01106.hp2 HG01175.hp1 HG02132.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0001t0056 a0001c0003t0002 others(1): Show a0001c0001t0003 a0001c0001t0056 a0001c0003t0002 a0001c0004t0001	a0001c0001t0003g0096 a0001c0001t0056g0258 a0001c0003t0002g0159 others(1): Show a0001c0001t0003g0096 a0001c0001t0056g0258 a0001c0003t0002g0159 a0001c0004t0001g0200	4	264	0.0152	39	c.243 others(58): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENPP6_chr4_184083706_184222873	184210307	T T	TCAAGAAA others(32): Show TCAAGAAAAAAAAAAAAGAGTAAAAAAAAAAAAAAATAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0169 a0002c0001t0006g0169	1	320	0.0031	39	c.241 others(56): Show c.241+7271_241+7272insTTTATTTTTTTTTTTTTTTACTCTTTTT TTTTTTTCTTG	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	1/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79732140	A A	ATATACAC others(32): Show ATATACACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0185 a0003c0005t0001g0185	1	430	0.0023	39	c.253 others(54): Show c.253+752_253+753insCACATATATATATATATATATATATATATA TATATTATA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTPD8_chr9_137429364_137446357	137438449	C C	CCTCCCGT others(32): Show CCTCCCGTGGCCATAGAGGCATCCCCGGGGCTCAGACGGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	392	0.0026	39	c.-20 others(54): Show c.-20-183_-20-145dupACCGTCTGAGCCCCGGGGATGCCTCTATGG CCACGGGAG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTREP3_chr1_155242205_155260483	155252723	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	395	0.0025	39	c.622 others(54): Show c.622-819_622-818insTATATATATATATATATATATATATATATA TATATATAT	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
EPB41L4A_chr5_112157619_112424277	112353207	C C	CAGCAGTG others(32): Show CAGCAGTGAACCAAGCATGCCTGTTGGCATGCTTGAACCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0214 a0002c0008t0001g0214	1	228	0.0044	39	c.100 others(58): Show c.100-45756_100-45718dupTGGTTCAAGCATGCCAACAGGCATGC TTGGTTCACTGCT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(32): Show ACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA19004.hp2 HG01106.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0248 a0001c0001t0002g0110 a0001c0001t0002g0248	2	312	0.0064	39	c.-8+ others(56): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(32): Show ACACACACACACACACACACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0216 a0001c0003t0002g0216	1	312	0.0032	39	c.-8+ others(56): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(32): Show ACACACACACACACACACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA19010.hp1 HG02300.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0002g0260 a0001c0001t0001g0015 a0001c0001t0002g0260	2	312	0.0064	39	c.-8+ others(56): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA4_chr2_221413027_221577304	221566956	G G	GAGAAGGA others(32): Show GAGAAGGAGAAGGAGAAGGAGAAGGGGAAGAGGAAGAGGA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	294	0.0034	39	c.159 others(56): Show c.159+1761_159+1762insTCCTCTTCCTCTTCCCCTTCTCCTTCTC CTTCTCCTTCT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566956	G G	GAGAAGGA others(32): Show GAGAAGGAGAAGGAGAAGGGGAAGAGGAAGAGGAAGAAGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0002g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0002g0179	3	294	0.0102	39	c.159 others(56): Show c.159+1761_159+1762insTCTTCTTCCTCTTCCTCTTCCCCTTCTC CTTCTCCTTCT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566956	G G	GAGAAGGA others(32): Show GAGAAGGAGAAGGGGAAGGGGAAGAGGAAGAGGAAGAAGA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19002.hp2 NA18612.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0004 a0001c0001t0020	a0001c0001t0004g0174 a0001c0001t0020g0173 a0001c0001t0004g0174 a0001c0001t0020g0173	2	294	0.0068	39	c.159 others(56): Show c.159+1761_159+1762insTCTTCTTCCTCTTCCTCTTCCCCTTCCC CTTCTCCTTCT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566956	G G	GAGAAGGG others(32): Show GAGAAGGGGAAGGGGAAGAGGAAGAGGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	294	0.0034	39	c.159 others(56): Show c.159+1761_159+1762insTCTTCTTCTTCTTCCTCTTCCTCTTCCC CTTCCCCTTCT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(32): Show GAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0220 a0001c0001t0007g0220	1	234	0.0043	39	c.910 others(58): Show c.910+25586_910+25587insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19030.hp2 NA19088.hp1 HG00140.hp1 NA19030.hp2 NA19088.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0009 a0001c0001t0011 a0006c0012t0029 a0001c0001t0009 a0001c0001t0011 a0006c0012t0029	a0001c0001t0009g0073 a0001c0001t0011g0199 a0006c0012t0029g0205 a0001c0001t0009g0073 a0001c0001t0011g0199 a0006c0012t0029g0205	3	234	0.0128	39	c.910 others(58): Show c.910+25586_910+25587insTCTTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576113	G G	GAAAAGAA others(32): Show GAAAAGAAAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18957.hp1 NA20129.hp1 HG02559.hp2 NA18957.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0001t0050 a0001c0002t0002 a0001c0001t0023 a0001c0001t0050 a0001c0002t0002	a0001c0001t0023g0179 a0001c0001t0050g0191 a0001c0002t0002g0209 a0001c0001t0023g0179 a0001c0001t0050g0191 a0001c0002t0002g0209	3	234	0.0128	39	c.910 others(58): Show c.910+25527_910+25528insTCTTTTCTTTTCTTTTCTTTTCTTTT TTTCTTTTCTTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHB1_chr3_134790260_135265467	134882765	C C	CCTTTCTT others(32): Show CCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	134	0.0075	39	c.59- others(56): Show c.59-43039_59-43038insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(32): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	282	0.0036	39	c.766 others(56): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN3_chr17_50527735_50548750	50534063	C C	CCTTCCTT others(32): Show CCTTCCTTTCCTCCTCCCTTCTCTGCGCTTGGGCAGGCTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19062.hp1 NA19065.hp2 HG02080.hp1 NA19062.hp1 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	3	350	0.0086	39	c.-13 others(58): Show c.-137+1142_-137+1180dupCGCTTGGGCAGGCTTCTTCCTTTCCT CCTCCCTTCTCTG	EPN3	ENSG00000049283.19	transcript	ENST00000268933.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(32): Show TATATATATATATATATATATATATATAATATATACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0002 a0013c0021t0002	a0013c0021t0002g0267 a0013c0021t0002g0267	1	358	0.0028	39	c.432 others(56): Show c.4323+273_4323+274insGTGTGTATATATTATATATATATATATA TATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	219971800	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	358	0.0028	39	c.432 others(56): Show c.4323+268_4323+269insGTGTGTGTGTGTATATATATATATATAT ATATATATATA	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42965768	T T	TCGTCTCC others(32): Show TCGTCTCCCTCTCCCTCTCCCTCATCTCCCTCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01975.hp1 HG03471.hp1 HG01261.hp1 HG01975.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0021 a0001c0001t0002 a0001c0001t0012 a0001c0001t0021	a0001c0001t0002g0219 a0001c0001t0012g0218 a0001c0001t0021g0155 a0001c0001t0002g0219 a0001c0001t0012g0218 a0001c0001t0021g0155	3	352	0.0085	39	c.332 others(56): Show c.332-1630_332-1629insGAGAGGGAGAGGGAGATGAGGGAGAGGG AGAGGGAGACG	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
ERAL1_chr17_28850016_28866061	28862280	T T	TGTTTGTC others(32): Show TGTTTGTCTTCTGTTTTTGTCTTTTTTTTTTGTTTTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	39	c.17 others(50): Show c.1727_*1728insGTTTGTCTTCTGTTTTTGTCTTTTTTTTTTGTTT TATTA	ERAL1	ENSG00000132591.12	transcript	ENST00000254928.10	protein_coding		1220		chr17	TogoVar
ERBB3_chr12_56075165_56108505	56075634	G G	GCCGGGCA others(32): Show GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	392	0.0026	39	c.-46 others(50): Show c.-4667_-4666insCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG GCGGC	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding		4530		chr12	TogoVar

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Search Results (Total: 3425 hits)