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 (≤).

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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ETF1_chr5_138501095_138548236	138512225	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	334	0.0030	19	c.732 others(34): Show c.732+538_732+539insATATATATATATATATATT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETF1_chr5_138501095_138548236	138512259	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0132 a0001c0001t0011g0132	1	334	0.0030	19	c.732 others(34): Show c.732+504_732+505insTATATATATATATATATAT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETF1_chr5_138501095_138548236	138542494	T T	TAGCACCC others(12): Show TAGCACCCGAGTCGGGTGGC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG04184.hp2 HG03491.hp1 HG03492.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0321 a0001c0001t0006g0322 a0001c0001t0007g0320 a0001c0001t0006g0321 a0001c0001t0006g0322 a0001c0001t0007g0320	3	334	0.0090	19	c.86+ others(32): Show c.86+320_86+338dupGCCACCCGACTCGGGTGCT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	2/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18970.hp1 NA18977.hp1 HG00621.hp2 NA18970.hp1 NA18977.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0135 a0001c0001t0002g0142 a0002c0002t0004g0260 a0001c0001t0002g0135 a0001c0001t0002g0142 a0002c0002t0004g0260	3	336	0.0089	19	c.40- others(32): Show c.40-218_40-200dupAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76310068	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19240.hp1 NA20300.hp1 HG00140.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0223 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0223	3	336	0.0089	19	c.39+ others(34): Show c.39+1263_39+1281dupTTTTTTTTTTTTTTTTTTT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76310369	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0278 a0001c0001t0006g0278	1	336	0.0030	19	c.39+ others(32): Show c.39+962_39+980dupTTTTTTTTTTTTTTTTTTT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76311931	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02818.hp2 HG02809.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0107 a0001c0001t0003g0109	2	336	0.0060	19	c.-54 others(28): Show c.-544_-543insAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		463		chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00733.hp1 HG00735.hp2 others(17): Show HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01175.hp2 HG02015.hp2 HG02683.hp1 HG02886.hp1 HG03209.hp1 HG03688.hp2 HG03942.hp1 HG04115.hp1 NA18944.hp1 NA18944.hp2 NA18952.hp2 NA18972.hp1 NA18980.hp2 NA18988.hp1 NA18989.hp2 NA19074.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0039 others(17): Show a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0002g0136 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0221 a0001c0001t0003g0025 a0001c0001t0003g0026	20	336	0.0595	19	c.-54 others(28): Show c.-545_-544insAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETFRF1_chr12_25190237_25210143	25202063	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19070.hp2 HG00597.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0129 a0001c0001t0001g0082 a0001c0001t0001g0129	2	390	0.0051	19	c.-37 others(36): Show c.-37-1855_-37-1837dupAAAAAAAAAAAAAAAAAAA	ETFRF1	ENSG00000205707.11	transcript	ENST00000381356.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETHE1_chr19_43501719_43532201	43503285	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	408	0.0025	19	c.35 others(30): Show c.3546_*3564dupGAGAGAGAGAGAGAGAGAG	ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding		3433		chr19	TogoVar
ETNK2_chr1_204126062_204157044	204144345	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp1 NA18952.hp2 others(2): Show HG01891.hp2 HG03225.hp1 NA18952.hp2 NA18962.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0279 others(2): Show a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0279 a0001c0001t0001g0290 a0001c0001t0003g0173	5	422	0.0119	19	c.641 others(36): Show c.641+2278_641+2296dupTTTTTTTTTTTTTTTTTTT	ETNK2	ENSG00000143845.15	transcript	ENST00000367202.9	protein_coding	3/7			chr1	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(12): Show GATATATATATTTTATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	378	0.0027	19	c.701 others(34): Show c.701+321_701+322insATATATAAAATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(12): Show GATATATATTTTATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0308 a0002c0002t0001g0308	1	378	0.0027	19	c.701 others(34): Show c.701+321_701+322insATATATATAAAATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETV1_chr7_13886229_13994666	13896693	A A	AGAGAGAG others(12): Show AGAGAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(82): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00735.hp2 HG01071.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01928.hp2 HG01978.hp2 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04204.hp1 NA18522.hp1 NA18946.hp2 NA18949.hp2 NA18971.hp2 NA18981.hp1 NA18984.hp2 NA18992.hp2 NA19002.hp2 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19084.hp1 NA19085.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0002t0012 a0002c0002t0014 a0002c0002t0017 a0002c0002t0018 a0002c0002t0027 a0002c0002t0031 a0002c0002t0034	a0001c0001t0001g0157 a0001c0001t0001g0184 a0001c0001t0001g0185 others(82): Show a0001c0001t0001g0157 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0201 a0001c0001t0001g0224 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0060 a0001c0001t0002g0082 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0119 a0001c0001t0002g0283 a0001c0001t0010g0040 a0001c0001t0010g0045 a0001c0001t0010g0069 a0001c0001t0010g0083 a0001c0001t0010g0084 a0001c0001t0010g0085 a0001c0001t0010g0126 a0001c0001t0010g0301 a0001c0001t0012g0297 a0001c0001t0012g0298 a0001c0001t0014g0025 a0001c0001t0014g0044 a0001c0001t0015g0132 a0001c0001t0015g0136 a0001c0001t0015g0138 a0001c0001t0015g0139 a0001c0001t0016g0268 a0001c0001t0017g0023 a0001c0001t0017g0042 a0001c0001t0018g0100 a0001c0001t0019g0152 a0001c0001t0019g0153 a0001c0001t0020g0133 a0001c0001t0020g0239 a0001c0001t0020g0252 a0001c0001t0027g0256 a0001c0001t0028g0240 a0001c0001t0028g0241 a0001c0001t0036g0095 a0001c0001t0039g0086 a0001c0001t0040g0011 a0001c0001t0045g0113 a0001c0001t0046g0072 a0001c0001t0051g0237 a0001c0001t0054g0195 a0001c0001t0055g0257 a0001c0003t0002g0073 a0002c0002t0001g0131 a0002c0002t0001g0158 a0002c0002t0001g0198 a0002c0002t0001g0203 a0002c0002t0001g0209 a0002c0002t0001g0213 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0002g0070 a0002c0002t0002g0111 a0002c0002t0010g0116 a0002c0002t0012g0033 a0002c0002t0012g0052 a0002c0002t0012g0055 a0002c0002t0014g0314 a0002c0002t0017g0037 a0002c0002t0017g0039 a0002c0002t0018g0299 a0002c0002t0027g0242 a0002c0002t0031g0005 a0002c0002t0034g0311	85	320	0.2656	19	c.121 others(36): Show c.1213-625_1213-607dupCTTTCTTTCTTTCTCTCTC	ETV1	ENSG00000006468.15	transcript	ENST00000430479.6	protein_coding	13/13			chr7	TogoVar
ETV1_chr7_13886229_13994666	13896700	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAGGAGAGAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0316 a0001c0001t0018g0316	1	320	0.0031	19	c.121 others(36): Show c.1213-614_1213-613insGTCTCTCCTTTCTTTCTTT	ETV1	ENSG00000006468.15	transcript	ENST00000430479.6	protein_coding	13/13			chr7	TogoVar
ETV1_chr7_13886229_13994666	13896789	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0002 a0001c0001t0030g0002	1	320	0.0031	19	c.121 others(36): Show c.1213-703_1213-702insCTTTCTTTCTTTCTTTCTT	ETV1	ENSG00000006468.15	transcript	ENST00000430479.6	protein_coding	13/13			chr7	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG02647.hp2 others(9): Show HG00323.hp1 HG01256.hp1 HG02647.hp2 HG02818.hp1 HG02896.hp1 HG03654.hp2 HG03927.hp2 NA18983.hp1 NA19030.hp1 NA19030.hp2 NA19074.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0002g0002	12	438	0.0274	19	c.-32 others(30): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
ETV6_chr12_11644674_11900377	11784862	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0205 a0001c0002t0005g0205	1	262	0.0038	19	c.163 others(38): Show c.163+32289_163+32307dupTTTTTTTTTTTTTTTTTTT	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETV6_chr12_11644674_11900377	11883276	C C	CCTTTTTT others(12): Show CCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0087 a0001c0001t0069g0087	1	262	0.0038	19	c.101 others(38): Show c.1010-1169_1010-1168insCTTTTTTTTTTTTTTTTTT	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	5/7			chr12	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02071.hp1 HG02056.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0272 a0001c0001t0002g0273	2	384	0.0052	19	c.-19 others(38): Show c.-192+5343_-192+5344insGAGAGAGAGAGAGAGAGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1A_chr2_75487318_75565939	75555337	C C	CTCTCTCT others(12): Show CTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18966.hp2 NA19007.hp2 HG02615.hp1 NA18966.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0004 a0001c0002t0005g0043 a0001c0002t0005g0004 a0001c0002t0005g0043	3	384	0.0078	19	c.-19 others(38): Show c.-192+5342_-192+5343insAGAGAGAGAGAGAGAGAGA	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1C_chr21_32407706_32520387	32430972	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0001 a0010c0026t0001	a0010c0026t0001g0082 a0010c0026t0001g0082	1	346	0.0029	19	c.160 others(38): Show c.160+17970_160+17971insAAAAAAAAAAAAAAAAAAA	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32448914	A A	AAGAAAGA others(12): Show AAGAAAGAAAGAAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	346	0.0029	19	c.161 others(36): Show c.161-4395_161-4394insAAGAAAGAAAGAAGAGAGA	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32477781	C C	CCCTCCCC others(12): Show CCCTCCCCCGTACGCCCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(47): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01192.hp1 HG01346.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02071.hp2 HG02129.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp1 HG02886.hp1 HG03492.hp1 HG03834.hp1 HG03942.hp1 NA18612.hp1 NA18944.hp2 NA18947.hp1 NA18956.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18980.hp2 NA18986.hp1 NA18991.hp2 NA18993.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19063.hp1 NA19080.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0023 a0002c0022	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0011t0001 a0001c0023t0001 a0002c0022t0002	a0001c0001t0001g0091 a0001c0001t0001g0158 a0001c0001t0001g0179 others(46): Show a0001c0001t0001g0091 a0001c0001t0001g0158 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0001g0337 a0001c0001t0001g0345 a0001c0002t0001g0003 a0001c0002t0001g0108 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0165 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0181 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0197 a0001c0002t0001g0221 a0001c0002t0001g0225 a0001c0002t0001g0247 a0001c0002t0001g0305 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0007t0001g0160 a0001c0007t0001g0264 a0001c0007t0001g0265 a0001c0007t0001g0274 a0001c0011t0001g0001 a0001c0011t0001g0277 a0001c0023t0001g0110 a0002c0022t0002g0103	50	346	0.1445	19	c.634 others(36): Show c.634+9951_634+9952insACCTCCCCCGTACGCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32477861	C C	CCCCTCCC others(12): Show CCCCTCCCCTCCCCCGTACG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18986.hp1 NA19063.hp1 others(1): Show NA18956.hp1 NA18986.hp1 NA19063.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0091 a0001c0001t0001g0198 a0001c0002t0001g0197 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0198 a0001c0002t0001g0197 a0001c0002t0001g0225	4	346	0.0116	19	c.634 others(38): Show c.634+10038_634+10056dupCCCTCCCCCGTACGCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVI5_chr1_92503696_92790108	92550777	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	168	0.0060	19	c.216 others(40): Show c.2166+12864_2166+12865insATATATATATATATATATA	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	19/19			chr1	TogoVar
EVI5_chr1_92503696_92790108	92550781	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0026 a0001c0001t0008g0026	1	168	0.0060	19	c.216 others(40): Show c.2166+12860_2166+12861insATATATATATATATATATA	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	19/19			chr1	TogoVar
EVI5_chr1_92503696_92790108	92565948	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0029 a0001c0001t0025g0029	1	168	0.0060	19	c.207 others(38): Show c.2071-2230_2071-2212dupTTTTTTTTTTTTTTTTTTT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	18/19			chr1	TogoVar
EVI5_chr1_92503696_92790108	92669547	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03209.hp2 others(2): Show HG03041.hp1 HG03209.hp1 HG03209.hp2 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0054 a0001c0001t0005 a0001c0001t0022 a0001c0001t0054	a0001c0001t0005g0049 a0001c0001t0005g0149 a0001c0001t0022g0134 others(2): Show a0001c0001t0005g0049 a0001c0001t0005g0149 a0001c0001t0022g0134 a0001c0001t0022g0135 a0001c0001t0054g0023	5	168	0.0298	19	c.115 others(38): Show c.1159-3556_1159-3555insTTTTTTTTTTTTTTTTTTT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	10/19			chr1	TogoVar
EVPLL_chr17_18372778_18394647	18373800	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01261.hp1 HG01515.hp2 others(14): Show HG01256.hp2 HG01261.hp1 HG01515.hp2 HG02004.hp1 HG02273.hp1 HG02735.hp1 NA18747.hp1 NA18944.hp2 NA18966.hp1 NA18966.hp2 NA18978.hp1 NA18987.hp1 NA18990.hp1 NA18993.hp1 NA19007.hp2 NA19066.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0002 a0002c0001t0001 a0001c0003t0002 a0002c0001t0001	a0001c0003t0002g0003 a0001c0003t0002g0037 a0001c0003t0002g0039 others(7): Show a0001c0003t0002g0003 a0001c0003t0002g0037 a0001c0003t0002g0039 a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0009 a0002c0001t0001g0023 a0002c0001t0001g0024 a0002c0001t0001g0077 a0002c0001t0001g0078	17	408	0.0417	19	c.-42 others(30): Show c.-4220_-4219insAAAAAAAAAAAAAAAAAAA	EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding		3977		chr17	TogoVar
EVX2_chr2_176072472_176088962	176084416	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	430	0.0023	19	c.-64 others(28): Show c.-641_-640insAAAAAAAAAAAAAAAAAAA	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		455		chr2	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA18522.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0006 a0001c0001t0004 a0001c0004t0006	a0001c0001t0004g0010 a0001c0004t0006g0012 a0001c0001t0004g0010 a0001c0004t0006g0012	2	430	0.0047	19	c.-64 others(28): Show c.-646_-645insAAAAAAAAAAAAAAAAAAA	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		460		chr2	TogoVar
EVX2_chr2_176072472_176088962	176084756	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	430	0.0023	19	c.-98 others(28): Show c.-981_-980insCTCTCTCTCTCTCTCTCTC	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		795		chr2	TogoVar
EWSR1_chr22_29263268_29305521	29263811	G G	GCCCCCCC others(12): Show GCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	390	0.0026	19	c.-45 others(30): Show c.-4526_-4525insCCCCCCCCCCCCCCCCCCC	EWSR1	ENSG00000182944.18	transcript	ENST00000397938.7	protein_coding		4456		chr22	TogoVar
EXD3_chr9_137301896_137428162	137329432	A A	ACTACACG others(12): Show ACTACACGGGGTCACACGGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0024 a0024	a0024c0017 a0024c0017	a0024c0017t0001 a0024c0017t0001	a0024c0017t0001g0007 a0024c0017t0001g0007	1	82	0.0122	19	c.199 others(38): Show c.1999-5290_1999-5289insCCCGTGTGACCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329464	A A	ACTACACG others(12): Show ACTACACGGGGCTACACGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01975.hp2 HG02976.hp1 others(1): Show HG00741.hp2 HG01975.hp2 HG02976.hp1 HG03139.hp1	a0002 a0023 a0026 a0002 a0023 a0026	a0002c0002 a0023c0016 a0026c0025 a0002c0002 a0023c0016 a0026c0025	a0002c0002t0001 a0023c0016t0001 a0026c0025t0001 a0002c0002t0001 a0023c0016t0001 a0026c0025t0001	a0002c0002t0001g0030 a0002c0002t0001g0031 a0023c0016t0001g0019 others(1): Show a0002c0002t0001g0030 a0002c0002t0001g0031 a0023c0016t0001g0019 a0026c0025t0001g0071	4	82	0.0488	19	c.199 others(38): Show c.1999-5322_1999-5321insCCCGTGTAGCCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137346238	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0005 a0008c0020t0001g0005	1	82	0.0122	19	c.199 others(38): Show c.1998+1814_1998+1832dupTTTTTTTTTTTTTTTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137382132	G G	GGGAGGAG others(12): Show GGGAGGAGGTGGGAGCATGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18522.hp1 HG03041.hp1 NA18522.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0006 a0012c0012t0001g0046 a0012c0012t0001g0006 a0012c0012t0001g0046	2	82	0.0244	19	c.120 others(36): Show c.120+1180_120+1181insGCATGCTCCCACCTCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137382170	C C	CGGAGGAG others(12): Show CGGAGGAGGTGAGGGCGCGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(41): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02129.hp2 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18951.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0011 a0014 a0018 a0019 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031	a0001c0001 a0002c0002 a0003c0003 others(20): Show a0001c0001 a0002c0002 a0003c0003 a0004c0007 a0004c0009 a0004c0021 a0005c0005 a0009c0008 a0010c0006 a0011c0011 a0014c0029 a0018c0022 a0019c0019 a0022c0015 a0023c0016 a0024c0017 a0025c0024 a0026c0025 a0027c0035 a0028c0034 a0029c0036 a0030c0032 a0031c0033	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(20): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0007t0001 a0004c0009t0001 a0004c0021t0001 a0005c0005t0001 a0009c0008t0001 a0010c0006t0001 a0011c0011t0001 a0014c0029t0001 a0018c0022t0001 a0019c0019t0001 a0022c0015t0001 a0023c0016t0001 a0024c0017t0001 a0025c0024t0001 a0026c0025t0001 a0027c0035t0001 a0028c0034t0001 a0029c0036t0001 a0030c0032t0001 a0031c0033t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0061 others(41): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0061 a0002c0002t0001g0011 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0056 a0002c0002t0001g0062 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0081 a0003c0003t0001g0025 a0003c0003t0001g0037 a0003c0003t0001g0041 a0003c0003t0001g0068 a0003c0003t0001g0073 a0004c0007t0001g0002 a0004c0007t0001g0023 a0004c0009t0001g0014 a0004c0009t0001g0065 a0004c0021t0001g0069 a0005c0005t0001g0053 a0009c0008t0001g0012 a0009c0008t0001g0013 a0010c0006t0001g0008 a0011c0011t0001g0020 a0014c0029t0001g0024 a0018c0022t0001g0038 a0019c0019t0001g0022 a0022c0015t0001g0072 a0023c0016t0001g0019 a0024c0017t0001g0007 a0025c0024t0001g0049 a0026c0025t0001g0071 a0027c0035t0001g0040 a0028c0034t0001g0067 a0029c0036t0001g0003 a0030c0032t0001g0054 a0031c0033t0001g0017	44	82	0.5366	19	c.120 others(36): Show c.120+1142_120+1143insACGCGCCCTCACCTCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137408546	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02004.hp2 HG02896.hp2 others(2): Show HG00099.hp2 HG02004.hp2 HG02896.hp2 HG03017.hp2 NA18522.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0014 a0030	a0001c0001 a0003c0003 a0004c0007 others(2): Show a0001c0001 a0003c0003 a0004c0007 a0014c0029 a0030c0032	a0001c0001t0001 a0003c0003t0001 a0004c0007t0001 others(2): Show a0001c0001t0001 a0003c0003t0001 a0004c0007t0001 a0014c0029t0001 a0030c0032t0001	a0001c0001t0001g0016 a0003c0003t0001g0025 a0004c0007t0001g0002 others(2): Show a0001c0001t0001g0016 a0003c0003t0001g0025 a0004c0007t0001g0002 a0014c0029t0001g0024 a0030c0032t0001g0054	5	82	0.0610	19	c.-47 others(38): Show c.-47-13161_-47-13143dupTTTTTTTTTTTTTTTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXOC1_chr4_55848648_55910086	55861992	T T	TGCAGTGA others(12): Show TGCAGTGAGCCGAGATTGCG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02258.hp1 HG02280.hp2 others(2): Show HG01167.hp2 HG02258.hp1 HG02280.hp2 HG02723.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 others(2): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253	5	376	0.0133	19	c.255 others(36): Show c.255+1452_255+1470dupGCAGTGAGCCGAGATTGCG	EXOC1	ENSG00000090989.18	transcript	ENST00000381295.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
EXOC2_chr6_480154_698139	501100	A A	ATATATAT others(12): Show ATATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02109.hp1 HG02630.hp1 others(5): Show HG00609.hp1 HG02109.hp1 HG02630.hp1 HG02717.hp1 HG02976.hp2 HG03139.hp1 HG03516.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0019 a0001c0001 a0001c0003 a0001c0019	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0003t0002 a0001c0003t0003 a0001c0019t0007	a0001c0001t0003g0124 a0001c0001t0005g0195 a0001c0001t0007g0150 others(5): Show a0001c0001t0003g0124 a0001c0001t0005g0195 a0001c0001t0007g0150 a0001c0001t0007g0212 a0001c0003t0002g0155 a0001c0003t0003g0161 a0001c0003t0003g0169 a0001c0019t0007g0186	8	272	0.0294	19	c.238 others(38): Show c.2381-1419_2381-1401dupGATATATATAATATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501202	T T	TTATATAT others(12): Show TTATATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	272	0.0037	19	c.238 others(38): Show c.2381-1521_2381-1503dupTATATATAATATATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501447	C C	CTATATAT others(12): Show CTATATATTATATATATCTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp1 HG02015.hp2 others(5): Show HG00323.hp2 HG01255.hp1 HG02015.hp2 HG02257.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0012 a0001c0003t0001	a0001c0001t0001g0049 a0001c0001t0001g0078 a0001c0001t0002g0197 others(5): Show a0001c0001t0001g0049 a0001c0001t0001g0078 a0001c0001t0002g0197 a0001c0001t0004g0141 a0001c0002t0001g0030 a0001c0002t0001g0054 a0001c0002t0012g0039 a0001c0003t0001g0207	8	272	0.0294	19	c.238 others(38): Show c.2381-1766_2381-1748dupTAGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	658666	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	272	0.0037	19	c.-43 others(38): Show c.-43-20806_-43-20805insTATATATATATATATATAT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC3L2_chr19_45207370_45250407	45226747	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	356	0.0028	19	c.158 others(36): Show c.1583+896_1583+914dupAAAAAAAAAAAAAAAAAAA	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding	7/11			chr19	TogoVar
EXOC3L2_chr19_45207370_45250407	45245739	C C	CGGGGGGG others(12): Show CGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG04228.hp2 NA20805.hp1 HG02735.hp2 HG04228.hp2 NA20805.hp1	a0003 a0003	a0003c0004 a0003c0015 a0003c0004 a0003c0015	a0003c0004t0003 a0003c0004t0006 a0003c0015t0001 a0003c0004t0003 a0003c0004t0006 a0003c0015t0001	a0003c0004t0003g0319 a0003c0004t0006g0327 a0003c0015t0001g0316 a0003c0004t0003g0319 a0003c0004t0006g0327 a0003c0015t0001g0316	3	356	0.0084	19	c.-41 others(28): Show c.-416_-415insCCCCCCCCCCCCCCCCCCC	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding		333		chr19	TogoVar
EXOC3_chr5_438176_472290	441497	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA19043.hp1 NA18947.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0007 a0001c0001t0001g0020	2	418	0.0048	19	c.-18 others(30): Show c.-1850_-1849insTTTTTTTTTTTTTTTTTTT	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		1678		chr5	TogoVar
EXOC4_chr7_133248078_134070761	133516758	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp2 HG01192.hp2 others(7): Show HG00423.hp2 HG00738.hp2 HG01192.hp2 HG01261.hp2 HG02109.hp1 HG03516.hp2 HG03704.hp1 HG04184.hp1 NA18983.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0031 a0001c0001t0001g0061 a0001c0001t0003g0070 others(7): Show a0001c0001t0001g0031 a0001c0001t0001g0061 a0001c0001t0003g0070 a0001c0001t0005g0034 a0001c0001t0009g0001 a0001c0001t0017g0094 a0001c0002t0001g0092 a0001c0004t0001g0009 a0001c0004t0001g0062 a0001c0004t0002g0030	10	102	0.0980	19	c.141 others(40): Show c.1417+36634_1417+36635insTTTTTTTTTTTTTTTTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133604706	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0065 a0001c0002t0006g0065	1	102	0.0098	19	c.141 others(40): Show c.1418-25336_1418-25335insTTTTTTTTTTTTTTTTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)