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.

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
ELMO1_chr7_36847906_37453864	37386566	AAGTAGAG others(28): Show AAGTAGAGATCCAGGGTCCACACTCAGGTCAGGTTT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0087 a0001c0002t0002g0087	1	92	0.0109	-35	c.-73 others(54): Show c.-73-43838_-73-43804delAAACCTGACCTGAGTGTGGACCCTGG ATCTCTACT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	1/21			chr7	TogoVar
ELOVL7_chr5_60746791_60849269	60819069	GGGAGGGG others(28): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02735.hp1 HG03098.hp2 others(1): Show HG01175.hp2 HG02735.hp1 HG03098.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0023 a0001c0001t0006 a0001c0001t0023	a0001c0001t0006g0145 a0001c0001t0006g0165 a0001c0001t0006g0204 others(1): Show a0001c0001t0006g0145 a0001c0001t0006g0165 a0001c0001t0006g0204 a0001c0001t0023g0164	4	258	0.0155	-35	c.-85 others(54): Show c.-85-19874_-85-19840delTCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60819099	GGGAGAGG others(28): Show GGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0031 a0001c0001t0007g0031	1	258	0.0039	-35	c.-85 others(54): Show c.-85-19904_-85-19870delTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELP4_chr11_31504767_31795324	31601180	TTTTTTAG others(28): Show TTTTTTAGAGGAAATGTCTAAGTCTTTGTTTTATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02258.hp2 others(5): Show HG01891.hp2 HG02145.hp2 HG02258.hp2 HG02615.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 others(3): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0052 a0001c0001t0062 a0001c0001t0081	a0001c0001t0005g0264 a0001c0001t0008g0269 a0001c0001t0008g0270 others(5): Show a0001c0001t0005g0264 a0001c0001t0008g0269 a0001c0001t0008g0270 a0001c0001t0017g0266 a0001c0001t0017g0268 a0001c0001t0052g0267 a0001c0001t0062g0265 a0001c0001t0081g0223	8	270	0.0296	-35	c.514 others(52): Show c.514-2585_514-2551delTTTAGAGGAAATGTCTAAGTCTTTGTTT TATAATT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48003886	CTTCTATT others(28): Show CTTCTATTCTATTCTATTCTATTCTATTCTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0015 a0009c0012t0001g0015	1	388	0.0026	-35	c.-17 others(52): Show c.-17-4725_-17-4691delATTCTATTCTATTCTATTCTATTCTATT CTATTCT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC1_chr1_19210660_19256524	19255248	CTTTGGGA others(28): Show CTTTGGGAGGCCAAGTGGGTCAGACAGCTTGAGTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	350	0.0029	-35	c.-37 others(46): Show c.-3774_-3740delAGACTCAAGCTGTCTGACCCACTTGGCCTCCCAA A	EMC1	ENSG00000127463.16	transcript	ENST00000477853.6	protein_coding		3725		chr1	TogoVar
EMC7_chr15_34079017_34106862	34089920	CACTCCAG others(28): Show CACTCCAGCCTGGCCAACAAGAGCGAAACCCCGTCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	410	0.0024	-35	c.495 others(50): Show c.495+362_495+396delAGACGGGGTTTCGCTCTTGTTGGCCAGGCT GGAGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	3/4			chr15	TogoVar
ENOSF1_chr18_665318_717630	666895	GGTGATGG others(28): Show GGTGATGGAGATGGTGATGGTGATGGAGATGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	418	0.0024	-35	c.73 others(46): Show c.7375_*7409delATCACCATCTCCATCACCATCACCATCTCCATCA C	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3422		chr18	TogoVar
ENOSF1_chr18_665318_717630	667263	AGATGGTG others(28): Show AGATGGTGATGGTGATGGGATGGTGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02293.hp1 HG02300.hp2 HG02040.hp2 HG02293.hp1 HG02300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0187 a0001c0001t0002g0202 a0002c0002t0002g0231 a0001c0001t0002g0187 a0001c0001t0002g0202 a0002c0002t0002g0231	3	418	0.0072	-35	c.70 others(46): Show c.7007_*7041delACCATCTCCATCACCATCCCATCACCATCACCAT C	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3054		chr18	TogoVar
EPCAM_chr2_47364311_47392020	47365508	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01361.hp2 HG01516.hp2 others(1): Show HG01106.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0234 others(1): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0234 a0001c0001t0002g0235	4	450	0.0089	-35	c.-39 others(46): Show c.-3997_-3963delTATATATATATATATATATATATATATTTTTTTT T	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3802		chr2	TogoVar
EPHA2_chr1_16119337_16161069	16136657	AGAAGAAA others(28): Show AGAAGAAAAGAAGAAAAGAAGAAGAAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02572.hp1 HG02809.hp2 others(4): Show HG02300.hp1 HG02572.hp1 HG02809.hp2 HG02818.hp1 HG02976.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0015 a0001c0018 a0001c0032	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0015t0001 a0001c0018t0002 a0001c0032t0001	a0001c0001t0001g0268 a0001c0003t0001g0218 a0001c0004t0001g0161 others(4): Show a0001c0001t0001g0268 a0001c0003t0001g0218 a0001c0004t0001g0161 a0001c0004t0001g0267 a0001c0015t0001g0253 a0001c0018t0002g0228 a0001c0032t0001g0032	7	312	0.0224	-35	c.131 others(52): Show c.1313-922_1313-888delCTCTTCTTCTTTCTTCTTCTTTTCTTCT TTTCTTC	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16			chr1	TogoVar
EPHA2_chr1_16119337_16161069	16136692	GGAAGAAG others(28): Show GGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0003 a0002c0035t0003	a0002c0035t0003g0252 a0002c0035t0003g0252	1	312	0.0032	-35	c.131 others(52): Show c.1313-957_1313-923delTTCTTCTTCTTCTTTTCTTCTTCTTCTT CTTCTTC	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16			chr1	TogoVar
EPHA3_chr3_89102621_89487134	89138181	ATTGGATT others(28): Show ATTGGATTTTACAATAAACACACAGGAAGAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02486.hp1 HG03516.hp1 others(1): Show HG00642.hp1 HG02486.hp1 HG03516.hp1 NA20129.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0037 a0002c0006t0002g0064 a0002c0006t0002g0065 others(1): Show a0002c0006t0002g0037 a0002c0006t0002g0064 a0002c0006t0002g0065 a0002c0006t0002g0066	4	200	0.0200	-35	c.153 others(54): Show c.153+10909_153+10943delTTGGATTTTACAATAAACACACAGGA AGAGAAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16			chr3	TogoVar
EPHA4_chr2_221413027_221577304	221565448	AGCTTAAG others(28): Show AGCTTAAGTATTTAACAAACATATGAATATAATTAG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	294	0.0034	-35	c.160 others(52): Show c.160-1089_160-1055delCTAATTATATTCATATGTTTGTTAAATA CTTAAGC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA6_chr3_96809594_97766532	97492630	AGCTAAGG others(28): Show AGCTAAGGAAAGTATAATATATAAGGTAGAAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp2 HG03130.hp2 HG02280.hp2 HG02965.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005	a0001c0002t0001g0078 a0001c0002t0004g0079 a0001c0002t0005g0055 a0001c0002t0001g0078 a0001c0002t0004g0079 a0001c0002t0005g0055	3	82	0.0366	-35	c.220 others(54): Show c.2200+8573_2200+8607delCTAAGGAAAGTATAATATATAAGGTA GAAAGGAGG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPS8L2_chr11_701231_732727	720970	GGGGAGGA others(28): Show GGGGAGGAGCCGGCAGGGGAGGGGAGGAGCCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0318 a0001c0002t0019g0318	1	406	0.0025	-35	c.557 others(48): Show c.557+68_558-53delAGCCGGCAGGGGAGGGGAGGAGCCCGGCAGGG AGG	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ERBB4_chr2_211370717_212543802	211861016	TTATATAT others(28): Show TTATATATATATAAATATAATATATTTATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp1 HG02965.hp2 HG02145.hp2 HG02895.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0029 a0001c0001t0004 a0001c0001t0019 a0001c0001t0029	a0001c0001t0004g0011 a0001c0001t0019g0002 a0001c0001t0029g0054 a0001c0001t0004g0011 a0001c0001t0019g0002 a0001c0001t0029g0054	3	56	0.0536	-35	c.422 others(54): Show c.422-72892_422-72858delTAAATATATAAATATATTATATTTAT ATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015042	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp2 HG01496.hp2 others(1): Show HG01069.hp2 HG01243.hp2 HG01496.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0013 a0001c0002t0018 a0001c0002t0001 a0001c0002t0013 a0001c0002t0018	a0001c0002t0001g0030 a0001c0002t0001g0037 a0001c0002t0013g0027 others(1): Show a0001c0002t0001g0030 a0001c0002t0001g0037 a0001c0002t0013g0027 a0001c0002t0018g0010	4	56	0.0714	-35	c.235 others(54): Show c.235-67461_235-67427delATATATATATATATATATATATATAT ATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1090899	ATTATTAT others(28): Show ATTATTATTATTATCATTTGTGACAGAGCTTTGCTC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG02615.hp1 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0019 a0002c0002t0017 a0001c0001t0019 a0002c0002t0017	a0001c0001t0019g0120 a0002c0002t0017g0097 a0001c0001t0019g0120 a0002c0002t0017g0097	2	162	0.0124	-35	c.108 others(54): Show c.1086+7321_1086+7355delTATTATTATTATCATTTGTGACAGAG CTTTGCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERI3_chr1_44216070_44360257	44342835	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0223 a0001c0001t0001g0224	2	340	0.0059	-35	c.212 others(52): Show c.212-3548_212-3514delAAAAAAAAAAAAATATATATATATATAT ATATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342837	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02895.hp1 HG01243.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0225 a0001c0001t0001g0226	2	340	0.0059	-35	c.212 others(52): Show c.212-3550_212-3516delAAAAAAAAAAAAAAATATATATATATAT ATATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	700417	GCCCGCAG others(28): Show GCCCGCAGACGCGCACAGGCCCTCACAGGCCACAGA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01361.hp1 others(14): Show HG01256.hp1 HG01258.hp1 HG01361.hp1 HG02040.hp1 HG04199.hp1 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18950.hp2 NA18970.hp2 NA18983.hp2 NA19011.hp2 NA19080.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0036 a0001c0001t0001g0061 a0001c0001t0001g0063 others(13): Show a0001c0001t0001g0036 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0002t0001g0005 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0106 a0001c0002t0002g0270	17	378	0.0450	-35	c.170 others(52): Show c.170-7840_170-7806delTCTGTGGCCTGTGAGGGCCTGTGCGCGT CTGCGGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700435	GCCCTCAC others(28): Show GCCCTCACAGGCCACAGACCCGCACAGGCGCACAGA	G G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	378	0.0027	-35	c.170 others(52): Show c.170-7858_170-7824delTCTGTGCGCCTGTGCGGGTCTGTGGCCT GTGAGGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH6_chr3_150654885_150708920	150704808	ATATATTA others(28): Show ATATATTATATTATATTATATTATATTATATTATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02109.hp1 HG02145.hp2 others(23): Show HG01192.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA19240.hp2	a0006 a0009 a0010 others(5): Show a0006 a0009 a0010 a0011 a0016 a0018 a0034 a0035	a0006c0008 a0009c0012 a0010c0011 others(5): Show a0006c0008 a0009c0012 a0010c0011 a0011c0013 a0016c0018 a0018c0022 a0034c0040 a0035c0039	a0006c0008t0001 a0009c0012t0001 a0010c0011t0001 others(7): Show a0006c0008t0001 a0009c0012t0001 a0010c0011t0001 a0010c0011t0002 a0011c0013t0001 a0011c0013t0002 a0016c0018t0001 a0018c0022t0001 a0034c0040t0001 a0035c0039t0001	a0006c0008t0001g0326 a0006c0008t0001g0327 a0006c0008t0001g0328 others(23): Show a0006c0008t0001g0326 a0006c0008t0001g0327 a0006c0008t0001g0328 a0006c0008t0001g0330 a0006c0008t0001g0331 a0006c0008t0001g0333 a0006c0008t0001g0334 a0009c0012t0001g0315 a0009c0012t0001g0319 a0009c0012t0001g0320 a0009c0012t0001g0321 a0009c0012t0001g0322 a0010c0011t0001g0311 a0010c0011t0001g0317 a0010c0011t0001g0323 a0010c0011t0001g0325 a0010c0011t0002g0318 a0011c0013t0001g0313 a0011c0013t0001g0314 a0011c0013t0001g0316 a0011c0013t0002g0312 a0016c0018t0001g0310 a0016c0018t0001g0324 a0018c0022t0001g0022 a0034c0040t0001g0332 a0035c0039t0001g0329	26	348	0.0747	-35	c.-94 others(44): Show c.-945_-911delATATAATATAATATAATATAATATAATATAATATA	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding		889		chr3	TogoVar
ESCO2_chr8_27769554_27810316	27802621	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp2 NA19070.hp2 HG01192.hp2 HG01346.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0001 a0002c0002t0007	a0002c0002t0001g0087 a0002c0002t0007g0081 a0002c0002t0007g0083 a0002c0002t0001g0087 a0002c0002t0007g0081 a0002c0002t0007g0083	3	380	0.0079	-35	c.167 others(52): Show c.1674-684_1674-650delAAAAAAAAAATATATATATATATATATA TATATAT	ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10			chr8	TogoVar
ESCO2_chr8_27769554_27810316	27802622	AAAAAAAA others(28): Show AAAAAAAAAATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02683.hp2 HG02896.hp2 others(1): Show HG02109.hp1 HG02683.hp2 HG02896.hp2 NA18978.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0021 a0002c0002t0001 a0002c0002t0007 a0001c0004t0021 a0002c0002t0001 a0002c0002t0007	a0001c0004t0021g0102 a0001c0004t0021g0103 a0002c0002t0001g0088 others(1): Show a0001c0004t0021g0102 a0001c0004t0021g0103 a0002c0002t0001g0088 a0002c0002t0007g0094	4	380	0.0105	-35	c.167 others(52): Show c.1674-682_1674-648delAAAAAAAATATATATATATATATATATA TATATTA	ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESCO2_chr8_27769554_27810316	27802624	AAAAAAAA others(28): Show AAAAAAAATATATATATATATATATATATATATTAT	A A	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0065 a0003c0003t0012g0065	1	380	0.0026	-35	c.167 others(52): Show c.1674-680_1674-646delAAAAAATATATATATATATATATATATA TATTATA	ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRG_chr1_216498251_216728429	216569170	GGGAAGGG others(28): Show GGGAAGGGAAGGGAAGGGAAGGGAAAGGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0255 a0001c0001t0005g0255	1	286	0.0035	-35	c.590 others(52): Show c.590-1107_590-1073delTTTCCTTTCCTTTCCCTTCCCTTCCCTT CCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216658848	AAGAAGAG others(28): Show AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00597.hp2 others(29): Show HG00099.hp1 HG00140.hp2 HG00597.hp2 HG00733.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01981.hp1 HG02004.hp1 HG02148.hp2 HG02559.hp1 HG02698.hp1 HG02738.hp2 HG03017.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp1 NA18940.hp1 NA18960.hp2 NA18978.hp1 NA18979.hp2 NA18993.hp1 NA19004.hp1 NA19062.hp2 NA19064.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0201 others(29): Show a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0274 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0026g0188 a0001c0002t0001g0112 a0001c0002t0001g0152 a0001c0002t0001g0192 a0001c0002t0001g0203 a0001c0002t0001g0214 a0001c0002t0002g0139 a0001c0002t0002g0155 a0001c0002t0002g0184 a0001c0002t0002g0198 a0001c0002t0002g0202 a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0209 a0001c0002t0002g0213 a0001c0002t0002g0275 a0001c0002t0002g0278 a0001c0002t0008g0195 a0001c0002t0008g0212	32	286	0.1119	-35	c.473 others(52): Show c.473-7794_473-7760delCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	2/6			chr1	TogoVar
ESYT2_chr7_158725997_158834509	158804020	CGAGAAGG others(28): Show CGAGAAGGGTGAGGCGCGCGACAAACCCAAACTGTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02257.hp1 HG02258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0027 a0001c0001 a0002c0027	a0001c0001t0017 a0002c0027t0044 a0001c0001t0017 a0002c0027t0044	a0001c0001t0017g0193 a0002c0027t0044g0194 a0001c0001t0017g0193 a0002c0027t0044g0194	2	370	0.0054	-35	c.331 others(52): Show c.331-4983_331-4949delAACAGTTTGGGTTTGTCGCGCGCCTCAC CCTTCTC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804264	CCGAGAAG others(28): Show CCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02280.hp2 HG01952.hp2 HG02280.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0012 a0002c0002t0002 a0003c0003t0012	a0002c0002t0002g0365 a0003c0003t0012g0321 a0002c0002t0002g0365 a0003c0003t0012g0321	2	370	0.0054	-35	c.331 others(52): Show c.331-5227_331-5193delACGGTTTGGGTTTGTCGCGCGCCTCACC CTTCTCG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT3_chr3_138429616_138484925	138482233	ATAAATAA others(28): Show ATAAATAATATTAAAACGACAATAATAGCTCTATAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	338	0.0030	-35	c.53 others(46): Show c.5380_*5414delTAAATAATATTAAAACGACAATAATAGCTCTATA C	ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding		2309		chr3	TogoVar
ETS2_chr21_38800929_38829955	38816007	GAAGGAGG others(28): Show GAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	426	0.0024	-35	c.506 others(51): Show c.506-1000_506-966delAAGGAGGGAGGGAGGGAAGGAAGGAAGGA AAGAAA	ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9			chr21	TogoVar
EVA1C_chr21_32407706_32520387	32468438	TAAGAATA others(28): Show TAAGAATAGTACCCAGCTCCCCTTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(157): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp1 NA19083.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0010	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0010 a0004c0016 a0005c0025 a0006c0017 a0010c0026	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0004t0001 a0001c0006t0001 a0001c0010t0001 a0004c0016t0001 a0005c0025t0001 a0006c0017t0001 a0010c0026t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(157): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0238 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0018 a0001c0002t0001g0040 a0001c0002t0001g0045 a0001c0002t0001g0057 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0089 a0001c0002t0001g0138 a0001c0002t0001g0229 a0001c0002t0001g0234 a0001c0002t0001g0240 a0001c0002t0001g0249 a0001c0002t0001g0253 a0001c0002t0001g0255 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0263 a0001c0002t0001g0291 a0001c0002t0001g0302 a0001c0002t0001g0306 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0324 a0001c0002t0001g0327 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0002g0258 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0271 a0001c0002t0002g0276 a0001c0002t0002g0322 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0004g0155 a0001c0004t0001g0027 a0001c0004t0001g0046 a0001c0004t0001g0280 a0001c0006t0001g0076 a0001c0006t0001g0077 a0001c0006t0001g0078 a0001c0010t0001g0147 a0001c0010t0001g0228 a0001c0010t0001g0250 a0001c0010t0001g0251 a0004c0016t0001g0313 a0005c0025t0001g0333 a0006c0017t0001g0028 a0010c0026t0001g0082	160	346	0.4624	-35	c.634 others(50): Show c.634+605_634+639delGCTCCCCTTTATATATATATAAAGAATAGT ACCCA	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32502017	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	346	0.0029	-35	c.859 others(50): Show c.859+540_859+574delTCTTTCTTTCTTTCTTTCTTCTTTCTTTCT TTCTT	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EXOC3L4_chr14_103089725_103115559	103109227	TCTCCACC others(28): Show TCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0001 a0004c0030t0001	a0004c0030t0001g0067 a0004c0030t0001g0067	1	404	0.0025	-35	c.197 others(52): Show c.1976+714_1976+748delCACCCTGTCCCCGTGTCTCCCTCCCTCC CTCCCTC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109327	CCTCCCTC others(28): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG01069.hp1 others(21): Show HG00621.hp2 HG00639.hp1 HG01069.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02273.hp1 HG02273.hp2 HG02615.hp1 HG02723.hp1 HG02738.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 NA18946.hp2 NA18950.hp2 NA19007.hp1 NA19060.hp2 NA19084.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0009 a0011	a0001c0003 a0001c0005 a0002c0006 others(7): Show a0001c0003 a0001c0005 a0002c0006 a0002c0007 a0002c0011 a0003c0001 a0004c0002 a0008c0012 a0009c0019 a0011c0016	a0001c0003t0002 a0001c0005t0001 a0002c0006t0001 others(9): Show a0001c0003t0002 a0001c0005t0001 a0002c0006t0001 a0002c0007t0003 a0002c0011t0001 a0003c0001t0001 a0003c0001t0003 a0004c0002t0001 a0004c0002t0003 a0008c0012t0001 a0009c0019t0002 a0011c0016t0001	a0001c0003t0002g0278 a0001c0005t0001g0185 a0001c0005t0001g0189 others(20): Show a0001c0003t0002g0278 a0001c0005t0001g0185 a0001c0005t0001g0189 a0002c0006t0001g0308 a0002c0007t0003g0044 a0002c0007t0003g0074 a0002c0007t0003g0078 a0002c0011t0001g0041 a0003c0001t0001g0151 a0003c0001t0003g0166 a0004c0002t0001g0013 a0004c0002t0001g0045 a0004c0002t0003g0042 a0004c0002t0003g0051 a0004c0002t0003g0057 a0004c0002t0003g0070 a0004c0002t0003g0075 a0004c0002t0003g0077 a0004c0002t0003g0084 a0004c0002t0003g0090 a0008c0012t0001g0096 a0009c0019t0002g0275 a0011c0016t0001g0131	24	404	0.0594	-35	c.197 others(52): Show c.1977-702_1977-668delTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109363	CCTCCCTC others(28): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19030.hp1 NA18982.hp2 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0020 a0001c0005 a0001c0020	a0001c0005t0001 a0001c0020t0002 a0001c0005t0001 a0001c0020t0002	a0001c0005t0001g0184 a0001c0020t0002g0257 a0001c0005t0001g0184 a0001c0020t0002g0257	2	404	0.0050	-35	c.197 others(52): Show c.1977-666_1977-632delTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109399	CCTCCCTC others(28): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02723.hp1 NA18962.hp1 others(1): Show HG01361.hp1 HG02723.hp1 NA18962.hp1 NA19057.hp2	a0002 a0004 a0002 a0004	a0002c0006 a0004c0002 a0004c0030 a0002c0006 a0004c0002 a0004c0030	a0002c0006t0002 a0004c0002t0001 a0004c0002t0003 others(1): Show a0002c0006t0002 a0004c0002t0001 a0004c0002t0003 a0004c0030t0001	a0002c0006t0002g0255 a0004c0002t0001g0045 a0004c0002t0003g0057 others(1): Show a0002c0006t0002g0255 a0004c0002t0001g0045 a0004c0002t0003g0057 a0004c0030t0001g0065	4	404	0.0099	-35	c.197 others(52): Show c.1977-630_1977-596delTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109435	CCTCCCTC others(28): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0003 a0004c0002t0003	a0004c0002t0003g0054 a0004c0002t0003g0054	1	404	0.0025	-35	c.197 others(52): Show c.1977-594_1977-560delTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109471	CCTCCCTC others(28): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0055 a0002c0007t0001g0055	1	404	0.0025	-35	c.197 others(52): Show c.1977-558_1977-524delTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109580	CCTCCCTC others(28): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01361.hp2 HG03491.hp2 others(4): Show HG00408.hp1 HG01361.hp2 HG03491.hp2 NA19007.hp1 NA19064.hp2 NA19068.hp2 NA20805.hp1	a0002 a0004 a0002 a0004	a0002c0006 a0002c0007 a0002c0011 others(1): Show a0002c0006 a0002c0007 a0002c0011 a0004c0002	a0002c0006t0001 a0002c0007t0003 a0002c0011t0003 others(2): Show a0002c0006t0001 a0002c0007t0003 a0002c0011t0003 a0004c0002t0001 a0004c0002t0003	a0002c0006t0001g0308 a0002c0007t0003g0080 a0002c0011t0003g0072 others(4): Show a0002c0006t0001g0308 a0002c0007t0003g0080 a0002c0011t0003g0072 a0004c0002t0001g0098 a0004c0002t0003g0040 a0004c0002t0003g0061 a0004c0002t0003g0069	7	404	0.0173	-35	c.197 others(52): Show c.1977-449_1977-415delTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109616	CCTCCCTC others(28): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19057.hp2 NA19030.hp1 NA19057.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0004c0030 a0001c0005 a0004c0030	a0001c0005t0001 a0004c0030t0001 a0001c0005t0001 a0004c0030t0001	a0001c0005t0001g0184 a0004c0030t0001g0065 a0001c0005t0001g0184 a0004c0030t0001g0065	2	404	0.0050	-35	c.197 others(52): Show c.1977-413_1977-379delTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC4_chr7_133248078_134070761	133558189	CTCTTTTC others(28): Show CTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	102	0.0098	-35	c.141 others(56): Show c.1418-71823_1418-71789delTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTC	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOSC1_chr10_97430909_97451006	97450507	CCCTCCCT others(28): Show CCCTCCCTGGCTGCCTCAGGGCAAAATCAGGTAATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	430	0.0023	-35	c.-45 others(46): Show c.-4557_-4523delAATTACCTGATTTTGCCCTGAGGCAGCCAGGGAG G	EXOSC1	ENSG00000171311.13	transcript	ENST00000370902.8	protein_coding		4502		chr10	TogoVar
EXOSC5_chr19_41381374_41402359	41383707	CTCTACAG others(28): Show CTCTACAGACCAACAAGGCTTGGGCCAAGGGGGACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	396	0.0025	-35	c.28 others(46): Show c.2891_*2925delTGTCCCCCTTGGCCCAAGCCTTGTTGGTCTGTAG A	EXOSC5	ENSG00000077348.10	transcript	ENST00000221233.9	protein_coding		2666		chr19	TogoVar
FABP6_chr5_160224506_160243716	160229821	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp1 others(80): Show HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00673.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01358.hp2 HG01515.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02083.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03239.hp2 HG03453.hp1 HG03654.hp1 HG03834.hp1 HG04228.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18964.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19060.hp2 NA19067.hp1 NA19070.hp1 NA19072.hp2 NA19081.hp2 NA19088.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0002c0002t0001g0232	83	476	0.1744	-35	c.67+ others(48): Show c.67+232_67+266delATTTTATTTTATTTTATTTTATTTTATTTTAT TTT	FABP6	ENSG00000170231.16	transcript	ENST00000402432.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF1_chr1_50432028_50965267	50917624	AAAAGGAA others(28): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG04115.hp2 HG06807.hp2 HG02717.hp2 HG04115.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0020 a0001c0001t0001 a0001c0001t0010 a0001c0001t0020	a0001c0001t0001g0058 a0001c0001t0010g0183 a0001c0001t0020g0181 a0001c0001t0001g0058 a0001c0001t0010g0183 a0001c0001t0020g0181	3	190	0.0158	-35	c.45+ others(52): Show c.45+42108_45+42142delCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAF2_chr5_176443385_176515074	176451868	ATACACAC others(28): Show ATACACACATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp1 NA18946.hp1 others(3): Show HG03486.hp1 NA18906.hp1 NA18946.hp1 NA18982.hp1 NA19000.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0253 others(3): Show a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0006g0248 a0001c0001t0006g0283	6	372	0.0161	-35	c.63+ others(50): Show c.63+3400_63+3434delACACACATATATATATATATATATTTTTTT TTTTT	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451870	ACACACAT others(28): Show ACACACATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18975.hp2 NA19086.hp2 HG01496.hp2 NA18975.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0006g0243 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0006g0243	3	372	0.0081	-35	c.63+ others(50): Show c.63+3401_63+3435delCACACATATATATATATATATATTTTTTTT TTTTT	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10			chr5	TogoVar

Search by Variant

Search

Search Results (Total: 2085 hits)