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
EPHA6_chr3_96809594_97766532	97324395	G G	GCTTTCCT others(18): Show GCTTTCCTTCTTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0034 a0001c0002t0007g0034	1	82	0.0122	25	c.160 others(46): Show c.1606+80114_1606+80138dupCTTCTTTTCTTTCTTTCTTTCTTT C	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA7_chr6_93235020_93424559	93311114	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0172 a0001c0002t0002g0172	1	280	0.0036	25	c.132 others(46): Show c.1325-38717_1325-38693dupAAAAAAAAAAAAAAAAAAAAAAAA A	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	5/16			chr6	TogoVar
EPHB1_chr3_134790260_135265467	134811242	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	134	0.0075	25	c.58+ others(42): Show c.58+15574_58+15575insTTTTTTTTTTTTTTTTTTTTTTTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134882814	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01167.hp2 others(3): Show HG00323.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG03492.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0016	a0001c0001t0002 a0001c0001t0021 a0001c0004t0005 others(2): Show a0001c0001t0002 a0001c0001t0021 a0001c0004t0005 a0001c0005t0013 a0001c0016t0001	a0001c0001t0002g0050 a0001c0001t0021g0058 a0001c0004t0005g0097 others(3): Show a0001c0001t0002g0050 a0001c0001t0021g0058 a0001c0004t0005g0097 a0001c0005t0013g0129 a0001c0005t0013g0130 a0001c0016t0001g0071	6	134	0.0448	25	c.59- others(42): Show c.59-42991_59-42990insCTTTCTTTCTTTCTTTTCTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB4_chr7_100797565_100832523	100800979	T T	TAGCTGGA others(18): Show TAGCTGGAAGAGCATTCATGGTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	364	0.0028	25	c.24 others(36): Show c.2481_*2482insCCCCACCATGAATGCTCTTCCAGCT	EPHB4	ENSG00000196411.10	transcript	ENST00000358173.8	protein_coding		1585		chr7	TogoVar
EPHX2_chr8_27486143_27550564	27487357	A A	ACTCTTCT others(18): Show ACTCTTCTCTTCTCTTCTCTTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	374	0.0027	25	c.-38 others(36): Show c.-3852_-3851insCTCTTCTCTTCTCTTCTCTTCTCTT	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding		3785		chr8	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	282	0.0036	25	c.766 others(42): Show c.766+3954_766+3955insTTTTTTTTTTTTTTTTTTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	282	0.0036	25	c.114 others(44): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAAAAAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPS15_chr1_51349263_51524266	51508186	G G	GAGAAAAG others(18): Show GAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0039 a0002c0001t0004g0039	1	152	0.0066	25	c.33+ others(42): Show c.33+10988_33+11012dupTTTCTTTTCTTTTCTTTTCTTTTCT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42951645	A A	AAGACAAG others(18): Show AAGACAAGGAGGTTGGACGCACAGCT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0230 a0001c0002t0025g0230	1	352	0.0028	25	c.563 others(42): Show c.563+2302_563+2303insAGCTGTGCGTCCAACCTCCTTGTCT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42968954	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01981.hp2 HG02630.hp2 others(2): Show HG00558.hp2 HG01981.hp2 HG02630.hp2 HG04199.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 a0001c0002t0025 a0002c0006t0019	a0001c0001t0019g0346 a0001c0002t0001g0044 a0001c0002t0003g0239 others(2): Show a0001c0001t0019g0346 a0001c0002t0001g0044 a0001c0002t0003g0239 a0001c0002t0025g0285 a0002c0006t0019g0200	5	352	0.0142	25	c.331 others(40): Show c.331+139_331+140insGTGTGTGTGTGTGTGTGTGTGTGTG	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
ERBB2_chr17_39695064_39733658	39724272	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19002.hp1 NA18972.hp2 NA19002.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0130 a0003c0003t0001g0119 a0002c0002t0001g0130 a0003c0003t0001g0119	2	318	0.0063	25	c.230 others(42): Show c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTT	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB4_chr2_211370717_212543802	211560262	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	56	0.0179	25	c.248 others(44): Show c.2487+1616_2487+1640dupAAAAAAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211673517	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0022 a0001c0001t0010g0022	1	56	0.0179	25	c.162 others(42): Show c.1623-261_1623-260insTTTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	13/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212191677	T T	TGTGTTAT others(18): Show TGTGTTATACATGTTACACATAACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	56	0.0179	25	c.83- others(42): Show c.83-66775_83-66774insGTGTTATGTGTAACATGTATAACAC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212191677	T T	TGTGTTAT others(18): Show TGTGTTATACATGTTACATATAACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp2 HG03453.hp1 others(2): Show HG02895.hp1 HG02965.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0001t0020	a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0006g0039 others(2): Show a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0006g0039 a0001c0001t0019g0002 a0001c0001t0020g0028	5	56	0.0893	25	c.83- others(42): Show c.83-66799_83-66775dupGTGTTATATGTAACATGTATAACAC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212474822	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	56	0.0179	25	c.82+ others(42): Show c.82+63626_82+63627insAAAAAAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212540894	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	56	0.0179	25	c.-23 others(36): Show c.-2365_-2364insTTTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding		2093		chr2	TogoVar
ERC1_chr12_986223_1500931	1122378	T T	TATCTCTA others(18): Show TATCTCTATCTCTATCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0008 a0001c0001t0093g0008	1	162	0.0062	25	c.156 others(44): Show c.1569+6361_1569+6362insATCTCTATCATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1164231	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG03139.hp2 others(2): Show HG02451.hp1 HG02572.hp1 HG03139.hp2 HG03579.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0089 a0002c0002t0131 others(1): Show a0002c0002t0016 a0002c0002t0089 a0002c0002t0131 a0002c0002t0134	a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0089g0037 others(2): Show a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0089g0037 a0002c0002t0131g0065 a0002c0002t0134g0105	5	162	0.0309	25	c.173 others(46): Show c.1738-16297_1738-16273dupTTTATTTTATTTTATTTTATTTTA T	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1247046	T T	TTGAGCCC others(18): Show TTGAGCCCAGGAGTTTGAGGTTGCAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0001 a0001c0001t0117g0001	1	162	0.0062	25	c.248 others(46): Show c.2487+10244_2487+10268dupGAGCCCAGGAGTTTGAGGTTGCAG T	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1310214	A A	ATTTTGTT others(18): Show ATTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0050 a0001c0001t0124g0050	1	162	0.0062	25	c.278 others(46): Show c.2780+20206_2780+20207insGTTTTGTTTTGTTTTGTTTTGTTT T	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1402614	A A	AACACACA others(18): Show AACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0135 a0002c0002t0135	a0002c0002t0135g0093 a0002c0002t0135g0093	1	162	0.0062	25	c.292 others(44): Show c.2926-5511_2926-5510insCACACACACACACACACACACACAC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1402614	A A	AACACACA others(18): Show AACACACACACACACACACACACCAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02809.hp1 HG02896.hp2 others(1): Show HG01346.hp1 HG02809.hp1 HG02896.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0040 a0002c0002t0075 a0002c0002t0081 others(1): Show a0001c0001t0040 a0002c0002t0075 a0002c0002t0081 a0002c0002t0140	a0001c0001t0040g0150 a0002c0002t0075g0073 a0002c0002t0081g0123 others(1): Show a0001c0001t0040g0150 a0002c0002t0075g0073 a0002c0002t0081g0123 a0002c0002t0140g0108	4	162	0.0247	25	c.292 others(44): Show c.2926-5513_2926-5512insCACACACACACACACACACACACAC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0136 a0002c0002t0053g0136	1	162	0.0062	25	c.33 others(36): Show c.3319_*3320insAAATATATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3320	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0120 a0001c0001t0019g0120	1	162	0.0062	25	c.33 others(36): Show c.3319_*3320insATATATATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3320	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0139 a0002c0002t0139	a0002c0002t0139g0096 a0002c0002t0139g0096	1	162	0.0062	25	c.33 others(36): Show c.3318_*3319insTATATATATATATATATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3319		chr12	TogoVar
ERC2_chr3_55503311_56473467	55647182	C C	CCAGTTCT others(18): Show CCAGTTCTCGTTTCCTGCACTACAAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp2 HG02258.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0021 a0001c0002t0001g0003 a0001c0001t0002g0021 a0001c0002t0001g0003	2	74	0.0270	25	c.39 others(44): Show c.39+36587_*39+36611dupATTGTAGTGCAGGAAACGAGAACTG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56126807	G G	GAAGGAAA others(18): Show GAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01346.hp1 others(2): Show HG00741.hp1 HG01109.hp1 HG01346.hp1 HG02647.hp1 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0013 a0001c0001t0004g0022 a0001c0001t0007g0002 others(2): Show a0001c0001t0001g0013 a0001c0001t0004g0022 a0001c0001t0007g0002 a0002c0003t0001g0039 a0002c0003t0003g0025	5	74	0.0676	25	c.147 others(46): Show c.1473+12677_1473+12701dupTCCTTTCCTTTCCTTTCCTTTCCT T	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	6/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56204476	C C	CTTTTATT others(18): Show CTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02965.hp1 HG03831.hp1 others(1): Show HG02040.hp2 HG02965.hp1 HG03831.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0061 a0001c0001t0002g0032 a0001c0001t0002g0072 others(1): Show a0001c0001t0001g0061 a0001c0001t0002g0032 a0001c0001t0002g0072 a0001c0001t0003g0068	4	74	0.0541	25	c.107 others(46): Show c.1075-30981_1075-30957dupTAAAATAAAATAAAATAAAATAAA A	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERCC2_chr19_45344837_45375573	45375534	A A	ATATTTTA others(18): Show ATATTTTATTTTATTTTATTTTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(178): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18950.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0011 a0013 a0014	a0001c0001 a0001c0002 a0001c0009 others(14): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0020 a0001c0025 a0002c0003 a0002c0005 a0003c0006 a0003c0008 a0004c0004 a0005c0011 a0007c0021 a0010c0022 a0011c0024 a0013c0018 a0014c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0002t0002 a0001c0009t0001 a0001c0010t0001 a0001c0020t0001 a0001c0025t0001 a0002c0003t0003 a0002c0003t0005 a0002c0003t0015 a0002c0003t0019 a0002c0003t0022 a0002c0003t0023 a0002c0005t0003 a0002c0005t0008 a0002c0005t0020 a0003c0006t0001 a0003c0006t0003 a0003c0006t0009 a0003c0008t0003 a0004c0004t0001 a0004c0004t0002 a0005c0011t0001 a0007c0021t0001 a0010c0022t0007 a0011c0024t0001 a0013c0018t0017 a0014c0028t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(128): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0096 a0001c0001t0002g0127 a0001c0001t0002g0141 a0001c0001t0002g0159 a0001c0001t0002g0179 a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0121 a0001c0001t0006g0119 a0001c0001t0007g0033 a0001c0001t0007g0135 a0001c0001t0007g0286 a0001c0001t0011g0126 a0001c0001t0011g0295 a0001c0001t0013g0180 a0001c0001t0013g0181 a0001c0001t0024g0122 a0001c0001t0025g0133 a0001c0001t0026g0143 a0001c0001t0029g0147 a0001c0001t0031g0058 a0001c0002t0002g0048 a0001c0009t0001g0026 a0001c0010t0001g0158 a0001c0010t0001g0162 a0001c0020t0001g0195 a0001c0025t0001g0294 a0002c0003t0003g0003 a0002c0003t0003g0012 a0002c0003t0003g0065 a0002c0003t0003g0067 a0002c0003t0003g0080 a0002c0003t0003g0081 a0002c0003t0003g0089 a0002c0003t0003g0090 a0002c0003t0003g0092 a0002c0003t0003g0093 a0002c0003t0003g0094 a0002c0003t0003g0182 a0002c0003t0003g0183 a0002c0003t0003g0198 a0002c0003t0005g0011 a0002c0003t0005g0082 a0002c0003t0005g0086 a0002c0003t0015g0023 a0002c0003t0019g0095 a0002c0003t0022g0083 a0002c0003t0023g0084 a0002c0005t0003g0006 a0002c0005t0008g0088 a0002c0005t0020g0087 a0003c0006t0001g0137 a0003c0006t0003g0188 a0003c0006t0009g0139 a0003c0008t0003g0128 a0003c0008t0003g0171 a0004c0004t0001g0073 a0004c0004t0001g0091 a0004c0004t0002g0013 a0005c0011t0001g0050 a0007c0021t0001g0160 a0010c0022t0007g0056 a0011c0024t0001g0131 a0013c0018t0017g0068 a0014c0028t0001g0199	181	412	0.4393	25	c.-49 others(36): Show c.-4995_-4994insAAATAAAATAAAATAAAATAAAATA	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		4962		chr19	TogoVar
EREG_chr4_74360145_74393749	74363493	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	358	0.0028	25	c.-18 others(36): Show c.-1816_-1815insTTTTTTTTTTTTTTTTTTTTTTTTT	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding		1651		chr4	TogoVar
ERGIC3_chr20_35537078_35562634	35539472	T T	TTATATAT others(18): Show TTATATATAATATATATAACAGTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02300.hp1 NA19002.hp2 HG01358.hp1 HG02300.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0101 a0001c0001t0001g0151 a0001c0001t0001g0010 a0001c0001t0001g0101 a0001c0001t0001g0151	3	364	0.0082	25	c.-26 others(36): Show c.-2626_-2625insTATATATAATATATATAACAGTTTA	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2605		chr20	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp2 HG02559.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0152 a0001c0001t0001g0155	2	340	0.0059	25	c.212 others(42): Show c.212-3537_212-3536insTATATATATATATATATATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	696704	A A	ATCAGCCT others(18): Show ATCAGCCTGTGCGCGCTCCTCACACC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01891.hp1 others(5): Show HG01069.hp2 HG01071.hp2 HG01891.hp1 HG02451.hp1 HG02970.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0209 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233	8	378	0.0212	25	c.170 others(42): Show c.170-4093_170-4092insGGTGTGAGGAGCGCGCACAGGCTGA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTG others(18): Show GTTTTTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	2	378	0.0053	25	c.169 others(42): Show c.169+7179_169+7180insAAAAAAAAAAAAAAAAAACAAAAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	725162	T T	TCTGCTGT others(18): Show TCTGCTGTCCCCTCCGGCTTCCGTGC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	378	0.0027	25	c.22+ others(40): Show c.22+5953_22+5977dupGCACGGAAGCCGGAGGGGACAGCAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	1/5			chr8	TogoVar
ERICH1_chr8_659200_736224	731383	C C	CGCTGTGG others(18): Show CGCTGTGGAGCATGCGCGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	378	0.0027	25	c.-24 others(34): Show c.-247_-223dupCCTCCCTCCGCGCATGCTCCACAGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		160		chr8	TogoVar
ERICH3_chr1_74563123_74678792	74660592	A A	AGTGTATA others(18): Show AGTGTATATATATATATATATATAGT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	290	0.0035	25	c.24- others(42): Show c.24-11302_24-11278dupACTATATATATATATATATATACAC	ERICH3	ENSG00000178965.14	transcript	ENST00000326665.10	protein_coding	1/14			chr1	TogoVar
ERICH5_chr8_98059568_98098609	98075785	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01081.hp1 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0032 a0001c0001t0003g0033	2	442	0.0045	25	c.58+ others(42): Show c.58+11077_58+11078insTTTTTTTTTTTTTTTTTTTTTTTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45577276	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp1 HG04228.hp2 HG02622.hp1 HG02723.hp1 HG04228.hp2	a0004 a0010 a0019 a0004 a0010 a0019	a0004c0004 a0010c0011 a0019c0023 a0004c0004 a0010c0011 a0019c0023	a0004c0004t0001 a0010c0011t0001 a0019c0023t0001 a0004c0004t0001 a0010c0011t0001 a0019c0023t0001	a0004c0004t0001g0197 a0010c0011t0001g0298 a0019c0023t0001g0230 a0004c0004t0001g0197 a0010c0011t0001g0298 a0019c0023t0001g0230	3	326	0.0092	25	c.962 others(42): Show c.962-2371_962-2347dupAAAAAAAAAAAAAAAAAAAAAAAAA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	7/14			chr13	TogoVar
ERP44_chr9_99974185_100104000	100043291	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19043.hp2 HG02809.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0094 a0001c0001t0004g0108 a0001c0001t0003g0094 a0001c0001t0004g0108	2	220	0.0091	25	c.286 others(42): Show c.286+9125_286+9126insCTTTTTTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	4/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00741.hp2 others(17): Show HG00323.hp1 HG00621.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01243.hp1 HG01934.hp1 HG01952.hp1 HG02027.hp1 HG02293.hp2 HG02486.hp1 HG02976.hp1 HG03017.hp2 HG03225.hp1 HG03239.hp2 HG03492.hp2 HG03540.hp1 NA18971.hp2 NA19000.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0072 a0001c0001t0001g0148 a0001c0001t0001g0164 others(17): Show a0001c0001t0001g0072 a0001c0001t0001g0148 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0005g0201 a0001c0001t0007g0136 a0001c0001t0008g0122 a0001c0001t0014g0120	20	220	0.0909	25	c.58- others(40): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ESF1_chr20_13709325_13789919	13716804	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA19066.hp2 HG03239.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0307 a0002c0003t0001g0141 a0001c0001t0001g0307 a0002c0003t0001g0141	2	390	0.0051	25	c.226 others(42): Show c.2262+539_2262+563dupAAAAAAAAAAAAAAAAAAAAAAAAA	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	13/13			chr20	TogoVar
ESPNL_chr2_238095340_238138287	238118544	A A	AGGAGGAA others(18): Show AGGAGGAATGGATGGAGGAGGGTGGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0022 a0022	a0022c0056 a0022c0056	a0022c0056t0001 a0022c0056t0001	a0022c0056t0001g0042 a0022c0056t0001g0042	1	408	0.0025	25	c.987 others(42): Show c.987+1510_987+1511insGGAGGAATGGATGGAGGAGGGTGGT	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8			chr2	TogoVar
ESPNL_chr2_238095340_238138287	238119562	G G	GTGGGTGG others(18): Show GTGGGTGGAGGAGGGGAGATGGAGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0025 a0025	a0025c0075 a0025c0075	a0025c0075t0011 a0025c0075t0011	a0025c0075t0011g0200 a0025c0075t0011g0200	1	408	0.0025	25	c.987 others(42): Show c.987+2528_987+2529insTGGGTGGAGGAGGGGAGATGGAGGA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8			chr2	TogoVar
ESPNL_chr2_238095340_238138287	238125767	T T	TTGGAGTG others(18): Show TTGGAGTGGAGTGGAGTGGAGTGGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02280.hp1 HG01346.hp2 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0033 a0001c0005 a0001c0033	a0001c0005t0003 a0001c0033t0004 a0001c0005t0003 a0001c0033t0004	a0001c0005t0003g0100 a0001c0033t0004g0316 a0001c0005t0003g0100 a0001c0033t0004g0316	2	408	0.0049	25	c.110 others(42): Show c.1102+403_1102+427dupGTGGAGTGGAGTGGAGTGGAGTGGA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAAGG others(18): Show GGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0026 a0001c0003t0004g0026	1	286	0.0035	25	c.590 others(42): Show c.590-1117_590-1093dupTTTCCTTTCCTTTCCTTTCCTTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAGGG others(18): Show GGGAAGGGAAGGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0257 a0001c0001t0015g0257	1	286	0.0035	25	c.590 others(42): Show c.590-1093_590-1092insTTTCCTTTCCTTTCCCTTCCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569237	G G	GAAAGGAA others(18): Show GAAAGGAAAGGAAAGGAAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	286	0.0035	25	c.590 others(42): Show c.590-1140_590-1139insTCTTTCCTTTCCTTTCCTTTCCTTT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar

Search by Variant

Search

Search Results (Total: 8644 hits)