Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP74_chr1_1916957_2008786	1970906	TACATGCA others(52): Show TACATGCACACGTGCACACACGTGCACACACACATGCACACCTGCACATG CACACATCAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20129.hp1 HG01243.hp2 NA20129.hp1	a0002 a0033 a0002 a0033	a0002c0076 a0033c0100 a0002c0076 a0033c0100	a0002c0076t0002 a0033c0100t0002 a0002c0076t0002 a0033c0100t0002	a0002c0076t0002g0069 a0033c0100t0002g0028 a0002c0076t0002g0069 a0033c0100t0002g0028	2	278	0.0072	-59	c.889 others(73): Show c.889-149_889-91delGTGATGTGTGCATGTGCAGGTGTGCATGTGT GTGTGCACGTGTGTGCACGTGTGCATGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	9/38			chr1	TogoVar
CHM_chrX_85856180_86052558	85922021	TGTGGTAT others(52): Show TGTGGTATTTACACACATATGCATGAACTATAAATGCAGTTTTTACACAG GATGGTCTTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0233	1	245	0.0041	-59	c.116 others(80): Show c.1167-10742_1167-10684delTAAGACCATCCTGTGTAAAAACTG CATTTATAGTTCATGCATATGTGTGTAAATACCAC	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHST8_chr19_33616953_33778506	33751022	TAATAATG others(52): Show TAATAATGAATCCCATTTCCTCTTGGAGTTGGTTTTCTTGCAACAGATGC TGTTGCAGAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	254	0.0039	-59	c.131 others(78): Show c.131-20387_131-20329delAATGAATCCCATTTCCTCTTGGAGTT GGTTTTCTTGCAACAGATGCTGTTGCAGAAAAT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLPX_chr15_65143219_65190342	65145935	AAAAAATA others(52): Show AAAAAATATATAAATATATATATAAAATATATATATAAATATATATATAA ATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0062 a0001c0001t0027g0062	1	190	0.0053	-59	c.48 others(70): Show c.4829_*4887delATATATATATTTATATATATATTTATATATATAT TTTATATATATATTTATATATTTTT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2283		chr15	TogoVar
CLUL1_chr18_591988_655182	626896	AAAGAAAG others(52): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAAGAA GGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0312 a0001c0001t0004g0312	1	414	0.0024	-59	c.424 others(74): Show c.424-197_424-139delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA GGAAAGAAGGAAAGAAGGAAGGAAGGAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	626950	GGAAGGAA others(52): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG03831.hp1 HG01256.hp2 HG01258.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0191 a0001c0001t0001g0003 a0001c0001t0001g0191	3	414	0.0073	-59	c.424 others(73): Show c.424-146_424-88delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CLUL1_chr18_591988_655182	647171	CAAATACG others(52): Show CAAATACGGCAAGAAAGAGTAGAGCATCTAGGTACTGAGGGTGCTGGGAA GTCCTGCTAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01074.hp2 HG01168.hp2 others(11): Show HG00438.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp2 HG02523.hp1 NA18906.hp2 NA18957.hp1 NA18961.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18985.hp2 NA19076.hp1 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0006c0009t0002 a0001c0001t0001 a0001c0001t0002 a0006c0009t0002	a0001c0001t0001g0005 a0001c0001t0001g0072 a0001c0001t0001g0143 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0072 a0001c0001t0001g0143 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0209 a0001c0001t0001g0252 a0001c0001t0001g0361 a0001c0001t0001g0382 a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0202 a0006c0009t0002g0015	14	414	0.0338	-59	c.139 others(78): Show c.1397+2135_1397+2193delAATACGGCAAGAAAGAGTAGAGCATC TAGGTACTGAGGGTGCTGGGAAGTCCTGCTAAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNTNAP4_chr16_76272401_76565757	76522686	CCTTTCTT others(52): Show CCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02145.hp1 HG02258.hp1 others(7): Show HG01081.hp2 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03579.hp2	a0001 a0003 a0021 a0001 a0003 a0021	a0001c0004 a0003c0003 a0003c0006 others(1): Show a0001c0004 a0003c0003 a0003c0006 a0021c0037	a0001c0004t0006 a0003c0003t0006 a0003c0003t0011 others(2): Show a0001c0004t0006 a0003c0003t0006 a0003c0003t0011 a0003c0006t0006 a0021c0037t0006	a0001c0004t0006g0225 a0003c0003t0006g0045 a0003c0003t0006g0264 others(7): Show a0001c0004t0006g0225 a0003c0003t0006g0045 a0003c0003t0006g0264 a0003c0003t0006g0268 a0003c0003t0011g0243 a0003c0003t0011g0244 a0003c0003t0011g0246 a0003c0006t0006g0063 a0003c0006t0006g0205 a0021c0037t0006g0171	10	274	0.0365	-59	c.275 others(76): Show c.2755+434_2755+492delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTRL_chr9_121069955_121182610	121092571	CTATATAT others(52): Show CTATATATATAATATATATCTATATATATAATATATATCTATATATATTA TATATATCTA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0167 a0010c0014t0001g0167	1	330	0.0030	-59	c.348 others(76): Show c.348+2175_348+2233delTAATATATATCTATATATATAATATATA TCTATATATATTATATATATCTATATATATA	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL18A1_chr21_45400165_45518720	45418682	AAGCGGCA others(52): Show AAGCGGCACCTCCTCAGGGGCCTCCCAGCCACCTCACGTCACTTCCTGGG GTCTCAGGGC	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0068 a0003c0010t0002g0068	1	292	0.0034	-59	c.106 others(78): Show c.106+13234_106+13292delCAGCCACCTCACGTCACTTCCTGGGG TCTCAGGGCAGCGGCACCTCCTCAGGGGCCTCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL25A1_chr4_108803725_109307658	109221101	ATAATATG others(52): Show ATAATATGCATAAGATATTAAGTACTAAATTATATGTGATGAGTAATTGA TAAAATTACT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01884.hp2 HG01891.hp1 others(19): Show HG00140.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp2 NA18952.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0001c0002t0021 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002	a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0074 others(19): Show a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0099 a0001c0001t0002g0071 a0001c0001t0002g0091 a0001c0001t0002g0100 a0001c0001t0002g0109 a0001c0001t0011g0044 a0001c0001t0011g0047 a0001c0002t0001g0098 a0001c0002t0001g0110 a0001c0002t0005g0042 a0001c0002t0005g0112 a0001c0002t0013g0067 a0001c0002t0013g0070 a0001c0002t0021g0082 a0001c0004t0001g0043 a0001c0004t0002g0083 a0001c0005t0002g0123 a0001c0005t0002g0124	22	130	0.1692	-59	c.367 others(78): Show c.367+79423_367+79481delAGTAATTTTATCAATTACTCATCACA TATAATTTAGTACTTAATATCTTATGCATATTA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(52): Show TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTCTT TCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19081.hp1 HG02280.hp2 NA19081.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0001 a0002c0006t0004 a0002c0003t0001 a0002c0006t0004	a0002c0003t0001g0090 a0002c0006t0004g0042 a0002c0003t0001g0090 a0002c0006t0004g0042	2	174	0.0115	-59	c.385 others(78): Show c.385+41926_385+41984delCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTTGTCTCTCTTTCTTTCTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489713	CATTCTTT others(52): Show CATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTCTTTC TTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0169 a0001c0001t0008g0169	1	174	0.0058	-59	c.385 others(78): Show c.385+41927_385+41985delATTCTTTCTTTCTCTCTCTCTTTCTC TCTTTCTTTCTTGTCTCTCTTTCTTTCTTTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
COL6A2_chr21_46093112_46134801	46124178	ATGGGTGG others(52): Show ATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATG GATGGGTGAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 NA18941.hp2 others(4): Show HG00423.hp2 HG00597.hp1 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2 NA19068.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0007 a0003c0007t0001 a0003c0007t0007	a0003c0007t0001g0204 a0003c0007t0007g0042 a0003c0007t0007g0048 others(4): Show a0003c0007t0001g0204 a0003c0007t0007g0042 a0003c0007t0007g0048 a0003c0007t0007g0195 a0003c0007t0007g0197 a0003c0007t0007g0205 a0003c0007t0007g0206	7	372	0.0188	-59	c.167 others(76): Show c.1672-462_1672-404delAATGGATGGGTTAGTGGGTGGCTGGGTG GATGGATGATGGATGGGTGACTGGGTGGATG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46124178	ATGGGTGG others(52): Show ATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATG GATGGGTGAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 NA18941.hp2 others(4): Show HG00423.hp2 HG00597.hp1 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2 NA19068.hp2	a0003 a0003	a0003c0008 a0003c0016 a0003c0008 a0003c0016	a0003c0008t0003 a0003c0016t0001 a0003c0008t0003 a0003c0016t0001	a0003c0008t0003g0044 a0003c0008t0003g0050 a0003c0008t0003g0191 others(4): Show a0003c0008t0003g0044 a0003c0008t0003g0050 a0003c0008t0003g0191 a0003c0008t0003g0193 a0003c0008t0003g0201 a0003c0008t0003g0202 a0003c0016t0001g0200	7	364	0.0192	-59	c.167 others(76): Show c.1672-462_1672-404delAATGGATGGGTTAGTGGGTGGCTGGGTG GATGGATGATGGATGGGTGACTGGGTGGATG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL9A3_chr20_62812050_62846159	62813362	GGCCCCAG others(52): Show GGCCCCAGCCCGGCAGGACCTACAAGGGATGAGCCAGCCGAGAGCCCATC GGAGACCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0356 a0008c0019t0001g0356	1	412	0.0024	-59	c.-37 others(70): Show c.-3702_-3644delGCCCCAGCCCGGCAGGACCTACAAGGGATGAGCC AGCCGAGAGCCCATCGGAGACCCCA	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		3687		chr20	TogoVar
CSMD1_chr8_2930361_4999914	4920887	AAAAGAAA others(52): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAA AGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01255.hp1 others(8): Show HG00423.hp2 HG00438.hp2 HG01255.hp1 HG03209.hp1 HG03834.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA19060.hp1 NA19090.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0005 a0001c0007 a0001c0020 others(8): Show a0001c0005 a0001c0007 a0001c0020 a0001c0045 a0001c0059 a0001c0081 a0001c0102 a0001c0105 a0002c0031 a0002c0089 a0004c0087	a0001c0005t0002 a0001c0007t0001 a0001c0020t0016 others(8): Show a0001c0005t0002 a0001c0007t0001 a0001c0020t0016 a0001c0045t0012 a0001c0059t0001 a0001c0081t0037 a0001c0102t0005 a0001c0105t0001 a0002c0031t0015 a0002c0089t0001 a0004c0087t0001	a0001c0005t0002g0111 a0001c0007t0001g0035 a0001c0020t0016g0065 others(8): Show a0001c0005t0002g0111 a0001c0007t0001g0035 a0001c0020t0016g0065 a0001c0045t0012g0010 a0001c0059t0001g0036 a0001c0081t0037g0030 a0001c0102t0005g0034 a0001c0105t0001g0029 a0002c0031t0015g0001 a0002c0089t0001g0037 a0004c0087t0001g0022	11	126	0.0873	-59	c.85+ others(76): Show c.85+73386_85+73444delCTTTCTTTCTTTCTCTCTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542631	TATATATA others(52): Show TATATATATGTATATATATATATATATATATATATATATATGTATATATA TATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	390	0.0026	-59	c.230 others(76): Show c.230+7385_230+7443delTATATATATATATATATACATATATATA TATATATATATATATATATATACATATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G2_chr19_1936172_1986338	1967672	GCTCCTCC others(52): Show GCTCCTCCCTCCTCCCCAGGCTGCCCCCACCACCCTTCAGTTCTGCAGGT GGGGCTCCTC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA20300.hp1 HG02004.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0283 a0001c0001t0008g0284 a0001c0001t0008g0283 a0001c0001t0008g0284	2	382	0.0052	-59	c.-26 others(78): Show c.-265-1833_-265-1775delCCTCCCTCCTCCCCAGGCTGCCCCCA CCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCT	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAPK1_chr9_87492867_87713634	87609003	AATCAGTA others(52): Show AATCAGTAGACTGAATAAAGCAGAACACATTCGGGAATGTGGGTGGCTCC GTCAATCTGC	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp2 NA19011.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0203 a0001c0009t0001g0207 a0001c0001t0001g0203 a0001c0009t0001g0207	2	236	0.0085	-59	c.284 others(76): Show c.284+3829_284+3887delATCAGTAGACTGAATAAAGCAGAACACA TTCGGGAATGTGGGTGGCTCCGTCAATCTGC	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	3/25			chr9	TogoVar
DAP_chr5_10674230_10766234	10681321	TAGGAAGC others(52): Show TAGGAAGCATGGGGTTTGTATGTGAGGAAGCCCCAGGCCAGGGCCCACCA GCGCCCCTGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0193 a0001c0001t0010g0193	1	372	0.0027	-59	c.196 others(74): Show c.196-211_196-153delGCAGGGGCGCTGGTGGGCCCTGGCCTGGGG CTTCCTCACATACAAACCCCATGCTTCCT	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	3/3			chr5	TogoVar
DAP_chr5_10674230_10766234	10682010	GCAGCCAC others(52): Show GCAGCCACCAGCATCCCTGTAGGAAGCATGGTGTTTGTGGGTGAGGAAGC CCCAGGCCAA	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19009.hp2 NA19074.hp1 others(1): Show NA18964.hp1 NA19009.hp2 NA19074.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0189 a0001c0001t0002g0190 others(1): Show a0001c0001t0002g0044 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191	4	372	0.0108	-59	c.196 others(74): Show c.196-900_196-842delTTGGCCTGGGGCTTCCTCACCCACAAACAC CATGCTTCCTACAGGGATGCTGGTGGCTG	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	3/3			chr5	TogoVar
DCLK2_chr4_150073445_150262438	150195142	ATATATAT others(52): Show ATATATATTATATATAATATTATATATTATATACAATATTATATATTATA TAAACAATAT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0086 a0001c0001t0010g0086	1	116	0.0086	-59	c.859 others(76): Show c.859+1916_859+1974delTAATATTATATATTATATACAATATTAT ATATTATATAAACAATATTATATATTATATA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DIP2B_chr12_50499985_50753657	50579631	AAAAAAAA others(52): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT ATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0191 a0001c0002t0004g0191	1	284	0.0035	-59	c.101 others(78): Show c.101-46343_101-46285delAAAAAAAAAAAAATATATATATATAT ATATATATATATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	436724	ATCTCTCT others(52): Show ATCTCTCTGAGCTCTGCTTCCTGGACATGGTAGGGTGATATGCTCCGCCC ACACCTGAGC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG02280.hp1 others(16): Show HG01081.hp2 HG01099.hp2 HG02280.hp1 HG02602.hp1 HG02647.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18970.hp2 NA19007.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0020 a0001c0021 a0001c0022	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(9): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0007t0002 a0001c0010t0002 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0061 others(16): Show a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0061 a0001c0002t0001g0080 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0082 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0001g0086 a0001c0004t0003g0078 a0001c0005t0001g0009 a0001c0005t0002g0010 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0010t0002g0001 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002	19	88	0.2159	-59	c.394 others(76): Show c.394+4088_394+4146delGCTCAGGTGTGGGCGGAGCATATCACCC TACCATGTCCAGGAAGCAGAGCTCAGAGAGA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1014922	GTGTGAGA others(52): Show GTGTGAGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAG ACGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02258.hp1 HG02071.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0005 a0002c0004t0026 a0002c0001t0005 a0002c0004t0026	a0002c0001t0005g0028 a0002c0004t0026g0016 a0002c0001t0005g0028 a0002c0004t0026g0016	2	40	0.0500	-59	c.73+ others(78): Show c.73+106961_73+107019delAGACCAGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGCCTCCACTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF5_chr7_721699_791475	768060	CGGGCGGA others(52): Show CGGGCGGAAGTGTCCGTGCAGCGAGCGGGAGCTCGCGCTGGGAGCGGAGA CAGGTGATCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02132.hp1 NA18612.hp1 others(24): Show HG00621.hp1 HG02132.hp1 NA18612.hp1 NA18939.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp1 NA18989.hp1 NA18997.hp1 NA18999.hp2 NA19005.hp1 NA19006.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19064.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0019 a0006c0028 a0001c0001 a0001c0019 a0006c0028	a0001c0001t0004 a0001c0019t0004 a0006c0028t0004 a0001c0001t0004 a0001c0019t0004 a0006c0028t0004	a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0106 others(22): Show a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0237 a0001c0019t0004g0173 a0006c0028t0004g0172	27	378	0.0714	-59	c.178 others(78): Show c.1784-2396_1784-2338delGTGCAGCGAGCGGGAGCTCGCGCTGG GAGCGGAGACAGGTGATCTGGGCGGAAGTGTCC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF5_chr7_721699_791475	768352	TGGCGGAA others(52): Show TGGCGGAAGTGTCTGTGCTGTGAGCCGCAGCTCACACTGGGAGGGAAGAC ACGTGGTCCG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01891.hp1 others(5): Show HG00639.hp1 HG01099.hp2 HG01891.hp1 HG02145.hp1 HG02622.hp2 HG03041.hp2 HG03471.hp2 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0007 a0003c0003t0004 a0003c0003t0007	a0003c0003t0004g0109 a0003c0003t0007g0101 a0003c0003t0007g0102 others(5): Show a0003c0003t0004g0109 a0003c0003t0007g0101 a0003c0003t0007g0102 a0003c0003t0007g0118 a0003c0003t0007g0160 a0003c0003t0007g0161 a0003c0003t0007g0231 a0003c0003t0007g0232	8	378	0.0212	-59	c.178 others(78): Show c.1784-2099_1784-2041delTGAGCCGCAGCTCACACTGGGAGGGA AGACACGTGGTCCGGGCGGAAGTGTCTGTGCTG	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOCK3_chr3_50669927_51389198	51304337	CATAGTGA others(52): Show CATAGTGATGCCTGCTGCCCCTCTCCTGGGAAGCTCATTAGTCTTAGGCA GCAGGCAGCT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	212	0.0047	-59	c.292 others(78): Show c.2923-5885_2923-5827delCCTGCTGCCCCTCTCCTGGGAAGCTC ATTAGTCTTAGGCAGCAGGCAGCTATAGTGATG	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	27/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOK5_chr20_54470593_54656169	54481072	TATCTATC others(52): Show TATCTATCTATCATCTACCATCTATCTATCTATCATCTATCTATCTATCA TGTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0116 a0001c0001t0014g0116	1	130	0.0077	-59	c.66+ others(74): Show c.66+5072_66+5130delATCTACCATCTATCTATCTATCATCTATCT ATCTATCATGTATCTATCATCTATCTATC	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK6_chr18_69395888_69854087	69617532	GAAAGAAA others(52): Show GAAAGAAAAGAAAGGAAAAGACTGAGTGATAGGAGAAAAAGAAAGAAAGA GAGAGAGACA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp2 HG02451.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0088 a0001c0001t0075 a0001c0001t0088	a0001c0001t0075g0011 a0001c0001t0088g0033 a0001c0001t0075g0011 a0001c0001t0088g0033	2	170	0.0118	-59	c.289 others(78): Show c.289+18035_289+18093delAAAGAAAAGAAAGGAAAAGACTGAGT GATAGGAGAAAAAGAAAGAAAGAGAGAGAGACA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	3/7			chr18	TogoVar
DPEP1_chr16_89608642_89643433	89618973	CCCCCCGC others(52): Show CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTG CAGCTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	250	0.0040	-59	c.-10 others(78): Show c.-107+5260_-107+5318delGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP10_chr2_114437641_115850780	115635146	GGCAGCCA others(52): Show GGCAGCCACAGTGATGGCTGCCGCCCTTCCCCTTGAAAGCTCAGCCATCT TAGGCAGCAT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	56	0.0179	-59	c.442 others(78): Show c.442-54525_442-54467delGCTGCCGCCCTTCCCCTTGAAAGCTC AGCCATCTTAGGCAGCATGCAGCCACAGTGATG	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115687590	TTTAACTT others(52): Show TTTAACTTCTTTATTGCAGTCTTCACCTCAACACACTTACTGCAAGAGAC AATATTGTTA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0052 a0005c0007t0011g0052	1	56	0.0179	-59	c.442 others(76): Show c.442-2095_442-2037delTAACTTCTTTATTGCAGTCTTCACCTCA ACACACTTACTGCAAGAGACAATATTGTTAT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
EDN3_chr20_59295611_59330992	59317981	CTGCCTCT others(52): Show CTGCCTCTGACGCCACTCTGGCCATGCCTCCCACCCCACTGTAAGAGTCT GGGACTCAAA	C C	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	398	0.0025	-59	c.366 others(76): Show c.366-3035_366-2977delTGCCTCTGACGCCACTCTGGCCATGCCT CCCACCCCACTGTAAGAGTCTGGGACTCAAA	EDN3	ENSG00000124205.18	transcript	ENST00000337938.7	protein_coding	2/4			chr20	TogoVar
EFCAB5_chr17_29936634_30113452	30102087	CATGGGTG others(52): Show CATGGGTGCAGATGAGAGTGAGTGGGTAGGTGTGCTGGTAGAAGTCTACG GAAGGAGAAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	248	0.0040	-59	c.432 others(78): Show c.4322-5708_4322-5650delAGAAGTCTACGGAAGGAGAATATGGG TGCAGATGAGAGTGAGTGGGTAGGTGTGCTGGT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EIF3B_chr7_2349827_2385745	2378258	GGGATGCT others(52): Show GGGATGCTGTGTTGTGTGAATGACCCTCGGTGTCATGGAGGAAGGAACAG GCGAGCGTTC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0172 a0001c0003t0001g0172	1	384	0.0026	-59	c.215 others(76): Show c.2155-430_2155-372delGGATGCTGTGTTGTGTGAATGACCCTCG GTGTCATGGAGGAAGGAACAGGCGAGCGTTC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
ENOSF1_chr18_665318_717630	667257	TGATGGAG others(52): Show TGATGGAGATGGTGATGGTGATGGGATGGTGATGGAGATGGTGATGGTGA TGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0340 a0001c0003t0001g0340	1	418	0.0024	-59	c.69 others(70): Show c.6989_*7047delTCCATCACCATCACCATCACCATCTCCATCACCA TCCCATCACCATCACCATCTCCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3060		chr18	TogoVar
EP400_chr12_131944942_132085460	132064038	CACAGCCA others(52): Show CACAGCCACACAGGTGCCTTGTCACCTGCCCCGGTTCAACCACTGATGAC CCCCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03195.hp1 HG04204.hp2 others(1): Show HG01175.hp2 HG03195.hp1 HG04204.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0039 a0003c0016 a0001c0002 a0001c0039 a0003c0016	a0001c0002t0001 a0001c0039t0001 a0003c0016t0001 a0001c0002t0001 a0001c0039t0001 a0003c0016t0001	a0001c0002t0001g0093 a0001c0039t0001g0084 a0003c0016t0001g0101 others(1): Show a0001c0002t0001g0093 a0001c0039t0001g0084 a0003c0016t0001g0101 a0003c0016t0001g0181	4	208	0.0192	-59	c.833 others(76): Show c.8335-584_8335-526delTGACCCCCCGGCCTACAGCCACACAGGT GCCTTGTCACCTGCCCCGGTTCAACCACTGA	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	47/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERBIN_chr5_65921575_66087546	66018468	ATATATTA others(52): Show ATATATTATATATTATATATTATATTATATAATATATATTATATATTATA TAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG03225.hp2 others(2): Show HG01109.hp2 HG01243.hp2 HG03225.hp2 HG03540.hp2 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0007	a0005c0006t0007g0221 a0005c0006t0007g0222 a0005c0006t0007g0224 others(2): Show a0005c0006t0007g0221 a0005c0006t0007g0222 a0005c0006t0007g0224 a0005c0006t0007g0226 a0005c0006t0007g0230	5	306	0.0163	-59	c.534 others(76): Show c.534-2842_534-2784delTTATATATTATATTATATAATATATATT ATATATTATATAATATATATTATATTATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1089161	GTTGTTGA others(52): Show GTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATT ATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp1 HG02451.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0066 a0002c0002t0131 a0002c0002t0066 a0002c0002t0131	a0002c0002t0066g0139 a0002c0002t0131g0065 a0002c0002t0066g0139 a0002c0002t0131g0065	2	162	0.0124	-59	c.108 others(78): Show c.1086+5588_1086+5646delAAAGTGCTGAGATTACAGGCAATATG CCTATGCCTGGCCCATTATTATTATTATTGTTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089356	GTTGTTGA others(52): Show GTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATT ATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01358.hp2 HG02055.hp1 others(5): Show HG00639.hp2 HG01358.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02647.hp1 NA19240.hp2 NA20129.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0010 a0002c0002 a0005c0010	a0002c0002t0006 a0002c0002t0078 a0002c0002t0079 others(4): Show a0002c0002t0006 a0002c0002t0078 a0002c0002t0079 a0002c0002t0116 a0002c0002t0129 a0002c0002t0139 a0005c0010t0082	a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0078g0128 others(5): Show a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0116g0107 a0002c0002t0129g0106 a0002c0002t0139g0096 a0005c0010t0082g0126	8	162	0.0494	-59	c.108 others(78): Show c.1086+5783_1086+5841delAAAGTGCTGAGATTACAGGCAATATG CCTATGCCTGGCCCATTATTATTATTATTGTTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55720133	CTTCTTCT others(52): Show CTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01169.hp2 others(6): Show HG01069.hp1 HG01071.hp1 HG01169.hp2 HG02145.hp1 HG02486.hp2 HG03225.hp2 HG03834.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0004	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0048 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0002g0040 a0001c0001t0002g0055 a0001c0001t0004g0020 a0001c0002t0004g0001	9	74	0.1216	-59	c.271 others(80): Show c.2712+14579_2712+14637delAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55720182	TTCTTCTT others(52): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02486.hp1 HG02738.hp1 others(3): Show HG02040.hp1 HG02486.hp1 HG02738.hp1 HG03225.hp1 HG03834.hp1 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0004c0005t0003	a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0002g0034 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0002g0034 a0001c0001t0002g0057 a0001c0002t0003g0018 a0004c0005t0003g0065	6	74	0.0811	-59	c.271 others(80): Show c.2712+14530_2712+14588delGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERGIC1_chr5_172829251_172957683	172923073	AGGAGGAG others(52): Show AGGAGGAGGAGGAGGAGGAGGGTTCCAGGATCATACCAAGGGTTCTAGTC TGAGCATCTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01243.hp1 others(42): Show HG00140.hp1 HG00280.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02155.hp2 HG02280.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA19030.hp1 NA19074.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0026 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0005t0018	a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0001g0193 others(42): Show a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0002g0138 a0001c0001t0002g0190 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0310 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0006g0003 a0001c0001t0006g0013 a0001c0001t0006g0183 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0007g0307 a0001c0001t0007g0308 a0001c0001t0009g0330 a0001c0001t0010g0018 a0001c0001t0013g0314 a0001c0001t0015g0198 a0001c0001t0016g0196 a0001c0001t0023g0332 a0001c0001t0026g0241 a0001c0001t0032g0084 a0001c0001t0033g0085 a0001c0001t0034g0086 a0001c0005t0018g0160	45	334	0.1347	-59	c.376 others(74): Show c.376-805_376-747delAGGAGGAGGAGGGTTCCAGGATCATACCAA GGGTTCTAGTCTGAGCATCTGGGAGGAGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ETNPPL_chr4_108737053_108768053	108747151	ATATATAT others(52): Show ATATATATATATATTATATATATATATATAATATATATATATATTATATA TATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp1 HG01256.hp2 others(4): Show HG00140.hp2 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG01943.hp2 HG01975.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0138 a0001c0001t0001g0144 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0170 a0001c0001t0001g0177	7	378	0.0185	-59	c.108 others(76): Show c.1083-359_1083-301delATTATATATATATATAATATATATATAT ATTATATATATATATATAATATATATATATA	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12			chr4	TogoVar
EXD3_chr9_137301896_137428162	137355558	AGGAAGGG others(52): Show AGGAAGGGAGGATGGAGGAAGGAGGAAGGAGAAAGGGCGGAAGGAGAAAG GAGGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0027 a0027	a0027c0035 a0027c0035	a0027c0035t0001 a0027c0035t0001	a0027c0035t0001g0040 a0027c0035t0001g0040	1	82	0.0122	-59	c.757 others(74): Show c.757+651_757+709delCTCCTTCCTCCTTTCTCCTTCCGCCCTTTC TCCTTCCTCCTTCCTCCATCCTCCCTTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FAM170B_chr10_49126154_49139021	49127173	TGCGTATA others(52): Show TGCGTATATTGAACCAGCCTAGCATCCCAGGGATGAAGCCCACTTGATCA TGGTGGATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01515.hp1 HG03017.hp1 others(2): Show HG01168.hp1 HG01515.hp1 HG03017.hp1 HG03669.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	390	0.0128	-59	c.43 others(70): Show c.4381_*4439delTTATCCACCATGATCAAGTGGGCTTCATCCCTGG GATGCTAGGCTGGTTCAATATACGC	FAM170B	ENSG00000172538.7	transcript	ENST00000311787.6	protein_coding		3980		chr10	TogoVar
FAM174B_chr15_92612448_92660775	92631375	AATATATT others(52): Show AATATATTATATATTATATATTATATTATATTATATATAATATATAATAT ATAATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG01192.hp2 others(2): Show HG00733.hp1 HG01175.hp2 HG01192.hp2 HG01975.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0033	a0001c0001t0001g0346 a0001c0001t0004g0347 a0001c0001t0010g0349 others(2): Show a0001c0001t0001g0346 a0001c0001t0004g0347 a0001c0001t0010g0349 a0001c0001t0012g0350 a0001c0001t0033g0342	5	394	0.0127	-59	c.345 others(76): Show c.345-1089_345-1031delATTATATTATATATTATATATTATATAT AATATAATATAATATATAATATATAATATAT	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49489803	TTATATAT others(52): Show TTATATATATATATATATTTTATATATATATATATATTTTATATATATAT ATATATTTTA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02145.hp2 HG02886.hp2 others(5): Show HG01169.hp2 HG02145.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp2 NA18906.hp2 NA18966.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0007 a0002c0003t0002	a0001c0001t0002g0036 a0001c0001t0002g0148 a0001c0001t0003g0179 others(5): Show a0001c0001t0002g0036 a0001c0001t0002g0148 a0001c0001t0003g0179 a0001c0001t0005g0105 a0001c0002t0007g0284 a0001c0002t0007g0287 a0002c0003t0002g0101 a0002c0003t0002g0115	8	294	0.0272	-59	c.101 others(80): Show c.1012+18349_1012+18407delTAAAATATATATATATATATAAAA TATATATATATATATAAAATATATATATATATATA	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar

Search by Variant

Search

Search Results