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
GSTM4_chr1_109651099_109666700	109654178	GAAAGAAA others(43): Show GAAAGAAAGAAAGGAAAGAAAGAAAAGAAAGAAAGAAAGGAAAGAAAGAA A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02293.hp1 HG02451.hp1 others(5): Show HG02148.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02818.hp1 HG02896.hp2 NA18952.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0004 a0001c0001t0002 a0002c0003t0004	a0001c0001t0002g0001 a0001c0001t0002g0005 a0002c0003t0004g0001 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0002c0003t0004g0001 a0002c0003t0004g0003	8	350	0.0229	-50	c.-22 others(61): Show c.-2211_-2162delAAAGAAAGAAAGGAAAGAAAGAAAAGAAAGAAAG AAAGGAAAGAAAGAAA	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		1920		chr1	TogoVar
GTF2I_chr7_74652718_74765692	74761958	CCTGAGTT others(43): Show CCTGAGTTCGAGATTCTCCTGTCTCAGCCACCCCAGTAACTGTGATTATG G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	172	0.0058	-50	c.24 others(61): Show c.2429_*2478delCTGAGTTCGAGATTCTCCTGTCTCAGCCACCCCA GTAACTGTGATTATGG	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding		1267		chr7	TogoVar
GTPBP10_chr7_90341716_90396453	90344160	ATATATGT others(43): Show ATATATGTATATATGTGTATATATGTATATATGTATATATGTGTATATAT G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0015 a0003c0003t0015	a0003c0003t0015g0025 a0003c0003t0015g0025	2	388	0.0052	-50	c.-25 others(61): Show c.-2581_-2532delTATATGTATATATGTGTATATATGTATATATGTA TATATGTGTATATATG	GTPBP10	ENSG00000105793.16	transcript	ENST00000222511.11	protein_coding		2555		chr7	TogoVar
GUCA1B_chr6_42178284_42199956	42192369	AAAAAAAA others(43): Show AAAAAAAAAAAAGAGAGAAAAGAAAAGAAAAGAAAAGAAAAAGGAAAAAA G	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03195.hp1 HG03516.hp1 HG02572.hp2 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0036 a0001c0002t0005g0111 a0001c0002t0005g0036 a0001c0002t0005g0111	3	416	0.0072	-50	c.207 others(67): Show c.207+2195_207+2244delCTTTTTTCCTTTTTCTTTTCTTTTCTTT TCTTTTCTCTCTTTTTTTTTTT	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GYG2_chrX_2823930_2887818	2844668	GTGTATAC others(43): Show GTGTATACGCACACGCATGCGTATATGTGTATACGCACACGCATGCGTAT A	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0106 a0001c0004t0001g0106	1	313	0.0032	-50	c.149 others(67): Show c.149+1318_149+1367delATACGCACACGCATGCGTATATGTGTAT ACGCACACGCATGCGTATATGT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
H1-7_chr12_48323980_48335279	48332636	CGGGGGGC others(43): Show CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	327	0.0031	-50	c.25 others(61): Show c.2578_*2627delGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCG	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2358		chr12	TogoVar
H1-7_chr12_48323980_48335279	48333136	CGGGGGGC others(43): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGC G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01175.hp1 others(2): Show HG00741.hp1 HG00741.hp2 HG01175.hp1 HG01255.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	5	420	0.0119	-50	c.30 others(61): Show c.3078_*3127delGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG CACGGCTGGCCGGGCG	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2858		chr12	TogoVar
H3C13_chr1_149808225_149818693	149817383	ATTCTGCA others(43): Show ATTCTGCAAGAGTTATGACAGAGTCAGAAAGGGGCAAGCATGTTTCTTCT C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	374	0.0027	-50	c.-37 others(61): Show c.-3752_-3703delGAGAAGAAACATGCTTGCCCCTTTCTGACTCTGT CATAACTCTTGCAGAA	H3C13	ENSG00000183598.4	transcript	ENST00000331491.2	protein_coding		3691		chr1	TogoVar
HAVCR2_chr5_157080832_157114044	157100624	CTTAAATG others(43): Show CTTAAATGTCACTGTCACCTTCTGGAAGCCTTAATGTGTATAAAGGGTTT G	C C	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	378	0.0026	-50	c.479 others(67): Show c.479-1773_479-1724delCAAACCCTTTATACACATTAAGGCTTCC AGAAGGTGACAGTGACATTTAA	HAVCR2	ENSG00000135077.10	transcript	ENST00000307851.9	protein_coding	3/6			chr5	TogoVar
HBM_chr16_160978_171764	164900	GCCGGGCC others(43): Show GCCGGGCCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGCGCGGGG C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 NA18970.hp2 HG01515.hp1 HG01517.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	368	0.0082	-50	c.-10 others(61): Show c.-1097_-1048delCCGGGCCGGGGCGGGGTCGCGGGGCGGGGTCGCG GGGCGGGGCGCGGGGC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1077		chr16	TogoVar
HCN1_chr5_45249948_45701380	45372440	TATATAAA others(43): Show TATATAAAAATATATAAAACATTTACATATAAAAATATATAAAACATTTA C	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	196	0.0051	-50	c.123 others(71): Show c.1231-19244_1231-19195delGTAAATGTTTTATATATTTTTATA TGTAAATGTTTTATATATTTTTATAT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HDHD3_chr9_113368422_113381986	113381218	TCTTTTTT others(43): Show TCTTTTTTTTTCATTCTTTCTCTCTGTCTCCCTCCCTCTTTTCTCTCTCT C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA19012.hp1 NA18979.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0004 a0001c0001t0001g0014	2	462	0.0043	-50	c.-48 others(61): Show c.-4830_-4781delGAGAGAGAGAAAAGAGGGAGGGAGACAGAGAGAA AGAATGAAAAAAAAAG	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4233		chr9	TogoVar
HGSNAT_chr8_43135464_43207855	43181104	GGAGAGGG others(43): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG A	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	232	0.0043	-50	c.101 others(68): Show c.1013-1037_1013-988delAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HIF1AN_chr10_100530943_100564998	100558520	TGACAGCC others(43): Show TGACAGCCAAGGAAATTTGCCACTGAGACAAGGTATCTGACAGCCTAGAT G	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0017 a0001c0001t0081g0017	1	318	0.0031	-50	c.10 others(63): Show c.10385_*10434delACAGCCAAGGAAATTTGCCACTGAGACAAGGT ATCTGACAGCCTAGATGG	HIF1AN	ENSG00000166135.14	transcript	ENST00000299163.7	protein_coding	8/8	10385	INFO_REALIGN_3_PRIME	chr10	TogoVar
HINT3_chr6_125951770_125985244	125962235	CACATATA others(43): Show CACATATATATATATACACACATATATATATATATACATACATATATATA T	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG04204.hp2 HG02074.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0104 a0001c0001t0001g0007 a0001c0001t0001g0104	2	259	0.0077	-50	c.202 others(67): Show c.202-4648_202-4599delTATATATATATACACACATATATATATA TATACATACATATATATATACA	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41824766	TATATATA others(43): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0030 a0030	a0030c0037 a0030c0037	a0030c0037t0071 a0030c0037t0071	a0030c0037t0071g0117 a0030c0037t0071g0117	1	121	0.0083	-50	c.-80 others(71): Show c.-801+93597_-801+93646delCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATATATATATATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HOMEZ_chr14_23267422_23291132	23273450	TAAAGACG others(43): Show TAAAGACGATGCCCTTTTATTGCTACAATTCTATCACTTTTACAAGCTCT A	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0184	1	392	0.0026	-50	c.20 others(61): Show c.2075_*2124delTAGAGCTTGTAAAAGTGATAGAATTGTAGCAATA AAAGGGCATCGTCTTT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	2/2	2075		chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280610	GCTCCCTG others(43): Show GCTCCCTGTGTGGGCACTAGAGACCCTTTAACACATCCATCACCCTTTAC T	G G	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0193 a0001c0002t0002g0193	1	392	0.0026	-50	c.41- others(65): Show c.41-3473_41-3424delAGTAAAGGGTGATGGATGTGTTAAAGGGTC TCTAGTGCCCACACAGGGAG	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOOK3_chr8_42891978_43035535	43033048	GCGGGGCG others(43): Show GCGGGGCGGCTGGGGGGGGTGGGGGGCTGACCCCGCCACCTCCCTCCCGG A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0143 a0001c0001t0038g0143	1	160	0.0063	-50	c.14 others(63): Show c.14551_*14600delCGGGGCGGCTGGGGGGGGTGGGGGGCTGACCC CGCCACCTCCCTCCCGGA	HOOK3	ENSG00000168172.9	transcript	ENST00000307602.9	protein_coding		2514		chr8	TogoVar
HPS1_chr10_98411198_98451935	98446132	AGCACTGT others(43): Show AGCACTGTGAGCCAGTAAGAGGCAAGTGACTACCCGCCACAGAGACTGCT G	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02258.hp2 HG03195.hp1 HG01081.hp2 HG02258.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0012 a0002c0006t0008 a0001c0001t0012 a0002c0006t0008	a0001c0001t0012g0051 a0002c0006t0008g0342 a0001c0001t0012g0051 a0002c0006t0008g0342	3	432	0.0069	-50	c.-10 others(67): Show c.-106+625_-106+674delCAGCAGTCTCTGTGGCGGGTAGTCACTT GCCTCTTACTGGCTCACAGTGC	HPS1	ENSG00000107521.21	transcript	ENST00000361490.9	protein_coding	1/19			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132191	AAGAGAGA others(43): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00639.hp2 others(12): Show HG00099.hp1 HG00438.hp2 HG00639.hp2 HG00673.hp1 HG02083.hp1 HG02129.hp1 HG02523.hp2 HG02622.hp1 HG02897.hp1 HG03209.hp1 HG03654.hp2 HG03710.hp2 NA18747.hp2 NA18974.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0022 a0002c0002t0002 a0002c0002t0010 a0002c0002t0013 a0003c0003t0003 a0005c0005t0001	a0001c0001t0001g0052 a0001c0001t0004g0033 a0001c0001t0004g0064 others(12): Show a0001c0001t0001g0052 a0001c0001t0004g0033 a0001c0001t0004g0064 a0001c0001t0005g0091 a0001c0001t0009g0057 a0001c0001t0022g0035 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0061 a0002c0002t0002g0119 a0002c0002t0010g0056 a0002c0002t0013g0063 a0003c0003t0003g0090 a0005c0005t0001g0085	15	99	0.1515	-50	c.610 others(69): Show c.610+11997_610+12046delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HRCT1_chr9_35901202_35912136	35905696	AGTGTCTC others(43): Show AGTGTCTCCTGAGCCATGGAGTCCATTGCAGTAATATCAGTTGCAAACAT G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0001 a0014c0020t0001	a0014c0020t0001g0000 a0014c0020t0001g0000	1	428	0.0023	-50	c.-59 others(59): Show c.-591_-542delGTGTCTCCTGAGCCATGGAGTCCATTGCAGTAATAT CAGTTGCAAACATG	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding		505		chr9	TogoVar
HRCT1_chr9_35901202_35912136	35909741	AGCACCTG others(43): Show AGCACCTGATACTCTATCTAAACTGCATGATCCCAGCGCCATGCAGAAAA G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	-50	c.31 others(61): Show c.3107_*3156delGCACCTGATACTCTATCTAAACTGCATGATCCCA GCGCCATGCAGAAAAG	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding		2606		chr9	TogoVar
HRH3_chr20_62209960_62225278	62213365	GGTGGGGG others(43): Show GGTGGGGGAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGG T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	192	0.0052	-50	c.25 others(61): Show c.2591_*2640delACCCATCCCCGCTCTCCTTCCCCCACCCATCCCC ACTCTCCTTCCCCCAC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1594		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86985383	TACACACA others(43): Show TACACACACACACACACATATATATACACATATATATACACATATATACA C	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0061 a0001c0001t0010g0061	1	129	0.0078	-50	c.124 others(69): Show c.124+70227_124+70276delCACACACACACACATATATATACACA TATATATACACATATATACACACA	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSD17B11_chr4_87331515_87396188	87378879	TAAATATA others(43): Show TAAATATATATATATAAATATATATAAATATATATATATAAATATATATA A	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0256 a0001c0002t0001g0256	1	388	0.0026	-50	c.318 others(67): Show c.318+3326_318+3375delTTATATATATTTATATATATATATTTAT ATATATTTATATATATATATTT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B6_chr12_56758324_56792790	56783620	GCGGCTGG others(43): Show GCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCACCTCCCTCTCGGACGGG A	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01081.hp1 others(29): Show HG00140.hp1 HG00323.hp1 HG01081.hp1 HG01123.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01978.hp2 HG02056.hp2 HG02257.hp1 HG02257.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18942.hp2 NA19030.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0003c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0031 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0126 a0001c0001t0001g0203 a0001c0001t0001g0235 a0001c0001t0002g0040 a0001c0001t0002g0062 a0001c0001t0005g0096 a0003c0004t0001g0034	32	358	0.0894	-50	c.573 others(67): Show c.573-1220_573-1171delTGGGGGGCTGACCCCCCCCACCTCCCTC TCGGACGGGACGGCTGGCCGGG	HSD17B6	ENSG00000025423.11	transcript	ENST00000322165.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
HSD17B6_chr12_56758324_56792790	56789518	CCACCTCC others(43): Show CCACCTCCCTCCCGGACGGGACGGCTGGCCGGGCGGGGGGCTGACCCCCC T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp2 others(87): Show HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02074.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02976.hp2 HG03579.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18973.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(72): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0184 a0001c0001t0001g0228 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0297	90	358	0.2514	-50	c.21 others(61): Show c.2177_*2226delCACCTCCCTCCCGGACGGGACGGCTGGCCGGGCG GGGGGCTGACCCCCCT	HSD17B6	ENSG00000025423.11	transcript	ENST00000322165.1	protein_coding		1729		chr12	TogoVar
HSD17B6_chr12_56758324_56792790	56789534	CGGGACGG others(43): Show CGGGACGGCTGGCCGGGCGGGGGGCTGACCCCCCTCACCTCCCTCCCGGA G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03516.hp2 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0237 a0001c0001t0001g0112 a0001c0001t0001g0237	2	358	0.0056	-50	c.21 others(61): Show c.2193_*2242delGGGACGGCTGGCCGGGCGGGGGGCTGACCCCCCT CACCTCCCTCCCGGAG	HSD17B6	ENSG00000025423.11	transcript	ENST00000322165.1	protein_coding		1745		chr12	TogoVar
HSF1_chr8_144286604_144319720	144313639	GCCTCCCC others(43): Show GCCTCCCCGCCCCGCCTCCCCGCCGCGCCGCCCCGCCTCCCCGCCCCGCC T	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp2 HG03130.hp2 HG02109.hp2 HG03098.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0071 a0001c0001t0001g0013 a0001c0001t0001g0071	3	325	0.0092	-50	c.124 others(65): Show c.1248+26_1248+75delTCCCCGCCCCGCCTCCCCGCCGCGCCGCCC CGCCTCCCCGCCCCGCCTCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPBAP1_chr3_122734999_122798831	122780271	GCCGGGCG others(43): Show GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG C	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	348	0.0029	-50	c.65- others(65): Show c.65-2415_65-2366delGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGG	HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	1/7			chr3	TogoVar
HTR1F_chr3_87787706_87998839	87987679	ATATTTTA others(43): Show ATATTTTATATATATAAAATATATGTATTATATATATGTATTTTATATAT G	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp1 HG02055.hp2 others(5): Show HG00735.hp2 HG01070.hp1 HG02055.hp2 HG02717.hp2 HG02976.hp1 HG03471.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 others(5): Show a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0130 a0001c0001t0002g0132 a0001c0001t0002g0231 a0001c0001t0014g0246	8	248	0.0323	-50	c.-42 others(67): Show c.-42-2944_-42-2895delATGTATTTTATATATGTATTTTATATAT ATAAAATATATGTATTATATAT	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
IFT74_chr9_26951412_27071134	27022038	CTCCTACT others(43): Show CTCCTACTTGTGGCTTGCCAATTATCCCAGCACCATTTGTTGAATAGGGT G	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	340	0.0029	-50	c.974 others(67): Show c.974+3356_974+3405delACTTGTGGCTTGCCAATTATCCCAGCAC CATTTGTTGAATAGGGTGTCCT	IFT74	ENSG00000096872.17	transcript	ENST00000380062.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
IFT81_chr12_110119357_110223793	110162251	GGTGTTAC others(43): Show GGTGTTACCTTCTATTGACTTGAACTAGGATGTATTTTCATTAGCATTTG A	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0174 a0001c0001t0006g0174	1	216	0.0046	-50	c.104 others(67): Show c.1042-661_1042-612delCCTTCTATTGACTTGAACTAGGATGTAT TTTCATTAGCATTTGAGTGTTA	IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
IGF2BP1_chr17_48992385_49061145	49019937	TATATATA others(43): Show TATATATATATATTTATATACACACACACACACACACACATACACCCACA C	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0067 a0001c0001t0031g0067	1	312	0.0032	-50	c.237 others(67): Show c.237-5671_237-5622delTATTTATATACACACACACACACACACA CATACACCCACACATATATATA	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
IGF2R_chr6_159964082_160116504	160100723	CCTTTTTT others(43): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02165.hp1 HG03669.hp2 others(1): Show HG00639.hp2 HG02165.hp1 HG03669.hp2 NA18977.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0006 a0001c0002 a0001c0004 a0004c0006	a0001c0002t0076 a0001c0004t0048 a0004c0006t0002 a0001c0002t0076 a0001c0004t0048 a0004c0006t0002	a0001c0002t0076g0293 a0001c0004t0048g0174 a0004c0006t0002g0076 others(1): Show a0001c0002t0076g0293 a0001c0004t0048g0174 a0004c0006t0002g0076 a0004c0006t0002g0084	4	24	0.1667	-50	c.684 others(69): Show c.6843-1795_6843-1746delCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	45/47			chr6	TogoVar
IGSF21_chr1_18102798_18383483	18273445	ACTTTCTT others(43): Show ACTTTCTTTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT T	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01070.hp2 others(23): Show HG00639.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0012 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0002c0002t0003 a0002c0002t0012 a0003c0003t0002 a0003c0003t0022 a0004c0012t0018 a0005c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0029 others(23): Show a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0059 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0002g0107 a0001c0001t0002g0126 a0001c0001t0003g0150 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0198 a0001c0001t0009g0034 a0001c0001t0011g0148 a0001c0001t0012g0138 a0001c0001t0020g0207 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0012g0137 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0022g0221 a0004c0012t0018g0041 a0005c0007t0001g0065	26	217	0.1198	-50	c.184 others(69): Show c.184-18406_184-18357delCTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18354841	AGCTTTCC others(43): Show AGCTTTCCTGTTTGCTCAGCACTTTGCTATCCTTACAGAAGGTTTATGTT T	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp2 HG00738.hp1 others(81): Show HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01978.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02572.hp2 HG02615.hp1 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp2 NA18944.hp1 NA18953.hp2 NA18964.hp2 NA18982.hp1 NA18986.hp2 NA18994.hp1 NA19007.hp1 NA19056.hp2 NA19057.hp1 NA19079.hp1 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0009 others(1): Show a0001c0001 a0001c0004 a0001c0009 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0004t0003 a0001c0009t0005 a0003c0003t0002 a0003c0003t0004 a0003c0003t0009 a0003c0003t0015 a0003c0003t0017	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0025 others(81): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0091 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0003g0001 a0001c0001t0003g0150 a0001c0001t0003g0173 a0001c0001t0003g0181 a0001c0001t0003g0189 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0216 a0001c0001t0003g0220 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0182 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0005g0232 a0001c0001t0005g0236 a0001c0001t0005g0241 a0001c0001t0005g0243 a0001c0001t0005g0246 a0001c0001t0007g0088 a0001c0001t0007g0119 a0001c0001t0009g0105 a0001c0001t0011g0208 a0001c0001t0011g0210 a0001c0001t0012g0125 a0001c0001t0016g0225 a0001c0001t0016g0227 a0001c0001t0020g0207 a0001c0001t0021g0199 a0001c0004t0003g0213 a0001c0009t0005g0239 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0144 a0003c0003t0004g0209 a0003c0003t0009g0143 a0003c0003t0015g0035 a0003c0003t0017g0024	84	246	0.3415	-50	c.425 others(67): Show c.425-7223_425-7174delGCTTTCCTGTTTGCTCAGCACTTTGCTA TCCTTACAGAAGGTTTATGTTT	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL19_chr1_206765773_206847981	206781945	AGTTATAT others(43): Show AGTTATATATACATATATATGTATATGTTATATATACATATATATGTATA T	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01346.hp2 HG01978.hp2 others(11): Show HG01175.hp2 HG01346.hp2 HG01978.hp2 HG02015.hp1 HG02293.hp1 HG02698.hp2 NA18612.hp2 NA18946.hp1 NA18950.hp1 NA18971.hp1 NA19012.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0151 others(11): Show a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0151 a0001c0001t0003g0344 a0002c0002t0002g0239 a0002c0002t0004g0128 a0002c0002t0004g0143 a0002c0002t0004g0147 a0002c0002t0004g0148 a0002c0002t0004g0154 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0171 a0002c0002t0006g0130	14	359	0.0390	-50	c.-14 others(71): Show c.-149+10893_-149+10942delGTTATATATACATATATATGTATA TGTTATATATACATATATATGTATAT	IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL2RA_chr10_6005689_6067367	6031444	ATATATAT others(43): Show ATATATATATACATATATATATATATATATATATATATATATATATATAT G	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02155.hp1 HG03139.hp1 others(7): Show HG01891.hp2 HG02155.hp1 HG03139.hp1 NA18944.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18995.hp2 NA18997.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0200 others(6): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0200 a0001c0001t0003g0144 a0001c0001t0009g0016 a0001c0001t0009g0174 a0001c0001t0009g0175 a0001c0001t0009g0180 a0001c0001t0009g0202	10	412	0.0243	-50	c.65- others(65): Show c.65-5469_65-5420delCATATATATATATATATATATATATATATA TATATATATGTATATATATA	IL2RA	ENSG00000134460.19	transcript	ENST00000379959.8	protein_coding	1/7			chr10	TogoVar
IMMP2L_chr7_110657644_111567492	111281199	AAAGAAAG others(43): Show AAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGA G	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	84	0.0119	-50	c.239 others(71): Show c.239+205989_239+206038delCTCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTTCTTTCTTTCTTTCTT	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	3/5			chr7	TogoVar
IMPA1_chr8_81651914_81691325	81684877	CTATGTAT others(43): Show CTATGTATAGTATATATACTATACATAAGTATATTTAGATACTATGTATA G	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0221 a0001c0001t0011g0221	1	378	0.0026	-50	c.-25 others(67): Show c.-25+1325_-25+1374delCTATACATAGTATCTAAATATACTTATG TATAGTATATATACTATACATA	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
INO80_chr15_40973880_41121280	41041884	GAGTACAG others(43): Show GAGTACAGTGGTGCACTCAGGGTTCACTGCAGCCTTGACATCCTGGGTTC A	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0088 a0001c0001t0017g0088	1	280	0.0036	-50	c.290 others(69): Show c.2907+2970_2907+3019delTGAACCCAGGATGTCAAGGCTGCAGT GAACCCTGAGTGCACCACTGTACT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INPP5F_chr10_119721050_119834147	119794700	ACCCCCCA others(43): Show ACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGGCTGA C	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0003 a0001c0003t0018g0003	1	326	0.0031	-50	c.670 others(67): Show c.670-1980_670-1931delAGGTGGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCC	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INSC_chr11_15109923_15252208	15229963	TATATATA others(43): Show TATATATATATATATATTATATATATATATATATATATATATATATATAT A	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp2 HG01256.hp1 others(48): Show HG00099.hp1 HG01081.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01952.hp1 HG02040.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02273.hp2 HG02698.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18973.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19000.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0012 others(1): Show a0001c0001 a0001c0003 a0001c0012 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 a0001c0003t0002 a0001c0012t0001 a0003c0005t0001 a0003c0005t0004	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 others(46): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0003g0005 a0001c0001t0003g0013 a0001c0001t0003g0054 a0001c0001t0003g0096 a0001c0001t0003g0188 a0001c0001t0003g0203 a0001c0001t0004g0176 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0117 a0001c0001t0006g0175 a0001c0001t0018g0098 a0001c0003t0002g0114 a0001c0012t0001g0204 a0003c0005t0001g0216 a0003c0005t0004g0082	51	254	0.2008	-50	c.117 others(69): Show c.1170+4152_1170+4201delTATATATATATATATATATATATATA TATATATAATATATATATATATAT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSR_chr19_7107265_7299414	7124562	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19000.hp1 NA19066.hp1 NA18968.hp1 NA19000.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0025 a0001c0003t0080 a0001c0004t0025 a0001c0003t0025 a0001c0003t0080 a0001c0004t0025	a0001c0003t0025g0077 a0001c0003t0080g0091 a0001c0004t0025g0047 a0001c0003t0025g0077 a0001c0003t0080g0091 a0001c0004t0025g0047	3	294	0.0102	-50	c.325 others(67): Show c.3258+671_3258+720delATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INTS9_chr8_28762661_28894969	28881476	AGGGGGGG others(43): Show AGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG T	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01255.hp1 HG01261.hp2 others(1): Show HG00642.hp2 HG01255.hp1 HG01261.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0287 others(1): Show a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0287 a0001c0001t0001g0288	4	53	0.0755	-50	c.9+8 others(63): Show c.9+8348_9+8397delACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCC	INTS9	ENSG00000104299.15	transcript	ENST00000521022.6	protein_coding	1/16			chr8	TogoVar
IPCEF1_chr6_154149496_154361803	154357869	TATATATA others(43): Show TATATATATAAAATATATATATATAATATATATATAAAATATATATATAT A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	248	0.0040	-50	c.-13 others(61): Show c.-1309_-1260delTATATATATATATTTTATATATATATTATATATA TATATTTTATATATAT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		1067		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154357908	TATATATA others(43): Show TATATATATATAATATATATATAAAATATATATATATAATATATATATAA A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0212 a0001c0001t0004g0212	1	261	0.0038	-50	c.-13 others(61): Show c.-1348_-1299delTTTATATATATATTATATATATATATTTTATATA TATATTATATATATAT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		1106		chr6	TogoVar
IQCE_chr7_2553979_2619728	2577665	GGGGACGT others(43): Show GGGGACGTGTGTGCGGCGTGCACGCATTGGCGTGTGCGTGGCTGTGCGCG C	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01433.hp2 HG03654.hp1 others(2): Show HG01255.hp1 HG01433.hp2 HG03654.hp1 NA19030.hp1 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 others(1): Show a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0003c0005t0008	a0001c0001t0026g0373 a0001c0001t0028g0311 a0001c0001t0031g0141 others(2): Show a0001c0001t0026g0373 a0001c0001t0028g0311 a0001c0001t0031g0141 a0003c0005t0008g0178 a0003c0005t0008g0194	5	414	0.0121	-50	c.466 others(65): Show c.466-573_466-524delACGTGTGTGCGGCGTGCACGCATTGGCGTG TGCGTGGCTGTGCGCGCGGG	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results