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
CYP4F11_chr19_15907377_15939529	15933223	A A	AGCAGAGG others(33): Show AGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0038 a0002c0001t0038	a0002c0001t0038g0343 a0002c0001t0038g0343	1	163	0.0061	40	c.198 others(55): Show c.198+987_198+988insCCGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTGC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933225	G G	GAGAGGAA others(33): Show GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGGGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0035 a0002c0001t0035	a0002c0001t0035g0014 a0002c0001t0035g0014	1	323	0.0031	40	c.198 others(55): Show c.198+985_198+986insGCCCACTCACTCATTCCTCTCCTCACTCAC TCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933283	A A	AGCAGAGG others(33): Show AGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01433.hp2 HG01258.hp2 HG01433.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0057 a0002c0001t0131 a0002c0001t0057 a0002c0001t0131	a0002c0001t0057g0315 a0002c0001t0131g0316 a0002c0001t0057g0315 a0002c0001t0131g0316	2	202	0.0099	40	c.198 others(55): Show c.198+927_198+928insCCGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTGC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933665	G G	GAGAGGAA others(33): Show GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0012 a0002c0001t0012	a0002c0001t0012g0169 a0002c0001t0012g0169	1	346	0.0029	40	c.198 others(55): Show c.198+545_198+546insGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933705	G G	GAGAGGAA others(33): Show GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0028 a0001c0004t0004g0028	1	326	0.0031	40	c.198 others(55): Show c.198+505_198+506insGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933765	G G	GAGAGGAA others(33): Show GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0180 a0002c0001t0006g0180	1	355	0.0028	40	c.198 others(55): Show c.198+445_198+446insGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933901	T T	TGAGGAGA others(33): Show TGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0062 a0002c0001t0062	a0002c0001t0062g0013 a0002c0001t0062g0013	1	131	0.0076	40	c.198 others(55): Show c.198+309_198+310insGCTCACTCATTCCTCTGCTCACTCACTCAT TCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15674651	C C	CCACTCAC others(33): Show CCACTCACTCATTCCTCTGCTTACTCAGTCATTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02615.hp1 others(5): Show HG02257.hp2 HG02486.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp2 HG03486.hp1 HG03540.hp1 NA19030.hp2	a0005 a0012 a0014 a0005 a0012 a0014	a0005c0007 a0012c0022 a0014c0021 a0005c0007 a0012c0022 a0014c0021	a0005c0007t0004 a0012c0022t0007 a0014c0021t0004 a0005c0007t0004 a0012c0022t0007 a0014c0021t0004	a0005c0007t0004g0226 a0005c0007t0004g0227 a0005c0007t0004g0228 others(5): Show a0005c0007t0004g0226 a0005c0007t0004g0227 a0005c0007t0004g0228 a0005c0007t0004g0229 a0005c0007t0004g0230 a0005c0007t0004g0231 a0012c0022t0007g0225 a0014c0021t0004g0224	8	408	0.0196	40	c.198 others(55): Show c.198+941_198+942insGCTTACTCAGTCATTCCTCTCCTCACTCAC TCATTCCTCT	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15676416	T T	TTCACTCA others(33): Show TTCACTCATTCCTCTGCTCACTCACTCATTCCAATACCAAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0226 a0005c0007t0004g0226	1	400	0.0025	40	c.199 others(57): Show c.199-1831_199-1830insGCTCACTCACTCATTCCAATACCAACTC ACTCATTCCTCT	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15677069	G G	GTCCTCAC others(33): Show GTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0115 a0003c0003t0002g0115	1	26	0.0385	40	c.199 others(57): Show c.199-1190_199-1151dupCCTCACTCACTCATTCCTCTCCTCACTC ACTCATTCCTCT	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15677942	A A	ATTCCTCT others(33): Show ATTCCTCTGCTCACTCACTCATTCCTCTCCTCACTCATTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02717.hp2 others(3): Show HG02145.hp2 HG02559.hp2 HG02717.hp2 HG03471.hp2 HG03579.hp1 NA18957.hp1	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0002 a0003c0003 a0011c0018 a0002c0002 a0003c0003 a0011c0018	a0002c0002t0001 a0003c0003t0004 a0011c0018t0001 a0002c0002t0001 a0003c0003t0004 a0011c0018t0001	a0002c0002t0001g0017 a0002c0002t0001g0147 a0003c0003t0004g0121 others(1): Show a0002c0002t0001g0017 a0002c0002t0001g0147 a0003c0003t0004g0121 a0011c0018t0001g0017	6	407	0.0147	40	c.199 others(55): Show c.199-312_199-311insGCTCACTCACTCATTCCTCTCCTCACTCAT TCCTTCCTCT	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15677993	C C	CACTCACT others(33): Show CACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTTCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0121 a0003c0003t0004g0121	1	29	0.0345	40	c.199 others(55): Show c.199-240_199-239insATTCCTCTTCCTACTCACTCATTCCTCTCC TCACTCACTC	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F22_chr19_15503525_15557317	15509922	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG01074.hp2 HG01109.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0016 a0001c0001 a0006c0016	a0001c0001t0001 a0006c0016t0005 a0001c0001t0001 a0006c0016t0005	a0001c0001t0001g0103 a0006c0016t0005g0109 a0001c0001t0001g0103 a0006c0016t0005g0109	2	150	0.0133	40	c.-10 others(59): Show c.-109+1365_-109+1366insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	CYP4F22	ENSG00000171954.13	transcript	ENST00000269703.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650738	T T	TTTTCTCT others(33): Show TTTTCTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTTCC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0098 a0002c0003t0003g0098	1	181	0.0055	40	c.918 others(55): Show c.918+557_918+558insTCTCTCTTTCTTTCTTTCTCTTTCTTTCTT TCTTTTCCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F8_chr19_15610218_15635639	15616236	C C	CCACTCAT others(33): Show CCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG03486.hp1 HG02486.hp2 HG02615.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066 a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066	3	255	0.0118	40	c.198 others(55): Show c.198+459_198+498dupCGCTCACTCATTCCTCTCCTCGCTCACTCA TTCCTCTCCT	CYP4F8	ENSG00000186526.13	transcript	ENST00000612078.5	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP7B1_chr8_64585851_64803737	64643088	T T	TATATATA others(33): Show TATATATATACACATATATATACATATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	141	0.0071	40	c.123 others(59): Show c.123-18589_123-18550dupGTATATATGTATATATATGTATATAT ATGTGTATATATAT	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01243.hp2 HG02004.hp1 others(6): Show HG01168.hp2 HG01243.hp2 HG02004.hp1 HG02074.hp2 HG02155.hp2 HG02630.hp1 HG03209.hp2 HG03834.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0022 a0001c0003t0001	a0001c0001t0001g0090 a0001c0001t0001g0142 a0001c0001t0001g0215 others(6): Show a0001c0001t0001g0090 a0001c0001t0001g0142 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0004g0009 a0001c0001t0021g0227 a0001c0001t0022g0057 a0001c0003t0001g0272	9	18	0.5000	40	c.-13 others(61): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTTTATAT others(33): Show TTTTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	10	0.1000	40	c.-13 others(61): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATATATATATAAA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYTH3_chr7_6156779_6277624	6259768	T T	TTATATAT others(33): Show TTATATATATATATTATATATATATATAATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	343	0.0029	40	c.34+ others(57): Show c.34+12705_34+12706insTATATATATATATTATATATATATATAA TATATATATATA	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241742908	C C	CGTGGCAG others(33): Show CGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0021 a0021	a0021c0033 a0021c0033	a0021c0033t0008 a0021c0033t0008	a0021c0033t0008g0321 a0021c0033t0008g0321	1	410	0.0024	40	c.490 others(55): Show c.490+373_490+374insTGTGGCAGGCGTGAGGGGATCCTGACCCAG GGCGCCAGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241743140	C C	CGCCAGGG others(33): Show CGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03453.hp1 HG03471.hp2 HG02647.hp2 HG03453.hp1 HG03471.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0023 a0002c0002 a0004c0023	a0002c0002t0033 a0004c0023t0002 a0002c0002t0033 a0004c0023t0002	a0002c0002t0033g0180 a0002c0002t0033g0181 a0004c0023t0002g0172 a0002c0002t0033g0180 a0002c0002t0033g0181 a0004c0023t0002g0172	3	235	0.0128	40	c.491 others(55): Show c.491-475_491-474insCGTGGCAGGCGTGAGGGGATCCTGACCCAG GGTGCCAGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241760378	C C	CTTCGCCA others(33): Show CTTCGCCATAGCGTGAGTGGGCCTTACCCAGTCGAAGGCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0362 a0003c0003t0005g0362	1	410	0.0024	40	c.130 others(59): Show c.1306+4366_1306+4367insCGCCATAGCGTGAGTGGGCCTTACCC AGTCGAAGGCCTTT	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DACH2_chrX_86143451_86837602	86429535	A A	ATTTCTTT others(33): Show ATTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02135.hp1 NA18948.hp1 others(2): Show HG02080.hp2 HG02135.hp1 NA18948.hp1 NA18952.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0080 a0001c0001t0001g0081 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0002g0044	5	71	0.0704	40	c.527 others(59): Show c.527+52711_527+52712insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACT1_chr14_58632962_58653321	58652848	T T	TCCCTCTC others(33): Show TCCCTCTCTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	1	380	0.0026	40	c.57 others(51): Show c.5714_*5715insCCCTCTCTCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTC	DACT1	ENSG00000165617.16	transcript	ENST00000395153.8	protein_coding		4528		chr14	TogoVar
DAGLB_chr7_6404129_6452954	6430250	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03927.hp1 HG03831.hp2 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0093 a0001c0002t0002g0089 a0001c0002t0002g0093	2	90	0.0222	40	c.929 others(55): Show c.929+229_929+230insATATATATATATATATATATATATATATAT ATATATATAT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	6/14			chr7	TogoVar
DAO_chr12_108875092_108906043	108903287	G G	GAGAAAGG others(33): Show GAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01891.hp1 HG02040.hp1 others(30): Show HG01123.hp2 HG01891.hp1 HG02040.hp1 HG02071.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02683.hp1 HG03471.hp2 HG04115.hp1 HG04199.hp2 NA18950.hp1 NA18951.hp1 NA18962.hp1 NA18967.hp2 NA18970.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19012.hp2 NA19064.hp1 NA19064.hp2 NA19081.hp1 NA19088.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(25): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0232 a0001c0001t0002g0242 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0269 a0001c0001t0002g0290 a0001c0002t0001g0286	33	171	0.1930	40	c.27 others(51): Show c.2752_*2753insAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2245		chr12	TogoVar
DAO_chr12_108875092_108906043	108903287	G G	GAGGAAGG others(33): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG06807.hp2 HG01884.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0159 a0001c0001t0004g0032 a0001c0001t0004g0159	2	140	0.0143	40	c.27 others(51): Show c.2752_*2753insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2245		chr12	TogoVar
DAPK1_chr9_87492867_87713634	87571497	C C	CCCAACAC others(33): Show CCCAACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02683.hp2 HG01884.hp1 HG01884.hp2 HG02683.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0007 a0001c0001 a0001c0005 a0003c0007	a0001c0001t0001 a0001c0005t0001 a0003c0007t0001 a0001c0001t0001 a0001c0005t0001 a0003c0007t0001	a0001c0001t0001g0236 a0001c0005t0001g0235 a0003c0007t0001g0036 a0001c0001t0001g0236 a0001c0005t0001g0235 a0003c0007t0001g0036	3	109	0.0275	40	c.63- others(57): Show c.63-33457_63-33456insCCAACACACACACACACACACACACACA CACACACACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPK2_chr15_63902036_64051485	64036305	G G	GTATATAT others(33): Show GTATATATATGTATATATATATATATGTATATATATATACA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	149	0.0067	40	c.92+ others(55): Show c.92+3864_92+3865insTGTATATATATATACATATATATATATATA CATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036306	T T	TATATGTA others(33): Show TATATGTATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0067 a0001c0001t0013g0067	1	211	0.0047	40	c.92+ others(55): Show c.92+3863_92+3864insGTATATATATATATATATATATATATATAT ATATACATAT	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAW1_chr2_227866631_227929344	227911267	C C	CATATACA others(33): Show CATATACACGTGTATATATACATATATACACGTGTATATGT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	17	0.0588	40	c.973 others(57): Show c.973+4016_973+4017insTATACACGTGTATATATACATATATACA CGTGTATATGTA	DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAZAP2_chr12_51233826_51248933	51248434	A A	ACACACAC others(33): Show ACACACACACACACTCTCACTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	290	0.0034	40	c.59 others(51): Show c.5976_*5977insCACACACACACACTCTCACTCTCTCTCTCTCTCT CTCTCT	DAZAP2	ENSG00000183283.16	transcript	ENST00000412716.8	protein_coding		4502		chr12	TogoVar
DBNDD1_chr16_89999871_90024456	90008096	C C	CCCACACC others(33): Show CCCACACCTCCCAGGATGTCCCAAGGGGCCTCACCCCCCAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	410	0.0024	40	c.319 others(55): Show c.319+687_319+688insTTGGGGGGTGAGGCCCCTTGGGACATCCTG GGAGGTGTGG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90008350	C C	CCAGGACG others(33): Show CCAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp1 HG01081.hp2 others(13): Show HG00140.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01975.hp2 HG02071.hp1 HG02273.hp2 HG02486.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0032 others(9): Show a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0002g0268	16	382	0.0419	40	c.319 others(55): Show c.319+433_319+434insAAGGGTGTGTTTGGGGGGTGAGGCCCCTTG GGACGTCCTG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNL_chr7_44039702_44074456	44043043	A A	ATAATATA others(33): Show ATAATATATGTATACATATACATATGCATATATAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03471.hp1 HG02258.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0034 a0001c0002t0033 a0001c0002t0034	a0001c0002t0033g0046 a0001c0002t0034g0046 a0001c0002t0033g0046 a0001c0002t0034g0046	2	378	0.0053	40	c.-16 others(51): Show c.-1695_-1694insTAATATATGTATACATATACATATGCATATATAA TATATG	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1658		chr7	TogoVar
DCAF15_chr19_13947509_13966449	13959894	A A	AGGTGGGC others(33): Show AGGTGGGCCCAGGGCGGGCAGGGTGGGCCCAGGGCGGGCAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02723.hp1 others(4): Show HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp1 HG03225.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0024 a0004c0007t0001g0031 a0004c0007t0001g0071 others(1): Show a0004c0007t0001g0024 a0004c0007t0001g0031 a0004c0007t0001g0071 a0004c0007t0001g0081	7	253	0.0277	40	c.144 others(55): Show c.1440+33_1440+34insGGGCAGGGTGGGCCCAGGGCGGGCAGGGTG GGCCCAGGGC	DCAF15	ENSG00000132017.11	transcript	ENST00000254337.11	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03579.hp1 HG03486.hp2 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0032 a0003c0003t0003g0064 a0003c0003t0001g0032 a0003c0003t0003g0064	2	170	0.0118	40	c.-14 others(61): Show c.-142-11914_-142-11913insTATATATATATATATATATATATA TATACACACACACACA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCBLD2_chr3_98790941_98906695	98870806	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	228	0.0044	40	c.433 others(59): Show c.433+10733_433+10734insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCC_chr18_52335197_53540899	52515606	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	4	0.2500	40	c.91+ others(59): Show c.91+174748_91+174749insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52792769	T T	TATTCCAT others(33): Show TATTCCATTCCATTCCATTCCATTCCATTCCATTCCATTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0109 a0001c0003t0032g0109	1	32	0.0313	40	c.412 others(59): Show c.412+40431_412+40432insTTCCATTCCATTCCATTCCATTCCAT TCCATTCCATTCCA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300958	A A	ATTCTTTC others(33): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01346.hp1 NA20752.hp2 HG00735.hp1 HG01346.hp1 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0001 a0005c0016 a0001c0003 a0002c0001 a0005c0016	a0001c0003t0003 a0002c0001t0002 a0005c0016t0021 a0001c0003t0003 a0002c0001t0002 a0005c0016t0021	a0001c0003t0003g0097 a0002c0001t0002g0018 a0005c0016t0021g0033 a0001c0003t0003g0097 a0002c0001t0002g0018 a0005c0016t0021g0033	3	81	0.0370	40	c.191 others(59): Show c.1912-4617_1912-4616insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300962	A A	ATTCTTTC others(33): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02486.hp1 HG03130.hp2 others(2): Show HG01069.hp1 HG02486.hp1 HG03130.hp2 HG03209.hp2 NA20129.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0003 a0002c0001 a0002c0004 others(1): Show a0001c0003 a0002c0001 a0002c0004 a0009c0019	a0001c0003t0003 a0002c0001t0001 a0002c0004t0013 others(2): Show a0001c0003t0003 a0002c0001t0001 a0002c0004t0013 a0002c0004t0014 a0009c0019t0005	a0001c0003t0003g0041 a0002c0001t0001g0044 a0002c0004t0013g0042 others(2): Show a0001c0003t0003g0041 a0002c0001t0001g0044 a0002c0004t0013g0042 a0002c0004t0014g0043 a0009c0019t0005g0014	5	28	0.1786	40	c.191 others(59): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300981	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0022 a0002c0001t0001g0022	1	114	0.0088	40	c.191 others(59): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCTTTCT TTATTTCTTTCTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53351316	C C	CTATATAT others(33): Show CTATATATATATATATAGTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0088 a0002c0001t0005g0088	1	97	0.0103	40	c.235 others(61): Show c.2359+11409_2359+11410insTATATATATATATATAGTATATAT ATATATATATATATAT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	15/28			chr18	TogoVar
DCDC1_chr11_30858603_31374739	31250415	C C	CACACACA others(33): Show CACACACACACACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	114	0.0088	40	c.105 others(59): Show c.1055-8800_1055-8799insATATATATATATATATGTGTGTGTGT GTGTGTGTGTGTGT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCDC2_chr6_24166755_24363059	24220871	A A	AGAGAGAC others(33): Show AGAGAGACAGAGAGCGAGAGCGAGAGAGTGAGCGAGCGAGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 NA19086.hp1 HG02258.hp1 HG02280.hp2 NA19086.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0009 a0005c0008t0002 a0005c0008t0028 a0002c0002t0009 a0005c0008t0002 a0005c0008t0028	a0002c0002t0009g0127 a0005c0008t0002g0069 a0005c0008t0028g0169 a0002c0002t0009g0127 a0005c0008t0002g0069 a0005c0008t0028g0169	3	206	0.0146	40	c.923 others(59): Show c.923-15770_923-15769insGCTCGCTCGCTCACTCTCTCGCTCTC GCTCTCTGTCTCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24220879	A A	AGAGCGAG others(33): Show AGAGCGAGAGAGTGAGCGAGCGAGCGAGAGAGTGAGCGAGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0034 a0003c0003t0002g0034	1	50	0.0200	40	c.923 others(59): Show c.923-15817_923-15778dupGCTCGCTCACTCTCTCGCTCGCTCGC TCACTCTCTCGCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24220879	A A	AGAGCGAG others(33): Show AGAGCGAGAGAGTGAGCGAGCGAGCGAGCGAGAGAGTGAGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0086 a0003c0003t0012g0086	1	50	0.0200	40	c.923 others(59): Show c.923-15778_923-15777insGCTCACTCTCTCGCTCGCTCGCTCGC TCACTCTCTCGCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24220879	A A	AGAGCGAG others(33): Show AGAGCGAGCGAGTGAGCGAGCGAGCGAGAGAGTGAGCGAGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02129.hp1 HG02615.hp1 others(2): Show HG00438.hp2 HG02129.hp1 HG02615.hp1 NA18951.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0010 a0001c0001t0033 others(1): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0033 a0002c0002t0013	a0001c0001t0008g0200 a0001c0001t0010g0198 a0001c0001t0010g0210 others(2): Show a0001c0001t0008g0200 a0001c0001t0010g0198 a0001c0001t0010g0210 a0001c0001t0033g0061 a0002c0002t0013g0164	5	54	0.0926	40	c.923 others(59): Show c.923-15778_923-15777insGCTCGCTCACTCTCTCGCTCGCTCGC TCACTCGCTCGCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24220879	A A	AGAGCGAG others(33): Show AGAGCGAGCGAGTGAGCGAGCGAGCGAGCGAGTGAGCGAGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0205 a0001c0001t0026g0205	1	50	0.0200	40	c.923 others(59): Show c.923-15778_923-15777insGCTCGCTCACTCGCTCGCTCGCTCGC TCACTCGCTCGCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar

Search by Variant

Search

Search Results