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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0274 a0001c0006t0001g0274	1	302	0.0033	48	c.243 others(65): Show c.243+2967_243+2968insAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATATA		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267241	C C	CTCTCTCT others(41): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0290	1	302	0.0033	48	c.304 others(65): Show c.304+9165_304+9166insCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267241	C C	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	302	0.0033	48	c.304 others(65): Show c.304+9204_304+9205insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104323622	C C	CGGGGGGC others(41): Show CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01069.hp1 others(7): Show HG00438.hp1 HG00558.hp2 HG01069.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp2 HG02056.hp2 HG02148.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0028 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0054	10	302	0.0331	48	c.121 others(67): Show c.1216-1715_1216-1714insGGGGGGCTGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGG		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	10/16						chr12	TogoVar
TXN_chr9_110238810_110261507	110244299	T T	TTATATAT others(41): Show TTATATATATACATATACATATGTATATATATACATATGTATAAATATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02109.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	2	466	0.0043	48	c.256 others(62): Show c.256-128_256-81dupCATATTTATACATATGTATATATATACATAT GTATATGTATATATATA		TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	4/4						chr9	TogoVar
TYMS_chr18_652653_678578	667400	T T	TGATGGTG others(41): Show TGATGGTGATGGAGATGGTGATGGAGATGGTGATGGTGATGGTGATGGA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	482	0.0021	48	c.455 others(65): Show c.455-1661_455-1660insAGATGGTGATGGAGATGGTGATGGTGAT GGTGATGGAGATGGTGATGG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYW1B_chr7_72569513_72833200	72632388	G G	GTATATAT others(41): Show GTATATATATAATATATATATACATATATATATATAATATATATATACA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18946.hp1 HG02080.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0263 a0001c0002t0001g0236 a0001c0002t0001g0263	2	286	0.0070	48	c.150 others(67): Show c.1507-3392_1507-3391insTGTATATATATATTATATATATATAT GTATATATATATTATATATATA		TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13						chr7	TogoVar
TYW1B_chr7_72569513_72833200	72632399	T T	TAATATAT others(41): Show TAATATATATATACGTATATATATAATATATATATACGTATATATATAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0027 a0003c0004t0001g0027	1	286	0.0035	48	c.150 others(67): Show c.1507-3403_1507-3402insTTATATATATACGTATATATATATTA TATATATACGTATATATATATT		TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13						chr7	TogoVar
TYW1_chr7_66991833_67244514	67029401	G G	GTATATAT others(41): Show GTATATATACATATATATATATACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	364	0.0028	48	c.984 others(65): Show c.984+4380_984+4381insATATATACATATATATATATACATATAT ATATATATATATATATATAT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67029407	G G	GTATATAT others(41): Show GTATATATATACATATATATATATATACATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	364	0.0028	48	c.984 others(65): Show c.984+4386_984+4387insATATATATACATATATATATATATACAT ATATATATATATATATATAT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67029407	G G	GTGTGTAT others(41): Show GTGTGTATATATATACATATATATATATATACACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG06807.hp2 others(1): Show HG01168.hp2 HG01169.hp2 HG06807.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0174 others(1): Show a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0193	4	364	0.0110	48	c.984 others(65): Show c.984+4390_984+4391insATATATATACATATATATATATATACAC ATATATATATATATATGTGT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67029409	G G	GTATATAT others(41): Show GTATATATATACACATATATATATATACATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0350 a0001c0002t0003g0350	1	364	0.0028	48	c.984 others(65): Show c.984+4388_984+4389insATATATATACACATATATATATATACAT ATATATATATATATATATAT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67029409	G G	GTATATAT others(41): Show GTATATATATACATATATATATATATACATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18522.hp1 HG03942.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0002 a0001c0001t0001 a0003c0005t0002	a0001c0001t0001g0130 a0003c0005t0002g0200 a0001c0001t0001g0130 a0003c0005t0002g0200	2	364	0.0055	48	c.984 others(65): Show c.984+4388_984+4389insATATATATACATATATATATATATACAT ATATATATATATATATATAT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67029409	G G	GTGTATAT others(41): Show GTGTATATATATACATATATATATATATACACATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG01109.hp2 others(45): Show HG00558.hp2 HG00609.hp1 HG01109.hp2 HG01261.hp1 HG01433.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG03139.hp2 HG03239.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18964.hp2 NA18969.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18988.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19080.hp1 NA19084.hp1 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0015t0001	a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0111 others(45): Show a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0003g0149 a0001c0001t0010g0162 a0001c0015t0001g0147	48	364	0.1319	48	c.984 others(65): Show c.984+4390_984+4391insATATATATACATATATATATATATACAC ATATATATATATATATATGT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
UACA_chr15_70649554_70768558	70712064	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02976.hp2 HG02895.hp2 HG02976.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0009 a0001c0003 a0005c0009	a0001c0003t0002 a0005c0009t0004 a0001c0003t0002 a0005c0009t0004	a0001c0003t0002g0218 a0005c0009t0004g0258 a0001c0003t0002g0218 a0005c0009t0004g0258	2	310	0.0065	48	c.79- others(65): Show c.79-12405_79-12404insGATATATATATATATATATATATATATA TATATATATATATATATATA		UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18						chr15	TogoVar
UBAP1_chr9_34174043_34257523	34202624	C C	CCTGTGTG others(41): Show CCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02559.hp1 HG03486.hp2 others(3): Show HG00408.hp2 HG02559.hp1 HG03486.hp2 HG03579.hp1 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0122 others(3): Show a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0122 a0001c0001t0005g0266 a0001c0001t0005g0277 a0001c0001t0005g0278	6	342	0.0175	48	c.-7- others(65): Show c.-7-18284_-7-18283insCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT		UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6						chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981184	G G	GATATATA others(41): Show GATATATATATATATTCTGGATATATATATATATATATTCTGGATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0247 a0002c0001t0002g0247	1	356	0.0028	48	c.520 others(65): Show c.520+5575_520+5576insATATATCCAGAATATATATATATATATA TCCAGAATATATATATATAT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28						chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981226	G G	GATATATA others(41): Show GATATATATATATATATTCTGGATATATATATATATATATTCTGGATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0068 a0002c0001t0002g0068	1	356	0.0028	48	c.520 others(65): Show c.520+5533_520+5534insATATCCAGAATATATATATATATATATC CAGAATATATATATATATAT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28						chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	356	0.0028	48	c.-42 others(67): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28						chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(41): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01952.hp2 NA18956.hp2 others(3): Show HG01106.hp2 HG01952.hp2 NA18956.hp2 NA18970.hp1 NA18990.hp2 NA19067.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0001 a0005c0006t0001 a0001c0002t0001 a0005c0006t0001	a0001c0002t0001g0134 a0001c0002t0001g0174 a0001c0002t0001g0188 others(3): Show a0001c0002t0001g0134 a0001c0002t0001g0174 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0199 a0005c0006t0001g0173	6	356	0.0169	48	c.-42 others(67): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATATATTTTTTTTT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28						chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(41): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0198	1	356	0.0028	48	c.-42 others(67): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATATATATTTTTTT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28						chr9	TogoVar
UBASH3B_chr11_122650722_122819473	122690194	A A	ATATATAT others(41): Show ATATATATATATATCCAATTATATATATATATATATATATATCCAATTT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0010 a0002c0011t0010	a0002c0011t0010g0090 a0002c0011t0010g0090	1	290	0.0035	48	c.161 others(67): Show c.161+33997_161+33998insCCAATTATATATATATATATATATAT ATCCAATTTTATATATATATAT		UBASH3B	ENSG00000154127.10	transcript	ENST00000284273.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
UBC_chr12_124906646_124919650	124907720	T T	TATGAATA others(41): Show TATGAATATGAATATATATATATGAATATATGAATATATATATGAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	446	0.0022	48	c.39 others(59): Show c.3993_*3994insGTATTCATATATATATTCATATATTCATATATAT ATATTCATATTCAT		UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding					3925		chr12	TogoVar
UBC_chr12_124906646_124919650	124907720	T T	TGAATATA others(41): Show TGAATATATGAATATATATATATGAATATATGAATATATATATGAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	446	0.0022	48	c.39 others(59): Show c.3993_*3994insGTATTCATATATATATTCATATATTCATATATAT ATATTCATATATTC		UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding					3925		chr12	TogoVar
UBC_chr12_124906646_124919650	124907752	A A	AATATATG others(41): Show AATATATGAATATATATATGAATATATATATATGAATATATGAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01433.hp1 HG02258.hp1 others(8): Show HG01175.hp2 HG01433.hp1 HG02258.hp1 HG02622.hp2 HG02809.hp1 HG02886.hp1 HG03041.hp2 HG03516.hp2 NA18522.hp2 NA18984.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0002 a0001c0002t0001 a0001c0005t0002	a0001c0002t0001g0001 a0001c0005t0002g0005 a0001c0002t0001g0001 a0001c0005t0002g0005	11	446	0.0247	48	c.39 others(59): Show c.3961_*3962insATATATTCATATATTCATATATATATATTCATAT ATATATTCATATAT		UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding					3893		chr12	TogoVar
UBC_chr12_124906646_124919650	124907752	A A	AATATATG others(41): Show AATATATGAATATATGAATATATATATATATGAATATATGAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 NA18964.hp2 NA18974.hp2 others(1): Show HG02071.hp2 NA18964.hp2 NA18974.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	4	446	0.0090	48	c.39 others(59): Show c.3961_*3962insATATATATTCATATATTCATATATATATATATTC ATATATTCATATAT		UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding					3893		chr12	TogoVar
UBC_chr12_124906646_124919650	124907762	T T	TATATATA others(41): Show TATATATATGAATATATATATATATGAATATATGAATATATATATATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02818.hp1 HG03942.hp2 HG00280.hp1 HG02818.hp1 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0007 a0001c0003t0001 a0001c0003t0007	a0001c0003t0001g0004 a0001c0003t0007g0029 a0001c0003t0001g0004 a0001c0003t0007g0029	3	446	0.0067	48	c.39 others(59): Show c.3951_*3952insTCATATATATATATTCATATATTCATATATATAT ATATTCATATATAT		UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding					3883		chr12	TogoVar
UBE2D2_chr5_139556339_139633434	139625172	C C	CCCAGCCT others(41): Show CCCAGCCTCCCCAGTAGCTGGGACTGCTAGTACATGCCACTACACCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00597.hp2 others(27): Show HG00280.hp1 HG00323.hp2 HG00597.hp2 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG02135.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp1 HG02738.hp1 HG02895.hp2 HG02965.hp1 HG03239.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp2 NA18974.hp1 NA18988.hp2 NA18998.hp2 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0001t0001g0056 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0002g0193	30	226	0.1327	48	c.399 others(65): Show c.399-1537_399-1490dupTTCCAGCCTCCCCAGTAGCTGGGACTGC TAGTACATGCCACTACACCT		UBE2D2	ENSG00000131508.17	transcript	ENST00000398733.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2R2_chr9_33812160_33925399	33877823	G G	GTCTGTCT others(41): Show GTCTGTCTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	366	0.0027	48	c.178 others(65): Show c.178-9055_178-9054insGTCTGTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCT		UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2U_chr1_64198623_64272368	64200434	T T	TCCCTCCC others(41): Show TCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02280.hp2 HG01433.hp2 HG02280.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0033 a0004c0005t0001g0034 a0004c0005t0001g0033 a0004c0005t0001g0034	2	330	0.0061	48	c.-36 others(59): Show c.-3617_-3616insCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCC		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding					3188		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64200440	T T	TCCCTCCC others(41): Show TCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	330	0.0030	48	c.-36 others(59): Show c.-3611_-3610insCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCC		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding					3182		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239116	A A	AGAAGAAG others(41): Show AGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	330	0.0030	48	c.596 others(65): Show c.596-2519_596-2518insGGAAGAGGAAGAGGAAGAGGAAGAGGAA GAGGAAGAAGAAGAAGAAGA		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239118	A A	AAGAAGGA others(41): Show AAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0290 a0005c0007t0001g0290	1	330	0.0030	48	c.596 others(65): Show c.596-2529_596-2528insGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAG		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239157	A A	AAGAAGAA others(41): Show AAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	330	0.0030	48	c.596 others(65): Show c.596-2494_596-2493insGAAGAAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGA		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBR1_chr15_42937897_43111038	43005385	G G	GCCCCCGC others(41): Show GCCCCCGCCTGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGGGGGGCAGC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	276	0.0036	48	c.341 others(67): Show c.3416-1456_3416-1455insGCTGCCCCCCCACCTCCCTCCCGGAG GGGGCGGCTGGCCAGGCGGGGG		UBR1	ENSG00000159459.12	transcript	ENST00000290650.9	protein_coding	30/46						chr15	TogoVar
UBR1_chr15_42937897_43111038	43075956	G G	GCCCTCTC others(41): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0003 a0013c0024t0003	a0013c0024t0003g0260 a0013c0024t0003g0260	1	276	0.0036	48	c.418 others(63): Show c.418-868_418-867insAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGG		UBR1	ENSG00000159459.12	transcript	ENST00000290650.9	protein_coding	3/46						chr15	TogoVar
UBR3_chr2_169822454_170089131	169890540	G G	GAGAGAGA others(41): Show GAGAGAGAGAGAGAGATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0226 a0001c0010t0011g0226	1	324	0.0031	48	c.103 others(65): Show c.1039-624_1039-623insGAGAGAGAGAGAGATATATATATATATA TATATATATATATATATATA		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890555	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18991.hp1 NA20905.hp2 NA18939.hp1 NA18991.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0177 a0001c0002t0002g0182 a0001c0002t0002g0113 a0001c0002t0002g0177 a0001c0002t0002g0182	3	324	0.0093	48	c.103 others(65): Show c.1039-601_1039-600insATATATATATATATATATATATGTGTGT ATATATATATGTATATATAT		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890555	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATGTGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0119	1	324	0.0031	48	c.103 others(65): Show c.1039-601_1039-600insATATATATATATATATATATGTGTGTGT ATATATATATGTATATATAT		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890555	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATGTGTGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0117 a0001c0002t0002g0117	1	324	0.0031	48	c.103 others(65): Show c.1039-601_1039-600insATATATATATATATATATGTGTGTGTGT ATATATATATGTATATATAT		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890569	A A	ATATATAT others(41): Show ATATATATATATGTATATATATATGTATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18522.hp1 HG01891.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0249 a0001c0003t0015g0252 a0001c0003t0015g0249 a0001c0003t0015g0252	2	324	0.0062	48	c.103 others(65): Show c.1039-563_1039-562insATGTATATATATATGTATATATATATGT ATATATATATGTATATATAT		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890577	A A	ATATATAT others(41): Show ATATATATGTGTATATATATATATGTATATATATGTATATATATATACG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0278 a0001c0007t0007g0278	1	324	0.0031	48	c.103 others(65): Show c.1039-585_1039-584insATATGTGTATATATATATATGTATATAT ATGTATATATATATACGTAT		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890581	G G	GTGTATAT others(41): Show GTGTATATATATATATGTGTATATATATGTATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02717.hp2 others(3): Show HG02280.hp2 HG02486.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0021 a0001c0003t0005 a0001c0003t0021	a0001c0003t0005g0253 a0001c0003t0005g0254 a0001c0003t0005g0255 others(3): Show a0001c0003t0005g0253 a0001c0003t0005g0254 a0001c0003t0005g0255 a0001c0003t0005g0256 a0001c0003t0005g0257 a0001c0003t0021g0265	6	324	0.0185	48	c.103 others(65): Show c.1039-583_1039-582insGTATATATATATATGTGTATATATATGT ATATATATATATATATGTAT		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBXN11_chr1_26277282_26311636	26282328	A A	AGGGACTG others(41): Show AGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00738.hp2 HG01081.hp2 HG01106.hp2 others(18): Show HG00738.hp2 HG01081.hp2 HG01106.hp2 HG01496.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02074.hp2 HG02080.hp2 HG02148.hp1 HG02300.hp2 NA18939.hp1 NA18940.hp2 NA18975.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA19068.hp1 NA19083.hp2 NA19090.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0006 a0002c0004t0001g0011 a0002c0004t0001g0028 others(11): Show a0002c0004t0001g0006 a0002c0004t0001g0011 a0002c0004t0001g0028 a0002c0004t0001g0065 a0002c0004t0001g0070 a0002c0004t0001g0081 a0002c0004t0001g0082 a0002c0004t0001g0083 a0002c0004t0001g0086 a0002c0004t0001g0090 a0002c0004t0001g0094 a0002c0004t0001g0099 a0002c0004t0001g0103 a0002c0004t0001g0104	21	370	0.0568	48	c.148 others(57): Show c.1486_1533dupGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCC GGCCCCAGTCCC	p.Pro others(61): Show p.Pro511_Cys512insGlyProGlyProGlyProSerProGlyProGl yProGlyProSerPro	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding	15/15	1613/1660	1533/1563	511/520			chr1	TogoVar
UCHL3_chr13_75544791_75611020	75592424	A A	ATATATGT others(41): Show ATATATGTATATACGTATATACATATATATATATATATATGTATATACG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	326	0.0031	48	c.475 others(65): Show c.475-2486_475-2485insGTATATACGTATATACATATATATATAT ATATATGTATATACGTATAT		UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
UCHL3_chr13_75544791_75611020	75592429	T T	TGTATATA others(41): Show TGTATATACATATATACATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	326	0.0031	48	c.475 others(65): Show c.475-2486_475-2485insGTATATACATATATACATATATATATAT ATATATATATATATATATAC		UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8						chr13	TogoVar
UCN3_chr10_5359966_5379692	5370134	T T	TGTGTGTA others(41): Show TGTGTGTATGCGTGTGTGTATATGCGTGTGTATATGCGTGTGTATATGC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	468	0.0021	48	c.-6- others(63): Show c.-6-3565_-6-3564insGTATATGCGTGTGTATATGCGTGTGTATAT GCGTGTGTATGCGTGTGT		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370575	G G	GTGTATAT others(41): Show GTGTATATGTGTGTGTATGTGTGTATATGCGTGTGTATATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0105 a0002c0002t0003g0105	1	468	0.0021	48	c.-6- others(63): Show c.-6-3139_-6-3138insGTATATGTGTGTGTATGTGTGTATATGCGT GTGTATATGTGTGTGTAT		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr10	TogoVar
UEVLD_chr11_18524609_18593734	18560090	T T	TACACACA others(41): Show TACACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0058 a0001c0002t0003g0058	1	400	0.0025	48	c.613 others(65): Show c.613-1808_613-1761dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT		UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11						chr11	TogoVar
UEVLD_chr11_18524609_18593734	18560114	C C	CACACACA others(41): Show CACACACACACACACACCAGCCTGGGCAACATGGCAAAACCCCGTCTCT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0376 a0001c0003t0004g0376	1	400	0.0025	48	c.613 others(65): Show c.613-1785_613-1784insAGAGACGGGGTTTTGCCATGTTGCCCAG GCTGGTGTGTGTGTGTGTGT		UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11						chr11	TogoVar

Search by Variant

Search

Search Results