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
UPB1_chr22_24490332_24533390	24524258	CCCCTTGT others(37): Show CCCCTTGTGCTCCCAAGCCTTAGTACTCCCAGTTGTAAAATACGG	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0297	1	352	0.0028	-44	c.107 others(61): Show c.1071+486_1071+529delCCCTTGTGCTCCCAAGCCTTAGTACTCC CAGTTGTAAAATACGG	UPB1	ENSG00000100024.15	transcript	ENST00000326010.10	protein_coding	9/9			chr22	TogoVar
UQCRH_chr1_46298698_46321776	46305468	TGGGAGGC others(37): Show TGGGAGGCCGAGGCGGGTGGATCGGGAGGCCGAGGCGGGTGGATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG01168.hp1 others(7): Show HG00099.hp1 HG01099.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01515.hp2 HG01943.hp1 HG03704.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0132	10	434	0.0230	-44	c.54+ others(59): Show c.54+1671_54+1714delGGGAGGCCGAGGCGGGTGGATCGGGAGGCC GAGGCGGGTGGATC	UQCRH	ENSG00000173660.12	transcript	ENST00000311672.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
USH2A_chr1_215617891_216428448	216377779	AAAAGAAA others(37): Show AAAAGAAAGAAAGAGAAGGAAAGAAATAAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp2 HG02922.hp1 others(3): Show HG02572.hp1 HG02896.hp2 HG02922.hp1 HG03130.hp2 HG03453.hp2 NA20805.hp2	a0028 a0029 a0034 others(3): Show a0028 a0029 a0034 a0050 a0058 a0070	a0028c0022 a0029c0035 a0034c0031 others(3): Show a0028c0022 a0029c0035 a0034c0031 a0050c0039 a0058c0011 a0070c0026	a0028c0022t0001 a0029c0035t0001 a0034c0031t0002 others(3): Show a0028c0022t0001 a0029c0035t0001 a0034c0031t0002 a0050c0039t0002 a0058c0011t0001 a0070c0026t0001	a0028c0022t0001g0002 a0029c0035t0001g0025 a0034c0031t0002g0029 others(3): Show a0028c0022t0001g0002 a0029c0035t0001g0025 a0034c0031t0002g0029 a0050c0039t0002g0031 a0058c0011t0001g0046 a0070c0026t0001g0038	6	74	0.0811	-44	c.652 others(63): Show c.652-12738_652-12695delCTTTCTTTCTTTCTTTTTATTTCTTT CCTTCTCTTTCTTTCTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	3/71			chr1	TogoVar
USP36_chr17_78790652_78845814	78845726	TCGCGCCA others(37): Show TCGCGCCACCGCACTCCAGCCTTGGTGACAGAGCGAGACTCTGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0213 a0002c0002t0002g0213	1	386	0.0026	-44	c.-52 others(55): Show c.-5208_-5165delGACAGAGTCTCGCTCTGTCACCAAGGCTGGAGTG CGGTGGCGCG	USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding		4913		chr17	TogoVar
USP3_chr15_63499593_63599633	63547722	TAGAGAGA others(37): Show TAGAGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01168.hp2 others(9): Show HG00099.hp2 HG00738.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG02293.hp2 HG03490.hp1 HG03654.hp1 HG03710.hp2 HG04204.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0004 a0001c0001t0024	a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 others(9): Show a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0024g0046 a0001c0001t0024g0051	12	234	0.0513	-44	c.285 others(61): Show c.285-5970_285-5927delGGAGGGAGGGAGGGAGGGAGAGAGAGAG AGAGAGAGAGAGAGAG	USP3	ENSG00000140455.17	transcript	ENST00000380324.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP40_chr2_233470526_233571782	233494915	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATTTAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02145.hp2 others(13): Show HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp2	a0006 a0007 a0006 a0007	a0006c0006 a0007c0007 a0006c0006 a0007c0007	a0006c0006t0004 a0007c0007t0004 a0006c0006t0004 a0007c0007t0004	a0006c0006t0004g0026 a0006c0006t0004g0027 a0006c0006t0004g0028 others(13): Show a0006c0006t0004g0026 a0006c0006t0004g0027 a0006c0006t0004g0028 a0006c0006t0004g0030 a0006c0006t0004g0031 a0006c0006t0004g0033 a0006c0006t0004g0038 a0006c0006t0004g0039 a0006c0006t0004g0041 a0007c0007t0004g0029 a0007c0007t0004g0032 a0007c0007t0004g0034 a0007c0007t0004g0035 a0007c0007t0004g0036 a0007c0007t0004g0037 a0007c0007t0004g0040	16	324	0.0494	-44	c.279 others(63): Show c.2791-1408_2791-1365delATAAATATATATATATATATATATAT ATATATATATATATATAT	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding	24/31			chr2	TogoVar
UST_chr6_148742030_149081990	149042993	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0149 a0001c0003t0002g0149	1	210	0.0048	-44	c.937 others(63): Show c.937+21514_937+21557delCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCT	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VAV3_chr1_107566161_107970180	107890728	TCTTTACC others(37): Show TCTTTACCCCCAACTCTAGTAAATACCTTAATTTCTGTGCTCTGC	T T	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0020 a0003c0004t0011g0020	1	210	0.0048	-44	c.205 others(63): Show c.205-15755_205-15712delGCAGAGCACAGAAATTAAGGTATTTA CTAGAGTTGGGGGTAAAG	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	1/26			chr1	TogoVar
VENTX_chr10_133232855_133246928	133242485	GCCTTCCT others(37): Show GCCTTCCTCACATCCCCACAGCCTGTTTCCGCTCTCCCCTGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	428	0.0047	-44	c.21 others(55): Show c.2180_*2223delCCTTCCTCACATCCCCACAGCCTGTTTCCGCTCT CCCCTGGGGA	VENTX	ENSG00000151650.8	transcript	ENST00000325980.10	protein_coding		558		chr10	TogoVar
VGLL4_chr3_11551069_11648915	11573272	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01070.hp1 HG01071.hp2 others(11): Show HG00423.hp1 HG01070.hp1 HG01071.hp2 HG01346.hp1 HG02040.hp2 HG02129.hp2 HG02723.hp1 HG02735.hp2 HG03579.hp2 HG06807.hp1 NA18963.hp1 NA18971.hp2 NA18983.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0018 a0001c0001t0030 a0001c0002t0002	a0001c0001t0001g0012 a0001c0001t0001g0135 a0001c0001t0002g0275 others(11): Show a0001c0001t0001g0012 a0001c0001t0001g0135 a0001c0001t0002g0275 a0001c0001t0002g0303 a0001c0001t0002g0309 a0001c0001t0002g0323 a0001c0001t0002g0354 a0001c0001t0002g0371 a0001c0001t0012g0119 a0001c0001t0018g0314 a0001c0001t0030g0317 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216	14	388	0.0361	-44	c.273 others(61): Show c.273-8297_273-8254delCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573308	GAAGGAAG others(37): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp1 HG02056.hp1 others(1): Show HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0002g0324 a0001c0001t0002g0337 others(1): Show a0001c0001t0001g0033 a0001c0001t0002g0324 a0001c0001t0002g0337 a0001c0001t0002g0355	4	388	0.0103	-44	c.273 others(61): Show c.273-8333_273-8290delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCCTTCCTT	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573312	GAAGGAAG others(37): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	388	0.0026	-44	c.273 others(61): Show c.273-8337_273-8294delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTCCTT	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573316	GAAGAAAG others(37): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0366 a0001c0001t0002g0366	1	388	0.0026	-44	c.273 others(61): Show c.273-8341_273-8298delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VIL1_chr2_218414123_218458295	218415931	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0112 a0001c0005t0002g0112	1	336	0.0030	-44	c.-32 others(55): Show c.-3248_-3205delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA TATATATATA	VIL1	ENSG00000127831.11	transcript	ENST00000248444.10	protein_coding		3191		chr2	TogoVar
VIPR2_chr7_159023175_159149867	159060094	ACCTCACC others(37): Show ACCTCACCTCACCTAATCACCACCTTCACCTCACCTAACCATCAC	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0220 a0001c0002t0024g0220	1	336	0.0030	-44	c.358 others(61): Show c.358-1560_358-1517delGTGATGGTTAGGTGAGGTGAAGGTGGTG ATTAGGTGAGGTGAGG	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159087747	TGATAGTG others(37): Show TGATAGTGAGATACGGCTTCCCCAACAAACAATACCCAGGACTTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG02818.hp1 others(4): Show HG02055.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03209.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0015 a0001c0016 a0001c0008 a0001c0015 a0001c0016	a0001c0008t0016 a0001c0008t0018 a0001c0015t0011 others(2): Show a0001c0008t0016 a0001c0008t0018 a0001c0015t0011 a0001c0015t0016 a0001c0016t0049	a0001c0008t0016g0322 a0001c0008t0016g0323 a0001c0008t0018g0179 others(4): Show a0001c0008t0016g0322 a0001c0008t0016g0323 a0001c0008t0018g0179 a0001c0008t0018g0180 a0001c0015t0011g0026 a0001c0015t0016g0005 a0001c0016t0049g0120	7	336	0.0208	-44	c.357 others(63): Show c.357+15966_357+16009delCAAGTCCTGGGTATTGTTTGTTGGGG AAGCCGTATCTCACTATC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159087805	GGCTTCCC others(37): Show GGCTTCCCCAACAAACAATACCCAGGACTCAGATAGTGAGATACA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02135.hp2 HG02155.hp2 others(3): Show HG00609.hp2 HG02135.hp2 HG02155.hp2 NA18950.hp1 NA18953.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0048	a0001c0001t0001g0317 a0001c0002t0002g0024 a0001c0002t0002g0320 others(3): Show a0001c0001t0001g0317 a0001c0002t0002g0024 a0001c0002t0002g0320 a0001c0002t0007g0042 a0001c0002t0007g0318 a0001c0002t0048g0209	6	336	0.0179	-44	c.357 others(63): Show c.357+15908_357+15951delTGTATCTCACTATCTGAGTCCTGGGT ATTGTTTGTTGGGGAAGC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159112678	GCTCACGG others(37): Show GCTCACGGCGCCTACCTGGGACCGACCCTGACTGTGAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	336	0.0030	-44	c.152 others(61): Show c.152-2803_152-2760delTCTCCTCCTCACAGTCAGGGTCGGTCCC AGGTAGGCGCCGTGAG	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VPS41_chr7_38717974_38914191	38720556	GTGTGTGT others(37): Show GTGTGTGTATATATATATATATATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0051 a0004c0012t0051	a0004c0012t0051g0218 a0004c0012t0051g0218	1	278	0.0036	-44	c.56 others(55): Show c.5646_*5689delTATATATATATATATATATATATATATATATATA TATACACACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2417		chr7	TogoVar
VWA8_chr13_41561835_41966109	41758369	CATATATA others(37): Show CATATATATATATATATATATATACGCTAGTATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0002 a0005c0005t0001g0002	1	250	0.0040	-44	c.242 others(63): Show c.2426+2715_2426+2758delATATATATATATATACTAGCGTATAT ATATATATATATATATAT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	21/44			chr13	TogoVar
WDFY2_chr13_51579462_51772709	51764218	TGCAAGGT others(37): Show TGCAAGGTGTCTGAGGCCCATTCTCAGGCTGGGCAGAGGTCACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0247 a0001c0001t0036g0247	1	278	0.0036	-44	c.44 others(55): Show c.4450_*4493delGCAAGGTGTCTGAGGCCCATTCTCAGGCTGGGCA GAGGTCACAC	WDFY2	ENSG00000139668.9	transcript	ENST00000298125.7	protein_coding	12/12	4450		chr13	TogoVar
WDFY4_chr10_48679873_48987956	48787867	CTTTCTTC others(37): Show CTTTCTTCTTTCTTTCTTCTTCTTCTCCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03209.hp1 HG01123.hp2 HG03209.hp1	a0003 a0045 a0003 a0045	a0003c0004 a0045c0046 a0003c0004 a0045c0046	a0003c0004t0001 a0045c0046t0001 a0003c0004t0001 a0045c0046t0001	a0003c0004t0001g0028 a0045c0046t0001g0016 a0003c0004t0001g0028 a0045c0046t0001g0016	2	202	0.0099	-44	c.380 others(61): Show c.3809-662_3809-619delTTTCTTCTTTCTTTCTTCTTCTTCTCCT TCTTCTTCTTCTTCTT	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	20/61			chr10	TogoVar
WDR13_chrX_48592492_48613869	48611313	TTCTCTTT others(37): Show TTCTCTTTTCTTTTCTTTTTTTTTTTTTTTCAGACGGAGTCTCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	310	0.0032	-44	c.62 others(55): Show c.6282_*6325delTCTCTTTTCTTTTCTTTTTTTTTTTTTTTCAGAC GGAGTCTCGC	WDR13	ENSG00000101940.18	transcript	ENST00000376729.10	protein_coding		2445		chrX	TogoVar
WDR33_chr2_127696027_127816171	127750701	TATATATA others(37): Show TATATATATATATGTATGTATGCATACATATATATGTATGCATAC	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0141 a0001c0001t0013g0141	1	318	0.0031	-44	c.724 others(63): Show c.724+12317_724+12360delGTATGCATACATATATATGTATGCAT ACATACATATATATATAT	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	7/21			chr2	TogoVar
WDSUB1_chr2_159230798_159291703	159261866	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0041 a0004c0005t0002g0041	1	252	0.0040	-44	c.771 others(61): Show c.771-2067_771-2024delAAAAAAAAAAAAAATATATATATATATA TATATATATATATATA	WDSUB1	ENSG00000196151.11	transcript	ENST00000359774.9	protein_coding	5/10			chr2	TogoVar
WEE2_chr7_141703353_141736271	141731764	TCTCTCTC others(37): Show TCTCTCTCGCTCTCTCTCTCGCTCTCTCTCTCGCTCTCTCTCTCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	393	0.0025	-44	c.14 others(55): Show c.1445_*1488delCTCTCTCGCTCTCTCTCTCGCTCTCTCTCTCGCT CTCTCTCTCG	WEE2	ENSG00000214102.7	transcript	ENST00000397541.6	protein_coding		494		chr7	TogoVar
WFS1_chr4_6264850_6308265	6275508	AGCTTGAC others(37): Show AGCTTGACCATGCATGGTTTGCACCTGGGGGATGCACCCGGGGGT	A A	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0246 a0002c0005t0005g0246	1	390	0.0026	-44	c.-5- others(59): Show c.-5-1906_-5-1863delCCGGGGGTGCTTGACCATGCATGGTTTGCA CCTGGGGGATGCAC	WFS1	ENSG00000109501.15	transcript	ENST00000226760.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
WIPI1_chr17_68416281_68462496	68426980	AGCACTCC others(37): Show AGCACTCCACCCCCAGGTAACAGTGAAGGGGGAAGGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0343 a0002c0002t0001g0343	1	420	0.0024	-44	c.119 others(61): Show c.1192+111_1192+154delCCTCCCTCCCCTTCCCCCTTCACTGTTA CCTGGGGGTGGAGTGC	WIPI1	ENSG00000070540.13	transcript	ENST00000262139.10	protein_coding	11/12			chr17	TogoVar
WRAP53_chr17_7683477_7708502	7699440	TTATATAT others(37): Show TTATATATATATATATATTTATATATATATATATATTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01981.hp2 NA19070.hp2 HG01257.hp1 HG01981.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0035 a0002c0002t0001g0092 a0002c0003t0001g0169 a0002c0002t0001g0035 a0002c0002t0001g0092 a0002c0003t0001g0169	3	384	0.0078	-44	c.643 others(61): Show c.643-1265_643-1222delTTATATATATATATATATATATATATTT ATATATATATATATAT	WRAP53	ENSG00000141499.18	transcript	ENST00000396463.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
WWOX_chr16_78094654_79217667	78098432	TCCTTCCT others(37): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00609.hp2 others(42): Show HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01952.hp2 HG02015.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02683.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18957.hp2 NA18982.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19060.hp2 NA19066.hp1 NA19088.hp1 NA20129.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0018	a0001c0001 a0002c0002 a0003c0004 others(6): Show a0001c0001 a0002c0002 a0003c0004 a0004c0006 a0005c0005 a0006c0003 a0007c0008 a0009c0010 a0018c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0002c0002t0001 a0002c0002t0005 a0002c0002t0007 a0003c0004t0001 a0004c0006t0001 a0004c0006t0002 a0005c0005t0001 a0006c0003t0001 a0007c0008t0004 a0007c0008t0020 a0007c0008t0026 a0009c0010t0001 a0018c0020t0002	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0021 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0002g0032 a0001c0001t0002g0044 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0004g0053 a0001c0001t0005g0027 a0001c0001t0005g0030 a0001c0001t0005g0034 a0001c0001t0005g0050 a0001c0001t0010g0017 a0001c0001t0010g0031 a0001c0001t0018g0037 a0001c0001t0023g0028 a0001c0001t0025g0041 a0002c0002t0001g0018 a0002c0002t0001g0039 a0002c0002t0001g0046 a0002c0002t0001g0138 a0002c0002t0005g0016 a0002c0002t0007g0047 a0003c0004t0001g0036 a0004c0006t0001g0019 a0004c0006t0002g0038 a0005c0005t0001g0059 a0006c0003t0001g0035 a0007c0008t0004g0057 a0007c0008t0020g0058 a0007c0008t0026g0040 a0009c0010t0001g0045 a0018c0020t0002g0043	45	142	0.3169	-44	c.-13 others(55): Show c.-1346_-1303delCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTCCCTC	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding		1221		chr16	TogoVar
WWOX_chr16_78094654_79217667	78321306	ATATATAT others(37): Show ATATATATGCGTATATATATACGTATATATGCGTATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03486.hp2 HG02559.hp1 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0004 a0001c0007 a0003c0004	a0001c0007t0009 a0003c0004t0001 a0001c0007t0009 a0003c0004t0001	a0001c0007t0009g0110 a0003c0004t0001g0097 a0001c0007t0009g0110 a0003c0004t0001g0097	2	142	0.0141	-44	c.517 others(63): Show c.517-65502_517-65459delGCGTATATATATACGTATATATGCGT ATATATATACGTATATAT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWOX_chr16_78094654_79217667	78574999	TTATATAT others(37): Show TTATATATATATATATATATATAAATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02572.hp1 HG02723.hp1 others(2): Show HG00438.hp2 HG02572.hp1 HG02723.hp1 HG03669.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0005c0005t0002 a0005c0005t0009	a0001c0001t0002g0032 a0001c0001t0003g0073 a0001c0001t0004g0004 others(2): Show a0001c0001t0002g0032 a0001c0001t0003g0073 a0001c0001t0004g0004 a0005c0005t0002g0009 a0005c0005t0009g0014	5	142	0.0352	-44	c.105 others(67): Show c.1056+142270_1056+142313delAATATATATATATATATATATA TATATATATATATATATATATA	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWOX_chr16_78094654_79217667	78604821	CTTCCTCC others(37): Show CTTCCTCCCTCCCTCCTTCCCCCCTCCCTCCCTCCTTCCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18747.hp1 HG02922.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0117 a0001c0001t0013g0102 a0001c0001t0005g0117 a0001c0001t0013g0102	2	142	0.0141	-44	c.105 others(67): Show c.1056+172070_1056+172113delTTCCTCCCTCCCTCCTTCCCCC CTCCCTCCCTCCTTCCCTTCCT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8			chr16	TogoVar
WWOX_chr16_78094654_79217667	78619138	AAAAAATA others(37): Show AAAAAATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0130 a0004c0006t0001g0130	1	142	0.0070	-44	c.105 others(67): Show c.1056+186388_1056+186431delAAAATATATATATATATATATA TATATATATATATATATATATA	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWOX_chr16_78094654_79217667	78619142	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0007 a0002c0022t0007	a0002c0022t0007g0109 a0002c0022t0007g0109	1	142	0.0070	-44	c.105 others(67): Show c.1056+186419_1056+186462delATATATATATATATATATATAT ATATATATATATATATATATAT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912976	ATATATAT others(37): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	314	0.0032	-44	c.100 others(63): Show c.1004+4128_1004+4171delATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912978	ATATATAT others(37): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18975.hp1 HG02976.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0174 a0001c0004t0001g0183 a0001c0001t0001g0174 a0001c0004t0001g0183	2	314	0.0064	-44	c.100 others(63): Show c.1004+4130_1004+4173delATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912980	ATATATAT others(37): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0186 a0001c0004t0001g0186	1	314	0.0032	-44	c.100 others(63): Show c.1004+4132_1004+4175delATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912982	ATATATAT others(37): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18948.hp2 NA20752.hp1 HG02132.hp2 NA18948.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0003 a0001c0007t0002 a0001c0001t0001 a0001c0002t0003 a0001c0007t0002	a0001c0001t0001g0050 a0001c0002t0003g0309 a0001c0007t0002g0179 a0001c0001t0001g0050 a0001c0002t0003g0309 a0001c0007t0002g0179	3	314	0.0096	-44	c.100 others(63): Show c.1004+4134_1004+4177delATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912984	ATATATAT others(37): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA21309.hp1 NA18983.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0018 a0001c0002t0001g0072 a0001c0001t0001g0018 a0001c0002t0001g0072	2	314	0.0064	-44	c.100 others(63): Show c.1004+4136_1004+4179delATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912986	ATATATAT others(37): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG02040.hp1 others(8): Show HG00642.hp1 HG01081.hp1 HG02040.hp1 HG02074.hp2 HG02257.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03710.hp1 NA18971.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0024 a0001c0001 a0001c0012 a0001c0024	a0001c0001t0001 a0001c0001t0019 a0001c0012t0009 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0012t0009 a0001c0024t0001	a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0058 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0019g0021 a0001c0012t0009g0289 a0001c0024t0001g0007	11	314	0.0350	-44	c.100 others(63): Show c.1004+4138_1004+4181delATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912988	ATATATAT others(37): Show ATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	314	0.0032	-44	c.100 others(63): Show c.1004+4140_1004+4183delATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
XDH_chr2_31329321_31419742	31378079	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp2 HG02622.hp1 HG02922.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0009 a0004c0007t0004 a0004c0007t0009	a0004c0007t0004g0016 a0004c0007t0009g0011 a0004c0007t0004g0016 a0004c0007t0009g0011	2	370	0.0054	-44	c.124 others(61): Show c.1243-886_1243-843delCCTTCCTTCCTTCCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	XDH	ENSG00000158125.10	transcript	ENST00000379416.4	protein_coding	13/35			chr2	TogoVar
XDH_chr2_31329321_31419742	31378083	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03491.hp1 HG03492.hp1 others(3): Show HG03225.hp2 HG03491.hp1 HG03492.hp1 NA18961.hp1 NA18989.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0002 a0001c0024t0002 a0001c0001t0002 a0001c0024t0002	a0001c0001t0002g0002 a0001c0001t0002g0088 a0001c0001t0002g0163 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0088 a0001c0001t0002g0163 a0001c0024t0002g0005	6	370	0.0162	-44	c.124 others(61): Show c.1243-890_1243-847delCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTTTCTTTCTTTCTT	XDH	ENSG00000158125.10	transcript	ENST00000379416.4	protein_coding	13/35			chr2	TogoVar
XDH_chr2_31329321_31419742	31378087	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02717.hp2 HG03704.hp2 others(2): Show HG00673.hp1 HG02717.hp2 HG03704.hp2 HG06807.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0117 a0001c0001t0002g0007 a0001c0001t0002g0101 others(1): Show a0001c0001t0001g0117 a0001c0001t0002g0007 a0001c0001t0002g0101 a0001c0001t0003g0116	5	370	0.0135	-44	c.124 others(61): Show c.1243-894_1243-851delCCTTCCTTCCTTCCTTCCTTCCTTTCTT TCTTTCTTTCTTTCTT	XDH	ENSG00000158125.10	transcript	ENST00000379416.4	protein_coding	13/35			chr2	TogoVar
XPNPEP2_chrX_129733979_129774536	129751563	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	310	0.0032	-44	c.740 others(59): Show c.740-178_740-135delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGGAAGGAAGGAAG	XPNPEP2	ENSG00000122121.12	transcript	ENST00000371106.4	protein_coding	8/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
XRN1_chr3_142301610_142453037	142328703	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG02897.hp1 others(3): Show HG01891.hp1 HG02895.hp2 HG02897.hp1 HG03579.hp1 NA18983.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0009g0001 others(2): Show a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0009g0001 a0001c0001t0009g0114 a0001c0001t0009g0115	6	324	0.0185	-44	c.440 others(61): Show c.4404+687_4404+730delTATATATATATATATATATATATATATA TATATATATATATATA	XRN1	ENSG00000114127.11	transcript	ENST00000392981.7	protein_coding	37/40			chr3	TogoVar
XXYLT1_chr3_195063284_195276159	195143799	TAGATAGA others(37): Show TAGATAGATATATATAGATATAGATATATATAGATATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01975.hp2 HG02486.hp2 HG01884.hp2 HG01975.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0040 a0001c0001t0002g0038 a0001c0001t0011g0172 a0001c0001t0001g0040 a0001c0001t0002g0038 a0001c0001t0011g0172	3	198	0.0152	-44	c.785 others(63): Show c.785+12606_785+12649delCTATATCTATATCTATATATATCTAT ATCTATATATATCTATCT	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
YBEY_chr21_46281342_46302751	46302707	TCCGTCTG others(37): Show TCCGTCTGCACACGGTGCGGGTCCCCGGGGCGCGCCCTGAGCCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01106.hp1 HG01192.hp2 others(1): Show HG01069.hp2 HG01106.hp1 HG01192.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 others(1): Show a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144	4	404	0.0099	-44	c.50 others(55): Show c.5074_*5117delCCGTCTGCACACGGTGCGGGTCCCCGGGGCGCGC CCTGAGCCCG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding		4957		chr21	TogoVar
YME1L1_chr10_27105111_27159384	27106795	CATATATA others(37): Show CATATATATAATGAATATATATATATAATCATATATATAATGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA19088.hp1 NA18997.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0223 a0001c0001t0001g0025 a0001c0001t0001g0223	2	388	0.0052	-44	c.51 others(55): Show c.5138_*5181delATTCATTATATATATGATTATATATATATATTCA TTATATATAT	YME1L1	ENSG00000136758.20	transcript	ENST00000376016.8	protein_coding		3315		chr10	TogoVar

Search by Variant

Search

Search Results