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
ATG3_chr3_112527510_112566962	112556290	GCCTCTGC others(30): Show GCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCC	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	374	0.0027	-37	c.114 others(54): Show c.114+2049_114+2085delGGCTCCTCACTTCCCAGTAGGGGCGGCC AGGCAGAGG	ATG3	ENSG00000144848.11	transcript	ENST00000283290.10	protein_coding	2/11			chr3	TogoVar
ATG7_chr3_11267397_11562665	11268543	CTTCTAGG others(30): Show CTTCTAGGGAGGCTGAGGCAGGAGAATTGCTCACCATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0200 a0001c0002t0024g0200	1	290	0.0034	-37	c.-42 others(48): Show c.-4252_-4216delTTCTAGGGAGGCTGAGGCAGGAGAATTGCTCACC ATA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding		3853		chr3	TogoVar
ATP1A3_chr19_41961582_41999230	41990558	ATTCTCTT others(30): Show ATTCTCTTTCTCTCTCTTACTACCTCATCCTGGAATTT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	280	0.0036	-37	c.7-2 others(50): Show c.7-2033_7-1997delAAATTCCAGGATGAGGTAGTAAGAGAGAGAAA GAGAA	ATP1A3	ENSG00000105409.19	transcript	ENST00000648268.1	protein_coding	1/22			chr19	TogoVar
ATP5ME_chr4_667436_679276	668877	GCTACCCC others(30): Show GCTACCCCATGCTATTCCCCTACCCCATGCTGCTCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02630.hp1 NA19240.hp1 HG02572.hp1 HG02630.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	392	0.0077	-37	c.35 others(48): Show c.3586_*3622delTGGGAGCAGCATGGGGTAGGGGAATAGCATGGGG TAG	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3558		chr4	TogoVar
ATP5ME_chr4_667436_679276	668886	TGCTATTC others(30): Show TGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00741.hp2 others(55): Show HG00099.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0025	58	385	0.1506	-37	c.35 others(48): Show c.3577_*3613delGTGGGGTAGTGGGAGCAGCATGGGGTAGGGGAAT AGC	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3549		chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25531385	GATATATA others(30): Show GATATATATATGATTATATATATGATTATATATATGAT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02647.hp2 HG03195.hp1 others(3): Show HG01175.hp2 HG02647.hp2 HG03195.hp1 HG03486.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0014 others(1): Show a0001c0002 a0001c0005 a0001c0014 a0001c0019	a0001c0002t0001 a0001c0002t0006 a0001c0002t0070 others(3): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0070 a0001c0005t0044 a0001c0014t0034 a0001c0019t0007	a0001c0002t0001g0069 a0001c0002t0006g0119 a0001c0002t0070g0068 others(3): Show a0001c0002t0001g0069 a0001c0002t0006g0119 a0001c0002t0070g0068 a0001c0005t0044g0018 a0001c0014t0034g0064 a0001c0019t0007g0028	6	103	0.0583	-37	c.420 others(52): Show c.420+734_420+770delATGATTATATATATGATTATATATATGATA TATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B4_chr15_49853238_50124233	50086411	AAAATAAT others(30): Show AAAATAATATAGAGATCTATAATTATATATAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02293.hp2 HG02922.hp1 others(1): Show HG02132.hp1 HG02293.hp2 HG02922.hp1 HG02922.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0011c0012	a0001c0001t0001 a0002c0002t0002 a0003c0003t0023 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0023 a0011c0012t0002	a0001c0001t0001g0246 a0002c0002t0002g0037 a0003c0003t0023g0228 others(1): Show a0001c0001t0001g0246 a0002c0002t0002g0037 a0003c0003t0023g0228 a0011c0012t0002g0050	4	238	0.0168	-37	c.29- others(54): Show c.29-12263_29-12227delATTTTATTATATATAATTATAGATCTCT ATATTATTT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79379096	CCTGAGTT others(30): Show CCTGAGTTTCCGGACGGGCCCGGCCCTGCGAGGGCGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp1 others(5): Show HG00280.hp2 HG00323.hp2 HG00733.hp1 HG00735.hp2 HG01123.hp2 HG01517.hp2 HG02300.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 others(5): Show a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0172	8	296	0.0270	-37	c.17 others(48): Show c.1714_*1750delCTGAGTTTCCGGACGGGCCCGGCCCTGCGAGGGC GCG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding		814		chr18	TogoVar
ATR_chr3_142444235_142583733	142578711	GCTGCGAG others(30): Show GCTGCGAGGCACTAGTCAACCACGCCAACGCGGGTTCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02630.hp1 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0005 a0001c0004t0002g0006 a0001c0004t0002g0005 a0001c0004t0002g0006	2	320	0.0063	-37	c.-44 others(43): Show c.-44_-8delGGAACCCGCGTTGGCGTGGTTGACTAGTGCCTCGCAG	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	1/47	8		chr3	TogoVar
ATXN7L1_chr7_105599772_105881599	105662050	CCTTCCTT others(30): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00642.hp2 others(90): Show HG00323.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG03098.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18948.hp2 NA18954.hp1 NA18957.hp2 NA18962.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18989.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0002c0002 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0035 a0001c0001t0037 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0053 a0001c0001t0055 a0001c0004t0010 a0001c0005t0001 a0001c0006t0002 a0001c0007t0033 a0001c0008t0005 a0001c0012t0001 a0002c0002t0017 a0005c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(90): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0238 a0001c0001t0001g0251 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0001t0002g0059 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0145 a0001c0001t0002g0162 a0001c0001t0002g0173 a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0053 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0172 a0001c0001t0003g0187 a0001c0001t0003g0231 a0001c0001t0004g0039 a0001c0001t0004g0125 a0001c0001t0004g0128 a0001c0001t0004g0246 a0001c0001t0005g0038 a0001c0001t0005g0124 a0001c0001t0005g0233 a0001c0001t0005g0237 a0001c0001t0006g0158 a0001c0001t0006g0248 a0001c0001t0007g0022 a0001c0001t0007g0034 a0001c0001t0007g0117 a0001c0001t0008g0094 a0001c0001t0008g0230 a0001c0001t0009g0020 a0001c0001t0009g0054 a0001c0001t0009g0146 a0001c0001t0010g0032 a0001c0001t0010g0091 a0001c0001t0010g0093 a0001c0001t0010g0095 a0001c0001t0010g0111 a0001c0001t0010g0228 a0001c0001t0011g0099 a0001c0001t0011g0143 a0001c0001t0011g0151 a0001c0001t0012g0052 a0001c0001t0013g0019 a0001c0001t0013g0060 a0001c0001t0013g0126 a0001c0001t0013g0140 a0001c0001t0014g0136 a0001c0001t0018g0120 a0001c0001t0020g0077 a0001c0001t0022g0234 a0001c0001t0024g0037 a0001c0001t0025g0072 a0001c0001t0025g0215 a0001c0001t0027g0171 a0001c0001t0028g0007 a0001c0001t0028g0041 a0001c0001t0035g0207 a0001c0001t0037g0195 a0001c0001t0043g0132 a0001c0001t0044g0148 a0001c0001t0045g0154 a0001c0001t0053g0018 a0001c0001t0055g0098 a0001c0004t0010g0153 a0001c0005t0001g0209 a0001c0006t0002g0112 a0001c0007t0033g0157 a0001c0008t0005g0164 a0001c0012t0001g0047 a0002c0002t0017g0149 a0005c0011t0001g0092	93	241	0.3859	-37	c.578 others(54): Show c.578+2979_578+3015delAGAAAGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
AUTS2_chr7_69593475_70798506	70628318	ATATATAT others(30): Show ATATATATATACATATATATATAGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	76	0.0132	-37	c.691 others(56): Show c.691-70240_691-70204delCATATATATATAGTATATATATATAT GTATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678879	GGGTGTGT others(30): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	440	0.0023	-37	c.287 others(52): Show c.287+703_287+739delACACACACACACACACACACACACACACAC ACACACC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	83039407	CCCGCCCC others(30): Show CCCGCCCCTCTTCTAGACACACTGCTGGGCGCCCGCCG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	266	0.0038	-37	c.233 others(54): Show c.233-4345_233-4309delCGGCGGGCGCCCAGCAGTGTGTCTAGAA GAGGGGCGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	512222	CCTTCTTC others(30): Show CCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG00741.hp2 others(82): Show HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03831.hp2 HG03834.hp1 NA18948.hp2 NA18953.hp1 NA18954.hp1 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0013 a0014 a0018 a0026	a0001c0001 a0001c0002 a0001c0010 others(15): Show a0001c0001 a0001c0002 a0001c0010 a0001c0039 a0001c0048 a0002c0003 a0003c0004 a0004c0005 a0005c0017 a0006c0007 a0006c0020 a0006c0045 a0007c0008 a0010c0011 a0013c0019 a0014c0021 a0018c0038 a0026c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0045 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0002t0026 a0001c0002t0089 a0001c0010t0002 a0001c0039t0002 a0001c0048t0044 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0018 a0003c0004t0008 a0003c0004t0029 a0003c0004t0038 a0003c0004t0048 a0003c0004t0064 a0003c0004t0066 a0004c0005t0003 a0004c0005t0004 a0004c0005t0017 a0004c0005t0051 a0005c0017t0002 a0006c0007t0002 a0006c0007t0049 a0006c0007t0065 a0006c0020t0002 a0006c0045t0003 a0007c0008t0002 a0007c0008t0017 a0007c0008t0068 a0010c0011t0005 a0010c0011t0018 a0013c0019t0002 a0014c0021t0001 a0014c0021t0002 a0018c0038t0031 a0026c0031t0004	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0164 others(82): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0164 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0369 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0393 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0126 a0001c0001t0004g0176 a0001c0001t0004g0214 a0001c0001t0004g0236 a0001c0001t0007g0017 a0001c0001t0007g0025 a0001c0001t0007g0030 a0001c0001t0007g0083 a0001c0001t0007g0120 a0001c0001t0007g0289 a0001c0001t0008g0002 a0001c0001t0008g0011 a0001c0001t0009g0026 a0001c0001t0009g0028 a0001c0001t0011g0218 a0001c0001t0012g0260 a0001c0001t0012g0353 a0001c0001t0014g0255 a0001c0001t0023g0168 a0001c0001t0023g0253 a0001c0001t0024g0055 a0001c0001t0025g0022 a0001c0001t0026g0273 a0001c0001t0028g0208 a0001c0001t0031g0314 a0001c0001t0045g0359 a0001c0001t0052g0240 a0001c0001t0054g0019 a0001c0001t0055g0181 a0001c0001t0057g0252 a0001c0001t0059g0109 a0001c0001t0061g0166 a0001c0002t0026g0111 a0001c0002t0089g0032 a0001c0010t0002g0018 a0001c0010t0002g0098 a0001c0010t0002g0256 a0001c0039t0002g0319 a0001c0048t0044g0394 a0002c0003t0001g0335 a0002c0003t0002g0103 a0002c0003t0004g0250 a0002c0003t0018g0251 a0003c0004t0008g0310 a0003c0004t0029g0182 a0003c0004t0038g0148 a0003c0004t0038g0284 a0003c0004t0048g0047 a0003c0004t0064g0286 a0003c0004t0066g0309 a0004c0005t0003g0122 a0004c0005t0003g0124 a0004c0005t0004g0281 a0004c0005t0017g0196 a0004c0005t0051g0123 a0005c0017t0002g0259 a0006c0007t0002g0180 a0006c0007t0049g0226 a0006c0007t0065g0206 a0006c0020t0002g0283 a0006c0045t0003g0392 a0007c0008t0002g0307 a0007c0008t0017g0147 a0007c0008t0068g0308 a0010c0011t0005g0169 a0010c0011t0018g0009 a0010c0011t0018g0165 a0013c0019t0002g0185 a0013c0019t0002g0186 a0014c0021t0001g0031 a0014c0021t0002g0254 a0018c0038t0031g0200 a0026c0031t0004g0066	85	392	0.2168	-37	c.170 others(56): Show c.170-22939_170-22903delTTCCACCTTCCACCTTCCACCTTCTT CCACCTTCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	512256	CCTTCTTC others(30): Show CCTTCTTCCACCTTCTTCCACCTTCCACCTTCCACCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG01516.hp1 others(12): Show HG01109.hp1 HG01255.hp1 HG01516.hp1 HG02258.hp1 HG02280.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02738.hp2 HG02922.hp1 HG04228.hp2 NA18982.hp1 NA19005.hp1 NA19056.hp2 NA19078.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0002 a0003c0004 others(4): Show a0001c0001 a0001c0002 a0003c0004 a0004c0005 a0005c0006 a0006c0023 a0009c0018	a0001c0001t0003 a0001c0001t0020 a0001c0001t0053 others(10): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0053 a0001c0001t0060 a0001c0001t0091 a0001c0002t0005 a0001c0002t0009 a0003c0004t0003 a0003c0004t0080 a0004c0005t0017 a0005c0006t0063 a0006c0023t0002 a0009c0018t0005	a0001c0001t0003g0135 a0001c0001t0020g0130 a0001c0001t0053g0077 others(12): Show a0001c0001t0003g0135 a0001c0001t0020g0130 a0001c0001t0053g0077 a0001c0001t0060g0080 a0001c0001t0091g0232 a0001c0002t0005g0075 a0001c0002t0005g0237 a0001c0002t0005g0320 a0001c0002t0009g0241 a0003c0004t0003g0134 a0003c0004t0080g0201 a0004c0005t0017g0184 a0005c0006t0063g0183 a0006c0023t0002g0230 a0009c0018t0005g0170	15	392	0.0383	-37	c.170 others(56): Show c.170-22905_170-22869delTTCCACCTTCTTCCACCTTCCACCTT CCACCTTCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALT4_chr3_119206742_119245878	119242956	GGCCCCTC others(30): Show GGCCCCTCTGCCCGGCAGCCCCGTCTGGGAAGTGAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02486.hp1 others(2): Show HG01884.hp1 HG02258.hp2 HG02486.hp1 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0001 a0002c0002t0008	a0002c0002t0001g0114 a0002c0002t0008g0027 a0002c0002t0008g0132 a0002c0002t0001g0114 a0002c0002t0008g0027 a0002c0002t0008g0132	5	434	0.0115	-37	c.-25 others(48): Show c.-2507_-2471delTCCTCACTTCCCAGACGGGGCTGCCGGGCAGAGG GGC	B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding		2079		chr3	TogoVar
B4GAT1_chr11_66340374_66352629	66351412	ATTTTTAT others(30): Show ATTTTTATCTTGAACGAGTGTTGGACTTTGTCACATGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02970.hp2 HG01891.hp1 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	410	0.0049	-37	c.-39 others(48): Show c.-3904_-3868delGCATGTGACAAAGTCCAACACTCGTTCAAGATAA AAA	B4GAT1	ENSG00000174684.7	transcript	ENST00000311181.5	protein_coding		3784		chr11	TogoVar
BAMBI_chr10_28672521_28687932	28675958	ATTGTTAA others(30): Show ATTGTTAACTTGTCAAGGTTCTAGTAGCCAGGAAGTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	434	0.0023	-37	c.-19 others(48): Show c.-1939_-1903delTTGTTAACTTGTCAAGGTTCTAGTAGCCAGGAAG TTC	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		1562		chr10	TogoVar
BAMBI_chr10_28672521_28687932	28686744	GTTATAAT others(30): Show GTTATAATAGAAAAATTAAATGCTCCAGATACCAACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02258.hp2 HG02451.hp1 others(3): Show HG01123.hp1 HG02258.hp2 HG02451.hp1 HG02723.hp2 HG02896.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0047 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0003g0050	6	434	0.0138	-37	c.43 others(48): Show c.4344_*4380delTTATAATAGAAAAATTAAATGCTCCAGATACCAA CAT	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		3813		chr10	TogoVar
BAZ2B_chr2_159313979_159621548	159325038	ATATATTA others(30): Show ATATATTATATATATATATATATTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18968.hp1 NA18969.hp2 others(1): Show HG00323.hp2 NA18968.hp1 NA18969.hp2 NA19000.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0002	a0002c0002t0001g0065 a0002c0002t0001g0125 a0002c0002t0001g0126 others(1): Show a0002c0002t0001g0065 a0002c0002t0001g0125 a0002c0002t0001g0126 a0003c0003t0002g0182	4	194	0.0206	-37	c.621 others(53): Show c.6210-121_6210-85delATATATATATATATAATATATATATATAT ATAATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BCL6_chr3_187716381_187750468	187725417	CCTCCGCT others(30): Show CCTCCGCTTGCCTGCCCACTCCTCCGCTCGCCTGCCCG	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0350 a0001c0002t0001g0350	1	402	0.0025	-37	c.183 others(52): Show c.1839+45_1839+81delCGGGCAGGCGAGCGGAGGAGTGGGCAGGCA AGCGGAG	BCL6	ENSG00000113916.18	transcript	ENST00000406870.7	protein_coding	8/9			chr3	TogoVar
BCL9_chr1_147536501_147631216	147541082	AGAAGAGA others(30): Show AGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01243.hp1 HG02523.hp1 others(3): Show HG00609.hp2 HG01243.hp1 HG02523.hp1 HG03834.hp2 NA18986.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0098 a0001c0001t0003g0177 a0001c0001t0004g0060 others(3): Show a0001c0001t0001g0098 a0001c0001t0003g0177 a0001c0001t0004g0060 a0001c0001t0004g0144 a0001c0001t0005g0129 a0001c0001t0011g0126	6	314	0.0191	-37	c.-10 others(48): Show c.-1069_-1033delGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGA GAG	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		418		chr1	TogoVar
BCR_chr22_23175509_23323037	23304840	CGCGGTGG others(30): Show CGCGGTGGCTTACGCCTGTAATCCCAGCACTTTAGGAG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0132 a0001c0018t0132	a0001c0018t0132g0268 a0001c0018t0132g0268	1	294	0.0034	-37	c.301 others(56): Show c.3013-4581_3013-4545delGGTGGCTTACGCCTGTAATCCCAGCA CTTTAGGAGGC	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BDP1_chr5_71450651_71572820	71551665	TTCACTTC others(30): Show TTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCC	T T	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	324	0.0031	-37	c.699 others(56): Show c.6996-1419_6996-1383delCGCCCCTCACTTCCCAGCAGGGGCGG CCGGGCAGAGG	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	34/38		INFO_REALIGN_3_PRIME	chr5	TogoVar
BIRC7_chr20_63230905_63245495	63240792	ATGTTCCT others(30): Show ATGTTCCTGTTTATTTACCAACTTGATGATACCTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	298	0.0034	-37	c.54 others(46): Show c.543_*579delTGTTCCTGTTTATTTACCAACTTGATGATACCTGGG G	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		298		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63242463	AAGGAAGG others(30): Show AAGGAAGGCAGCCTCTCGCTGTGAGGGCCAGATTGGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0018 a0003c0008t0001g0018	1	298	0.0034	-37	c.22 others(48): Show c.2214_*2250delAGGAAGGCAGCCTCTCGCTGTGAGGGCCAGATTG GCC	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		1969		chr20	TogoVar
BNC2_chr9_16404503_16875670	16539577	CAGAGAAG others(30): Show CAGAGAAGGGAGGGAGGGAGCGAGGGAGGGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01109.hp2 others(34): Show HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG04199.hp2 NA18986.hp2 NA18991.hp2 NA19030.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0020 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0034 a0001c0001t0036 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0071 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0108 a0001c0002t0006 a0001c0002t0055 a0001c0002t0067 a0001c0002t0094 a0001c0007t0054 a0001c0020t0107 a0003c0008t0025 a0003c0008t0100	a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0060 others(34): Show a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0002g0141 a0001c0001t0003g0106 a0001c0001t0008g0015 a0001c0001t0014g0052 a0001c0001t0014g0090 a0001c0001t0018g0173 a0001c0001t0019g0017 a0001c0001t0020g0079 a0001c0001t0020g0081 a0001c0001t0023g0084 a0001c0001t0024g0133 a0001c0001t0025g0024 a0001c0001t0028g0115 a0001c0001t0034g0036 a0001c0001t0036g0151 a0001c0001t0047g0140 a0001c0001t0048g0116 a0001c0001t0049g0067 a0001c0001t0050g0076 a0001c0001t0051g0146 a0001c0001t0052g0144 a0001c0001t0071g0074 a0001c0001t0077g0011 a0001c0001t0078g0128 a0001c0001t0080g0083 a0001c0001t0108g0126 a0001c0002t0006g0171 a0001c0002t0055g0099 a0001c0002t0067g0138 a0001c0002t0094g0168 a0001c0007t0054g0075 a0001c0020t0107g0119 a0003c0008t0025g0066 a0003c0008t0100g0072	37	174	0.2126	-37	c.669 others(56): Show c.669+12916_669+12952delCTCTCTCTCCCTCCCTCGCTCCCTCC CTCCCTTCTCT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BOD1L1_chr4_13563738_13632725	13573470	ATCTTTCT others(30): Show ATCTTTCTTTCTTTCTTTCTTTCTTTTGAGAAAGAGCC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp1 HG02630.hp2 HG03195.hp1	a0008 a0011 a0008 a0011	a0008c0009 a0011c0012 a0008c0009 a0011c0012	a0008c0009t0002 a0011c0012t0005 a0008c0009t0002 a0011c0012t0005	a0008c0009t0002g0219 a0011c0012t0005g0021 a0008c0009t0002g0219 a0011c0012t0005g0021	2	141	0.0142	-37	c.903 others(56): Show c.9038+3331_9039-3343delGGCTCTTTCTCAAAAGAAAGAAAGAA AGAAAGAAAGA	BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding	25/25			chr4	TogoVar
BOLA2_chr16_29448593_29459351	29450771	TATATATA others(30): Show TATATATATTTTTTTTTTTTTAAATGTATAAATACATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	174	0.0057	-37	c.28 others(48): Show c.2825_*2861delGATGTATTTATACATTTAAAAAAAAAAAAATATA TAT	BOLA2	ENSG00000183336.9	transcript	ENST00000330978.4	protein_coding		2821		chr16	TogoVar
BORCS7_chr10_102849259_102869961	102869497	TCCTGAGT others(30): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	253	0.0040	-37	c.65 others(48): Show c.6574_*6610delCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGC GCC	BORCS7	ENSG00000166275.16	transcript	ENST00000339834.10	protein_coding		4537		chr10	TogoVar
BORCS8_chr19_19171906_19197152	19177677	GAAGGAAG others(30): Show GAAGGAAGGAAGGAAGGAAGAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	402	0.0025	-37	c.43 others(52): Show c.43-254_*43-218delTCTTTTCTTTTCTTTTCTCTTCCTTCCTTC CTTCCTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPGM_chr7_134641853_134684816	134643329	CATTCACT others(30): Show CATTCACTTCCTGCCCATTACCTCCCTGGGTAGCTGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	360	0.0028	-37	c.-36 others(48): Show c.-3669_-3633delATTCACTTCCTGCCCATTACCTCCCTGGGTAGCT GCA	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding		3523		chr7	TogoVar
BPNT2_chr8_56952931_56998867	56988697	AGATGTTT others(30): Show AGATGTTTCTTCAGACCTTCAGACTCATATATTCAACT	A A	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	354	0.0028	-37	c.387 others(54): Show c.387+4465_387+4501delAGTTGAATATATGAGTCTGAAGGTCTGA AGAAACATC	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/4			chr8	TogoVar
BRK1_chr3_10110675_10132190	10131226	GTTTTTTG others(30): Show GTTTTTTGTGTTTTTTTTTTTGAGACAGGGTCTTTCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	348	0.0029	-37	c.49 others(48): Show c.4932_*4968delTTTTTTGTGTTTTTTTTTTTGAGACAGGGTCTTT CTT	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding		4037		chr3	TogoVar
BRSK1_chr19_55278997_55317562	55284859	CCTGGACT others(30): Show CCTGGACTCCTGGGTTTCAGGGAGGAGGGCCTGGGGGT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	336	0.0030	-37	c.136 others(52): Show c.136+310_136+346delCCTGGGGGTCTGGACTCCTGGGTTTCAGGG AGGAGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55285209	GGGAGGAG others(30): Show GGGAGGAGGGGCAGGGGTGCTGAACTCCTGGGTCTGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03654.hp1 HG00642.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0007 a0001c0001t0012	a0001c0001t0007g0269 a0001c0001t0012g0268 a0001c0001t0007g0269 a0001c0001t0012g0268	2	336	0.0060	-37	c.136 others(52): Show c.136+643_136+679delAGGGGTGCTGAACTCCTGGGTCTGAAGGAG GAGGGGC	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55285989	GAGGGAGG others(30): Show GAGGGAGGAGGAACTGGGGGTCTGGAGTGCTGAGTCTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0260 a0001c0004t0005g0260	1	336	0.0030	-37	c.137 others(53): Show c.137-1007_137-971delAACTGGGGGTCTGGAGTGCTGAGTCTAAG GGAGGAGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55286001	ACTGGGGG others(30): Show ACTGGGGGTCTGGAGTGCTGAGTCTAAGGGAGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02004.hp2 HG03516.hp2 HG01257.hp2 HG02004.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0143 a0001c0001t0002g0277 a0001c0001t0029g0145 a0001c0001t0002g0143 a0001c0001t0002g0277 a0001c0001t0029g0145	3	336	0.0089	-37	c.137 others(52): Show c.137-986_137-950delAGTCTAAGGGAGGAGGGGCTGGGGGTCTGG AGTGCTG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55286046	TCTGGAGT others(30): Show TCTGGAGTGCTGGGTCTGAGGGAGGAGGGGCTGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00741.hp2 others(26): Show HG00558.hp2 HG00621.hp1 HG00741.hp2 HG02071.hp1 HG02129.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03516.hp1 HG03540.hp2 NA18906.hp2 NA18965.hp1 NA19012.hp1 NA19062.hp1 NA19065.hp2 NA19074.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0015 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0004t0005 a0001c0005t0001 a0001c0009t0003 a0001c0015t0001 a0002c0003t0002	a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0027 others(23): Show a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0092 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0286 a0001c0001t0002g0012 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0003g0091 a0001c0001t0003g0251 a0001c0001t0004g0253 a0001c0002t0001g0028 a0001c0002t0001g0059 a0001c0002t0001g0278 a0001c0004t0005g0149 a0001c0005t0001g0284 a0001c0009t0003g0146 a0001c0015t0001g0080 a0002c0003t0002g0252	29	325	0.0892	-37	c.137 others(52): Show c.137-898_137-862delGGGGCTGGGGGCCTGGAGTGCTGGGTCTGA GGGAGGA	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55286109	GGGGCTGG others(30): Show GGGGCTGGGGGCCTGGAGTGCTGGGTCTGAGGGAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	336	0.0030	-37	c.137 others(52): Show c.137-894_137-858delCTGGGGGCCTGGAGTGCTGGGTCTGAGGGA GGAAGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55286190	TGGGGTCT others(30): Show TGGGGTCTGGACTCCTGGGTCTGAGGGAGGATGGAATG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02717.hp2 others(2): Show HG01884.hp2 HG02559.hp2 HG02717.hp2 HG02976.hp1 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0151 a0002c0003t0002g0152 a0002c0003t0002g0008 a0002c0003t0002g0151 a0002c0003t0002g0152	5	336	0.0149	-37	c.137 others(52): Show c.137-812_137-776delTCTGGACTCCTGGGTCTGAGGGAGGATGGA ATGGGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK2_chr11_1384934_1467689	1441052	CCCCCATT others(30): Show CCCCCATTAGCTGCCCCTCAAGTGCACCATCTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0040 a0001c0003t0014g0040	1	358	0.0028	-37	c.413 others(52): Show c.413+151_413+187delCATCTCCTCCTCCCCATTAGCTGCCCCTCA AGTGCAC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTBD9_chr6_38163451_38644929	38354309	ACAGCATC others(30): Show ACAGCATCTGCAGGCATTATTTCTTTTCATGGAAAACC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0187 a0001c0001t0017g0187	1	222	0.0045	-37	c.115 others(56): Show c.1155-9253_1155-9217delGGTTTTCCATGAAAAGAAATAATGCC TGCAGATGCTG	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
C10orf90_chr10_126419997_126675693	126489998	TATATATT others(30): Show TATATATTATATATATTATATATAATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0004 a0005c0006t0001g0005 a0005c0006t0001g0004 a0005c0006t0001g0005	2	216	0.0093	-37	c.153 others(58): Show c.1534+13922_1534+13958delTATATATTATATATTATATATAAT ATATATAATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	4/9			chr10	TogoVar
C11orf71_chr11_114393532_114405511	114394178	CGTTTCTT others(30): Show CGTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02135.hp2 HG02630.hp1 others(2): Show HG02055.hp1 HG02135.hp2 HG02630.hp1 HG03098.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0000 a0001c0001t0014g0000 a0001c0001t0003g0000 a0001c0001t0014g0000	5	402	0.0124	-37	c.57 others(48): Show c.5745_*5781delAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAC	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4353		chr11	TogoVar
C13orf46_chr13_113948705_113979076	113963196	CGTCCTCA others(30): Show CGTCCTCAGCCTTGCCCCTGTCCTCAGCCTCGGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0099 a0001c0001t0092g0099	1	412	0.0024	-37	c.572 others(54): Show c.572+1694_572+1730delAGGGGCCGAGGCTGAGGACAGGGGCAAG GCTGAGGAC	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	6/6			chr13	TogoVar
C13orf46_chr13_113948705_113979076	113965527	ATGATTAT others(30): Show ATGATTATGGTGGTGATAATGTTGATGGTGATGACGAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	412	0.0024	-37	c.505 others(52): Show c.505-570_505-534delATCGTCATCACCATCAACATTATCACCACC ATAATCA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	5/6			chr13	TogoVar
C17orf58_chr17_67986099_68001469	67998516	CTCCATCC others(30): Show CTCCATCCAAAAGAGTAAACCTCTACAGCCCCTGCAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	410	0.0024	-37	c.-23 others(48): Show c.-2355_-2319delTTTGCAGGGGCTGTAGAGGTTTACTCTTTTGGAT GGA	C17orf58	ENSG00000186665.10	transcript	ENST00000580729.3	protein_coding		2048		chr17	TogoVar
C19orf84_chr19_51383289_51395591	51390748	CCTCAGAC others(30): Show CCTCAGACCCAGGAGTCCAGATCCCCAGCTCCTCCTCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00558.hp1 others(150): Show HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18963.hp1 NA18965.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp2 NA18976.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19074.hp2 NA19079.hp2 NA19082.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0004t0005 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0010 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0003t0003 a0004c0007t0004	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0002g0002 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0002g0002 a0001c0001t0005g0011 a0001c0004t0005g0017 a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0025 a0002c0002t0003g0033 a0002c0002t0004g0004 a0002c0002t0004g0010 a0002c0002t0004g0015 a0002c0002t0008g0012 a0002c0002t0010g0014 a0002c0002t0013g0027 a0002c0002t0014g0028 a0002c0002t0015g0029 a0002c0003t0003g0007 a0004c0007t0004g0030	153	444	0.3446	-37	c.-27 others(46): Show c.-273_-237delCGAGGAGGAGCTGGGGATCTGGACTCCTGGGTCTGA G	C19orf84	ENSG00000262874.2	transcript	ENST00000574814.2	protein_coding		158		chr19	TogoVar
C19orf84_chr19_51383289_51395591	51390884	CCCCCTCC others(30): Show CCCCCTCCTCCCTCAGACCCGGAAGTCTAGGGCCCCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	-37	c.-40 others(46): Show c.-409_-373delCTGGGGCCCTAGACTTCCGGGTCTGAGGGAGGAGGG G	C19orf84	ENSG00000262874.2	transcript	ENST00000574814.2	protein_coding		294		chr19	TogoVar

Search by Variant

Search

Search Results