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
AACS_chr12_125060435_125148316	125114794	AGGCGCCG others(29): Show AGGCGCCGGCCCGTGGCACATGGTAAGGGCTTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA19043.hp2 HG01099.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0109 a0002c0002t0001g0069 a0001c0001t0001g0109 a0002c0002t0001g0069	2	359	0.0056	-36	c.996 others(51): Show c.996+315_996+350delCGGCCCGTGGCACATGGTAAGGGCTTCCCC GGGCGC	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125114881	GCACATGG others(29): Show GCACATGGTAAGGGCTTCCCCGGGCGCTGGCCCGTGA	G G	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	362	0.0028	-36	c.996 others(51): Show c.996+351_996+386delTGGCCCGTGACACATGGTAAGGGCTTCCCC GGGCGC	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABAT_chr16_8669617_8789570	8737933	AAGAAAGG others(29): Show AAGAAAGGAAAGGAAGAAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	303	0.0033	-36	c.70+ others(51): Show c.70+2126_70+2161delGAAAGGAAAGGAAGAAAGGAAGGAAGGAAG GAAGGA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8754662	ATTTATTT others(29): Show ATTTATTTATTTCTTTCTTTCTTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0237 a0002c0002t0006g0237	1	21	0.0476	-36	c.317 others(53): Show c.317-3091_317-3056delATTTATTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA1_chr9_104776006_104933155	104862676	GGCCGGGC others(29): Show GGCCGGGCCGGGCCGGGCCGGGCCGGCCCCCACCCCC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0316 a0002c0032t0001g0316	1	272	0.0037	-36	c.422 others(51): Show c.422-912_422-877delGGGGGTGGGGGCCGGCCCGGCCCGGCCCGG CCCGGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA7_chr19_1035107_1070572	1035181	GGGGAGCG others(29): Show GGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	28	0.0357	-36	c.-51 others(47): Show c.-5152_-5117delGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGA CC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding		4925		chr19	TogoVar
ABCA9_chr17_68969488_69065927	69046894	TATATATA others(29): Show TATATATATATATATATATAAAATTTTATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0269 a0004c0005t0003g0269	1	310	0.0032	-36	c.305 others(53): Show c.305-1594_305-1559delCTATATATATAAAATTTTATATATATAT ATATATAT	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	3/38			chr17	TogoVar
ABCB5_chr7_20610667_20762008	20667668	TCTGCCCC others(29): Show TCTGCCCCTGCCCCTGCCCCTGCCCCTGCCCCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0056 a0056	a0056c0074 a0056c0074	a0056c0074t0005 a0056c0074t0005	a0056c0074t0005g0132 a0056c0074t0005g0132	1	19	0.0526	-36	c.170 others(55): Show c.1707+9022_1707+9057delCCTGCCCCTGCCCCTGCCCCTGCCCC TGCCCCTGCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20680970	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(58): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00735.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01978.hp2 HG02257.hp1 HG02451.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18959.hp1 NA18973.hp2 NA18989.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(13): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0012 a0013 a0016 a0025 a0026 a0045 a0054 a0060 a0063	a0001c0001 a0001c0005 a0002c0003 others(22): Show a0001c0001 a0001c0005 a0002c0003 a0002c0012 a0002c0035 a0002c0048 a0004c0004 a0004c0008 a0005c0006 a0005c0015 a0005c0107 a0006c0007 a0006c0019 a0007c0011 a0009c0020 a0012c0026 a0012c0094 a0013c0023 a0016c0036 a0025c0030 a0026c0089 a0045c0091 a0054c0045 a0060c0051 a0063c0103	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0002c0003t0003 a0002c0012t0001 a0002c0012t0003 a0002c0035t0001 a0002c0048t0012 a0004c0004t0001 a0004c0004t0002 a0004c0004t0024 a0004c0008t0001 a0004c0008t0002 a0005c0006t0001 a0005c0006t0003 a0005c0015t0004 a0005c0107t0002 a0006c0007t0001 a0006c0019t0001 a0007c0011t0004 a0009c0020t0001 a0012c0026t0006 a0012c0094t0004 a0013c0023t0001 a0016c0036t0001 a0025c0030t0005 a0026c0089t0004 a0045c0091t0004 a0054c0045t0004 a0060c0051t0001 a0063c0103t0019	a0001c0001t0001g0001 a0001c0001t0001g0232 a0001c0001t0001g0275 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0232 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0325 a0001c0001t0002g0273 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0005t0001g0224 a0001c0005t0001g0252 a0001c0005t0001g0283 a0001c0005t0001g0327 a0002c0003t0003g0004 a0002c0003t0003g0025 a0002c0003t0003g0027 a0002c0012t0001g0092 a0002c0012t0003g0010 a0002c0035t0001g0076 a0002c0048t0012g0062 a0004c0004t0001g0002 a0004c0004t0002g0118 a0004c0004t0002g0278 a0004c0004t0002g0279 a0004c0004t0002g0280 a0004c0004t0002g0284 a0004c0004t0002g0285 a0004c0004t0002g0289 a0004c0004t0024g0142 a0004c0008t0001g0276 a0004c0008t0002g0225 a0005c0006t0001g0258 a0005c0006t0001g0286 a0005c0006t0001g0288 a0005c0006t0003g0005 a0005c0015t0004g0055 a0005c0015t0004g0215 a0005c0107t0002g0326 a0006c0007t0001g0302 a0006c0007t0001g0320 a0006c0007t0001g0322 a0006c0007t0001g0323 a0006c0019t0001g0301 a0006c0019t0001g0321 a0007c0011t0004g0073 a0009c0020t0001g0298 a0009c0020t0001g0299 a0012c0026t0006g0072 a0012c0094t0004g0074 a0013c0023t0001g0175 a0016c0036t0001g0077 a0025c0030t0005g0294 a0026c0089t0004g0075 a0045c0091t0004g0071 a0054c0045t0004g0064 a0060c0051t0001g0176 a0063c0103t0019g0315	61	346	0.1763	-36	c.170 others(53): Show c.1708-505_1708-470delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681000	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0014 a0015c0021t0014	a0015c0021t0014g0109 a0015c0021t0014g0109	1	326	0.0031	-36	c.170 others(53): Show c.1708-503_1708-468delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681016	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0004 a0007c0011t0004	a0007c0011t0004g0060 a0007c0011t0004g0061 a0007c0011t0004g0060 a0007c0011t0004g0061	2	353	0.0057	-36	c.170 others(53): Show c.1708-485_1708-450delTTCTTTCTTTCTTTCTCTTTCTTTCTTT CTCTCTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC2_chr10_99777640_99857594	99795738	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp2 HG02486.hp2 others(1): Show HG00639.hp2 HG02451.hp2 HG02486.hp2 NA21309.hp1	a0001 a0005 a0014 others(1): Show a0001 a0005 a0014 a0020	a0001c0001 a0005c0008 a0014c0023 others(1): Show a0001c0001 a0005c0008 a0014c0023 a0020c0024	a0001c0001t0001 a0005c0008t0001 a0014c0023t0001 others(1): Show a0001c0001t0001 a0005c0008t0001 a0014c0023t0001 a0020c0024t0001	a0001c0001t0001g0014 a0005c0008t0001g0013 a0014c0023t0001g0217 others(1): Show a0001c0001t0001g0014 a0005c0008t0001g0013 a0014c0023t0001g0217 a0020c0024t0001g0015	4	198	0.0202	-36	c.632 others(53): Show c.632+1301_633-1293delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	6/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC4_chr13_95014835_95306451	95029195	TATATATA others(29): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0049 a0002c0005t0002g0049	1	243	0.0041	-36	c.387 others(55): Show c.3870+5374_3870+5409delCTCTCTCTCTCTCTCTCTATATATAT ATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029199	TATATATA others(29): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA19091.hp2 HG01069.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0008 a0001c0007t0002 a0001c0001t0008 a0001c0007t0002	a0001c0001t0008g0248 a0001c0007t0002g0226 a0001c0001t0008g0248 a0001c0007t0002g0226	2	232	0.0086	-36	c.387 others(55): Show c.3870+5370_3870+5405delCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029201	TATATATA others(29): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02129.hp2 NA18974.hp2 others(1): Show HG00673.hp1 HG02129.hp2 NA18974.hp2 NA19010.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0016	a0001c0001t0008 a0001c0002t0002 a0002c0004t0002 others(1): Show a0001c0001t0008 a0001c0002t0002 a0002c0004t0002 a0003c0016t0002	a0001c0001t0008g0246 a0001c0002t0002g0162 a0002c0004t0002g0231 others(1): Show a0001c0001t0008g0246 a0001c0002t0002g0162 a0002c0004t0002g0231 a0003c0016t0002g0227	4	226	0.0177	-36	c.387 others(55): Show c.3870+5368_3870+5403delCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029203	TATATATA others(29): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18975.hp1 NA18988.hp2 others(1): Show HG02109.hp2 NA18975.hp1 NA18988.hp2 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0005c0018	a0001c0001t0002 a0001c0002t0014 a0002c0004t0002 others(1): Show a0001c0001t0002 a0001c0002t0014 a0002c0004t0002 a0005c0018t0002	a0001c0001t0002g0196 a0001c0002t0014g0178 a0002c0004t0002g0094 others(1): Show a0001c0001t0002g0196 a0001c0002t0014g0178 a0002c0004t0002g0094 a0005c0018t0002g0105	4	232	0.0172	-36	c.387 others(55): Show c.3870+5366_3870+5401delCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029205	TATATATA others(29): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0188 a0001c0002t0002g0188	1	236	0.0042	-36	c.387 others(55): Show c.3870+5364_3870+5399delCTCTCTCTCTCTCTCTCTCTCTCTCT CTATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029207	TATATATA others(29): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0104 a0002c0004t0002g0104	1	238	0.0042	-36	c.387 others(55): Show c.3870+5362_3870+5397delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029209	TATATAGA others(29): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02523.hp2 HG02083.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0205 a0001c0001t0002g0206	2	239	0.0084	-36	c.387 others(55): Show c.3870+5360_3870+5395delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029219	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0039	1	200	0.0050	-36	c.387 others(55): Show c.3870+5350_3870+5385delTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95196582	GAGGAAGG others(29): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0006 a0001c0024t0006	a0001c0024t0006g0031 a0001c0024t0006g0031	1	57	0.0175	-36	c.116 others(55): Show c.1162-1681_1162-1646delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCG1_chr21_42214140_42302244	42293927	ACCACACA others(29): Show ACCACACAGCAGACACCGCCCACACCACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01168.hp1 others(3): Show HG01069.hp2 HG01071.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0134 others(3): Show a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0338 a0001c0001t0002g0339	6	352	0.0170	-36	c.165 others(53): Show c.1654-607_1654-572delGCAGACACCGCCCACACCACACACACAC TCCACACA	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABHD12_chr20_25295214_25395835	25298918	TGGTGCCC others(29): Show TGGTGCCCTGGGAGTCTCTGCCTCCCCAGGTCTGTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	1	314	0.0032	-36	c.18 others(47): Show c.1891_*1926delCCACAGACCTGGGGAGGCAGAGACTCCCAGGGCA CC	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding		1295		chr20	TogoVar
ABI2_chr2_203323394_203437169	203338920	GTGTGTGT others(29): Show GTGTGTGTGTATATGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0101 a0001c0001t0013g0101	1	296	0.0034	-36	c.117 others(55): Show c.117+10291_117+10326delGTGTGTGTATATGTATATATATATAT ATATATATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338924	GTGTGTAT others(29): Show GTGTGTATATGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0183 a0001c0001t0031g0183	1	316	0.0032	-36	c.117 others(55): Show c.117+10295_117+10330delGTGTATATGTATATATATATATATAT ATATATATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338927	TGTATATG others(29): Show TGTATATGTATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02698.hp1 HG03710.hp2 others(2): Show HG02055.hp1 HG02698.hp1 HG03710.hp2 NA18952.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0283 a0001c0001t0002g0187 a0001c0001t0003g0220 others(2): Show a0001c0001t0001g0283 a0001c0001t0002g0187 a0001c0001t0003g0220 a0001c0001t0003g0223 a0001c0001t0003g0289	5	318	0.0157	-36	c.117 others(55): Show c.117+10297_117+10332delGTATATGTATATATATATATATATAT ATATATATAA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11			chr2	TogoVar
ABI2_chr2_203323394_203437169	203338947	TATATATA others(29): Show TATATATATATATATAAATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	303	0.0033	-36	c.117 others(55): Show c.117+10332_117+10367delAATATATATATATATATATAAATATA TATATATATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABLIM1_chr10_114426112_114663275	114583448	CACACACA others(29): Show CACACACACACACACACACACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp1 HG03453.hp1 others(1): Show HG02109.hp2 HG02965.hp1 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0096 others(1): Show a0001c0002t0003 a0001c0002t0008 a0001c0002t0096 a0001c0002t0118	a0001c0002t0003g0151 a0001c0002t0008g0131 a0001c0002t0096g0142 others(1): Show a0001c0002t0003g0151 a0001c0002t0008g0131 a0001c0002t0096g0142 a0001c0002t0118g0250	4	222	0.0180	-36	c.380 others(53): Show c.380-7885_380-7850delATATATATATATATATGTGTGTGTGTGT GTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583452	CACACACA others(29): Show CACACACACACACACACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02074.hp1 HG03834.hp1 others(2): Show HG01081.hp2 HG02074.hp1 HG03834.hp1 NA18941.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0024 a0001c0001t0048 a0001c0001t0072	a0001c0001t0001g0087 a0001c0001t0022g0047 a0001c0001t0024g0182 others(2): Show a0001c0001t0001g0087 a0001c0001t0022g0047 a0001c0001t0024g0182 a0001c0001t0048g0234 a0001c0001t0072g0174	5	213	0.0235	-36	c.380 others(53): Show c.380-7889_380-7854delATATATATATATATATATATGTGTGTGT GTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583454	CACACACA others(29): Show CACACACACACACACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18997.hp1 NA18973.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0017 a0001c0001t0013 a0001c0001t0017	a0001c0001t0013g0179 a0001c0001t0017g0048 a0001c0001t0013g0179 a0001c0001t0017g0048	2	215	0.0093	-36	c.380 others(53): Show c.380-7891_380-7856delATATATATATATATATATATATGTGTGT GTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114601049	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 HG02896.hp2 others(5): Show HG02615.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0009 a0001c0002 a0001c0004 a0002c0009	a0001c0002t0012 a0001c0002t0033 a0001c0002t0038 others(4): Show a0001c0002t0012 a0001c0002t0033 a0001c0002t0038 a0001c0002t0071 a0001c0002t0077 a0001c0004t0011 a0002c0009t0063	a0001c0002t0012g0246 a0001c0002t0033g0004 a0001c0002t0038g0120 others(5): Show a0001c0002t0012g0246 a0001c0002t0033g0004 a0001c0002t0038g0120 a0001c0002t0071g0138 a0001c0002t0077g0018 a0001c0004t0011g0003 a0001c0004t0011g0006 a0002c0009t0063g0144	8	10	0.8000	-36	c.379 others(51): Show c.379+742_379+777delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	8091582	AAAATTAT others(29): Show AAAATTATATATATAATTATATATATTATGTATAATT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp2 HG01891.hp1 others(16): Show HG00597.hp1 HG01069.hp2 HG01891.hp1 HG01978.hp1 HG02145.hp1 HG02451.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp1 HG03098.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp2 NA18970.hp1 NA18983.hp2 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0006 a0001c0003t0023 a0001c0004t0003 a0001c0004t0004 a0004c0006t0006	a0001c0001t0001g0187 a0001c0001t0001g0278 a0001c0001t0001g0279 others(16): Show a0001c0001t0001g0187 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0002g0234 a0001c0001t0005g0204 a0001c0001t0034g0322 a0001c0002t0001g0260 a0001c0002t0002g0129 a0001c0002t0002g0178 a0001c0002t0003g0177 a0001c0003t0001g0076 a0001c0003t0001g0154 a0001c0003t0006g0143 a0001c0003t0006g0144 a0001c0003t0023g0037 a0001c0004t0003g0248 a0001c0004t0004g0126 a0004c0006t0006g0209	19	277	0.0686	-36	c.339 others(53): Show c.339-3334_339-3299delAATTATACATAATATATATAATTATATA TATAATTT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149225966	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19240.hp2 HG03471.hp1 NA19240.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0115 a0002c0005t0008g0116 a0002c0005t0008g0115 a0002c0005t0008g0116	2	235	0.0085	-36	c.758 others(53): Show c.758-4681_758-4646delGTGTGTGTGTGTGTGTATATATATATAT ATATATAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABR_chr17_998519_1184981	1096926	TGGGGAAG others(29): Show TGGGGAAGGGGGGAACCTGCCCGGGGAGGAGAGAGCC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0199 a0001c0004t0048g0199	1	336	0.0030	-36	c.345 others(53): Show c.345+3675_345+3710delGGCTCTCTCCTCCCCGGGCAGGTTCCCC CCTTCCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	3/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143066	GCAGCTCG others(29): Show GCAGCTCGCTCCTGGGGGACAGCTCATTCCTGGGGGA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	325	0.0031	-36	c.62- others(53): Show c.62-17735_62-17700delTCCCCCAGGAATGAGCTGTCCCCCAGGA GCGAGCTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143164	CTCCTGGG others(29): Show CTCCTGGGGGGCAGCTCGCTCCTGGGGGACAGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0079 a0001c0001t0011 a0001c0003t0079	a0001c0001t0011g0233 a0001c0003t0079g0288 a0001c0001t0011g0233 a0001c0003t0079g0288	2	336	0.0060	-36	c.62- others(53): Show c.62-17833_62-17798delATGAGCTGTCCCCCAGGAGCGAGCTGCC CCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143290	CTCCTGGG others(29): Show CTCCTGGGGGGCAGCTCGCTCCTGGGGGACAGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp2 HG02523.hp1 others(7): Show HG02015.hp2 HG02040.hp2 HG02523.hp1 HG03834.hp2 HG04199.hp2 NA18747.hp2 NA18954.hp2 NA18980.hp1 NA19063.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0026 a0001c0001t0030 a0001c0001t0033 a0001c0001t0077	a0001c0001t0001g0188 a0001c0001t0004g0258 a0001c0001t0004g0301 others(7): Show a0001c0001t0001g0188 a0001c0001t0004g0258 a0001c0001t0004g0301 a0001c0001t0007g0289 a0001c0001t0009g0045 a0001c0001t0013g0042 a0001c0001t0026g0026 a0001c0001t0030g0106 a0001c0001t0033g0328 a0001c0001t0077g0290	10	331	0.0302	-36	c.62- others(53): Show c.62-17959_62-17924delATGAGCTGTCCCCCAGGAGCGAGCTGCC CCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143318	ACAGCTCA others(29): Show ACAGCTCATTCCTGGGGGACAGCTCACTCCTGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03710.hp1 HG02074.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0063 a0001c0001t0004 a0001c0001t0063	a0001c0001t0004g0256 a0001c0001t0063g0240 a0001c0001t0004g0256 a0001c0001t0063g0240	2	322	0.0062	-36	c.62- others(53): Show c.62-17987_62-17952delCCCCCCAGGAGTGAGCTGTCCCCCAGGA ATGAGCTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143344	CTCCTGGG others(29): Show CTCCTGGGGGGCAGCTCGCTCCTGGGGGACAGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00544.hp2 others(56): Show HG00280.hp2 HG00323.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG01099.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG02040.hp1 HG02055.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG04204.hp2 NA18522.hp2 NA19007.hp2 NA19081.hp2 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0065 a0001c0001t0070 a0001c0001t0089 a0001c0001t0090 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0042 a0001c0002t0059 a0001c0002t0084 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0054 a0001c0006t0047 a0003c0008t0020	a0001c0001t0001g0081 a0001c0001t0001g0123 a0001c0001t0001g0179 others(56): Show a0001c0001t0001g0081 a0001c0001t0001g0123 a0001c0001t0001g0179 a0001c0001t0001g0192 a0001c0001t0001g0204 a0001c0001t0001g0231 a0001c0001t0002g0080 a0001c0001t0002g0137 a0001c0001t0002g0150 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0224 a0001c0001t0003g0128 a0001c0001t0003g0208 a0001c0001t0004g0252 a0001c0001t0004g0257 a0001c0001t0004g0269 a0001c0001t0004g0314 a0001c0001t0004g0333 a0001c0001t0005g0270 a0001c0001t0005g0285 a0001c0001t0005g0321 a0001c0001t0006g0073 a0001c0001t0006g0085 a0001c0001t0006g0095 a0001c0001t0007g0281 a0001c0001t0007g0283 a0001c0001t0007g0327 a0001c0001t0008g0011 a0001c0001t0009g0017 a0001c0001t0009g0031 a0001c0001t0010g0311 a0001c0001t0013g0027 a0001c0001t0014g0096 a0001c0001t0018g0110 a0001c0001t0020g0135 a0001c0001t0021g0282 a0001c0001t0028g0121 a0001c0001t0029g0178 a0001c0001t0039g0009 a0001c0001t0040g0001 a0001c0001t0043g0007 a0001c0001t0065g0237 a0001c0001t0070g0186 a0001c0001t0089g0297 a0001c0001t0090g0287 a0001c0002t0001g0109 a0001c0002t0002g0065 a0001c0002t0005g0306 a0001c0002t0042g0015 a0001c0002t0059g0235 a0001c0002t0084g0329 a0001c0003t0016g0162 a0001c0003t0016g0230 a0001c0003t0017g0119 a0001c0003t0021g0277 a0001c0003t0054g0232 a0001c0006t0047g0228 a0003c0008t0020g0131	59	313	0.1885	-36	c.62- others(53): Show c.62-18013_62-17978delATGAGCTGTCCCCCAGGAGCGAGCTGCC CCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABTB3_chr12_107313434_107664642	107469982	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0022 a0003c0004t0022	a0003c0004t0022g0041 a0003c0004t0022g0041	1	176	0.0057	-36	c.113 others(57): Show c.1136-50501_1136-50466delTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140220	TTCCTTCC others(29): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0029 a0029	a0029c0080 a0029c0080	a0029c0080t0010 a0029c0080t0010	a0029c0080t0010g0071 a0029c0080t0010g0071	1	306	0.0033	-36	c.653 others(51): Show c.653+177_653+212delCTTCCTTCCTTCCTTCCTTCCATCCTTCCT TCCTTC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140235	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCATCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01258.hp2 NA18974.hp2 HG01255.hp1 HG01258.hp2 NA18974.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0002c0024 a0009c0025 a0001c0002 a0002c0024 a0009c0025	a0001c0002t0008 a0002c0024t0003 a0009c0025t0001 a0001c0002t0008 a0002c0024t0003 a0009c0025t0001	a0001c0002t0008g0304 a0002c0024t0003g0300 a0009c0025t0001g0267 a0001c0002t0008g0304 a0002c0024t0003g0300 a0009c0025t0001g0267	3	279	0.0108	-36	c.653 others(51): Show c.653+198_653+233delATCCTTCCTTCCTTCTTTCCTTCCTTCCTT CCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140256	ATCCTTCC others(29): Show ATCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0039 a0039	a0039c0051 a0039c0051	a0039c0051t0023 a0039c0051t0023	a0039c0051t0023g0277 a0039c0051t0023g0277	1	219	0.0046	-36	c.653 others(51): Show c.653+213_653+248delTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109143182	CTGGGCCT others(29): Show CTGGGCCTGATGGCTCATACCTGTAATTCCAGCACTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0124 a0002c0006t0005g0124	1	306	0.0033	-36	c.653 others(53): Show c.653+3129_653+3164delCCTGATGGCTCATACCTGTAATTCCAGC ACTTTGGG	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109209912	CGTGTGTA others(29): Show CGTGTGTATATATGTGTATACACACATACACACACGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03139.hp1 HG03654.hp1 others(3): Show HG02976.hp1 HG03139.hp1 HG03654.hp1 NA19030.hp1 NA19240.hp1 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0022 a0001c0105 a0010c0075 a0001c0022 a0001c0105 a0010c0075	a0001c0022t0004 a0001c0105t0004 a0010c0075t0003 a0001c0022t0004 a0001c0105t0004 a0010c0075t0003	a0001c0022t0004g0005 a0001c0022t0004g0006 a0001c0022t0004g0007 others(3): Show a0001c0022t0004g0005 a0001c0022t0004g0006 a0001c0022t0004g0007 a0001c0022t0004g0008 a0001c0105t0004g0293 a0010c0075t0003g0214	6	194	0.0309	-36	c.324 others(53): Show c.3249+615_3249+650delCACACATACACACACGTGTGTGTATATA TGTGTATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210240	TGTATATA others(29): Show TGTATATATACACACATGTGTGTATATGTACATATAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02717.hp1 others(4): Show HG02109.hp2 HG02258.hp1 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0001c0016 a0001c0032 others(1): Show a0001c0010 a0001c0016 a0001c0032 a0002c0118	a0001c0010t0009 a0001c0016t0009 a0001c0032t0004 others(1): Show a0001c0010t0009 a0001c0016t0009 a0001c0032t0004 a0002c0118t0005	a0001c0010t0009g0188 a0001c0016t0009g0287 a0001c0016t0009g0288 others(4): Show a0001c0010t0009g0188 a0001c0016t0009g0287 a0001c0016t0009g0288 a0001c0016t0009g0303 a0001c0032t0004g0289 a0001c0032t0004g0290 a0002c0118t0005g0231	7	303	0.0231	-36	c.324 others(53): Show c.3249+888_3249+923delGTATATATACACACATGTGTGTATATGT ACATATAC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52			chr12	TogoVar
ACADM_chr1_75719709_75768679	75737279	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp1 HG02615.hp2 others(2): Show HG01255.hp2 HG02451.hp1 HG02615.hp2 HG02717.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 others(2): Show a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280	5	105	0.0476	-36	c.468 others(53): Show c.468+2421_468+2456delATATATATATATATATATATATATATAT ATATATAT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288263	CTCTGCTC others(29): Show CTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG03139.hp2 NA19005.hp2 others(1): Show HG02080.hp1 HG03139.hp2 NA19005.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0098 a0001c0001t0003g0002 a0001c0001t0001g0006 a0001c0001t0001g0098 a0001c0001t0003g0002	4	293	0.0137	-36	c.52 others(47): Show c.5265_*5300delCACGGGACGGAGCAGAGACTCGGGGGACGGAGCA GA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4127		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288356	TCTGCTCC others(29): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01168.hp1 HG03942.hp1 others(2): Show HG01081.hp1 HG01168.hp1 HG03942.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0183 a0001c0001t0001g0188	5	282	0.0177	-36	c.51 others(47): Show c.5172_*5207delGGACACGGGACGGAGCAGGGACACGGGACGGAGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4034		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288439	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	294	0.0034	-36	c.50 others(47): Show c.5089_*5124delACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3951		chr1	TogoVar

Search by Variant

Search

Search Results