Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP10A_chr15_25673712_25868327	25758225	A A	ACTCATTC others(97): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	300	0.0033	104	c.655 others(123): Show c.655-22085_655-22084insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758225	A A	ATTCCGAC others(97): Show ATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0140 a0004c0004t0001g0140	1	300	0.0033	104	c.655 others(123): Show c.655-22085_655-22084insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAA	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758236	C C	CCACCTGC others(97): Show CCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATT CCGAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0083 a0007c0083	a0007c0083t0001 a0007c0083t0001	a0007c0083t0001g0279 a0007c0083t0001g0279	1	300	0.0033	104	c.655 others(123): Show c.655-22096_655-22095insATCGGAATGAGGGTGGAGCAGGTGGT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758253	A A	ACTCATTC others(97): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0064 a0003c0064	a0003c0064t0001 a0003c0064t0001	a0003c0064t0001g0241 a0003c0064t0001g0241	1	300	0.0033	104	c.655 others(123): Show c.655-22113_655-22112insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758309	A A	ACTCATTC others(97): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	300	0.0033	104	c.655 others(123): Show c.655-22169_655-22168insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758365	A A	ACTCATTC others(97): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTTACTCATTCTGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0188 a0017c0020t0001g0188	1	300	0.0033	104	c.655 others(123): Show c.655-22225_655-22224insGGTGGAGCAGGTGATCAGAATGAGTA AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758393	A A	ACTCATTC others(97): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0051 a0051	a0051c0037 a0051c0037	a0051c0037t0001 a0051c0037t0001	a0051c0037t0001g0212 a0051c0037t0001g0212	1	300	0.0033	104	c.655 others(123): Show c.655-22253_655-22252insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758449	A A	ACTCATTC others(97): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0074 a0003c0003t0001g0074	1	300	0.0033	104	c.655 others(123): Show c.655-22309_655-22308insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758449	A A	ACTCATTC others(97): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	300	0.0033	104	c.655 others(123): Show c.655-22309_655-22308insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAG TTAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758516	T T	TCACCTGC others(97): Show TCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATT CCGAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0248 a0002c0002t0001g0248	1	300	0.0033	104	c.655 others(123): Show c.655-22376_655-22375insGTCGGAATGAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758533	A A	ACTCATTC others(97): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0193 a0011c0008t0001g0193	1	300	0.0033	104	c.655 others(123): Show c.655-22393_655-22392insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758533	A A	ACTCATTC others(97): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0038 a0038	a0038c0050 a0038c0050	a0038c0050t0001 a0038c0050t0001	a0038c0050t0001g0054 a0038c0050t0001g0054	1	300	0.0033	104	c.655 others(123): Show c.655-22393_655-22392insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758589	A A	ATTCCGAC others(97): Show ATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	300	0.0033	104	c.654 others(123): Show c.654+22429_654+22430insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAA	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758600	T T	TCACCTGC others(97): Show TCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATT CCGAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0021 a0021	a0021c0081 a0021c0081	a0021c0081t0001 a0021c0081t0001	a0021c0081t0001g0278 a0021c0081t0001g0278	1	300	0.0033	104	c.654 others(123): Show c.654+22418_654+22419insGTCGGAATGAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGATCGGAATGAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758617	A A	ACTCATTC others(97): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0019 a0019	a0019c0029 a0019c0029	a0019c0029t0001 a0019c0029t0001	a0019c0029t0001g0152 a0019c0029t0001g0152	1	300	0.0033	104	c.654 others(123): Show c.654+22401_654+22402insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758645	A A	ACTCATTC others(97): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0050 a0003c0003t0001g0050	1	300	0.0033	104	c.654 others(123): Show c.654+22373_654+22374insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758684	C C	CCACCTGC others(97): Show CCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCCTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATT CCTAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0045 a0008c0006t0001g0045	1	300	0.0033	104	c.654 others(123): Show c.654+22334_654+22335insATAGGAATGAGTTAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCA GGTGATCGGAATGAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758753	A A	ATTCCGAC others(97): Show ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	300	0.0033	104	c.654 others(123): Show c.654+22265_654+22266insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAA	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758781	A A	ACTCATTC others(97): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0300 a0003c0013t0002g0300	1	300	0.0033	104	c.654 others(123): Show c.654+22237_654+22238insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160652889	T T	TTATATAA others(97): Show TTATATAATATATTATATATACATGTATATATAATATATTATATATACAT GTATATATAATATATTATATATACATGTATATATAATATATTATATATAC ATGTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02027.hp1 HG02074.hp1 HG00738.hp1 HG02027.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0008 a0001c0005t0014 a0001c0001t0002 a0001c0001t0008 a0001c0005t0014	a0001c0001t0002g0069 a0001c0001t0008g0135 a0001c0005t0014g0022 a0001c0001t0002g0069 a0001c0001t0008g0135 a0001c0005t0014g0022	3	236	0.0127	104	c.676 others(121): Show c.676-3634_676-3633insTACATGTATATATAATATATTATATATA CATGTATATATAATATATTATATATACATGTATATATAATATATTATATA TACATGTATATATAATATATTATATA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP13A5_chr3_193269789_193383753	193362759	T T	TTCCTTCT others(97): Show TTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTT CTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCT TTCTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02735.hp1 NA18612.hp2 HG02135.hp2 HG02735.hp1 NA18612.hp2	a0006 a0007 a0006 a0007	a0006c0005 a0007c0008 a0006c0005 a0007c0008	a0006c0005t0002 a0007c0008t0002 a0006c0005t0002 a0007c0008t0002	a0006c0005t0002g0207 a0006c0005t0002g0227 a0007c0008t0002g0201 a0006c0005t0002g0207 a0006c0005t0002g0227 a0007c0008t0002g0201	3	284	0.0106	104	c.385 others(119): Show c.385-123_385-122insGAGAAAGAAAGAGAGAAAGAAAGAGAGAAA GAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAGGA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193362775	T T	TTCTTTCT others(97): Show TTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTT CTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCT TTCTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18946.hp1 NA18970.hp2 others(1): Show HG02165.hp1 NA18946.hp1 NA18970.hp2 NA19088.hp2	a0004 a0005 a0004 a0005	a0004c0003 a0005c0004 a0004c0003 a0005c0004	a0004c0003t0002 a0005c0004t0002 a0004c0003t0002 a0005c0004t0002	a0004c0003t0002g0216 a0005c0004t0002g0213 a0005c0004t0002g0214 others(1): Show a0004c0003t0002g0216 a0005c0004t0002g0213 a0005c0004t0002g0214 a0005c0004t0002g0215	4	284	0.0141	104	c.385 others(119): Show c.385-139_385-138insGAGAAAGAAAGAGAGAAAGAAAGAGAGAAA GAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGA AAGAGAGAAAGAAAGAAAGAAAGA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193362787	T T	TTCTTTCT others(97): Show TTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTT CTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCT TTCTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0033 a0033	a0033c0029 a0033c0029	a0033c0029t0002 a0033c0029t0002	a0033c0029t0002g0251 a0033c0029t0002g0251	1	284	0.0035	104	c.385 others(119): Show c.385-151_385-150insGAGAAAGAAAGAGAGAAAGAAAGAGAGAAA GAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGA AAGAGAGAAAGAAAGAGAGAAAGA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193362799	T T	TCTTTCTT others(97): Show TCTTTCTTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTT CTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCT TTCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0002 a0013c0022t0002	a0013c0022t0002g0196 a0013c0022t0002g0196	1	284	0.0035	104	c.385 others(119): Show c.385-163_385-162insGAGAAAGAAAGAGAGAAAGAAAGAGAGAAA GAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGA AAGAGAGAAAGAAAGAGAAGAAAG	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP1B4_chrX_120357089_120388237	120374786	T T	TACCCTTA others(97): Show TACCCTTATATATAATATATATATTATATTATATATAAGGGTATATATAT ATTATATATAAGGGTATATATATTATATTATATATAAGGGTATATATATA TATTA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	353	0.0028	104	c.563 others(119): Show c.563-586_563-585insACCCTTATATATAATATATATATTATATTA TATATAAGGGTATATATATATTATATATAAGGGTATATATATTATATTAT ATATAAGGGTATATATATATATTA	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	4/7			chrX	TogoVar
ATP6V0A4_chr7_138701294_138803196	138746005	T T	TATATATT others(97): Show TATATATTTATAATATAATATATATTTATAATATATATTATAAATATAAA TAATATATATTTATAATATAATATATATTTATAATATATATTATAAATAT AAATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02040.hp2 HG02135.hp2 others(3): Show HG00558.hp1 HG02040.hp2 HG02135.hp2 HG03710.hp2 NA18982.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0188 a0002c0002t0001g0088 a0002c0002t0001g0115 others(3): Show a0001c0001t0001g0188 a0002c0002t0001g0088 a0002c0002t0001g0115 a0002c0002t0001g0203 a0002c0002t0001g0251 a0002c0002t0001g0307	6	376	0.0160	104	c.132 others(121): Show c.1321-726_1321-725insTATTTATATTTATAATATATATTATAAA TATATATTATATTATAAATATATATTATTTATATTTATAATATATATTAT AAATATATATTATATTATAAATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP8B4_chr15_49853238_50124233	50085958	T T	TATTTATC others(97): Show TATTTATCATATATATTATGATATTATATATCATATATATTATATATGAT ATATATCATATATATTTATATATGATATATATCATATTTATATATGATAT ATATC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03225.hp1 HG00733.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0008 a0001c0001t0028 a0002c0002t0008	a0001c0001t0028g0175 a0002c0002t0008g0226 a0001c0001t0028g0175 a0002c0002t0008g0226	2	254	0.0079	104	c.29- others(121): Show c.29-11774_29-11773insGATATATATCATATATAAATATGATATA TATCATATATAAATATATATGATATATATCATATATAATATATATGATAT ATAATATCATAATATATATGATAAAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
B4GALNT3_chr12_454939_568509	545902	T T	TGAGAGGA others(97): Show TGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG GTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGA GGTGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18954.hp1 NA18979.hp1 others(4): Show HG02004.hp1 NA18954.hp1 NA18979.hp1 NA18998.hp1 NA19064.hp2 NA19065.hp2 NA19090.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0021 a0001c0001 a0013c0021	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0013c0021t0001 a0013c0021t0002	a0001c0001t0001g0021 a0001c0001t0001g0112 a0001c0001t0008g0002 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0112 a0001c0001t0008g0002 a0001c0001t0009g0071 a0001c0001t0009g0117 a0013c0021t0001g0031 a0013c0021t0002g0254	7	394	0.0178	104	c.639 others(119): Show c.639+436_639+437insAGGAGTGGGGAGGTGCGAGGAGTGGGGAGG TGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG GTGCGAGGAGTGGGGAGGTGAGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	545902	T T	TGCGAGGA others(97): Show TGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGATGAGAGGAGTGGGGAG GTGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGA GGTGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0282 a0001c0001t0016g0282	1	394	0.0025	104	c.639 others(119): Show c.639+434_639+435insCGAGGAGTGGGGAGGTGAGAGGAGTGGGGA GATGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGAGAGGAGTGGGG AGGTGCGAGGAGTGGGGAGGTGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	375121	G G	GGAGGAAG others(97): Show GGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGAGGAGGAGGAAGGAGGGAGGAGGAAGGGAGGGAG GAGGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	184	0.0054	104	c.784 others(119): Show c.784-340_784-339insGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGAGGAGGAGGAAGGAG GGAGGAGGAAGGGAGGGAGGAGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19			chr11	TogoVar
BCAP29_chr7_107575246_107625478	107599280	A A	AAATATAT others(97): Show AAATATATATAATTTTTATATATATATTTATATATAAATATATATAATTT TTATATATATATTTATATATAAATATATATAATTTTTATATATATATTTA TATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01099.hp1 HG00642.hp2 HG01081.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	3	398	0.0075	104	c.481 others(121): Show c.481-1116_481-1115insATATATATAATTTTTATATATATATTTA TATATAAATATATATAATTTTTATATATATATTTATATATAAATATATAT AATTTTTATATATATATTTATATATA	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCL2_chr18_63118346_63324769	63264905	T T	TGAGAGAG others(97): Show TGAGAGAGACCAAGGTAAGGCACCACCCTTCTGAGATACAGCGATGGGAG GTGACACAACTCTTGACATGACCAGAGCAGTGATGTCCACAGGGCAGACG GCACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(260): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0037 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0015 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0039 a0001c0002t0041 a0001c0004t0002 a0001c0004t0006 a0001c0004t0008 a0001c0004t0031 a0001c0004t0038 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0021 a0003c0005t0004	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(260): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0114 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0139 a0001c0001t0003g0144 a0001c0001t0003g0148 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0179 a0001c0001t0003g0187 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0225 a0001c0001t0003g0236 a0001c0001t0003g0244 a0001c0001t0004g0133 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0155 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0193 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0206 a0001c0001t0005g0115 a0001c0001t0005g0130 a0001c0001t0005g0132 a0001c0001t0005g0158 a0001c0001t0005g0161 a0001c0001t0005g0169 a0001c0001t0005g0176 a0001c0001t0005g0184 a0001c0001t0005g0195 a0001c0001t0005g0241 a0001c0001t0006g0001 a0001c0001t0006g0005 a0001c0001t0006g0022 a0001c0001t0006g0028 a0001c0001t0006g0030 a0001c0001t0007g0121 a0001c0001t0007g0126 a0001c0001t0007g0131 a0001c0001t0007g0166 a0001c0001t0007g0209 a0001c0001t0007g0218 a0001c0001t0007g0226 a0001c0001t0007g0231 a0001c0001t0008g0008 a0001c0001t0008g0024 a0001c0001t0008g0034 a0001c0001t0010g0137 a0001c0001t0010g0138 a0001c0001t0010g0189 a0001c0001t0010g0235 a0001c0001t0011g0033 a0001c0001t0012g0163 a0001c0001t0012g0234 a0001c0001t0012g0239 a0001c0001t0012g0242 a0001c0001t0013g0116 a0001c0001t0013g0157 a0001c0001t0013g0229 a0001c0001t0014g0108 a0001c0001t0014g0135 a0001c0001t0014g0149 a0001c0001t0016g0010 a0001c0001t0016g0026 a0001c0001t0017g0219 a0001c0001t0017g0245 a0001c0001t0018g0160 a0001c0001t0018g0185 a0001c0001t0019g0153 a0001c0001t0019g0237 a0001c0001t0020g0120 a0001c0001t0020g0240 a0001c0001t0021g0183 a0001c0001t0022g0180 a0001c0001t0022g0181 a0001c0001t0023g0258 a0001c0001t0023g0259 a0001c0001t0024g0261 a0001c0001t0028g0006 a0001c0001t0029g0032 a0001c0001t0030g0031 a0001c0001t0032g0014 a0001c0001t0037g0002 a0001c0001t0040g0154 a0001c0001t0042g0124 a0001c0001t0043g0125 a0001c0001t0044g0109 a0001c0001t0045g0147 a0001c0001t0046g0175 a0001c0001t0047g0128 a0001c0001t0048g0140 a0001c0001t0049g0173 a0001c0001t0050g0152 a0001c0001t0051g0172 a0001c0001t0052g0230 a0001c0001t0053g0251 a0001c0001t0054g0255 a0001c0001t0055g0252 a0001c0001t0056g0254 a0001c0001t0057g0253 a0001c0001t0058g0257 a0001c0001t0059g0256 a0001c0001t0060g0263 a0001c0001t0061g0262 a0001c0001t0062g0260 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0002g0090 a0001c0002t0003g0249 a0001c0002t0006g0057 a0001c0002t0006g0065 a0001c0002t0006g0069 a0001c0002t0008g0083 a0001c0002t0008g0085 a0001c0002t0009g0048 a0001c0002t0009g0060 a0001c0002t0009g0074 a0001c0002t0009g0087 a0001c0002t0009g0088 a0001c0002t0009g0089 a0001c0002t0010g0250 a0001c0002t0011g0045 a0001c0002t0011g0070 a0001c0002t0011g0071 a0001c0002t0015g0061 a0001c0002t0015g0062 a0001c0002t0025g0047 a0001c0002t0026g0055 a0001c0002t0027g0056 a0001c0002t0033g0077 a0001c0002t0034g0072 a0001c0002t0035g0079 a0001c0002t0036g0052 a0001c0002t0039g0091 a0001c0002t0041g0246 a0001c0004t0002g0037 a0001c0004t0002g0039 a0001c0004t0002g0041 a0001c0004t0002g0044 a0001c0004t0006g0038 a0001c0004t0008g0042 a0001c0004t0008g0043 a0001c0004t0031g0036 a0001c0004t0038g0040 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0098 a0002c0003t0001g0100 a0002c0003t0003g0095 a0002c0003t0003g0099 a0002c0003t0004g0096 a0002c0003t0004g0097 a0002c0003t0021g0092 a0003c0005t0004g0101	263	264	0.9962	104	c.585 others(123): Show c.585+53176_585+53177insTGTGCCGTCTGCCCTGTGGACATCAC TGCTCTGGTCATGTCAAGAGTTGTGTCACCTCCCATCGCTGTATCTCAGA AGGGTGGTGCCTTACCTTGGTCTCTCTC	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63308099	A A	AACAAAAC others(97): Show AACAAAACACACCAAACAAAATAAAACAATGCTTCATCTAACTGATGAAG TTCCAAAGACAAATCAGTTTAAAACCACAGATAGCTGTGAAACTGCTTGA ACCAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0087 a0001c0002t0009g0087	1	264	0.0038	104	c.585 others(121): Show c.585+9982_585+9983insCTGGTTCAAGCAGTTTCACAGCTATCTG TGGTTTTAAACTGATTTGTCTTTGGAACTTCATCAGTTAGATGAAGCATT GTTTTATTTTGTTTGGTGTGTTTTGT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL6_chr3_187716381_187750468	187718035	A A	AACTCCCC others(97): Show AACTCCCCAGAAGCATGGCTATCTGTGAAGCGTAAGGGTCCTTCTAATGG CAGACTCCCCAGAAGCATGGCTATCTGTGAAGCGTAAGGGTCCTTCTAAT GGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	404	0.0025	104	c.44 others(115): Show c.4422_*4423insCTGCCATTAGAAGGACCCTTACGCTTCACAGATA GCCATGCTTCTGGGGAGTCTGCCATTAGAAGGACCCTTACGCTTCACAGA TAGCCATGCTTCTGGGGAGT	BCL6	ENSG00000113916.18	transcript	ENST00000406870.7	protein_coding		3345		chr3	TogoVar
BDH1_chr3_197504783_197560968	197517616	C C	CCCCCTCA others(97): Show CCCCCTCATCAGTCATTTCCTGCTCTATGGTCTCAATCCCCCTTCAGGCC GACCCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCAATCCCCCTTCAG GCCGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0072 a0001c0001t0127g0072	1	319	0.0031	104	c.410 others(121): Show c.410-3201_410-3200insTCGGCCTGAAGGGGGATTGAGACCATAG AGCAGGAAGTGACTGATTGGGGGGGTCGGCCTGAAGGGGGATTGAGACCA TAGAGCAGGAAATGACTGATGAGGGG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425943	A A	AGGCTAGG others(97): Show AGGCTAGGGAAGGCAAGGGAAGGGAGGGGAGGGGGAAGTGGAGGGGAGGG GGAGGGGAGGGGAGGGAGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GGAGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	276	0.0036	104	c.490 others(123): Show c.490-21372_490-21371insCTAGGGAAGGCAAGGGAAGGGAGGGG AGGGGGAAGTGGAGGGGAGGGGGAGGGGAGGGGAGGGAGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BMERB1_chr16_15429588_15593259	15591978	G G	GATATATA others(97): Show GATATATATCTATATATTATATATAGATATATATCTATATATAATATATA GATATATATCTATATATAATATATAGATATATATCTATATATAATATATA GATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	291	0.0034	104	c.51 others(115): Show c.5149_*5150insATATATATCTATATATTATATATAGATATATATC TATATATAATATATAGATATATATCTATATATAATATATAGATATATATC TATATATAATATATAGATAT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3720		chr16	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(97): Show ATATATATATATATATATATATATATACCCATGGGTATATATATATATAT ATATATATATATACCCATGGGTATATATATATATATATATATATATACCC ATGGG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	386	0.0026	104	c.-81 others(123): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATACCCATG GGTATATATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236286	A A	ATATATAT others(97): Show ATATATATATATATATACCCATGGGTATATATATATATATATACCCATGG GTATATATATATATATATATACCCATGGGTATATATATATATATATACCC ATGGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0113 a0001c0006t0001g0113	1	386	0.0026	104	c.-81 others(123): Show c.-81-13420_-81-13419insCCCATGGGTATATATATATATATATA CCCATGGGTATATATATATATATATATACCCATGGGTATATATATATATA TATACCCATGGGTATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(97): Show ATATATATATATATATATATATATACCCATGGGTATATATATATATATAT ATATATATATACCCATGGGTATATATATATATATATATATATATATACCC ATGGG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0036 a0001c0005t0036	a0001c0005t0036g0148 a0001c0005t0036g0148	1	386	0.0026	104	c.-81 others(123): Show c.-81-13403_-81-13402insGTATATATATATATATATATATATAT ATACCCATGGGTATATATATATATATATATATATATATACCCATGGGTAT ATATATATATATATATATATACCCATGG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRF1_chr14_105204286_105306001	105230056	G G	GACAGCCT others(97): Show GACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTC AGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGG GGGAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	72	0.0139	104	c.695 others(121): Show c.695-1247_695-1144dupGTCCCCCGCCCCCAGCTGGGCGACTACG CGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTG AGGGTGCCACGGGGCTGCCAGGCTGT	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105231608	A A	ACCTCAGG others(97): Show ACCTCAGGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACT GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGGACAGCCTGGCAGCCCCGT GGCAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	72	0.0139	104	c.695 others(121): Show c.695-2696_695-2695insGTGCCACGGGGCTGCCAGGCTGTCCCCC CGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTG AGATGCTAGGTTGTTGCTCCCTGAGG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105232301	A A	ACAGCCTG others(97): Show ACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCA GGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGG GGGAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	72	0.0139	104	c.695 others(121): Show c.695-3389_695-3388insGTCCCCCCGCCCCCAGCTGGGCGACTAC GCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCT GAGGGTGCCACGGGGCTGCCAGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105232513	G G	GCAGCCCC others(97): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0001 a0001c0003t0009g0001	1	72	0.0139	104	c.695 others(121): Show c.695-3601_695-3600insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237789	G G	GCCCAGCT others(97): Show GCCCAGCTGGGGGCGGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGG AGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTA GTCGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	72	0.0139	104	c.694 others(121): Show c.694+3475_694+3476insACGACTACGCGGACAGTGGTGTGGCCTC TCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCC AGGCTGTCCCCCCGCCCCCAGCTGGG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238378	G G	GCCACACC others(97): Show GCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGGACAGCCT GGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGA GAGGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	72	0.0139	104	c.694 others(121): Show c.694+2886_694+2887insGCCTCTCTCTCCTGAGATGCTAGGTTGT TGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BTBD9_chr6_38163451_38644929	38374305	A A	ATATATAT others(97): Show ATATATATATATATATATATATATATATACGTATATATATATATATATAT ATATACGTATATATATATATATATATATATACGTATATATATATATATAT ATATG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0216 a0001c0001t0033g0216	1	224	0.0045	104	c.115 others(125): Show c.1155-29213_1155-29212insCATATATATATATATATATATACG TATATATATATATATATATATATACGTATATATATATATATATATATATA CGTATATATATATATATATATATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38374320	T T	TATATATA others(97): Show TATATATATGTATATATATATATATATATGTATATATATATATATATGTA TATATATATATATGTGTATATATATATATATATATGTATATATATATATA TATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0136 a0001c0001t0136	a0001c0001t0136g0142 a0001c0001t0136g0142	1	224	0.0045	104	c.115 others(125): Show c.1155-29228_1155-29227insGTATATATATATATATATACATAT ATATATATATATATACACATATATATATATATACATATATATATATATAT ACATATATATATATATATATACATATATAT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTN1A1_chr6_26495303_26515425	26514199	T T	TTATATAT others(97): Show TTATATATATATACACACACATATATAATATATGTGCACATATATATATT ATATATATATATTATATATATATTATATATATATATATATAATATATATA TTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 NA19030.hp2 HG00735.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	2	414	0.0048	104	c.50 others(115): Show c.5025_*5026insTATATATATATACACACACATATATAATATATGT GCACATATATATATTATATATATATATTATATATATATTATATATATATA TATATAATATATATATTATA	BTN1A1	ENSG00000124557.14	transcript	ENST00000684113.1	protein_coding		3775		chr6	TogoVar
BTN1A1_chr6_26495303_26515425	26514199	T T	TTATATAT others(97): Show TTATATATATATACACACACATATATAATATATGTGCACATATATATATT ATATATATATTATATATATATATTATATATATATTATATATATATATATA TTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0003 a0008c0007t0003	a0008c0007t0003g0005 a0008c0007t0003g0005	1	414	0.0024	104	c.50 others(115): Show c.5025_*5026insTATATATATATACACACACATATATAATATATGT GCACATATATATATTATATATATATTATATATATATATTATATATATATT ATATATATATATATATTATA	BTN1A1	ENSG00000124557.14	transcript	ENST00000684113.1	protein_coding		3775		chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)