regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD18_chr4_127960406_128044953 | 127966702 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0013others(8): Show | a0001c0001t0002g0228a0001c0001t0002g0229a0001c0001t0002g0230others(25): Show | 28 | 344 | 0.0814 | -8 | c.-18 others(25): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127999061 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(62): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(16): Show | a0002c0002t0001g0270a0002c0002t0001g0272a0002c0002t0001g0276others(62): Show | 65 | 344 | 0.1890 | -8 | c.278 others(25): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127999599 | CTGCCTAT others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02572.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0063a0001c0001t0064 | a0001c0001t0061g0267a0001c0001t0063g0266a0001c0001t0064g0268 | 3 | 344 | 0.0087 | -8 | c.279 others(25): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128039144 | CATATATA others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01891.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0016a0001c0001t0035a0001c0001t0063others(3): Show | a0001c0001t0016g0122a0001c0001t0016g0139a0001c0001t0016g0178others(8): Show | 11 | 344 | 0.0320 | -8 | c.*33 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3365 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
ABHD2_chr15_89083456_89207355 | 89115370 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(1): Show | a0001c0001t0001g0100a0001c0001t0001g0231a0001c0001t0006g0193others(2): Show | 5 | 234 | 0.0214 | -8 | c.-6- others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89146355 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0004a0001c0001t0001g0015a0001c0001t0001g0017others(77): Show | 80 | 234 | 0.3419 | -8 | c.195 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89205128 | TTCTCTCT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02970.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0040 | a0001c0001t0001g0196a0001c0001t0018g0036a0001c0001t0040g0010 | 3 | 234 | 0.0128 | -8 | c.*97 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22600829 | GGGGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00738.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0052a0001c0001t0001g0061a0001c0001t0001g0063others(11): Show | 37 | 424 | 0.0873 | -8 | c.24- others(21): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58264387 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00735.hp2 others(44): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0228a0001c0001t0001g0237a0001c0001t0002g0012others(44): Show | 47 | 302 | 0.1556 | -8 | c.120 others(25): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58264440 | CACACATA others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0154a0001c0001t0005g0218a0001c0001t0005g0229 | 3 | 302 | 0.0099 | -8 | c.120 others(25): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761617 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG01346.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0020others(19): Show | 22 | 358 | 0.0615 | -8 | c.821 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761655 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG03834.hp2 NA18962.hp1 NA19068.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0304a0001c0001t0003g0308a0001c0001t0003g0316others(1): Show | 4 | 358 | 0.0112 | -8 | c.821 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26816986 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(37): Show | 40 | 358 | 0.1117 | -8 | c.285 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26818158 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02976.hp1 HG04199.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0244a0001c0001t0003g0345a0001c0001t0005g0322others(5): Show | 8 | 358 | 0.0224 | -8 | c.285 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26820993 | AGCACTTC others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(69): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(69): Show | 72 | 358 | 0.2011 | -8 | c.285 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26834548 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0103a0001c0001t0001g0104others(33): Show | 36 | 358 | 0.1006 | -8 | c.118 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26835615 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(122): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0019others(122): Show | 125 | 358 | 0.3492 | -8 | c.118 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203338955 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01256.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0002g0008a0001c0001t0002g0052a0001c0001t0002g0053others(9): Show | 12 | 320 | 0.0375 | -8 | c.117 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203342552 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02155.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0014a0001c0001t0002g0059a0001c0001t0003g0208others(3): Show | 6 | 320 | 0.0188 | -8 | c.117 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203357759 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(184): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0186others(184): Show | 187 | 320 | 0.5844 | -8 | c.118 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203370186 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG00741.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0201a0001c0001t0001g0218a0001c0001t0001g0293others(24): Show | 27 | 320 | 0.0844 | -8 | c.285 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI3BP_chr3_100744156_100998421 | 100830106 | CATACATA others(1): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0002a0002c0008others(2): Show | a0001c0005t0001a0002c0002t0007a0002c0008t0019others(2): Show | a0001c0005t0001g0147a0002c0002t0007g0155a0002c0008t0019g0144others(2): Show | 5 | 238 | 0.0210 | -8 | c.245 others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100830110 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02071.hp1 NA18906.hp2 NA18947.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0002c0002others(3): Show | a0001c0001t0006a0001c0017t0007a0002c0002t0003others(4): Show | a0001c0001t0006g0203a0001c0017t0007g0016a0002c0002t0003g0070others(5): Show | 8 | 238 | 0.0336 | -8 | c.245 others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100841194 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(34): Show |
a0002a0006a0012 | a0002c0002a0002c0006a0002c0008others(5): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0005others(17): Show | a0002c0002t0002g0053a0002c0002t0002g0061a0002c0002t0002g0087others(34): Show | 37 | 238 | 0.1555 | -8 | c.176 others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 21/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100843542 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02615.hp2 others(3): Show |
a0005 | a0005c0011a0005c0042 | a0005c0011t0007a0005c0011t0012a0005c0011t0022others(2): Show | a0005c0011t0007g0157a0005c0011t0012g0139a0005c0011t0022g0171others(3): Show | 6 | 238 | 0.0252 | -8 | c.172 others(27): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 20/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100918282 | GTCCACCC others(1): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01071.hp1 HG01081.hp2 others(7): Show |
a0001a0003a0004others(2): Show | a0001c0013a0001c0048a0003c0050others(3): Show | a0001c0013t0002a0001c0013t0005a0001c0048t0001others(4): Show | a0001c0013t0002g0116a0001c0013t0002g0122a0001c0013t0005g0114others(7): Show | 10 | 238 | 0.0420 | -8 | c.259 others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 2/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100940786 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | NA18941.hp2 NA18970.hp2 NA18993.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0017a0002c0010others(2): Show | a0001c0001t0018a0001c0017t0007a0002c0010t0002others(2): Show | a0001c0001t0018g0082a0001c0017t0007g0016a0002c0010t0002g0067others(2): Show | 5 | 238 | 0.0210 | -8 | c.80- others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100956214 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG02055.hp1 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0008others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0001g0137a0001c0001t0004g0177a0001c0001t0007g0166others(9): Show | 12 | 238 | 0.0504 | -8 | c.80- others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100956254 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01346.hp2 HG02004.hp1 |
a0001a0004 | a0001c0022a0004c0015 | a0001c0022t0001a0004c0015t0001 | a0001c0022t0001g0125a0004c0015t0001g0123a0004c0015t0001g0126 | 3 | 238 | 0.0126 | -8 | c.80- others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179136709 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01099.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0016a0001c0001t0027a0001c0001t0035others(1): Show | a0001c0001t0016g0158a0001c0001t0016g0188a0001c0001t0016g0189others(11): Show | 14 | 350 | 0.0400 | -8 | c.158 others(25): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179156882 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(29): Show | a0001c0001t0001g0144a0001c0001t0001g0146a0001c0001t0001g0149others(103): Show | 106 | 350 | 0.3029 | -8 | c.158 others(27): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179214519 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG01081.hp2 others(22): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0150a0001c0001t0001g0167a0001c0001t0001g0170others(22): Show | 25 | 350 | 0.0714 | -8 | c.157 others(27): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114434280 | AACACACA others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG01255.hp1 others(25): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0064a0001c0001t0082a0001c0001t0100others(13): Show | a0001c0001t0064g0051a0001c0001t0082g0179a0001c0001t0100g0246others(25): Show | 28 | 256 | 0.1094 | -8 | c.*19 others(19): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 23/23 | 1972 | chr10 | TogoVar | |||||
ABLIM1_chr10_114426112_114663275 | 114460323 | GGGCGCGG others(1): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02451.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008others(1): Show | a0001c0001t0156a0001c0001t0157a0001c0002t0012others(3): Show | a0001c0001t0156g0110a0001c0001t0157g0115a0001c0002t0012g0245others(4): Show | 7 | 256 | 0.0273 | -8 | c.144 others(27): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 12/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114512847 | GGAAGGAA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00733.hp1 others(38): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0004a0001c0001t0010a0001c0001t0016others(33): Show | a0001c0001t0004g0100a0001c0001t0004g0176a0001c0001t0010g0185others(38): Show | 41 | 256 | 0.1602 | -8 | c.895 others(27): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114536227 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01433.hp1 HG01978.hp2 others(7): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0003g0064a0001c0001t0004g0136a0001c0001t0007g0068others(7): Show | 10 | 256 | 0.0391 | -8 | c.894 others(25): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114583404 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02630.hp2 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0047a0001c0001t0087a0001c0001t0116others(2): Show | a0001c0001t0047g0162a0001c0001t0087g0019a0001c0001t0116g0114others(2): Show | 5 | 256 | 0.0195 | -8 | c.380 others(25): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114601049 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01952.hp1 HG01993.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0093a0001c0002t0003a0001c0002t0008others(12): Show | a0001c0001t0093g0146a0001c0002t0003g0151a0001c0002t0008g0131others(12): Show | 15 | 256 | 0.0586 | -8 | c.379 others(23): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114638622 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02071.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0001t0028a0001c0001t0105others(5): Show | a0001c0001t0007g0068a0001c0001t0028g0247a0001c0001t0105g0145others(5): Show | 8 | 256 | 0.0313 | -8 | c.244 others(27): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114649400 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(130): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(102): Show | a0001c0001t0001g0070a0001c0001t0001g0086a0001c0001t0001g0244others(130): Show | 133 | 256 | 0.5195 | -8 | c.244 others(25): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 7969730 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00642.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0030others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0020others(40): Show | 43 | 322 | 0.1335 | -8 | c.182 others(27): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8066360 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0014a0001c0001t0001g0042a0001c0001t0001g0087others(41): Show | 44 | 322 | 0.1367 | -8 | c.676 others(25): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 6/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8145745 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01099.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0027others(1): Show | a0001c0001t0001g0185a0001c0001t0002g0071a0001c0001t0002g0312others(4): Show | 7 | 322 | 0.0217 | -8 | c.10+ others(25): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149171922 | CTATTCTA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(134): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0036others(133): Show | 137 | 258 | 0.5310 | -8 | c.14- others(25): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ABLIM3_chr5_149136493_149265542 | 149179296 | CTGTTTGT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(132): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0029others(131): Show | 135 | 258 | 0.5233 | -8 | c.14- others(23): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ABLIM3_chr5_149136493_149265542 | 149225915 | TCATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(110): Show |
a0001 | a0001c0001a0001c0006a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0045others(109): Show | 113 | 258 | 0.4380 | -8 | c.758 others(25): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ABLIM3_chr5_149136493_149265542 | 149225982 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG01516.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0024a0001c0001t0001g0036others(6): Show | 9 | 258 | 0.0349 | -8 | c.758 others(25): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ABLIM3_chr5_149136493_149265542 | 149248859 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02615.hp2 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0019a0001c0001t0002g0073a0001c0001t0004g0074others(11): Show | 14 | 258 | 0.0543 | -8 | c.170 others(25): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ABRA_chr8_106754483_106775244 | 106764652 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01516.hp2 HG01517.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0017a0001c0001t0001g0022a0001c0001t0001g0029others(3): Show | 18 | 440 | 0.0409 | -8 | c.669 others(25): Show |
ABRA | ENSG00000174429.4 | transcript | ENST00000311955.4 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 999323 | CTATATAT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02895.hp1 NA19090.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0013a0001c0003t0012 | a0001c0001t0001g0124a0001c0001t0013g0028a0001c0003t0012g0119 | 3 | 337 | 0.0089 | -8 | c.*67 others(19): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 4195 | chr17 | TogoVar |