view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCG5_chr2_43807472_43843839 | 43839403 | CTTTTTTT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(113): Show |
a0001a0002a0008 | a0001c0001a0001c0010a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(80): Show |
116 | 119 | 0.9748 | -16 | c.-74 others(25): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43839403 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(105): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(36): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(97): Show |
108 | 109 | 0.9908 | -16 | c.63+ others(29): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25350959 | TCACACAC others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp1 others(32): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0002t0002g0166 a0001c0002t0002g0170 a0001c0002t0002g0171 others(31): Show |
35 | 65 | 0.5385 | -16 | c.192 others(35): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | CAAAAAAA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02809.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0003t0001g0001 |
6 | 53 | 0.1132 | -16 | c.*87 others(25): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1886552 | GATAAATA others(9): Show |
G | upstream_gene_variant | MODIFIER | NA19030.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0043 |
2 | 270 | 0.0074 | -16 | c.-14 others(27): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 1057 | chr19 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80713354 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 44 | 0.0227 | -16 | c.590 others(35): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80760325 | GTAAAAAT others(9): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0004g0005 others(40): Show |
44 | 358 | 0.1229 | -16 | c.*59 others(27): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 4705 | chr15 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127966702 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0264 a0001c0001t0025g0265 |
2 | 51 | 0.0392 | -16 | c.-18 others(33): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128039144 | CATATATA others(9): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19009.hp2 NA19086.hp2 |
a0002 | a0002c0002 | a0002c0002t0032 | a0002c0002t0032g0285 a0002c0002t0032g0293 |
2 | 41 | 0.0488 | -16 | c.*33 others(27): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3357 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89115370 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01169.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0072 a0001c0001t0001g0191 others(12): Show |
15 | 110 | 0.1364 | -16 | c.-6- others(29): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183380 | AAAAAATA others(9): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0011 | 1 | 209 | 0.0048 | -16 | c.723 others(33): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183382 | AAAATATA others(9): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02895.hp1 HG04228.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0010a0001c0002t0017a0001c0003t0015 | a0001c0001t0010g0137 a0001c0002t0017g0009 a0001c0003t0015g0193 |
3 | 171 | 0.0175 | -16 | c.723 others(33): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183384 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0034 | a0001c0001t0032g0228 a0001c0001t0034g0163 |
2 | 92 | 0.0217 | -16 | c.723 others(33): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205128 | TTCTCTCT others(9): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02486.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0015 | a0001c0001t0006g0164 a0001c0003t0015g0101 a0001c0003t0015g0193 others(1): Show |
4 | 51 | 0.0784 | -16 | c.*97 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | |||||||
ABHD6_chr3_58232792_58299734 | 58264387 | GCACACAC others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01175.hp1 others(32): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 others(29): Show |
35 | 88 | 0.3977 | -16 | c.120 others(33): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58264430 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 300 | 0.0033 | -16 | c.120 others(33): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17289410 | CAAATAAT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp1 HG02965.hp1 HG02976.hp1 others(1): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0002a0002c0002t0005a0002c0008t0002 | a0002c0002t0002g0024 a0002c0002t0002g0113 a0002c0002t0005g0025 others(1): Show |
4 | 258 | 0.0155 | -16 | c.*32 others(27): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2720 | chr19 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26818158 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0109 |
2 | 32 | 0.0625 | -16 | c.285 others(33): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26843477 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG02056.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009 | a0001c0001t0003g0320 a0001c0001t0003g0326 a0001c0001t0003g0327 others(18): Show |
21 | 341 | 0.0616 | -16 | c.117 others(35): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26843479 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0333 | 1 | 339 | 0.0029 | -16 | c.117 others(35): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203338947 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG00733.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0023 others(12): Show |
15 | 317 | 0.0473 | -16 | c.117 others(35): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203370186 | TTCTCTCT others(9): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0319 | 1 | 84 | 0.0119 | -16 | c.285 others(33): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100830106 | CATACATA others(9): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03471.hp2 NA19240.hp2 |
a0001a0006a0029 | a0001c0004a0006c0011a0029c0034 | a0001c0004t0009a0006c0011t0022a0029c0034t0030 | a0001c0004t0009g0191 a0006c0011t0022g0171 a0029c0034t0030g0044 |
3 | 175 | 0.0171 | -16 | c.245 others(33): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100830110 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG02071.hp2 HG02622.hp2 |
a0001a0019 | a0001c0001a0019c0053 | a0001c0001t0018a0019c0053t0002 | a0001c0001t0018g0047 a0019c0053t0002g0011 |
2 | 88 | 0.0227 | -16 | c.245 others(33): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100940786 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0098 | 1 | 203 | 0.0049 | -16 | c.80- others(33): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100950530 | AAGAAGGA others(9): Show |
A | intron_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0088 | 1 | 236 | 0.0042 | -16 | c.80- others(33): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100956214 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0045 | a0002c0045t0003 | a0002c0045t0003g0145 | 1 | 53 | 0.0189 | -16 | c.80- others(33): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100982175 | GGAGAAAC others(9): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(159): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0005others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0137 a0001c0001t0002g0065 a0001c0001t0002g0071 others(159): Show |
162 | 236 | 0.6864 | -16 | c.79+ others(33): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | |||||||
ABL1_chr9_130830254_130892675 | 130846095 | GTGTGTGT others(9): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01192.hp1 HG03017.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 a0001c0002t0001g0109 |
3 | 276 | 0.0109 | -16 | c.80- others(31): Show |
ABL1 | ENSG00000097007.20 | transcript | ENST00000318560.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ABL1_chr9_130830254_130892675 | 130859672 | CTTTCCTT others(9): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG01884.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(7): Show | a0001c0001t0001g0019 a0001c0001t0006g0018 a0001c0001t0008g0004 others(12): Show |
17 | 237 | 0.0717 | -16 | c.550 others(33): Show |
ABL1 | ENSG00000097007.20 | transcript | ENST00000318560.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ABL1_chr9_130830254_130892675 | 130886527 | TGGAGGCA others(9): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0026 | a0001c0026t0029 | a0001c0026t0029g0250 | 1 | 276 | 0.0036 | -16 | c.*85 others(25): Show |
ABL1 | ENSG00000097007.20 | transcript | ENST00000318560.6 | protein_coding | 11/11 | 853 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ABL2_chr1_179094330_179234677 | 179101996 | CTTTTTTT others(9): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02647.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0212 a0001c0001t0013g0218 |
2 | 35 | 0.0571 | -16 | c.*57 others(27): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 12/12 | 5706 | chr1 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179136709 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | NA18947.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 a0001c0001t0001g0182 |
2 | 85 | 0.0235 | -16 | c.158 others(33): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179156882 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(91): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(14): Show | a0001c0001t0001g0176 a0001c0001t0002g0031 a0001c0001t0002g0032 others(91): Show |
94 | 123 | 0.7642 | -16 | c.158 others(35): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114512839 | GGAAGGAA others(9): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG03130.hp1 HG04115.hp2 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0001c0001t0146a0002c0009t0090 | a0001c0001t0001g0081 a0001c0001t0146g0103 a0002c0009t0090g0010 |
3 | 254 | 0.0118 | -16 | c.895 others(35): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114512903 | GGAAGGAA others(9): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01255.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0244 a0001c0003t0001g0168 |
2 | 253 | 0.0079 | -16 | c.895 others(35): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114583404 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0245 | 1 | 221 | 0.0045 | -16 | c.380 others(33): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114583454 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0003 | a0001c0003t0131 | a0001c0003t0131g0173 | 1 | 214 | 0.0047 | -16 | c.380 others(33): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114583464 | CACACATA others(9): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0009 | a0002c0009t0063 | a0002c0009t0063g0144 | 1 | 165 | 0.0061 | -16 | c.380 others(33): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114601049 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02809.hp1 others(8): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0094a0001c0001t0108a0001c0001t0111others(8): Show | a0001c0001t0094g0242 a0001c0001t0108g0176 a0001c0001t0111g0150 others(8): Show |
11 | 13 | 0.8462 | -16 | c.379 others(31): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114638622 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0083a0001c0001t0087a0001c0002t0158others(1): Show | a0001c0001t0083g0017 a0001c0001t0087g0019 a0001c0002t0158g0014 others(1): Show |
4 | 24 | 0.1667 | -16 | c.244 others(35): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114649400 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp1 NA19240.hp1 |
a0001a0003a0008 | a0001c0001a0003c0008a0008c0018 | a0001c0001t0144a0003c0008t0012a0008c0018t0021 | a0001c0001t0144g0020 a0003c0008t0012g0139 a0008c0018t0021g0021 |
3 | 50 | 0.0600 | -16 | c.244 others(33): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8066360 | GGGAAGGA others(9): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01168.hp2 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0231 others(27): Show |
30 | 85 | 0.3529 | -16 | c.676 others(33): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 6/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8145745 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | NA20752.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0299 | 1 | 56 | 0.0179 | -16 | c.10+ others(33): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
ABLIM3_chr5_149136493_149265542 | 149208380 | CTCTCTCA others(9): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03098.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009 | a0001c0001t0002g0051 a0001c0001t0003g0245 a0001c0001t0009g0075 |
3 | 256 | 0.0117 | -16 | c.575 others(33): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149225976 | GTGTGTGT others(9): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG02976.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0006t0011 | a0001c0001t0003g0112 a0001c0001t0003g0119 a0001c0006t0011g0071 |
3 | 235 | 0.0128 | -16 | c.758 others(33): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149225978 | GTGTGTAT others(9): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0248 | 1 | 255 | 0.0039 | -16 | c.758 others(33): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149248859 | GACACACA others(9): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02559.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0005 | a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0069 others(8): Show |
11 | 51 | 0.2157 | -16 | c.170 others(33): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 999323 | CTATATAT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0034a0001c0001t0035others(2): Show | a0001c0001t0028g0121 a0001c0001t0028g0122 a0001c0001t0034g0002 others(3): Show |
6 | 74 | 0.0811 | -16 | c.*67 others(27): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 4195 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1036984 | TTTCCTTC others(9): Show |
T | intron_variant | MODIFIER | HG03017.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0078 | a0001c0001t0058g0165 a0001c0001t0078g0268 |
2 | 335 | 0.0060 | -16 | c.179 others(37): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar |