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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN4_chr19_38642649_38736589 | 38730086 | GAACCAAA others(33): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0084 | 1 | 314 | 0.0032 | -40 | c.*67 others(49): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 21/21 | 671 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
ACTN4_chr19_38642649_38736589 | 38735670 | CGCGGGGC others(33): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00741.hp2 others(27): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0002g0002a0001c0001t0002g0100a0001c0001t0002g0104others(27): Show | 30 | 314 | 0.0955 | -40 | c.*62 others(51): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4082 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735797 | CGGGGCGG others(33): Show |
C | downstream_gene_variant | MODIFIER | HG03669.hp2 HG04115.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0034 | a0001c0002t0001g0033a0001c0002t0034g0045 | 2 | 314 | 0.0064 | -40 | c.*63 others(51): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4209 | chr19 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157826697 | GAAGGAAA others(33): Show |
G | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG03579.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0077a0001c0002t0001g0124a0001c0002t0002g0084others(3): Show | 6 | 174 | 0.0345 | -40 | c.-18 others(59): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38492731 | TACACACA others(33): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0096 | a0001c0002t0096g0001 | 1 | 410 | 0.0024 | -40 | c.*94 others(51): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9433 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACYP2_chr2_53966113_54310300 | 54197935 | ATGTATTA others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01175.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0004g0158a0001c0001t0004g0238a0001c0002t0002g0048others(4): Show | 7 | 272 | 0.0257 | -40 | c.404 others(59): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54197942 | ATATTGTA others(33): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02970.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0061a0001c0002t0003g0109a0001c0002t0003g0110others(1): Show | 4 | 272 | 0.0147 | -40 | c.404 others(59): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM8_chr10_133257423_133281868 | 133264989 | TTCCTGCT others(33): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 386 | 0.0026 | -40 | c.232 others(59): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 21/22 | chr10 | TogoVar | ||||||
ADAM8_chr10_133257423_133281868 | 133265257 | GCCACGCC others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(317): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0007others(29): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(140): Show | 320 | 386 | 0.8290 | -40 | c.232 others(59): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 21/22 | chr10 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8611229 | GAGGGGCT others(33): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01978.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0261a0001c0002t0001g0136 | 2 | 384 | 0.0052 | -40 | c.-84 others(49): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 515 | chr19 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100339564 | CCCACATT others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(39): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0007a0001c0017others(23): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(35): Show | a0001c0002t0002g0063a0001c0002t0004g0158a0001c0002t0005g0148others(39): Show | 42 | 228 | 0.1842 | -40 | c.450 others(57): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 2/21 | chr15 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179134759 | TCCAGCTC others(33): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0032 | a0032c0045 | a0032c0045t0003 | a0032c0045t0003g0171 | 1 | 276 | 0.0036 | -40 | c.208 others(59): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179134776 | TCCCCCAG others(33): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0042 | a0002c0042t0001 | a0002c0042t0001g0145 | 1 | 276 | 0.0036 | -40 | c.208 others(59): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179134852 | TCCAGCTC others(33): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0030 | a0030c0085 | a0030c0085t0002 | a0030c0085t0002g0202 | 1 | 276 | 0.0036 | -40 | c.208 others(59): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179331396 | TGGAGGGA others(33): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(28): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0022a0001c0034others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0100a0001c0001t0002g0105a0001c0001t0004g0081others(28): Show | 31 | 276 | 0.1123 | -40 | c.534 others(59): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83714864 | CCCTCCCT others(33): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00735.hp1 others(30): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0060a0003c0003others(6): Show | a0001c0001t0001a0002c0060t0001a0003c0003t0001others(6): Show | a0001c0001t0001g0264a0002c0060t0001g0245a0003c0003t0001g0176others(30): Show | 33 | 274 | 0.1204 | -40 | c.189 others(59): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83714868 | CCCTCCCT others(33): Show |
C | intron_variant | MODIFIER | HG03579.hp2 NA18947.hp1 NA19084.hp2 |
a0004a0012 | a0004c0004a0012c0035 | a0004c0004t0001a0012c0035t0001 | a0004c0004t0001g0253a0004c0004t0001g0254a0012c0035t0001g0127 | 3 | 274 | 0.0110 | -40 | c.189 others(59): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83822250 | TGGGCGGA others(33): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00733.hp2 others(48): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0020a0002c0045others(11): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(14): Show | a0002c0002t0001g0012a0002c0002t0001g0013a0002c0002t0001g0021others(48): Show | 51 | 274 | 0.1861 | -40 | c.600 others(57): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83822411 | GGGCGGAG others(33): Show |
G | intron_variant | MODIFIER | NA18968.hp1 NA19010.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0152a0002c0002t0001g0160 | 2 | 274 | 0.0073 | -40 | c.600 others(57): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83822481 | GGCGGCCG others(33): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG02145.hp1 HG02280.hp1 others(15): Show |
a0001a0002a0007others(6): Show | a0001c0001a0002c0008a0002c0016others(8): Show | a0001c0001t0001a0002c0008t0001a0002c0016t0001others(9): Show | a0001c0001t0001g0053a0002c0008t0001g0115a0002c0008t0001g0239others(15): Show | 18 | 274 | 0.0657 | -40 | c.600 others(57): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83822614 | GCTCCTCA others(33): Show |
G | intron_variant | MODIFIER | NA19012.hp1 | a0014 | a0014c0019 | a0014c0019t0001 | a0014c0019t0001g0050 | 1 | 274 | 0.0037 | -40 | c.600 others(57): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 84036357 | TTTTGAGC others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0108 | 1 | 274 | 0.0037 | -40 | c.475 others(57): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 28/29 | chr15 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144397048 | TGGGAAGG others(33): Show |
T | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 346 | 0.0029 | -40 | c.*39 others(51): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 3807 | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144397068 | AGGGAGAT others(33): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0203 | 1 | 346 | 0.0029 | -40 | c.*39 others(51): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 3827 | chr8 | TogoVar | ||||||
ADCY3_chr2_24814169_24925237 | 24922414 | TGGTGGCG others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02622.hp2 NA20129.hp2 |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0261a0001c0006t0007g0262a0001c0006t0007g0263 | 3 | 272 | 0.0110 | -40 | c.-29 others(51): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 2178 | chr2 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123396755 | AAGGAAGG others(33): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 260 | 0.0039 | -40 | c.113 others(61): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142548247 | GAGGATGG others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(97): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(33): Show | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0034others(97): Show | 100 | 310 | 0.3226 | -40 | c.*38 others(51): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 3241 | chr8 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69031037 | CTCTCTTC others(33): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0025a0002c0005t0002g0026 | 2 | 120 | 0.0167 | -40 | c.210 others(61): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 69333936 | CAAAATAA others(33): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01433.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0059a0001c0001t0001g0097others(10): Show | 13 | 120 | 0.1083 | -40 | c.318 others(58): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 24/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRD1_chr12_130948907_131146469 | 130997372 | TGGCTGCC others(33): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00738.hp1 others(77): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(43): Show | a0001c0001t0001g0111a0001c0001t0001g0113a0001c0001t0001g0212others(77): Show | 80 | 242 | 0.3306 | -40 | c.967 others(57): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ADGRG2_chrX_18984307_19127468 | 19059588 | AAGTAGTA others(33): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03041.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0009 | a0002c0002t0002g0170a0002c0002t0009g0016 | 2 | 188 | 0.0106 | -40 | c.118 others(57): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 3/28 | chrX | TogoVar | ||||||
ADGRG2_chrX_18984307_19127468 | 19059675 | ACTAAAGA others(33): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00642.hp1 others(54): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0008 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(54): Show | 57 | 188 | 0.3032 | -40 | c.118 others(57): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 3/28 | chrX | TogoVar | ||||||
ADGRG7_chr3_100604601_100700479 | 100605853 | TTCCTTCC others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0011 | 1 | 340 | 0.0029 | -40 | c.-40 others(51): Show |
ADGRG7 | ENSG00000144820.8 | transcript | ENST00000273352.8 | protein_coding | 3747 | chr3 | TogoVar | ||||||
ADGRG7_chr3_100604601_100700479 | 100605884 | CCTTCCTT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG01943.hp2 HG02698.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0227a0003c0003t0001g0251 | 2 | 340 | 0.0059 | -40 | c.-39 others(51): Show |
ADGRG7 | ENSG00000144820.8 | transcript | ENST00000273352.8 | protein_coding | 3716 | chr3 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61432573 | CCTTTCTT others(33): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0031 | 1 | 58 | 0.0172 | -40 | c.-17 others(61): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADI1_chr2_3492366_3524531 | 3503308 | GACACGCA others(33): Show |
G | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 392 | 0.0026 | -40 | c.241 others(57): Show |
ADI1 | ENSG00000182551.14 | transcript | ENST00000327435.11 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74300271 | CTTCCTTC others(33): Show |
C | intron_variant | MODIFIER | HG01934.hp2 HG02004.hp1 HG02273.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0008a0001c0001t0001g0022a0001c0001t0001g0023others(5): Show | 8 | 200 | 0.0400 | -40 | c.195 others(59): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AFAP1L2_chr10_114289824_114409502 | 114360485 | CTAGATAG others(33): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0238 | 1 | 262 | 0.0038 | -40 | c.17- others(57): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 1/18 | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7756520 | TGACCCGA others(33): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00639.hp1 others(37): Show |
a0001a0002a0004 | a0001c0002a0001c0007a0001c0017others(3): Show | a0001c0002t0003a0001c0002t0022a0001c0002t0028others(8): Show | a0001c0002t0003g0029a0001c0002t0003g0044a0001c0002t0003g0098others(37): Show | 40 | 318 | 0.1258 | -40 | c.*72 others(51): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 2193 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7840261 | GATGTGTG others(33): Show |
G | intron_variant | MODIFIER | HG02145.hp2 NA20300.hp1 |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0271a0001c0004t0007g0309 | 2 | 318 | 0.0063 | -40 | c.547 others(57): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 5/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7840265 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG01261.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0069a0001c0004t0006others(6): Show | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0002t0069g0265others(13): Show | 16 | 318 | 0.0503 | -40 | c.547 others(57): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 5/17 | chr4 | TogoVar | ||||||
AFF1_chr4_86930011_87146039 | 86995957 | GGCCGCCC others(33): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01069.hp1 others(14): Show |
a0001a0015 | a0001c0001a0001c0010a0015c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0077a0001c0001t0002g0072a0001c0001t0006g0073others(14): Show | 17 | 294 | 0.0578 | -40 | c.38+ others(57): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148773681 | GGAAGGAA others(33): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0153 | 1 | 169 | 0.0059 | -40 | c.104 others(61): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148897233 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | NA19066.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0002g0020 | 2 | 169 | 0.0118 | -40 | c.136 others(59): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF3_chr2_99540419_100147590 | 99626446 | CCTTCCCC others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00639.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0020a0001c0001t0002g0036a0001c0001t0004g0041others(18): Show | 21 | 100 | 0.2100 | -40 | c.118 others(61): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 100037540 | ATATTTAT others(33): Show |
A | intron_variant | MODIFIER | HG02976.hp2 NA20300.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0006 | a0001c0001t0001g0023a0003c0006t0006g0052 | 2 | 100 | 0.0200 | -40 | c.54- others(57): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235525294 | GATACATA others(33): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01928.hp2 HG02080.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(18): Show | a0001c0001t0005g0012a0001c0001t0007g0008a0001c0001t0008g0069others(19): Show | 22 | 98 | 0.2245 | -40 | c.163 others(59): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86636720 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 132 | 0.0076 | -40 | c.299 others(61): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86636722 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0094 | 1 | 132 | 0.0076 | -40 | c.299 others(61): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGMO_chr7_15195317_15567015 | 15198234 | AGAGAGAG others(33): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0124 | 2 | 236 | 0.0085 | -40 | c.*30 others(51): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 2082 | chr7 | TogoVar |