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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACO1_chr9_32379643_32459769 | 32445235 | CTGGTCCT others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0118 | 1 | 380 | 0.0026 | -21 | c.237 others(40): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54599164 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG00609.hp1 NA18953.hp1 |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0248 a0003c0003t0005g0320 |
2 | 385 | 0.0052 | -21 | c.765 others(36): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54599166 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01928.hp1 HG01993.hp1 others(18): Show |
a0003a0006 | a0003c0003a0003c0021a0006c0010 | a0003c0003t0005a0003c0003t0015a0003c0021t0005others(1): Show | a0003c0003t0005g0074 a0003c0003t0005g0134 a0003c0003t0005g0135 others(18): Show |
21 | 377 | 0.0557 | -21 | c.765 others(36): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54599168 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01255.hp2 NA18941.hp2 |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0132 a0003c0003t0005g0303 |
2 | 384 | 0.0052 | -21 | c.765 others(36): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54599170 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | NA18952.hp1 NA19088.hp2 |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0325 a0003c0003t0005g0327 |
2 | 384 | 0.0052 | -21 | c.765 others(36): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54599176 | AAAAAAAT others(14): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01934.hp1 HG02004.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003a0002c0002t0004 | a0001c0001t0003g0066 a0001c0001t0003g0130 a0002c0002t0003g0175 others(3): Show |
6 | 356 | 0.0169 | -21 | c.765 others(35): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54599178 | AAAAATAT others(14): Show |
A | intron_variant | MODIFIER | HG02148.hp1 NA18975.hp1 NA18985.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0006t0003 | a0001c0001t0003g0108 a0001c0001t0003g0111 a0001c0001t0003g0116 others(3): Show |
6 | 367 | 0.0163 | -21 | c.765 others(35): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54599180 | AAATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0072 | 1 | 364 | 0.0027 | -21 | c.765 others(35): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT12_chr5_81324996_81399134 | 81345093 | CCCTCCTT others(14): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0039 | 1 | 276 | 0.0036 | -21 | c.774 others(34): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 7/14 | chr5 | TogoVar | |||||||
ACOT12_chr5_81324996_81399134 | 81345100 | TGCACACC others(14): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(96): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0044 a0001c0001t0001g0113 a0001c0001t0001g0133 others(92): Show |
99 | 276 | 0.3587 | -21 | c.774 others(34): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 7/14 | chr5 | TogoVar | |||||||
ACOT12_chr5_81324996_81399134 | 81345103 | ACACCGCT others(14): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 | 1 | 276 | 0.0036 | -21 | c.774 others(34): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 7/14 | chr5 | TogoVar | |||||||
ACOT1_chr14_73532143_73548796 | 73535469 | CTTTTTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 104 | 0.0192 | -21 | c.-19 others(32): Show |
ACOT1 | ENSG00000184227.8 | transcript | ENST00000311148.9 | protein_coding | 1673 | chr14 | TogoVar | |||||||
ACOT7_chr1_6259272_6398767 | 6271603 | GTCCGCCA others(14): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0003g0186 a0001c0001t0006g0202 a0001c0001t0006g0204 others(3): Show |
6 | 238 | 0.0252 | -21 | c.101 others(40): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510652 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0040 | 1 | 360 | 0.0028 | -21 | c.185 others(40): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACP2_chr11_47234302_47253814 | 47253019 | TGCAATCA others(14): Show |
T | upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 356 | 0.0028 | -21 | c.-42 others(32): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 4206 | chr11 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6184832 | GAAAAAAA others(14): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02723.hp1 others(1): Show |
a0002a0014a0015 | a0002c0002a0014c0023a0015c0021 | a0002c0002t0001a0014c0023t0001a0015c0021t0001 | a0002c0002t0001g0072 a0002c0002t0001g0103 a0014c0023t0001g0202 others(1): Show |
4 | 65 | 0.0615 | -21 | c.132 others(38): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89096984 | TTGAGTTT others(14): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG03225.hp1 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0034 a0002c0003t0005g0035 |
2 | 366 | 0.0055 | -21 | c.-19 others(40): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20627902 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 316 | 0.0032 | -21 | c.130 others(38): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20685826 | AAAAAACA others(14): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00673.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0002g0024 a0001c0001t0002g0212 a0001c0001t0002g0213 others(30): Show |
33 | 316 | 0.1044 | -21 | c.193 others(36): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSM4_chr12_7299072_7333719 | 7327729 | TTCACTAA others(14): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 2 | 428 | 0.0047 | -21 | c.165 others(38): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17776969 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 48 | 0.0208 | -21 | c.-25 others(40): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38728410 | GCTCCTCC others(14): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02055.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0002a0003c0009t0002 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(16): Show |
19 | 197 | 0.0964 | -21 | c.241 others(38): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38736455 | CCCCCAGG others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01123.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0005 | a0001c0004t0001g0241 a0001c0004t0005g0096 a0001c0004t0005g0230 others(3): Show |
6 | 310 | 0.0194 | -21 | c.*70 others(32): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4867 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38736467 | TTTGACCA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(147): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0087 a0001c0001t0002g0080 a0001c0001t0002g0081 others(145): Show |
150 | 276 | 0.5435 | -21 | c.*70 others(32): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4879 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38736507 | AGGTTGAC others(14): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp2 NA18970.hp1 NA19010.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0002t0001a0001c0005t0001 | a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0002t0001g0022 others(1): Show |
4 | 311 | 0.0129 | -21 | c.*70 others(32): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4919 | chr19 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97659551 | CCCTCACC others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(115): Show |
a0001a0003a0004 | a0001c0002a0001c0007a0003c0004others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(3): Show | a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0013 others(15): Show |
118 | 396 | 0.2980 | -21 | c.190 others(34): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113912917 | GACCTTGA others(14): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(139): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 others(132): Show |
142 | 388 | 0.3660 | -21 | c.45- others(34): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVRL1_chr12_51902504_51928361 | 51914179 | TCAGAATT others(14): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(61): Show |
a0001a0003a0004 | a0001c0001a0001c0011a0003c0007others(1): Show | a0001c0001t0003a0001c0001t0017a0001c0001t0025others(3): Show | a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0035 others(19): Show |
64 | 436 | 0.1468 | -21 | c.625 others(36): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACY1_chr3_51978535_51994197 | 51981894 | CAAAAAAA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG01074.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(1): Show |
18 | 61 | 0.2951 | -21 | c.-17 others(32): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1640 | chr3 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54266590 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0231 | 1 | 6 | 0.1667 | -21 | c.405 others(40): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17206390 | GAGGCTGC others(14): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(181): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0035 others(177): Show |
184 | 406 | 0.4532 | -21 | c.542 others(36): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3/9 | chr22 | TogoVar | |||||||
ADAD1_chr4_122374011_122434784 | 122378285 | CAAAAAAA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01106.hp2 HG01257.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0038 others(11): Show |
18 | 22 | 0.8182 | -21 | c.-91 others(30): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 725 | chr4 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTTTT others(14): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG02258.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0060 | a0001c0001t0041g0038 a0001c0001t0041g0041 a0001c0001t0060g0294 |
3 | 7 | 0.4286 | -21 | c.*43 others(32): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4377 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58637526 | CAATTACC others(14): Show |
C | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0313 | 1 | 340 | 0.0029 | -21 | c.101 others(40): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 8/15 | chr15 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126086671 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02886.hp2 HG02970.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0002a0001c0002t0016a0001c0004t0010others(1): Show | a0001c0002t0002g0203 a0001c0002t0016g0014 a0001c0004t0010g0199 others(1): Show |
4 | 250 | 0.0160 | -21 | c.114 others(40): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM28_chr8_24289069_24364014 | 24308356 | ATCTTTCC others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(57): Show |
a0001a0003a0005others(2): Show | a0001c0002a0001c0034a0003c0006others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(12): Show | a0001c0002t0001g0003 a0001c0002t0001g0038 a0001c0002t0001g0280 others(48): Show |
60 | 346 | 0.1734 | -21 | c.151 others(38): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33849082 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG02896.hp1 NA19043.hp1 |
a0001a0002 | a0001c0027a0002c0004a0002c0026 | a0001c0027t0004a0002c0004t0002a0002c0026t0002 | a0001c0027t0004g0026 a0002c0004t0002g0219 a0002c0026t0002g0160 |
3 | 221 | 0.0136 | -21 | c.489 others(40): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33849591 | CATATGTA others(14): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02258.hp2 others(5): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0010c0052others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(3): Show | a0001c0001t0001g0197 a0001c0001t0003g0198 a0001c0001t0015g0045 others(5): Show |
8 | 146 | 0.0548 | -21 | c.489 others(40): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99977373 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0005 | a0005c0039 | a0005c0039t0005 | a0005c0039t0005g0132 | 1 | 225 | 0.0044 | -21 | c.295 others(40): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99977375 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG03239.hp1 NA18993.hp1 |
a0002 | a0002c0001a0002c0011 | a0002c0001t0061a0002c0011t0063 | a0002c0001t0061g0141 a0002c0011t0063g0053 |
2 | 226 | 0.0088 | -21 | c.295 others(40): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99977377 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01981.hp1 HG01981.hp2 others(9): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0007a0001c0017others(6): Show | a0001c0002t0005a0001c0007t0018a0001c0017t0002others(8): Show | a0001c0002t0005g0081 a0001c0002t0005g0158 a0001c0007t0018g0046 others(9): Show |
12 | 222 | 0.0541 | -21 | c.295 others(40): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99977379 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01071.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0005a0001c0010others(8): Show | a0001c0002t0066a0001c0005t0072a0001c0010t0011others(9): Show | a0001c0002t0066g0213 a0001c0005t0072g0133 a0001c0010t0011g0117 others(9): Show |
12 | 203 | 0.0591 | -21 | c.295 others(40): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100276451 | GGTGGGTG others(14): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG03688.hp1 |
a0002 | a0002c0061a0002c0072 | a0002c0061t0011a0002c0072t0050 | a0002c0061t0011g0091 a0002c0072t0050g0183 |
2 | 201 | 0.0100 | -21 | c.789 others(38): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77400460 | GTGTGTGT others(14): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0003 | a0004c0003t0012 | a0004c0003t0012g0136 | 1 | 322 | 0.0031 | -21 | c.495 others(40): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43405417 | CTAATAAT others(14): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 46 | 0.0217 | -21 | c.428 others(40): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43494724 | GAATTTAC others(14): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02451.hp1 others(2): Show |
a0004a0013 | a0004c0007a0013c0030 | a0004c0007t0001a0013c0030t0001 | a0004c0007t0001g0076 a0004c0007t0001g0152 a0004c0007t0001g0153 others(2): Show |
5 | 304 | 0.0164 | -21 | c.868 others(38): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43514560 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0151 | 1 | 4 | 0.2500 | -21 | c.614 others(40): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277750 | GAGACCAA others(14): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03225.hp1 |
a0002 | a0002c0039a0002c0097 | a0002c0039t0007a0002c0097t0021 | a0002c0039t0007g0210 a0002c0097t0021g0227 |
2 | 274 | 0.0073 | -21 | c.535 others(38): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179331290 | AGAAAAGG others(14): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0259 | 1 | 274 | 0.0036 | -21 | c.534 others(40): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72450991 | GAAGAGAA others(14): Show |
G | intron_variant | MODIFIER | HG02071.hp2 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0157 | 1 | 180 | 0.0056 | -21 | c.505 others(40): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar |