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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACO1_chr9_32379643_32459769 | 32445235 | CTGGTCCT others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0118 | 1 | 382 | 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 | a0003c0003t0005g0265a0003c0003t0005g0320 | 2 | 388 | 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 |
a0003a0007 | a0003c0003a0003c0027a0007c0014 | a0003c0003t0005a0003c0003t0015a0003c0027t0005others(1): Show | a0003c0003t0005g0071a0003c0003t0005g0132a0003c0003t0005g0134others(18): Show | 21 | 388 | 0.0541 | -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 | a0003c0003t0005g0130a0003c0003t0005g0303 | 2 | 388 | 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 | a0003c0003t0005g0325a0003c0003t0005g0327 | 2 | 388 | 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 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0003a0002c0002t0004a0005c0005t0003 | a0002c0002t0003g0175a0002c0002t0004g0099a0002c0002t0004g0105others(3): Show | 6 | 388 | 0.0155 | -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 |
a0005 | a0005c0005a0005c0011 | a0005c0005t0003a0005c0011t0003 | a0005c0005t0003g0106a0005c0005t0003g0109a0005c0005t0003g0113others(3): Show | 6 | 388 | 0.0155 | -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 | a0005 | a0005c0011 | a0005c0011t0003 | a0005c0011t0003g0070 | 1 | 388 | 0.0026 | -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 | a0001c0007t0004g0036 | 1 | 278 | 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 |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0042a0001c0001t0001g0109a0001c0001t0001g0131others(93): Show | 99 | 278 | 0.3561 | -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 | a0001c0001t0003g0234 | 1 | 278 | 0.0036 | -21 | c.774 others(34): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 7/14 | chr5 | 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 | a0001c0001t0003g0186a0001c0001t0006g0201a0001c0001t0006g0203others(3): Show | 6 | 240 | 0.0250 | -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 | a0003c0010t0001g0259 | 1 | 364 | 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 | 358 | 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 |
a0002a0012a0014 | a0002c0002a0012c0021a0014c0023 | a0002c0002t0001a0012c0021t0001a0014c0023t0001 | a0002c0002t0001g0072a0002c0002t0001g0103a0012c0021t0001g0100others(1): Show | 4 | 262 | 0.0153 | -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 | a0002c0003t0005g0029a0002c0003t0005g0030 | 2 | 368 | 0.0054 | -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 | a0001c0002t0001g0042 | 1 | 318 | 0.0031 | -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 | a0001c0001t0002g0025a0001c0001t0002g0215a0001c0001t0002g0216others(30): Show | 33 | 318 | 0.1038 | -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 | 430 | 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 | 366 | 0.0027 | -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 | a0001c0001t0002g0079a0001c0001t0002g0080a0001c0001t0002g0081others(16): Show | 19 | 314 | 0.0605 | -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 | a0001c0004t0005a0001c0004t0013 | a0001c0004t0005g0095a0001c0004t0005g0230a0001c0004t0005g0240others(3): Show | 6 | 314 | 0.0191 | -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(148): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0086a0001c0001t0002g0079a0001c0001t0002g0080others(147): Show | 151 | 314 | 0.4809 | -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 | a0001c0001t0004a0001c0002t0001a0001c0005t0001 | a0001c0001t0004g0265a0001c0001t0004g0266a0001c0002t0001g0021others(1): Show | 4 | 314 | 0.0127 | -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 | a0001c0002t0002g0002a0001c0002t0002g0008a0001c0002t0002g0014others(15): Show | 118 | 398 | 0.2965 | -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 | a0001c0001t0001g0007a0001c0001t0001g0020a0001c0001t0001g0021others(132): Show | 142 | 390 | 0.3641 | -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 |
a0001a0002a0003 | a0001c0001a0001c0011a0002c0007others(1): Show | a0001c0001t0003a0001c0001t0017a0001c0001t0025others(3): Show | a0001c0001t0003g0002a0001c0001t0003g0010a0001c0001t0003g0035others(19): Show | 64 | 438 | 0.1461 | -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 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(1): Show | 18 | 338 | 0.0533 | -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 | a0001c0001t0004g0195 | 1 | 272 | 0.0037 | -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(182): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(64): Show | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0061others(181): Show | 185 | 408 | 0.4534 | -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 | a0001c0001t0001g0014a0001c0001t0001g0029a0001c0001t0001g0037others(11): Show | 18 | 376 | 0.0479 | -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 | a0001c0001t0041a0001c0001t0061 | a0001c0001t0041g0037a0001c0001t0041g0040a0001c0001t0061g0294 | 3 | 342 | 0.0088 | -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 | a0001c0001t0013g0314 | 1 | 342 | 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 | a0001c0002t0002a0001c0002t0020a0001c0004t0011others(1): Show | a0001c0002t0002g0186a0001c0002t0020g0018a0001c0004t0011g0177others(1): Show | 4 | 252 | 0.0159 | -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 | a0001c0002t0001g0027a0001c0002t0001g0281a0001c0002t0001g0283others(55): Show | 60 | 348 | 0.1724 | -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 | a0001c0027t0004g0026a0002c0004t0002g0219a0002c0026t0002g0160 | 3 | 224 | 0.0134 | -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 |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0052others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(3): Show | a0001c0001t0001g0196a0001c0001t0003g0198a0001c0001t0015g0044others(5): Show | 8 | 224 | 0.0357 | -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 | a0005c0040 | a0005c0040t0004 | a0005c0040t0004g0132 | 1 | 228 | 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 | a0002c0001t0062a0002c0011t0063 | a0002c0001t0062g0141a0002c0011t0063g0053 | 2 | 228 | 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 | a0001c0002t0004a0001c0007t0018a0001c0017t0002others(8): Show | a0001c0002t0004g0081a0001c0002t0004g0158a0001c0007t0018g0046others(9): Show | 12 | 228 | 0.0526 | -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 | a0001c0002t0066g0213a0001c0005t0072g0133a0001c0010t0011g0117others(9): Show | 12 | 228 | 0.0526 | -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 | a0002c0062a0002c0073 | a0002c0062t0011a0002c0073t0051 | a0002c0062t0011g0091a0002c0073t0051g0183 | 2 | 228 | 0.0088 | -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 | 326 | 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 | a0001c0001t0001g0165 | 1 | 306 | 0.0033 | -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 |
a0003a0010 | a0003c0007a0010c0030 | a0003c0007t0001a0010c0030t0001 | a0003c0007t0001g0076a0003c0007t0001g0152a0003c0007t0001g0153others(2): Show | 5 | 306 | 0.0163 | -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 | 306 | 0.0033 | -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 |
a0003a0004 | a0003c0097a0004c0039 | a0003c0097t0021a0004c0039t0007 | a0003c0097t0021g0227a0004c0039t0007g0208 | 2 | 276 | 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 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0261 | 1 | 276 | 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 | a0004 | a0004c0010 | a0004c0010t0003 | a0004c0010t0003g0039 | 1 | 182 | 0.0055 | -21 | c.505 others(40): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550042 | AGAGGAAG others(14): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 182 | 0.0055 | -21 | c.98- others(36): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar |