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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNASE1_chr16_3649691_3663095 | 3653806 | CAAAAAAA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02886.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0010 | 3 | 440 | 0.0068 | -21 | c.-12 others(32): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 884 | chr16 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229630479 | AAATAATA others(14): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0163 | 1 | 176 | 0.0057 | -21 | c.277 others(40): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNMBP_chr10_99870577_100014947 | 99910614 | AGGCAGGG others(14): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01516.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0168a0001c0009t0005g0236a0001c0009t0005g0251others(4): Show | 7 | 274 | 0.0256 | -21 | c.226 others(40): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 4/16 | chr10 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25228200 | TAAAAAAA others(14): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18957.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0200a0001c0002t0142 | a0001c0001t0200g0216a0001c0002t0142g0235 | 2 | 294 | 0.0068 | -21 | c.*60 others(32): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 23/23 | 6058 | chr2 | TogoVar | |||||
DNMT3B_chr20_32757385_32814356 | 32813177 | GTGAGCCA others(14): Show |
G | downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 298 | 0.0034 | -21 | c.*52 others(32): Show |
DNMT3B | ENSG00000088305.19 | transcript | ENST00000328111.6 | protein_coding | 3822 | chr20 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 224876267 | AGCCTTCG others(14): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 172 | 0.0058 | -21 | c.748 others(34): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 7/55 | chr2 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 224877424 | TAATAGGT others(14): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00621.hp2 others(39): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(25): Show | a0001c0001t0001g0074a0001c0001t0001g0164a0001c0001t0004g0017others(39): Show | 42 | 172 | 0.2442 | -21 | c.748 others(38): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 7/55 | chr2 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126963615 | CTTCCCTT others(14): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0123 | 1 | 136 | 0.0074 | -21 | c.47- others(36): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 127093197 | TTTTTCTT others(14): Show |
T | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 136 | 0.0074 | -21 | c.244 others(42): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 23/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 127164159 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02683.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0010a0003c0003others(1): Show | a0001c0001t0003a0002c0010t0005a0003c0003t0003others(1): Show | a0001c0001t0003g0050a0002c0010t0005g0083a0003c0003t0003g0014others(1): Show | 4 | 136 | 0.0294 | -21 | c.284 others(42): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK2_chr5_169632275_170088382 | 169853804 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01981.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0007a0001c0026a0001c0037others(2): Show | a0001c0007t0002a0001c0026t0003a0001c0037t0001others(2): Show | a0001c0007t0002g0134a0001c0007t0002g0161a0001c0026t0003g0042others(3): Show | 6 | 184 | 0.0326 | -21 | c.279 others(42): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DOCK3_chr3_50669927_51389198 | 50869342 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | NA18906.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0155a0001c0001t0008g0123 | 2 | 212 | 0.0094 | -21 | c.163 others(40): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DOCK5_chr8_25179689_25420711 | 25197110 | TACTCTCC others(14): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(81): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(63): Show | a0001c0001t0001g0069a0001c0001t0001g0077a0001c0001t0001g0095others(81): Show | 84 | 210 | 0.4000 | -21 | c.43+ others(38): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DOCK7_chr1_62449726_62693386 | 62483174 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG01070.hp1 others(39): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0002g0034a0001c0002t0001g0091a0001c0002t0002g0010others(39): Show | 42 | 228 | 0.1842 | -21 | c.550 others(40): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 43/49 | chr1 | TogoVar | ||||||
DOCK7_chr1_62449726_62693386 | 62553340 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 228 | 0.0044 | -21 | c.259 others(38): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 21/49 | chr1 | TogoVar | ||||||
DOCK7_chr1_62449726_62693386 | 62553342 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 228 | 0.0044 | -21 | c.259 others(38): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 21/49 | chr1 | TogoVar | ||||||
DOCK7_chr1_62449726_62693386 | 62553344 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02257.hp1 HG03710.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0196a0001c0001t0001g0200others(2): Show | 5 | 228 | 0.0219 | -21 | c.259 others(38): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 21/49 | chr1 | TogoVar | ||||||
DOCK7_chr1_62449726_62693386 | 62553346 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG01978.hp1 HG02293.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0090a0001c0001t0001g0138others(7): Show | 10 | 228 | 0.0439 | -21 | c.259 others(38): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 21/49 | chr1 | TogoVar | ||||||
DOCK7_chr1_62449726_62693386 | 62553348 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp1 HG01243.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0089a0001c0001t0001g0111a0001c0001t0001g0147others(7): Show | 10 | 228 | 0.0439 | -21 | c.259 others(38): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 21/49 | chr1 | TogoVar | ||||||
DOCK7_chr1_62449726_62693386 | 62553350 | ATATATTT others(14): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG02897.hp1 HG03225.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0002c0003t0001 | a0001c0001t0001g0180a0001c0001t0001g0187a0001c0001t0001g0207others(3): Show | 6 | 228 | 0.0263 | -21 | c.259 others(38): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 21/49 | chr1 | TogoVar | ||||||
DOCK7_chr1_62449726_62693386 | 62553352 | ATATTTTT others(14): Show |
A | intron_variant | MODIFIER | HG01517.hp1 HG01934.hp1 HG01952.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0152a0001c0001t0001g0169others(2): Show | 5 | 228 | 0.0219 | -21 | c.259 others(38): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 21/49 | chr1 | TogoVar | ||||||
DOCK7_chr1_62449726_62693386 | 62553354 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG01496.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0167a0001c0002t0001g0164 | 2 | 228 | 0.0088 | -21 | c.259 others(38): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 21/49 | chr1 | TogoVar | ||||||
DOCK7_chr1_62449726_62693386 | 62563863 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0054 | 1 | 228 | 0.0044 | -21 | c.211 others(40): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 18/49 | chr1 | TogoVar | ||||||
DOCK7_chr1_62449726_62693386 | 62660813 | ATTAAATC others(14): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 228 | 0.0044 | -21 | c.144 others(38): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 2/49 | chr1 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 307329 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(81): Show |
a0001a0002a0003others(17): Show | a0001c0002a0001c0003a0001c0014others(39): Show | a0001c0002t0001a0001c0003t0001a0001c0014t0001others(42): Show | a0001c0002t0001g0041a0001c0002t0001g0042a0001c0002t0001g0043others(81): Show | 84 | 256 | 0.3281 | -21 | c.528 others(38): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOK6_chr18_69395888_69854087 | 69493476 | ACAAACTC others(14): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0090 | a0001c0003t0090g0027 | 1 | 170 | 0.0059 | -21 | c.67- others(38): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DOK6_chr18_69395888_69854087 | 69712306 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0003t0032a0001c0003t0106 | a0001c0001t0014g0148a0001c0003t0032g0044a0001c0003t0106g0004 | 3 | 170 | 0.0177 | -21 | c.599 others(40): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 5/7 | chr18 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3490811 | TCATTCAT others(14): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01099.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0016others(2): Show | a0001c0001t0005g0038a0001c0001t0005g0046a0001c0001t0005g0112others(16): Show | 20 | 404 | 0.0495 | -21 | c.772 others(38): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DOK7_chr4_3458306_3499482 | 3490823 | GCCTTCCC others(14): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01106.hp1 others(22): Show |
a0001a0004a0010 | a0001c0001a0004c0007a0010c0013 | a0001c0001t0002a0004c0007t0022a0010c0013t0024others(1): Show | a0001c0001t0002g0005a0001c0001t0002g0011a0001c0001t0002g0016others(19): Show | 25 | 404 | 0.0619 | -21 | c.772 others(38): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DONSON_chr21_33572551_33593684 | 33577680 | CACACACA others(14): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0180 | 1 | 426 | 0.0024 | -21 | c.*60 others(30): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 606 | chr21 | TogoVar | |||||
DONSON_chr21_33572551_33593684 | 33577681 | ACACACAC others(14): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0126 | a0001c0001t0126g0155 | 1 | 426 | 0.0024 | -21 | c.*60 others(30): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 605 | chr21 | TogoVar | |||||
DONSON_chr21_33572551_33593684 | 33580463 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0345a0001c0001t0003g0178 | 2 | 426 | 0.0047 | -21 | c.135 others(38): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 8/9 | chr21 | TogoVar | ||||||
DONSON_chr21_33572551_33593684 | 33590439 | CGGAGTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(298): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0006a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(102): Show | a0001c0001t0001g0017a0001c0001t0001g0121a0001c0001t0001g0136others(285): Show | 301 | 426 | 0.7066 | -21 | c.-18 others(32): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 1756 | chr21 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619783 | CACCCCCT others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(60): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(4): Show | a0001c0001t0001g0056a0001c0001t0001g0097a0001c0001t0001g0098others(60): Show | 63 | 250 | 0.2520 | -21 | c.-10 others(40): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89638698 | ACACACAC others(14): Show |
A | downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 250 | 0.0040 | -21 | c.*47 others(30): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 266 | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89639204 | CCACCCCT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 250 | 0.0040 | -21 | c.*98 others(31): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 772 | chr16 | TogoVar | ||||||
DPF3_chr14_72604034_72899101 | 72640074 | AAAAAAAT others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0041a0001c0001t0012g0101 | 2 | 234 | 0.0086 | -21 | c.872 others(40): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 8/10 | chr14 | TogoVar | ||||||
DPH3_chr3_16252061_16269943 | 16268313 | CTTTTTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02145.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0008a0001c0001t0005g0005 | 20 | 456 | 0.0439 | -21 | c.-34 others(32): Show |
DPH3 | ENSG00000154813.10 | transcript | ENST00000488423.2 | protein_coding | 3371 | chr3 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 114831022 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03098.hp1 |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0003a0006c0006t0006 | a0003c0003t0003g0039a0006c0006t0006g0003 | 2 | 56 | 0.0357 | -21 | c.60+ others(40): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPP10_chr2_114437641_115850780 | 115560386 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 56 | 0.0179 | -21 | c.441 others(40): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPP10_chr2_114437641_115850780 | 115628019 | GCATTTCT others(14): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG02809.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0001others(2): Show | a0001c0002t0001a0001c0004t0004a0002c0001t0002others(3): Show | a0001c0002t0001g0017a0001c0002t0001g0041a0001c0004t0004g0013others(5): Show | 8 | 56 | 0.1429 | -21 | c.442 others(40): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154239992 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG01952.hp2 HG01978.hp1 others(2): Show |
a0001a0002 | a0001c0027a0002c0008a0002c0012others(2): Show | a0001c0027t0027a0002c0008t0006a0002c0012t0021others(2): Show | a0001c0027t0027g0007a0002c0008t0006g0034a0002c0012t0021g0035others(2): Show | 5 | 38 | 0.1316 | -21 | c.243 others(42): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154779277 | CCACCACC others(14): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01071.hp1 HG01952.hp1 others(2): Show |
a0001a0002 | a0001c0007a0001c0027a0002c0002others(1): Show | a0001c0007t0005a0001c0007t0019a0001c0027t0027others(2): Show | a0001c0007t0005g0038a0001c0007t0019g0037a0001c0027t0027g0007others(2): Show | 5 | 38 | 0.1316 | -21 | c.113 others(40): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPPA5_chr6_73348063_73359276 | 73358559 | CTTAAAAG others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00621.hp1 others(51): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0001a0002c0004t0001g0007 | 54 | 428 | 0.1262 | -21 | c.-43 others(32): Show |
DPPA5 | ENSG00000203909.4 | transcript | ENST00000370370.4 | protein_coding | 4284 | chr6 | TogoVar | ||||||
DPY19L1_chr7_34923881_35042485 | 35037172 | GGCGCCCC others(14): Show |
G | conservative_inframe_deletion | MODERATE | NA18943.hp1 | a0009 | a0009c0004 | a0009c0004t0001 | a0009c0004t0001g0004 | 1 | 328 | 0.0031 | -21 | c.202 others(28): Show |
p.Gly others(11): Show |
DPY19L1 | ENSG00000173852.16 | transcript | ENST00000638088.2 | protein_coding | 1/22 | 313/5030 | 202/2247 | 68/748 | chr7 | TogoVar | ||
DPY19L4_chr8_94714900_94798836 | 94748621 | AATGATGA others(14): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01168.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239a0001c0001t0001g0240 | 2 | 290 | 0.0069 | -21 | c.612 others(38): Show |
DPY19L4 | ENSG00000156162.16 | transcript | ENST00000414645.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DPYD_chr1_97072743_97926034 | 97134009 | AAAAAAAT others(14): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 52 | 0.0192 | -21 | c.262 others(42): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 20/22 | chr1 | TogoVar | ||||||
DPYD_chr1_97072743_97926034 | 97385280 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0016 | 1 | 52 | 0.0192 | -21 | c.190 others(40): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 14/22 | chr1 | TogoVar | ||||||
DPYSL4_chr10_132181948_132210759 | 132205960 | CAACATCC others(14): Show |
C | downstream_gene_variant | MODIFIER | HG03139.hp2 NA20129.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0008a0001c0003t0004 | a0001c0002t0008g0195a0001c0003t0004g0037 | 2 | 418 | 0.0048 | -21 | c.*10 others(32): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 202 | chr10 | TogoVar | ||||||
DRAM1_chr12_101872580_101928612 | 101904426 | GGTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01496.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0024others(1): Show | a0001c0001t0001g0086a0001c0001t0001g0095a0001c0001t0001g0096others(30): Show | 33 | 396 | 0.0833 | -21 | c.342 others(38): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 3/6 | chr12 | TogoVar |