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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CTNS_chr17_3631760_3668103 | 3635236 | A | AGGAAGGA others(43): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01258.hp2 HG01515.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0007a0002c0002t0010 | a0001c0003t0003g0181 a0002c0002t0007g0035 a0002c0002t0010g0225 |
3 | 352 | 0.0085 | 50 | c.-18 others(61): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 1523 | chr17 | TogoVar | |||||||
CTSC_chr11_88288592_88342736 | 88291569 | T | TGAAAGAA others(43): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG02080.hp1 HG02738.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0044 a0004c0005t0001g0236 |
4 | 33 | 0.1212 | 50 | c.*24 others(61): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 2022 | chr11 | TogoVar | |||||||
CTTNBP2_chr7_117705651_117878441 | 117864725 | C | CATATATT others(43): Show |
intron_variant | MODIFIER | HG01361.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0020 |
2 | 135 | 0.0148 | 50 | c.82- others(65): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
CTTNBP2_chr7_117705651_117878441 | 117864843 | C | CTATATTC others(43): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01433.hp1 HG02257.hp2 others(4): Show |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0001c0001t0004a0010c0010t0001 | a0001c0001t0001g0050 a0001c0001t0001g0063 a0001c0001t0001g0077 others(4): Show |
7 | 135 | 0.0519 | 50 | c.82- others(65): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
CWF19L2_chr11_107321360_107462825 | 107402873 | G | GTGTGTAT others(43): Show |
intron_variant | MODIFIER | NA19000.hp2 NA19081.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0001 a0003c0003t0002g0295 |
2 | 72 | 0.0278 | 50 | c.161 others(69): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 10/17 | chr11 | TogoVar | |||||||
CWF19L2_chr11_107321360_107462825 | 107402873 | G | GTGTGTAT others(43): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0050 | 1 | 71 | 0.0141 | 50 | c.161 others(69): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 10/17 | chr11 | TogoVar | |||||||
CWH43_chr4_48981275_49067079 | 49039322 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0150 | 1 | 282 | 0.0035 | 50 | c.180 others(69): Show |
CWH43 | ENSG00000109182.12 | transcript | ENST00000226432.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CXorf49_chrX_71709371_71723285 | 71710916 | T | TGTGTGTG others(43): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 61 | 0.0164 | 50 | c.*36 others(61): Show |
CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 3454 | chrX | TogoVar | |||||||
CXorf49_chrX_71709371_71723285 | 71710916 | T | TGTGTGTG others(43): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0008 | a0008c0004 | a0008c0004t0001 | a0008c0004t0001g0008 | 1 | 61 | 0.0164 | 50 | c.*36 others(61): Show |
CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 3454 | chrX | TogoVar | |||||||
CYBA_chr16_88638289_88656053 | 88646304 | T | TGCAGACC others(43): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(99): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(3): Show | a0001c0001t0001g0088 a0001c0001t0002g0115 a0001c0001t0002g0116 others(43): Show |
102 | 458 | 0.2227 | 50 | c.288 others(65): Show |
CYBA | ENSG00000051523.12 | transcript | ENST00000261623.8 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
CYBA_chr16_88638289_88656053 | 88646325 | C | CGGACCGG others(43): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(251): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(97): Show |
254 | 355 | 0.7155 | 50 | c.288 others(65): Show |
CYBA | ENSG00000051523.12 | transcript | ENST00000261623.8 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
CYFIP1_chr15_22862052_22985368 | 22875885 | C | CATACATA others(43): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0010a0002c0004t0031 | a0001c0002t0010g0299 a0002c0004t0031g0052 |
2 | 94 | 0.0213 | 50 | c.304 others(67): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 26/30 | chr15 | TogoVar | |||||||
CYLC2_chr9_102990333_103023488 | 102996196 | A | AGTTTCTA others(43): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0072 | 1 | 446 | 0.0022 | 50 | c.17+ others(63): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
CYLC2_chr9_102990333_103023488 | 103015078 | A | AATATACA others(43): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0058 | 2 | 13 | 0.1538 | 50 | c.*81 others(69): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYP20A1_chr2_203234018_203311026 | 203257939 | T | TTGCCTGG others(43): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02622.hp2 HG03139.hp1 others(1): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0005a0002c0002t0132a0004c0004t0005others(1): Show | a0002c0002t0005g0268 a0002c0002t0132g0175 a0004c0004t0005g0034 others(1): Show |
4 | 224 | 0.0179 | 50 | c.432 others(67): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CYP2C9_chr10_94933658_94995091 | 94934656 | A | ATATATGT others(43): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 287 | 0.0035 | 50 | c.-40 others(61): Show |
CYP2C9 | ENSG00000138109.11 | transcript | ENST00000260682.8 | protein_coding | 4001 | chr10 | TogoVar | |||||||
CYP2U1_chr4_107926549_107958461 | 107944839 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 a0001c0001t0002g0117 |
3 | 33 | 0.0909 | 50 | c.491 others(65): Show |
CYP2U1 | ENSG00000155016.18 | transcript | ENST00000332884.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15928777 | A | ATCTCCTA others(43): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0001 | a0002c0001t0134 | a0002c0001t0134g0360 | 1 | 384 | 0.0026 | 50 | c.343 others(65): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 2/11 | chr19 | TogoVar | |||||||
CYP4F3_chr19_15635897_15667825 | 15650799 | C | CTTTCTTT others(43): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 409 | 0.0024 | 50 | c.918 others(65): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CYRIB_chr8_129834593_130021560 | 129930365 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | NA18968.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0082 |
2 | 11 | 0.1818 | 50 | c.-13 others(71): Show |
CYRIB | ENSG00000153310.22 | transcript | ENST00000694912.1 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
CYSLTR1_chrX_78266468_78332611 | 78269053 | A | AATATATA others(43): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 239 | 0.0042 | 50 | c.*36 others(61): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 2414 | chrX | TogoVar | |||||||
CYSLTR2_chr13_48648929_48716226 | 48715871 | A | AAAAAAAA others(43): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0117 | 1 | 316 | 0.0032 | 50 | c.*80 others(61): Show |
CYSLTR2 | ENSG00000152207.8 | transcript | ENST00000682523.1 | protein_coding | 4646 | chr13 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241764318 | G | GCAGCTAC others(43): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0073 | 1 | 410 | 0.0024 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241765455 | C | CTTGGGGA others(43): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0004 | a0004c0005 | a0004c0005t0024 | a0004c0005t0024g0037 | 1 | 296 | 0.0034 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241765705 | G | GTTGGGGA others(43): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03239.hp1 NA19079.hp2 |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0031a0003c0003t0014a0004c0005t0012 | a0001c0001t0031g0162 a0003c0003t0014g0320 a0004c0005t0012g0218 |
3 | 409 | 0.0073 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241765805 | G | CTTGGGGA others(43): Show |
intron_variant | MODIFIER | HG03710.hp2 HG03942.hp1 |
a0003a0004 | a0003c0003a0004c0005 | a0003c0003t0005a0004c0005t0005 | a0003c0003t0005g0360 a0004c0005t0005g0072 |
2 | 380 | 0.0053 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241765855 | G | GTTGGGGA others(43): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02559.hp1 HG02723.hp1 others(2): Show |
a0004a0005 | a0004c0005a0004c0016a0005c0004 | a0004c0005t0005a0004c0016t0012a0005c0004t0005 | a0004c0005t0005g0211 a0004c0016t0012g0275 a0004c0016t0012g0279 others(1): Show |
5 | 409 | 0.0122 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766055 | C | CTTGGGGA others(43): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0003 | a0003c0003 | a0003c0003t0010 | a0003c0003t0010g0316 | 1 | 367 | 0.0027 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766205 | G | GTTGGGGA others(43): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01243.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0005a0001c0001t0031a0002c0002t0005others(9): Show | a0001c0001t0005g0007 a0001c0001t0031g0162 a0002c0002t0005g0138 others(15): Show |
19 | 396 | 0.0480 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766255 | G | GTTGGGGA others(43): Show |
intron_variant | MODIFIER | HG00408.hp1 HG04228.hp1 |
a0003 | a0003c0003a0003c0008 | a0003c0003t0005a0003c0008t0005 | a0003c0003t0005g0363 a0003c0008t0005g0336 |
2 | 372 | 0.0054 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766282 | G | GGGAGTAG others(43): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0005 | a0004c0005t0050 | a0004c0005t0050g0075 | 1 | 410 | 0.0024 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766355 | G | GTTGGGGA others(43): Show |
intron_variant | MODIFIER | NA19065.hp1 NA19079.hp2 |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0014 | a0003c0003t0005g0332 a0003c0003t0014g0320 |
2 | 376 | 0.0053 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241766448 | G | GGGAGAAG others(43): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0004 | a0005c0004t0005 | a0005c0004t0005g0324 | 1 | 410 | 0.0024 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766497 | G | GGGGAGAA others(43): Show |
intron_variant | MODIFIER | NA18972.hp1 NA19005.hp1 NA19079.hp2 |
a0003a0004 | a0003c0003a0004c0005 | a0003c0003t0014a0004c0005t0014 | a0003c0003t0014g0318 a0003c0003t0014g0320 a0004c0005t0014g0104 |
3 | 409 | 0.0073 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766505 | G | GTTGGGGA others(43): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0003 | a0003c0008 | a0003c0008t0005 | a0003c0008t0005g0336 | 1 | 407 | 0.0025 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766547 | G | GGGGAGAA others(43): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0005 | a0004c0005t0050 | a0004c0005t0050g0075 | 1 | 386 | 0.0026 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766548 | G | TGGAGAAC others(43): Show |
intron_variant | MODIFIER | HG01106.hp2 NA20300.hp2 |
a0004 | a0004c0016 | a0004c0016t0012 | a0004c0016t0012g0275 a0004c0016t0012g0279 |
2 | 406 | 0.0049 | 50 | c.130 others(69): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241766797 | G | GGGGAGAA others(43): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0003 | a0003c0008 | a0003c0008t0005 | a0003c0008t0005g0336 | 1 | 410 | 0.0024 | 50 | c.130 others(67): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766801 | A | AGAAGTTG others(43): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0003 | a0003c0003 | a0003c0003t0014 | a0003c0003t0014g0318 | 1 | 410 | 0.0024 | 50 | c.130 others(67): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766951 | A | AGAAGTTG others(43): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0004 | a0005c0004t0005 | a0005c0004t0005g0324 | 1 | 410 | 0.0024 | 50 | c.130 others(67): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241767051 | A | AGAAGTTG others(43): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03195.hp1 |
a0005 | a0005c0004 | a0005c0004t0005 | a0005c0004t0005g0025 | 2 | 405 | 0.0049 | 50 | c.130 others(67): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241767101 | A | AGAAGTTG others(43): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0138 | 1 | 377 | 0.0027 | 50 | c.130 others(67): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241767151 | A | AGAAGTTG others(43): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18957.hp1 |
a0003a0004 | a0003c0003a0004c0005 | a0003c0003t0010a0004c0005t0005 | a0003c0003t0010g0316 a0004c0005t0005g0211 |
2 | 403 | 0.0050 | 50 | c.130 others(67): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241767455 | G | GTTGGGGA others(43): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0003 | a0003c0003 | a0003c0003t0024 | a0003c0003t0024g0317 | 1 | 248 | 0.0040 | 50 | c.130 others(67): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DAAM1_chr14_59183667_59376403 | 59289767 | G | GATATATA others(43): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0021 | 1 | 44 | 0.0227 | 50 | c.184 others(67): Show |
DAAM1 | ENSG00000100592.16 | transcript | ENST00000360909.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DAAM1_chr14_59183667_59376403 | 59289767 | G | GATATATA others(43): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0121 | 1 | 44 | 0.0227 | 50 | c.184 others(67): Show |
DAAM1 | ENSG00000100592.16 | transcript | ENST00000360909.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DAB1_chr1_56989778_57429060 | 57367043 | C | CAAAATAA others(43): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 16 | 0.0625 | 50 | c.-13 others(71): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71553444 | C | CCATATAT others(43): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01978.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0059 |
3 | 63 | 0.0476 | 50 | c.157 others(69): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
DACH2_chrX_86143451_86837602 | 86429535 | A | ATTTCTTT others(43): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 67 | 0.0149 | 50 | c.527 others(69): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86593398 | T | TTTTTATT others(43): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 66 | 0.0152 | 50 | c.641 others(69): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar |