| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DLG5_chr10_77785791_77931755 | 77903533 | GCTTGAAC others(1504): Show |
G | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0076 | 1 | 331 | 0.0030 | -1511 | c.304 others(19): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 1/31 | chr10 | TogoVar | ||||||
| LONP1_chr19_5686834_5725146 | 5722919 | GGGCTCAC others(1504): Show |
G | upstream_gene_variant | MODIFIER | HG03704.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0070 | 2 | 386 | 0.0052 | -1511 | c.-42 others(11): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 2774 | chr19 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1394646 | ATATTGAG others(1503): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0005 | 1 | 40 | 0.0250 | -1510 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SPAG16_chr2_213279464_214415501 | 214009979 | GTGCATAA others(1503): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02559.hp2 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0048a0001c0001t0001g0066a0001c0001t0001g0071others(15): Show | 18 | 86 | 0.2093 | -1510 | c.140 others(19): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CEP68_chr2_65051416_65092004 | 65058491 | TTTTTCCT others(1502): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0157a0001c0009t0001g0158 | 2 | 360 | 0.0056 | -1509 | c.-47 others(17): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DHRSX_chrX_2214506_2505976 | 2277660 | AGAGGGAG others(1502): Show |
A | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 50 | 0.0200 | -1509 | c.389 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| ITGAV_chr2_186585056_186685901 | 186591751 | GATTAGAT others(1502): Show |
G | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 308 | 0.0033 | -1509 | c.185 others(17): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ATXN7L1_chr7_105599772_105881599 | 105749121 | TAATGTTA others(1501): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02602.hp1 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0019others(1): Show | a0001c0001t0002g0142a0001c0001t0012g0064a0001c0001t0019g0063others(1): Show | 4 | 252 | 0.0159 | -1508 | c.355 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| STAU1_chr20_49108339_49193334 | 49125569 | AGGCGCGG others(1501): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0131 | 1 | 366 | 0.0027 | -1508 | c.610 others(16): Show |
STAU1 | ENSG00000124214.21 | transcript | ENST00000371856.7 | protein_coding | 6/13 | chr20 | TogoVar | ||||||
| CCNG1_chr5_163432595_163450016 | 163434776 | CTTGCCCA others(1500): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(111): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0006a0005c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(16): Show | 114 | 422 | 0.2701 | -1507 | c.-30 others(11): Show |
CCNG1 | ENSG00000113328.20 | transcript | ENST00000340828.7 | protein_coding | 2818 | chr5 | TogoVar | ||||||
| FAM43A_chr3_194680883_194694037 | 194692531 | CTAATTTT others(1499): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0000 | 1 | 442 | 0.0023 | -1506 | c.*44 others(11): Show |
FAM43A | ENSG00000185112.6 | transcript | ENST00000329759.6 | protein_coding | 3495 | chr3 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132822424 | GTGATGTG others(1497): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0043 | a0043c0040 | a0043c0040t0001 | a0043c0040t0001g0174 | 1 | 246 | 0.0041 | -1504 | c.711 others(19): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
| HDAC4_chr2_239043168_239406020 | 239281296 | AACACACC others(1497): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02602.hp2 HG02683.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0025a0001c0002t0001 | a0001c0001t0001g0136a0001c0001t0025g0132a0001c0002t0001g0183 | 3 | 242 | 0.0124 | -1504 | c.23- others(17): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | ||||||
| ABLIM1_chr10_114426112_114663275 | 114510306 | GACTGAAA others(1495): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 NA19240.hp1 |
a0004 | a0004c0008a0004c0023 | a0004c0008t0012a0004c0023t0012 | a0004c0008t0012g0031a0004c0008t0012g0139a0004c0023t0012g0134 | 3 | 256 | 0.0117 | -1502 | c.895 others(19): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1064023 | ACTGTTGT others(1494): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG01192.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0222a0001c0001t0004g0334a0001c0001t0004g0335others(8): Show | 11 | 337 | 0.0326 | -1501 | c.118 others(19): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765724 | CGGGCTGA others(1494): Show |
C | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0379 | 1 | 412 | 0.0024 | -1501 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| KRTAP4-7_chr17_41079150_41090144 | 41081449 | GTAGTACT others(1494): Show |
G | upstream_gene_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 442 | 0.0023 | -1501 | c.-27 others(11): Show |
KRTAP4-7 | ENSG00000240871.7 | transcript | ENST00000391417.6 | protein_coding | 2700 | chr17 | TogoVar | ||||||
| RAD21L1_chr20_1221044_1260876 | 1258769 | TAACTGGT others(1494): Show |
T | downstream_gene_variant | MODIFIER | HG01361.hp2 HG01981.hp2 HG02148.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0003a0004c0005t0001g0122a0004c0005t0001g0143 | 4 | 364 | 0.0110 | -1501 | c.*43 others(11): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2894 | chr20 | TogoVar | ||||||
| TENM4_chr11_78647829_79446030 | 79179512 | AAGATGAT others(1494): Show |
A | intron_variant | MODIFIER | HG02559.hp1 NA20752.hp1 |
a0001 | a0001c0002a0001c0043 | a0001c0002t0045a0001c0043t0024 | a0001c0002t0045g0059a0001c0043t0024g0015 | 2 | 94 | 0.0213 | -1501 | c.-16 others(21): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 3/33 | chr11 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765405 | CTTGGGGA others(1493): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02622.hp2 HG02723.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0012a0002c0002a0002c0009others(2): Show | a0001c0012t0008a0001c0012t0030a0002c0002t0004others(3): Show | a0001c0012t0008g0031a0001c0012t0030g0165a0001c0012t0030g0314others(9): Show | 12 | 412 | 0.0291 | -1500 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241765455 | CTTGGGGA others(1493): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03579.hp1 |
a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0062a0004c0005t0007g0063 | 2 | 412 | 0.0049 | -1500 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241765486 | TTAGGAAG others(1493): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(128): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0013a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0039a0001c0001t0001g0066a0001c0001t0001g0069others(114): Show | 131 | 412 | 0.3180 | -1500 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NBPF10_chr1_146059711_146149804 | 146144932 | CACAGCAC others(1493): Show |
C | upstream_gene_variant | MODIFIER | HG02683.hp2 | a0090 | a0090c0097 | a0090c0097t0006 | a0090c0097t0006g0141 | 1 | 283 | 0.0035 | -1500 | c.-16 others(10): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 129 | chr1 | TogoVar | ||||||
| SNX22_chr15_64146731_64162481 | 64147848 | GGCACCTG others(1493): Show |
G | upstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0003 | 1 | 350 | 0.0029 | -1500 | c.-39 others(11): Show |
SNX22 | ENSG00000157734.14 | transcript | ENST00000325881.9 | protein_coding | 3882 | chr15 | TogoVar | ||||||
| STIM2_chr4_26855841_27030381 | 26954329 | TTGCTGAG others(1493): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG01884.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0001g0224a0001c0001t0001g0225a0001c0001t0005g0014others(18): Show | 21 | 336 | 0.0625 | -1500 | c.283 others(17): Show |
STIM2 | ENSG00000109689.20 | transcript | ENST00000467087.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241765745 | GGGGGGAG others(1492): Show |
G | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 412 | 0.0024 | -1499 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DACT2_chr6_168301904_168324777 | 168316247 | CGGCAGCA others(1491): Show |
C | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 476 | 0.0021 | -1498 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1070037 | CCCCCAGT others(1491): Show |
C | intron_variant | MODIFIER | NA18967.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0116 | 2 | 118 | 0.0170 | -1498 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| COL21A1_chr6_56051590_56252580 | 56198727 | ATAGCTCA others(1490): Show |
A | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 264 | 0.0038 | -1497 | c.-38 others(19): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316238 | CCAGCATC others(1490): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02273.hp1 HG02602.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0009 | a0001c0001t0001a0002c0005t0006a0002c0009t0007 | a0001c0001t0001g0203a0001c0001t0001g0266a0002c0005t0006g0238others(1): Show | 4 | 476 | 0.0084 | -1497 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| SERPINB3_chr18_63650197_63666893 | 63657462 | GTCTGGAA others(1490): Show |
G | exon_loss_variant others(4): Show |
HIGH | NA18953.hp1 | a0014 | a0014c0010 | a0014c0010t0001 | a0014c0010t0001g0065 | 1 | 472 | 0.0021 | -1497 | c.352 others(14): Show |
SERPINB3 | ENSG00000057149.16 | transcript | ENST00000283752.10 | protein_coding | 5/8 | chr18 | TogoVar | ||||||
| CD82_chr11_44560663_44625358 | 44621615 | CGGCTGTG others(1489): Show |
C | downstream_gene_variant | MODIFIER | HG00673.hp1 NA19091.hp2 |
a0002 | a0002c0002a0002c0008 | a0002c0002t0003a0002c0008t0004 | a0002c0002t0003g0348a0002c0008t0004g0088 | 2 | 372 | 0.0054 | -1496 | c.*24 others(11): Show |
CD82 | ENSG00000085117.12 | transcript | ENST00000227155.9 | protein_coding | 1258 | chr11 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178394895 | TGTCCTCC others(1489): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0076a0001c0001t0001g0199a0001c0001t0002g0055others(33): Show | 36 | 236 | 0.1525 | -1496 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178395247 | CGTCCTCC others(1489): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0218 | 1 | 236 | 0.0042 | -1496 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| CR1_chr1_207491157_207646765 | 207548118 | TGTCATTT others(1489): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01169.hp1 others(14): Show |
a0015a0019a0021others(7): Show | a0015c0053a0015c0054a0015c0055others(11): Show | a0015c0053t0009a0015c0054t0009a0015c0055t0002others(12): Show | a0015c0053t0009g0071a0015c0054t0009g0072a0015c0055t0002g0070others(14): Show | 17 | 360 | 0.0472 | -1496 | c.260 others(18): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 16/46 | chr1 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316571 | GCATCTCG others(1489): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01891.hp2 others(11): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0002c0033others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(6): Show | a0001c0001t0001g0195a0001c0001t0001g0239a0001c0001t0002g0074others(10): Show | 14 | 476 | 0.0294 | -1496 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DPP6_chr7_154047398_154899285 | 154662549 | GTATCAGC others(1489): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01071.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(9): Show | a0001c0001t0001a0001c0006t0002a0001c0006t0003others(13): Show | a0001c0001t0001g0019a0001c0006t0002g0015a0001c0006t0003g0013others(13): Show | 16 | 38 | 0.4211 | -1496 | c.681 others(17): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SPTBN4_chr19_40462001_40581464 | 40470307 | TTTTTTTA others(1489): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 234 | 0.0043 | -1496 | c.-15 others(16): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| VAV2_chr9_133756894_133997324 | 133896879 | GATCAGGA others(1489): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0006 | a0001c0006t0030 | a0001c0006t0030g0087 | 1 | 200 | 0.0050 | -1496 | c.322 others(19): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 2/29 | chr9 | TogoVar | ||||||
| CHST6_chr16_75467052_75500441 | 75488766 | ATGAGGTC others(1488): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0295 | 1 | 371 | 0.0027 | -1495 | c.-92 others(17): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2280787 | TGGGGGAA others(1488): Show |
T | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 50 | 0.0200 | -1495 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316376 | TGTGTGTA others(1487): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(8): Show | a0001c0001t0001g0205a0001c0001t0001g0275a0001c0001t0002g0095others(19): Show | 28 | 476 | 0.0588 | -1494 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| CDC123_chr10_12191188_12255589 | 12254096 | TGGTGGCT others(1486): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0181 | 1 | 392 | 0.0026 | -1493 | c.*37 others(11): Show |
CDC123 | ENSG00000151465.14 | transcript | ENST00000281141.9 | protein_coding | 3508 | chr10 | TogoVar | ||||||
| PADI4_chr1_17303197_17369004 | 17349677 | CCTGGGTG others(1486): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(135): Show |
a0001a0002a0010others(2): Show | a0001c0001a0001c0009a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0009t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(132): Show | 138 | 372 | 0.3710 | -1493 | c.115 others(19): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1235705 | TACTCCCT others(1485): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0034 | 1 | 106 | 0.0094 | -1492 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| CPNE4_chr3_131528569_132040014 | 131993046 | TAATACAA others(1485): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0032a0001c0001t0001g0036a0001c0001t0001g0040others(16): Show | 19 | 94 | 0.2021 | -1492 | c.-2+ others(17): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316266 | ATGTGTGT others(1485): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG01123.hp1 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0011a0002c0003others(1): Show | a0001c0001t0002a0001c0011t0002a0002c0003t0003others(1): Show | a0001c0001t0002g0003a0001c0001t0002g0084a0001c0011t0002g0085others(3): Show | 12 | 476 | 0.0252 | -1492 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316375 | ATGTGTGT others(1485): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01516.hp2 others(11): Show |
a0002a0004a0005others(1): Show | a0002c0002a0002c0003a0002c0015others(3): Show | a0002c0002t0004a0002c0003t0010a0002c0015t0004others(4): Show | a0002c0002t0004g0042a0002c0003t0010g0099a0002c0015t0004g0162others(5): Show | 14 | 476 | 0.0294 | -1492 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2280804 | AAGAGAGA others(1485): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG02886.hp2 NA18952.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0004 | a0001c0001t0001g0021a0001c0001t0001g0025a0001c0001t0001g0041others(1): Show | 4 | 50 | 0.0800 | -1492 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| PDXK_chr21_43714129_43767299 | 43739501 | TCAGGAAA others(1485): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0005 | a0001c0005t0066 | a0001c0005t0066g0224 | 1 | 358 | 0.0028 | -1492 | c.143 others(16): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |