| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LIMA1_chr12_50170788_50288520 | 50170882 | GGGTTCAC others(593): Show |
G | downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0293 | 1 | 294 | 0.0034 | -600 | c.*55 others(11): Show |
LIMA1 | ENSG00000050405.14 | transcript | ENST00000341247.9 | protein_coding | 4905 | chr12 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195777299 | CCCATACC others(593): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01106.hp2 others(2): Show |
a0026a0175a0178others(1): Show | a0026c0009a0175c0031a0178c0034others(1): Show | a0026c0009t0002a0175c0031t0001a0178c0034t0002others(1): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0175c0031t0001g0190others(2): Show | 5 | 249 | 0.0201 | -600 | c.129 others(20): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 898388 | ATTCCCAC others(593): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(156): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0017others(156): Show | 159 | 242 | 0.6570 | -600 | c.361 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| PDCD1_chr2_241844884_241863894 | 241847143 | TTGAGTTC others(593): Show |
T | downstream_gene_variant | MODIFIER | HG01168.hp2 HG02004.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0088 | 6 | 407 | 0.0147 | -600 | c.*33 others(11): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 2740 | chr2 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50344236 | TTTCCCCC others(593): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01496.hp2 HG02109.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0019a0001c0001t0031a0005c0011t0008 | a0001c0001t0019g0306a0001c0001t0019g0307a0001c0001t0019g0308others(5): Show | 8 | 340 | 0.0235 | -600 | c.-14 others(18): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PRR16_chr5_120459300_120692314 | 120574531 | GAGGCAGA others(593): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG01891.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0003 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0021others(13): Show | 16 | 170 | 0.0941 | -600 | c.159 others(21): Show |
PRR16 | ENSG00000184838.15 | transcript | ENST00000407149.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RHD_chr1_25267509_25335445 | 25331046 | CAACCTCT others(593): Show |
C | downstream_gene_variant | MODIFIER | NA18969.hp1 NA18977.hp2 NA18978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0064others(1): Show | 4 | 214 | 0.0187 | -600 | c.*21 others(11): Show |
RHD | ENSG00000187010.21 | transcript | ENST00000328664.9 | protein_coding | 602 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974581 | CAGGGAAA others(593): Show |
C | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 150 | 0.0067 | -600 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245975013 | TAGGGAAA others(593): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG04228.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0027a0001c0002t0002g0037 | 2 | 150 | 0.0133 | -600 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76394144 | CAGGTGGT others(593): Show |
C | intron_variant | MODIFIER | HG03491.hp2 NA18946.hp1 NA18954.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0004g0081a0001c0001t0005g0201a0001c0001t0010g0313others(2): Show | 5 | 346 | 0.0145 | -600 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1239381 | CCCCCCTG others(592): Show |
C | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0017 | 1 | 106 | 0.0094 | -599 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| BTBD9_chr6_38163451_38644929 | 38436110 | GCCTAGTA others(592): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0114a0001c0001t0136 | a0001c0001t0114g0013a0001c0001t0136g0142 | 2 | 224 | 0.0089 | -599 | c.115 others(21): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
| FER_chr5_108742897_109201841 | 108969615 | TTGAACAC others(592): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG02965.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0104a0001c0001t0002g0105a0001c0001t0002g0115others(1): Show | 4 | 138 | 0.0290 | -599 | c.165 others(21): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GALNT9_chr12_132191372_132334589 | 132290798 | CGTCCACA others(592): Show |
C | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0121 | 1 | 183 | 0.0055 | -599 | c.239 others(17): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| KXD1_chr19_18552870_18574378 | 18565507 | CAGGCGTG others(592): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 396 | 0.0025 | -599 | c.254 others(16): Show |
KXD1 | ENSG00000105700.11 | transcript | ENST00000222307.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MGRN1_chr16_4619826_4695972 | 4627539 | TCACTTTG others(592): Show |
T | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0041 | 1 | 334 | 0.0030 | -599 | c.88+ others(15): Show |
MGRN1 | ENSG00000102858.13 | transcript | ENST00000262370.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TPO_chr2_1408463_1548673 | 1444373 | TGGCTCCT others(592): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(72): Show |
a0000a0001a0002others(6): Show | a0000c0019a0001c0001a0001c0004others(13): Show | a0000c0019t0004a0001c0001t0001a0001c0001t0002others(28): Show | a0000c0019t0004g0007a0001c0001t0001g0022a0001c0001t0001g0030others(72): Show | 75 | 130 | 0.5769 | -599 | c.482 others(17): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TPO_chr2_1408463_1548673 | 1444635 | TGGGGCAG others(592): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02004.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0007 | a0001c0001t0001g0080a0002c0002t0007g0121 | 2 | 130 | 0.0154 | -599 | c.482 others(17): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TPPP_chr5_654862_698352 | 691779 | CATCAAAA others(592): Show |
C | intron_variant | MODIFIER | HG02622.hp1 NA18943.hp1 NA20805.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0009 | a0001c0002t0037a0001c0002t0095a0001c0004t0037others(1): Show | a0001c0002t0037g0366a0001c0002t0095g0365a0001c0004t0037g0364others(1): Show | 4 | 409 | 0.0098 | -599 | c.-5+ others(14): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393414 | GGGGGGAA others(592): Show |
G | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 346 | 0.0029 | -599 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112845176 | AGTACTAA others(591): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(88): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0002a0001c0014others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(39): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(88): Show | 91 | 254 | 0.3583 | -598 | c.180 others(19): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1393242 | TCCCTCCT others(591): Show |
T | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -598 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1398617 | TGAGTCGT others(591): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01361.hp1 HG01496.hp1 others(8): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0009others(3): Show | a0001c0002t0001a0001c0002t0022a0001c0003t0024others(7): Show | a0001c0002t0001g0015a0001c0002t0001g0019a0001c0002t0022g0034others(8): Show | 11 | 40 | 0.2750 | -598 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DOP1B_chr21_36151824_36299274 | 36215812 | GGACCAGC others(591): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 292 | 0.0034 | -598 | c.112 others(19): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 9/36 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| ERICH1_chr8_659200_736224 | 659282 | CATCCTGG others(591): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02970.hp1 HG03130.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0312a0001c0003t0002g0313a0001c0003t0002g0314 | 3 | 378 | 0.0079 | -598 | c.*47 others(11): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4917 | chr8 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510705 | AACATACA others(591): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG02647.hp2 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0084a0001c0002t0029a0001c0006t0087 | a0001c0001t0084g0219a0001c0002t0029g0235a0001c0006t0087g0213 | 3 | 244 | 0.0123 | -598 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686544 | GGGGCCCC others(591): Show |
G | intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 362 | 0.0028 | -598 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3687228 | TCCCCCGC others(591): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG03516.hp1 NA18522.hp1 |
a0002a0005 | a0002c0002a0005c0009 | a0002c0002t0001a0005c0009t0001 | a0002c0002t0001g0021a0002c0002t0001g0184a0005c0009t0001g0344 | 3 | 362 | 0.0083 | -598 | c.981 others(15): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| PPP2R2D_chr10_131896008_131964834 | 131953141 | TTGCGGGG others(591): Show |
T | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0327 | 1 | 394 | 0.0025 | -598 | c.108 others(19): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| SLC17A2_chr6_25907754_25935691 | 25927316 | CAATTTGA others(591): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0198 | 1 | 380 | 0.0026 | -598 | c.-83 others(17): Show |
SLC17A2 | ENSG00000112337.11 | transcript | ENST00000377850.8 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
| TMEM255A_chrX_120253650_120316461 | 120296570 | AGGTAAAA others(591): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG03486.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0003others(1): Show | a0001c0001t0002g0274a0001c0001t0006g0192a0001c0002t0003g0193others(2): Show | 5 | 303 | 0.0165 | -598 | c.202 others(17): Show |
TMEM255A | ENSG00000125355.16 | transcript | ENST00000371369.9 | protein_coding | 2/8 | chrX | TogoVar | ||||||
| TPO_chr2_1408463_1548673 | 1530828 | CTTCACTG others(591): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(61): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(25): Show | a0001c0001t0001g0022a0001c0001t0001g0030a0001c0001t0001g0032others(60): Show | 64 | 130 | 0.4923 | -598 | c.261 others(19): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | chr2 | TogoVar | ||||||
| USP40_chr2_233470526_233571782 | 233567788 | TTAGTTAT others(591): Show |
T | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 324 | 0.0031 | -598 | c.-17 others(11): Show |
USP40 | ENSG00000085982.16 | transcript | ENST00000678225.2 | protein_coding | 1007 | chr2 | TogoVar | ||||||
| ZC3H3_chr8_143432659_143546447 | 143487834 | GACACAGA others(591): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG03209.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(1): Show | 4 | 352 | 0.0114 | -598 | c.171 others(21): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | ||||||
| ZDHHC2_chr8_17151482_17229799 | 17151610 | CCAAGATC others(591): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0360 | 1 | 390 | 0.0026 | -598 | c.-51 others(11): Show |
ZDHHC2 | ENSG00000104219.13 | transcript | ENST00000262096.13 | protein_coding | 4871 | chr8 | TogoVar | ||||||
| ZFHX3_chr16_72777885_73053128 | 72923055 | ATGTGTAT others(591): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0042 | a0003c0042t0002 | a0003c0042t0002g0189 | 1 | 254 | 0.0039 | -598 | c.321 others(21): Show |
ZFHX3 | ENSG00000140836.17 | transcript | ENST00000268489.10 | protein_coding | 3/9 | chr16 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144531235 | AAGGGCAC others(590): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0152a0001c0001t0004g0154a0001c0001t0004g0156others(1): Show | 4 | 246 | 0.0163 | -597 | c.298 others(17): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60467315 | ATGGTGGT others(590): Show |
A | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0098 | 1 | 262 | 0.0038 | -597 | c.487 others(16): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| C8orf82_chr8_144520733_144534111 | 144531235 | AAGGGCAC others(590): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG02976.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0005a0002c0004t0021 | a0002c0004t0005g0012a0002c0004t0021g0058 | 6 | 398 | 0.0151 | -597 | c.-29 others(11): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2125 | chr8 | TogoVar | ||||||
| CAMK1D_chr10_12344547_12840545 | 12775523 | AGGTGAGA others(590): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG02258.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0045 | a0001c0001t0002g0126a0001c0002t0045g0118 | 2 | 214 | 0.0094 | -597 | c.565 others(17): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| COL4A2_chr13_110302284_110518209 | 110481340 | TTCTGTCC others(590): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02258.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0015a0002c0038a0002c0064others(8): Show | a0001c0015t0001a0002c0038t0001a0002c0064t0009others(8): Show | a0001c0015t0001g0198a0002c0038t0001g0212a0002c0064t0009g0170others(8): Show | 11 | 372 | 0.0296 | -597 | c.275 others(17): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| DCC_chr18_52335197_53540899 | 53085988 | TCTCCTTC others(590): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02280.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0006a0001c0002t0009others(1): Show | a0001c0002t0002g0038a0001c0002t0006g0003a0001c0002t0009g0049others(1): Show | 4 | 114 | 0.0351 | -597 | c.126 others(21): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LRRC24_chr8_144517388_144532033 | 144531235 | AAGGGCAC others(590): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 6 | 398 | 0.0151 | -597 | c.-49 others(11): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4203 | chr8 | TogoVar | ||||||
| MIX23_chr3_122354591_122388231 | 122363277 | AATATCCC others(590): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262a0001c0001t0001g0263 | 2 | 420 | 0.0048 | -597 | c.325 others(15): Show |
MIX23 | ENSG00000160124.9 | transcript | ENST00000291458.9 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
| MVB12B_chr9_126321829_126512040 | 126484735 | ACCTTCCA others(590): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 318 | 0.0031 | -597 | c.873 others(16): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64174587 | TAGCATCT others(590): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0057 | 1 | 223 | 0.0045 | -597 | c.-99 others(18): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NEDD4L_chr18_58039226_58406539 | 58241506 | ATCTGGAT others(590): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02896.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0048 | a0001c0001t0001g0112a0001c0001t0018g0009a0001c0001t0048g0007 | 3 | 118 | 0.0254 | -597 | c.123 others(17): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | chr18 | TogoVar | ||||||
| NUFIP2_chr17_29250839_29299148 | 29284428 | TGGCACGG others(590): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 356 | 0.0028 | -597 | c.200 others(18): Show |
NUFIP2 | ENSG00000108256.9 | transcript | ENST00000225388.9 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
| RAP1GAP2_chr17_2791438_3042741 | 3000540 | CAGAAGAA others(590): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0016 | a0001c0016t0128 | a0001c0016t0128g0191 | 1 | 218 | 0.0046 | -597 | c.120 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80748344 | GGGGGCTG others(590): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02280.hp1 NA20752.hp2 |
a0001 | a0001c0037a0001c0094a0001c0095 | a0001c0037t0053a0001c0094t0057a0001c0095t0003 | a0001c0037t0053g0138a0001c0094t0057g0136a0001c0095t0003g0137 | 3 | 196 | 0.0153 | -597 | c.655 others(17): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |