| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MYOM2_chr8_2040046_2150456 | 2085468 | GCTGTCGT others(602): Show |
G | intron_variant | MODIFIER | HG02735.hp1 | a0039 | a0039c0029 | a0039c0029t0001 | a0039c0029t0001g0173 | 1 | 403 | 0.0025 | -609 | c.164 others(16): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2085511 | CGTGGCCC others(602): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG04228.hp1 |
a0001a0013 | a0001c0065a0013c0030 | a0001c0065t0001a0013c0030t0002 | a0001c0065t0001g0125a0013c0030t0002g0300 | 2 | 403 | 0.0050 | -609 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PXDN_chr2_1626887_1749515 | 1703650 | GGGGGGCA others(602): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0027 | 1 | 322 | 0.0031 | -609 | c.201 others(19): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25758253 | ACTCATTC others(601): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0071 | 1 | 300 | 0.0033 | -608 | c.654 others(19): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1128545 | CCACCGTC others(601): Show |
C | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0181 | 1 | 326 | 0.0031 | -608 | c.-1- others(15): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132304854 | CGGGCACA others(601): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0025 | a0001c0025t0012 | a0001c0025t0012g0048 | 1 | 183 | 0.0055 | -608 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1365778 | AGCGGGGT others(601): Show |
A | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0086 | 1 | 115 | 0.0087 | -608 | c.874 others(16): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| LOC128462377_chr16_89312046_89423292 | 89400146 | CGGTCATC others(601): Show |
C | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0119 | 1 | 366 | 0.0027 | -608 | c.9+1 others(15): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186560 | GGGGAACA others(601): Show |
G | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0096 | 2 | 350 | 0.0057 | -608 | c.*20 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2429 | chr16 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132149488 | CACACCAC others(601): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0015 | a0015c0019 | a0015c0019t0001 | a0015c0019t0001g0071 | 1 | 294 | 0.0034 | -608 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45931926 | TGTCCTGA others(601): Show |
T | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 292 | 0.0034 | -608 | c.856 others(17): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| RAPGEF1_chr9_131571775_131745076 | 131586613 | CACACACA others(601): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0003 | a0003c0010 | a0003c0010t0005 | a0003c0010t0005g0025 | 1 | 368 | 0.0027 | -608 | c.323 others(18): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 320586 | CACTCACG others(600): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01099.hp2 others(12): Show |
a0001a0004a0006others(3): Show | a0001c0014a0004c0041a0004c0042others(9): Show | a0001c0014t0001a0004c0041t0001a0004c0042t0002others(9): Show | a0001c0014t0001g0243a0001c0014t0001g0244a0004c0041t0001g0246others(12): Show | 15 | 256 | 0.0586 | -607 | c.827 others(17): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| FBXL20_chr17_39247663_39406626 | 39291894 | TTCCAAAG others(600): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015a0001c0001t0021others(2): Show | a0001c0001t0005g0216a0001c0001t0005g0220a0001c0001t0005g0223others(12): Show | 15 | 230 | 0.0652 | -607 | c.398 others(17): Show |
FBXL20 | ENSG00000108306.13 | transcript | ENST00000264658.11 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
| JAM3_chr11_134064072_134157001 | 134092924 | TCTTATTC others(600): Show |
T | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 390 | 0.0026 | -607 | c.76+ others(17): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| STRC_chr15_43594563_43623800 | 43622146 | GCCACAAT others(600): Show |
G | upstream_gene_variant | MODIFIER | HG02738.hp2 HG03688.hp2 HG04115.hp2 |
a0002 | a0002c0002a0002c0015 | a0002c0002t0001a0002c0015t0001 | a0002c0002t0001g0068a0002c0002t0001g0069a0002c0015t0001g0070 | 3 | 374 | 0.0080 | -607 | c.-40 others(11): Show |
STRC | ENSG00000242866.10 | transcript | ENST00000450892.7 | protein_coding | 3347 | chr15 | TogoVar | ||||||
| TRIM39_chr6_30321927_30348729 | 30334322 | CACTATTT others(600): Show |
C | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 461 | 0.0022 | -607 | c.550 others(16): Show |
TRIM39 | ENSG00000204599.16 | transcript | ENST00000396551.9 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1394119 | CTGGAGAT others(599): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0284 | 1 | 360 | 0.0028 | -606 | c.91+ others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ELL_chr19_18437663_18527070 | 18455226 | ATCACGCC others(599): Show |
A | intron_variant | MODIFIER | HG01169.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025a0001c0001t0002g0064 | 2 | 244 | 0.0082 | -606 | c.869 others(17): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 6/11 | chr19 | TogoVar | ||||||
| FRMD8_chr11_65381637_65418525 | 65388193 | ATGATCTT others(599): Show |
A | intron_variant | MODIFIER | NA19074.hp2 NA19077.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0044 | 2 | 366 | 0.0055 | -606 | c.85+ others(14): Show |
FRMD8 | ENSG00000126391.14 | transcript | ENST00000317568.10 | protein_coding | 2/10 | chr11 | TogoVar | ||||||
| KNDC1_chr10_133155219_133231412 | 133222538 | TGTGTGTG others(599): Show |
T | intron_variant | MODIFIER | HG01515.hp1 | a0013 | a0013c0023 | a0013c0023t0004 | a0013c0023t0004g0306 | 1 | 332 | 0.0030 | -606 | c.501 others(19): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MLPH_chr2_237482251_237560322 | 237544536 | GTTGAGTT others(599): Show |
G | intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 286 | 0.0035 | -606 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RAPGEF1_chr9_131571775_131745076 | 131586499 | CACACCTG others(599): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0024 | 1 | 368 | 0.0027 | -606 | c.323 others(18): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | ||||||
| TCP11_chr6_35113075_35146339 | 35136481 | TTTCTCTT others(599): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG03195.hp1 HG03225.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0047a0002c0002t0004g0048a0002c0002t0004g0049others(2): Show | 5 | 412 | 0.0121 | -606 | c.125 others(15): Show |
TCP11 | ENSG00000124678.20 | transcript | ENST00000311875.11 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
| TTC7B_chr14_90519564_90821430 | 90525388 | GAGAAGTC others(599): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01106.hp2 HG01261.hp1 HG01934.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0029a0001c0001t0104a0001c0001t0109others(15): Show | a0001c0001t0029g0116a0001c0001t0104g0028a0001c0001t0109g0175others(16): Show | 19 | 200 | 0.0950 | -606 | c.*15 others(13): Show |
TTC7B | ENSG00000165914.15 | transcript | ENST00000328459.11 | protein_coding | 20/20 | 15374 | chr14 | TogoVar | |||||
| CDC34_chr19_526760_547087 | 540185 | GTGGCCAG others(598): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG01069.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0013 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0017others(16): Show | 50 | 328 | 0.1524 | -605 | c.498 others(16): Show |
CDC34 | ENSG00000099804.9 | transcript | ENST00000215574.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DBNDD1_chr16_89999871_90024456 | 90003450 | TTCCCTCC others(598): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 412 | 0.0024 | -605 | c.*22 others(11): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1420 | chr16 | TogoVar | ||||||
| DCAF8_chr1_160210720_160267549 | 160235187 | ACAGTGGC others(598): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | 336 | 0.0119 | -605 | c.959 others(17): Show |
DCAF8 | ENSG00000132716.19 | transcript | ENST00000368074.6 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2279236 | AGGGAGAG others(598): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0007 | a0007c0009 | a0007c0009t0013 | a0007c0009t0013g0005 | 1 | 50 | 0.0200 | -605 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2279349 | AGAGGGAG others(598): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0009 | 1 | 50 | 0.0200 | -605 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137818595 | GGCGCCAT others(598): Show |
G | intron_variant | MODIFIER | HG02129.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0091 | 2 | 170 | 0.0118 | -605 | c.354 others(18): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ERICH1_chr8_659200_736224 | 675871 | TGAGGACA others(598): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 378 | 0.0027 | -605 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| GZMM_chr19_539053_554922 | 540185 | GTGGCCAG others(598): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00544.hp2 others(66): Show |
a0000a0001a0002others(3): Show | a0000c0015a0001c0001a0001c0002others(6): Show | a0000c0015t0001a0001c0001t0001a0001c0001t0002others(9): Show | a0000c0015t0001g0230a0001c0001t0001g0006a0001c0001t0001g0010others(52): Show | 69 | 398 | 0.1734 | -605 | c.-38 others(11): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 3867 | chr19 | TogoVar | ||||||
| LRP1B_chr2_140226423_142136016 | 141638404 | AATTGCCT others(598): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG02723.hp2 others(1): Show |
a0001a0002 | a0001c0005a0001c0007a0001c0028others(1): Show | a0001c0005t0008a0001c0007t0003a0001c0028t0002others(1): Show | a0001c0005t0008g0010a0001c0007t0003g0003a0001c0028t0002g0020others(1): Show | 4 | 28 | 0.1429 | -605 | c.206 others(21): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 2/90 | chr2 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 2035548 | CGGGACAG others(598): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0004others(1): Show | a0001c0001t0001g0081a0001c0001t0001g0146a0001c0001t0001g0147others(11): Show | 14 | 264 | 0.0530 | -605 | c.121 others(21): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2085676 | ACTGTCGT others(598): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0014 | a0014c0113 | a0014c0113t0001 | a0014c0113t0001g0344 | 1 | 403 | 0.0025 | -605 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| TOLLIP_chr11_1269371_1314632 | 1294073 | AGTGTGTC others(598): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0311 | 1 | 348 | 0.0029 | -605 | c.183 others(16): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
| ZFYVE28_chr4_2264597_2423645 | 2396035 | GGAGCTGA others(598): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG02027.hp2 others(6): Show |
a0001a0004 | a0001c0002a0001c0005a0001c0023others(1): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0009others(2): Show | a0001c0002t0001g0037a0001c0002t0001g0094a0001c0002t0001g0100others(6): Show | 9 | 290 | 0.0310 | -605 | c.39+ others(17): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288791 | TCCCCCGT others(597): Show |
T | downstream_gene_variant | MODIFIER | HG03453.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 295 | 0.0068 | -604 | c.*41 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3599 | chr1 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137818824 | GCGCCATG others(597): Show |
G | intron_variant | MODIFIER | NA20805.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0133 | 2 | 170 | 0.0118 | -604 | c.354 others(18): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | chr9 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 675185 | TGAGGACA others(597): Show |
T | intron_variant | MODIFIER | NA19078.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0082a0001c0001t0002g0290 | 2 | 378 | 0.0053 | -604 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 675734 | TGAGGACA others(597): Show |
T | intron_variant | MODIFIER | HG01255.hp2 NA19088.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0095a0001c0002t0001g0089 | 2 | 378 | 0.0053 | -604 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| KLK4_chr19_50901351_50916395 | 50913778 | GTCTGTCC others(597): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01099.hp2 HG01106.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0003a0001c0001t0002g0045a0001c0001t0002g0109others(8): Show | 18 | 414 | 0.0435 | -604 | c.-30 others(11): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 2384 | chr19 | TogoVar | ||||||
| NRXN3_chr14_78165373_79873291 | 79087947 | TGTTTCTG others(597): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03516.hp1 NA19240.hp1 |
a0001 | a0001c0006a0001c0007 | a0001c0006t0017a0001c0007t0002 | a0001c0006t0017g0001a0001c0007t0002g0010a0001c0007t0002g0020 | 3 | 24 | 0.1250 | -604 | c.326 others(22): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | chr14 | TogoVar | ||||||
| PHLDB3_chr19_43470103_43509746 | 43477219 | CAAGAAAA others(597): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0028others(4): Show | 7 | 396 | 0.0177 | -604 | c.178 others(17): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 15/15 | chr19 | TogoVar | ||||||
| RPRML_chr17_46973156_46984253 | 46976179 | GCCTCCCA others(597): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp1 HG03486.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 2 | 452 | 0.0044 | -604 | c.*18 others(11): Show |
RPRML | ENSG00000179673.5 | transcript | ENST00000322329.5 | protein_coding | 1976 | chr17 | TogoVar | ||||||
| SKI_chr1_2223319_2315213 | 2281016 | CGGCGGCG others(597): Show |
C | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0080 | 1 | 330 | 0.0030 | -604 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SKI_chr1_2223319_2315213 | 2281178 | GGACAGGC others(597): Show |
G | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0310 | 1 | 330 | 0.0030 | -604 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SMYD3_chr1_245744347_246512279 | 246024408 | GAGATACA others(597): Show |
G | intron_variant | MODIFIER | NA18962.hp2 NA18971.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0101a0002c0003t0002g0102 | 2 | 150 | 0.0133 | -604 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| ZFYVE28_chr4_2264597_2423645 | 2396171 | ACAAGGTG others(597): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03490.hp2 HG03491.hp2 others(2): Show |
a0001a0003 | a0001c0002a0003c0010 | a0001c0002t0001a0001c0002t0003a0003c0010t0002 | a0001c0002t0001g0135a0001c0002t0001g0220a0001c0002t0003g0117others(2): Show | 5 | 290 | 0.0172 | -604 | c.39+ others(17): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 1/12 | chr4 | TogoVar |