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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2223): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 266 | 0.0038 | 2230 | c.178 others(2247): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1432080 | T | TCAGCAGT others(2224): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0252 | 1 | 291 | 0.0034 | 2231 | c.92- others(2246): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635186 | C | CCTTCCTT others(2224): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 244 | 0.0041 | 2231 | c.105 others(2246): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574458 | C | CGTGTGGG others(2224): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 169 | 0.0059 | 2231 | c.119 others(2250): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2224): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 4 | 0.2500 | 2231 | c.972 others(2244): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2224): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0264 | 1 | 4 | 0.2500 | 2231 | c.515 others(2248): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2224): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0010 | a0010c0038 | a0010c0038t0001 | a0010c0038t0001g0244 | 1 | 4 | 0.2500 | 2231 | c.515 others(2248): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585534 | C | CTTTCCAG others(2224): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 278 | 0.0036 | 2231 | c.215 others(2248): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917306 | G | GTTCGGCT others(2224): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 289 | 0.0035 | 2231 | c.218 others(2248): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | |||||||
ARID1B_chr6_156772378_157215779 | 157092780 | T | TGAAAATA others(2225): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0006 | 1 | 148 | 0.0068 | 2232 | c.249 others(2251): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2225): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 2 | 0.5000 | 2232 | c.44- others(2245): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050064 | T | TCACGACA others(2225): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0132 | 1 | 290 | 0.0034 | 2232 | c.103 others(2247): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(2225): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0044 | a0044c0048 | a0044c0048t0001 | a0044c0048t0001g0029 | 1 | 126 | 0.0079 | 2232 | c.193 others(2251): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(2225): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0078 | 1 | 11 | 0.0909 | 2232 | c.-16 others(2253): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877081 | T | TGGAGGTT others(2225): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0043 | 1 | 186 | 0.0054 | 2232 | c.224 others(2251): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2225): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0020 | a0020c0076 | a0020c0076t0001 | a0020c0076t0001g0150 | 1 | 36 | 0.0278 | 2232 | c.816 others(2249): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344647 | A | AGGGGACT others(2225): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 333 | 0.0030 | 2232 | c.4-1 others(2245): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646214 | T | TCCACCTG others(2225): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0100 | 1 | 128 | 0.0078 | 2232 | c.-35 others(2253): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744842 | C | CACAGCCC others(2225): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0032 | a0001c0032t0098 | a0001c0032t0098g0052 | 1 | 192 | 0.0052 | 2232 | c.655 others(2249): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377240 | G | GCCCCACC others(2225): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0168 | 1 | 287 | 0.0035 | 2232 | c.-12 others(2243): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1215 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2226): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0195 | 1 | 294 | 0.0034 | 2233 | c.147 others(2250): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(2226): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0025 | a0025c0053 | a0025c0053t0001 | a0025c0053t0001g0004 | 1 | 308 | 0.0032 | 2233 | c.300 others(2250): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2226): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 75 | 0.0133 | 2233 | c.*69 others(2244): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2226): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 75 | 0.0133 | 2233 | c.*69 others(2244): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2226): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 65 | 0.0154 | 2233 | c.4-1 others(2246): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2226): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 65 | 0.0154 | 2233 | c.4-1 others(2246): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
RRH_chr4_109822972_109849942 | 109839042 | T | TCTAATTT others(2226): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0087 | 1 | 393 | 0.0025 | 2233 | c.720 others(2250): Show |
RRH | ENSG00000180245.7 | transcript | ENST00000317735.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870297 | C | CTACACAC others(2226): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 96 | 0.0104 | 2233 | c.*35 others(2252): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2227): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 2 | 0.5000 | 2234 | c.44- others(2247): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2227): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02970.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 a0001c0002t0001g0031 |
4 | 5 | 0.8000 | 2234 | c.44- others(2247): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2227): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0203 a0001c0003t0001g0204 |
2 | 250 | 0.0080 | 2234 | c.228 others(2251): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2227): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 249 | 0.0040 | 2234 | c.228 others(2251): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706361 | G | GATACATA others(2227): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0007 | a0007c0030 | a0007c0030t0001 | a0007c0030t0001g0217 | 1 | 276 | 0.0036 | 2234 | c.228 others(2251): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2227): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0262 a0001c0004t0001g0263 |
2 | 319 | 0.0063 | 2234 | c.-50 others(2245): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706361 | G | GATACATA others(2227): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0045 | a0045c0094 | a0045c0094t0009 | a0045c0094t0009g0209 | 1 | 351 | 0.0028 | 2234 | c.-50 others(2245): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4839 | chr4 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670423 | T | TCCCTGCT others(2227): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0322 | 1 | 391 | 0.0026 | 2234 | c.129 others(2251): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2228): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0266 | 1 | 294 | 0.0034 | 2235 | c.147 others(2252): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758764 | T | TCACCTGC others(2228): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0041 | a0041c0059 | a0041c0059t0001 | a0041c0059t0001g0275 | 1 | 170 | 0.0059 | 2235 | c.654 others(2254): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399423 | A | ACCACCAC others(2228): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 287 | 0.0035 | 2235 | c.-25 others(2252): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
PRKG1_chr10_51069487_52303350 | 51432692 | T | TTTACGTC others(2228): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 64 | 0.0156 | 2235 | c.479 others(2254): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VSTM4_chr10_49009236_49120522 | 49021151 | C | CCTAAAAG others(2228): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0240 | 1 | 277 | 0.0036 | 2235 | c.838 others(2252): Show |
VSTM4 | ENSG00000165633.13 | transcript | ENST00000332853.9 | protein_coding | 7/7 | chr10 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(2229): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0095 | 1 | 233 | 0.0043 | 2236 | c.366 others(2253): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2229): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02145.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0009 | a0001c0001t0001g0027 a0001c0002t0002g0009 a0001c0002t0009g0017 |
3 | 18 | 0.1667 | 2236 | c.164 others(2255): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2229): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 1 | 2 | 0.5000 | 2236 | c.44- others(2249): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76501086 | T | TGGGAACT others(2229): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0009 | a0009c0014 | a0009c0014t0009 | a0009c0014t0009g0214 | 1 | 218 | 0.0046 | 2236 | c.146 others(2255): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76501086 | T | TGGGAACT others(2229): Show |
intron_variant | MODIFIER | HG02486.hp2 NA19043.hp2 |
a0009 | a0009c0014 | a0009c0014t0009 | a0009c0014t0009g0126 a0009c0014t0009g0129 |
2 | 219 | 0.0091 | 2236 | c.146 others(2255): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2229): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG02300.hp1 NA19065.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0032 a0001c0001t0001g0133 a0001c0001t0004g0137 |
4 | 64 | 0.0625 | 2236 | c.-11 others(2247): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439414 | C | CAGAGAGA others(2229): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0010 | a0010c0063 | a0010c0063t0036 | a0010c0063t0036g0115 | 1 | 201 | 0.0050 | 2236 | c.816 others(2253): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2229): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0201 | 1 | 224 | 0.0045 | 2236 | c.*39 others(2247): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGAG others(2229): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0010 | a0010c0010 | a0010c0010t0005 | a0010c0010t0005g0191 | 1 | 2 | 0.5000 | 2236 | c.801 others(2253): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar |