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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1047): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0089 | 1 | 203 | 0.0049 | 1054 | c.279 others(1071): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1047): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02572.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0032a0003c0012 | a0001c0001t0001a0001c0032t0001a0003c0012t0002 | a0001c0001t0001g0043a0001c0001t0001g0069a0001c0001t0001g0070others(5): Show | 8 | 203 | 0.0394 | 1054 | c.279 others(1071): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1047): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0012 | 1 | 203 | 0.0049 | 1054 | c.279 others(1071): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1290128 | C | CCCCGTGT others(1047): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0026 | 1 | 290 | 0.0035 | 1054 | c.166 others(1071): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC44A5_chr1_75197129_75616114 | 75280140 | A | ATATATAG others(1047): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0081 | 1 | 156 | 0.0064 | 1054 | c.176 others(1071): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325271 | G | GGGGGCGG others(1047): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 150 | 0.0067 | 1054 | c.531 others(1071): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747895 | G | GCACTGGG others(1047): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0127 | 1 | 314 | 0.0032 | 1054 | c.189 others(1069): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747895 | G | GCTGGGGT others(1047): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0158 | 1 | 314 | 0.0032 | 1054 | c.189 others(1069): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870451 | A | ACACCCCA others(1047): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 338 | 0.0030 | 1054 | c.*35 others(1073): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870794 | A | ACACCCCA others(1047): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 338 | 0.0030 | 1054 | c.*35 others(1073): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(1047): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 344 | 0.0029 | 1054 | c.218 others(1071): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
VCX3A_chrX_6528618_6540118 | 6532869 | A | ACACCTCC others(1047): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 74 | 0.0135 | 1054 | c.*87 others(1063): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 748 | chrX | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(1048): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0088 | 1 | 268 | 0.0037 | 1055 | c.62+ others(1068): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(1048): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0113 | 1 | 268 | 0.0037 | 1055 | c.62+ others(1068): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 980172 | G | GGTGCCGT others(1048): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0205 | 1 | 268 | 0.0037 | 1055 | c.604 others(1070): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1048): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0149 | 1 | 238 | 0.0042 | 1055 | c.787 others(1070): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687370 | C | CCCCGTGA others(1048): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 246 | 0.0041 | 1055 | c.-17 others(1066): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1525 | chr8 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374842 | G | GAGGGAGG others(1048): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0072 | 1 | 184 | 0.0054 | 1055 | c.784 others(1070): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181908 | T | TCACACAC others(1048): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0402 | 1 | 460 | 0.0022 | 1055 | c.193 others(1072): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647332 | A | ACCCCTAC others(1048): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 276 | 0.0036 | 1055 | c.*51 others(1066): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1988 | chr15 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(1048): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0068 | 1 | 216 | 0.0046 | 1055 | c.923 others(1074): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438432 | A | AGGAGGAG others(1048): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0009 | a0009c0142 | a0009c0142t0001 | a0009c0142t0001g0035 | 1 | 252 | 0.0040 | 1055 | c.118 others(1074): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400472 | C | CCTCCACC others(1048): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0066 | a0001c0066t0014 | a0001c0066t0014g0084 | 1 | 256 | 0.0039 | 1055 | c.323 others(1074): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400472 | C | CCTCCACC others(1048): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01981.hp1 HG01993.hp2 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0032a0002c0005others(9): Show | a0001c0002t0001a0001c0032t0006a0002c0005t0001others(9): Show | a0001c0002t0001g0090a0001c0032t0006g0127a0002c0005t0001g0191others(10): Show | 13 | 256 | 0.0508 | 1055 | c.323 others(1074): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1048): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0272 | 1 | 292 | 0.0034 | 1055 | c.228 others(1072): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1048): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0005 | a0005c0067 | a0005c0067t0001 | a0005c0067t0001g0274 | 1 | 292 | 0.0034 | 1055 | c.228 others(1072): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1048): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0252 | 1 | 292 | 0.0034 | 1055 | c.228 others(1072): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1048): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02132.hp2 HG02735.hp1 others(6): Show |
a0003a0005a0011 | a0003c0006a0003c0013a0003c0069others(3): Show | a0003c0006t0002a0003c0013t0002a0003c0069t0002others(3): Show | a0003c0006t0002g0258a0003c0006t0002g0261a0003c0006t0002g0262others(6): Show | 9 | 292 | 0.0308 | 1055 | c.228 others(1072): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1048): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0045 | 1 | 369 | 0.0027 | 1055 | c.-49 others(1066): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1048): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 HG02148.hp2 HG03490.hp1 others(1): Show |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0003a0003c0001t0002 | a0002c0003t0003g0037a0003c0001t0002g0027a0003c0001t0002g0028others(1): Show | 4 | 369 | 0.0108 | 1055 | c.-49 others(1066): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1048): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG02132.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0059others(4): Show | a0001c0002t0002a0001c0002t0003a0001c0004t0001others(6): Show | a0001c0002t0002g0060a0001c0002t0003g0057a0001c0004t0001g0007others(10): Show | 13 | 369 | 0.0352 | 1055 | c.-49 others(1066): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1048): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 350 | 0.0029 | 1055 | c.94- others(1068): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(1048): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 | 1 | 388 | 0.0026 | 1055 | c.105 others(1072): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
LDLRAD3_chr11_35939062_36237136 | 36055108 | A | AGAGGGAT others(1048): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01952.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0191a0002c0003t0002g0225 | 2 | 236 | 0.0085 | 1055 | c.193 others(1074): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(1048): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01433.hp1 HG01515.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0004 | a0001c0002t0001g0112a0001c0002t0002g0071a0001c0002t0002g0110others(1): Show | 4 | 250 | 0.0160 | 1055 | c.225 others(1072): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1048): Show |
intron_variant | MODIFIER | HG02717.hp1 NA19030.hp1 NA19043.hp2 others(1): Show |
a0004a0026a0055others(1): Show | a0004c0090a0026c0091a0055c0057others(1): Show | a0004c0090t0001a0026c0091t0002a0055c0057t0002others(1): Show | a0004c0090t0001g0018a0026c0091t0002g0082a0055c0057t0002g0077others(1): Show | 4 | 228 | 0.0175 | 1055 | c.252 others(1074): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1048): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 312 | 0.0032 | 1055 | c.306 others(1074): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1048): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 304 | 0.0033 | 1055 | c.347 others(1070): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1048): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0236 | 2 | 304 | 0.0066 | 1055 | c.347 others(1070): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(1048): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0184 | 1 | 314 | 0.0032 | 1055 | c.916 others(1072): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(1048): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0010 | a0010c0033 | a0010c0033t0003 | a0010c0033t0003g0305 | 1 | 314 | 0.0032 | 1055 | c.916 others(1072): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(1048): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 324 | 0.0031 | 1055 | c.115 others(1072): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1048): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03516.hp1 |
a0001 | a0001c0004a0001c0009 | a0001c0004t0005a0001c0009t0005 | a0001c0004t0005g0311a0001c0009t0005g0313 | 2 | 394 | 0.0051 | 1055 | c.129 others(1072): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1048): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0314 | 1 | 394 | 0.0025 | 1055 | c.129 others(1072): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(1049): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 262 | 0.0038 | 1056 | c.106 others(1075): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980100 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0259 | 1 | 268 | 0.0037 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 980100 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19085.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0193a0001c0003t0002g0210 | 2 | 268 | 0.0075 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 980133 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0190 | 1 | 268 | 0.0037 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 980133 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0267 | 1 | 268 | 0.0037 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 980133 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0167 | 1 | 268 | 0.0037 | 1056 | c.604 others(1072): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |