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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA8_chr10_47462993_47489115 | 47483962 | G | C | 5_prime_UTR_variant | MODIFIER | HG01192.hp1 HG01884.hp2 HG03209.hp2 |
a0007 | a0007c0013 | a0007c0013t0006 | a0007c0013t0006g0054 a0007c0013t0006g0186 |
3 | 410 | 0.0073 | 0 | c.-29 others(3): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 1/12 | 29 | chr10 | TogoVar | ||||||
ANXA8_chr10_47462993_47489115 | 47484081 | C | T | 5_prime_UTR_variant | MODIFIER | HG01192.hp1 HG01884.hp2 HG03209.hp2 others(1): Show |
a0002a0007 | a0002c0002a0007c0013 | a0002c0002t0008a0007c0013t0006 | a0002c0002t0008g0055 a0007c0013t0006g0054 a0007c0013t0006g0186 |
4 | 410 | 0.0098 | 0 | c.-14 others(4): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 1/12 | 148 | chr10 | TogoVar | ||||||
ANXA8_chr10_47462993_47489115 | 47484096 | T | C | 5_prime_UTR_variant | MODIFIER | HG01192.hp1 HG01884.hp2 HG03209.hp2 |
a0007 | a0007c0013 | a0007c0013t0006 | a0007c0013t0006g0054 a0007c0013t0006g0186 |
3 | 410 | 0.0073 | 0 | c.-16 others(4): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 1/12 | 163 | chr10 | TogoVar | ||||||
ANXA9_chr1_150977292_151000634 | 150982502 | C | G | 5_prime_UTR_variant | MODIFIER | HG02132.hp1 HG02165.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0001 a0001c0002t0003g0008 |
2 | 396 | 0.0051 | 0 | c.-98 others(3): Show |
ANXA9 | ENSG00000143412.10 | transcript | ENST00000368947.9 | protein_coding | 2/14 | 604 | chr1 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36724178 | C | T | 5_prime_UTR_variant | MODIFIER | NA18988.hp1 | a0003 | a0003c0008 | a0003c0008t0007 | a0003c0008t0007g0009 | 1 | 304 | 0.0033 | 0 | c.-30 others(3): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 1/21 | 30 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36724353 | C | T | 5_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02895.hp1 HG02897.hp1 others(4): Show |
a0001a0005 | a0001c0012a0005c0006 | a0001c0012t0006a0005c0006t0004 | a0001c0012t0006g0002 a0005c0006t0004g0003 a0005c0006t0004g0004 others(4): Show |
7 | 304 | 0.0230 | 0 | c.-20 others(4): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 1/21 | 205 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36724383 | A | G | 5_prime_UTR_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 304 | 0.0033 | 0 | c.-23 others(4): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 1/21 | 235 | chr7 | TogoVar | ||||||
AOC2_chr17_42839580_42855707 | 42844600 | T | C | 5_prime_UTR_variant | MODIFIER | HG03471.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 a0001c0001t0003g0053 |
2 | 288 | 0.0069 | 0 | c.-27 others(3): Show |
AOC2 | ENSG00000131480.9 | transcript | ENST00000253799.8 | protein_coding | 1/4 | 27 | chr17 | TogoVar | ||||||
AOC2_chr17_42839580_42855707 | 42844625 | C | A | 5_prime_UTR_variant | MODIFIER | HG01496.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 2 | 288 | 0.0069 | 0 | c.-2C others(2): Show |
AOC2 | ENSG00000131480.9 | transcript | ENST00000253799.8 | protein_coding | 1/4 | 2 | chr17 | TogoVar | ||||||
AOC3_chr17_42846199_42863124 | 42851320 | T | G | 5_prime_UTR_variant | MODIFIER | NA18939.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 2 | 282 | 0.0071 | 0 | c.-24 others(3): Show |
AOC3 | ENSG00000131471.7 | transcript | ENST00000308423.7 | protein_coding | 1/4 | 24 | chr17 | TogoVar | ||||||
AP1AR_chr4_112226787_112278110 | 112231805 | G | A | 5_prime_UTR_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0002 | 1 | 396 | 0.0025 | 0 | c.-28 others(4): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 1/10 | 287 | chr4 | TogoVar | ||||||
AP1AR_chr4_112226787_112278110 | 112231972 | G | A | 5_prime_UTR_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0004 | 1 | 396 | 0.0025 | 0 | c.-12 others(4): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 1/10 | 120 | chr4 | TogoVar | ||||||
AP1AR_chr4_112226787_112278110 | 112231987 | C | T | 5_prime_UTR_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0005 | 1 | 396 | 0.0025 | 0 | c.-10 others(4): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 1/10 | 105 | chr4 | TogoVar | ||||||
AP1AR_chr4_112226787_112278110 | 112232080 | G | A | 5_prime_UTR_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0060 | 1 | 396 | 0.0025 | 0 | c.-12 others(3): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 1/10 | 12 | chr4 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29388448 | G | A | 5_prime_UTR_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0357 | 1 | 376 | 0.0027 | 0 | c.-52 others(3): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/23 | 21205 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29388523 | C | G | 5_prime_UTR_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0014 | 1 | 376 | 0.0027 | 0 | c.-12 others(4): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/23 | 21280 | chr22 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16197975 | T | TCGCTGCC others(18): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(149): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(74): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0010 others(137): Show |
152 | 305 | 0.4984 | 25 | c.-43 others(32): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 1/12 | 18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16197975 | T | TCGCTGCC others(43): Show |
5_prime_UTR_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0155 | a0001c0001t0155g0208 | 1 | 154 | 0.0065 | 50 | c.-19 others(57): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 1/12 | 18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16198008 | G | GCCGCCAC others(18): Show |
5_prime_UTR_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0064 | 1 | 306 | 0.0033 | 25 | c.-19 others(32): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 1/12 | 18 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10587232 | G | T | 5_prime_UTR_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0045 | 1 | 392 | 0.0026 | 0 | c.-1C others(2): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/12 | 1 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10587259 | G | A | 5_prime_UTR_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0333 | 1 | 392 | 0.0026 | 0 | c.-28 others(3): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/12 | 28 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10587262 | A | G | 5_prime_UTR_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0334 | 1 | 392 | 0.0026 | 0 | c.-31 others(3): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/12 | 31 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10587263 | G | A | 5_prime_UTR_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0334 | 1 | 392 | 0.0026 | 0 | c.-32 others(3): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/12 | 32 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10587268 | C | G | 5_prime_UTR_variant | MODIFIER | HG02523.hp2 NA18946.hp1 NA18968.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007 | a0001c0002t0004g0017 a0001c0002t0004g0036 a0001c0002t0004g0038 others(7): Show |
11 | 392 | 0.0281 | 0 | c.-37 others(3): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/12 | 37 | chr19 | TogoVar | ||||||
AP1S1_chr7_101149476_101166276 | 101154509 | T | A | 5_prime_UTR_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0014 | 1 | 430 | 0.0023 | 0 | c.-6T others(2): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 1/5 | 6 | chr7 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49767008 | A | AGCCC | 5_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00642.hp2 others(42): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0002a0001c0006t0002a0001c0007t0002others(1): Show | a0001c0001t0002g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 others(41): Show |
45 | 340 | 0.1324 | 4 | c.-12 others(13): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/23 | 121 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 925940 | C | A | 5_prime_UTR_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0169 | 1 | 266 | 0.0038 | 0 | c.-82 others(3): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/22 | 82 | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 925949 | C | A | 5_prime_UTR_variant | MODIFIER | HG02056.hp2 HG02135.hp2 |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0189 a0001c0003t0008g0193 |
2 | 266 | 0.0075 | 0 | c.-73 others(3): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/22 | 73 | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 925967 | C | T | 5_prime_UTR_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0021 | 1 | 266 | 0.0038 | 0 | c.-55 others(3): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/22 | 55 | chr11 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35587338 | C | A | 5_prime_UTR_variant | MODIFIER | NA18942.hp2 NA19081.hp2 |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0190 a0001c0002t0011g0236 |
2 | 370 | 0.0054 | 0 | c.-11 others(4): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1/22 | 6693 | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46850816 | A | G | 5_prime_UTR_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057 | 1 | 422 | 0.0024 | 0 | c.-50 others(3): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 1/5 | 50 | chr19 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82709716 | A | T | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0021 | 1 | 366 | 0.0027 | 0 | c.-10 others(3): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/27 | 10 | chr15 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82709783 | G | GCCGGT | 5_prime_UTR_variant | MODIFIER | HG02083.hp2 NA18975.hp2 NA18979.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | 366 | 0.0137 | 5 | c.-82 others(12): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/27 | 78 | chr15 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82709806 | A | AGGC | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 |
3 | 366 | 0.0082 | 3 | c.-10 others(12): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/27 | 101 | chr15 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82709857 | G | A | 5_prime_UTR_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0357 | 1 | 366 | 0.0027 | 0 | c.-15 others(4): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/27 | 151 | chr15 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82709864 | C | T | 5_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01361.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 others(2): Show |
5 | 366 | 0.0137 | 0 | c.-15 others(4): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/27 | 158 | chr15 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2151432 | C | T | 5_prime_UTR_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0014 | a0001c0014t0013 | a0001c0014t0013g0008 | 1 | 404 | 0.0025 | 0 | c.-98 others(3): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/32 | 98 | chr19 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2151465 | G | A | 5_prime_UTR_variant | MODIFIER | NA19005.hp2 NA19065.hp1 |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0347 a0001c0003t0009g0348 |
2 | 404 | 0.0050 | 0 | c.-13 others(4): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/32 | 131 | chr19 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2151511 | G | C | 5_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(35): Show |
a0001 | a0001c0001a0001c0006a0001c0015others(1): Show | a0001c0001t0003a0001c0006t0015a0001c0015t0003others(1): Show | a0001c0001t0003g0006 a0001c0001t0003g0349 a0001c0001t0003g0350 others(34): Show |
38 | 404 | 0.0941 | 0 | c.-17 others(4): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/32 | 177 | chr19 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2151516 | G | A | 5_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01515.hp2 HG01517.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0010a0002c0007t0004 | a0001c0001t0010g0395 a0001c0001t0010g0396 a0002c0007t0004g0385 others(9): Show |
12 | 404 | 0.0297 | 0 | c.-18 others(4): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/32 | 182 | chr19 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2151535 | G | A | 5_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0007 | 2 | 404 | 0.0050 | 0 | c.-20 others(4): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/32 | 201 | chr19 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42153084 | G | A | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(177): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 others(87): Show |
180 | 389 | 0.4627 | 0 | c.-94 others(3): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 1/9 | 1604 | chr8 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42153084 | G | T | 5_prime_UTR_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0068 | 1 | 210 | 0.0048 | 0 | c.-94 others(3): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 1/9 | 1604 | chr8 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42153086 | G | C | 5_prime_UTR_variant | MODIFIER | HG01123.hp1 HG01346.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0014 | 4 | 390 | 0.0103 | 0 | c.-92 others(3): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 1/9 | 1602 | chr8 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42154668 | T | C | 5_prime_UTR_variant | MODIFIER | HG03490.hp2 HG03492.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0010 | 3 | 390 | 0.0077 | 0 | c.-20 others(3): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 2/9 | 20 | chr8 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115842024 | G | C | 5_prime_UTR_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 others(2): Show |
5 | 376 | 0.0133 | 0 | c.-14 others(3): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/6 | 14 | chr5 | TogoVar | ||||||
AP4B1_chr1_113889194_113909799 | 113904719 | T | G | 5_prime_UTR_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0081 | 1 | 432 | 0.0023 | 0 | c.-2A others(2): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 1/10 | 2 | chr1 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50908702 | C | T | 5_prime_UTR_variant | MODIFIER | NA18986.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0215 a0001c0001t0019g0230 |
2 | 390 | 0.0051 | 0 | c.-77 others(3): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 1/21 | 77 | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50908713 | GGCCGGGC others(5): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0306 | 1 | 390 | 0.0026 | -12 | c.-58 others(19): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 1/21 | 47 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50908741 | G | GATCGCGG others(11): Show |
5_prime_UTR_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0008 | 1 | 390 | 0.0026 | 18 | c.-19 others(24): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 1/21 | 1 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |