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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIK3C2A_chr11_17081575_17212986 | 17182674 | AGGCTAAA others(36): Show |
A | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 340 | 0.0029 | -43 | c.-65 others(62): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
PIK3CB_chr3_138647698_138839928 | 138693936 | AATATATA others(36): Show |
A | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 162 | 0.0062 | -43 | c.189 others(60): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 14/23 | chr3 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8827742 | GGAGAGAG others(36): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02615.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0056 a0001c0001t0001g0078 others(2): Show |
5 | 322 | 0.0155 | -43 | c.139 others(60): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 12/19 | chr17 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3669944 | GCTGGGGT others(36): Show |
G | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0190 | 1 | 330 | 0.0030 | -43 | c.95- others(58): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6560561 | CTCCTCCT others(36): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 215 | 0.0047 | -43 | c.-41 others(54): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4007 | chr17 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100315001 | AGGAAGGA others(36): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02056.hp2 HG03927.hp1 others(2): Show |
a0001a0015 | a0001c0001a0015c0031 | a0001c0001t0001a0015c0031t0001 | a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0197 others(2): Show |
5 | 153 | 0.0327 | -43 | c.349 others(62): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKLR_chr1_155284293_155306438 | 155298953 | CCTTTCTT others(36): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0129 a0001c0002t0002g0131 |
2 | 215 | 0.0093 | -43 | c.283 others(60): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
PKN1_chr19_14428306_14476859 | 14468046 | ACAGGGAG others(36): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0283 | 1 | 374 | 0.0027 | -43 | c.197 others(59): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 15/21 | chr19 | TogoVar | |||||||
PKNOX2_chr11_125159751_125438389 | 125431911 | CAGAGGAG others(36): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0198 | 1 | 220 | 0.0045 | -43 | c.*52 others(52): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 13/13 | 521 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP2_chr12_32785755_32901777 | 32858110 | TATATATT others(36): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0142 | 1 | 340 | 0.0029 | -43 | c.117 others(62): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401766 | CCCCGCCC others(36): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0120 | 1 | 187 | 0.0053 | -43 | c.173 others(62): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLAA_chr9_26898372_26952242 | 26925615 | ATTGACTG others(36): Show |
A | intron_variant | MODIFIER | HG03540.hp1 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0045 a0001c0002t0009g0046 |
2 | 372 | 0.0054 | -43 | c.869 others(58): Show |
PLAA | ENSG00000137055.15 | transcript | ENST00000397292.8 | protein_coding | 6/13 | chr9 | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8821493 | AAAAATAT others(36): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0021 | a0001c0001t0011a0001c0006t0003a0001c0006t0006others(1): Show | a0001c0001t0011g0030 a0001c0006t0003g0017 a0001c0006t0006g0024 others(1): Show |
4 | 87 | 0.0460 | -43 | c.342 others(64): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCH2_chr1_2471289_2510532 | 2483847 | CCCCGTGT others(36): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(42): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0023others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0211 a0001c0001t0002g0039 a0001c0001t0002g0151 others(18): Show |
45 | 378 | 0.1190 | -43 | c.646 others(58): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLCH2_chr1_2471289_2510532 | 2483902 | GGGCGCTG others(36): Show |
G | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0206 | 1 | 378 | 0.0026 | -43 | c.646 others(58): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764868 | AAAGAAAG others(36): Show |
A | intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0167 | 1 | 290 | 0.0034 | -43 | c.-31 others(62): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764871 | GAAAGAAA others(36): Show |
G | intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0066 | 1 | 289 | 0.0035 | -43 | c.-31 others(62): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD2_chr17_4802152_4828430 | 4827487 | TTCTGTGC others(36): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 448 | 0.0022 | -43 | c.*46 others(54): Show |
PLD2 | ENSG00000129219.14 | transcript | ENST00000263088.11 | protein_coding | 4058 | chr17 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242208740 | ACCCCAAG others(36): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 186 | 0.0054 | -43 | c.735 others(62): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLEC_chr8_143910153_143944597 | 143944491 | ACCAGGGC others(36): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0006 | a0006c0110 | a0006c0110t0004 | a0006c0110t0004g0112 | 1 | 356 | 0.0028 | -43 | c.-50 others(54): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000345136.8 | protein_coding | 4895 | chr8 | TogoVar | |||||||
PLEK2_chr14_67381984_67417165 | 67415122 | AATACATT others(36): Show |
A | upstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | -43 | c.-31 others(54): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2958 | chr14 | TogoVar | |||||||
PLEKHG1_chr6_150594885_150848665 | 150810492 | GAAGGAGG others(36): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02486.hp1 NA18942.hp2 others(4): Show |
a0001a0003a0020 | a0001c0003a0001c0004a0001c0017others(3): Show | a0001c0003t0001a0001c0004t0008a0001c0017t0001others(3): Show | a0001c0003t0001g0100 a0001c0004t0008g0094 a0001c0017t0001g0004 others(4): Show |
7 | 269 | 0.0260 | -43 | c.127 others(60): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 111885 | AGGCCCAC others(36): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01192.hp1 others(3): Show |
a0001a0002a0006 | a0001c0002a0002c0003a0002c0005others(1): Show | a0001c0002t0079a0002c0003t0001a0002c0005t0013others(2): Show | a0001c0002t0079g0125 a0002c0003t0001g0097 a0002c0003t0001g0099 others(3): Show |
6 | 208 | 0.0288 | -43 | c.46- others(58): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHM1_chr17_45430900_45495721 | 45433560 | GAGGAACT others(36): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01099.hp1 others(26): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0032 others(19): Show |
29 | 324 | 0.0895 | -43 | c.*42 others(54): Show |
PLEKHM1 | ENSG00000225190.12 | transcript | ENST00000430334.8 | protein_coding | 2339 | chr17 | TogoVar | |||||||
PLEKHS1_chr10_113746682_113788429 | 113785329 | TATATATA others(36): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00558.hp2 others(94): Show |
a0001a0002a0003 | a0001c0004a0001c0007a0001c0008others(3): Show | a0001c0004t0011a0001c0004t0032a0001c0007t0002others(8): Show | a0001c0004t0011g0154 a0001c0004t0032g0087 a0001c0007t0002g0037 others(58): Show |
97 | 400 | 0.2425 | -43 | c.*45 others(54): Show |
PLEKHS1 | ENSG00000148735.16 | transcript | ENST00000694986.1 | protein_coding | 1901 | chr10 | TogoVar | |||||||
PLIN5_chr19_4517531_4540224 | 4535190 | AGCTGTCT others(36): Show |
A | 5_prime_UTR_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0256 | 1 | 410 | 0.0024 | -43 | c.-90 others(50): Show |
PLIN5 | ENSG00000214456.8 | transcript | ENST00000381848.7 | protein_coding | 1/8 | 1117 | chr19 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50285281 | ACCAACCG others(36): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02647.hp1 HG02965.hp1 others(2): Show |
a0002a0004 | a0002c0007a0004c0008 | a0002c0007t0001a0004c0008t0001 | a0002c0007t0001g0251 a0004c0008t0001g0249 a0004c0008t0001g0250 others(2): Show |
5 | 300 | 0.0167 | -43 | c.208 others(60): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50285415 | ACCCCCTC others(36): Show |
A | intron_variant | MODIFIER | NA18967.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0092 | 1 | 207 | 0.0048 | -43 | c.208 others(60): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | |||||||
PNPLA5_chr22_43874678_43897013 | 43881996 | ACAGCCCA others(36): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 436 | 0.0023 | -43 | c.108 others(60): Show |
PNPLA5 | ENSG00000100341.13 | transcript | ENST00000216177.9 | protein_coding | 7/8 | chr22 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137533258 | CCAACAGT others(36): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 HG03540.hp2 |
a0005 | a0005c0007a0005c0053 | a0005c0007t0001a0005c0053t0001 | a0005c0007t0001g0181 a0005c0007t0001g0182 a0005c0053t0001g0132 |
3 | 186 | 0.0161 | -43 | c.747 others(60): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 8/34 | chr9 | TogoVar | |||||||
POLE_chr12_132618762_132692342 | 132692299 | TGCCAGTT others(36): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0039 | a0001c0039t0010 | a0001c0039t0010g0016 | 1 | 290 | 0.0034 | -43 | c.-50 others(54): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 4958 | chr12 | TogoVar | |||||||
POM121C_chr7_75411786_75491299 | 75484451 | CCTCAAGT others(36): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0036 | 1 | 306 | 0.0033 | -43 | c.-45 others(62): Show |
POM121C | ENSG00000272391.6 | transcript | ENST00000615331.5 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
POP5_chr12_120573764_120586402 | 120585489 | CAGTAGCT others(36): Show |
C | upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 390 | 0.0026 | -43 | c.-41 others(54): Show |
POP5 | ENSG00000167272.11 | transcript | ENST00000357500.5 | protein_coding | 4088 | chr12 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706426 | TCTCTACA others(36): Show |
T | downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | -43 | c.*36 others(54): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3571 | chr1 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706430 | TACACACA others(36): Show |
T | downstream_gene_variant | MODIFIER | NA18970.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 407 | 0.0049 | -43 | c.*36 others(54): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3567 | chr1 | TogoVar | |||||||
PPP1R8_chr1_27825782_27856676 | 27850009 | GGAATAGA others(36): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0093 | 1 | 337 | 0.0030 | -43 | c.703 others(56): Show |
PPP1R8 | ENSG00000117751.18 | transcript | ENST00000311772.10 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 339607 | GGAGGAGC others(36): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0004 | a0004c0010 | a0004c0010t0008 | a0004c0010t0008g0024 | 1 | 24 | 0.0417 | -43 | c.135 others(60): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 10/12 | chrX | TogoVar | |||||||
PPP4R3C_chrX_27455207_27468341 | 27458898 | CCGGCGGC others(36): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02451.hp1 others(2): Show |
a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0000 | 5 | 323 | 0.0155 | -43 | c.*18 others(54): Show |
PPP4R3C | ENSG00000224960.5 | transcript | ENST00000412172.4 | protein_coding | 1308 | chrX | TogoVar | |||||||
PPP5C_chr19_46342087_46395975 | 46389361 | AAACACAC others(36): Show |
A | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 377 | 0.0027 | -43 | c.135 others(60): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP5C_chr19_46342087_46395975 | 46389416 | CACACACA others(36): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0104 |
2 | 392 | 0.0051 | -43 | c.135 others(60): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50344478 | CCCCCCAG others(36): Show |
C | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0305 a0002c0004t0009g0306 |
2 | 338 | 0.0059 | -43 | c.-14 others(60): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41806249 | CCACCACC others(36): Show |
C | intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0214 | 1 | 400 | 0.0025 | -43 | c.265 others(62): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41855960 | CCCTCCCT others(36): Show |
C | intron_variant | MODIFIER | HG02074.hp1 NA18612.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0037 | a0001c0003t0001g0072 a0001c0003t0037g0071 |
2 | 402 | 0.0050 | -43 | c.285 others(60): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151714449 | CCGTCCTC others(36): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG01069.hp1 others(25): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0043 a0001c0001t0001g0090 a0001c0001t0001g0093 others(25): Show |
28 | 250 | 0.1120 | -43 | c.467 others(62): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151837990 | TGGAGGAG others(36): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 250 | 0.0040 | -43 | c.114 others(62): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151842266 | AGGTAGTG others(36): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG01106.hp1 others(58): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0043 others(58): Show |
61 | 249 | 0.2450 | -43 | c.114 others(62): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCE_chr2_45646675_46192990 | 45744457 | CTTTCTTT others(36): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 166 | 0.0060 | -43 | c.348 others(62): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45744492 | TTTCTTTC others(36): Show |
T | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0040 | 1 | 160 | 0.0063 | -43 | c.348 others(62): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2142364 | CAGCAGCC others(36): Show |
C | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0134 | 1 | 284 | 0.0035 | -43 | c.421 others(60): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2172918 | TGTGTGCG others(36): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0157 | 1 | 284 | 0.0035 | -43 | c.128 others(60): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |