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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PI4K2A_chr10_97635671_97681434 | 97678880 | GGTGTGTG others(45): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01496.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0005a0001c0003t0003others(1): Show | a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0148 others(5): Show |
8 | 151 | 0.0530 | -52 | c.*51 others(63): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229059284 | TCCCACAC others(45): Show |
T | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 254 | 0.0039 | -52 | c.178 others(71): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PIDD1_chr11_794184_810231 | 801741 | GAGCAGGA others(45): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02486.hp1 others(9): Show |
a0001a0003a0009 | a0001c0001a0003c0005a0003c0033others(1): Show | a0001c0001t0001a0003c0005t0001a0003c0033t0001others(1): Show | a0001c0001t0001g0039 a0003c0005t0001g0011 a0003c0005t0001g0019 others(2): Show |
12 | 406 | 0.0296 | -52 | c.130 others(69): Show |
PIDD1 | ENSG00000177595.19 | transcript | ENST00000347755.10 | protein_coding | 7/15 | chr11 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10720391 | GTGTGTGT others(45): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01123.hp1 HG01192.hp2 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0007a0001c0028a0002c0001others(6): Show | a0001c0007t0001a0001c0028t0001a0002c0001t0001others(7): Show | a0001c0007t0001g0041 a0001c0007t0001g0101 a0001c0007t0001g0122 others(12): Show |
15 | 154 | 0.0974 | -52 | c.503 others(71): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10720393 | GTGTGTGT others(45): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0015 | 1 | 155 | 0.0065 | -52 | c.503 others(71): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631741 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 others(4): Show |
7 | 309 | 0.0227 | -52 | c.529 others(69): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631743 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02896.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0262 a0001c0001t0001g0264 |
3 | 318 | 0.0094 | -52 | c.529 others(69): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGZ_chr3_196941356_196973833 | 196948985 | CCCTTCCT others(45): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0060 | 1 | 385 | 0.0026 | -52 | c.212 others(67): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
PIK3C2G_chr12_18256518_18653416 | 18650702 | GTGTATAT others(45): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02895.hp1 HG02897.hp1 |
a0003a0004 | a0003c0009a0004c0015 | a0003c0009t0001a0004c0015t0001 | a0003c0009t0001g0068 a0003c0009t0001g0071 a0004c0015t0001g0069 |
3 | 155 | 0.0194 | -52 | c.*26 others(63): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2287 | chr12 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100314997 | AGGAAGGA others(45): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02129.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0229 a0001c0001t0001g0254 |
3 | 265 | 0.0113 | -52 | c.349 others(71): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKM_chr15_72194029_72236190 | 72209407 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG03195.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0114 |
2 | 368 | 0.0054 | -52 | c.565 others(67): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 5/10 | chr15 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402134 | GGCTCCAC others(45): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0007 | 1 | 212 | 0.0047 | -52 | c.173 others(69): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402592 | CCCCGCTC others(45): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 212 | 0.0047 | -52 | c.173 others(69): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402654 | CCCCCGAC others(45): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0050 | 1 | 214 | 0.0047 | -52 | c.173 others(69): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLA2G4A_chr1_186823949_186993981 | 186958111 | AATGACCC others(45): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 308 | 0.0032 | -52 | c.157 others(71): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLCE1_chr10_93988931_94337823 | 94141590 | GCTAAGGG others(45): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01123.hp2 others(19): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0004others(9): Show | a0001c0001t0029a0001c0001t0033a0001c0001t0082others(16): Show | a0001c0001t0029g0082 a0001c0001t0033g0079 a0001c0001t0082g0003 others(19): Show |
22 | 116 | 0.1897 | -52 | c.149 others(71): Show |
PLCE1 | ENSG00000138193.17 | transcript | ENST00000371380.8 | protein_coding | 3/32 | chr10 | TogoVar | |||||||
PLCH1_chr3_155474881_155750071 | 155566184 | CATATATA others(45): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0003g0020 others(3): Show |
6 | 249 | 0.0241 | -52 | c.866 others(69): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 7/22 | chr3 | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 298091 | GACATTAT others(45): Show |
G | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0055 | 1 | 172 | 0.0058 | -52 | c.734 others(68): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | chrX | TogoVar | |||||||
PLCZ1_chr12_18678180_18743012 | 18686475 | CATGTTTA others(45): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 324 | 0.0031 | -52 | c.159 others(71): Show |
PLCZ1 | ENSG00000139151.16 | transcript | ENST00000266505.12 | protein_coding | 13/14 | chr12 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764872 | AAAGAAAG others(45): Show |
A | intron_variant | MODIFIER | HG04228.hp1 NA18968.hp2 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0005 | a0002c0003t0003g0160 a0002c0003t0005g0165 |
2 | 285 | 0.0070 | -52 | c.-31 others(71): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242165328 | TATTTATG others(45): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0066 | a0001c0002t0066g0132 | 1 | 186 | 0.0054 | -52 | c.736 others(71): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242194566 | ATATCTAT others(45): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG02027.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(8): Show | a0001c0001t0001g0096 a0001c0001t0004g0056 a0001c0001t0010g0084 others(9): Show |
12 | 128 | 0.0938 | -52 | c.735 others(71): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 146090 | AGTCCTCC others(45): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0031 | a0031c0060 | a0031c0060t0020 | a0031c0060t0020g0187 | 1 | 208 | 0.0048 | -52 | c.190 others(71): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 165251 | CGGGGCGG others(45): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(16): Show |
a0002a0004a0024 | a0002c0003a0002c0005a0004c0006others(2): Show | a0002c0003t0008a0002c0003t0013a0002c0003t0033others(14): Show | a0002c0003t0008g0208 a0002c0003t0013g0094 a0002c0003t0033g0018 others(16): Show |
19 | 187 | 0.1016 | -52 | c.347 others(71): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | chr5 | TogoVar | |||||||
PLGRKT_chr9_5352971_5442925 | 5442011 | CATGTGTG others(45): Show |
C | upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 342 | 0.0029 | -52 | c.-44 others(63): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 4087 | chr9 | TogoVar | |||||||
PLGRKT_chr9_5352971_5442925 | 5442037 | CGTGTGTA others(45): Show |
C | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 263 | 0.0038 | -52 | c.-44 others(63): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 4113 | chr9 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 19943676 | CCTAAAGA others(45): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0124 | 1 | 178 | 0.0056 | -52 | c.113 others(71): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20014379 | CTTGCTTC others(45): Show |
C | intron_variant | MODIFIER | NA18954.hp2 | a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0115 | 1 | 178 | 0.0056 | -52 | c.324 others(71): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXNC1_chr12_94143577_94312675 | 94177200 | CGTATATA others(45): Show |
C | intron_variant | MODIFIER | HG02602.hp1 HG03239.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0002 | a0001c0002t0001g0269 a0001c0005t0002g0268 |
2 | 291 | 0.0069 | -52 | c.120 others(71): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
POLR3G_chr5_90469864_90519557 | 90516606 | AAATTCAT others(45): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0140 | 1 | 364 | 0.0027 | -52 | c.*44 others(63): Show |
POLR3G | ENSG00000113356.13 | transcript | ENST00000651687.1 | protein_coding | 2050 | chr5 | TogoVar | |||||||
POM121_chr7_72920095_72953299 | 72947873 | GAGTGGTG others(45): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02809.hp1 HG03453.hp2 |
a0012 | a0012c0023 | a0012c0023t0023a0012c0023t0050 | a0012c0023t0023g0015 a0012c0023t0050g0015 |
3 | 422 | 0.0071 | -52 | c.*16 others(63): Show |
POM121 | ENSG00000196313.13 | transcript | ENST00000434423.5 | protein_coding | 13/13 | 1640 | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75988749 | GGGGGGCT others(45): Show |
G | downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0252 | 1 | 270 | 0.0037 | -52 | c.*22 others(63): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1895 | chr7 | TogoVar | |||||||
POTEM_chr14_18962434_19008752 | 18969283 | ACACATGT others(45): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0021 | a0021c0019 | a0021c0019t0009 | a0021c0019t0009g0002 | 1 | 65 | 0.0154 | -52 | c.521 others(69): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
POU2AF1_chr11_111347255_111384275 | 111352963 | GAGGAAGG others(45): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0004 | a0002c0004t0026 | a0002c0004t0026g0257 | 1 | 245 | 0.0041 | -52 | c.*12 others(63): Show |
POU2AF1 | ENSG00000110777.12 | transcript | ENST00000393067.8 | protein_coding | 5/5 | 1246 | chr11 | TogoVar | ||||||
PPM1J_chr1_112704998_112720332 | 112706462 | CACCACAC others(45): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp2 HG01256.hp2 HG01258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 5 | 356 | 0.0140 | -52 | c.*36 others(63): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3535 | chr1 | TogoVar | |||||||
PPP1R16A_chr8_144472982_144507121 | 144488132 | TTGCTTTG others(45): Show |
T | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 354 | 0.0028 | -52 | c.-91 others(71): Show |
PPP1R16A | ENSG00000160972.10 | transcript | ENST00000435887.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP1R8_chr1_27825782_27856676 | 27854461 | TGCCCGGC others(45): Show |
T | downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 338 | 0.0030 | -52 | c.*40 others(63): Show |
PPP1R8 | ENSG00000117751.18 | transcript | ENST00000311772.10 | protein_coding | 2786 | chr1 | TogoVar | |||||||
PPP2R5B_chr11_64919689_64939475 | 64933190 | GATGAATG others(45): Show |
G | frameshift_variant | HIGH | NA19065.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0045 | 1 | 426 | 0.0023 | -52 | c.129 others(61): Show |
p.Met others(5): Show |
PPP2R5B | ENSG00000068971.14 | transcript | ENST00000164133.7 | protein_coding | 13/14 | 1896/2729 | 1292/1494 | 431/497 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
PPP2R5E_chr14_63366364_63548377 | 63430349 | ACATACAT others(45): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02040.hp2 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0003g0149 others(1): Show |
4 | 239 | 0.0167 | -52 | c.355 others(69): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 3/13 | chr14 | TogoVar | |||||||
PPP5C_chr19_46342087_46395975 | 46389362 | AACACACA others(45): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG01496.hp1 others(31): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(31): Show |
34 | 92 | 0.3696 | -52 | c.135 others(69): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP6R1_chr19_55224779_55264017 | 55260762 | TTTAATGA others(45): Show |
T | upstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 376 | 0.0027 | -52 | c.-23 others(63): Show |
PPP6R1 | ENSG00000105063.19 | transcript | ENST00000412770.7 | protein_coding | 1746 | chr19 | TogoVar | |||||||
PRAMEF7_chr1_12911610_12925751 | 12915512 | TCTTTCTT others(45): Show |
T | upstream_gene_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0016 | 1 | 254 | 0.0039 | -52 | c.-12 others(63): Show |
PRAMEF7 | ENSG00000204510.6 | transcript | ENST00000697200.1 | protein_coding | 1097 | chr1 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41806267 | CCCATCAC others(45): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0049 | a0001c0049t0044 | a0001c0049t0044g0233 | 1 | 372 | 0.0027 | -52 | c.265 others(71): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3181828 | ACACATTC others(45): Show |
A | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 208 | 0.0048 | -52 | c.38- others(67): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3264385 | GGAGGAAA others(45): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0023a0001c0008t0085others(3): Show | a0001c0001t0001g0006 a0001c0001t0023g0072 a0001c0008t0085g0003 others(3): Show |
6 | 208 | 0.0288 | -52 | c.438 others(71): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089102 | TCTCTCTC others(45): Show |
T | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0228 | 1 | 306 | 0.0033 | -52 | c.-43 others(61): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 138 | chr5 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23865483 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02615.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0005a0001c0006a0001c0009others(1): Show | a0001c0005t0006a0001c0006t0039a0001c0009t0073others(1): Show | a0001c0005t0006g0028 a0001c0006t0039g0025 a0001c0009t0073g0031 others(1): Show |
4 | 146 | 0.0274 | -52 | c.205 others(71): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23865497 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0016 | 1 | 142 | 0.0070 | -52 | c.205 others(71): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161350714 | TATTTTTA others(45): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 32 | 0.0313 | -52 | c.128 others(69): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 11/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161944030 | AATCAGCC others(45): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 28 | 0.0357 | -52 | c.734 others(71): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar |