| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NACC2_chr9_136001537_136100289 | 136023099 | A | AGGAAGGA others(241): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02300.hp1 |
a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0024a0001c0010t0005g0028 | 2 | 348 | 0.0058 | 248 | c.887 others(265): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
| NCAM2_chr21_20993409_21548329 | 21146928 | C | CGCTGCCT others(241): Show |
intron_variant | MODIFIER | HG03139.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0036 | a0001c0001t0002g0116a0001c0004t0036g0071 | 2 | 132 | 0.0152 | 248 | c.56- others(267): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| NCAM2_chr21_20993409_21548329 | 21265015 | T | TTATATAT others(241): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0008 | a0002c0008t0015 | a0002c0008t0015g0129 | 1 | 132 | 0.0076 | 248 | c.56- others(265): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| NCAPH2_chr22_50503224_50529780 | 50504140 | A | ACCCCCCC others(241): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 384 | 0.0026 | 248 | c.-41 others(259): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4083 | chr22 | TogoVar | ||||||
| NEGR1_chr1_71390943_72287539 | 71793264 | A | ATATATAT others(241): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(2): Show | a0001c0001t0001g0034a0001c0001t0003g0002a0001c0001t0018g0001others(2): Show | 5 | 64 | 0.0781 | 248 | c.410 others(267): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
| NEGR1_chr1_71390943_72287539 | 71793264 | A | ATATATAT others(241): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 64 | 0.0156 | 248 | c.410 others(267): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
| NINJ2_chr12_559296_668445 | 577423 | A | ATATACAT others(241): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 404 | 0.0025 | 248 | c.34- others(265): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
| NLRP8_chr19_55942832_55993629 | 55993509 | C | CCCCCCCT others(241): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0170 | 1 | 350 | 0.0029 | 248 | c.*55 others(259): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4881 | chr19 | TogoVar | ||||||
| NRIP1_chr21_14956235_15070000 | 15031103 | C | CACATTCC others(241): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02145.hp2 HG02280.hp2 others(7): Show |
a0001a0012 | a0001c0001a0001c0002a0012c0012 | a0001c0001t0001a0001c0002t0008a0001c0002t0023others(1): Show | a0001c0001t0001g0162a0001c0001t0001g0177a0001c0001t0001g0178others(7): Show | 10 | 398 | 0.0251 | 248 | c.-45 others(269): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
| NRIP1_chr21_14956235_15070000 | 15031103 | C | CACATTCC others(241): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 398 | 0.0025 | 248 | c.-45 others(269): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
| NRIP1_chr21_14956235_15070000 | 15031243 | G | GGAGGGTC others(241): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 398 | 0.0025 | 248 | c.-45 others(269): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
| NUP93_chr16_56725129_56855286 | 56808456 | T | TATATAGT others(241): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0006 | 1 | 378 | 0.0027 | 248 | c.489 others(265): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| OBI1_chr13_78609289_78664155 | 78659305 | A | AGAAAGAA others(241): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 296 | 0.0034 | 248 | c.-18 others(257): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 151 | chr13 | TogoVar | ||||||
| OLFM1_chr9_135082668_135126180 | 135124531 | G | GGAAGGAA others(241): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0196a0001c0001t0004g0288 | 2 | 360 | 0.0056 | 248 | c.*43 others(259): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3352 | chr9 | TogoVar | ||||||
| OPTN_chr10_13095163_13143308 | 13115253 | T | TTATATCT others(241): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 418 | 0.0024 | 248 | c.553 others(263): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(241): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18984.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241a0001c0001t0003g0286a0001c0001t0003g0289 | 3 | 302 | 0.0099 | 248 | c.155 others(265): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PAM16_chr16_4335251_4356321 | 4344737 | A | AGGGGATT others(241): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0234 | 1 | 367 | 0.0027 | 248 | c.4-1 others(261): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
| PAM16_chr16_4335251_4356321 | 4344737 | A | AGGGGGTT others(241): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 367 | 0.0027 | 248 | c.4-1 others(261): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842812 | C | CTATCGAT others(241): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0005 | 1 | 436 | 0.0023 | 248 | c.-26 others(259): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2158 | chr20 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(241): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0036 | 1 | 436 | 0.0023 | 248 | c.-26 others(259): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(241): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 436 | 0.0023 | 248 | c.-26 others(259): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(241): Show |
upstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 436 | 0.0023 | 248 | c.-26 others(259): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | ||||||
| PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(241): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0043 | 1 | 336 | 0.0030 | 248 | c.-37 others(259): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
| PDE4DIP_chr1_148839428_149038016 | 149023587 | C | CATATATG others(241): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0018 | 1 | 24 | 0.0417 | 248 | c.628 others(265): Show |
PDE4DIP | ENSG00000178104.22 | transcript | ENST00000695795.1 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PDE4DIP_chr1_148839428_149038016 | 149023587 | C | CATATATG others(241): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0014 | 1 | 24 | 0.0417 | 248 | c.628 others(265): Show |
PDE4DIP | ENSG00000178104.22 | transcript | ENST00000695795.1 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PDIA5_chr3_123062025_123167104 | 123151795 | G | GCCTGCCT others(241): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0072 | 1 | 332 | 0.0030 | 248 | c.127 others(267): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PDXK_chr21_43714129_43767299 | 43741315 | G | GGGGGGCT others(241): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 358 | 0.0028 | 248 | c.143 others(263): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PERM1_chr1_970198_987093 | 977476 | C | CCAACCCC others(241): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 408 | 0.0025 | 248 | c.215 others(265): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PIWIL1_chr12_130332887_130377637 | 130338548 | G | GGGGTCGA others(241): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0241 | 1 | 425 | 0.0024 | 248 | c.-13 others(263): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PJA2_chr5_109329722_109414974 | 109340619 | C | CCTCTCCC others(241): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0050 | 1 | 346 | 0.0029 | 248 | c.200 others(267): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
| PKD2L1_chr10_100283149_100335228 | 100314979 | G | GGGAAGGG others(241): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 306 | 0.0033 | 248 | c.349 others(267): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401378 | C | CCCCGGCC others(241): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01358.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0002t0001g0132a0001c0002t0001g0134a0001c0003t0001g0101others(4): Show | 7 | 216 | 0.0324 | 248 | c.173 others(265): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401378 | C | CCCCGGCC others(241): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 216 | 0.0046 | 248 | c.173 others(265): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PLCL2_chr3_16879955_17095604 | 17063252 | C | CCCTCCCT others(241): Show |
intron_variant | MODIFIER | HG03834.hp2 HG04199.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058a0001c0002t0001g0158 | 2 | 250 | 0.0080 | 248 | c.309 others(267): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PLCL2_chr3_16879955_17095604 | 17063252 | C | CCCTCCCT others(241): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03710.hp2 NA19011.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0054a0001c0002t0001g0112a0001c0003t0001g0184 | 3 | 250 | 0.0120 | 248 | c.309 others(267): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PLCL2_chr3_16879955_17095604 | 17063252 | C | CCCTCCCT others(241): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02886.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091a0001c0002t0001g0092 | 2 | 250 | 0.0080 | 248 | c.309 others(267): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PLCXD1_chrX_276381_308356 | 280291 | A | AGGAGGGG others(241): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0002 | a0001c0002t0105 | a0001c0002t0105g0128 | 1 | 176 | 0.0057 | 248 | c.-14 others(259): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 1089 | chrX | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 977128 | C | CCAACCCG others(241): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0018 | a0018c0047 | a0018c0047t0001 | a0018c0047t0001g0001 | 1 | 422 | 0.0024 | 248 | c.*25 others(259): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1264 | chr1 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 977476 | C | CCAACCCC others(241): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 248 | c.*29 others(259): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1612 | chr1 | TogoVar | ||||||
| PRRC2B_chr9_131389086_131505193 | 131420465 | C | CTTTCTCT others(241): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03239.hp1 |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0140a0004c0004t0005g0150 | 2 | 216 | 0.0093 | 248 | c.-51 others(265): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PRRC2B_chr9_131389086_131505193 | 131420465 | C | CTTTCTCT others(241): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0004 | a0004c0004 | a0004c0004t0005a0004c0004t0006 | a0004c0004t0005g0147a0004c0004t0006g0145 | 2 | 216 | 0.0093 | 248 | c.-51 others(265): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PTTG1IP_chr21_44844598_44878690 | 44863291 | G | GCCACGGC others(241): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00735.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0029others(18): Show | 30 | 444 | 0.0676 | 248 | c.169 others(265): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 2/5 | chr21 | TogoVar | ||||||
| PTTG1IP_chr21_44844598_44878690 | 44863291 | G | GCCACGGC others(241): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 444 | 0.0023 | 248 | c.169 others(265): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 2/5 | chr21 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 468203 | A | AGTCAGGG others(241): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0025 | 1 | 295 | 0.0034 | 248 | c.809 others(265): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 481892 | C | CGGTGCCA others(241): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0012others(1): Show | a0001c0001t0010g0032a0001c0001t0010g0046a0001c0001t0011g0110others(4): Show | 7 | 295 | 0.0237 | 248 | c.904 others(263): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RALGAPA2_chr20_20384530_20717644 | 20458434 | T | TTATATAT others(241): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02630.hp1 others(2): Show |
a0001a0006 | a0001c0003a0006c0012 | a0001c0003t0002a0001c0003t0017a0006c0012t0001 | a0001c0003t0002g0076a0001c0003t0002g0077a0001c0003t0002g0078others(2): Show | 5 | 122 | 0.0410 | 248 | c.549 others(269): Show |
RALGAPA2 | ENSG00000188559.16 | transcript | ENST00000202677.12 | protein_coding | 37/39 | chr20 | TogoVar | ||||||
| RASA1_chr5_87262883_87396916 | 87301463 | C | CTTAGATG others(241): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 282 | 0.0036 | 248 | c.540 others(267): Show |
RASA1 | ENSG00000145715.15 | transcript | ENST00000274376.11 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114099832 | C | CCCCCCCC others(241): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 67 | 0.0149 | 248 | c.56- others(265): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(241): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0304 | 1 | 304 | 0.0033 | 248 | c.66+ others(263): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RETNLB_chr3_108750638_108762410 | 108759494 | T | TGTATGTA others(241): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 452 | 0.0022 | 248 | c.-23 others(259): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2085 | chr3 | TogoVar |