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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PYGM_chr11_64741398_64764974 | 64759946 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0126 | 1 | 350 | 0.0029 | 0 | c.-48 others(3): Show |
PYGM | ENSG00000068976.14 | transcript | ENST00000164139.4 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
PYGO2_chr1_154952026_154966782 | 154961698 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00597.hp1 | a0002 | a0002c0003 | a0002c0003t0014 | a0002c0003t0014g0041 | 1 | 302 | 0.0033 | 0 | c.-12 others(4): Show |
PYGO2 | ENSG00000163348.4 | transcript | ENST00000368457.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
PYROXD1_chr12_21432655_21476250 | 21437687 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0002a0001c0001t0002g0009a0001c0001t0002g0012others(128): Show | 237 | 416 | 0.5697 | 0 | c.-44 others(3): Show |
PYROXD1 | ENSG00000121350.16 | transcript | ENST00000240651.14 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
QDPR_chr4_17481395_17517090 | 17512078 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0229 | 1 | 406 | 0.0025 | 0 | c.-24 others(3): Show |
QDPR | ENSG00000151552.13 | transcript | ENST00000281243.10 | protein_coding | 1/7 | chr4 | TogoVar | ||||||
QNG1_chr9_83933311_83961742 | 83956589 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0144 | 1 | 394 | 0.0025 | 0 | c.-89 others(3): Show |
QNG1 | ENSG00000165118.15 | transcript | ENST00000376344.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
QNG1_chr9_83933311_83961742 | 83956653 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0048 | 1 | 394 | 0.0025 | 0 | c.-15 others(4): Show |
QNG1 | ENSG00000165118.15 | transcript | ENST00000376344.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121380841 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00639.hp2 HG00735.hp2 HG00738.hp1 others(25): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0009others(1): Show | a0001c0001t0007a0001c0001t0011a0001c0001t0014others(4): Show | a0001c0001t0007g0159a0001c0001t0007g0166a0001c0001t0007g0169others(24): Show | 28 | 384 | 0.0729 | 0 | c.-19 others(4): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
QRFP_chr9_130887707_130901812 | 130895749 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0094 | 1 | 428 | 0.0023 | 0 | c.-53 others(3): Show |
QRFP | ENSG00000188710.3 | transcript | ENST00000623824.2 | protein_coding | 2/3 | chr9 | TogoVar | ||||||
QRFP_chr9_130887707_130901812 | 130895830 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03492.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0028 | 2 | 428 | 0.0047 | 0 | c.-13 others(4): Show |
QRFP | ENSG00000188710.3 | transcript | ENST00000623824.2 | protein_coding | 2/3 | chr9 | TogoVar | ||||||
QRFP_chr9_130887707_130901812 | 130896682 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01361.hp2 HG02622.hp1 HG02630.hp2 others(5): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0008a0002c0004t0019 | a0001c0002t0008g0008a0002c0004t0019g0049 | 8 | 428 | 0.0187 | 0 | c.-39 others(4): Show |
QRFP | ENSG00000188710.3 | transcript | ENST00000623824.2 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
QRFP_chr9_130887707_130901812 | 130896706 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00735.hp2 HG01361.hp2 HG02056.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0001t0012a0001c0002t0008others(3): Show | a0001c0001t0004g0006a0001c0001t0004g0025a0001c0001t0004g0026others(9): Show | 32 | 428 | 0.0748 | 0 | c.-41 others(4): Show |
QRFP | ENSG00000188710.3 | transcript | ENST00000623824.2 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
QRICH2_chr17_76269049_76313276 | 76308269 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01891.hp2 HG02055.hp1 HG02970.hp1 others(2): Show |
a0007a0014 | a0007c0008a0014c0019 | a0007c0008t0005a0014c0019t0005 | a0007c0008t0005g0349a0007c0008t0005g0350a0007c0008t0005g0351others(2): Show | 5 | 364 | 0.0137 | 0 | c.-27 others(4): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
R3HCC1L_chr10_98129657_98249897 | 98163349 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0022 | 1 | 388 | 0.0026 | 0 | c.-63 others(3): Show |
R3HCC1L | ENSG00000166024.14 | transcript | ENST00000298999.8 | protein_coding | 4/10 | chr10 | TogoVar | ||||||
R3HCC1_chr8_23283108_23301279 | 23288116 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 | 1 | 472 | 0.0021 | 0 | c.-60 others(3): Show |
R3HCC1 | ENSG00000104679.12 | transcript | ENST00000265806.12 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57430727 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01358.hp2 HG02602.hp1 HG04204.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0332a0001c0002t0005g0333a0001c0002t0005g0334 | 3 | 336 | 0.0089 | 0 | c.-11 others(4): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
RAB11FIP2_chr10_117999916_118051941 | 118046216 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0227 | 1 | 400 | 0.0025 | 0 | c.-53 others(3): Show |
RAB11FIP2 | ENSG00000107560.12 | transcript | ENST00000355624.8 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
RAB11FIP2_chr10_117999916_118051941 | 118046580 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0229 | 1 | 400 | 0.0025 | 0 | c.-41 others(4): Show |
RAB11FIP2 | ENSG00000107560.12 | transcript | ENST00000355624.8 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
RAB11FIP2_chr10_117999916_118051941 | 118046896 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0242 | 1 | 400 | 0.0025 | 0 | c.-73 others(4): Show |
RAB11FIP2 | ENSG00000107560.12 | transcript | ENST00000355624.8 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 425952 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp2 HG03041.hp1 |
a0001 | a0001c0006a0001c0008 | a0001c0006t0058a0001c0008t0057 | a0001c0006t0058g0111a0001c0008t0057g0113 | 2 | 295 | 0.0068 | 0 | c.-55 others(3): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
RAB17_chr2_237569326_237595734 | 237590675 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(233): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0002c0003others(17): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0014others(30): Show | a0001c0001t0003g0008a0001c0001t0003g0013a0001c0001t0003g0024others(162): Show | 236 | 424 | 0.5566 | 0 | c.-21 others(4): Show |
RAB17 | ENSG00000124839.13 | transcript | ENST00000264601.8 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
RAB18_chr10_27499304_27547239 | 27504350 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp1 HG02572.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0048a0001c0001t0049others(1): Show | a0001c0001t0047g0234a0001c0001t0048g0230a0001c0001t0049g0235others(1): Show | 4 | 410 | 0.0098 | 0 | c.-20 others(3): Show |
RAB18 | ENSG00000099246.18 | transcript | ENST00000356940.11 | protein_coding | 1/7 | chr10 | TogoVar | ||||||
RAB22A_chr20_58304715_58372507 | 58309767 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0121 | a0001c0001t0121g0117 | 1 | 394 | 0.0025 | 0 | c.-21 others(4): Show |
RAB22A | ENSG00000124209.4 | transcript | ENST00000244040.4 | protein_coding | 1/7 | chr20 | TogoVar | ||||||
RAB23_chr6_57181992_57227307 | 57222032 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0035 | 1 | 246 | 0.0041 | 0 | c.-37 others(4): Show |
RAB23 | ENSG00000112210.12 | transcript | ENST00000468148.6 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
RAB33B_chr4_139449121_139481609 | 139454142 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(5): Show | a0001c0001t0002g0007a0001c0001t0002g0012a0001c0001t0002g0041others(45): Show | 67 | 402 | 0.1667 | 0 | c.-54 others(3): Show |
RAB33B | ENSG00000172007.7 | transcript | ENST00000305626.6 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
RAB34_chr17_28709284_28722868 | 28717346 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0020 | 1 | 346 | 0.0029 | 0 | c.-80 others(3): Show |
RAB34 | ENSG00000109113.20 | transcript | ENST00000395245.9 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
RAB34_chr17_28709284_28722868 | 28717464 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00733.hp1 HG01074.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 11 | 346 | 0.0318 | 0 | c.-19 others(4): Show |
RAB34 | ENSG00000109113.20 | transcript | ENST00000395245.9 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
RAB38_chr11_88108251_88180443 | 88175395 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0003g0009a0001c0001t0003g0018a0001c0001t0003g0042others(79): Show | 97 | 420 | 0.2310 | 0 | c.-11 others(3): Show |
RAB38 | ENSG00000123892.12 | transcript | ENST00000243662.11 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
RAB3A_chr19_18191784_18209042 | 18204024 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19063.hp2 | a0005 | a0005c0007 | a0005c0007t0039 | a0005c0007t0039g0207 | 1 | 370 | 0.0027 | 0 | c.-12 others(4): Show |
RAB3A | ENSG00000105649.10 | transcript | ENST00000222256.9 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
RAB3D_chr19_11317068_11344657 | 11339592 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0222 | 1 | 414 | 0.0024 | 0 | c.-18 others(4): Show |
RAB3D | ENSG00000105514.8 | transcript | ENST00000222120.8 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
RAB3IL1_chr11_61892301_61922566 | 61917497 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(51): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0003t0003others(8): Show | a0001c0001t0003g0017a0001c0001t0003g0150a0001c0001t0003g0152others(22): Show | 54 | 392 | 0.1378 | 0 | c.-13 others(4): Show |
RAB3IL1 | ENSG00000167994.13 | transcript | ENST00000394836.7 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
RAB40A_chrX_103494130_103524489 | 103519380 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01891.hp2 NA19043.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0090a0003c0003t0003g0091 | 2 | 266 | 0.0075 | 0 | c.-23 others(4): Show |
RAB40A | ENSG00000172476.4 | transcript | ENST00000304236.2 | protein_coding | 1/3 | chrX | TogoVar | ||||||
RAB44_chr6_36692826_36738184 | 36697889 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02258.hp2 HG02280.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0023 | a0001c0001t0007g0010a0001c0001t0007g0234a0001c0001t0023g0162 | 5 | 428 | 0.0117 | 0 | c.-39 others(3): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1/14 | chr6 | TogoVar | ||||||
RAB4A_chr1_229266111_229310894 | 229271160 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0316 | 1 | 400 | 0.0025 | 0 | c.-18 others(4): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
RAB6B_chr3_133819235_133900882 | 133895531 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02922.hp2 HG02976.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0226a0001c0001t0034g0227a0001c0001t0034g0228 | 3 | 386 | 0.0078 | 0 | c.-65 others(3): Show |
RAB6B | ENSG00000154917.11 | transcript | ENST00000285208.9 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
RAB6C_chr2_129974666_129987738 | 129979888 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG06807.hp1 | a0002 | a0002c0009 | a0002c0009t0021 | a0002c0009t0021g0000 | 1 | 402 | 0.0025 | 0 | c.-22 others(4): Show |
RAB6C | ENSG00000222014.6 | transcript | ENST00000410061.4 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
RAB6D_chr2_131355492_131369168 | 131363814 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18952.hp1 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0000 | 2 | 420 | 0.0048 | 0 | c.-94 others(3): Show |
RAB6D | ENSG00000233087.8 | transcript | ENST00000623617.3 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
RAB6D_chr2_131355492_131369168 | 131364037 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp1 HG01167.hp1 HG01192.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0020 | a0001c0001t0015g0000a0001c0001t0020g0000 | 5 | 420 | 0.0119 | 0 | c.-31 others(4): Show |
RAB6D | ENSG00000233087.8 | transcript | ENST00000623617.3 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
RAB6D_chr2_131355492_131369168 | 131364161 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0000 | 1 | 420 | 0.0024 | 0 | c.-44 others(4): Show |
RAB6D | ENSG00000233087.8 | transcript | ENST00000623617.3 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
RAB7A_chr3_128721183_128819798 | 128726253 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03688.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0072a0001c0001t0011g0089 | 2 | 314 | 0.0064 | 0 | c.-11 others(4): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
RAB7B_chr1_205971740_206008395 | 206003274 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0299 | 1 | 330 | 0.0030 | 0 | c.-38 others(3): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
RAB9A_chrX_13684128_13715504 | 13689151 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0066 | 1 | 334 | 0.0030 | 0 | c.-25 others(4): Show |
RAB9A | ENSG00000123595.8 | transcript | ENST00000464506.2 | protein_coding | 1/3 | chrX | TogoVar | ||||||
RAB9A_chrX_13684128_13715504 | 13703877 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01106.hp1 HG01243.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0055a0001c0001t0002g0056a0001c0001t0002g0057others(3): Show | 6 | 334 | 0.0180 | 0 | c.-52 others(3): Show |
RAB9A | ENSG00000123595.8 | transcript | ENST00000464506.2 | protein_coding | 2/3 | chrX | TogoVar | ||||||
RAB9B_chrX_103817327_103837257 | 103832194 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0056 | 1 | 331 | 0.0030 | 0 | c.-25 others(4): Show |
RAB9B | ENSG00000123570.4 | transcript | ENST00000243298.3 | protein_coding | 1/3 | chrX | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5282443 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0107 | 1 | 352 | 0.0028 | 0 | c.-44 others(3): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/18 | chr17 | TogoVar | ||||||
RABEPK_chr9_125195542_125239161 | 125200647 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02451.hp2 HG02622.hp2 HG02886.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0309a0001c0002t0005g0310a0001c0002t0005g0311others(6): Show | 9 | 388 | 0.0232 | 0 | c.-26 others(4): Show |
RABEPK | ENSG00000136933.17 | transcript | ENST00000373538.8 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
RABIF_chr1_202873282_202894149 | 202889124 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0143 | 1 | 426 | 0.0024 | 0 | c.-26 others(3): Show |
RABIF | ENSG00000183155.5 | transcript | ENST00000367262.4 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
RABL2B_chr22_50762506_50788636 | 50783547 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00423.hp2 HG01515.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011a0001c0001t0034others(1): Show | a0001c0001t0009g0023a0001c0001t0009g0208a0001c0001t0009g0209others(6): Show | 14 | 476 | 0.0294 | 0 | c.-10 others(4): Show |
RABL2B | ENSG00000079974.19 | transcript | ENST00000691320.1 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
RABL2B_chr22_50762506_50788636 | 50783594 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0243 | 1 | 476 | 0.0021 | 0 | c.-14 others(4): Show |
RABL2B | ENSG00000079974.19 | transcript | ENST00000691320.1 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136807983 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA21309.hp2 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0183 | 1 | 330 | 0.0030 | 0 | c.-21 others(4): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 1/15 | chr9 | TogoVar | ||||||
RACK1_chr5_181231897_181248906 | 181243858 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00408.hp1 HG01106.hp1 HG01257.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006a0001c0001t0003g0027a0001c0001t0003g0113others(2): Show | 17 | 430 | 0.0395 | 0 | c.-58 others(3): Show |
RACK1 | ENSG00000204628.12 | transcript | ENST00000512805.6 | protein_coding | 1/8 | chr5 | TogoVar |