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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB20_chr13_110518066_110566722 | 110520319 | A | AGAACCCG others(13): Show |
downstream_gene_variant | MODIFIER | NA19011.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0190 a0001c0002t0002g0269 |
2 | 426 | 0.0047 | 20 | c.*33 others(31): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 2746 | chr13 | TogoVar | |||||||
RAB21_chr12_71749863_71805286 | 71774861 | G | GGCTTCAA others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG02886.hp2 |
a0001 | a0001c0006 | a0001c0006t0194a0001c0006t0195a0001c0006t0196 | a0001c0006t0194g0191 a0001c0006t0195g0192 a0001c0006t0196g0193 |
3 | 380 | 0.0079 | 20 | c.391 others(35): Show |
RAB21 | ENSG00000080371.6 | transcript | ENST00000261263.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RAB22A_chr20_58304715_58372507 | 58309453 | G | GCAGGGGC others(13): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(90): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0267 others(88): Show |
93 | 394 | 0.2360 | 20 | c.-52 others(29): Show |
RAB22A | ENSG00000124209.4 | transcript | ENST00000244040.4 | protein_coding | 261 | chr20 | TogoVar | |||||||
RAB22A_chr20_58304715_58372507 | 58309621 | G | GGGGCCCT others(13): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0029 | 2 | 394 | 0.0051 | 20 | c.-35 others(29): Show |
RAB22A | ENSG00000124209.4 | transcript | ENST00000244040.4 | protein_coding | 93 | chr20 | TogoVar | |||||||
RAB22A_chr20_58304715_58372507 | 58333276 | C | CATAAATA others(13): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01074.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0022others(5): Show | a0001c0001t0001g0278 a0001c0001t0001g0290 a0001c0001t0001g0315 others(8): Show |
13 | 394 | 0.0330 | 20 | c.117 others(39): Show |
RAB22A | ENSG00000124209.4 | transcript | ENST00000244040.4 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB24_chr5_177296198_177308719 | 177301954 | A | ACGTAATC others(13): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0031 | 1 | 404 | 0.0025 | 20 | c.498 others(27): Show |
p.Val others(5): Show |
RAB24 | ENSG00000169228.14 | transcript | ENST00000303251.11 | protein_coding | 7/8 | 948/1588 | 517/612 | 173/203 | chr5 | TogoVar | |||
RAB27A_chr15_55197966_55294813 | 55274794 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG03654.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0287 a0001c0001t0004g0268 |
2 | 320 | 0.0063 | 20 | c.-14 others(39): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 1/6 | chr15 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55274794 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 320 | 0.0031 | 20 | c.-14 others(39): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 1/6 | chr15 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55274815 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0277 | 1 | 320 | 0.0031 | 20 | c.-14 others(39): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 1/6 | chr15 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55274815 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0275 a0001c0001t0003g0278 |
2 | 320 | 0.0063 | 20 | c.-14 others(39): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 1/6 | chr15 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55280503 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012 | a0001c0001t0011g0301 a0001c0001t0012g0300 a0001c0001t0012g0302 others(1): Show |
4 | 320 | 0.0125 | 20 | c.-14 others(39): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 1/6 | chr15 | TogoVar | |||||||
RAB27B_chr18_54823477_54900516 | 54850333 | G | GACATATA others(13): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0130 a0001c0001t0010g0027 |
2 | 334 | 0.0060 | 20 | c.-20 others(39): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB27B_chr18_54823477_54900516 | 54850333 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03239.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0127 a0001c0001t0001g0177 a0001c0001t0001g0212 others(2): Show |
5 | 334 | 0.0150 | 20 | c.-20 others(39): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB27B_chr18_54823477_54900516 | 54850359 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 2 | 334 | 0.0060 | 20 | c.-20 others(39): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60585281 | C | CGTTTTGT others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0332 | 1 | 358 | 0.0028 | 20 | c.362 others(35): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 5/7 | chr8 | TogoVar | |||||||
RAB2A_chr8_60511987_60628644 | 60605832 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02717.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0345 a0001c0001t0005g0284 a0001c0001t0005g0308 |
3 | 358 | 0.0084 | 20 | c.475 others(39): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60605852 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02129.hp2 HG03688.hp2 NA18948.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 others(5): Show |
8 | 358 | 0.0224 | 20 | c.475 others(39): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2B_chr14_21454020_21481959 | 21454162 | A | AAAAAGAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01358.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011 | a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0028 others(9): Show |
18 | 412 | 0.0437 | 20 | c.*70 others(31): Show |
RAB2B | ENSG00000129472.15 | transcript | ENST00000397762.6 | protein_coding | 4857 | chr14 | TogoVar | |||||||
RAB30_chr11_82968133_83076897 | 82980823 | T | TGGGAGGG others(13): Show |
3_prime_UTR_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0082 | 1 | 328 | 0.0031 | 20 | c.*13 others(31): Show |
RAB30 | ENSG00000137502.10 | transcript | ENST00000527633.6 | protein_coding | 5/5 | 1341 | chr11 | TogoVar | ||||||
RAB30_chr11_82968133_83076897 | 83014634 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18963.hp2 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0132 a0001c0001t0001g0161 |
3 | 328 | 0.0092 | 20 | c.-8- others(37): Show |
RAB30 | ENSG00000137502.10 | transcript | ENST00000527633.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
RAB31_chr18_9703301_9867551 | 9734102 | A | AGGAGGGA others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 322 | 0.0031 | 20 | c.39+ others(37): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9863435 | A | AACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 322 | 0.0031 | 20 | c.*41 others(31): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 885 | chr18 | TogoVar | |||||||
RAB33A_chrX_130166962_130189870 | 130187430 | T | TTTCCTTC others(13): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 316 | 0.0032 | 20 | c.*26 others(31): Show |
RAB33A | ENSG00000134594.5 | transcript | ENST00000257017.5 | protein_coding | 2561 | chrX | TogoVar | |||||||
RAB33B_chr4_139449121_139481609 | 139451363 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0116 | 1 | 402 | 0.0025 | 20 | c.-28 others(31): Show |
RAB33B | ENSG00000172007.7 | transcript | ENST00000305626.6 | protein_coding | 2757 | chr4 | TogoVar | |||||||
RAB35_chr12_120090099_120121753 | 120110290 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02886.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0010 | a0001c0001t0004g0294 a0001c0001t0008g0281 a0001c0001t0010g0290 |
3 | 414 | 0.0073 | 20 | c.53- others(35): Show |
RAB35 | ENSG00000111737.12 | transcript | ENST00000229340.10 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
RAB37_chr17_74732256_74752335 | 74734984 | A | AGAGAAAG others(13): Show |
upstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 432 | 0.0023 | 20 | c.-22 others(31): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 2271 | chr17 | TogoVar | |||||||
RAB37_chr17_74732256_74752335 | 74735006 | A | AAAGGAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 HG02135.hp1 NA18940.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0106 others(3): Show |
8 | 432 | 0.0185 | 20 | c.-22 others(31): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 2249 | chr17 | TogoVar | |||||||
RAB37_chr17_74732256_74752335 | 74735018 | G | GAAGAAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG02896.hp2 HG03195.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0003g0001 others(6): Show |
11 | 432 | 0.0255 | 20 | c.-22 others(31): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 2237 | chr17 | TogoVar | |||||||
RAB37_chr17_74732256_74752335 | 74735018 | G | GAAGGAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 |
2 | 432 | 0.0046 | 20 | c.-22 others(31): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 2237 | chr17 | TogoVar | |||||||
RAB37_chr17_74732256_74752335 | 74735018 | G | GAAGGAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 432 | 0.0023 | 20 | c.-22 others(31): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 2237 | chr17 | TogoVar | |||||||
RAB37_chr17_74732256_74752335 | 74735018 | G | GAAGGAAG others(13): Show |
upstream_gene_variant | MODIFIER | NA18982.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0002 a0001c0001t0005g0104 |
2 | 432 | 0.0046 | 20 | c.-22 others(31): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 2237 | chr17 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51967521 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0061 | 1 | 62 | 0.0161 | 20 | c.228 others(37): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58590532 | C | CTTATTTA others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 220 | 0.0046 | 20 | c.24+ others(35): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58610194 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG01071.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(6): Show | a0001c0001t0002g0206 a0001c0001t0005g0005 a0001c0001t0012g0014 others(7): Show |
10 | 220 | 0.0455 | 20 | c.25- others(35): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58612518 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18951.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0026a0001c0001t0068 | a0001c0001t0003g0207 a0001c0001t0026g0158 a0001c0001t0068g0139 |
3 | 220 | 0.0136 | 20 | c.25- others(35): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58677976 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0033 | a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0033g0008 |
3 | 220 | 0.0136 | 20 | c.253 others(39): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58693322 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0210 | 1 | 220 | 0.0046 | 20 | c.253 others(39): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58693334 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 220 | 0.0046 | 20 | c.253 others(39): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58833324 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0068 | 1 | 220 | 0.0046 | 20 | c.496 others(37): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58845594 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0122 | 1 | 220 | 0.0046 | 20 | c.497 others(37): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58845612 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 220 | 0.0046 | 20 | c.497 others(37): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58845612 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 220 | 0.0046 | 20 | c.497 others(37): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135048373 | A | ACTCACTC others(13): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0270 a0001c0001t0004g0271 |
2 | 280 | 0.0071 | 20 | c.-39 others(31): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3918 | chr2 | TogoVar | |||||||
RAB3GAP1_chr2_135047292_135175710 | 135082141 | C | CAATGAAT others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0247 a0001c0001t0003g0245 |
2 | 280 | 0.0071 | 20 | c.151 others(37): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135082161 | G | GAATGAAT others(13): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01978.hp2 HG01981.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0002a0001c0001t0007a0001c0004t0013others(1): Show | a0001c0001t0002g0139 a0001c0001t0002g0155 a0001c0001t0002g0161 others(11): Show |
14 | 280 | 0.0500 | 20 | c.151 others(37): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135103035 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0017 | a0001c0001t0003g0227 a0001c0001t0003g0235 a0001c0001t0003g0236 others(5): Show |
8 | 280 | 0.0286 | 20 | c.362 others(37): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135117409 | T | TTCTTCTT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0239 | 1 | 280 | 0.0036 | 20 | c.648 others(37): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP2_chr1_220143293_220277453 | 220163744 | C | CATACATA others(13): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 378 | 0.0027 | 20 | c.315 others(37): Show |
RAB3GAP2 | ENSG00000118873.17 | transcript | ENST00000358951.7 | protein_coding | 27/34 | chr1 | TogoVar | |||||||
RAB3GAP2_chr1_220143293_220277453 | 220214946 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01952.hp2 HG01981.hp1 others(16): Show |
a0001a0010a0013 | a0001c0001a0001c0004a0010c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0064 a0001c0001t0001g0228 a0001c0001t0002g0289 others(16): Show |
19 | 378 | 0.0503 | 20 | c.181 others(35): Show |
RAB3GAP2 | ENSG00000118873.17 | transcript | ENST00000358951.7 | protein_coding | 2/34 | chr1 | TogoVar | |||||||
RAB3IP_chr12_69733860_69828199 | 69817653 | T | TACACACA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01175.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0017a0001c0001t0022a0001c0001t0119others(2): Show | a0001c0001t0017g0025 a0001c0001t0017g0267 a0001c0001t0017g0283 others(6): Show |
9 | 402 | 0.0224 | 20 | c.*22 others(31): Show |
RAB3IP | ENSG00000127328.22 | transcript | ENST00000247833.12 | protein_coding | 11/11 | 2242 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |