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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
QARS1_chr3_49090932_49109757 | 49096798 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01169.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0072 | 17 | 284 | 0.0599 | 9 | c.227 others(26): Show |
QARS1 | ENSG00000172053.18 | transcript | ENST00000306125.12 | protein_coding | 23/23 | chr3 | TogoVar | ||||||
QKI_chr6_163409718_163583592 | 163510217 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01074.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0003g0050a0001c0001t0004g0236a0001c0001t0004g0238others(22): Show | 25 | 302 | 0.0828 | 9 | c.403 others(28): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QKI_chr6_163409718_163583592 | 163524408 | G | GTCATGTC others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0036a0001c0001t0037others(5): Show | a0001c0001t0027g0002a0001c0001t0027g0250a0001c0001t0027g0252others(9): Show | 12 | 302 | 0.0397 | 9 | c.403 others(28): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QRFPR_chr4_121323642_121386018 | 121331622 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18747.hp2 NA18949.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282a0001c0001t0002g0284a0001c0001t0002g0286others(5): Show | 8 | 384 | 0.0208 | 9 | c.798 others(26): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 4/5 | chr4 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121365665 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01175.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0009 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0003g0223a0001c0001t0003g0224a0001c0001t0003g0227others(25): Show | 29 | 384 | 0.0755 | 9 | c.340 others(28): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121365674 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02965.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0218a0001c0001t0002g0220a0001c0001t0002g0221others(1): Show | 4 | 384 | 0.0104 | 9 | c.340 others(28): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
QRICH1_chr3_49024707_49099071 | 49034079 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02145.hp1 HG02809.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0006a0001c0001t0001g0061a0001c0001t0001g0072others(7): Show | 10 | 226 | 0.0443 | 9 | c.178 others(26): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 6/9 | chr3 | TogoVar | ||||||
QRICH1_chr3_49024707_49099071 | 49096798 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01192.hp1 HG01952.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0088a0001c0001t0001g0114others(11): Show | 14 | 226 | 0.0620 | 9 | c.-29 others(20): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 2728 | chr3 | TogoVar | ||||||
QRICH2_chr17_76269049_76313276 | 76276131 | C | CACCCACC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(235): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0005a0002c0002others(47): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(47): Show | a0001c0001t0001g0110a0001c0001t0001g0115a0001c0001t0001g0187others(228): Show | 238 | 364 | 0.6539 | 9 | c.535 others(26): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 17/18 | chr17 | TogoVar | ||||||
QRICH2_chr17_76269049_76313276 | 76285125 | C | CTGTTGTT others(2): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18941.hp2 NA18960.hp2 others(5): Show |
a0004a0006a0026 | a0004c0006a0006c0009a0026c0035 | a0004c0006t0002a0006c0009t0002a0026c0035t0001 | a0004c0006t0002g0038a0004c0006t0002g0041a0004c0006t0002g0050others(5): Show | 8 | 364 | 0.0220 | 9 | c.401 others(28): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 7/18 | chr17 | TogoVar | ||||||
QRICH2_chr17_76269049_76313276 | 76298034 | T | TAACTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02559.hp1 HG02809.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0167a0003c0003t0001g0168a0003c0003t0001g0176others(7): Show | 10 | 364 | 0.0275 | 9 | c.706 others(26): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 3/18 | chr17 | TogoVar | ||||||
QRICH2_chr17_76269049_76313276 | 76298181 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02809.hp1 HG02922.hp1 others(3): Show |
a0005a0015 | a0005c0007a0015c0018 | a0005c0007t0003a0015c0018t0003 | a0005c0007t0003g0011a0005c0007t0003g0013a0005c0007t0003g0015others(3): Show | 6 | 364 | 0.0165 | 9 | c.706 others(26): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 3/18 | chr17 | TogoVar | ||||||
QRICH2_chr17_76269049_76313276 | 76301703 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(85): Show |
a0002a0007a0008others(12): Show | a0002c0002a0002c0004a0002c0060others(14): Show | a0002c0002t0001a0002c0004t0001a0002c0060t0001others(14): Show | a0002c0002t0001g0001a0002c0002t0001g0236a0002c0002t0001g0237others(82): Show | 88 | 364 | 0.2418 | 9 | c.705 others(26): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 3/18 | chr17 | TogoVar | ||||||
QRICH2_chr17_76269049_76313276 | 76308126 | C | CCGCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(50): Show |
a0004a0005a0006others(8): Show | a0004c0006a0004c0013a0005c0007others(12): Show | a0004c0006t0002a0004c0013t0002a0005c0007t0003others(12): Show | a0004c0006t0002g0027a0004c0006t0002g0028a0004c0006t0002g0029others(49): Show | 53 | 364 | 0.1456 | 9 | c.-12 others(18): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 1/19 | 129 | chr17 | TogoVar | |||||
QRSL1_chr6_106624578_106673417 | 106639116 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02132.hp2 NA18946.hp2 others(12): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0005a0006c0010t0005 | a0001c0001t0005g0003a0001c0001t0005g0054a0001c0001t0005g0328others(8): Show | 15 | 422 | 0.0356 | 9 | c.25- others(24): Show |
QRSL1 | ENSG00000130348.11 | transcript | ENST00000369046.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QSER1_chr11_32887811_32985270 | 32892843 | G | GGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01496.hp1 HG02451.hp1 HG02572.hp2 others(6): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0007a0001c0002t0008a0001c0002t0018others(1): Show | a0001c0002t0007g0010a0001c0002t0007g0191a0001c0002t0007g0192others(6): Show | 9 | 236 | 0.0381 | 9 | c.-27 others(18): Show |
QSER1 | ENSG00000060749.17 | transcript | ENST00000650167.2 | protein_coding | 1/13 | 263 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
QSOX1_chr1_180149869_180209030 | 180204071 | A | AATGATGA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG02976.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0032a0001c0004t0033 | a0001c0001t0032g0047a0001c0004t0033g0127 | 3 | 388 | 0.0077 | 9 | c.*70 others(20): Show |
QSOX1 | ENSG00000116260.17 | transcript | ENST00000367602.8 | protein_coding | 42 | chr1 | TogoVar | ||||||
R3HCC1L_chr10_98129657_98249897 | 98183958 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01175.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0160a0003c0003t0003g0170a0003c0003t0003g0174others(3): Show | 6 | 388 | 0.0155 | 9 | c.-15 others(28): Show |
R3HCC1L | ENSG00000166024.14 | transcript | ENST00000298999.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
R3HDM1_chr2_135526484_135730269 | 135648907 | G | GTACTATC others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0001a0010c0012t0001 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214others(14): Show | 17 | 232 | 0.0733 | 9 | c.162 others(26): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
R3HDM1_chr2_135526484_135730269 | 135654427 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18947.hp1 NA18959.hp2 others(1): Show |
a0003a0005 | a0003c0003a0005c0006 | a0003c0003t0001a0003c0003t0003a0005c0006t0001 | a0003c0003t0001g0054a0003c0003t0001g0059a0003c0003t0003g0039others(1): Show | 4 | 232 | 0.0172 | 9 | c.202 others(28): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
R3HDM2_chr12_57248764_57436043 | 57320261 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02895.hp1 others(9): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(4): Show | a0001c0001t0001g0317a0001c0001t0004g0157a0001c0002t0002g0023others(9): Show | 12 | 336 | 0.0357 | 9 | c.-35 others(26): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57371083 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01168.hp1 HG02015.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0002 | a0001c0001t0001g0151a0001c0001t0001g0187a0001c0001t0001g0236others(12): Show | 15 | 336 | 0.0446 | 9 | c.-36 others(28): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57385310 | T | TTGTGATA others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0331 | 3 | 336 | 0.0089 | 9 | c.-36 others(28): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57386155 | G | GCTCGCAG others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00639.hp1 others(129): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0214a0001c0002t0001g0003a0001c0002t0001g0008others(129): Show | 132 | 336 | 0.3929 | 9 | c.-36 others(26): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57386159 | G | GCAGCCCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00741.hp2 others(9): Show |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0001a0001c0002t0002a0004c0008t0002 | a0001c0002t0001g0057a0001c0002t0002g0012a0001c0002t0002g0033others(9): Show | 12 | 336 | 0.0357 | 9 | c.-36 others(26): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57404064 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01891.hp2 HG02055.hp2 others(13): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(4): Show | a0001c0001t0001g0285a0001c0001t0001g0286a0001c0001t0001g0303others(13): Show | 16 | 336 | 0.0476 | 9 | c.-10 others(28): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 1/23 | chr12 | TogoVar | ||||||
R3HDM4_chr19_891503_918219 | 915271 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(70): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0022a0001c0001t0001g0028others(63): Show | 73 | 432 | 0.1690 | 9 | c.-21 others(20): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 2053 | chr19 | TogoVar | ||||||
RAB10_chr2_26029084_26142454 | 26099211 | A | AATGTGTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00639.hp1 others(159): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0022others(159): Show | 162 | 212 | 0.7642 | 9 | c.188 others(24): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAB10_chr2_26029084_26142454 | 26124389 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01106.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0100a0001c0001t0001g0185a0001c0001t0001g0194others(20): Show | 23 | 212 | 0.1085 | 9 | c.328 others(26): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAB11FIP1_chr8_37853618_37904497 | 37857558 | G | GTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02615.hp2 others(5): Show |
a0001a0002a0007others(4): Show | a0001c0001a0002c0002a0007c0008others(4): Show | a0001c0001t0005a0002c0002t0005a0007c0008t0007others(4): Show | a0001c0001t0005g0106a0002c0002t0005g0066a0007c0008t0007g0262others(5): Show | 8 | 264 | 0.0303 | 9 | c.*53 others(20): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1059 | chr8 | TogoVar | ||||||
RAB11FIP1_chr8_37853618_37904497 | 37895260 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01517.hp1 HG01978.hp2 HG02080.hp1 others(3): Show |
a0001a0002a0009others(2): Show | a0001c0001a0002c0002a0009c0006others(2): Show | a0001c0001t0001a0002c0002t0001a0009c0006t0002others(2): Show | a0001c0001t0001g0094a0001c0001t0001g0175a0002c0002t0001g0234others(3): Show | 6 | 264 | 0.0227 | 9 | c.371 others(26): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31391538 | G | GCCGCCGC others(2): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG03669.hp2 NA18980.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0046a0001c0002t0004a0001c0003t0006others(1): Show | a0001c0001t0046g0239a0001c0002t0004g0273a0001c0003t0006g0221others(1): Show | 4 | 310 | 0.0129 | 9 | c.-31 others(18): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 136 | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31450321 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18957.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0011a0001c0002t0004 | a0001c0001t0007g0307a0001c0001t0011g0027a0001c0002t0004g0234 | 3 | 310 | 0.0097 | 9 | c.336 others(28): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB12_chr18_8604437_8644383 | 8613829 | A | AAGTAGTA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02572.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0017others(1): Show | a0001c0001t0009g0058a0001c0001t0010g0056a0001c0001t0017g0152others(1): Show | 4 | 404 | 0.0099 | 9 | c.514 others(26): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RAB13_chr1_153976650_153991339 | 153987528 | A | AAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0012others(5): Show | 88 | 408 | 0.2157 | 9 | c.-12 others(20): Show |
RAB13 | ENSG00000143545.10 | transcript | ENST00000368575.5 | protein_coding | 1190 | chr1 | TogoVar | ||||||
RAB1A_chr2_65081854_65135106 | 65103299 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG01081.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0001g0082others(4): Show | 7 | 340 | 0.0206 | 9 | c.96+ others(24): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
RAB21_chr12_71749863_71805286 | 71753353 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01243.hp1 HG01346.hp2 others(33): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0010a0001c0001t0014others(26): Show | a0001c0001t0002g0113a0001c0001t0010g0151a0001c0001t0014g0001others(31): Show | 36 | 380 | 0.0947 | 9 | c.-17 others(20): Show |
RAB21 | ENSG00000080371.6 | transcript | ENST00000261263.5 | protein_coding | 1509 | chr12 | TogoVar | ||||||
RAB26_chr16_2143625_2159165 | 2148649 | T | TGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01071.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001a0001c0001t0005g0002a0001c0001t0005g0005others(1): Show | 9 | 384 | 0.0234 | 9 | c.-11 others(18): Show |
RAB26 | ENSG00000167964.13 | transcript | ENST00000210187.11 | protein_coding | 1/9 | 101 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
RAB27B_chr18_54823477_54900516 | 54868603 | C | CGTTGTTG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00673.hp2 others(68): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0015others(64): Show | 71 | 334 | 0.2126 | 9 | c.-19 others(26): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RAB28_chr4_13362724_13489340 | 13448912 | A | AAGCAGCA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02723.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0006g0174others(2): Show | 5 | 196 | 0.0255 | 9 | c.391 others(28): Show |
RAB28 | ENSG00000157869.16 | transcript | ENST00000288723.9 | protein_coding | 4/7 | chr4 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60526056 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG01516.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023 | a0001c0001t0003g0001a0001c0001t0003g0006a0001c0001t0003g0037others(9): Show | 13 | 358 | 0.0363 | 9 | c.46+ others(24): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RAB32_chr6_146538833_146559953 | 146555959 | A | ATATTATT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp2 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(42): Show | 77 | 414 | 0.1860 | 9 | c.*13 others(20): Show |
RAB32 | ENSG00000118508.5 | transcript | ENST00000367495.4 | protein_coding | 1007 | chr6 | TogoVar | ||||||
RAB33A_chrX_130166962_130189870 | 130182157 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0126 | 2 | 316 | 0.0063 | 9 | c.259 others(26): Show |
RAB33A | ENSG00000134594.5 | transcript | ENST00000257017.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RAB33A_chrX_130166962_130189870 | 130182157 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 316 | 0.0032 | 9 | c.259 others(26): Show |
RAB33A | ENSG00000134594.5 | transcript | ENST00000257017.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RAB33A_chrX_130166962_130189870 | 130182157 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 316 | 0.0032 | 9 | c.259 others(26): Show |
RAB33A | ENSG00000134594.5 | transcript | ENST00000257017.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RAB33A_chrX_130166962_130189870 | 130185536 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01169.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0030a0001c0001t0001g0031others(4): Show | 9 | 316 | 0.0285 | 9 | c.*79 others(18): Show |
RAB33A | ENSG00000134594.5 | transcript | ENST00000257017.5 | protein_coding | 667 | chrX | TogoVar | ||||||
RAB38_chr11_88108251_88180443 | 88122485 | A | AAAGATAA others(2): Show |
intron_variant | MODIFIER | NA18964.hp1 NA18974.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0102a0001c0001t0005g0103a0001c0001t0005g0107 | 3 | 420 | 0.0071 | 9 | c.484 others(26): Show |
RAB38 | ENSG00000123892.12 | transcript | ENST00000243662.11 | protein_coding | 2/2 | chr11 | TogoVar | ||||||
RAB38_chr11_88108251_88180443 | 88164256 | C | CGGCGGGG others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02683.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0010 | a0001c0001t0003g0277a0001c0001t0009g0285a0001c0001t0010g0309 | 3 | 420 | 0.0071 | 9 | c.202 others(28): Show |
RAB38 | ENSG00000123892.12 | transcript | ENST00000243662.11 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
RAB39A_chr11_107923448_107968482 | 107965960 | G | GATTATTA others(2): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012 | a0001c0001t0002g0151a0001c0001t0003g0010a0001c0001t0012g0393 | 4 | 406 | 0.0099 | 9 | c.*35 others(20): Show |
RAB39A | ENSG00000179331.3 | transcript | ENST00000320578.3 | protein_coding | 2479 | chr11 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58693153 | T | TAATTATA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0023others(2): Show | a0001c0001t0002g0060a0001c0001t0016g0009a0001c0001t0023g0120others(3): Show | 6 | 220 | 0.0273 | 9 | c.253 others(28): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |