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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB10_chr2_26029084_26142454 | 26079312 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02970.hp2 HG03041.hp1 HG03471.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0092a0001c0001t0001g0148a0001c0001t0004g0001others(3): Show | 6 | 212 | 0.0283 | -12 | c.128 others(31): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAB10_chr2_26029084_26142454 | 26092261 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG01891.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0149a0001c0001t0003g0040a0001c0001t0003g0051others(10): Show | 13 | 212 | 0.0613 | -12 | c.128 others(29): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAB10_chr2_26029084_26142454 | 26098101 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0091 | 1 | 212 | 0.0047 | -12 | c.128 others(27): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAB10_chr2_26029084_26142454 | 26098109 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18960.hp2 NA18972.hp2 NA18991.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0119a0001c0001t0002g0145a0001c0001t0002g0200others(1): Show | 4 | 212 | 0.0189 | -12 | c.128 others(27): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAB10_chr2_26029084_26142454 | 26108879 | ATATTTAT others(5): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 212 | 0.0047 | -12 | c.189 others(27): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAB10_chr2_26029084_26142454 | 26139006 | AAAAAAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0082 | 1 | 212 | 0.0047 | -12 | c.*39 others(23): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1553 | chr2 | TogoVar | ||||||
RAB10_chr2_26029084_26142454 | 26140452 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01433.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0003g0004a0001c0001t0003g0012a0001c0001t0006g0084others(8): Show | 11 | 212 | 0.0519 | -12 | c.*54 others(23): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 2999 | chr2 | TogoVar | ||||||
RAB11A_chr15_65864491_65896989 | 65871919 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0049 | 1 | 354 | 0.0028 | -12 | c.40+ others(27): Show |
RAB11A | ENSG00000103769.10 | transcript | ENST00000261890.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
RAB11A_chr15_65864491_65896989 | 65894733 | ATTTTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | NA18951.hp1 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088a0001c0001t0002g0139 | 2 | 354 | 0.0057 | -12 | c.*68 others(23): Show |
RAB11A | ENSG00000103769.10 | transcript | ENST00000261890.7 | protein_coding | 2745 | chr15 | TogoVar | ||||||
RAB11FIP1_chr8_37853618_37904497 | 37876214 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02622.hp1 others(8): Show |
a0001a0002a0004others(4): Show | a0001c0023a0002c0002a0002c0021others(5): Show | a0001c0023t0001a0002c0002t0001a0002c0021t0001others(7): Show | a0001c0023t0001g0005a0002c0002t0001g0204a0002c0021t0001g0002others(8): Show | 11 | 264 | 0.0417 | -12 | c.814 others(27): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
RAB11FIP1_chr8_37853618_37904497 | 37878533 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0115 | 1 | 264 | 0.0038 | -12 | c.372 others(27): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
RAB11FIP1_chr8_37853618_37904497 | 37881286 | CCCTATTC others(5): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03225.hp2 |
a0006a0013 | a0006c0026a0013c0027 | a0006c0026t0005a0013c0027t0028 | a0006c0026t0005g0016a0013c0027t0028g0236 | 2 | 264 | 0.0076 | -12 | c.372 others(29): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
RAB11FIP1_chr8_37853618_37904497 | 37894701 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 264 | 0.0038 | -12 | c.371 others(29): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
RAB11FIP1_chr8_37853618_37904497 | 37895259 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | NA20805.hp1 NA20805.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0002 | a0002c0002t0001g0207a0004c0004t0002g0206 | 2 | 264 | 0.0076 | -12 | c.371 others(29): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
RAB11FIP2_chr10_117999916_118051941 | 118003142 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02895.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0189a0001c0001t0022g0190 | 2 | 400 | 0.0050 | -12 | c.*58 others(23): Show |
RAB11FIP2 | ENSG00000107560.12 | transcript | ENST00000355624.8 | protein_coding | 1773 | chr10 | TogoVar | ||||||
RAB11FIP2_chr10_117999916_118051941 | 118049686 | TGATAGAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01256.hp1 HG01884.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0001g0011a0001c0001t0001g0028a0001c0001t0006g0063others(9): Show | 15 | 400 | 0.0375 | -12 | c.-35 others(23): Show |
RAB11FIP2 | ENSG00000107560.12 | transcript | ENST00000355624.8 | protein_coding | 2746 | chr10 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 446703 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0170 | 1 | 295 | 0.0034 | -12 | c.715 others(31): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 448932 | CATAAATA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016 | a0001c0001t0010g0004a0001c0001t0016g0003 | 2 | 295 | 0.0068 | -12 | c.715 others(31): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 500687 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 295 | 0.0034 | -12 | c.130 others(31): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31391535 | GCCGCCGC others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02886.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(2): Show | a0001c0001t0002g0154a0001c0001t0007g0159a0001c0001t0012g0158others(4): Show | 7 | 310 | 0.0226 | -12 | c.-31 others(21): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 139 | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31402598 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0061 | 1 | 310 | 0.0032 | -12 | c.159 others(31): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31445572 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0095 | 1 | 310 | 0.0032 | -12 | c.336 others(31): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31447003 | AGGCGGGT others(5): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0061 | 1 | 310 | 0.0032 | -12 | c.336 others(31): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31450321 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG02109.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(3): Show | a0001c0001t0001g0184a0001c0001t0012g0032a0001c0001t0012g0158others(4): Show | 7 | 310 | 0.0226 | -12 | c.336 others(31): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31453369 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02818.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0015 | a0001c0001t0001g0166a0001c0018t0015g0014 | 2 | 310 | 0.0065 | -12 | c.336 others(31): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31480793 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154a0001c0001t0002g0173a0001c0001t0002g0175 | 3 | 310 | 0.0097 | -12 | c.337 others(31): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31542199 | TTGACAGC others(5): Show |
T | downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0266 | 1 | 310 | 0.0032 | -12 | c.*10 others(25): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3989 | chr17 | TogoVar | ||||||
RAB11FIP5_chr2_73068382_73117948 | 73081095 | TTCCTCCT others(5): Show |
T | conservative_inframe_deletion | MODERATE | HG02056.hp1 | a0022 | a0022c0026 | a0022c0026t0004 | a0022c0026t0004g0196 | 1 | 378 | 0.0027 | -12 | c.212 others(21): Show |
p.Gly others(13): Show |
RAB11FIP5 | ENSG00000135631.17 | transcript | ENST00000486777.7 | protein_coding | 4/6 | 2307/6285 | 2125/3975 | 709/1324 | chr2 | TogoVar | ||
RAB12_chr18_8604437_8644383 | 8630876 | GTTTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0065 | 1 | 404 | 0.0025 | -12 | c.576 others(29): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RAB12_chr18_8604437_8644383 | 8639144 | GTTCTTTT others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0052 | 2 | 404 | 0.0050 | -12 | c.*88 others(21): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 6/6 | 885 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
RAB12_chr18_8604437_8644383 | 8639147 | CTTTTTTT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0045 | a0001c0001t0014g0007a0001c0001t0014g0071a0001c0001t0014g0084others(5): Show | 9 | 404 | 0.0223 | -12 | c.*91 others(21): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 6/6 | 919 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
RAB17_chr2_237569326_237595734 | 237578900 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp2 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0002c0003others(2): Show | a0001c0001t0008a0001c0001t0011a0001c0008t0008others(3): Show | a0001c0001t0008g0225a0001c0001t0011g0034a0001c0008t0008g0173others(3): Show | 11 | 424 | 0.0259 | -12 | c.158 others(27): Show |
RAB17 | ENSG00000124839.13 | transcript | ENST00000264601.8 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
RAB18_chr10_27499304_27547239 | 27520916 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056 | 2 | 410 | 0.0049 | -12 | c.125 others(29): Show |
RAB18 | ENSG00000099246.18 | transcript | ENST00000356940.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RAB19_chr7_140399058_140432974 | 140424586 | CCTCTCTC others(5): Show |
C | intron_variant | MODIFIER | HG02293.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 442 | 0.0045 | -12 | c.386 others(29): Show |
RAB19 | ENSG00000146955.11 | transcript | ENST00000537763.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
RAB19_chr7_140399058_140432974 | 140424609 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG01934.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0026 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0084others(9): Show | 15 | 442 | 0.0339 | -12 | c.386 others(29): Show |
RAB19 | ENSG00000146955.11 | transcript | ENST00000537763.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
RAB19_chr7_140399058_140432974 | 140424613 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | NA18988.hp2 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0330 | 2 | 442 | 0.0045 | -12 | c.386 others(29): Show |
RAB19 | ENSG00000146955.11 | transcript | ENST00000537763.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
RAB19_chr7_140399058_140432974 | 140424615 | CTCTCTAT others(5): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 442 | 0.0023 | -12 | c.386 others(29): Show |
RAB19 | ENSG00000146955.11 | transcript | ENST00000537763.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
RAB1A_chr2_65081854_65135106 | 65105511 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18939.hp2 NA19085.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0272a0001c0002t0001g0273 | 2 | 340 | 0.0059 | -12 | c.24- others(25): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
RAB1A_chr2_65081854_65135106 | 65122154 | TCAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02273.hp1 HG02965.hp2 NA18957.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0168a0001c0001t0001g0169others(1): Show | 4 | 340 | 0.0118 | -12 | c.23+ others(27): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
RAB1B_chr11_66263639_66282492 | 66270233 | TTTGTTGT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(315): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(120): Show | 318 | 426 | 0.7465 | -12 | c.15- others(27): Show |
RAB1B | ENSG00000174903.16 | transcript | ENST00000311481.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RAB20_chr13_110518066_110566722 | 110527900 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG03516.hp1 NA19055.hp2 others(1): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0008 | a0001c0002t0002a0001c0002t0004a0001c0003t0004others(1): Show | a0001c0002t0002g0193a0001c0002t0004g0228a0001c0003t0004g0047others(1): Show | 4 | 426 | 0.0094 | -12 | c.173 others(29): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
RAB20_chr13_110518066_110566722 | 110527932 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG02886.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0373a0001c0002t0002g0386a0001c0002t0002g0387others(3): Show | 6 | 426 | 0.0141 | -12 | c.173 others(29): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
RAB20_chr13_110518066_110566722 | 110552692 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03195.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0022a0001c0001t0003g0021a0001c0002t0002g0040 | 3 | 426 | 0.0070 | -12 | c.172 others(29): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
RAB20_chr13_110518066_110566722 | 110564697 | GGGCACTG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0400 | 1 | 426 | 0.0024 | -12 | c.-31 others(23): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 2976 | chr13 | TogoVar | ||||||
RAB21_chr12_71749863_71805286 | 71794421 | ATATATAT others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0063 | a0001c0002t0063g0096 | 1 | 380 | 0.0026 | -12 | c.*87 others(23): Show |
RAB21 | ENSG00000080371.6 | transcript | ENST00000261263.5 | protein_coding | 7/7 | 8750 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
RAB21_chr12_71749863_71805286 | 71794423 | ATATATTT others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0182 | a0001c0001t0182g0054 | 1 | 380 | 0.0026 | -12 | c.*87 others(23): Show |
RAB21 | ENSG00000080371.6 | transcript | ENST00000261263.5 | protein_coding | 7/7 | 8752 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
RAB22A_chr20_58304715_58372507 | 58308211 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG04115.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315a0001c0001t0001g0320 | 2 | 394 | 0.0051 | -12 | c.-17 others(23): Show |
RAB22A | ENSG00000124209.4 | transcript | ENST00000244040.4 | protein_coding | 1503 | chr20 | TogoVar | ||||||
RAB22A_chr20_58304715_58372507 | 58312472 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0050 | 1 | 394 | 0.0025 | -12 | c.116 others(29): Show |
RAB22A | ENSG00000124209.4 | transcript | ENST00000244040.4 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RAB27A_chr15_55197966_55294813 | 55217663 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0035 | 1 | 320 | 0.0031 | -12 | c.467 others(29): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 6/6 | chr15 | TogoVar | ||||||
RAB27A_chr15_55197966_55294813 | 55222988 | ATGCTGCT others(5): Show |
A | intron_variant | MODIFIER | HG03688.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167a0001c0001t0001g0211 | 2 | 320 | 0.0063 | -12 | c.467 others(27): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 6/6 | chr15 | TogoVar |