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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PXDN_chr2_1626887_1749515 | 1718294 | TAACCTAC others(19): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01255.hp2 others(13): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(11): Show | a0001c0001t0001g0161 a0001c0001t0002g0287 a0001c0001t0015g0037 others(13): Show |
16 | 322 | 0.0497 | -26 | c.201 others(45): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1720181 | GAGATGCA others(19): Show |
G | intron_variant | MODIFIER | HG01516.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0072 a0001c0001t0009g0073 |
2 | 322 | 0.0062 | -26 | c.200 others(45): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXK_chr3_58327892_58431127 | 58336049 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 300 | 0.0033 | -26 | c.102 others(43): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXK_chr3_58327892_58431127 | 58336051 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 300 | 0.0033 | -26 | c.102 others(43): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXK_chr3_58327892_58431127 | 58336057 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 300 | 0.0033 | -26 | c.102 others(43): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141248501 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG03579.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0019 | a0001c0001t0003g0332 a0001c0001t0005g0336 a0001c0001t0019g0331 |
3 | 384 | 0.0078 | -26 | c.-53 others(45): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141248693 | ATACACAC others(19): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0320 | 1 | 384 | 0.0026 | -26 | c.-53 others(45): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141256526 | ACACACAC others(19): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0131 | 1 | 384 | 0.0026 | -26 | c.-53 others(43): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141266636 | GGAGAGAC others(19): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03225.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0311 a0001c0001t0002g0293 a0001c0001t0009g0220 |
3 | 384 | 0.0078 | -26 | c.79+ others(41): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141268184 | AGAGAGAG others(19): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 384 | 0.0026 | -26 | c.79+ others(41): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PYCR1_chr17_81927391_81942300 | 81941561 | AGAAGCCC others(19): Show |
A | upstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | -26 | c.-47 others(37): Show |
PYCR1 | ENSG00000183010.17 | transcript | ENST00000329875.13 | protein_coding | 4262 | chr17 | TogoVar | |||||||
PYGB_chr20_25243085_25303012 | 25288577 | TACTCGGG others(19): Show |
T | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 372 | 0.0027 | -26 | c.182 others(42): Show |
PYGB | ENSG00000100994.12 | transcript | ENST00000216962.9 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PYHIN1_chr1_158926552_158982059 | 158976868 | CTATATAT others(19): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG01071.hp2 others(26): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0003a0001c0001t0019a0003c0002t0003 | a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 others(24): Show |
29 | 398 | 0.0729 | -26 | c.*19 others(35): Show |
PYHIN1 | ENSG00000163564.15 | transcript | ENST00000368140.6 | protein_coding | 9/9 | 3125 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
QRICH2_chr17_76269049_76313276 | 76287063 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02486.hp1 others(14): Show |
a0004a0005a0006 | a0004c0050a0005c0007a0005c0017others(1): Show | a0004c0050t0002a0005c0007t0003a0005c0017t0003others(1): Show | a0004c0050t0002g0049 a0005c0007t0003g0011 a0005c0007t0003g0012 others(14): Show |
17 | 364 | 0.0467 | -26 | c.401 others(43): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 7/18 | chr17 | TogoVar | |||||||
R3HCC1_chr8_23283108_23301279 | 23294897 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0058 | 1 | 472 | 0.0021 | -26 | c.119 others(41): Show |
R3HCC1 | ENSG00000104679.12 | transcript | ENST00000265806.12 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB10_chr2_26029084_26142454 | 26092261 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 |
3 | 212 | 0.0142 | -26 | c.128 others(43): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB11FIP1_chr8_37853618_37904497 | 37895218 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 264 | 0.0038 | -26 | c.371 others(43): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
RAB11FIP1_chr8_37853618_37904497 | 37895251 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0012 | a0012c0027 | a0012c0027t0028 | a0012c0027t0028g0236 | 1 | 264 | 0.0038 | -26 | c.371 others(43): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
RAB11FIP4_chr17_31386675_31543211 | 31445530 | TTTTATAT others(19): Show |
T | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0222 | 1 | 310 | 0.0032 | -26 | c.336 others(45): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445556 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG03239.hp1 HG03704.hp2 |
a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0119 a0003c0008t0001g0120 |
2 | 310 | 0.0065 | -26 | c.336 others(45): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445558 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0053 | a0001c0001t0001g0286 a0001c0001t0017g0223 a0001c0001t0053g0214 |
3 | 310 | 0.0097 | -26 | c.336 others(45): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445560 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0077 | 1 | 310 | 0.0032 | -26 | c.336 others(45): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB30_chr11_82968133_83076897 | 83014668 | AAGAAAGA others(19): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0210 | 1 | 328 | 0.0031 | -26 | c.-8- others(43): Show |
RAB30 | ENSG00000137502.10 | transcript | ENST00000527633.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
RAB31_chr18_9703301_9867551 | 9824385 | TGTGTGTG others(19): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp2 HG02280.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0033 others(24): Show |
27 | 322 | 0.0839 | -26 | c.380 others(43): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB32_chr6_146538833_146559953 | 146552326 | ATACTTGA others(19): Show |
A | intron_variant | MODIFIER | NA19002.hp2 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0154 | 1 | 414 | 0.0024 | -26 | c.529 others(43): Show |
RAB32 | ENSG00000118508.5 | transcript | ENST00000367495.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RAB33B_chr4_139449121_139481609 | 139450494 | AGGGAGAG others(19): Show |
A | upstream_gene_variant | MODIFIER | HG00621.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 a0001c0001t0008g0019 |
2 | 402 | 0.0050 | -26 | c.-37 others(37): Show |
RAB33B | ENSG00000172007.7 | transcript | ENST00000305626.6 | protein_coding | 3626 | chr4 | TogoVar | |||||||
RAB35_chr12_120090099_120121753 | 120118530 | CATCCTCT others(19): Show |
C | upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 414 | 0.0024 | -26 | c.-19 others(37): Show |
RAB35 | ENSG00000111737.12 | transcript | ENST00000229340.10 | protein_coding | 1778 | chr12 | TogoVar | |||||||
RAB39A_chr11_107923448_107968482 | 107946420 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0241 | 1 | 406 | 0.0025 | -26 | c.228 others(45): Show |
RAB39A | ENSG00000179331.3 | transcript | ENST00000320578.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58737394 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01981.hp2 HG02056.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(10): Show | a0001c0001t0001g0116 a0001c0001t0001g0153 a0001c0001t0001g0190 others(13): Show |
16 | 220 | 0.0727 | -26 | c.371 others(45): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58756321 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02896.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0029a0001c0001t0032others(3): Show | a0001c0001t0011g0133 a0001c0001t0029g0046 a0001c0001t0029g0047 others(4): Show |
7 | 220 | 0.0318 | -26 | c.371 others(45): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135081354 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0092 | 1 | 280 | 0.0036 | -26 | c.151 others(43): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB40C_chr16_585066_634268 | 632116 | GCCTCTCC others(19): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp2 HG02145.hp2 HG02165.hp2 others(20): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0018 others(18): Show |
23 | 350 | 0.0657 | -26 | c.*44 others(37): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 2849 | chr16 | TogoVar | |||||||
RAB44_chr6_36692826_36738184 | 36734313 | CAGAGAGA others(19): Show |
C | downstream_gene_variant | MODIFIER | HG03654.hp2 HG03710.hp2 HG04204.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0001t0014a0001c0001t0026others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0108 a0001c0001t0001g0112 others(6): Show |
9 | 428 | 0.0210 | -26 | c.*22 others(37): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1130 | chr6 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302287 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 400 | 0.0025 | -26 | c.542 others(41): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB5C_chr17_42119979_42159989 | 42144925 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | NA18984.hp2 NA18989.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0076 |
3 | 306 | 0.0098 | -26 | c.-89 others(43): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB5IF_chr20_36600779_36617557 | 36609193 | ACGCACAC others(19): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01123.hp2 HG01261.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0220 others(3): Show |
7 | 398 | 0.0176 | -26 | c.219 others(41): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73709826 | TATATACA others(19): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00673.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0016others(3): Show | a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 others(58): Show |
61 | 354 | 0.1723 | -26 | c.402 others(43): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 5/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73722325 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00609.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0262 others(17): Show |
20 | 354 | 0.0565 | -26 | c.130 others(43): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73731707 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0236 others(1): Show |
4 | 354 | 0.0113 | -26 | c.71- others(39): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73731709 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 354 | 0.0028 | -26 | c.71- others(39): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73731711 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03139.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0005 others(2): Show |
5 | 354 | 0.0141 | -26 | c.71- others(39): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6B_chr3_133819235_133900882 | 133889388 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG03225.hp2 HG03927.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0089a0001c0001t0090a0001c0002t0008 | a0001c0001t0089g0294 a0001c0001t0090g0295 a0001c0002t0008g0111 |
3 | 386 | 0.0078 | -26 | c.70+ others(41): Show |
RAB6B | ENSG00000154917.11 | transcript | ENST00000285208.9 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
RAB9B_chrX_103817327_103837257 | 103820957 | CACACACA others(19): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 331 | 0.0060 | -26 | c.*41 others(37): Show |
RAB9B | ENSG00000123570.4 | transcript | ENST00000243298.3 | protein_coding | 1369 | chrX | TogoVar | |||||||
RABEP2_chr16_28899421_28930238 | 28924965 | AGGCCCCG others(19): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03516.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 |
3 | 366 | 0.0082 | -26 | c.61+ others(39): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174172176 | TTGTGTGT others(19): Show |
T | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0057 | 1 | 272 | 0.0037 | -26 | c.-34 others(45): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174327960 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00733.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0016 | a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0092 others(13): Show |
16 | 272 | 0.0588 | -26 | c.146 others(47): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174656358 | TGAGGCAG others(19): Show |
T | intron_variant | MODIFIER | HG02080.hp2 NA18948.hp2 NA18980.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0161 a0001c0002t0003g0169 a0001c0002t0003g0171 others(2): Show |
5 | 272 | 0.0184 | -26 | c.182 others(47): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 14/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174854715 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG02145.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0033 a0001c0001t0020g0139 |
2 | 272 | 0.0074 | -26 | c.234 others(47): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1_chr9_122936020_123109866 | 123103588 | CATATATA others(19): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0126 | 1 | 258 | 0.0039 | -26 | c.*39 others(35): Show |
RABGAP1 | ENSG00000011454.18 | transcript | ENST00000373647.9 | protein_coding | 26/26 | 399 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RABL2B_chr22_50762506_50788636 | 50786264 | GTTAGGGT others(19): Show |
G | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01256.hp2 HG01258.hp2 others(37): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0059 others(12): Show |
40 | 476 | 0.0840 | -26 | c.-28 others(37): Show |
RABL2B | ENSG00000079974.19 | transcript | ENST00000691320.1 | protein_coding | 2629 | chr22 | TogoVar |