| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RAB11FIP4_chr17_31386675_31543211 | 31445566 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 310 | 0.0032 | -22 | c.336 others(41): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAB12_chr18_8604437_8644383 | 8639147 | CTTTTTTT others(15): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG02647.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0055 | a0001c0001t0020g0039a0001c0001t0020g0068a0001c0001t0020g0148others(2): Show | 6 | 404 | 0.0149 | -22 | c.*90 others(31): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 6/6 | 909 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
| RAB27A_chr15_55197966_55294813 | 55291510 | CAAAAAAA others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 320 | 0.0031 | -22 | c.-19 others(33): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 1698 | chr15 | TogoVar | ||||||
| RAB2A_chr8_60511987_60628644 | 60548303 | CAGAGTGG others(15): Show |
C | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 358 | 0.0028 | -22 | c.47- others(39): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
| RAB2A_chr8_60511987_60628644 | 60548305 | GAGTGGCT others(15): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(158): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0029a0001c0001t0002g0081a0001c0001t0002g0082others(157): Show | 161 | 358 | 0.4497 | -22 | c.47- others(39): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
| RAB2A_chr8_60511987_60628644 | 60565676 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012 | a0001c0001t0002g0098a0001c0001t0002g0115a0001c0001t0002g0119others(13): Show | 16 | 358 | 0.0447 | -22 | c.119 others(39): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RAB2B_chr14_21454020_21481959 | 21473065 | GGGATAGA others(15): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02615.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0002g0214a0001c0001t0006g0012a0001c0001t0006g0020others(4): Show | 15 | 412 | 0.0364 | -22 | c.186 others(39): Show |
RAB2B | ENSG00000129472.15 | transcript | ENST00000397762.6 | protein_coding | 3/7 | chr14 | TogoVar | ||||||
| RAB30_chr11_82968133_83076897 | 83060997 | TGGACTCC others(15): Show |
T | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 328 | 0.0031 | -22 | c.-9+ others(39): Show |
RAB30 | ENSG00000137502.10 | transcript | ENST00000527633.6 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
| RAB31_chr18_9703301_9867551 | 9719286 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 322 | 0.0031 | -22 | c.39+ others(39): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| RAB39A_chr11_107923448_107968482 | 107946418 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG02486.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033a0001c0001t0004g0395 | 2 | 406 | 0.0049 | -22 | c.228 others(41): Show |
RAB39A | ENSG00000179331.3 | transcript | ENST00000320578.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| RAB39A_chr11_107923448_107968482 | 107946420 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG02976.hp1 HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0002g0313 | 3 | 406 | 0.0074 | -22 | c.228 others(41): Show |
RAB39A | ENSG00000179331.3 | transcript | ENST00000320578.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58737394 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0037a0001c0001t0002g0129a0001c0001t0003g0204others(4): Show | 7 | 220 | 0.0318 | -22 | c.371 others(41): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58813592 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02895.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0084 | a0001c0001t0003g0033a0001c0001t0003g0121a0001c0001t0084g0217 | 3 | 220 | 0.0136 | -22 | c.372 others(41): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58813615 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02896.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0011a0001c0001t0016others(3): Show | a0001c0001t0010g0113a0001c0001t0011g0040a0001c0001t0011g0133others(7): Show | 10 | 220 | 0.0455 | -22 | c.372 others(41): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3GAP1_chr2_135047292_135175710 | 135081350 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0253a0001c0001t0012g0254 | 2 | 280 | 0.0071 | -22 | c.151 others(39): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RAB3GAP1_chr2_135047292_135175710 | 135117800 | TTCTTCTT others(15): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0266 | 1 | 280 | 0.0036 | -22 | c.648 others(39): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RAB3IP_chr12_69733860_69828199 | 69791919 | TATTGATG others(15): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0158 | a0001c0001t0158g0272 | 1 | 402 | 0.0025 | -22 | c.607 others(39): Show |
RAB3IP | ENSG00000127328.22 | transcript | ENST00000247833.12 | protein_coding | 4/10 | chr12 | TogoVar | ||||||
| RAB44_chr6_36692826_36738184 | 36696626 | TTCTTTCT others(15): Show |
T | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0007 | a0007c0011 | a0007c0011t0029 | a0007c0011t0029g0214 | 1 | 428 | 0.0023 | -22 | c.-13 others(33): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1199 | chr6 | TogoVar | ||||||
| RAB4A_chr1_229266111_229310894 | 229302257 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01099.hp2 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024a0001c0001t0003g0167a0001c0001t0003g0203others(4): Show | 8 | 400 | 0.0200 | -22 | c.542 others(37): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RAB5C_chr17_42119979_42159989 | 42140499 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 306 | 0.0033 | -22 | c.-88 others(39): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| RAB5C_chr17_42119979_42159989 | 42140501 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 306 | 0.0033 | -22 | c.-88 others(39): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| RAB5C_chr17_42119979_42159989 | 42140503 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0251a0001c0002t0001g0126others(2): Show | 7 | 306 | 0.0229 | -22 | c.-88 others(39): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| RAB5C_chr17_42119979_42159989 | 42140505 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0108a0001c0002t0006g0107 | 2 | 306 | 0.0065 | -22 | c.-88 others(39): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| RAB5C_chr17_42119979_42159989 | 42144925 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02165.hp2 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0098a0001c0001t0001g0223 | 3 | 306 | 0.0098 | -22 | c.-89 others(39): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| RAB5IF_chr20_36600779_36617557 | 36609189 | ACACACGC others(15): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 398 | 0.0025 | -22 | c.219 others(37): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RAB6A_chr11_73670638_73766074 | 73722323 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG03579.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0116a0001c0001t0006g0126 | 2 | 354 | 0.0057 | -22 | c.130 others(39): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
| RAB6A_chr11_73670638_73766074 | 73722325 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG03041.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0114a0001c0001t0006g0125 | 2 | 354 | 0.0057 | -22 | c.130 others(39): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
| RAB6A_chr11_73670638_73766074 | 73722331 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 354 | 0.0028 | -22 | c.130 others(39): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
| RAB6A_chr11_73670638_73766074 | 73731684 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0222a0001c0001t0005g0223 | 2 | 354 | 0.0057 | -22 | c.71- others(35): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| RAB6A_chr11_73670638_73766074 | 73731711 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01358.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0120a0001c0001t0001g0141a0001c0001t0001g0152others(9): Show | 12 | 354 | 0.0339 | -22 | c.71- others(35): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| RAB6A_chr11_73670638_73766074 | 73731715 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG01496.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016a0001c0001t0023 | a0001c0001t0003g0010a0001c0001t0003g0025a0001c0001t0003g0048others(6): Show | 9 | 354 | 0.0254 | -22 | c.71- others(35): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| RAB6B_chr3_133819235_133900882 | 133889388 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG02040.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0026others(7): Show | a0001c0001t0004g0003a0001c0001t0005g0113a0001c0001t0005g0116others(9): Show | 13 | 386 | 0.0337 | -22 | c.70+ others(37): Show |
RAB6B | ENSG00000154917.11 | transcript | ENST00000285208.9 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
| RAB9B_chrX_103817327_103837257 | 103820961 | CACACACA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG01928.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0033others(2): Show | 27 | 331 | 0.0816 | -22 | c.*41 others(33): Show |
RAB9B | ENSG00000123570.4 | transcript | ENST00000243298.3 | protein_coding | 1365 | chrX | TogoVar | ||||||
| RABEP1_chr17_5277284_5391340 | 5282090 | CCTCCCGC others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01433.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0026 | a0001c0001t0001g0325a0001c0002t0026g0140 | 2 | 352 | 0.0057 | -22 | c.-39 others(31): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 193 | chr17 | TogoVar | ||||||
| RABEP1_chr17_5277284_5391340 | 5282096 | GCCGCGCT others(15): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01123.hp2 HG01243.hp1 others(55): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(20): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0016others(55): Show | 58 | 352 | 0.1648 | -22 | c.-39 others(31): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 187 | chr17 | TogoVar | ||||||
| RABEP1_chr17_5277284_5391340 | 5323759 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG00408.hp2 NA18945.hp2 NA19065.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0041a0001c0003t0003a0001c0003t0044 | a0001c0002t0041g0191a0001c0003t0003g0192a0001c0003t0044g0193 | 3 | 352 | 0.0085 | -22 | c.164 others(39): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RABEP1_chr17_5277284_5391340 | 5373693 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG00609.hp2 NA18959.hp2 NA19058.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0058a0001c0002t0006g0143a0001c0002t0006g0148 | 3 | 352 | 0.0085 | -22 | c.202 others(39): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174172176 | TTGTGTGT others(15): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01081.hp2 HG01243.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(2): Show | a0001c0001t0002g0137a0001c0001t0002g0145a0001c0001t0005g0001others(17): Show | 20 | 272 | 0.0735 | -22 | c.-34 others(41): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174195637 | CTTCCTTC others(15): Show |
C | intron_variant | MODIFIER | NA18986.hp1 NA18990.hp2 NA19062.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0188a0001c0002t0003g0193a0001c0002t0003g0210 | 3 | 272 | 0.0110 | -22 | c.-33 others(41): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174327964 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG01257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096a0001c0001t0002g0103a0001c0001t0002g0105others(3): Show | 6 | 272 | 0.0221 | -22 | c.146 others(43): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174438744 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0010 | 1 | 272 | 0.0037 | -22 | c.171 others(43): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174516120 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 272 | 0.0037 | -22 | c.171 others(45): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174577210 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0005 | a0005c0008 | a0005c0008t0015 | a0005c0008t0015g0218 | 1 | 272 | 0.0037 | -22 | c.171 others(43): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174799930 | GCACACAC others(15): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(113): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(113): Show | 116 | 272 | 0.4265 | -22 | c.221 others(43): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174866110 | GGAGAGAG others(15): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0154a0001c0001t0014g0155a0001c0001t0014g0156 | 3 | 272 | 0.0110 | -22 | c.234 others(43): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174946936 | ATATATGT others(15): Show |
A | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0193 | 1 | 272 | 0.0037 | -22 | c.234 others(43): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RABGAP1_chr9_122936020_123109866 | 123103588 | CATATATA others(15): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03579.hp2 HG03942.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0059a0001c0001t0060 | a0001c0001t0058g0180a0001c0001t0059g0256a0001c0001t0060g0200 | 3 | 258 | 0.0116 | -22 | c.*40 others(31): Show |
RABGAP1 | ENSG00000011454.18 | transcript | ENST00000373647.9 | protein_coding | 26/26 | 403 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
| RABL2B_chr22_50762506_50788636 | 50774552 | CAGCCTTG others(15): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0179 | 1 | 476 | 0.0021 | -22 | c.297 others(39): Show |
RABL2B | ENSG00000079974.19 | transcript | ENST00000691320.1 | protein_coding | 5/8 | chr22 | TogoVar | ||||||
| RABL6_chr9_136802948_136846187 | 136818384 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01433.hp1 others(24): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0032a0001c0001t0001g0258others(22): Show | 27 | 330 | 0.0818 | -22 | c.131 others(39): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| RAC1_chr7_6369527_6408967 | 6407843 | GTTTTTTT others(15): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01515.hp1 HG01891.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0360a0001c0001t0004g0067a0001c0001t0005g0083others(19): Show | 26 | 392 | 0.0663 | -22 | c.*53 others(33): Show |
RAC1 | ENSG00000136238.20 | transcript | ENST00000348035.9 | protein_coding | 3877 | chr7 | TogoVar |