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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB3C_chr5_58578075_58864394 | 58845612 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0049 | a0001c0001t0048g0137 a0001c0001t0049g0209 |
2 | 220 | 0.0091 | 26 | c.497 others(43): 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(19): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0105 | 1 | 220 | 0.0046 | 26 | c.497 others(43): 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(19): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 others(4): Show |
7 | 280 | 0.0250 | 26 | c.-39 others(37): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3918 | chr2 | TogoVar | |||||||
RAB3GAP1_chr2_135047292_135175710 | 135048373 | A | ACTCTCTC others(19): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0006 | a0003c0006t0009 | a0003c0006t0009g0251 | 1 | 280 | 0.0036 | 26 | c.-39 others(37): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3918 | chr2 | TogoVar | |||||||
RAB3GAP1_chr2_135047292_135175710 | 135117793 | C | CTTCTTCT others(19): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0011a0004c0005t0025 | a0004c0005t0011g0219 a0004c0005t0011g0220 a0004c0005t0011g0222 others(1): Show |
4 | 280 | 0.0143 | 26 | c.648 others(43): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP2_chr1_220143293_220277453 | 220214946 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0268 | 1 | 378 | 0.0027 | 26 | c.181 others(41): Show |
RAB3GAP2 | ENSG00000118873.17 | transcript | ENST00000358951.7 | protein_coding | 2/34 | chr1 | TogoVar | |||||||
RAB3IP_chr12_69733860_69828199 | 69817653 | T | TACACACA others(19): Show |
3_prime_UTR_variant | MODIFIER | NA18961.hp1 NA19077.hp1 |
a0002 | a0002c0004 | a0002c0004t0143a0002c0004t0144 | a0002c0004t0143g0280 a0002c0004t0144g0281 |
2 | 402 | 0.0050 | 26 | c.*22 others(37): Show |
RAB3IP | ENSG00000127328.22 | transcript | ENST00000247833.12 | protein_coding | 11/11 | 2242 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB40C_chr16_585066_634268 | 631698 | C | CCCTCTCC others(19): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 350 | 0.0029 | 26 | c.*40 others(37): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 2431 | chr16 | TogoVar | |||||||
RAB5B_chr12_55969078_56001683 | 55996003 | A | ATATATAT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0002 | 1 | 382 | 0.0026 | 26 | c.*37 others(37): Show |
RAB5B | ENSG00000111540.16 | transcript | ENST00000360299.10 | protein_coding | 6/6 | 3793 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB5B_chr12_55969078_56001683 | 55996003 | A | ATATATAT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0025 | 1 | 382 | 0.0026 | 26 | c.*37 others(37): Show |
RAB5B | ENSG00000111540.16 | transcript | ENST00000360299.10 | protein_coding | 6/6 | 3793 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01074.hp1 HG03540.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0001g0241 a0001c0001t0001g0252 others(3): Show |
8 | 398 | 0.0201 | 26 | c.219 others(41): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(19): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 398 | 0.0025 | 26 | c.219 others(41): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(19): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0234 |
3 | 398 | 0.0075 | 26 | c.219 others(41): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(19): Show |
intron_variant | MODIFIER | HG02280.hp2 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0225 |
2 | 398 | 0.0050 | 26 | c.219 others(41): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACTTACA others(19): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 398 | 0.0025 | 26 | c.219 others(41): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609256 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 398 | 0.0025 | 26 | c.219 others(41): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | chr20 | TogoVar | |||||||
RAB5IF_chr20_36600779_36617557 | 36614038 | A | ACTCACTA others(19): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 398 | 0.0025 | 26 | c.*19 others(37): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 1482 | chr20 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73685588 | G | GAAAGTCT others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0222 a0001c0001t0005g0223 |
2 | 354 | 0.0057 | 26 | c.496 others(43): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73739284 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 354 | 0.0028 | 26 | c.71- others(41): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73739284 | A | AAAATATA others(19): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 354 | 0.0028 | 26 | c.71- others(41): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73739304 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03041.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0116 a0001c0001t0006g0125 |
2 | 354 | 0.0057 | 26 | c.71- others(41): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73757094 | C | CATACATA others(19): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 354 | 0.0028 | 26 | c.70+ others(41): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB7A_chr3_128721183_128819798 | 128795751 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0240 |
2 | 314 | 0.0064 | 26 | c.53+ others(39): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB7A_chr3_128721183_128819798 | 128809936 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01255.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0263 others(2): Show |
5 | 314 | 0.0159 | 26 | c.528 others(43): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5287911 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0185 | 1 | 352 | 0.0028 | 26 | c.34+ others(41): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5323819 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 352 | 0.0028 | 26 | c.164 others(43): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5323839 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0002 | a0002c0006 | a0002c0006t0015 | a0002c0006t0015g0342 a0002c0006t0015g0343 |
2 | 352 | 0.0057 | 26 | c.164 others(43): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RABEP2_chr16_28899421_28930238 | 28929891 | T | TAGAGAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 366 | 0.0027 | 26 | c.-47 others(37): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4654 | chr16 | TogoVar | |||||||
RABEP2_chr16_28899421_28930238 | 28929893 | T | TATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 366 | 0.0027 | 26 | c.-47 others(37): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4656 | chr16 | TogoVar | |||||||
RABEP2_chr16_28899421_28930238 | 28929893 | T | TATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 366 | 0.0027 | 26 | c.-47 others(37): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4656 | chr16 | TogoVar | |||||||
RABEP2_chr16_28899421_28930238 | 28929893 | T | TATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 366 | 0.0027 | 26 | c.-47 others(37): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4656 | chr16 | TogoVar | |||||||
RABEP2_chr16_28899421_28930238 | 28929931 | G | GAGAGAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 366 | 0.0027 | 26 | c.-47 others(37): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4694 | chr16 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174327956 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0147 | 1 | 272 | 0.0037 | 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 | 174327990 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 272 | 0.0037 | 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 | 174351068 | T | TGGGGGGA others(19): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0200 | 1 | 272 | 0.0037 | 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 | 174364243 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0212 | 1 | 272 | 0.0037 | 26 | c.146 others(45): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174416035 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0016a0002c0003t0006 | a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0093 others(13): Show |
16 | 272 | 0.0588 | 26 | c.171 others(47): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174416035 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0220 | 1 | 272 | 0.0037 | 26 | c.171 others(47): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174434108 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0182 | 1 | 272 | 0.0037 | 26 | c.171 others(47): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174438744 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0144 | 1 | 272 | 0.0037 | 26 | c.171 others(47): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174502601 | C | CATATATG others(19): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0221 | 1 | 272 | 0.0037 | 26 | c.171 others(49): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174550983 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0071 | 1 | 272 | 0.0037 | 26 | c.171 others(47): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174550989 | T | TATATACA others(19): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 272 | 0.0037 | 26 | c.171 others(47): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174833449 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0159 | 1 | 272 | 0.0037 | 26 | c.234 others(47): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937619 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0198 | 1 | 272 | 0.0037 | 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 | C | CATATATA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0118 | a0001c0001t0118g0116 | 1 | 258 | 0.0039 | 26 | c.*39 others(35): Show |
RABGAP1 | ENSG00000011454.18 | transcript | ENST00000373647.9 | protein_coding | 26/26 | 425 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RABL2B_chr22_50762506_50788636 | 50787991 | G | GATAAATT others(19): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 476 | 0.0021 | 26 | c.-45 others(37): Show |
RABL2B | ENSG00000079974.19 | transcript | ENST00000691320.1 | protein_coding | 4356 | chr22 | TogoVar | |||||||
RAC2_chr22_37220270_37249269 | 37227050 | C | CCTCCCAT others(19): Show |
intron_variant | MODIFIER | HG03041.hp2 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0123 a0001c0002t0007g0202 |
2 | 448 | 0.0045 | 26 | c.449 others(41): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
RACGAP1_chr12_49984162_50030494 | 49991457 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG02559.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0143 a0001c0001t0001g0205 a0001c0001t0006g0177 others(1): Show |
4 | 324 | 0.0124 | 26 | c.171 others(43): Show |
RACGAP1 | ENSG00000161800.13 | transcript | ENST00000312377.10 | protein_coding | 15/16 | chr12 | TogoVar | |||||||
RACGAP1_chr12_49984162_50030494 | 49991479 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0028 | 1 | 324 | 0.0031 | 26 | c.171 others(43): Show |
RACGAP1 | ENSG00000161800.13 | transcript | ENST00000312377.10 | protein_coding | 15/16 | chr12 | TogoVar |