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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPRG_chr3_61556571_62302609 | 61823547 | AAATGTGT others(16): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00735.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0019a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0034 others(19): Show |
22 | 94 | 0.2340 | -23 | c.190 others(42): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRJ_chr11_47975559_48175839 | 48092309 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0115 | 1 | 214 | 0.0047 | -23 | c.97- others(40): Show |
PTPRJ | ENSG00000149177.15 | transcript | ENST00000418331.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTPRK_chr6_127963785_128525599 | 128445197 | TATTTATA others(16): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03209.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0004a0001c0007t0006 | a0001c0003t0004g0052 a0001c0007t0006g0001 |
2 | 52 | 0.0385 | -23 | c.101 others(42): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
PTPRQ_chr12_80439235_80685273 | 80552643 | AATTATAT others(16): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03471.hp2 HG03540.hp1 |
a0045a0056a0060 | a0045c0071a0056c0067a0060c0072 | a0045c0071t0003a0056c0067t0002a0060c0072t0002 | a0045c0071t0003g0131 a0056c0067t0002g0004 a0060c0072t0002g0132 |
3 | 101 | 0.0297 | -23 | c.428 others(42): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42409481 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02647.hp2 HG02809.hp1 others(4): Show |
a0001a0002a0009 | a0001c0002a0001c0003a0001c0008others(3): Show | a0001c0002t0006a0001c0003t0018a0001c0008t0005others(3): Show | a0001c0002t0006g0036 a0001c0002t0006g0039 a0001c0003t0018g0046 others(4): Show |
7 | 11 | 0.6364 | -23 | c.156 others(44): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 9/30 | chr20 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972260 | AAAGAAAA others(16): Show |
A | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0274 | 1 | 266 | 0.0038 | -23 | c.150 others(42): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PUS7L_chr12_43713992_43763790 | 43718796 | AAAAAAAA others(16): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0014 | a0014c0017 | a0014c0017t0067 | a0014c0017t0067g0201 | 1 | 303 | 0.0033 | -23 | c.*11 others(36): Show |
PUS7L | ENSG00000129317.15 | transcript | ENST00000344862.10 | protein_coding | 195 | chr12 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51577976 | AAAGAAAG others(16): Show |
A | intron_variant | MODIFIER | NA18747.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0107 | 1 | 120 | 0.0083 | -23 | c.308 others(42): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51763380 | AAAGGGAC others(16): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG03017.hp2 |
a0001a0013 | a0001c0001a0013c0010 | a0001c0001t0002a0013c0010t0002 | a0001c0001t0002g0095 a0001c0001t0002g0096 a0013c0010t0002g0094 |
3 | 120 | 0.0250 | -23 | c.164 others(42): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1703244 | GGGGGGCA others(16): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG01993.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(9): Show | a0001c0001t0002g0211 a0001c0001t0004g0302 a0001c0001t0009g0039 others(13): Show |
16 | 320 | 0.0500 | -23 | c.201 others(42): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1703543 | GGGGGGGC others(16): Show |
G | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 320 | 0.0031 | -23 | c.201 others(42): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1703676 | GACAGCTC others(16): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02165.hp2 NA18612.hp2 others(11): Show |
a0001a0014 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0240 others(11): Show |
14 | 265 | 0.0528 | -23 | c.201 others(42): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXK_chr3_58327892_58431127 | 58336048 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 298 | 0.0034 | -23 | c.102 others(40): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
PXN_chr12_120205447_120270730 | 120249999 | GCTGCCAA others(16): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0007 | a0007c0027 | a0007c0027t0013 | a0007c0027t0013g0280 | 1 | 322 | 0.0031 | -23 | c.13+ others(40): Show |
PXN | ENSG00000089159.17 | transcript | ENST00000637617.2 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
PXN_chr12_120205447_120270730 | 120265747 | GCGCGCGC others(16): Show |
G | upstream_gene_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 322 | 0.0031 | -23 | c.-14 others(32): Show |
PXN | ENSG00000089159.17 | transcript | ENST00000637617.2 | protein_coding | 18 | chr12 | TogoVar | |||||||
PYCARD_chr16_31196486_31207760 | 31203523 | TCTGGGTT others(16): Show |
T | upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | -23 | c.-85 others(32): Show |
PYCARD | ENSG00000103490.14 | transcript | ENST00000247470.10 | protein_coding | 764 | chr16 | TogoVar | |||||||
PYGB_chr20_25243085_25303012 | 25281873 | AGCCTGCA others(16): Show |
A | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 370 | 0.0027 | -23 | c.140 others(40): Show |
PYGB | ENSG00000100994.12 | transcript | ENST00000216962.9 | protein_coding | 11/19 | chr20 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55548707 | TAAAAAAA others(16): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01891.hp2 others(37): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(12): Show | a0001c0001t0002g0045 a0001c0001t0006g0005 a0001c0001t0006g0026 others(36): Show |
40 | 61 | 0.6557 | -23 | c.135 others(38): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
QSOX1_chr1_180149869_180209030 | 180208547 | GTCATCTG others(16): Show |
G | downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 386 | 0.0026 | -23 | c.*11 others(36): Show |
QSOX1 | ENSG00000116260.17 | transcript | ENST00000367602.8 | protein_coding | 4518 | chr1 | TogoVar | |||||||
QSOX2_chr9_136201333_136250812 | 136237032 | TGTCCTGT others(16): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0291 | 1 | 388 | 0.0026 | -23 | c.328 others(40): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
QSOX2_chr9_136201333_136250812 | 136237433 | GTCCTGTG others(16): Show |
G | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0089 | 1 | 390 | 0.0026 | -23 | c.328 others(40): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
QSOX2_chr9_136201333_136250812 | 136237545 | CCACACCT others(16): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02145.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0014a0001c0001t0033others(1): Show | a0001c0001t0010g0174 a0001c0001t0010g0176 a0001c0001t0010g0250 others(7): Show |
10 | 390 | 0.0256 | -23 | c.328 others(40): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 425692 | TCCGGCCT others(16): Show |
T | 5_prime_UTR_variant | MODIFIER | NA18984.hp1 NA19077.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0002t0026 | a0001c0001t0027g0161 a0001c0002t0026g0169 |
2 | 294 | 0.0068 | -23 | c.-28 others(32): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/14 | 266 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31445560 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0296 | 1 | 263 | 0.0038 | -23 | c.336 others(42): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445562 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01884.hp1 HG02622.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0010a0001c0001t0012a0001c0002t0016others(2): Show | a0001c0001t0010g0131 a0001c0001t0012g0234 a0001c0002t0016g0006 others(2): Show |
5 | 299 | 0.0167 | -23 | c.336 others(42): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445564 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0034 | 1 | 304 | 0.0033 | -23 | c.336 others(42): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB12_chr18_8604437_8644383 | 8639147 | CTTTTTTT others(16): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 48 | 0.0208 | -23 | c.*90 others(32): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 6/6 | 908 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RAB19_chr7_140399058_140432974 | 140430963 | CTCTCCCT others(16): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0001t0022a0001c0005t0008 | a0001c0001t0008g0014 a0001c0001t0008g0115 a0001c0001t0022g0140 others(3): Show |
10 | 440 | 0.0227 | -23 | c.*48 others(34): Show |
RAB19 | ENSG00000146955.11 | transcript | ENST00000537763.6 | protein_coding | 2990 | chr7 | TogoVar | |||||||
RAB20_chr13_110518066_110566722 | 110563009 | GACCTTCT others(16): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG03225.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0084 a0001c0002t0001g0355 a0001c0003t0001g0263 others(2): Show |
5 | 424 | 0.0118 | -23 | c.-15 others(34): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1288 | chr13 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55208646 | ATCTTTCC others(16): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(101): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0021 others(101): Show |
104 | 318 | 0.3270 | -23 | c.468 others(40): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 6/6 | chr15 | TogoVar | |||||||
RAB2A_chr8_60511987_60628644 | 60530231 | CTCTGCCT others(16): Show |
C | intron_variant | MODIFIER | NA18943.hp1 NA18957.hp2 NA18983.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 others(1): Show |
4 | 356 | 0.0112 | -23 | c.46+ others(40): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60565676 | ATTTTTTT others(16): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG02258.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0016others(1): Show | a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 others(15): Show |
18 | 99 | 0.1818 | -23 | c.119 others(40): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9717689 | AAGAAGAA others(16): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0209 | 1 | 320 | 0.0031 | -23 | c.39+ others(38): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB39A_chr11_107923448_107968482 | 107936405 | ATCCCACT others(16): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(81): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0115 a0001c0001t0001g0137 a0001c0001t0002g0001 others(67): Show |
84 | 404 | 0.2079 | -23 | c.227 others(40): Show |
RAB39A | ENSG00000179331.3 | transcript | ENST00000320578.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58797353 | AATATGTA others(16): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0059 | a0001c0001t0043g0100 a0001c0001t0059g0216 |
2 | 163 | 0.0123 | -23 | c.372 others(42): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB4A_chr1_229266111_229310894 | 229292598 | GCAGAGAG others(16): Show |
G | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 398 | 0.0025 | -23 | c.228 others(40): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB4A_chr1_229266111_229310894 | 229302274 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 397 | 0.0025 | -23 | c.542 others(38): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302278 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 | 1 | 381 | 0.0026 | -23 | c.542 others(38): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302280 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0137 | 1 | 392 | 0.0026 | -23 | c.542 others(38): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302286 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 395 | 0.0025 | -23 | c.542 others(38): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42140499 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 303 | 0.0033 | -23 | c.-88 others(40): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42144925 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG02004.hp1 HG04199.hp1 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0131 a0001c0001t0001g0177 |
3 | 7 | 0.4286 | -23 | c.-89 others(40): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73722323 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 350 | 0.0029 | -23 | c.130 others(40): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
RAB7B_chr1_205971740_206008395 | 205972937 | CTACTCCC others(16): Show |
C | downstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0210 | 1 | 328 | 0.0030 | -23 | c.*58 others(34): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 3802 | chr1 | TogoVar | |||||||
RABEP1_chr17_5277284_5391340 | 5282103 | TCCCTCCG others(16): Show |
T | upstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0266 | 1 | 350 | 0.0029 | -23 | c.-38 others(32): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 180 | chr17 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174195708 | CTTTCTTT others(16): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0149 | 1 | 271 | 0.0037 | -23 | c.-33 others(42): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174586271 | GGAACAGA others(16): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp1 others(42): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0006c0006others(1): Show | a0001c0001t0004a0001c0001t0018a0001c0001t0032others(5): Show | a0001c0001t0004g0038 a0001c0001t0004g0223 a0001c0001t0004g0224 others(42): Show |
45 | 272 | 0.1654 | -23 | c.171 others(44): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1_chr9_122936020_123109866 | 122990797 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0095 | 1 | 180 | 0.0056 | -23 | c.923 others(38): Show |
RABGAP1 | ENSG00000011454.18 | transcript | ENST00000373647.9 | protein_coding | 6/25 | chr9 | TogoVar | |||||||
RABGAP1_chr9_122936020_123109866 | 123051216 | GTTTTTTT others(16): Show |
G | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0205 | 1 | 2 | 0.5000 | -23 | c.179 others(44): Show |
RABGAP1 | ENSG00000011454.18 | transcript | ENST00000373647.9 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RABGGTB_chr1_75781256_75800086 | 75782801 | TTTTGCAA others(16): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0014 |
5 | 402 | 0.0124 | -23 | c.-34 others(34): Show |
RABGGTB | ENSG00000137955.16 | transcript | ENST00000319942.8 | protein_coding | 3454 | chr1 | TogoVar |