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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PSKH1_chr16_67888254_67934676 | 67933981 | TTCACGTG others(20): Show |
T | downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 230 | 0.0044 | -27 | c.*63 others(38): Show |
PSKH1 | ENSG00000159792.10 | transcript | ENST00000291041.6 | protein_coding | 4306 | chr16 | TogoVar | ||||||
PSKH2_chr8_86042109_86074668 | 86049718 | GAAAGAAA others(20): Show |
G | intron_variant | MODIFIER | HG01943.hp1 HG02273.hp2 HG02738.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0106a0001c0001t0001g0124 | 4 | 420 | 0.0095 | -27 | c.853 others(42): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
PSMB2_chr1_35594541_35646526 | 35595886 | CTGTTACC others(20): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01255.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0013a0001c0001t0005g0011a0001c0001t0005g0012 | 3 | 300 | 0.0100 | -27 | c.*73 others(38): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3654 | chr1 | TogoVar | ||||||
PSMB2_chr1_35594541_35646526 | 35628593 | AAAAATAT others(20): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0118 | 1 | 300 | 0.0033 | -27 | c.285 others(44): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PSME3IP1_chr16_57147466_57191039 | 57186323 | GGTGGGCT others(20): Show |
G | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 364 | 0.0028 | -27 | c.-54 others(36): Show |
PSME3IP1 | ENSG00000172775.18 | transcript | ENST00000309137.13 | protein_coding | 285 | chr16 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 474982 | TTGTGATA others(20): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0010others(83): Show | 91 | 346 | 0.2630 | -27 | c.367 others(44): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 475004 | AGTTTGTG others(20): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0247a0001c0001t0006g0190 | 2 | 346 | 0.0058 | -27 | c.367 others(44): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTGR3_chr18_75190113_75214139 | 75209166 | CCTCCTCC others(20): Show |
C | upstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 434 | 0.0023 | -27 | c.-13 others(36): Show |
PTGR3 | ENSG00000180011.7 | transcript | ENST00000322342.4 | protein_coding | 28 | chr18 | TogoVar | ||||||
PTH2R_chr2_208401792_208499506 | 208477937 | CTACTAGT others(20): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03098.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0148a0001c0003t0003g0152 | 2 | 294 | 0.0068 | -27 | c.982 others(44): Show |
PTH2R | ENSG00000144407.10 | transcript | ENST00000272847.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PTH2R_chr2_208401792_208499506 | 208477946 | GTACTAGC others(20): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(131): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(120): Show | 134 | 294 | 0.4558 | -27 | c.982 others(44): Show |
PTH2R | ENSG00000144407.10 | transcript | ENST00000272847.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PTK2B_chr8_27320552_27464386 | 27350991 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0006 | 1 | 328 | 0.0031 | -27 | c.-38 others(46): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 1/30 | chr8 | TogoVar | ||||||
PTK2_chr8_140652900_141006282 | 140670483 | ACAACAAC others(20): Show |
A | intron_variant | MODIFIER | HG01496.hp1 NA18970.hp2 NA19085.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0019a0002c0002t0002 | a0001c0001t0002g0025a0001c0001t0002g0028a0001c0001t0002g0067others(2): Show | 5 | 290 | 0.0172 | -27 | c.283 others(44): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 32/35 | chr8 | TogoVar | ||||||
PTP4A2_chr1_31901421_31943368 | 31908113 | AATATATA others(20): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0228 | 1 | 354 | 0.0028 | -27 | c.*71 others(36): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 712 | chr1 | TogoVar | |||||
PTP4A2_chr1_31901421_31943368 | 31908135 | TTATATTA others(20): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02056.hp2 HG03491.hp2 HG03834.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0103a0001c0001t0104others(1): Show | a0001c0001t0035g0194a0001c0001t0035g0324a0001c0001t0103g0184others(2): Show | 5 | 354 | 0.0141 | -27 | c.*69 others(36): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 690 | chr1 | TogoVar | |||||
PTPN12_chr7_77532295_77645069 | 77586439 | ACCAGGAA others(20): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0048 | 1 | 310 | 0.0032 | -27 | c.420 others(42): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PTPN23_chr3_47376021_47418435 | 47409961 | AGCCCCAA others(20): Show |
A | disruptive_inframe_deletion | MODERATE | NA18941.hp1 | a0022 | a0022c0020 | a0022c0020t0001 | a0022c0020t0001g0126 | 1 | 332 | 0.0030 | -27 | c.216 others(36): Show |
p.Ala others(13): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 2241/5237 | 2165/4911 | 722/1636 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
PTPRA_chr20_2868481_3043669 | 2910356 | TTTTATAT others(20): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01123.hp1 HG02602.hp1 others(13): Show |
a0001a0005 | a0001c0004a0001c0006a0005c0018 | a0001c0004t0004a0001c0006t0001a0005c0018t0004 | a0001c0004t0004g0171a0001c0004t0004g0173a0001c0004t0004g0174others(13): Show | 16 | 356 | 0.0449 | -27 | c.-12 others(48): Show |
PTPRA | ENSG00000132670.21 | transcript | ENST00000399903.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PTPRD_chr9_8309246_10618002 | 8364614 | AGCATGTC others(20): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA19240.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0005a0001c0007t0021 | a0001c0002t0005g0025a0001c0007t0021g0002 | 2 | 34 | 0.0588 | -27 | c.466 others(48): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 39/45 | chr9 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 9275128 | TTATATAT others(20): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0014 | a0001c0014t0025 | a0001c0014t0025g0033 | 1 | 34 | 0.0294 | -27 | c.-20 others(48): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 9/45 | chr9 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 10238145 | CCATACAA others(20): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01099.hp2 others(7): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(6): Show | a0001c0001t0001g0006a0001c0001t0002g0013a0001c0001t0002g0018others(7): Show | 10 | 34 | 0.2941 | -27 | c.-54 others(50): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 3/45 | chr9 | TogoVar | ||||||
PTPRR_chr12_70633079_70925738 | 70659929 | TTTGGGAG others(20): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00621.hp1 others(30): Show |
a0001a0002a0014 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0029a0001c0001t0001g0030others(30): Show | 33 | 204 | 0.1618 | -27 | c.176 others(45): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 12/13 | chr12 | TogoVar | ||||||
PTPRS_chr19_5200508_5345812 | 5239102 | AGAGAGAG others(20): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG03831.hp2 HG04115.hp2 |
a0001 | a0001c0002a0001c0020 | a0001c0002t0013a0001c0020t0001 | a0001c0002t0013g0013a0001c0002t0013g0163a0001c0020t0001g0178 | 3 | 276 | 0.0109 | -27 | c.170 others(42): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 12/37 | chr19 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42363290 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0037 | 1 | 62 | 0.0161 | -27 | c.156 others(48): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 9/30 | chr20 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42686457 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02109.hp2 NA20905.hp1 others(1): Show |
a0001a0002 | a0001c0030a0002c0001a0002c0016 | a0001c0030t0001a0002c0001t0002a0002c0001t0026others(1): Show | a0001c0030t0001g0035a0002c0001t0002g0015a0002c0001t0026g0012others(1): Show | 4 | 62 | 0.0645 | -27 | c.860 others(44): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 6/30 | chr20 | TogoVar | ||||||
PUDP_chrX_7043920_7153153 | 7055940 | TTGGCTCT others(20): Show |
T | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 260 | 0.0039 | -27 | c.511 others(44): Show |
PUDP | ENSG00000130021.15 | transcript | ENST00000381077.10 | protein_coding | 3/3 | chrX | TogoVar | ||||||
PUM2_chr2_20243737_20355844 | 20290435 | TATTTACC others(20): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(311): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(311): Show | 314 | 358 | 0.8771 | -27 | c.129 others(44): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 10/20 | chr2 | TogoVar | ||||||
PUS7L_chr12_43713992_43763790 | 43718790 | AAAAAAAA others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0022 | 2 | 306 | 0.0065 | -27 | c.*11 others(40): Show |
PUS7L | ENSG00000129317.15 | transcript | ENST00000344862.10 | protein_coding | 201 | chr12 | TogoVar | ||||||
QSOX2_chr9_136201333_136250812 | 136231870 | AATCCGCC others(20): Show |
A | intron_variant | MODIFIER | HG03710.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0281a0001c0001t0006g0282 | 2 | 392 | 0.0051 | -27 | c.329 others(44): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
QSOX2_chr9_136201333_136250812 | 136236966 | ACACCTGG others(20): Show |
A | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0321 | 1 | 392 | 0.0026 | -27 | c.328 others(44): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
QSOX2_chr9_136201333_136250812 | 136236978 | TGTCCTGG others(20): Show |
T | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 392 | 0.0026 | -27 | c.328 others(44): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
QSOX2_chr9_136201333_136250812 | 136237456 | ATCCTGTG others(20): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(86): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(30): Show | a0001c0001t0001g0221a0001c0001t0001g0313a0001c0001t0004g0257others(69): Show | 89 | 392 | 0.2270 | -27 | c.328 others(44): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
RAB11FIP1_chr8_37853618_37904497 | 37895239 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 264 | 0.0038 | -27 | c.371 others(44): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31436754 | TTTTTTTT others(20): Show |
T | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0205 | 1 | 310 | 0.0032 | -27 | c.336 others(44): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31445554 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02818.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0015 | a0001c0001t0001g0166a0001c0018t0015g0014 | 2 | 310 | 0.0065 | -27 | c.336 others(46): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31445558 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0228 | 1 | 310 | 0.0032 | -27 | c.336 others(46): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB12_chr18_8604437_8644383 | 8639147 | CTTTTTTT others(20): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0219a0001c0001t0042g0220 | 2 | 404 | 0.0050 | -27 | c.*90 others(36): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 6/6 | 904 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
RAB13_chr1_153976650_153991339 | 153982326 | CACACACA others(20): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 408 | 0.0025 | -27 | c.534 others(40): Show |
RAB13 | ENSG00000143545.10 | transcript | ENST00000368575.5 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
RAB21_chr12_71749863_71805286 | 71804279 | CTCCATGA others(20): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0025 | 1 | 380 | 0.0026 | -27 | c.*18 others(40): Show |
RAB21 | ENSG00000080371.6 | transcript | ENST00000261263.5 | protein_coding | 3994 | chr12 | TogoVar | ||||||
RAB24_chr5_177296198_177308719 | 177308612 | ATCCGCCT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 404 | 0.0025 | -27 | c.-53 others(38): Show |
RAB24 | ENSG00000169228.14 | transcript | ENST00000303251.11 | protein_coding | 4894 | chr5 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60541090 | TACCCTTG others(20): Show |
T | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 358 | 0.0028 | -27 | c.47- others(44): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60546044 | CATTTAAA others(20): Show |
C | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 358 | 0.0028 | -27 | c.47- others(44): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RAB2A_chr8_60511987_60628644 | 60565676 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG01516.hp1 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0269a0001c0001t0002g0090 | 2 | 358 | 0.0056 | -27 | c.119 others(44): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RAB32_chr6_146538833_146559953 | 146557342 | TTTTGGTT others(20): Show |
T | downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 414 | 0.0024 | -27 | c.*27 others(38): Show |
RAB32 | ENSG00000118508.5 | transcript | ENST00000367495.4 | protein_coding | 2390 | chr6 | TogoVar | ||||||
RAB38_chr11_88108251_88180443 | 88177861 | GGGAGGGG others(20): Show |
G | upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 420 | 0.0024 | -27 | c.-25 others(38): Show |
RAB38 | ENSG00000123892.12 | transcript | ENST00000243662.11 | protein_coding | 2419 | chr11 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58586878 | TAAATATC others(20): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0132 | 1 | 220 | 0.0046 | -27 | c.24+ others(42): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58627471 | TAAAAAAA others(20): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01168.hp1 HG01243.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0001g0073a0001c0001t0001g0199a0001c0001t0006g0173others(3): Show | 6 | 220 | 0.0273 | -27 | c.252 others(44): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RAB42_chr1_28587265_28600449 | 28592435 | CCGGCGGG others(20): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 2 | 378 | 0.0053 | -27 | c.-73 others(34): Show |
RAB42 | ENSG00000188060.8 | transcript | ENST00000465518.3 | protein_coding | 1/2 | 47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
RAB44_chr6_36692826_36738184 | 36723993 | TGGGGCAG others(20): Show |
T | intron_variant | MODIFIER | NA19002.hp1 | a0021 | a0021c0030 | a0021c0030t0001 | a0021c0030t0001g0141 | 1 | 428 | 0.0023 | -27 | c.259 others(46): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 9/13 | chr6 | TogoVar | ||||||
RAB5C_chr17_42119979_42159989 | 42144925 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG03239.hp2 NA18998.hp2 NA19003.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(2): Show | 5 | 306 | 0.0163 | -27 | c.-89 others(44): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
RAB7B_chr1_205971740_206008395 | 205985755 | GCCCACCA others(20): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02922.hp1 HG02965.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0023 | a0001c0001t0001g0031a0001c0001t0001g0034a0001c0001t0001g0090others(6): Show | 9 | 330 | 0.0273 | -27 | c.397 others(41): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 4/5 | chr1 | TogoVar |