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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2011): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0137 | 1 | 22 | 0.0455 | 2018 | c.-90 others(2033): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2011): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0110 | 1 | 22 | 0.0455 | 2018 | c.-90 others(2033): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(2011): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 86 | 0.0116 | 2018 | c.269 others(2037): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2011): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01361.hp2 HG01516.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0122 a0001c0001t0002g0121 a0001c0001t0006g0006 others(9): Show |
17 | 24 | 0.7083 | 2018 | c.-23 others(2035): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2011): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 8 | 0.1250 | 2018 | c.-23 others(2035): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2011): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG00741.hp2 others(45): Show |
a0001 | a0001c0001a0001c0006a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0003g0010 others(25): Show |
48 | 55 | 0.8727 | 2018 | c.-23 others(2035): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2011): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0190 | 1 | 8 | 0.1250 | 2018 | c.-23 others(2035): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2011): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0169 | 1 | 4 | 0.2500 | 2018 | c.972 others(2031): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MOGAT2_chr11_75712838_75737953 | 75731453 | A | ACTCTGGC others(2011): Show |
3_prime_UTR_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0005 | a0002c0005t0030 | a0002c0005t0030g0198 | 1 | 363 | 0.0028 | 2018 | c.*16 others(2027): Show |
MOGAT2 | ENSG00000166391.15 | transcript | ENST00000198801.10 | protein_coding | 6/6 | 169 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(2011): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 5 | 0.2000 | 2018 | c.189 others(2037): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
YEATS2_chr3_183692797_183817624 | 183715278 | T | TAGGAAAT others(2011): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0011 | a0011c0030 | a0011c0030t0002 | a0011c0030t0002g0062 | 1 | 304 | 0.0033 | 2018 | c.100 others(2031): Show |
YEATS2 | ENSG00000163872.16 | transcript | ENST00000305135.10 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(2012): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0138 | 1 | 30 | 0.0333 | 2019 | c.505 others(2038): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(2012): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0014 | 1 | 223 | 0.0045 | 2019 | c.*36 others(2030): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333054 | G | GGATGAGG others(2012): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0048 |
2 | 368 | 0.0054 | 2019 | c.892 others(2036): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2012): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0251 | 1 | 2 | 0.5000 | 2019 | c.126 others(2036): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252905 | C | CCATCACC others(2012): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0316 | 1 | 305 | 0.0033 | 2019 | c.666 others(2036): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MOGAT2_chr11_75712838_75737953 | 75731453 | A | ACTCTGGC others(2012): Show |
3_prime_UTR_variant | MODIFIER | NA19030.hp2 | a0005 | a0005c0007 | a0005c0007t0023 | a0005c0007t0023g0068 | 1 | 363 | 0.0028 | 2019 | c.*16 others(2028): Show |
MOGAT2 | ENSG00000166391.15 | transcript | ENST00000198801.10 | protein_coding | 6/6 | 169 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MOGAT2_chr11_75712838_75737953 | 75731453 | A | ACTCTGGC others(2012): Show |
3_prime_UTR_variant | MODIFIER | HG03540.hp2 NA19087.hp1 |
a0002a0009 | a0002c0005a0009c0011 | a0002c0005t0031a0009c0011t0029 | a0002c0005t0031g0054 a0009c0011t0029g0119 |
2 | 364 | 0.0055 | 2019 | c.*16 others(2028): Show |
MOGAT2 | ENSG00000166391.15 | transcript | ENST00000198801.10 | protein_coding | 6/6 | 169 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MOGAT2_chr11_75712838_75737953 | 75731453 | A | ACTCTGGC others(2012): Show |
3_prime_UTR_variant | MODIFIER | NA18946.hp1 NA18947.hp1 NA18951.hp1 others(5): Show |
a0001a0002 | a0001c0006a0002c0005 | a0001c0006t0004a0002c0005t0004a0002c0005t0032 | a0001c0006t0004g0106 a0001c0006t0004g0107 a0002c0005t0004g0025 others(3): Show |
8 | 370 | 0.0216 | 2019 | c.*16 others(2028): Show |
MOGAT2 | ENSG00000166391.15 | transcript | ENST00000198801.10 | protein_coding | 6/6 | 169 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MOGAT2_chr11_75712838_75737953 | 75731453 | A | ACTCTGGC others(2012): Show |
3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG02615.hp2 others(8): Show |
a0001a0002a0003 | a0001c0012a0002c0002a0002c0017others(1): Show | a0001c0012t0002a0002c0002t0002a0002c0017t0002others(1): Show | a0001c0012t0002g0079 a0002c0002t0002g0008 a0002c0002t0002g0164 others(3): Show |
11 | 373 | 0.0295 | 2019 | c.*16 others(2028): Show |
MOGAT2 | ENSG00000166391.15 | transcript | ENST00000198801.10 | protein_coding | 6/6 | 169 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MOGAT2_chr11_75712838_75737953 | 75731453 | A | ACTCTGGC others(2012): Show |
3_prime_UTR_variant | MODIFIER | HG02630.hp2 | a0006 | a0006c0019 | a0006c0019t0027 | a0006c0019t0027g0008 | 1 | 363 | 0.0028 | 2019 | c.*16 others(2028): Show |
MOGAT2 | ENSG00000166391.15 | transcript | ENST00000198801.10 | protein_coding | 6/6 | 169 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MOGAT2_chr11_75712838_75737953 | 75731453 | A | ACTCTGGC others(2012): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02723.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0028 a0001c0001t0003g0066 a0001c0001t0003g0081 others(4): Show |
8 | 370 | 0.0216 | 2019 | c.*16 others(2028): Show |
MOGAT2 | ENSG00000166391.15 | transcript | ENST00000198801.10 | protein_coding | 6/6 | 169 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDGFA_chr7_492258_524846 | 494554 | G | GAATCCGT others(2012): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129 | 1 | 300 | 0.0033 | 2019 | c.*40 others(2030): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2703 | chr7 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2012): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 35 | 0.0286 | 2019 | c.-28 others(2038): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2013): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0025 | a0025c0020 | a0025c0020t0002 | a0025c0020t0002g0020 | 1 | 13 | 0.0769 | 2020 | c.354 others(2039): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2013): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0009 | a0003c0009t0002 | a0003c0009t0002g0105 | 1 | 22 | 0.0455 | 2020 | c.-90 others(2035): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2013): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049 a0001c0001t0002g0050 |
2 | 23 | 0.0870 | 2020 | c.-90 others(2035): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2013): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 | 1 | 7 | 0.1429 | 2020 | c.*16 others(2031): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911541 | C | CTGTCCTG others(2013): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0050 | 1 | 127 | 0.0079 | 2020 | c.101 others(2039): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2013): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 7 | 0.1429 | 2020 | c.*22 others(2031): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(2013): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0341 | 1 | 162 | 0.0062 | 2020 | c.-19 others(2031): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2013): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 | 1 | 8 | 0.1250 | 2020 | c.-20 others(2031): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(2013): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG03540.hp1 others(1): Show |
a0001a0004 | a0001c0002a0004c0018 | a0001c0002t0001a0004c0018t0001 | a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 others(1): Show |
4 | 97 | 0.0412 | 2020 | c.206 others(2039): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(2014): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG03098.hp1 others(1): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0005a0004c0007others(1): Show | a0001c0001t0004a0003c0005t0007a0004c0007t0014others(1): Show | a0001c0001t0004g0080 a0003c0005t0007g0040 a0004c0007t0014g0113 others(1): Show |
4 | 128 | 0.0313 | 2021 | c.489 others(2040): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(2014): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(50): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0008others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0082 others(50): Show |
53 | 177 | 0.2994 | 2021 | c.489 others(2040): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(2014): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0108 a0001c0001t0015g0045 a0001c0001t0015g0046 |
3 | 127 | 0.0236 | 2021 | c.489 others(2040): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(2014): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01952.hp1 HG02523.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0073 others(1): Show |
4 | 128 | 0.0313 | 2021 | c.489 others(2040): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(2014): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 HG02723.hp1 others(2): Show |
a0003a0017a0021others(2): Show | a0003c0043a0017c0041a0021c0051others(2): Show | a0003c0043t0010a0017c0041t0001a0021c0051t0006others(2): Show | a0003c0043t0010g0042 a0017c0041t0001g0214 a0021c0051t0006g0172 others(2): Show |
5 | 129 | 0.0388 | 2021 | c.489 others(2040): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(2014): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02818.hp2 |
a0002a0010a0020 | a0002c0002a0010c0055a0020c0030 | a0002c0002t0001a0010c0055t0001a0020c0030t0012 | a0002c0002t0001g0044 a0010c0055t0001g0176 a0020c0030t0012g0200 |
3 | 127 | 0.0236 | 2021 | c.489 others(2040): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827171 | A | ACCACAAC others(2014): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03579.hp2 |
a0002a0010 | a0002c0002a0010c0052 | a0002c0002t0002a0010c0052t0027 | a0002c0002t0002g0212 a0010c0052t0027g0224 |
2 | 126 | 0.0159 | 2021 | c.489 others(2040): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2014): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0065 | 1 | 22 | 0.0455 | 2021 | c.-90 others(2036): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2014): Show |
intron_variant | MODIFIER | HG01167.hp1 NA18975.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0112 a0001c0002t0004g0111 |
2 | 23 | 0.0870 | 2021 | c.-90 others(2036): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274593 | G | GGGCTGAC others(2014): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 157 | 0.0064 | 2021 | c.-90 others(2036): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811204 | T | TTCCCTCC others(2014): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0021 | 1 | 169 | 0.0059 | 2021 | c.773 others(2036): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344647 | A | AGGGGACT others(2014): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192 | 1 | 333 | 0.0030 | 2021 | c.4-1 others(2034): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344746 | T | TGTGAGAG others(2014): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0206 |
3 | 27 | 0.1111 | 2021 | c.4-1 others(2034): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2014): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 34 | 0.0294 | 2021 | c.299 others(2036): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731928 | C | CGGGGTGT others(2014): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0032 | a0032c0151 | a0032c0151t0001 | a0032c0151t0001g0156 | 1 | 265 | 0.0038 | 2021 | c.299 others(2036): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(2014): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0208 | 1 | 126 | 0.0079 | 2021 | c.45- others(2036): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2014): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 218 | 0.0046 | 2021 | c.*44 others(2032): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar |