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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
QKI_chr6_163409718_163583592 | 163451184 | TTAACACC others(5): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0242 | 1 | 302 | 0.0033 | -12 | c.143 others(29): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
QKI_chr6_163409718_163583592 | 163489424 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG03195.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020a0001c0001t0043 | a0001c0001t0012g0288a0001c0001t0020g0295a0001c0001t0043g0287 | 3 | 302 | 0.0099 | -12 | c.402 others(31): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QKI_chr6_163409718_163583592 | 163508504 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02486.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0041a0001c0001t0053others(4): Show | a0001c0001t0034g0039a0001c0001t0034g0069a0001c0001t0041g0126others(6): Show | 9 | 302 | 0.0298 | -12 | c.403 others(31): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QKI_chr6_163409718_163583592 | 163509139 | GTCAGTCA others(5): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0062a0001c0001t0018g0161 | 2 | 302 | 0.0066 | -12 | c.403 others(31): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QKI_chr6_163409718_163583592 | 163510217 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(6): Show | a0001c0001t0001g0222a0001c0001t0005g0191a0001c0001t0009g0070others(8): Show | 11 | 302 | 0.0364 | -12 | c.403 others(31): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QKI_chr6_163409718_163583592 | 163517092 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02451.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0046a0001c0001t0047others(2): Show | a0001c0001t0009g0042a0001c0001t0009g0043a0001c0001t0009g0045others(10): Show | 13 | 302 | 0.0431 | -12 | c.403 others(31): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QKI_chr6_163409718_163583592 | 163553062 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(31): Show | a0001c0001t0001g0067a0001c0001t0001g0071a0001c0001t0001g0105others(82): Show | 85 | 302 | 0.2815 | -12 | c.547 others(29): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QPCT_chr2_37339630_37378322 | 37377965 | GGTGTGTG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01109.hp2 others(19): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0122others(16): Show | 22 | 442 | 0.0498 | -12 | c.*51 others(23): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 4644 | chr2 | TogoVar | ||||||
QPRT_chr16_29674180_29703699 | 29676724 | AAGCTCAC others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(93): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(66): Show | 96 | 320 | 0.3000 | -12 | c.-24 others(23): Show |
QPRT | ENSG00000103485.19 | transcript | ENST00000395384.9 | protein_coding | 2455 | chr16 | TogoVar | ||||||
QPRT_chr16_29674180_29703699 | 29691364 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp1 NA19001.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0064a0002c0002t0002g0109 | 2 | 320 | 0.0063 | -12 | c.14- others(27): Show |
QPRT | ENSG00000103485.19 | transcript | ENST00000395384.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
QRFPR_chr4_121323642_121386018 | 121331622 | CATTATTA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG01884.hp2 others(20): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0014a0003c0004t0006a0003c0004t0021 | a0001c0001t0014g0168a0001c0001t0014g0172a0003c0004t0006g0337others(20): Show | 23 | 384 | 0.0599 | -12 | c.798 others(29): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 4/5 | chr4 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121359671 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | NA18941.hp2 NA18978.hp2 |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0339a0003c0004t0006g0340 | 2 | 384 | 0.0052 | -12 | c.341 others(31): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121380186 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG00738.hp2 others(28): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0002g0249a0001c0001t0002g0250a0001c0001t0002g0251others(24): Show | 31 | 384 | 0.0807 | -12 | c.340 others(27): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121384523 | CTTCTCTA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 HG03098.hp1 HG03195.hp2 others(1): Show |
a0006 | a0006c0008 | a0006c0008t0013 | a0006c0008t0013g0005a0006c0008t0013g0031a0006c0008t0013g0036 | 4 | 384 | 0.0104 | -12 | c.-38 others(23): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 3506 | chr4 | TogoVar | ||||||
QRICH1_chr3_49024707_49099071 | 49096798 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 226 | 0.0044 | -12 | c.-29 others(23): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 2728 | chr3 | TogoVar | ||||||
QRSL1_chr6_106624578_106673417 | 106624946 | AAAAAAGA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp2 HG02055.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0097a0002c0003t0001g0289 | 2 | 422 | 0.0047 | -12 | c.-47 others(23): Show |
QRSL1 | ENSG00000130348.11 | transcript | ENST00000369046.8 | protein_coding | 4631 | chr6 | TogoVar | ||||||
QRSL1_chr6_106624578_106673417 | 106627743 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 422 | 0.0024 | -12 | c.-19 others(23): Show |
QRSL1 | ENSG00000130348.11 | transcript | ENST00000369046.8 | protein_coding | 1834 | chr6 | TogoVar | ||||||
QRSL1_chr6_106624578_106673417 | 106647027 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01192.hp2 others(30): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002a0002c0003t0009others(1): Show | a0002c0003t0001g0010a0002c0003t0001g0056a0002c0003t0001g0057others(23): Show | 33 | 422 | 0.0782 | -12 | c.381 others(29): Show |
QRSL1 | ENSG00000130348.11 | transcript | ENST00000369046.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QRSL1_chr6_106624578_106673417 | 106671530 | TCAAACAA others(5): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 422 | 0.0024 | -12 | c.*55 others(23): Show |
QRSL1 | ENSG00000130348.11 | transcript | ENST00000369046.8 | protein_coding | 3114 | chr6 | TogoVar | ||||||
QSER1_chr11_32887811_32985270 | 32898482 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02040.hp1 HG02145.hp1 others(18): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0170others(18): Show | 21 | 236 | 0.0890 | -12 | c.209 others(29): Show |
QSER1 | ENSG00000060749.17 | transcript | ENST00000650167.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
QSER1_chr11_32887811_32985270 | 32925494 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01167.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0007a0001c0002t0018others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0040a0001c0001t0001g0042others(22): Show | 25 | 236 | 0.1059 | -12 | c.210 others(29): Show |
QSER1 | ENSG00000060749.17 | transcript | ENST00000650167.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
QSOX1_chr1_180149869_180209030 | 180208932 | CAGGCTGG others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 388 | 0.0026 | -12 | c.*11 others(25): Show |
QSOX1 | ENSG00000116260.17 | transcript | ENST00000367602.8 | protein_coding | 4903 | chr1 | TogoVar | ||||||
QSOX2_chr9_136201333_136250812 | 136207359 | TCTCATAC others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0333 | 1 | 392 | 0.0026 | -12 | c.*13 others(23): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 12/12 | 1357 | chr9 | TogoVar | |||||
QTRT1_chr19_10696439_10718365 | 10702759 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 2 | 404 | 0.0050 | -12 | c.451 others(27): Show |
QTRT1 | ENSG00000213339.9 | transcript | ENST00000250237.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
QTRT2_chr3_114051737_114093422 | 114060496 | GTAGATAG others(5): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG01884.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0170others(14): Show | 21 | 430 | 0.0488 | -12 | c.-22 others(29): Show |
QTRT2 | ENSG00000151576.10 | transcript | ENST00000281273.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
QTRT2_chr3_114051737_114093422 | 114082204 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp2 HG01192.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0046a0001c0001t0002g0299a0001c0001t0002g0313others(4): Show | 8 | 430 | 0.0186 | -12 | c.899 others(27): Show |
QTRT2 | ENSG00000151576.10 | transcript | ENST00000281273.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
QTRT2_chr3_114051737_114093422 | 114083290 | TTGTTGTT others(5): Show |
T | intron_variant | MODIFIER | HG03453.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0143a0001c0001t0012g0144 | 2 | 430 | 0.0047 | -12 | c.101 others(29): Show |
QTRT2 | ENSG00000151576.10 | transcript | ENST00000281273.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
QTRT2_chr3_114051737_114093422 | 114083314 | CTGTTGTT others(5): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG03130.hp2 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0242a0002c0002t0007g0281 | 2 | 430 | 0.0047 | -12 | c.101 others(29): Show |
QTRT2 | ENSG00000151576.10 | transcript | ENST00000281273.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
R3HCC1_chr8_23283108_23301279 | 23293063 | TTCTAGAA others(5): Show |
T | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 472 | 0.0021 | -12 | c.102 others(29): Show |
R3HCC1 | ENSG00000104679.12 | transcript | ENST00000265806.12 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
R3HDM1_chr2_135526484_135730269 | 135565322 | AATTATTA others(5): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 232 | 0.0043 | -12 | c.-25 others(33): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
R3HDM1_chr2_135526484_135730269 | 135571989 | GCACCACG others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 133 | 232 | 0.5733 | -12 | c.-24 others(33): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
R3HDM1_chr2_135526484_135730269 | 135626181 | TTGCGTGC others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02055.hp2 HG02145.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108a0002c0002t0001g0143a0002c0002t0001g0144others(2): Show | 5 | 232 | 0.0216 | -12 | c.497 others(29): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
R3HDM1_chr2_135526484_135730269 | 135626205 | GTGCGTGC others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
a0001a0009a0010others(1): Show | a0001c0001a0009c0009a0010c0012others(1): Show | a0001c0001t0001a0009c0009t0001a0010c0012t0001others(1): Show | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214others(17): Show | 20 | 232 | 0.0862 | -12 | c.497 others(29): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
R3HDM1_chr2_135526484_135730269 | 135654458 | TTGTTGTT others(5): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 232 | 0.0043 | -12 | c.202 others(31): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135698980 | CAGATAGA others(5): Show |
C | intron_variant | MODIFIER | HG01928.hp2 HG02145.hp2 HG02258.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0052a0001c0001t0001g0083others(10): Show | 13 | 232 | 0.0560 | -12 | c.246 others(33): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
R3HDM1_chr2_135526484_135730269 | 135699036 | TAGATAGA others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213a0001c0001t0001g0221a0001c0001t0001g0222others(2): Show | 5 | 232 | 0.0216 | -12 | c.246 others(33): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135706362 | GTTTTGTT others(5): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG02055.hp2 HG02145.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0056a0002c0002t0001g0058a0002c0002t0001g0108others(4): Show | 7 | 232 | 0.0302 | -12 | c.246 others(31): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
R3HDM1_chr2_135526484_135730269 | 135727442 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02257.hp2 HG03209.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0017a0001c0001t0001g0067a0001c0001t0001g0081others(2): Show | 5 | 232 | 0.0216 | -12 | c.*31 others(23): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2174 | chr2 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57250389 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 336 | 0.0030 | -12 | c.*43 others(23): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 3374 | chr12 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57258310 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01169.hp2 HG01496.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0002c0003t0002 | a0001c0001t0001g0187a0001c0001t0006g0335a0001c0001t0006g0336others(15): Show | 18 | 336 | 0.0536 | -12 | c.230 others(29): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 20/23 | chr12 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57320261 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0028 | 1 | 336 | 0.0030 | -12 | c.-35 others(29): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57332410 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 336 | 0.0030 | -12 | c.-35 others(31): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57345500 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00738.hp1 others(53): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0004g0157a0001c0002t0001g0003a0001c0002t0001g0121others(53): Show | 56 | 336 | 0.1667 | -12 | c.-35 others(31): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57357114 | GAATAAAT others(5): Show |
G | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 336 | 0.0030 | -12 | c.-36 others(31): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57424114 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0011 | a0001c0001t0004a0001c0005t0004a0001c0005t0008others(1): Show | a0001c0001t0004g0157a0001c0005t0004g0142a0001c0005t0004g0143others(3): Show | 6 | 336 | 0.0179 | -12 | c.-10 others(31): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 1/23 | chr12 | TogoVar | ||||||
R3HDML_chr20_44332043_44356238 | 44334829 | AACACACA others(5): Show |
A | upstream_gene_variant | MODIFIER | NA18943.hp1 NA19003.hp2 NA19060.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0036others(1): Show | 4 | 434 | 0.0092 | -12 | c.-23 others(23): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 2213 | chr20 | TogoVar | ||||||
R3HDML_chr20_44332043_44356238 | 44339062 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | NA18747.hp2 NA18945.hp1 NA18987.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050a0001c0004t0001g0198a0001c0004t0001g0199others(1): Show | 5 | 434 | 0.0115 | -12 | c.261 others(29): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
R3HDML_chr20_44332043_44356238 | 44354144 | GTTATTTA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0189a0001c0004t0001g0060 | 2 | 434 | 0.0046 | -12 | c.*33 others(23): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 2907 | chr20 | TogoVar | ||||||
RAB10_chr2_26029084_26142454 | 26039015 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 212 | 0.0047 | -12 | c.127 others(29): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAB10_chr2_26029084_26142454 | 26074185 | ATGGTATG others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(42): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(3): Show | a0001c0001t0003g0027a0001c0001t0003g0029a0001c0001t0003g0030others(42): Show | 45 | 212 | 0.2123 | -12 | c.128 others(31): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1/5 | chr2 | TogoVar |