| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADAMTS14_chr10_70667506_70767441 | 70687429 | ACTCCCAG others(169): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(46): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0007a0001c0018others(26): Show | a0001c0002t0034a0001c0007t0037a0001c0018t0016others(32): Show | a0001c0002t0034g0216a0001c0007t0037g0029a0001c0018t0016g0023others(46): Show | 49 | 354 | 0.1384 | -176 | c.522 others(19): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ADGRB1_chr8_142444649_142550007 | 142500227 | GCTCCTCC others(169): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0155 | 1 | 310 | 0.0032 | -176 | c.267 others(19): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADGRD1_chr12_130948907_131146469 | 130996824 | GGGCGGGG others(169): Show |
G | intron_variant | MODIFIER | HG02895.hp1 NA20129.hp1 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0008 | a0001c0005t0001g0112a0001c0005t0008g0226 | 2 | 242 | 0.0083 | -176 | c.967 others(17): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ADGRD1_chr12_130948907_131146469 | 131127824 | TGTTGGTT others(169): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01071.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0027a0001c0002t0001a0001c0002t0008others(10): Show | a0001c0001t0027g0118a0001c0002t0001g0125a0001c0002t0008g0016others(18): Show | 21 | 242 | 0.0868 | -176 | c.217 others(19): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ADGRD1_chr12_130948907_131146469 | 131127841 | TTCTGAGC others(169): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG02723.hp2 others(3): Show |
a0001a0010 | a0001c0001a0001c0003a0010c0026 | a0001c0001t0002a0001c0003t0006a0001c0003t0035others(2): Show | a0001c0001t0002g0228a0001c0001t0002g0235a0001c0003t0006g0092others(3): Show | 6 | 242 | 0.0248 | -176 | c.217 others(19): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ADGRD1_chr12_130948907_131146469 | 131127886 | CCTGAGCT others(169): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01934.hp1 HG02109.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0010others(7): Show | a0001c0001t0002a0001c0003t0029a0001c0010t0007others(7): Show | a0001c0001t0002g0116a0001c0003t0029g0214a0001c0010t0007g0160others(10): Show | 13 | 242 | 0.0537 | -176 | c.217 others(19): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| AHI1_chr6_135278532_135502740 | 135363801 | GGCCGGGC others(169): Show |
G | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 220 | 0.0046 | -176 | c.311 others(19): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 344490 | CTGTGTGT others(169): Show |
C | intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0095 | 1 | 268 | 0.0037 | -176 | c.62+ others(13): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 345034 | ATGTGTGT others(169): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02145.hp1 others(13): Show |
a0004a0006a0007 | a0004c0003a0006c0006a0007c0007 | a0004c0003t0007a0004c0003t0009a0004c0003t0010others(6): Show | a0004c0003t0007g0230a0004c0003t0007g0237a0004c0003t0007g0246others(13): Show | 16 | 268 | 0.0597 | -176 | c.62+ others(15): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AMFR_chr16_56356452_56430545 | 56397703 | AATCATTT others(169): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG02976.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0027 | a0001c0001t0003g0245a0001c0001t0003g0247a0001c0001t0027g0320 | 3 | 356 | 0.0084 | -176 | c.108 others(19): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 8/13 | chr16 | TogoVar | ||||||
| ANO1_chr11_70073317_70194530 | 70194348 | ATGGATGG others(169): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01074.hp1 others(23): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0002g0235others(23): Show | 26 | 302 | 0.0861 | -176 | c.*63 others(11): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 4819 | chr11 | TogoVar | ||||||
| AP3S2_chr15_89825599_89898994 | 89868198 | CGTCCGGG others(169): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0185 | 1 | 312 | 0.0032 | -176 | c.345 others(17): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1888909 | TGTGAGGA others(169): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0003 | a0003c0051 | a0003c0051t0006 | a0003c0051t0006g0319 | 1 | 363 | 0.0028 | -176 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| BLOC1S2_chr10_100268293_100291680 | 100277817 | CGTCCGGG others(169): Show |
C | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 378 | 0.0027 | -176 | c.397 others(17): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
| C2CD4C_chr19_400445_414147 | 400557 | CCCCAGGC others(169): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0090a0001c0001t0112others(2): Show | a0001c0001t0041g0034a0001c0001t0090g0049a0001c0001t0112g0092others(2): Show | 5 | 322 | 0.0155 | -176 | c.*63 others(11): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 4887 | chr19 | TogoVar | ||||||
| C2_chr6_31922717_31950672 | 31931918 | CGGCGCGG others(169): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG02896.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0191a0001c0002t0001g0199 | 2 | 395 | 0.0051 | -176 | c.443 others(17): Show |
C2 | ENSG00000166278.16 | transcript | ENST00000299367.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CAMK1D_chr10_12344547_12840545 | 12401141 | ATATATAT others(169): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0162 | 1 | 214 | 0.0047 | -176 | c.92+ others(17): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CAPZA1_chr1_112614832_112676616 | 112640156 | ACCCGGCC others(169): Show |
A | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0315 | 1 | 368 | 0.0027 | -176 | c.40- others(15): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CFAP46_chr10_132803392_132947570 | 132902864 | ACTCACCC others(169): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG02280.hp2 HG02630.hp1 others(2): Show |
a0012a0067a0072 | a0012c0025a0012c0076a0067c0069others(1): Show | a0012c0025t0002a0012c0076t0001a0067c0069t0002others(1): Show | a0012c0025t0002g0007a0012c0025t0002g0014a0012c0076t0001g0131others(2): Show | 5 | 246 | 0.0203 | -176 | c.292 others(19): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 22/57 | chr10 | TogoVar | ||||||
| CFAP58_chr10_104348833_104460102 | 104357960 | TATATGTA others(169): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004 | 2 | 308 | 0.0065 | -176 | c.10- others(13): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CFAP74_chr1_1916957_2008786 | 1981431 | CCAGCCGC others(169): Show |
C | intron_variant | MODIFIER | HG02040.hp2 HG02080.hp1 HG02109.hp2 others(15): Show |
a0002a0003a0009others(7): Show | a0002c0004a0002c0074a0003c0015others(8): Show | a0002c0004t0002a0002c0074t0002a0003c0015t0001others(9): Show | a0002c0004t0002g0031a0002c0004t0002g0032a0002c0004t0002g0070others(15): Show | 18 | 278 | 0.0648 | -176 | c.500 others(17): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 6/38 | chr1 | TogoVar | ||||||
| CHCHD3_chr7_132779870_133087090 | 132985107 | ATCCGGGA others(169): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 310 | 0.0032 | -176 | c.252 others(17): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
| CLK2_chr1_155257868_155278504 | 155275281 | TTGCACTC others(169): Show |
T | upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 331 | 0.0030 | -176 | c.-22 others(11): Show |
CLK2 | ENSG00000176444.19 | transcript | ENST00000368361.9 | protein_coding | 1778 | chr1 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1033898 | GACGGTGT others(169): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01516.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0144a0001c0001t0001g0194 | 3 | 390 | 0.0077 | -176 | c.390 others(17): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CPNE7_chr16_89570758_89602246 | 89587748 | CCGTGTCA others(169): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0116 | 1 | 348 | 0.0029 | -176 | c.927 others(15): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CRLF3_chr17_30777684_30829692 | 30782082 | CAAAGTGA others(169): Show |
C | downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 324 | 0.0031 | -176 | c.*19 others(11): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 601 | chr17 | TogoVar | ||||||
| CRLF3_chr17_30777684_30829692 | 30786702 | ATCTATCT others(169): Show |
A | intron_variant | MODIFIER | NA19002.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239a0001c0001t0001g0240 | 2 | 324 | 0.0062 | -176 | c.960 others(15): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
| CSNK1G2_chr19_1936172_1986338 | 1968077 | GCTCCTCC others(169): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00673.hp2 others(25): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0010 | a0001c0001t0001a0001c0001t0023a0001c0002t0002others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0046a0001c0001t0001g0162others(25): Show | 28 | 382 | 0.0733 | -176 | c.-26 others(19): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CTNNBL1_chr20_37689030_37877118 | 37718148 | TGGGCAGA others(169): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG02258.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0223a0001c0001t0001g0224 | 5 | 266 | 0.0188 | -176 | c.31- others(17): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CTNNBL1_chr20_37689030_37877118 | 37718196 | GCCCCTCA others(169): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(3): Show | 6 | 266 | 0.0226 | -176 | c.31- others(17): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CTSS_chr1_150725188_150770778 | 150728630 | CGACCCCC others(169): Show |
C | downstream_gene_variant | MODIFIER | HG01515.hp2 HG02015.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0247a0001c0001t0003g0249 | 2 | 344 | 0.0058 | -176 | c.*42 others(11): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 1557 | chr1 | TogoVar | ||||||
| CYP4F12_chr19_15668087_15702174 | 15673951 | CCACTCAC others(169): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG00741.hp2 others(66): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(7): Show | a0001c0001t0001g0129a0001c0001t0003g0160a0001c0001t0003g0167others(51): Show | 69 | 410 | 0.1683 | -176 | c.198 others(15): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CYP4F12_chr19_15668087_15702174 | 15676627 | TCACTTAC others(169): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG03704.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0175a0003c0003t0002g0178 | 2 | 410 | 0.0049 | -176 | c.199 others(17): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DCAKD_chr17_45018344_45056632 | 45051827 | GCGGGGCC others(169): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp2 others(25): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0019a0001c0001t0068others(2): Show | a0001c0001t0003g0003a0001c0001t0003g0331a0001c0001t0003g0333others(20): Show | 28 | 408 | 0.0686 | -176 | c.-75 others(9): Show |
DCAKD | ENSG00000172992.13 | transcript | ENST00000651974.1 | protein_coding | 196 | chr17 | TogoVar | ||||||
| DCAKD_chr17_45018344_45056632 | 45051896 | GGAGAGGT others(169): Show |
G | upstream_gene_variant | MODIFIER | NA18947.hp1 NA19000.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0042 | a0001c0001t0009g0017a0001c0001t0042g0358a0001c0001t0042g0359 | 3 | 408 | 0.0074 | -176 | c.-82 others(9): Show |
DCAKD | ENSG00000172992.13 | transcript | ENST00000651974.1 | protein_coding | 265 | chr17 | TogoVar | ||||||
| DCBLD2_chr3_98790941_98906695 | 98837542 | TGGGGCAG others(169): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(110): Show |
a0001a0006a0008others(2): Show | a0001c0001a0001c0002a0006c0022others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0021others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0153a0001c0001t0001g0154others(109): Show | 113 | 330 | 0.3424 | -176 | c.571 others(19): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
| DCDC2C_chr2_3698575_3853008 | 3725401 | GGCAGAGA others(169): Show |
G | intron_variant | MODIFIER | HG03225.hp2 NA18945.hp1 NA18948.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0025a0002c0004t0001 | a0001c0002t0001g0123a0001c0002t0025g0164a0002c0004t0001g0001 | 4 | 324 | 0.0124 | -176 | c.340 others(17): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DDX51_chr12_132131594_132149319 | 132134791 | CCCGAGTG others(169): Show |
C | downstream_gene_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0005 | 1 | 334 | 0.0030 | -176 | c.*43 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1802 | chr12 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132148890 | ACCTCGGT others(169): Show |
A | upstream_gene_variant | MODIFIER | HG02723.hp1 HG03139.hp2 |
a0001a0012 | a0001c0001a0012c0015 | a0001c0001t0001a0012c0015t0017 | a0001c0001t0001g0001a0012c0015t0017g0031 | 2 | 334 | 0.0060 | -176 | c.-47 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4572 | chr12 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132148917 | ACACCACA others(169): Show |
A | upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 334 | 0.0030 | -176 | c.-47 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4599 | chr12 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132148918 | CACCACAC others(169): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 334 | 0.0060 | -176 | c.-47 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4600 | chr12 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2276813 | CAAAGAGA others(169): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG03491.hp2 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0003a0002c0005t0008others(1): Show | a0001c0001t0001g0049a0002c0002t0003g0002a0002c0005t0008g0010others(1): Show | 4 | 50 | 0.0800 | -176 | c.389 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2278457 | AGAGGGAG others(169): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0007 | a0007c0009 | a0007c0009t0013 | a0007c0009t0013g0005 | 1 | 50 | 0.0200 | -176 | c.389 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 608317 | ACACACAG others(169): Show |
A | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 88 | 0.0114 | -176 | c.85+ others(17): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713405 | TCACCTCC others(169): Show |
T | downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 412 | 0.0024 | -176 | c.*36 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1161 | chr19 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713448 | ACCACCTC others(169): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0026a0001c0001t0016g0074 | 2 | 412 | 0.0049 | -176 | c.*35 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1118 | chr19 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713782 | CCCTCACT others(169): Show |
C | downstream_gene_variant | MODIFIER | HG04199.hp2 NA19085.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 2 | 412 | 0.0049 | -176 | c.*32 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 784 | chr19 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2714119 | CACCCTTC others(169): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp1 HG03579.hp2 NA19089.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0054a0001c0002t0001 | a0001c0001t0005g0052a0001c0001t0054g0109a0001c0002t0001g0002 | 3 | 412 | 0.0073 | -176 | c.*29 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 447 | chr19 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2714216 | CCCCATCC others(169): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011 | 1 | 412 | 0.0024 | -176 | c.*28 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 350 | chr19 | TogoVar | ||||||
| DNAAF6_chrX_107201611_107249247 | 107204693 | TTTATTTA others(169): Show |
T | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 296 | 0.0034 | -176 | c.-20 others(11): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1917 | chrX | TogoVar |