| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0019 | a0019c0034 | a0019c0034t0007 | a0019c0034t0007g0159 | 1 | 160 | 0.0063 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02922.hp2 HG02965.hp2 others(1): Show |
a0001a0014 | a0001c0016a0001c0020a0001c0046others(1): Show | a0001c0016t0045a0001c0020t0013a0001c0046t0057others(1): Show | a0001c0016t0045g0098a0001c0020t0013g0086a0001c0046t0057g0079others(1): Show | 4 | 160 | 0.0250 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0024a0001c0001t0029others(1): Show | a0001c0001t0011g0084a0001c0001t0024g0070a0001c0001t0029g0094others(1): Show | 4 | 160 | 0.0250 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp1 others(24): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0010others(8): Show | a0001c0001t0002a0001c0001t0041a0001c0001t0071others(17): Show | a0001c0001t0002g0049a0001c0001t0041g0022a0001c0001t0071g0047others(24): Show | 27 | 160 | 0.1688 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0008 | a0002c0008t0006 | a0002c0008t0006g0095 | 1 | 160 | 0.0063 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0029 | 1 | 160 | 0.0063 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01884.hp2 HG02055.hp1 others(11): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0001c0014others(4): Show | a0001c0001t0038a0001c0002t0001a0001c0014t0001others(8): Show | a0001c0001t0038g0107a0001c0002t0001g0124a0001c0014t0001g0055others(11): Show | 14 | 160 | 0.0875 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0013 | a0001c0013t0049 | a0001c0013t0049g0153 | 1 | 160 | 0.0063 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02109.hp1 HG02257.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0067a0001c0001t0087a0001c0004t0014others(4): Show | a0001c0001t0067g0013a0001c0001t0087g0087a0001c0004t0014g0077others(5): Show | 8 | 160 | 0.0500 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0051 | a0001c0051t0047 | a0001c0051t0047g0156 | 1 | 160 | 0.0063 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3797): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 | 1 | 40 | 0.0250 | 3804 | c.*14 others(3815): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3797): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0056 | 1 | 160 | 0.0063 | 3804 | c.225 others(3825): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3798): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 | 1 | 236 | 0.0042 | 3805 | c.294 others(3822): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
| HBA1_chr16_171680_182522 | 172005 | C | CAACCAGT others(3798): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 398 | 0.0050 | 3805 | c.-47 others(3816): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 4674 | chr16 | TogoVar | |||||||
| HBA2_chr16_167876_178710 | 172005 | C | CAACCAGT others(3798): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 386 | 0.0052 | 3805 | c.-90 others(3814): Show |
HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 870 | chr16 | TogoVar | |||||||
| HBA2_chr16_167876_178710 | 172240 | G | GTTCCTTC others(3798): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | 3805 | c.-67 others(3814): Show |
HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 635 | chr16 | TogoVar | |||||||
| SLC6A3_chr5_1387794_1450440 | 1414462 | G | GGAAGGCA others(3798): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0200 | 1 | 373 | 0.0027 | 3805 | c.115 others(3822): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
| HBA1_chr16_171680_182522 | 174399 | T | TGCTTCTG others(3799): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | 3806 | c.-23 others(3817): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 2280 | chr16 | TogoVar | |||||||
| HBA1_chr16_171680_182522 | 174399 | T | TGCTTCTG others(3799): Show |
upstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | 3806 | c.-23 others(3817): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 2280 | chr16 | TogoVar | |||||||
| HBA1_chr16_171680_182522 | 174399 | T | TGCTTCTG others(3799): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 3806 | c.-23 others(3817): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 2280 | chr16 | TogoVar | |||||||
| HBA2_chr16_167876_178710 | 174399 | T | TGCTTCTG others(3799): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 386 | 0.0052 | 3806 | c.*79 others(3815): Show |
HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 690 | chr16 | TogoVar | |||||||
| HBA2_chr16_167876_178710 | 174399 | T | TGCTTCTG others(3799): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | 3806 | c.*79 others(3815): Show |
HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 690 | chr16 | TogoVar | |||||||
| HBA2_chr16_167876_178710 | 174399 | T | TGCTTCTG others(3799): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | 3806 | c.*79 others(3815): Show |
HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 690 | chr16 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322753 | T | TACGGAAT others(3799): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0221 | 1 | 323 | 0.0031 | 3806 | c.-23 others(3817): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2216 | chr21 | TogoVar | |||||||
| MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3799): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0013 | a0013c0036 | a0013c0036t0003 | a0013c0036t0003g0221 | 1 | 330 | 0.0030 | 3806 | c.341 others(3825): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
| PIEZO1_chr16_88710338_88790220 | 88731933 | T | TGTGGGGA others(3799): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0003 | a0003c0083 | a0003c0083t0002 | a0003c0083t0002g0161 | 1 | 282 | 0.0036 | 3806 | c.299 others(3821): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
| TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(3799): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0005 | a0005c0004 | a0005c0004t0005 | a0005c0004t0005g0038 | 1 | 44 | 0.0227 | 3806 | c.296 others(3823): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137721200 | A | ACCCCCTC others(3800): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0082 | 1 | 170 | 0.0059 | 3807 | c.642 others(3824): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3800): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01071.hp2 others(1): Show |
a0001a0012a0024 | a0001c0005a0012c0027a0024c0050 | a0001c0005t0005a0012c0027t0004a0024c0050t0001 | a0001c0005t0005g0321a0012c0027t0004g0296a0012c0027t0004g0297others(1): Show | 4 | 330 | 0.0121 | 3807 | c.341 others(3826): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
| MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3800): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18964.hp1 NA18998.hp2 others(3): Show |
a0012a0013a0021 | a0012c0009a0013c0036a0013c0082others(1): Show | a0012c0009t0004a0012c0009t0014a0013c0036t0003others(2): Show | a0012c0009t0004g0269a0012c0009t0004g0273a0012c0009t0014g0330others(3): Show | 6 | 330 | 0.0182 | 3807 | c.341 others(3826): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
| MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3800): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03669.hp2 |
a0013a0024 | a0013c0087a0024c0050 | a0013c0087t0003a0024c0050t0001 | a0013c0087t0003g0245a0024c0050t0001g0056 | 2 | 330 | 0.0061 | 3807 | c.341 others(3826): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
| MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3800): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03579.hp2 |
a0002a0017 | a0002c0049a0017c0029 | a0002c0049t0001a0017c0029t0001 | a0002c0049t0001g0007a0017c0029t0001g0003a0017c0029t0001g0004 | 3 | 330 | 0.0091 | 3807 | c.341 others(3826): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
| SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(3800): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0152 | 1 | 376 | 0.0027 | 3807 | c.101 others(3824): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137721200 | A | ACCCCCTC others(3801): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0053 | 1 | 170 | 0.0059 | 3808 | c.642 others(3825): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3801): Show |
intron_variant | MODIFIER | NA18942.hp2 NA19000.hp2 |
a0012a0021 | a0012c0009a0021c0120 | a0012c0009t0004a0021c0120t0001 | a0012c0009t0004g0272a0021c0120t0001g0053 | 2 | 330 | 0.0061 | 3808 | c.341 others(3827): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
| MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3801): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0040 | a0040c0182 | a0040c0182t0001 | a0040c0182t0001g0016 | 1 | 330 | 0.0030 | 3808 | c.341 others(3827): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
| ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(3801): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 126 | 0.0079 | 3808 | c.-28 others(3827): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
| C2CD4C_chr19_400445_414147 | 410934 | C | CCTGCTGG others(3803): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0025 | 1 | 322 | 0.0031 | 3810 | c.-19 others(3821): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1788 | chr19 | TogoVar | |||||||
| C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(3803): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 342 | 0.0029 | 3810 | c.366 others(3827): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
| ENOX1_chr13_43208130_43791972 | 43495690 | T | TCCTTTCA others(3803): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01257.hp1 HG01261.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0018a0001c0001t0041others(1): Show | a0001c0001t0009g0039a0001c0001t0009g0101a0001c0001t0018g0103others(3): Show | 6 | 188 | 0.0319 | 3810 | c.-21 others(3831): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3803): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 251 | 0.0040 | 3810 | c.-45 others(3819): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3803): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 216 | 0.0046 | 3810 | c.-51 others(3829): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| ENOX1_chr13_43208130_43791972 | 43495690 | T | TCCTTTCA others(3804): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0030 | a0001c0001t0009g0032a0001c0001t0030g0150 | 2 | 188 | 0.0106 | 3811 | c.-21 others(3832): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
| ENOX1_chr13_43208130_43791972 | 43495690 | T | TCCTTTCA others(3804): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03195.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0014 | a0001c0001t0011g0165a0001c0001t0014g0110a0001c0001t0014g0117 | 3 | 188 | 0.0160 | 3811 | c.-21 others(3832): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
| DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(3805): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0007 | 1 | 40 | 0.0250 | 3812 | c.169 others(3829): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(3805): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0003 | 1 | 40 | 0.0250 | 3812 | c.169 others(3829): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| TSPAN3_chr15_77036404_77076109 | 77038273 | G | GGAGGGGA others(3805): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 3 | 0.3333 | 3812 | c.*85 others(3823): Show |
TSPAN3 | ENSG00000140391.15 | transcript | ENST00000267970.9 | protein_coding | 3130 | chr15 | TogoVar | |||||||
| EHMT1_chr9_137614005_137841127 | 137721200 | A | ACCCCCTC others(3806): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0052 | 1 | 170 | 0.0059 | 3813 | c.642 others(3830): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PAK2_chr3_196734857_196837647 | 196811268 | C | CCCTTCCT others(3806): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 178 | 0.0056 | 3813 | c.773 others(3828): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| CNOT3_chr19_54132762_54160681 | 54133770 | T | TCTTCCTC others(3808): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 223 | 0.0045 | 3815 | c.-42 others(3826): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3991 | chr19 | TogoVar |