| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SLC37A1_chr21_42508852_42586426 | 42570081 | CGACACAC others(151): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291 | 1 | 356 | 0.0028 | -158 | c.142 others(19): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| SLC6A19_chr5_1196595_1230111 | 1197359 | GGGTACTG others(151): Show |
G | upstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0079 | 1 | 458 | 0.0022 | -158 | c.-42 others(11): Show |
SLC6A19 | ENSG00000174358.16 | transcript | ENST00000304460.11 | protein_coding | 4235 | chr5 | TogoVar | ||||||
| SLC7A1_chr13_29504414_29600688 | 29558629 | ATGAGGGG others(151): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG03654.hp1 HG04228.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0018a0001c0002t0007g0020a0001c0002t0007g0035 | 3 | 330 | 0.0091 | -158 | c.-11 others(19): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
| SLC7A1_chr13_29504414_29600688 | 29558952 | GGCAGAGT others(151): Show |
G | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0174 | 1 | 330 | 0.0030 | -158 | c.-11 others(19): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
| SLMAP_chr3_57751309_57935003 | 57934387 | CAGTCATG others(151): Show |
C | downstream_gene_variant | MODIFIER | HG03834.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091a0001c0001t0004g0107 | 2 | 310 | 0.0065 | -158 | c.*70 others(11): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 4385 | chr3 | TogoVar | ||||||
| SNAP47_chr1_227730435_227786226 | 227767445 | CACATTGT others(151): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0108 | 1 | 396 | 0.0025 | -158 | c.111 others(17): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
| SORCS3_chr10_104636290_105270242 | 105091305 | TTCCTTCC others(151): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01081.hp1 others(31): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0026a0001c0001t0001g0032others(31): Show | 34 | 134 | 0.2537 | -158 | c.109 others(19): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| SPSB4_chr3_141046347_141153611 | 141062834 | AGAACATG others(151): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0052 | a0001c0002t0008g0223a0001c0002t0008g0224a0001c0002t0008g0226others(4): Show | 7 | 254 | 0.0276 | -158 | c.-15 others(19): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SRBD1_chr2_45383680_45616267 | 45414931 | ACAGTGTT others(151): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02895.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0193a0001c0001t0001g0203others(4): Show | 7 | 358 | 0.0196 | -158 | c.233 others(19): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | ||||||
| STAB2_chr12_103582273_103771719 | 103734372 | CGATCATA others(151): Show |
C | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0093 | a0001c0093t0001 | a0001c0093t0001g0227 | 1 | 256 | 0.0039 | -158 | c.546 others(18): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 51/68 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| STK32C_chr10_132202492_132312950 | 132267656 | TGTGTGTG others(151): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0003 | a0001c0001t0001g0352a0001c0001t0011g0029a0001c0002t0003g0343 | 3 | 368 | 0.0082 | -158 | c.263 others(19): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
| SYNGR4_chr19_48359367_48381377 | 48365189 | GCCTGGGA others(151): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp2 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0079a0007c0008t0001g0054 | 2 | 430 | 0.0047 | -158 | c.-10 others(17): Show |
SYNGR4 | ENSG00000105467.9 | transcript | ENST00000344846.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TACR3_chr4_103581031_103724985 | 103650820 | TATAATAA others(151): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(70): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0020a0001c0001t0001g0103a0001c0001t0002g0186others(70): Show | 73 | 280 | 0.2607 | -158 | c.888 others(17): Show |
TACR3 | ENSG00000169836.5 | transcript | ENST00000304883.3 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
| TAF13_chr1_109059140_109081003 | 109071963 | TATATATA others(151): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00735.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0043a0001c0001t0001g0049others(18): Show | 30 | 414 | 0.0725 | -158 | c.106 others(17): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| TFDP1_chr13_113579753_113646473 | 113594043 | CCCAGGTG others(151): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0035 | 1 | 348 | 0.0029 | -158 | c.12+ others(15): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TMEM106C_chr12_47958596_47973878 | 47971731 | TTATATTG others(151): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG02109.hp1 others(19): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0007a0001c0003t0006g0031 | 22 | 422 | 0.0521 | -158 | c.*35 others(11): Show |
TMEM106C | ENSG00000134291.12 | transcript | ENST00000429772.7 | protein_coding | 2854 | chr12 | TogoVar | ||||||
| TMEM143_chr19_48327356_48368940 | 48365189 | GCCTGGGA others(151): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02809.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0003t0002 | a0001c0002t0005g0321a0001c0003t0002g0322 | 2 | 350 | 0.0057 | -158 | c.-14 others(11): Show |
TMEM143 | ENSG00000161558.11 | transcript | ENST00000293261.8 | protein_coding | 1250 | chr19 | TogoVar | ||||||
| TMEM163_chr2_134450759_134724000 | 134607256 | GTGAAAAG others(151): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp1 HG01109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0118a0001c0001t0001g0135a0001c0001t0001g0137others(2): Show | 5 | 222 | 0.0225 | -158 | c.323 others(19): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
| TMEM163_chr2_134450759_134724000 | 134607318 | GTGAAAAG others(151): Show |
G | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 222 | 0.0045 | -158 | c.323 others(19): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
| TMEM184B_chr22_38214291_38278010 | 38217101 | TGGATCAT others(151): Show |
T | downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0041a0001c0008t0002g0203 | 2 | 354 | 0.0057 | -158 | c.*42 others(11): Show |
TMEM184B | ENSG00000198792.13 | transcript | ENST00000361906.8 | protein_coding | 2189 | chr22 | TogoVar | ||||||
| TNC_chr9_115014575_115123157 | 115095450 | ATATATAT others(151): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01123.hp1 others(39): Show |
a0001a0002a0008others(4): Show | a0001c0002a0001c0009a0001c0011others(9): Show | a0001c0002t0001a0001c0009t0001a0001c0009t0010others(14): Show | a0001c0002t0001g0192a0001c0009t0001g0101a0001c0009t0001g0155others(38): Show | 42 | 366 | 0.1148 | -158 | c.-13 others(19): Show |
TNC | ENSG00000041982.17 | transcript | ENST00000350763.9 | protein_coding | 1/27 | chr9 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917125 | CGGAGGCT others(151): Show |
C | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0144 | 1 | 344 | 0.0029 | -158 | c.218 others(16): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| YTHDC2_chr5_113508694_113600284 | 113586882 | TATATAAT others(151): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0031 | 1 | 316 | 0.0032 | -158 | c.382 others(19): Show |
YTHDC2 | ENSG00000047188.16 | transcript | ENST00000161863.9 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393827 | TCAGGTGG others(151): Show |
T | intron_variant | MODIFIER | HG01361.hp2 NA19085.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0003c0007t0009 | a0001c0001t0002g0026a0003c0007t0009g0186 | 2 | 346 | 0.0058 | -158 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393932 | GGGGAAGG others(151): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0017 | 1 | 346 | 0.0029 | -158 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393964 | AGGTGGTC others(151): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0042 | a0001c0042t0103 | a0001c0042t0103g0126 | 1 | 346 | 0.0029 | -158 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393983 | AGGCAGGT others(151): Show |
A | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0167 | 1 | 346 | 0.0029 | -158 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF675_chr19_23647801_23692212 | 23667767 | GTTTACAA others(151): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0241a0001c0001t0001g0242 | 4 | 376 | 0.0106 | -158 | c.4-4 others(13): Show |
ZNF675 | ENSG00000197372.10 | transcript | ENST00000359788.9 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
| AATK_chr17_81112295_81171221 | 81140702 | TGGGGCGG others(150): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | -157 | c.56- others(15): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
| ACAP2_chr3_195269745_195448020 | 195272790 | AAAAAAAA others(150): Show |
A | downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 324 | 0.0031 | -157 | c.*63 others(11): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1954 | chr3 | TogoVar | ||||||
| ALOXE3_chr17_8090900_8123514 | 8107823 | AAGAAAGA others(150): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0381 | 1 | 422 | 0.0024 | -157 | c.168 others(17): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
| AP3D1_chr19_2095988_2156566 | 2128508 | CCCCACAG others(150): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0165 | 1 | 406 | 0.0025 | -157 | c.806 others(15): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | ||||||
| AP3D1_chr19_2095988_2156566 | 2128547 | CCCCACAG others(150): Show |
C | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0306 | 1 | 406 | 0.0025 | -157 | c.806 others(15): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112803990 | CCCCTCCT others(150): Show |
C | intron_variant | MODIFIER | HG02155.hp1 NA18942.hp2 |
a0001a0003 | a0001c0011a0003c0007 | a0001c0011t0001a0003c0007t0005 | a0001c0011t0001g0013a0003c0007t0005g0205 | 2 | 254 | 0.0079 | -157 | c.163 others(15): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP12A_chr13_24675408_24717472 | 24703832 | CATTTTAG others(150): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00558.hp1 others(21): Show |
a0001a0002 | a0001c0003a0002c0028 | a0001c0003t0001a0001c0003t0005a0002c0028t0003 | a0001c0003t0001g0055a0001c0003t0001g0078a0001c0003t0001g0184others(20): Show | 24 | 382 | 0.0628 | -157 | c.201 others(19): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25977173 | AGTCACCT others(150): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0114 | 1 | 122 | 0.0082 | -157 | c.337 others(19): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | chr13 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82972716 | TGGTACTG others(150): Show |
T | intron_variant | MODIFIER | HG00597.hp1 NA18943.hp1 NA18983.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0022 | a0001c0002t0010a0001c0006t0010a0002c0022t0003 | a0001c0002t0010g0126a0001c0002t0010g0132a0001c0006t0010g0010others(1): Show | 4 | 266 | 0.0150 | -157 | c.460 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| BACE1_chr11_117280698_117321256 | 117320402 | GTAGCTGG others(150): Show |
G | upstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 400 | 0.0025 | -157 | c.-47 others(11): Show |
BACE1 | ENSG00000186318.18 | transcript | ENST00000313005.11 | protein_coding | 4147 | chr11 | TogoVar | ||||||
| BAK1_chr6_33567552_33585276 | 33568570 | TGCAGTGA others(150): Show |
T | downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 434 | 0.0023 | -157 | c.*50 others(11): Show |
BAK1 | ENSG00000030110.14 | transcript | ENST00000374467.4 | protein_coding | 3981 | chr6 | TogoVar | ||||||
| CACNA1H_chr16_1148106_1226768 | 1191093 | TCAGCAGG others(150): Show |
T | intron_variant | MODIFIER | HG03098.hp2 HG03209.hp1 HG03225.hp2 |
a0002a0008a0017 | a0002c0055a0008c0056a0017c0064 | a0002c0055t0001a0008c0056t0038a0017c0064t0032 | a0002c0055t0001g0215a0008c0056t0038g0224a0017c0064t0032g0276 | 3 | 338 | 0.0089 | -157 | c.300 others(17): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53924473 | TCCGAGGT others(150): Show |
T | intron_variant | MODIFIER | HG02922.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028a0001c0001t0003g0029 | 2 | 364 | 0.0055 | -157 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CANT1_chr17_78986716_79014764 | 79004452 | AGAGGGGA others(150): Show |
A | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0066 | 1 | 394 | 0.0025 | -157 | c.-14 others(19): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| CENPVL3_chrX_51612020_51623912 | 51621533 | CTTCTTGT others(150): Show |
C | upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 298 | 0.0034 | -157 | c.-28 others(11): Show |
CENPVL3 | ENSG00000224109.4 | transcript | ENST00000417339.4 | protein_coding | 2622 | chrX | TogoVar | ||||||
| CUL4A_chr13_113204613_113272108 | 113232093 | ACTGTCAC others(150): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0339a0001c0001t0005g0340 | 2 | 396 | 0.0051 | -157 | c.513 others(16): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CUL4A_chr13_113204613_113272108 | 113232118 | CATTACTG others(150): Show |
C | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 396 | 0.0025 | -157 | c.513 others(16): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| DACH1_chr13_71432966_71872204 | 71734163 | ATACCCCA others(150): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0075 | 1 | 102 | 0.0098 | -157 | c.849 others(19): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
| DAGLB_chr7_6404129_6452954 | 6421309 | AGGCAGCG others(150): Show |
A | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0096 | 1 | 380 | 0.0026 | -157 | c.121 others(17): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 9/14 | chr7 | TogoVar | ||||||
| DCAF16_chr4_17795655_17815757 | 17815046 | AGCCATTT others(150): Show |
A | upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 424 | 0.0024 | -157 | c.-55 others(11): Show |
DCAF16 | ENSG00000163257.11 | transcript | ENST00000382247.6 | protein_coding | 4290 | chr4 | TogoVar | ||||||
| DFFB_chr1_3852476_3890429 | 3874263 | TGTGGTCT others(150): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(59): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(14): Show | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0077others(50): Show | 62 | 404 | 0.1535 | -157 | c.782 others(17): Show |
DFFB | ENSG00000169598.17 | transcript | ENST00000378209.8 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2228297 | AAGGGAGG others(150): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0037 | 2 | 50 | 0.0400 | -157 | c.805 others(17): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar |