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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(2029): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001a0008a0011 | a0001c0088a0001c0091a0001c0093others(2): Show | a0001c0088t0009a0001c0091t0010a0001c0093t0006others(2): Show | a0001c0088t0009g0048a0001c0091t0010g0055a0001c0093t0006g0053others(3): Show | 6 | 116 | 0.0517 | 2036 | c.332 others(2055): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(2029): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03540.hp2 |
a0001 | a0001c0011a0001c0067 | a0001c0011t0039a0001c0067t0068 | a0001c0011t0039g0061a0001c0067t0068g0001 | 2 | 116 | 0.0172 | 2036 | c.332 others(2055): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2029): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 344 | 0.0029 | 2036 | c.327 others(2053): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2029): Show |
intron_variant | MODIFIER | HG02735.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249a0001c0001t0002g0250 | 2 | 344 | 0.0058 | 2036 | c.327 others(2053): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2029): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00733.hp2 others(21): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0001c0001t0031a0001c0001t0032others(2): Show | a0001c0001t0002g0013a0001c0001t0002g0014a0001c0001t0002g0015others(18): Show | 24 | 344 | 0.0698 | 2036 | c.327 others(2053): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2029): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0165a0001c0001t0005g0166 | 2 | 344 | 0.0058 | 2036 | c.327 others(2053): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2029): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0262 | 1 | 344 | 0.0029 | 2036 | c.327 others(2053): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2029): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 344 | 0.0029 | 2036 | c.327 others(2053): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(2029): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234a0001c0001t0002g0235 | 2 | 344 | 0.0058 | 2036 | c.327 others(2053): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2030): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0024 | 1 | 366 | 0.0027 | 2037 | c.648 others(2054): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274561 | A | ATAATCCA others(2030): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0038 | 1 | 159 | 0.0063 | 2037 | c.-90 others(2052): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274561 | A | ATAATCCA others(2030): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0123 | 1 | 159 | 0.0063 | 2037 | c.-90 others(2052): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274561 | A | ATAATCCA others(2030): Show |
intron_variant | MODIFIER | NA19010.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0044a0001c0002t0005g0040 | 2 | 159 | 0.0126 | 2037 | c.-90 others(2052): 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(2030): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 159 | 0.0063 | 2037 | c.-90 others(2052): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2030): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18959.hp1 NA18975.hp1 others(2): Show |
a0001a0002 | a0001c0007a0002c0001a0002c0052 | a0001c0007t0001a0002c0001t0001a0002c0001t0007others(1): Show | a0001c0007t0001g0222a0002c0001t0001g0043a0002c0001t0001g0045others(2): Show | 5 | 298 | 0.0168 | 2037 | c.126 others(2054): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2030): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0092 | 1 | 390 | 0.0026 | 2037 | c.972 others(2050): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 316301 | G | GACACAGA others(2030): Show |
intron_variant | MODIFIER | HG03579.hp2 HG06807.hp1 |
a0006 | a0006c0011 | a0006c0011t0003 | a0006c0011t0003g0143a0006c0011t0003g0144 | 2 | 155 | 0.0129 | 2037 | c.487 others(2052): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(2030): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 334 | 0.0030 | 2037 | c.-28 others(2056): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668975 | G | GGGGGGGT others(2031): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0007 | a0007c0032 | a0007c0032t0003 | a0007c0032t0003g0019 | 1 | 360 | 0.0028 | 2038 | c.170 others(2059): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2031): Show |
intron_variant | MODIFIER | HG02165.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0171a0001c0001t0003g0073 | 2 | 218 | 0.0092 | 2038 | c.108 others(2055): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2031): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0029 | 1 | 334 | 0.0030 | 2038 | c.147 others(2055): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C2CD4C_chr19_400445_414147 | 411156 | C | CCTGCTGG others(2031): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0067 | a0001c0002t0067g0128 | 1 | 322 | 0.0031 | 2038 | c.-21 others(2049): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2010 | chr19 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2031): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 316 | 0.0032 | 2038 | c.44- others(2051): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477720 | G | GGGAAGCG others(2031): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 316 | 0.0032 | 2038 | c.44- others(2051): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274561 | A | ATAATCCA others(2031): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01192.hp2 HG03834.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0041others(2): Show | 5 | 159 | 0.0315 | 2038 | c.-90 others(2053): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15933885 | A | AGGAATGA others(2031): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0002 | a0002c0001 | a0002c0001t0010 | a0002c0001t0010g0138 | 1 | 386 | 0.0026 | 2038 | c.198 others(2053): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084578 | G | GGGGGGGT others(2031): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0042 | 1 | 298 | 0.0034 | 2038 | c.126 others(2055): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FAM240C_chr2_241888988_241905464 | 241896559 | T | TGGGGTGT others(2031): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 37 | 0.0270 | 2038 | c.161 others(2053): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311484 | G | GTGTGCTC others(2031): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 344 | 0.0029 | 2038 | c.327 others(2055): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311484 | G | GTGTGCTC others(2031): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0041 | 2 | 344 | 0.0058 | 2038 | c.327 others(2055): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2032): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0074 | 1 | 218 | 0.0046 | 2039 | c.108 others(2056): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274561 | A | ATAATCCA others(2032): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 159 | 0.0063 | 2039 | c.-90 others(2054): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274561 | A | ATAATCCA others(2032): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0050 | 1 | 159 | 0.0063 | 2039 | c.-90 others(2054): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274561 | A | ATAATCCA others(2032): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02155.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0051a0001c0002t0003g0059 | 2 | 159 | 0.0126 | 2039 | c.-90 others(2054): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EXD3_chr9_137301896_137428162 | 137328271 | A | ACCTACAT others(2032): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0021 | a0021c0023 | a0021c0023t0001 | a0021c0023t0001g0004 | 1 | 82 | 0.0122 | 2039 | c.199 others(2058): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(2032): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0007 | a0007c0024 | a0007c0024t0001 | a0007c0024t0001g0109 | 1 | 334 | 0.0030 | 2039 | c.-28 others(2058): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(2032): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 334 | 0.0030 | 2039 | c.-28 others(2058): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
NCEH1_chr3_172625249_172716067 | 172691440 | T | TGACTTTC others(2032): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0085 | 1 | 332 | 0.0030 | 2039 | c.138 others(2058): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 415308 | T | TGGGAGGC others(2033): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0200 | 1 | 268 | 0.0037 | 2040 | c.441 others(2057): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2033): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0191 | 1 | 334 | 0.0030 | 2040 | c.147 others(2057): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(2033): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0042 | 1 | 214 | 0.0047 | 2040 | c.565 others(2057): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178525250 | A | AGGACCCG others(2033): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0024 | 1 | 236 | 0.0042 | 2040 | c.361 others(2059): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(2033): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 448 | 0.0022 | 2040 | c.51+ others(2055): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274561 | A | ATAATCCA others(2033): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 159 | 0.0063 | 2040 | c.-90 others(2055): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274561 | A | ATAATCCA others(2033): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0058 | 1 | 159 | 0.0063 | 2040 | c.-90 others(2055): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274561 | A | ATAATCCA others(2033): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 159 | 0.0063 | 2040 | c.-90 others(2055): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1274561 | A | ATAATCCA others(2033): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124 | 1 | 159 | 0.0063 | 2040 | c.-90 others(2055): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2033): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0128 | 1 | 298 | 0.0034 | 2040 | c.126 others(2057): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915628 | C | CATTAAGG others(2033): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 | 1 | 274 | 0.0037 | 2040 | c.179 others(2059): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FAM227A_chr22_38573118_38661392 | 38644315 | A | AAAAGAGG others(2033): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0324 | 1 | 328 | 0.0031 | 2040 | c.225 others(2057): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar |