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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPRD_chr9_8309246_10618002 | 10190391 | AAAAAAAA others(320): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0027 | 1 | 34 | 0.0294 | -327 | c.-54 others(23): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 3/45 | chr9 | TogoVar | ||||||
RFX3_chr9_3213297_3531001 | 3396055 | TTATACTT others(320): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0002 | 1 | 196 | 0.0051 | -327 | c.-8- others(13): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314421 | GAGGTACT others(320): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG03831.hp1 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0006a0001c0029a0002c0002others(5): Show | a0001c0006t0011a0001c0029t0007a0001c0029t0011others(10): Show | a0001c0006t0011g0051a0001c0029t0007g0039a0001c0029t0011g0041others(12): Show | 15 | 292 | 0.0514 | -327 | c.281 others(19): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | chr17 | TogoVar | ||||||
SYTL4_chrX_100669491_100737121 | 100694961 | AGCAGGGG others(320): Show |
A | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 285 | 0.0035 | -327 | c.540 others(17): Show |
SYTL4 | ENSG00000102362.16 | transcript | ENST00000372989.6 | protein_coding | 8/19 | chrX | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48582701 | ACAAAATA others(320): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 258 | 0.0039 | -327 | c.113 others(19): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48638362 | CCCCGACA others(320): Show |
C | intron_variant | MODIFIER | HG02135.hp2 HG02897.hp2 HG02976.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0101a0001c0001t0002g0010a0001c0001t0002g0035others(4): Show | 7 | 258 | 0.0271 | -327 | c.113 others(17): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
TANC1_chr2_158963640_159237659 | 159233722 | GGGCGTGG others(320): Show |
G | downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 258 | 0.0039 | -327 | c.*27 others(11): Show |
TANC1 | ENSG00000115183.15 | transcript | ENST00000263635.8 | protein_coding | 1064 | chr2 | TogoVar | ||||||
TANC1_chr2_158963640_159237659 | 159233728 | GGTGGCTC others(320): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00735.hp2 others(7): Show |
a0001a0004a0014 | a0001c0001a0004c0004a0014c0021 | a0001c0001t0003a0004c0004t0003a0014c0021t0003 | a0001c0001t0003g0020a0001c0001t0003g0085a0001c0001t0003g0115others(7): Show | 10 | 258 | 0.0388 | -327 | c.*27 others(11): Show |
TANC1 | ENSG00000115183.15 | transcript | ENST00000263635.8 | protein_coding | 1070 | chr2 | TogoVar | ||||||
TERB1_chr16_66749640_66806584 | 66760327 | CGGGTGCC others(320): Show |
C | intron_variant | MODIFIER | HG03669.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223a0001c0001t0001g0270 | 2 | 352 | 0.0057 | -327 | c.178 others(19): Show |
TERB1 | ENSG00000249961.10 | transcript | ENST00000433154.6 | protein_coding | 16/18 | chr16 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49214206 | CTCTGTCG others(320): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp1 HG02809.hp2 HG02922.hp2 others(5): Show |
a0001a0002a0019 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0189a0001c0002t0001g0092a0001c0002t0001g0128others(5): Show | 8 | 312 | 0.0256 | -327 | c.*27 others(11): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 2371 | chr19 | TogoVar | ||||||
TSPO_chr22_43146559_43168242 | 43153319 | TGGCTTAT others(320): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(291): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(88): Show | 294 | 400 | 0.7350 | -327 | c.-30 others(17): Show |
TSPO | ENSG00000100300.18 | transcript | ENST00000337554.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TXNRD3_chr3_126602050_126660124 | 126640079 | AGCTGCTT others(320): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(224): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(150): Show | 227 | 354 | 0.6412 | -327 | c.712 others(17): Show |
TXNRD3 | ENSG00000197763.20 | transcript | ENST00000524230.9 | protein_coding | 6/15 | chr3 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159087195 | GGCTTCCC others(320): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00738.hp1 others(52): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0003a0001c0001t0029a0001c0001t0045others(19): Show | a0001c0001t0003g0102a0001c0001t0029g0065a0001c0001t0045g0285others(52): Show | 55 | 336 | 0.1637 | -327 | c.357 others(19): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
WDR27_chr6_169452212_169707029 | 169638022 | TAAGAAAC others(320): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(89): Show |
a0002a0004a0005others(17): Show | a0002c0003a0002c0024a0002c0026others(27): Show | a0002c0003t0002a0002c0024t0005a0002c0026t0003others(37): Show | a0002c0003t0002g0046a0002c0003t0002g0047a0002c0003t0002g0048others(89): Show | 92 | 294 | 0.3129 | -327 | c.186 others(17): Show |
WDR27 | ENSG00000184465.16 | transcript | ENST00000448612.6 | protein_coding | 18/25 | chr6 | TogoVar | ||||||
WDSUB1_chr2_159230798_159291703 | 159233728 | GGTGGCTC others(320): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00735.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0038a0002c0002t0002g0053a0002c0002t0002g0054others(8): Show | 11 | 252 | 0.0437 | -327 | c.*19 others(11): Show |
WDSUB1 | ENSG00000196151.11 | transcript | ENST00000359774.9 | protein_coding | 2069 | chr2 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76393333 | AGGTGGTC others(320): Show |
A | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0141 | a0001c0002t0141g0058 | 1 | 346 | 0.0029 | -327 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76394122 | GGGTGGTC others(320): Show |
G | intron_variant | MODIFIER | HG00609.hp1 NA18959.hp2 NA18963.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0139a0001c0002t0007 | a0001c0001t0018g0199a0001c0001t0139g0063a0001c0002t0007g0187 | 3 | 346 | 0.0087 | -327 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76394422 | AGGCAGGT others(320): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01243.hp1 others(2): Show |
a0001a0002 | a0001c0016a0002c0003a0002c0009 | a0001c0016t0029a0002c0003t0052a0002c0009t0193others(1): Show | a0001c0016t0029g0070a0002c0003t0052g0345a0002c0003t0052g0346others(2): Show | 5 | 346 | 0.0145 | -327 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95076732 | GATCGAAA others(319): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0038a0001c0001t0101others(1): Show | a0001c0001t0037g0009a0001c0001t0038g0007a0001c0001t0038g0011others(2): Show | 5 | 388 | 0.0129 | -326 | c.-41 others(11): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3782 | chr1 | TogoVar | ||||||
ANKFY1_chr17_4158821_4268979 | 4191630 | TTAATCTG others(319): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG02717.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0029 | a0001c0001t0003g0235a0001c0004t0029g0132 | 2 | 300 | 0.0067 | -326 | c.137 others(19): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 10/24 | chr17 | TogoVar | ||||||
ARHGEF40_chr14_21065304_21095248 | 21067972 | TGGCTCCC others(319): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0001c0028others(29): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(41): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(143): Show | 291 | 386 | 0.7539 | -326 | c.-24 others(11): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 2331 | chr14 | TogoVar | ||||||
C1orf232_chr1_26159101_26173963 | 26163321 | CTCTTCCT others(319): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(261): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0015others(35): Show | 264 | 400 | 0.6600 | -326 | c.*51 others(9): Show |
C1orf232 | ENSG00000282872.2 | transcript | ENST00000634842.2 | protein_coding | 779 | chr1 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185427668 | GAGAATTC others(319): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01081.hp2 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0013others(11): Show | 19 | 358 | 0.0531 | -326 | c.-79 others(17): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53921829 | GTCTGGTC others(319): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02895.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0021 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(2): Show | 5 | 364 | 0.0137 | -326 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122820532 | TGACCTTA others(319): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01070.hp2 others(35): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0081a0001c0001t0001g0096a0001c0001t0001g0098others(35): Show | 38 | 126 | 0.3016 | -326 | c.339 others(19): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 1/29 | chr7 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111158887 | AATTCTTT others(319): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02647.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0233a0001c0001t0001g0234a0002c0004t0001g0239 | 3 | 410 | 0.0073 | -326 | c.340 others(15): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CGAS_chr6_73418711_73457297 | 73446429 | GAAAAAAA others(319): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00621.hp1 others(87): Show |
a0001a0004a0009 | a0001c0002a0001c0003a0001c0009others(4): Show | a0001c0002t0007a0001c0002t0013a0001c0002t0016others(30): Show | a0001c0002t0007g0015a0001c0002t0007g0049a0001c0002t0007g0050others(79): Show | 90 | 410 | 0.2195 | -326 | c.658 others(16): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
DRD3_chr3_114122580_114184052 | 114135174 | TGATATTT others(319): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(342): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0007others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(28): Show | a0001c0002t0001g0010a0001c0002t0001g0011a0001c0002t0001g0012others(326): Show | 345 | 360 | 0.9583 | -326 | c.723 others(17): Show |
DRD3 | ENSG00000151577.14 | transcript | ENST00000383673.5 | protein_coding | 5/6 | chr3 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103109362 | TCCTCCCT others(319): Show |
T | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0253 | 1 | 404 | 0.0025 | -326 | c.197 others(17): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FAM110D_chr1_26154079_26168962 | 26163321 | CTCTTCCT others(319): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0005g0001others(29): Show | 275 | 412 | 0.6675 | -326 | c.*12 others(11): Show |
FAM110D | ENSG00000197245.6 | transcript | ENST00000374268.5 | protein_coding | 2/2 | 1226 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
FAM83D_chr20_38921417_38958106 | 38955176 | AGCCGGGC others(319): Show |
A | downstream_gene_variant | MODIFIER | NA19079.hp2 NA19084.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0023a0002c0002t0003g0121 | 2 | 342 | 0.0059 | -326 | c.*26 others(11): Show |
FAM83D | ENSG00000101447.15 | transcript | ENST00000619850.2 | protein_coding | 2071 | chr20 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 26968283 | TCCTTTGA others(319): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0006a0001c0002t0009others(2): Show | a0001c0001t0001g0021a0001c0002t0006g0052a0001c0002t0009g0022others(2): Show | 5 | 92 | 0.0544 | -326 | c.-32 others(11): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 2897 | chr15 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805903 | TCCCCCCT others(319): Show |
T | downstream_gene_variant | MODIFIER | NA19066.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0003 | 1 | 314 | 0.0032 | -326 | c.*17 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1617 | chr2 | TogoVar | ||||||
GALNT1_chr18_35576740_35716834 | 35621234 | AGTAGTGG others(319): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00609.hp1 others(44): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0015a0001c0001t0017others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0011others(40): Show | 47 | 310 | 0.1516 | -326 | c.-10 others(21): Show |
GALNT1 | ENSG00000141429.14 | transcript | ENST00000269195.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GGCT_chr7_30491621_30509829 | 30495983 | TTTTTTTT others(319): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0061a0001c0001t0001g0170a0001c0001t0002g0002others(41): Show | 81 | 444 | 0.1824 | -326 | c.*78 others(10): Show |
GGCT | ENSG00000006625.18 | transcript | ENST00000275428.9 | protein_coding | 637 | chr7 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113346351 | CCCAGGAG others(319): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235a0001c0001t0001g0241 | 2 | 288 | 0.0069 | -326 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113346354 | AGGAGGAC others(319): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 288 | 0.0035 | -326 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113347213 | CCCAGGAG others(319): Show |
C | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 288 | 0.0035 | -326 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
IMMP2L_chr7_110657644_111567492 | 110902627 | TAAAGAGT others(319): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01071.hp1 HG01071.hp2 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0015others(53): Show | 56 | 84 | 0.6667 | -326 | c.306 others(19): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79886402 | GGGGACAC others(319): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01258.hp1 HG02148.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0002a0004c0008t0004 | a0001c0001t0001g0006a0001c0001t0001g0242a0001c0001t0001g0248others(5): Show | 8 | 312 | 0.0256 | -326 | c.625 others(19): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KLC4_chr6_43054631_43080093 | 43067813 | TGAAAATA others(319): Show |
T | intron_variant | MODIFIER | NA18960.hp2 NA18972.hp2 NA18988.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(1): Show | 4 | 342 | 0.0117 | -326 | c.879 others(16): Show |
KLC4 | ENSG00000137171.15 | transcript | ENST00000347162.10 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KPNA1_chr3_122416902_122519939 | 122419595 | TAGAAATG others(319): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(218): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0102others(209): Show | 221 | 400 | 0.5525 | -326 | c.*70 others(11): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 2306 | chr3 | TogoVar | ||||||
LCP1_chr13_46120923_46187177 | 46145616 | TAAAAGAG others(319): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00733.hp1 others(79): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0048a0001c0001t0001g0062a0001c0001t0001g0070others(75): Show | 82 | 382 | 0.2147 | -326 | c.117 others(18): Show |
LCP1 | ENSG00000136167.15 | transcript | ENST00000323076.7 | protein_coding | 10/15 | chr13 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953253 | CCACCCCA others(319): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0052 | a0002c0052t0001 | a0002c0052t0001g0018 | 1 | 294 | 0.0034 | -326 | c.503 others(16): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953325 | CCACCCCA others(319): Show |
C | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0156 | 1 | 294 | 0.0034 | -326 | c.503 others(16): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953348 | CGTTCACA others(319): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 294 | 0.0034 | -326 | c.503 others(16): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953424 | CGTTCACA others(319): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00597.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0051 | a0001c0001t0001a0001c0011t0001a0002c0051t0001 | a0001c0001t0001g0132a0001c0001t0001g0145a0001c0001t0001g0205others(4): Show | 7 | 294 | 0.0238 | -326 | c.503 others(15): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LRRC28_chr15_99246481_99395729 | 99289767 | ACTAAAAA others(319): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0126 | a0001c0001t0126g0278 | 1 | 332 | 0.0030 | -326 | c.385 others(17): Show |
LRRC28 | ENSG00000168904.15 | transcript | ENST00000301981.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCM2_chr3_127593411_127627436 | 127611674 | GCAGCTGA others(319): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02257.hp1 others(13): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0011others(1): Show | a0001c0002t0001a0001c0006t0001a0001c0011t0001others(1): Show | a0001c0002t0001g0035a0001c0002t0001g0077a0001c0002t0001g0262others(11): Show | 16 | 426 | 0.0376 | -326 | c.142 others(19): Show |
MCM2 | ENSG00000073111.14 | transcript | ENST00000265056.12 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544816 | GTGAGTGG others(319): Show |
G | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 286 | 0.0035 | -326 | c.154 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |