view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNRNP35_chr12_123453139_123471936 | 123453143 | T | TATATAAA others(2483): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107 | 1 | 186 | 0.0054 | 2490 | c.-50 others(2501): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4995 | chr12 | TogoVar | |||||||
ZRANB3_chr2_135191969_135536218 | 135415130 | C | CAAAAAAA others(2483): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0003 | a0003c0004 | a0003c0004t0010 | a0003c0004t0010g0054 | 1 | 214 | 0.0047 | 2490 | c.162 others(2509): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 2/20 | chr2 | TogoVar | |||||||
ZRANB3_chr2_135191969_135536218 | 135415130 | C | CAAAAAAA others(2483): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0003 | a0003c0004 | a0003c0004t0010 | a0003c0004t0010g0055 | 1 | 214 | 0.0047 | 2490 | c.162 others(2509): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 2/20 | chr2 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2484): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 334 | 0.0030 | 2491 | c.147 others(2508): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 443317 | T | TAACAATG others(2484): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 432 | 0.0023 | 2491 | c.*13 others(2502): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 676 | chr12 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2484): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0086 | 1 | 388 | 0.0026 | 2491 | c.114 others(2510): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2484): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01934.hp2 HG02293.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0003g0010 a0001c0001t0004g0010 a0001c0001t0010g0010 others(2): Show |
5 | 388 | 0.0129 | 2491 | c.114 others(2510): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2484): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0153 | 1 | 170 | 0.0059 | 2491 | c.642 others(2508): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2484): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 301 | 0.0033 | 2491 | c.-11 others(2502): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858987 | G | GAATGATG others(2484): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0012 | a0012c0060 | a0012c0060t0009 | a0012c0060t0009g0136 | 1 | 294 | 0.0034 | 2491 | c.153 others(2510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2484): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0029 | 1 | 116 | 0.0086 | 2491 | c.522 others(2508): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2484): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 a0001c0001t0002g0020 |
2 | 116 | 0.0172 | 2491 | c.522 others(2508): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2484): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 116 | 0.0086 | 2491 | c.522 others(2508): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2484): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0101 | 1 | 116 | 0.0086 | 2491 | c.522 others(2508): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 102013 | T | TAATCCAT others(2484): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0034 | a0034c0083 | a0034c0083t0064 | a0034c0083t0064g0200 | 1 | 210 | 0.0048 | 2491 | c.45+ others(2506): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2484): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0289 | 1 | 358 | 0.0028 | 2491 | c.257 others(2508): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977040 | C | CCACGCAG others(2484): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0096 | a0001c0096t0029 | a0001c0096t0029g0050 | 1 | 116 | 0.0086 | 2491 | c.199 others(2510): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977040 | C | CCACGCAG others(2484): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0085 | 1 | 116 | 0.0086 | 2491 | c.199 others(2510): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(2485): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341 | 1 | 344 | 0.0029 | 2492 | c.127 others(2509): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2485): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0281 | 1 | 432 | 0.0023 | 2492 | c.103 others(2509): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2485): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 466 | 0.0022 | 2492 | c.-22 others(2509): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2485): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 316 | 0.0032 | 2492 | c.44- others(2505): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406007 | C | CAGTCTTC others(2485): Show |
3_prime_UTR_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0023 | 1 | 276 | 0.0036 | 2492 | c.*82 others(2501): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 826 | chr2 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2485): Show |
upstream_gene_variant | MODIFIER | NA18999.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 2 | 301 | 0.0066 | 2492 | c.-11 others(2503): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2485): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 301 | 0.0033 | 2492 | c.-11 others(2503): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2485): Show |
downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0083 | 1 | 302 | 0.0033 | 2492 | c.*39 others(2503): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453143 | T | TATATAAA others(2485): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 | 1 | 186 | 0.0054 | 2492 | c.-50 others(2503): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4995 | chr12 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2485): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0001 | 1 | 272 | 0.0037 | 2492 | c.389 others(2511): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2485): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0092 | 1 | 271 | 0.0037 | 2492 | c.105 others(2511): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
ANKRD22_chr10_88814896_88856844 | 88833266 | T | TAAAAAGC others(2486): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0335 | 1 | 418 | 0.0024 | 2493 | c.22- others(2508): Show |
ANKRD22 | ENSG00000152766.6 | transcript | ENST00000371930.5 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355450 | T | TGGAGGAG others(2486): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0035 | 1 | 82 | 0.0122 | 2493 | c.758 others(2508): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
GRID2_chr4_92298966_93779566 | 92649025 | T | TTCAATTT others(2486): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0007 | a0003c0007t0005 | a0003c0007t0005g0013 | 1 | 34 | 0.0294 | 2493 | c.244 others(2512): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2486): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0022 | 1 | 301 | 0.0033 | 2493 | c.-11 others(2504): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876838 | G | GGGAGGTT others(2486): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 274 | 0.0037 | 2493 | c.224 others(2512): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2486): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2493 | c.*44 others(2504): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431777 | A | ATAGGGTG others(2486): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0181 | 1 | 376 | 0.0027 | 2493 | c.101 others(2512): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273402 | A | ACATCAGA others(2486): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0088 | 1 | 392 | 0.0026 | 2493 | c.228 others(2512): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
ZNF420_chr19_37073433_37135368 | 37134671 | T | TAAGTGGG others(2486): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0271 | 1 | 326 | 0.0031 | 2493 | c.*56 others(2504): Show |
ZNF420 | ENSG00000197050.11 | transcript | ENST00000337995.4 | protein_coding | 4304 | chr19 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2487): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 298 | 0.0034 | 2494 | c.126 others(2511): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EFCAB12_chr3_129396321_129433636 | 129404496 | T | TTTAATTC others(2487): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0195 | 1 | 386 | 0.0026 | 2494 | c.125 others(2509): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 6/8 | chr3 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2487): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02970.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0175 a0001c0001t0010g0204 a0001c0001t0010g0206 |
3 | 272 | 0.0110 | 2494 | c.389 others(2513): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2487): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 272 | 0.0037 | 2494 | c.389 others(2513): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2488): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0149 | 1 | 418 | 0.0024 | 2495 | c.96+ others(2510): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64295518 | A | AAGCAGAA others(2488): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 24 | 0.0417 | 2495 | c.619 others(2516): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252918 | C | CACCACCA others(2488): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0147 | a0001c0001t0147g0239 | 1 | 366 | 0.0027 | 2495 | c.666 others(2512): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169467 | T | TCCCCCCT others(2488): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0013 | a0013c0023 | a0013c0023t0012 | a0013c0023t0012g0046 | 1 | 115 | 0.0087 | 2495 | c.*56 others(2504): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 476 | chrX | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2489): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 NA18906.hp1 others(1): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0016 | a0002c0002t0001a0003c0003t0001a0009c0016t0001 | a0002c0002t0001g0326 a0002c0002t0001g0387 a0003c0003t0001g0289 others(1): Show |
4 | 432 | 0.0093 | 2496 | c.414 others(2513): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2489): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 175 | 0.0057 | 2496 | c.164 others(2515): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2489): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 345 | 0.0029 | 2496 | c.*17 others(2507): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2489): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 2496 | c.*22 others(2507): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar |