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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2CD4C_chr19_400445_414147 | 404897 | G | GGGGGGAA others(856): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0011 | 1 | 322 | 0.0031 | 863 | c.*21 others(874): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 547 | chr19 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(856): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0028 | a0028c0029 | a0028c0029t0000 | a0028c0029t0000g0056 | 1 | 346 | 0.0029 | 863 | c.963 others(880): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(856): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0209 | 1 | 322 | 0.0031 | 863 | c.165 others(880): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(856): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0071 | a0001c0002t0071g0247 | 1 | 270 | 0.0037 | 863 | c.162 others(884): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(856): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0229 | 1 | 270 | 0.0037 | 863 | c.162 others(884): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CPNE4_chr3_131528569_132040014 | 131978292 | T | TTTATATA others(856): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 94 | 0.0106 | 863 | c.-2+ others(880): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79685061 | G | GGGGTGTG others(856): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0080a0001c0003t0001g0081 | 2 | 378 | 0.0053 | 863 | c.314 others(880): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DMD_chrX_31114222_33216549 | 32704292 | C | CTGAAAGT others(856): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0008 | a0003c0008t0012 | a0003c0008t0012g0117 | 1 | 126 | 0.0079 | 863 | c.650 others(880): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32704292 | C | CTGAAAGT others(856): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01928.hp1 HG02055.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0022a0002c0009a0002c0012others(2): Show | a0001c0022t0001a0002c0009t0002a0002c0012t0002others(3): Show | a0001c0022t0001g0036a0002c0009t0002g0002a0002c0012t0002g0122others(3): Show | 6 | 126 | 0.0476 | 863 | c.650 others(880): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635168 | T | TCCCCTTC others(856): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 250 | 0.0040 | 863 | c.105 others(878): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(856): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 374 | 0.0027 | 863 | c.*14 others(874): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486886 | A | ACCTGCCC others(856): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 1 | 374 | 0.0027 | 863 | c.*14 others(874): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1127 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(856): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 374 | 0.0027 | 863 | c.772 others(878): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
IBSP_chr4_87794554_87817435 | 87798692 | T | TTGTAAAT others(856): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0036 | 1 | 454 | 0.0022 | 863 | c.-95 others(872): Show |
IBSP | ENSG00000029559.7 | transcript | ENST00000226284.7 | protein_coding | 861 | chr4 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(856): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0018 | a0018c0013 | a0018c0013t0002 | a0018c0013t0002g0031 | 1 | 88 | 0.0114 | 863 | c.507 others(882): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(856): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 88 | 0.0114 | 863 | c.507 others(882): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTTAT others(856): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01168.hp2 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227a0001c0001t0001g0228a0001c0001t0001g0229others(1): Show | 4 | 260 | 0.0154 | 863 | c.125 others(880): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NCAN_chr19_19206958_19257233 | 19211002 | C | CGGTGGCT others(856): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 HG02109.hp2 HG02165.hp1 others(14): Show |
a0001a0003a0004others(2): Show | a0001c0002a0001c0017a0003c0006others(4): Show | a0001c0002t0001a0001c0017t0014a0003c0006t0001others(6): Show | a0001c0002t0001g0107a0001c0017t0014g0123a0003c0006t0001g0028others(13): Show | 17 | 318 | 0.0535 | 863 | c.-10 others(874): Show |
NCAN | ENSG00000130287.14 | transcript | ENST00000252575.11 | protein_coding | 955 | chr19 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56739517 | G | GGGGGGGC others(856): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 378 | 0.0027 | 863 | c.-14 others(880): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56739517 | G | GGGGGGGG others(856): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0294 | 1 | 378 | 0.0027 | 863 | c.-14 others(880): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56739527 | A | ACTCCCCC others(856): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0248 | 1 | 378 | 0.0027 | 863 | c.-14 others(880): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56739527 | A | ACTCCCCC others(856): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0291 | 1 | 378 | 0.0027 | 863 | c.-14 others(880): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(856): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0108 | 1 | 178 | 0.0056 | 863 | c.773 others(878): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PNPLA7_chr9_137454952_137555402 | 137502730 | G | GGGGGGGA others(856): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0125 | 1 | 188 | 0.0053 | 863 | c.147 others(882): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131952623 | G | GGGGGGTT others(856): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0286 | 1 | 394 | 0.0025 | 863 | c.108 others(882): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(856): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0004t0010 | a0001c0001t0012g0041a0001c0004t0010g0032 | 2 | 210 | 0.0095 | 863 | c.438 others(882): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(856): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0006 | a0006c0023 | a0006c0023t0025 | a0006c0023t0025g0007 | 1 | 210 | 0.0048 | 863 | c.438 others(882): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(856): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 220 | 0.0046 | 863 | c.24+ others(880): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(856): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 338 | 0.0030 | 863 | c.-26 others(882): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(856): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00597.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0058a0001c0001t0001g0063a0001c0001t0001g0107others(24): Show | 27 | 338 | 0.0799 | 863 | c.-26 others(882): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77355126 | C | CGCATACC others(856): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0085 | 1 | 160 | 0.0063 | 863 | c.389 others(884): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(856): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0077 | 1 | 370 | 0.0027 | 863 | c.284 others(882): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(856): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0075a0002c0002t0003g0078 | 2 | 370 | 0.0054 | 863 | c.284 others(882): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SLAIN1_chr13_77692687_77769229 | 77703963 | T | TATGTTTT others(856): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 300 | 0.0033 | 863 | c.626 others(880): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SLC45A1_chr1_8313114_8349165 | 8322296 | A | ATGGGCGG others(856): Show |
intron_variant | MODIFIER | HG00544.hp1 NA19005.hp1 NA19080.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0243a0001c0002t0001g0248a0001c0002t0001g0249 | 3 | 388 | 0.0077 | 863 | c.-24 others(880): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(856): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 258 | 0.0039 | 863 | c.113 others(882): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
THEG_chr19_356747_381026 | 377080 | C | CTCTGTGC others(856): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 370 | 0.0027 | 863 | c.-11 others(874): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1055 | chr19 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50029072 | A | ACTCGTAA others(856): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 1 | 224 | 0.0045 | 863 | c.225 others(882): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50029072 | A | ACTCGTAA others(856): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 224 | 0.0045 | 863 | c.225 others(882): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(856): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0016 | 1 | 360 | 0.0028 | 863 | c.*24 others(874): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(856): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 238 | 0.0042 | 863 | c.392 others(880): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370221 | A | ATGTGTGT others(856): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0095 | 1 | 468 | 0.0021 | 863 | c.-6- others(878): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917102 | G | GTCGGGTG others(856): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0116 | 1 | 344 | 0.0029 | 863 | c.218 others(878): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975373 | A | AAATATTT others(857): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0187a0001c0002t0004g0192 | 2 | 306 | 0.0065 | 864 | c.130 others(883): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(857): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 2 | 346 | 0.0058 | 864 | c.116 others(881): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(857): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(110): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0009a0003c0004others(2): Show | a0002c0002t0001a0002c0002t0007a0002c0009t0001others(4): Show | a0002c0002t0001g0002a0002c0002t0001g0005a0002c0002t0001g0006others(63): Show | 113 | 346 | 0.3266 | 864 | c.116 others(881): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(857): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0187 | 1 | 346 | 0.0029 | 864 | c.116 others(881): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADCK5_chr8_144369047_144398242 | 144380678 | A | ACAGATGT others(857): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 346 | 0.0029 | 864 | c.116 others(881): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ANXA2_chr15_60342151_60402986 | 60350065 | C | CAGGGGAA others(857): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 334 | 0.0030 | 864 | c.838 others(879): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60350083 | G | GAGGGGAA others(857): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 334 | 0.0030 | 864 | c.838 others(879): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar |