| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CDA_chr1_20584097_20623903 | 20606193 | TGACGGTT others(1200): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG02083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241a0001c0001t0001g0242 | 2 | 418 | 0.0048 | -1207 | c.266 others(17): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CDH23_chr10_71391920_71820947 | 71483760 | AGGCATAG others(1199): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0066 | a0066c0034 | a0066c0034t0001 | a0066c0034t0001g0158 | 1 | 196 | 0.0051 | -1206 | c.146 others(19): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 3/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DRAM1_chr12_101872580_101928612 | 101882170 | GCGATCTC others(1199): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0021others(2): Show | a0001c0001t0004g0319a0001c0001t0004g0320a0001c0001t0004g0322others(39): Show | 42 | 396 | 0.1061 | -1206 | c.131 others(17): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| LOC102725191_chr7_12499441_12546270 | 12513719 | GGCCGGGC others(1199): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03098.hp2 |
a0006a0009 | a0006c0005a0009c0009 | a0006c0005t0002a0009c0009t0001 | a0006c0005t0002g0029a0009c0009t0001g0340 | 3 | 422 | 0.0071 | -1206 | c.3+9 others(13): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| FAM120B_chr6_170301758_170412067 | 170343273 | AAGCCTTT others(1198): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03579.hp1 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041a0001c0002t0001g0042a0001c0002t0001g0043 | 3 | 289 | 0.0104 | -1205 | c.201 others(19): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SPOCK3_chr4_166728384_167239494 | 166748189 | GCCAAAAG others(1198): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01109.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0003a0001c0003t0003a0001c0003t0004others(4): Show | a0001c0001t0003g0012a0001c0001t0003g0017a0001c0001t0003g0019others(28): Show | 31 | 144 | 0.2153 | -1205 | c.931 others(17): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 8/10 | chr4 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12621964 | GAAAGAGA others(1197): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0019 | 1 | 174 | 0.0058 | -1204 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12621968 | GAGAAAGA others(1197): Show |
G | intron_variant | MODIFIER | HG02293.hp1 NA19068.hp1 |
a0001a0002 | a0001c0001a0002c0013 | a0001c0001t0002a0002c0013t0005 | a0001c0001t0002g0102a0002c0013t0005g0005 | 2 | 174 | 0.0115 | -1204 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12622007 | AAAGAAAG others(1197): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 174 | 0.0058 | -1204 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12622015 | AAAGGAAG others(1197): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0013 | 1 | 174 | 0.0058 | -1204 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1235477 | TCTCCCGG others(1196): Show |
T | intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 106 | 0.0094 | -1203 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| IQCN_chr19_18252098_18279452 | 18276646 | GTCCCAGC others(1195): Show |
G | upstream_gene_variant | MODIFIER | HG01123.hp1 HG03225.hp2 HG03453.hp2 others(3): Show |
a0004a0006 | a0004c0007a0006c0008 | a0004c0007t0001a0006c0008t0001 | a0004c0007t0001g0016a0004c0007t0001g0272a0004c0007t0001g0274others(1): Show | 6 | 434 | 0.0138 | -1202 | c.-35 others(11): Show |
IQCN | ENSG00000130518.18 | transcript | ENST00000392413.5 | protein_coding | 2195 | chr19 | TogoVar | ||||||
| JUND_chr19_18274694_18286622 | 18276646 | GTCCCAGC others(1195): Show |
G | downstream_gene_variant | MODIFIER | HG01123.hp1 HG03225.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0000 | 6 | 408 | 0.0147 | -1202 | c.*25 others(11): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 3047 | chr19 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 960740 | GACAGACT others(1195): Show |
G | intron_variant | MODIFIER | HG02132.hp1 | a0016 | a0016c0065 | a0016c0065t0001 | a0016c0065t0001g0140 | 1 | 294 | 0.0034 | -1202 | c.194 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| TOPAZ1_chr3_44236886_44337098 | 44274840 | CACCCGGC others(1195): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03540.hp1 |
a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0021a0009c0012t0001g0022 | 2 | 258 | 0.0078 | -1202 | c.337 others(19): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LDHC_chr11_18407318_18457063 | 18421922 | AAGACTAG others(1194): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02809.hp1 |
a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0014a0004c0005t0007g0015 | 2 | 348 | 0.0058 | -1201 | c.244 others(17): Show |
LDHC | ENSG00000166796.12 | transcript | ENST00000541669.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| TMEM114_chr16_8564500_8595511 | 8594310 | CACTCTAA others(1194): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01346.hp2 HG02109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0074a0001c0001t0001g0114others(8): Show | 17 | 416 | 0.0409 | -1201 | c.-56 others(11): Show |
TMEM114 | ENSG00000232258.7 | transcript | ENST00000620492.5 | protein_coding | 3800 | chr16 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 166707 | CGTAGTGA others(1193): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 339 | 0.0030 | -1200 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1349974 | TGGGAGGA others(1193): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 344 | 0.0058 | -1200 | c.-21 others(10): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 557 | chr1 | TogoVar | ||||||
| FMNL3_chr12_49631499_49712405 | 49703494 | CAGCTTCA others(1193): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0006 | a0003c0006t0021 | a0003c0006t0021g0102 | 1 | 150 | 0.0067 | -1200 | c.126 others(17): Show |
FMNL3 | ENSG00000161791.14 | transcript | ENST00000335154.10 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12621968 | GAGAAAGA others(1193): Show |
G | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 174 | 0.0058 | -1200 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12622007 | AAAGAAAG others(1193): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0030 | 1 | 174 | 0.0058 | -1200 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12622011 | AAAGAAAG others(1193): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0025a0002c0004t0001g0009 | 2 | 174 | 0.0115 | -1200 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| MXRA8_chr1_1347691_1363555 | 1349974 | TGGGAGGA others(1193): Show |
T | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | -1200 | c.*24 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2716 | chr1 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827249 | GCGGGGGC others(1193): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02572.hp2 others(4): Show |
a0001a0002 | a0001c0006a0001c0010a0001c0013others(1): Show | a0001c0006t0030a0001c0010t0005a0001c0013t0007others(1): Show | a0001c0006t0030g0087a0001c0010t0005g0053a0001c0010t0005g0137others(4): Show | 7 | 200 | 0.0350 | -1200 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827264 | CCTACCGC others(1193): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG03471.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0007others(2): Show | a0001c0002t0002a0001c0003t0008a0001c0007t0002others(2): Show | a0001c0002t0002g0028a0001c0002t0002g0166a0001c0003t0008g0005others(3): Show | 6 | 200 | 0.0300 | -1200 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| NR4A1_chr12_52046442_52064503 | 52048337 | GTAATCCC others(1192): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 422 | 0.0024 | -1199 | c.-32 others(11): Show |
NR4A1 | ENSG00000123358.20 | transcript | ENST00000394825.6 | protein_coding | 3104 | chr12 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12621978 | GAAAGAAA others(1191): Show |
G | intron_variant | MODIFIER | HG02922.hp1 NA19030.hp1 NA19043.hp1 others(2): Show |
a0001a0002 | a0001c0006a0002c0003a0002c0004others(1): Show | a0001c0006t0001a0002c0003t0003a0002c0004t0001others(1): Show | a0001c0006t0001g0065a0002c0003t0003g0074a0002c0004t0001g0012others(2): Show | 5 | 174 | 0.0287 | -1198 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805560 | TCCCCCCT others(1191): Show |
T | downstream_gene_variant | MODIFIER | HG02074.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0229 | 1 | 314 | 0.0032 | -1198 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1274 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805560 | TCCCCCCT others(1191): Show |
T | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 319 | 0.0031 | -1198 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3632 | chr2 | TogoVar | ||||||
| RNF38_chr9_36331400_36405269 | 36362884 | GGCCTCCC others(1191): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(185): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(180): Show | 188 | 402 | 0.4677 | -1198 | c.570 others(17): Show |
RNF38 | ENSG00000137075.18 | transcript | ENST00000259605.11 | protein_coding | 4/11 | chr9 | TogoVar | ||||||
| TUBA4B_chr2_219248243_219277197 | 219268276 | GTGGAGAG others(1191): Show |
G | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 350 | 0.0029 | -1198 | c.58+ others(14): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
| ACAN_chr15_88798436_88880353 | 88855795 | GCTTCCTT others(1190): Show |
G | disruptive_inframe_deletion | MODERATE | HG02109.hp1 | a0140 | a0140c0059 | a0140c0059t0005 | a0140c0059t0005g0298 | 1 | 368 | 0.0027 | -1197 | c.322 others(9): Show |
p.Glu others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3605/8960 | 3224/7707 | 1075/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| DMD_chrX_31114222_33216549 | 31196826 | AAAAAAAA others(1190): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0017 | 1 | 126 | 0.0079 | -1197 | c.980 others(19): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
| MTMR12_chr5_32222007_32317939 | 32260004 | CCAGCCTG others(1190): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0047a0001c0002t0004a0001c0002t0010 | a0001c0001t0047g0337a0001c0002t0004g0313a0001c0002t0004g0314others(16): Show | 19 | 364 | 0.0522 | -1197 | c.713 others(17): Show |
MTMR12 | ENSG00000150712.11 | transcript | ENST00000382142.8 | protein_coding | 7/15 | chr5 | TogoVar | ||||||
| ZNF701_chr19_52565287_52592174 | 52579008 | TGTGCTGG others(1190): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01070.hp2 others(40): Show |
a0002a0006a0007others(1): Show | a0002c0004a0006c0011a0007c0014others(1): Show | a0002c0004t0004a0002c0004t0012a0002c0004t0035others(20): Show | a0002c0004t0004g0008a0002c0004t0004g0034a0002c0004t0004g0054others(26): Show | 43 | 456 | 0.0943 | -1197 | c.142 others(17): Show |
ZNF701 | ENSG00000167562.14 | transcript | ENST00000391785.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12621964 | GAAAGAGA others(1189): Show |
G | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 174 | 0.0058 | -1196 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12621968 | GAGAAAGA others(1189): Show |
G | intron_variant | MODIFIER | HG01928.hp1 HG01981.hp2 HG03195.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0003others(1): Show | a0001c0002t0001a0001c0006t0001a0002c0003t0001others(1): Show | a0001c0002t0001g0047a0001c0002t0001g0107a0001c0002t0001g0108others(4): Show | 7 | 174 | 0.0402 | -1196 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12622011 | AAAGAAAG others(1189): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0018 | 1 | 174 | 0.0058 | -1196 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12622015 | AAAGGAAG others(1189): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0112 | 1 | 174 | 0.0058 | -1196 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(1189): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0303 | 1 | 366 | 0.0027 | -1196 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745158 | CGGGGTCG others(1189): Show |
C | intron_variant | MODIFIER | HG01891.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0286a0001c0001t0004g0360 | 2 | 366 | 0.0055 | -1196 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560493 | GGCCCTGA others(1189): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054 | 1 | 180 | 0.0056 | -1196 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560598 | GCCCTGAG others(1189): Show |
G | intron_variant | MODIFIER | HG01243.hp1 NA18960.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0004t0005 | a0001c0001t0001g0157a0001c0002t0002g0052a0001c0004t0005g0051 | 3 | 180 | 0.0167 | -1196 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560962 | ACCCTGAG others(1189): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 180 | 0.0056 | -1196 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ZC3H3_chr8_143432659_143546447 | 143486776 | CACACAGA others(1189): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 352 | 0.0028 | -1196 | c.171 others(21): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | ||||||
| ITPA_chr20_3204498_3228860 | 3215887 | TGTTGGCC others(1188): Show |
T | intron_variant | MODIFIER | NA18941.hp1 NA18999.hp2 NA19002.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0270a0001c0003t0001g0271a0001c0003t0001g0272 | 3 | 414 | 0.0073 | -1195 | c.295 others(16): Show |
ITPA | ENSG00000125877.13 | transcript | ENST00000380113.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PCBP2_chr12_53447102_53486162 | 53470127 | ATAATCCC others(1188): Show |
A | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 348 | 0.0029 | -1195 | c.882 others(16): Show |
PCBP2 | ENSG00000197111.16 | transcript | ENST00000546463.6 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745155 | GCCCGGGG others(1188): Show |
G | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0267 | 1 | 366 | 0.0027 | -1195 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ZNF564_chr19_12520373_12556482 | 12539458 | GACCATCC others(1188): Show |
G | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 412 | 0.0024 | -1195 | c.3+1 others(15): Show |
ZNF564 | ENSG00000249709.8 | transcript | ENST00000339282.12 | protein_coding | 1/3 | chr19 | TogoVar |