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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERPINB12_chr18_63537369_63574329 | 63548922 | CTGAAGAA others(1205): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 400 | 0.0025 | -1212 | c.-19 others(17): Show |
SERPINB12 | ENSG00000166634.7 | transcript | ENST00000382768.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76393179 | GGGGGCAG others(1205): Show |
G | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0270 | 1 | 343 | 0.0029 | -1212 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182225673 | TTTTGGGT others(1204): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02622.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0232 a0001c0001t0004g0091 a0001c0001t0006g0017 others(10): Show |
13 | 262 | 0.0496 | -1211 | c.676 others(17): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 6/14 | chr2 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46169743 | CCCCTGCT others(1204): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0181 a0001c0001t0009g0182 |
2 | 229 | 0.0087 | -1211 | c.194 others(17): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1013905 | TGACCAGG others(1203): Show |
T | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0036 | 1 | 39 | 0.0256 | -1210 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137565750 | ACTCTGTC others(1203): Show |
A | intron_variant | MODIFIER | HG03486.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0063 |
2 | 320 | 0.0063 | -1210 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96508477 | AGCAAGAC others(1203): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0034 others(45): Show |
49 | 332 | 0.1476 | -1210 | c.60+ others(17): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUBGCP2_chr10_133273635_133313872 | 133291252 | ATGTCCCT others(1203): Show |
A | intron_variant | MODIFIER | HG00621.hp1 NA18612.hp1 NA18943.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0142 others(3): Show |
6 | 274 | 0.0219 | -1210 | c.121 others(17): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291266 | CCCCCATG others(1202): Show |
C | intron_variant | MODIFIER | HG02523.hp2 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0001a0002c0016t0002 | a0001c0001t0001g0135 a0002c0016t0002g0082 |
2 | 282 | 0.0071 | -1209 | c.121 others(17): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565804 | GGGGTGAC others(1201): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 228 | 0.0044 | -1208 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
HS2ST1_chr1_86909635_87114982 | 87057750 | CTGAGGCA others(1201): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0024 | 1 | 152 | 0.0066 | -1208 | c.125 others(19): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UNKL_chr16_1358205_1419704 | 1372851 | TACACTGC others(1201): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(223): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0007others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0032 others(222): Show |
226 | 267 | 0.8464 | -1208 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20606193 | TGACGGTT others(1200): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG02083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 a0001c0001t0001g0240 |
2 | 416 | 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 | a0092 | a0092c0034 | a0092c0034t0001 | a0092c0034t0001g0158 | 1 | 194 | 0.0052 | -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 | a0001c0001t0003a0001c0001t0010a0001c0001t0044others(1): Show | a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 others(39): Show |
42 | 394 | 0.1066 | -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 |
a0006a0008 | a0006c0005a0008c0009 | a0006c0005t0002a0008c0009t0001 | a0006c0005t0002g0030 a0008c0009t0001g0338 |
3 | 420 | 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 | a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 |
3 | 288 | 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 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0005others(4): Show | a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0019 others(28): Show |
31 | 142 | 0.2183 | -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 | 173 | 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 | a0001c0001t0002g0102 a0002c0013t0005g0005 |
2 | 156 | 0.0128 | -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 | a0001c0001t0002g0058 | 1 | 172 | 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 | 153 | 0.0065 | -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 | 86 | 0.0116 | -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 | a0004c0007t0001g0016 a0004c0007t0001g0273 a0004c0007t0001g0275 others(1): Show |
6 | 432 | 0.0139 | -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 | 406 | 0.0148 | -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 | a0017 | a0017c0065 | a0017c0065t0001 | a0017c0065t0001g0138 | 1 | 254 | 0.0039 | -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 |
a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0022 a0008c0012t0001g0023 |
2 | 256 | 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 | a0004c0005t0007g0015 a0004c0005t0007g0016 |
2 | 346 | 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 | a0001c0001t0001g0010 a0001c0001t0001g0075 a0001c0001t0001g0115 others(8): Show |
17 | 414 | 0.0411 | -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 | a0001c0001t0001g0093 | 1 | 200 | 0.0050 | -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 | 87 | 0.0230 | -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 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0100 | 1 | 148 | 0.0068 | -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 | a0001c0001t0002g0123 | 1 | 155 | 0.0065 | -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 | a0002c0005t0001g0026 | 1 | 172 | 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 | a0001c0001t0001g0022 a0002c0004t0001g0009 |
2 | 168 | 0.0119 | -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 | 89 | 0.0112 | -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 | a0001c0006t0030g0087 a0001c0010t0005g0053 a0001c0010t0005g0137 others(4): Show |
7 | 197 | 0.0355 | -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 | a0001c0002t0002g0028 a0001c0002t0002g0166 a0001c0003t0008g0005 others(3): Show |
6 | 153 | 0.0392 | -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 | a0001c0001t0001g0081 | 1 | 420 | 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 | a0001c0006t0001g0059 a0002c0003t0003g0068 a0002c0004t0001g0012 others(2): Show |
5 | 172 | 0.0291 | -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 | a0003c0003t0001g0198 | 1 | 287 | 0.0035 | -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 | a0001c0001t0001g0165 | 1 | 297 | 0.0034 | -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 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(171): Show |
188 | 400 | 0.4700 | -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 | a0001c0001t0002g0096 | 1 | 348 | 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 | a0052 | a0052c0057 | a0052c0057t0005 | a0052c0057t0005g0298 | 1 | 366 | 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 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0014 | 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 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0335 a0001c0002t0001g0311 a0001c0002t0001g0312 others(16): Show |
19 | 362 | 0.0525 | -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 |
a0002a0004a0005 | a0002c0004a0004c0010a0005c0009 | a0002c0004t0004a0002c0004t0014a0002c0004t0016others(20): Show | a0002c0004t0004g0009 a0002c0004t0014g0016 a0002c0004t0016g0018 others(23): Show |
43 | 454 | 0.0947 | -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 | a0001c0001t0001g0110 | 1 | 173 | 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 | a0001c0002t0001g0089 a0001c0002t0001g0107 a0001c0002t0001g0109 others(4): Show |
7 | 161 | 0.0435 | -1196 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar |