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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAD1L1_chr7_1810795_2237945 | 1816407 | AATTAACC others(7526): Show |
A | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0092 | 1 | 264 | 0.0038 | -7533 | c.199 others(18): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | ||||||
LILRB3_chr19_54211278_54228007 | 54220482 | GGAGCTGA others(7518): Show |
G | exon_loss_variant | HIGH | HG01243.hp1 HG02004.hp1 HG02109.hp1 others(2): Show |
a0007 | a0007c0016 | a0007c0016t0008 | a0007c0016t0008g0030a0007c0016t0008g0149a0007c0016t0008g0150 | 5 | 455 | 0.0110 | -7525 | c.-50 others(13): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | chr19 | TogoVar | ||||||
OR13C2_chr9_104599671_104610627 | 104600554 | GATTGGTC others(7497): Show |
G | transcript_ablation | HIGH | NA19043.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 412 | 0.0024 | -7504 | c.-24 others(11): Show |
p.0? | OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | chr9 | TogoVar | |||||
TP63_chr3_189626389_189902276 | 189645631 | TATCTCCT others(7472): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01099.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0008others(59): Show | 62 | 312 | 0.1987 | -7479 | c.62+ others(17): Show |
TP63 | ENSG00000073282.14 | transcript | ENST00000264731.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP13A4_chr3_193393967_193559895 | 193417674 | TACCCAGA others(7465): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(42): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0216a0001c0001t0002g0181a0001c0001t0002g0182others(42): Show | 45 | 302 | 0.1490 | -7472 | c.284 others(19): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 25/29 | chr3 | TogoVar | ||||||
TNRC6B_chr22_40172925_40340808 | 40196244 | GGCTCAAG others(7460): Show |
G | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 308 | 0.0033 | -7467 | c.5+1 others(15): Show |
TNRC6B | ENSG00000100354.21 | transcript | ENST00000454349.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1369407 | AGGGCACA others(7451): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02622.hp2 HG02886.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0020a0004c0018 | a0001c0001t0003a0001c0020t0009a0004c0018t0003 | a0001c0001t0003g0036a0001c0001t0003g0106a0001c0001t0003g0107others(3): Show | 6 | 115 | 0.0522 | -7458 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CPA6_chr8_67417038_67751360 | 67634003 | TGAAGTCC others(7438): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG02896.hp2 HG03225.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023a0002c0002t0001g0109a0002c0002t0001g0134others(2): Show | 5 | 144 | 0.0347 | -7445 | c.117 others(18): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10576551 | GAAATGGT others(7432): Show |
G | intron_variant | MODIFIER | HG02040.hp2 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145a0001c0001t0001g0154 | 2 | 258 | 0.0078 | -7439 | c.170 others(19): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKG1_chr10_51069487_52303350 | 51939738 | ACCAGTGG others(7426): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02886.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0022a0001c0001t0005g0064a0001c0001t0007g0007 | 3 | 64 | 0.0469 | -7433 | c.762 others(19): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
STEAP1_chr7_90149469_90169827 | 90162409 | ACCTGCGC others(7411): Show |
A | exon_loss_variant others(5): Show |
HIGH | HG02647.hp2 | a0000 | a0000c0004 | a0000c0004t0002 | a0000c0004t0002g0042 | 1 | 422 | 0.0024 | -7418 | c.762 others(13): Show |
STEAP1 | ENSG00000164647.9 | transcript | ENST00000297205.7 | protein_coding | 5/5 | chr7 | TogoVar | ||||||
ZNF264_chr19_57186500_57227846 | 57195540 | AAGGGTCT others(7408): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0053a0001c0001t0054others(1): Show | a0001c0001t0010g0009a0001c0001t0010g0028a0001c0001t0053g0009others(2): Show | 8 | 356 | 0.0225 | -7415 | c.160 others(17): Show |
ZNF264 | ENSG00000083844.11 | transcript | ENST00000263095.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PIN4_chrX_72176757_72203340 | 72189046 | TCCCAGCT others(7362): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137a0001c0001t0002g0138 | 2 | 307 | 0.0065 | -7369 | c.117 others(16): Show |
PIN4 | ENSG00000102309.15 | transcript | ENST00000373669.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225392969 | GCCCTGCC others(7352): Show |
G | exon_loss_variant | HIGH | HG02683.hp1 | a0000 | a0000c0102 | a0000c0102t0003 | a0000c0102t0003g0177 | 1 | 240 | 0.0042 | -7359 | c.134 others(15): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 85/86 | chr1 | TogoVar | ||||||
IFTAP_chr11_36589502_36664272 | 36625907 | AGTGCAAA others(7347): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0030a0001c0001t0001g0203others(3): Show | 10 | 358 | 0.0279 | -7354 | c.137 others(15): Show |
IFTAP | ENSG00000166352.18 | transcript | ENST00000334307.10 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
SORL1_chr11_121447314_121638763 | 121502239 | CATTCTCC others(7334): Show |
C | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 272 | 0.0037 | -7341 | c.939 others(17): Show |
SORL1 | ENSG00000137642.13 | transcript | ENST00000260197.12 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TMLHE_chrX_155484011_155617952 | 155548930 | CAAAAATT others(7329): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 216 | 0.0046 | -7336 | c.-1- others(16): Show |
TMLHE | ENSG00000185973.12 | transcript | ENST00000334398.8 | protein_coding | 1/7 | chrX | TogoVar | ||||||
APOBEC3A_chr22_38952609_38968184 | 38960851 | CCATCAGG others(7326): Show |
C | exon_loss_variant | HIGH | HG02572.hp1 NA19085.hp2 |
a0000 | a0000c0007 | a0000c0007t0003 | a0000c0007t0003g0027 | 2 | 360 | 0.0056 | -7333 | c.175 others(13): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 3/5 | chr22 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124202831 | AATCTTCT others(7299): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0023 | a0001c0023t0018 | a0001c0023t0018g0038 | 1 | 116 | 0.0086 | -7306 | c.74- others(17): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | chr3 | TogoVar | ||||||
SSU72L4_chr11_4282084_4293185 | 4285884 | CGACTCCC others(7294): Show |
C | transcript_ablation | HIGH | HG01261.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 318 | 0.0031 | -7301 | c.-51 others(11): Show |
p.0? | SSU72L4 | ENSG00000283873.2 | transcript | ENST00000638166.2 | protein_coding | 1/1 | chr11 | TogoVar | |||||
CCSER1_chr4_90122394_91610295 | 91418390 | AAGAAGAG others(7292): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0008 | a0001c0008t0019 | a0001c0008t0019g0029 | 1 | 38 | 0.0263 | -7299 | c.221 others(23): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TECR_chr19_14524594_14570980 | 14548088 | AAGTAGCT others(7279): Show |
A | intron_variant | MODIFIER | HG03490.hp1 HG03654.hp1 HG03710.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0098a0001c0001t0001g0122a0001c0001t0002g0003others(3): Show | 6 | 332 | 0.0181 | -7286 | c.16- others(16): Show |
TECR | ENSG00000099797.15 | transcript | ENST00000215567.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNA2D1_chr7_81941444_82448777 | 82290845 | CTCGGCCT others(7269): Show |
C | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0042 | 1 | 144 | 0.0069 | -7276 | c.294 others(19): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144655428 | GCCCAATC others(7252): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0239 | 1 | 246 | 0.0041 | -7259 | c.-82 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
MBTPS1_chr16_84048763_84121942 | 84091220 | TCACGCCT others(7252): Show |
T | exon_loss_variant | HIGH | NA18995.hp2 | a0004 | a0004c0020 | a0004c0020t0002 | a0004c0020t0002g0132 | 1 | 424 | 0.0024 | -7259 | c.421 others(15): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 7/23 | chr16 | TogoVar | ||||||
RALYL_chr8_84178274_84926844 | 84612550 | CTCCAGAA others(7248): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0033 | 1 | 82 | 0.0122 | -7255 | c.256 others(19): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124894214 | TATTAAGT others(7231): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG03471.hp2 NA19043.hp2 |
a0001a0002 | a0001c0002a0002c0004a0002c0008 | a0001c0002t0012a0002c0004t0001a0002c0008t0001 | a0001c0002t0012g0018a0002c0004t0001g0001a0002c0008t0001g0038 | 3 | 64 | 0.0469 | -7238 | c.343 others(19): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128890506 | GGGCACGG others(7213): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 320 | 0.0031 | -7220 | c.323 others(17): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SNTG1_chr8_49906407_50801692 | 50118531 | GTTAGTTA others(7191): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00741.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0013a0001c0001t0002g0015a0001c0001t0002g0017others(21): Show | 24 | 106 | 0.2264 | -7198 | c.-10 others(21): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EPS8_chr12_15615134_15794388 | 15746373 | GCTTACTC others(7188): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 102 | 0.0098 | -7195 | c.-22 others(19): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
HSPA1A_chr6_31810543_31822942 | 31815750 | AACCGGCA others(7185): Show |
A | frameshift_variant others(2): Show |
HIGH | NA18943.hp2 | a0000 | a0000c0000 | a0000c0000t0009 | a0000c0000t0009g0000 | 1 | 419 | 0.0024 | -7192 | c.-6_ others(8): Show |
p.Met others(3): Show |
HSPA1A | ENSG00000204389.10 | transcript | ENST00000375651.7 | protein_coding | 1/1 | 209/2400 | 1/1926 | 1/641 | chr6 | TogoVar | ||
DEFA4_chr8_6930820_6943306 | 6933348 | AAACTCAC others(7162): Show |
A | transcript_ablation | HIGH | HG00323.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 486 | 0.0021 | -7169 | c.-23 others(11): Show |
p.0? | DEFA4 | ENSG00000164821.5 | transcript | ENST00000297435.3 | protein_coding | 2/3 | chr8 | TogoVar | |||||
NAA15_chr4_139296505_139396384 | 139310190 | CACGCCTG others(7162): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG02109.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0217a0001c0001t0009g0215a0001c0001t0009g0216others(2): Show | 5 | 334 | 0.0150 | -7169 | c.54+ others(16): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23249555 | CTTTTTTT others(7150): Show |
C | exon_loss_variant | HIGH | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 1 | 54 | 0.0185 | -7157 | c.114 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23248905 | TCCTGAAT others(7149): Show |
T | exon_loss_variant | HIGH | HG02486.hp1 HG02717.hp1 HG03471.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039a0002c0002t0001g0043a0002c0002t0001g0044 | 3 | 54 | 0.0556 | -7156 | c.114 others(15): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23249555 | CTTTTTTT others(7149): Show |
C | exon_loss_variant | HIGH | HG02055.hp1 HG02965.hp1 HG03130.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0038 | 5 | 54 | 0.0926 | -7156 | c.114 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23244142 | CTGGTCAT others(7148): Show |
C | exon_loss_variant | HIGH | HG01074.hp1 NA18974.hp1 NA19091.hp1 |
a0002a0007a0009 | a0002c0002a0007c0015a0009c0010 | a0002c0002t0001a0007c0015t0001a0009c0010t0001 | a0002c0002t0001g0041a0007c0015t0001g0051a0009c0010t0001g0029 | 3 | 54 | 0.0556 | -7155 | c.114 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23244201 | TAGAATGA others(7147): Show |
T | exon_loss_variant | HIGH | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 1 | 54 | 0.0185 | -7154 | c.100 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 14/28 | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23249556 | TTTTTTTT others(7147): Show |
T | exon_loss_variant | HIGH | HG02572.hp1 HG03098.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047a0002c0002t0001g0048 | 2 | 54 | 0.0370 | -7154 | c.114 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ4_chrY_24828919_24912040 | 24882359 | CTTTTTTA others(7147): Show |
C | exon_loss_variant | HIGH | NA19000.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0032 | 1 | 41 | 0.0244 | -7154 | c.164 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23271699 | TTAAATAA others(7146): Show |
T | exon_loss_variant | HIGH | NA18974.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0051 | 1 | 54 | 0.0185 | -7153 | c.157 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23269959 | TATTGAAA others(7145): Show |
T | exon_loss_variant | HIGH | HG01928.hp1 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0020 | 1 | 54 | 0.0185 | -7152 | c.157 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ3_chrY_24758069_24818393 | 24785027 | CTATGTCA others(7131): Show |
C | exon_loss_variant | HIGH | HG02055.hp1 HG02258.hp1 HG02717.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0007others(5): Show | 10 | 45 | 0.2222 | -7138 | c.859 others(16): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 14/19 | chrY | TogoVar | ||||||
ZFYVE9_chr1_52137089_52351634 | 52243612 | GGGAAGAG others(7129): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 210 | 0.0048 | -7136 | c.217 others(20): Show |
ZFYVE9 | ENSG00000157077.16 | transcript | ENST00000287727.8 | protein_coding | 4/18 | chr1 | TogoVar | ||||||
DAZ3_chrY_24758069_24818393 | 24782064 | GTTTACCT others(7126): Show |
G | exon_loss_variant | HIGH | NA18943.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0033 | 1 | 45 | 0.0222 | -7133 | c.931 others(17): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 15/19 | chrY | TogoVar | ||||||
DAZ4_chrY_24828919_24912040 | 24868531 | CTCTAATT others(7126): Show |
C | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01069.hp1 others(19): Show |
a0002a0003a0005others(5): Show | a0002c0002a0003c0004a0005c0005others(5): Show | a0002c0002t0001a0003c0004t0001a0005c0005t0001others(5): Show | a0002c0002t0001g0009a0002c0002t0001g0012a0002c0002t0001g0025others(19): Show | 22 | 41 | 0.5366 | -7133 | c.142 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97171029 | GTCATTAA others(7120): Show |
G | intron_variant | MODIFIER | NA19079.hp2 | a0019 | a0019c0031 | a0019c0031t0007 | a0019c0031t0007g0126 | 1 | 212 | 0.0047 | -7127 | c.163 others(19): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 22/75 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LINGO2_chr9_27932617_29218601 | 28840004 | GCAGGCAC others(7108): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003a0001c0001t0006g0004 | 2 | 62 | 0.0323 | -7115 | c.-39 others(23): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
XRCC4_chr5_83072547_83358760 | 83126118 | ATTTAAAA others(7100): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 262 | 0.0038 | -7107 | c.315 others(19): Show |
XRCC4 | ENSG00000152422.16 | transcript | ENST00000396027.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MBD3L3_chr19_7051207_7063676 | 7054595 | ATAAAATA others(7093): Show |
A | transcript_ablation | HIGH | HG00140.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 288 | 0.0035 | -7100 | c.-30 others(11): Show |
p.0? | MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1/2 | chr19 | TogoVar |