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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COQ10A_chr12_56261942_56275966 | 56267121 | G | T | start_lost | HIGH | HG00642.hp1 HG01106.hp1 HG01516.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 17 | 332 | 0.0512 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
COQ10A | ENSG00000135469.14 | transcript | ENST00000308197.10 | protein_coding | 1/5 | 180/1570 | 3/744 | 1/247 | chr12 | TogoVar | ||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0021a0001c0037others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(270): Show | 276 | 360 | 0.7667 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(317): Show | 412 | 448 | 0.9196 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(28): Show | 268 | 456 | 0.5877 | 0 | c.349 others(3): Show |
p.Arg others(4): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 589/3135 | 349/735 | 117/244 | chr5 | TogoVar | ||
DGCR8_chr22_20075241_20116872 | 20108945 | C | CCAACCTG others(15): Show |
frameshift_variant | HIGH | NA18989.hp1 | a0007 | a0007c0010 | a0007c0010t0008 | a0007c0010t0008g0004 | 1 | 419 | 0.0024 | 22 | c.218 others(31): Show |
p.Leu others(5): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 13/14 | 2624/4506 | 2204/2322 | 735/773 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
DIAPH2_chrX_96679842_97609997 | 96916417 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0019others(53): Show | 56 | 147 | 0.3810 | 1 | c.733 others(6): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DLG3_chrX_70439835_70510490 | 70445327 | T | TG | frameshift_variant | HIGH | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0031 | a0008c0010t0031g0245 | 1 | 278 | 0.0036 | 1 | c.131 others(4): Show |
p.Asn others(4): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 1/19 | 499/6042 | 132/2454 | 44/817 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DLG3_chrX_70439835_70510490 | 70445351 | T | TG | frameshift_variant | HIGH | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0031 | a0008c0010t0031g0245 | 1 | 278 | 0.0036 | 1 | c.150 others(8): Show |
p.Tyr others(4): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 1/19 | 518/6042 | 151/2454 | 51/817 | chrX | TogoVar | ||
DLG3_chrX_70439835_70510490 | 70445397 | A | AC | frameshift_variant | HIGH | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0031 | a0008c0010t0031g0245 | 1 | 278 | 0.0036 | 1 | c.201 others(4): Show |
p.Thr others(4): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 1/19 | 569/6042 | 202/2454 | 68/817 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DLG3_chrX_70439835_70510490 | 70445418 | G | GA | frameshift_variant | HIGH | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0031 | a0008c0010t0031g0245 | 1 | 278 | 0.0036 | 1 | c.217 others(8): Show |
p.Ala others(4): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 1/19 | 585/6042 | 218/2454 | 73/817 | chrX | TogoVar | ||
DLG3_chrX_70439835_70510490 | 70445432 | C | CG | frameshift_variant | HIGH | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0031 | a0008c0010t0031g0245 | 1 | 278 | 0.0036 | 1 | c.231 others(8): Show |
p.Thr others(4): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 1/19 | 599/6042 | 232/2454 | 78/817 | chrX | TogoVar | ||
DLG3_chrX_70439835_70510490 | 70445484 | A | AC | frameshift_variant | HIGH | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0031 | a0008c0010t0031g0245 | 1 | 278 | 0.0036 | 1 | c.288 others(4): Show |
p.Lys others(4): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 1/19 | 656/6042 | 289/2454 | 97/817 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DLG3_chrX_70439835_70510490 | 70445506 | G | GC | frameshift_variant | HIGH | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0031 | a0008c0010t0031g0245 | 1 | 278 | 0.0036 | 1 | c.309 others(4): Show |
p.Ser others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 1/19 | 677/6042 | 310/2454 | 104/817 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DLG3_chrX_70439835_70510490 | 70445514 | T | TG | frameshift_variant | HIGH | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0031 | a0008c0010t0031g0245 | 1 | 278 | 0.0036 | 1 | c.315 others(4): Show |
p.Trp others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 1/19 | 683/6042 | 316/2454 | 106/817 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DLG3_chrX_70439835_70510490 | 70445541 | C | CG | frameshift_variant | HIGH | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0031 | a0008c0010t0031g0245 | 1 | 278 | 0.0036 | 1 | c.343 others(4): Show |
p.Asp others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 1/19 | 711/6042 | 344/2454 | 115/817 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DLG3_chrX_70439835_70510490 | 70449752 | C | CG | frameshift_variant | HIGH | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0031 | a0008c0010t0031g0245 | 1 | 278 | 0.0036 | 1 | c.598 others(4): Show |
p.Val others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 4/19 | 966/6042 | 599/2454 | 200/817 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DLG3_chrX_70439835_70510490 | 70450172 | T | TG | frameshift_variant | HIGH | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0031 | a0008c0010t0031g0245 | 1 | 278 | 0.0036 | 1 | c.710 others(4): Show |
p.Ser others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 5/19 | 1078/6042 | 711/2454 | 237/817 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DMBT1_chr10_122555754_122648736 | 122581581 | CAGAAATG others(12696): Show |
C | exon_loss_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(37): Show |
a0003a0008a0011others(6): Show | a0003c0005a0003c0017a0003c0086others(10): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(12): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(34): Show | 40 | 282 | 0.1418 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0003a0004a0007others(32): Show | a0003c0005a0003c0017a0003c0086others(38): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(44): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(90): Show | 99 | 282 | 0.3511 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
DMBT1_chr10_122555754_122648736 | 122601776 | CGTTCTTG others(16213): Show |
C | exon_loss_variant | HIGH | HG00673.hp1 HG01192.hp2 HG02027.hp1 others(24): Show |
a0002a0016a0049others(3): Show | a0002c0002a0002c0095a0002c0099others(5): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(5): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0017others(21): Show | 27 | 282 | 0.0957 | -16220 | c.335 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3373/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
DNAAF4_chr15_55425308_55513234 | 55430684 | C | A | stop_gained | HIGH | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(50): Show |
a0004a0005 | a0004c0005a0004c0007a0005c0004 | a0004c0005t0001a0004c0005t0002a0004c0005t0003others(5): Show | a0004c0005t0001g0124a0004c0005t0001g0212a0004c0005t0001g0296others(50): Show | 53 | 338 | 0.1568 | 0 | c.124 others(4): Show |
p.Glu others(4): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 10/10 | 1617/1993 | 1249/1263 | 417/420 | chr15 | TogoVar | ||
DYNLT5_chr1_66747459_66784047 | 66776404 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0010a0003c0003t0021 | a0003c0003t0002g0007a0003c0003t0002g0011a0003c0003t0002g0012others(30): Show | 55 | 402 | 0.1368 | 0 | c.336 others(5): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 244970321 | T | TCCTCC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0024others(112): Show | 115 | 290 | 0.3966 | 5 | c.-90 others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFNB1_chrX_68824021_68847160 | 68838647 | T | TCC | frameshift_variant | HIGH | NA18989.hp1 | a0005 | a0005c0004 | a0005c0004t0024 | a0005c0004t0024g0137 | 1 | 335 | 0.0030 | 2 | c.160 others(9): Show |
p.Lys others(4): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 2/5 | 918/3303 | 162/1041 | 54/346 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
EFNB1_chrX_68824021_68847160 | 68838805 | AG | A | frameshift_variant | HIGH | NA18989.hp1 | a0005 | a0005c0004 | a0005c0004t0024 | a0005c0004t0024g0137 | 1 | 335 | 0.0030 | -1 | c.319 others(4): Show |
p.Glu others(5): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 2/5 | 1075/3303 | 319/1041 | 107/346 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
EFNB1_chrX_68824021_68847160 | 68840282 | T | TG | frameshift_variant | HIGH | NA18989.hp1 | a0005 | a0005c0004 | a0005c0004t0024 | a0005c0004t0024g0137 | 1 | 335 | 0.0030 | 1 | c.674 others(4): Show |
p.Ser others(5): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 5/5 | 1431/3303 | 675/1041 | 225/346 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
EFNB1_chrX_68824021_68847160 | 68840344 | T | TC | frameshift_variant | HIGH | NA18989.hp1 | a0005 | a0005c0004 | a0005c0004t0024 | a0005c0004t0024g0137 | 1 | 335 | 0.0030 | 1 | c.732 others(4): Show |
p.Gly others(5): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 5/5 | 1489/3303 | 733/1041 | 245/346 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
EFNB1_chrX_68824021_68847160 | 68840452 | T | TA | frameshift_variant | HIGH | NA18989.hp1 | a0005 | a0005c0004 | a0005c0004t0024 | a0005c0004t0024g0137 | 1 | 335 | 0.0030 | 1 | c.839 others(8): Show |
p.Ser others(5): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 5/5 | 1596/3303 | 840/1041 | 280/346 | chrX | TogoVar | ||
EFNB1_chrX_68824021_68847160 | 68840481 | G | GT | frameshift_variant | HIGH | NA18989.hp1 | a0005 | a0005c0004 | a0005c0004t0024 | a0005c0004t0024g0137 | 1 | 335 | 0.0030 | 1 | c.868 others(8): Show |
p.Gly others(5): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 5/5 | 1625/3303 | 869/1041 | 290/346 | chrX | TogoVar | ||
EFNB1_chrX_68824021_68847160 | 68840505 | G | GA | frameshift_variant | HIGH | NA18989.hp1 | a0005 | a0005c0004 | a0005c0004t0024 | a0005c0004t0024g0137 | 1 | 335 | 0.0030 | 1 | c.893 others(4): Show |
p.Pro others(5): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 5/5 | 1650/3303 | 894/1041 | 298/346 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
EFNB1_chrX_68824021_68847160 | 68840569 | A | AG | frameshift_variant | HIGH | NA18989.hp1 | a0005 | a0005c0004 | a0005c0004t0024 | a0005c0004t0024g0137 | 1 | 335 | 0.0030 | 1 | c.958 others(4): Show |
p.Val others(5): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 5/5 | 1715/3303 | 959/1041 | 320/346 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ERV3-1_chr7_64985356_65011687 | 64992360 | G | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(60): Show |
a0003a0013 | a0003c0003a0013c0019 | a0003c0003t0001a0013c0019t0001 | a0003c0003t0001g0003a0003c0003t0001g0015a0003c0003t0001g0021others(12): Show | 63 | 458 | 0.1376 | 0 | c.667 others(3): Show |
p.Arg others(4): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 2/2 | 1202/3206 | 667/1815 | 223/604 | chr7 | TogoVar | ||
FAM166B_chr9_35556831_35568878 | 35562396 | A | ATAGT | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(84): Show |
a0002a0003 | a0002c0003a0003c0004a0003c0005 | a0002c0003t0001a0002c0003t0002a0003c0004t0001others(1): Show | a0002c0003t0001g0003a0002c0003t0001g0015a0002c0003t0001g0017others(4): Show | 87 | 436 | 0.1995 | 4 | c.719 others(11): Show |
p.Tyr others(5): Show |
FAM166B | ENSG00000215187.13 | transcript | ENST00000399742.7 | protein_coding | 5/6 | 772/1054 | 722/828 | 241/275 | chr9 | TogoVar | ||
FAM90A19_chr8_7748682_7761692 | 7755067 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(70): Show |
a0001a0003a0005others(25): Show | a0001c0001a0001c0033a0003c0003others(26): Show | a0001c0001t0000a0001c0033t0000a0003c0003t0000others(26): Show | a0001c0001t0000g0002a0001c0001t0000g0004a0001c0001t0000g0005others(48): Show | 73 | 116 | 0.6293 | 0 | c.432 others(5): Show |
FAM90A19 | ENSG00000285657.1 | transcript | ENST00000647903.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FEZF2_chr3_62364681_62378550 | 62372516 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00642.hp1 HG01261.hp1 others(22): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0002g0005others(3): Show | 25 | 420 | 0.0595 | 1 | c.352 others(4): Show |
p.Ala others(5): Show |
FEZF2 | ENSG00000153266.13 | transcript | ENST00000283268.8 | protein_coding | 2/5 | 682/2112 | 352/1380 | 118/459 | chr3 | TogoVar | ||
FMO2_chr1_171180300_171217686 | 171208951 | C | T | stop_gained | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(346): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(195): Show | 349 | 366 | 0.9536 | 0 | c.141 others(4): Show |
p.Gln others(4): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1480/5215 | 1414/1608 | 472/535 | chr1 | TogoVar | ||
FXYD3_chr19_35110823_35129324 | 35116358 | AGGTGAGC others(6): Show |
A | splice_donor_variant others(2): Show |
HIGH | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0049 | 1 | 414 | 0.0024 | -13 | c.-15 others(25): Show |
FXYD3 | ENSG00000089356.19 | transcript | ENST00000604404.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GAGE10_chrX_49298646_49324841 | 49317162 | T | G | splice_acceptor_variant others(1): Show |
HIGH | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 302 | 0.0033 | 0 | c.203 others(5): Show |
GAGE10 | ENSG00000215274.6 | transcript | ENST00000407599.4 | protein_coding | 3/4 | chrX | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125301963 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp2 HG00621.hp1 HG01081.hp2 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007a0001c0002t0038 | a0001c0002t0003g0004a0001c0002t0003g0005a0001c0002t0003g0123others(27): Show | 30 | 340 | 0.0882 | 2 | c.186 others(13): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GCSAML_chr1_247544134_247582690 | 247556467 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01074.hp2 HG01123.hp2 HG01361.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0001g0182a0001c0001t0001g0194a0001c0001t0001g0212others(10): Show | 22 | 412 | 0.0534 | 0 | c.89+ others(4): Show |
GCSAML | ENSG00000169224.13 | transcript | ENST00000366488.5 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
GDPD2_chrX_70418314_70438381 | 70425009 | TC | T | frameshift_variant | HIGH | NA18989.hp1 | a0003 | a0003c0015 | a0003c0015t0007 | a0003c0015t0007g0029 | 1 | 318 | 0.0031 | -1 | c.27d others(3): Show |
p.Val others(4): Show |
GDPD2 | ENSG00000130055.14 | transcript | ENST00000374382.4 | protein_coding | 2/16 | 105/1993 | 27/1620 | 9/539 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GJB2_chr13_20182470_20197938 | 20188894 | CAATGCGT others(3): Show |
C | frameshift_variant others(1): Show |
HIGH | NA18989.hp1 | a0000 | a0000c0011 | a0000c0011t0020 | a0000c0011t0020g0042 | 1 | 420 | 0.0024 | -10 | c.678 others(16): Show |
p.Val others(5): Show |
GJB2 | ENSG00000165474.8 | transcript | ENST00000382848.5 | protein_coding | 2/2 | 865/2290 | 678/681 | 226/226 | chr13 | TogoVar | ||
GNRH2_chr20_3038622_3050747 | 3045699 | A | AGCCCC | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002 | a0000c0002t0001g0002a0000c0002t0001g0005a0000c0002t0002g0002others(1): Show | 101 | 446 | 0.2265 | 5 | c.319 others(12): Show |
p.Ser others(5): Show |
GNRH2 | ENSG00000125787.11 | transcript | ENST00000359100.6 | protein_coding | 4/4 | 375/404 | 324/342 | 108/113 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(33): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(57): Show |
a0003a0005a0043 | a0003c0003a0003c0061a0005c0005others(1): Show | a0003c0003t0002a0003c0003t0015a0003c0003t0019others(7): Show | a0003c0003t0002g0001a0003c0003t0002g0018a0003c0003t0002g0041others(23): Show | 60 | 301 | 0.1993 | 40 | c.752 others(47): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345110 | C | CGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(63): Show |
a0003a0005a0016others(4): Show | a0003c0003a0003c0061a0005c0005others(5): Show | a0003c0003t0002a0003c0003t0015a0003c0003t0019others(11): Show | a0003c0003t0002g0001a0003c0003t0002g0018a0003c0003t0002g0041others(27): Show | 66 | 301 | 0.2193 | 2 | c.749 others(9): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 849/4452 | 749/1569 | 250/522 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show |
a0000a0001a0002others(27): Show | a0000c0002a0000c0004a0000c0010others(74): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0011others(95): Show | a0000c0002t0002g0003a0000c0002t0002g0005a0000c0002t0002g0040others(132): Show | 391 | 396 | 0.9874 | -1 | c.208 others(5): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2142/3499 | 2080/2730 | 694/909 | chr15 | TogoVar | ||
GOLGA8S_chr15_23349748_23373341 | 23364403 | G | T | stop_gained | HIGH | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(75): Show |
a0002a0013a0016others(17): Show | a0002c0002a0002c0086a0002c0087others(23): Show | a0002c0002t0001a0002c0002t0020a0002c0086t0001others(24): Show | a0002c0002t0001g0004a0002c0002t0001g0011a0002c0002t0001g0018others(61): Show | 78 | 430 | 0.1814 | 0 | c.144 others(4): Show |
p.Glu others(4): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 16/19 | 1509/5186 | 1447/1917 | 483/638 | chr15 | TogoVar | ||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(82): Show | 426 | 448 | 0.9509 | 0 | c.418 others(3): Show |
p.Arg others(4): Show |
GPR33 | ENSG00000214943.5 | transcript | ENST00000399285.5 | protein_coding | 2/2 | 567/1240 | 418/1002 | 140/333 | chr14 | TogoVar | ||
GSDMB_chr17_39899595_39923635 | 39908216 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0014others(47): Show | 125 | 400 | 0.3125 | 0 | c.662 others(5): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 5/10 | chr17 | TogoVar | ||||||
H2BW2_chrX_104034956_104047454 | 104040193 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show |
a0002a0004 | a0002c0002a0002c0007a0004c0009 | a0002c0002t0001a0002c0002t0002a0002c0007t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0013others(4): Show | 112 | 332 | 0.3374 | 0 | c.199 others(3): Show |
p.Gln others(3): Show |
H2BW2 | ENSG00000101812.15 | transcript | ENST00000675318.3 | protein_coding | 1/4 | 238/870 | 199/447 | 67/148 | chrX | TogoVar |