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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DAZ2_chrY_23214533_23296356 | 23247631 | GGAGAGTA others(2365): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00738.hp1 HG01243.hp1 HG01261.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0016 a0001c0001t0001g0034 a0002c0002t0001g0003 others(4): Show |
8 | 52 | 0.1538 | -2372 | c.107 others(19): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ4_chrY_24828919_24912040 | 24882359 | CTTTTTTA others(2378): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00738.hp1 HG01192.hp1 HG01243.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 others(6): Show |
9 | 32 | 0.2813 | -2385 | c.164 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(17): Show |
268 | 454 | 0.5903 | 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 | |||
DDIT4L_chr4_100180870_100195468 | 100187718 | GT | G | frameshift_variant | HIGH | HG00323.hp2 HG00733.hp2 HG00741.hp2 others(13): Show |
a0002 | a0002c0003 | a0002c0003t0007a0002c0003t0053a0002c0003t0055 | a0002c0003t0007g0008 a0002c0003t0053g0074 a0002c0003t0055g0075 |
16 | 450 | 0.0356 | -1 | c.540 others(4): Show |
p.Lys others(5): Show |
DDIT4L | ENSG00000145358.6 | transcript | ENST00000273990.6 | protein_coding | 3/3 | 755/2604 | 540/582 | 180/193 | chr4 | TogoVar | |||
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(229): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0003c0006others(2): Show | a0002c0002t0001a0003c0003t0001a0003c0006t0001others(2): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(16): Show |
232 | 458 | 0.5066 | -2 | c.317 others(9): Show |
p.Pro others(5): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 356/434 | 317/336 | 106/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
DEFB132_chr20_252724_266096 | 257780 | T | A | start_lost | HIGH | HG01261.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0002 | 1 | 428 | 0.0023 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 1/2 | 57/2133 | 2/288 | 1/95 | chr20 | TogoVar | |||
DEPP1_chr10_44971128_44983809 | 44977450 | C | CG | frameshift_variant | HIGH | HG00621.hp2 HG00642.hp1 HG00735.hp1 others(25): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0005others(3): Show | a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0022 others(6): Show |
28 | 421 | 0.0665 | 1 | c.580 others(4): Show |
p.Arg others(5): Show |
DEPP1 | ENSG00000165507.9 | transcript | ENST00000298295.4 | protein_coding | 2/2 | 797/2120 | 580/639 | 194/212 | chr10 | TogoVar | |||
DHDH_chr19_48928699_48949969 | 48942517 | C | T | stop_gained | HIGH | HG00621.hp2 HG00738.hp2 HG01261.hp1 others(26): Show |
a0004a0013a0014 | a0004c0004a0013c0018a0014c0022 | a0004c0004t0001a0013c0018t0001a0014c0022t0001 | a0004c0004t0001g0004 a0004c0004t0001g0022 a0004c0004t0001g0053 others(10): Show |
29 | 434 | 0.0668 | 0 | c.697 others(3): Show |
p.Gln others(4): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 5/7 | 720/1064 | 697/1005 | 233/334 | chr19 | TogoVar | |||
DHRS11_chr17_36586879_36605804 | 36600156 | CCA | C | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show |
111 | 384 | 0.2891 | -2 | c.742 others(13): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS4_chr14_23948770_23974279 | 23967497 | GGGAGAAG others(6775): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(11): Show |
16 | 155 | 0.1032 | -6782 | c.722 others(13): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 8/8 | chr14 | TogoVar | |||||||
EFCAB13_chr17_47318955_47446312 | 47391492 | T | G | stop_gained | HIGH | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(10): Show |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0002a0001c0006t0003 | a0001c0006t0001g0093 a0001c0006t0001g0094 a0001c0006t0001g0095 others(10): Show |
13 | 354 | 0.0367 | 0 | c.163 others(4): Show |
p.Tyr others(4): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 15/25 | 2075/3957 | 1638/2922 | 546/973 | chr17 | TogoVar | |||
EFCAB2_chr1_244964682_245092837 | 244970321 | T | TCCTCC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(111): Show |
114 | 288 | 0.3958 | 5 | c.-90 others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32943738 | C | T | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(28): Show |
a0004a0005a0008others(5): Show | a0004c0004a0005c0037a0008c0007others(5): Show | a0004c0004t0001a0004c0004t0003a0005c0037t0004others(8): Show | a0004c0004t0001g0091 a0004c0004t0003g0060 a0004c0004t0003g0061 others(28): Show |
31 | 282 | 0.1099 | 0 | c.289 others(4): Show |
p.Gln others(4): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 23/27 | 2987/4197 | 2893/3867 | 965/1288 | chr20 | TogoVar | |||
EPB41L4A_chr5_112157619_112424277 | 112165119 | C | CTAAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(218): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0021others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 others(216): Show |
221 | 226 | 0.9779 | 5 | c.193 others(18): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 22/22 | chr5 | TogoVar | |||||||
FAM187B_chr19_35219800_35233739 | 35228117 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(4): Show | a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 others(7): Show |
126 | 448 | 0.2813 | 0 | c.564 others(3): Show |
p.Trp others(4): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/2 | 623/1194 | 564/1110 | 188/369 | chr19 | TogoVar | |||
FAM90A16_chr8_7725739_7738749 | 7732124 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(52): Show |
a0001a0002a0003others(26): Show | a0001c0003a0001c0006a0001c0029others(30): Show | a0001c0003t0001a0001c0006t0001a0001c0029t0001others(30): Show | a0001c0003t0001g0006 a0001c0003t0001g0011 a0001c0003t0001g0026 others(41): Show |
55 | 70 | 0.7857 | 0 | c.432 others(5): Show |
FAM90A16 | ENSG00000285620.1 | transcript | ENST00000648174.1 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FAM90A17_chr8_7741034_7754044 | 7747419 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(73): Show |
a0001a0002a0005others(21): Show | a0001c0001a0001c0015a0002c0005others(26): Show | a0001c0001t0001a0001c0015t0001a0002c0005t0001others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(50): Show |
76 | 108 | 0.7037 | 0 | c.432 others(5): Show |
FAM90A17 | ENSG00000285720.1 | transcript | ENST00000650426.1 | protein_coding | 3/3 | chr8 | 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 | a0001c0001t0001a0001c0033t0001a0003c0003t0001others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(48): Show |
73 | 116 | 0.6293 | 0 | c.432 others(5): Show |
FAM90A19 | ENSG00000285657.1 | transcript | ENST00000647903.1 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FAM90A8_chr8_7733387_7746396 | 7739771 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(69): Show |
a0001a0003a0004others(28): Show | a0001c0001a0003c0003a0003c0006others(29): Show | a0001c0001t0001a0003c0003t0001a0003c0006t0001others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0016 others(53): Show |
72 | 108 | 0.6667 | 0 | c.432 others(5): Show |
FAM90A8 | ENSG00000285937.1 | transcript | ENST00000647775.1 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FAM90A9_chr8_7756330_7769340 | 7762715 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(60): Show |
a0001a0003a0004others(18): Show | a0001c0001a0001c0018a0003c0003others(19): Show | a0001c0001t0001a0001c0018t0001a0003c0003t0001others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(35): Show |
63 | 92 | 0.6848 | 0 | c.432 others(5): Show |
FAM90A9 | ENSG00000285607.1 | transcript | ENST00000648344.1 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132583017 | A | AC | frameshift_variant | HIGH | HG00438.hp2 HG01261.hp2 HG01361.hp2 others(7): Show |
a0005a0018a0022others(4): Show | a0005c0051a0018c0033a0018c0060others(6): Show | a0005c0051t0015a0018c0033t0001a0018c0060t0001others(6): Show | a0005c0051t0015g0041 a0018c0033t0001g0244 a0018c0033t0001g0277 others(7): Show |
10 | 346 | 0.0289 | 1 | c.225 others(5): Show |
p.Ala others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 19/19 | 2674/4839 | 2254/3009 | 752/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
FBRSL1_chr12_132485151_132590188 | 132583374 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG01109.hp2 others(30): Show |
a0005a0007a0013others(9): Show | a0005c0052a0005c0054a0007c0022others(17): Show | a0005c0052t0005a0005c0054t0001a0007c0022t0002others(23): Show | a0005c0052t0005g0090 a0005c0054t0001g0069 a0007c0022t0002g0115 others(30): Show |
33 | 346 | 0.0954 | 1 | c.261 others(5): Show |
p.Ala others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 19/19 | 3031/4839 | 2611/3009 | 871/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
FBRSL1_chr12_132485151_132590188 | 132583509 | G | GC | frameshift_variant | HIGH | HG00408.hp2 HG00597.hp2 HG00642.hp1 others(41): Show |
a0004a0005a0011others(10): Show | a0004c0015a0004c0020a0004c0030others(20): Show | a0004c0015t0001a0004c0015t0003a0004c0015t0007others(28): Show | a0004c0015t0001g0014 a0004c0015t0003g0050 a0004c0015t0007g0080 others(41): Show |
44 | 346 | 0.1272 | 1 | c.274 others(5): Show |
p.Ala others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 19/19 | 3166/4839 | 2746/3009 | 916/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
FBXL18_chr7_5470797_5518809 | 5500960 | C | CG | frameshift_variant | HIGH | HG00544.hp2 HG00735.hp1 HG00738.hp1 others(36): Show |
a0002a0004a0005 | a0002c0004a0002c0006a0002c0017others(3): Show | a0002c0004t0001a0002c0004t0005a0002c0004t0006others(16): Show | a0002c0004t0001g0017 a0002c0004t0001g0137 a0002c0004t0001g0145 others(35): Show |
39 | 336 | 0.1161 | 1 | c.130 others(5): Show |
p.Ala others(5): Show |
FBXL18 | ENSG00000155034.21 | transcript | ENST00000382368.8 | protein_coding | 3/5 | 1443/8270 | 1308/2157 | 436/718 | chr7 | TogoVar | |||
FCRL6_chr1_159797360_159821257 | 159815623 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp2 HG00639.hp1 others(14): Show |
a0003a0007a0015 | a0003c0003a0007c0018a0007c0020others(1): Show | a0003c0003t0002a0007c0018t0002a0007c0020t0002others(1): Show | a0003c0003t0002g0013 a0003c0003t0002g0022 a0003c0003t0002g0025 others(5): Show |
17 | 450 | 0.0378 | 0 | c.126 others(4): Show |
p.Gln others(4): Show |
FCRL6 | ENSG00000181036.14 | transcript | ENST00000368106.4 | protein_coding | 10/10 | 1332/1966 | 1267/1305 | 423/434 | chr1 | TogoVar | |||
FEZF2_chr3_62364681_62378550 | 62372516 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00642.hp1 HG01261.hp1 others(22): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003 | a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0002g0005 others(2): Show |
25 | 418 | 0.0598 | 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 | |||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(275): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0122 others(271): Show |
278 | 365 | 0.7616 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FLG2_chr1_152343735_152365006 | 152350656 | G | T | stop_gained | HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show |
a0003a0004a0005others(9): Show | a0003c0002a0003c0042a0003c0043others(12): Show | a0003c0002t0002a0003c0002t0012a0003c0002t0019others(16): Show | a0003c0002t0002g0002 a0003c0002t0002g0072 a0003c0002t0002g0074 others(20): Show |
155 | 420 | 0.3690 | 0 | c.713 others(4): Show |
p.Ser others(5): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 7203/9124 | 7130/7176 | 2377/2391 | chr1 | TogoVar | |||
FMN2_chr1_240086883_240480187 | 240207539 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG00621.hp2 HG00738.hp1 others(13): Show |
a0014a0023a0031others(10): Show | a0014c0091a0014c0092a0014c0093others(13): Show | a0014c0091t0003a0014c0092t0001a0014c0093t0006others(13): Show | a0014c0091t0003g0120 a0014c0092t0001g0107 a0014c0093t0006g0138 others(13): Show |
16 | 164 | 0.0976 | 1 | c.273 others(5): Show |
p.Pro others(5): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 2960/6429 | 2733/5169 | 911/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
FMO2_chr1_171180300_171217686 | 171208951 | C | T | stop_gained | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(345): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(165): Show |
348 | 364 | 0.9560 | 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 | |||
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(332): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show |
335 | 382 | 0.8770 | -2 | c.320 others(9): Show |
p.Tyr others(5): Show |
FOLR3 | ENSG00000110203.10 | transcript | ENST00000611028.3 | protein_coding | 3/5 | 370/849 | 320/738 | 107/245 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
FOXD4L1_chr2_113493665_113506150 | 113500127 | AC | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show |
a0002a0007a0009 | a0002c0002a0002c0005a0002c0010others(3): Show | a0002c0002t0002a0002c0002t0015a0002c0002t0016others(5): Show | a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 others(5): Show |
99 | 324 | 0.3056 | -1 | c.876 others(4): Show |
p.Gly others(5): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1468/2486 | 876/1227 | 292/408 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
FOXD4L1_chr2_113493665_113506150 | 113500482 | A | G | stop_lost | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show |
a0002a0006a0007others(1): Show | a0002c0002a0002c0005a0002c0010others(4): Show | a0002c0002t0002a0002c0002t0015a0002c0002t0016others(6): Show | a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 others(6): Show |
101 | 324 | 0.3117 | 0 | c.122 others(4): Show |
p.Ter others(11): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1818/2486 | 1226/1227 | 409/408 | chr2 | TogoVar | |||
FOXD4_chr9_111231_123417 | 116800 | C | G | stop_lost | HIGH | HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show |
a0002a0005a0022others(2): Show | a0002c0002a0002c0016a0002c0040others(5): Show | a0002c0002t0002a0002c0002t0008a0002c0002t0011others(9): Show | a0002c0002t0002g0000 a0002c0002t0008g0000 a0002c0002t0011g0000 others(9): Show |
108 | 450 | 0.2400 | 0 | c.132 others(4): Show |
p.Ter others(11): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1618/2187 | 1320/1320 | 440/439 | chr9 | TogoVar | |||
FUT6_chr19_5825408_5844702 | 5831623 | G | T | stop_gained | HIGH | HG01261.hp2 HG02083.hp2 HG02523.hp2 others(14): Show |
a0006 | a0006c0005 | a0006c0005t0001a0006c0005t0003a0006c0005t0008others(4): Show | a0006c0005t0001g0015 a0006c0005t0001g0087 a0006c0005t0001g0116 others(8): Show |
17 | 434 | 0.0392 | 0 | c.945 others(3): Show |
p.Tyr others(4): Show |
FUT6 | ENSG00000156413.15 | transcript | ENST00000318336.10 | protein_coding | 3/3 | 2111/3326 | 945/1080 | 315/359 | chr19 | TogoVar | |||
GAB4_chr22_16956936_17013222 | 16988159 | C | A | stop_gained | HIGH | HG00280.hp1 HG00544.hp2 HG00558.hp2 others(144): Show |
a0002a0005 | a0002c0002a0002c0008a0002c0013others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 others(74): Show |
147 | 428 | 0.3435 | 0 | c.487 others(3): Show |
p.Gly others(4): Show |
GAB4 | ENSG00000215568.9 | transcript | ENST00000400588.5 | protein_coding | 3/10 | 595/2630 | 487/1725 | 163/574 | chr22 | TogoVar | |||
GBGT1_chr9_133147948_133168914 | 133154258 | G | T | stop_gained | HIGH | HG01243.hp2 HG01261.hp2 HG01884.hp2 others(5): Show |
a0003a0018a0021others(1): Show | a0003c0008a0003c0026a0018c0029others(2): Show | a0003c0008t0001a0003c0008t0002a0003c0008t0009others(4): Show | a0003c0008t0001g0063 a0003c0008t0001g0192 a0003c0008t0002g0183 others(5): Show |
8 | 444 | 0.0180 | 0 | c.363 others(3): Show |
p.Tyr others(4): Show |
GBGT1 | ENSG00000148288.13 | transcript | ENST00000372040.9 | protein_coding | 7/7 | 644/1954 | 363/1044 | 121/347 | chr9 | TogoVar | |||
GJC2_chr1_228144930_228164826 | 228158838 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00738.hp2 HG01261.hp1 others(5): Show |
a0002 | a0002c0003a0002c0011 | a0002c0003t0001a0002c0011t0002 | a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0003 others(4): Show |
8 | 412 | 0.0194 | 1 | c.108 others(5): Show |
p.Ala others(5): Show |
GJC2 | ENSG00000198835.4 | transcript | ENST00000366714.3 | protein_coding | 2/2 | 1182/2165 | 1085/1320 | 362/439 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(212): Show |
a0001a0006a0015others(8): Show | a0001c0001a0001c0014a0001c0023others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(43): Show |
215 | 306 | 0.7026 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
a0001a0003a0006others(19): Show | a0001c0001a0001c0005a0001c0010others(44): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(55): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(82): Show |
286 | 393 | 0.7277 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(387): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0005a0001c0010others(59): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(82): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(119): Show |
390 | 394 | 0.9898 | -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 | |||
GOLGA6L4_chr15_84230773_84250358 | 84240654 | G | T | stop_gained | HIGH | HG01109.hp1 HG01255.hp1 HG01261.hp1 others(9): Show |
a0006a0024a0031others(2): Show | a0006c0014a0006c0024a0006c0025others(4): Show | a0006c0014t0013a0006c0014t0043a0006c0024t0011others(6): Show | a0006c0014t0013g0011 a0006c0014t0043g0011 a0006c0024t0011g0013 others(6): Show |
12 | 250 | 0.0480 | 0 | c.130 others(4): Show |
p.Glu others(4): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1362/4553 | 1300/1725 | 434/574 | chr15 | TogoVar | |||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(422): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show |
425 | 446 | 0.9529 | 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 | |||
GPR42_chr19_35366068_35377962 | 35372239 | T | TTGTGTGG others(12450): Show |
frameshift_variant others(1): Show |
HIGH | HG01261.hp2 | a0008 | a0008c0027 | a0008c0027t0001 | a0008c0027t0001g0001 | 1 | 210 | 0.0048 | 12457 | c.103 others(12466): Show |
p.Asn others(5): Show |
GPR42 | ENSG00000126251.7 | transcript | ENST00000454971.3 | protein_coding | 2/2 | 1099/1665 | 1037/1041 | 346/346 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
GRIN3B_chr19_995419_1014732 | 1004897 | G | GCGTT | frameshift_variant | HIGH | HG00642.hp2 HG00741.hp2 HG01069.hp1 others(55): Show |
a0003a0010a0024others(6): Show | a0003c0005a0003c0025a0003c0026others(21): Show | a0003c0005t0002a0003c0025t0002a0003c0026t0002others(21): Show | a0003c0005t0002g0006 a0003c0005t0002g0016 a0003c0005t0002g0028 others(35): Show |
58 | 444 | 0.1306 | 4 | c.139 others(13): Show |
p.Gly others(5): Show |
GRIN3B | ENSG00000116032.5 | transcript | ENST00000234389.3 | protein_coding | 3/9 | 1416/3281 | 1397/3132 | 466/1043 | chr19 | 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 | a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0014 others(47): Show |
125 | 398 | 0.3141 | 0 | c.662 others(5): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
GTPBP3_chr19_17332553_17347731 | 17341646 | A | AG | frameshift_variant | HIGH | HG00423.hp1 HG00558.hp2 HG01099.hp2 others(46): Show |
a0004a0005a0006 | a0004c0004a0005c0005a0005c0020others(1): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0005others(7): Show | a0004c0004t0001g0006 a0004c0004t0001g0007 a0004c0004t0001g0019 others(19): Show |
49 | 405 | 0.1210 | 1 | c.142 others(5): Show |
p.Thr others(5): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 9/9 | 1487/2566 | 1428/1479 | 476/492 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
GUCA1C_chr3_108902792_108958879 | 108916126 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(6): Show | a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 others(106): Show |
110 | 372 | 0.2957 | 0 | c.442 others(5): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 3/3 | chr3 | TogoVar | |||||||
H2BW2_chrX_104034956_104047454 | 104040193 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show |
a0002a0005 | a0002c0002a0002c0006a0005c0008 | a0002c0002t0001a0002c0002t0002a0002c0006t0001others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0012 others(4): Show |
112 | 330 | 0.3394 | 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 | |||
HIBCH_chr2_190198920_190324826 | 190319749 | A | G | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(100): Show |
a0003 | a0003c0003a0003c0004a0003c0009 | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(8): Show | a0003c0003t0002g0179 a0003c0003t0002g0195 a0003c0003t0002g0197 others(97): Show |
103 | 366 | 0.2814 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/14 | 78/2434 | 2/1161 | 1/386 | chr2 | TogoVar |