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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERINC4_chr15_43789162_43805220 | 43797216 | A | AAG | frameshift_variant | HIGH | HG00423.hp2 HG02083.hp2 NA18941.hp2 others(11): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0006a0002c0003t0001 | a0002c0002t0001g0009a0002c0002t0006g0022a0002c0003t0001g0020others(2): Show | 14 | 382 | 0.0367 | 2 | c.772 others(9): Show |
p.Met others(5): Show |
SERINC4 | ENSG00000184716.14 | transcript | ENST00000319327.7 | protein_coding | 6/12 | 1006/2629 | 772/1557 | 258/518 | chr15 | TogoVar | ||
SIGLEC12_chr19_51486227_51506800 | 51501537 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0003a0001c0010others(23): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(27): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0012others(92): Show | 229 | 432 | 0.5301 | 1 | c.196 others(4): Show |
p.Ala others(4): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 263/2269 | 196/1788 | 66/595 | chr19 | TogoVar | ||
SLAIN1_chr13_77692687_77769229 | 77698132 | T | TGG | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(279): Show | 299 | 300 | 0.9967 | 2 | c.220 others(9): Show |
p.Leu others(4): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/7 | 449/3009 | 222/1773 | 74/590 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
SLAIN1_chr13_77692687_77769229 | 77698141 | G | GC | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(279): Show | 299 | 300 | 0.9967 | 1 | c.230 others(4): Show |
p.Leu others(4): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/7 | 458/3009 | 231/1773 | 77/590 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
SLC22A24_chr11_63074940_63149221 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0017a0002c0002others(14): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(16): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(263): Show | 268 | 366 | 0.7322 | 0 | c.150 others(4): Show |
p.Tyr others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 9/10 | 1945/2101 | 1503/1659 | 501/552 | chr11 | TogoVar | ||
SLC22A31_chr16_89190761_89205537 | 89196258 | GCCTGGCC others(74): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(170): Show |
a0002a0005a0006others(4): Show | a0002c0002a0002c0004a0002c0007others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(10): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0014others(30): Show | 173 | 428 | 0.4042 | -81 | c.103 others(93): Show |
p.Arg others(5): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 9/9 | 1117/1615 | 1035/1341 | 345/446 | chr16 | TogoVar | ||
SLC34A1_chr5_177379434_177403848 | 177388191 | T | G | splice_donor_variant others(1): Show |
HIGH | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 432 | 0.0023 | 0 | c.840 others(5): Show |
SLC34A1 | ENSG00000131183.11 | transcript | ENST00000324417.6 | protein_coding | 7/12 | chr5 | TogoVar | ||||||
SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0005g0001others(13): Show | 317 | 412 | 0.7694 | 0 | c.977 others(3): Show |
p.Trp others(4): Show |
SLC35G6 | ENSG00000259224.3 | transcript | ENST00000412468.4 | protein_coding | 2/2 | 1048/1583 | 977/1017 | 326/338 | chr17 | TogoVar | ||
SLC6A18_chr5_1220381_1251189 | 1240642 | C | G | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show |
a0001a0006a0007others(4): Show | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(22): Show | a0001c0002t0001g0004a0001c0002t0001g0018a0001c0002t0001g0019others(157): Show | 181 | 456 | 0.3969 | 0 | c.957 others(3): Show |
p.Tyr others(4): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 7/12 | 1054/2095 | 957/1887 | 319/628 | chr5 | TogoVar | ||
SNX27_chr1_151607050_151704080 | 151692406 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0113a0001c0001t0001g0117a0001c0001t0001g0118others(82): Show | 85 | 366 | 0.2322 | 1 | c.124 others(7): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNX27_chr1_151607050_151704080 | 151692406 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(67): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0001g0136a0001c0001t0003g0099a0001c0001t0003g0141others(65): Show | 70 | 366 | 0.1913 | 2 | c.124 others(15): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SON_chr21_33538038_33582481 | 33576378 | G | GA | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | 1 | c.723 others(5): Show |
p.Ala others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7292/8393 | 7237/7281 | 2413/2426 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
SON_chr21_33538038_33582481 | 33576390 | GA | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | -1 | c.724 others(5): Show |
p.Arg others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7303/8393 | 7248/7281 | 2416/2426 | chr21 | TogoVar | ||
SPATA31C1_chr9_87912962_87928657 | 87923373 | C | T | stop_gained | HIGH | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(39): Show |
a0005a0023a0024others(2): Show | a0005c0005a0005c0034a0023c0028others(3): Show | a0005c0005t0001a0005c0034t0001a0023c0028t0003others(3): Show | a0005c0005t0001g0003a0005c0005t0001g0005a0005c0005t0001g0023others(6): Show | 42 | 388 | 0.1083 | 0 | c.346 others(4): Show |
p.Arg others(5): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4/4 | 3495/3779 | 3466/3567 | 1156/1188 | chr9 | TogoVar | ||
SPSB2_chr12_6865935_6878303 | 6872998 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0016others(7): Show | 77 | 398 | 0.1935 | 0 | c.-96 others(5): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
TAF11L10_chr5_17592232_17602828 | 17597711 | TGGGTGCT others(724): Show |
T | start_lost others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show |
a0002a0011 | a0002c0002a0002c0006a0011c0007 | a0002c0002t0000a0002c0006t0000a0011c0007t0000 | a0002c0002t0000g0000a0002c0006t0000g0000a0011c0007t0000g0000 | 150 | 352 | 0.4261 | -731 | c.-61 others(8): Show |
p.Met others(10): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 1/1 | 117/597 | 1/597 | 1/198 | chr5 | TogoVar | ||
TDRD12_chr19_32714767_32834580 | 32826678 | AAC | A | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(112): Show |
a0002a0003a0005others(6): Show | a0002c0003a0002c0010a0003c0002others(7): Show | a0002c0003t0001a0002c0003t0011a0002c0003t0033others(20): Show | a0002c0003t0001g0002a0002c0003t0001g0003a0002c0003t0001g0174others(110): Show | 115 | 380 | 0.3026 | -2 | c.382 others(15): Show |
TDRD12 | ENSG00000173809.18 | transcript | ENST00000639142.2 | protein_coding | 31/32 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TEX26_chr13_30927656_30980500 | 30956872 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(88): Show | 102 | 414 | 0.2464 | 0 | c.313 others(5): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 3/6 | chr13 | TogoVar | ||||||
TMEM80_chr11_690816_709129 | 703043 | C | T | stop_gained | HIGH | NA18947.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0012 | 1 | 404 | 0.0025 | 0 | c.325 others(3): Show |
p.Gln others(4): Show |
TMEM80 | ENSG00000177042.16 | transcript | ENST00000397510.9 | protein_coding | 5/5 | 337/1423 | 325/432 | 109/143 | chr11 | TogoVar | ||
TMOD4_chr1_151164987_151180981 | 151170665 | T | C | splice_acceptor_variant others(1): Show |
HIGH | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 406 | 0.0025 | 0 | c.871 others(5): Show |
TMOD4 | ENSG00000163157.15 | transcript | ENST00000295314.9 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
TMPRSS3_chr21_42366890_42401052 | 42383199 | C | CTA | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00621.hp2 others(99): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0007others(6): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(16): Show | a0001c0001t0001g0251a0002c0003t0001g0007a0002c0003t0001g0011others(80): Show | 102 | 472 | 0.2161 | 2 | c.617 others(13): Show |
TMPRSS3 | ENSG00000160183.17 | transcript | ENST00000644384.2 | protein_coding | 7/12 | chr21 | TogoVar | ||||||
TMPRSS4_chr11_118072078_118126890 | 118094815 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0092a0001c0001t0002g0190a0001c0001t0003g0009others(124): Show | 130 | 406 | 0.3202 | 0 | c.4-1 others(3): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
TNFAIP8_chr5_119351019_119404688 | 119392800 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00741.hp2 HG01496.hp2 others(39): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0015a0001c0002t0018others(22): Show | a0001c0002t0007g0211a0001c0002t0007g0215a0001c0002t0007g0220others(37): Show | 42 | 384 | 0.1094 | 1 | c.32- others(5): Show |
TNFAIP8 | ENSG00000145779.8 | transcript | ENST00000504771.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
TNRC18_chr7_5301811_5428834 | 5388813 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG00544.hp2 HG01109.hp1 others(19): Show |
a0003a0034a0036others(1): Show | a0003c0017a0003c0041a0003c0044others(18): Show | a0003c0017t0002a0003c0017t0007a0003c0041t0007others(19): Show | a0003c0017t0002g0020a0003c0017t0007g0129a0003c0041t0007g0164others(19): Show | 22 | 306 | 0.0719 | 1 | c.101 others(5): Show |
p.Pro others(5): Show |
TNRC18 | ENSG00000182095.15 | transcript | ENST00000430969.6 | protein_coding | 5/30 | 1647/10839 | 1010/8907 | 337/2968 | chr7 | TogoVar | ||
TOR1AIP1_chr1_179877285_179925076 | 179914055 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00544.hp2 HG02056.hp1 HG02071.hp2 others(16): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0002 | a0001c0003t0001g0003a0001c0003t0001g0009a0001c0003t0001g0160others(7): Show | 19 | 290 | 0.0655 | 0 | c.964 others(5): Show |
TOR1AIP1 | ENSG00000143337.19 | transcript | ENST00000606911.7 | protein_coding | 9/9 | chr1 | TogoVar | ||||||
TPGS1_chr19_502497_524654 | 519258 | G | GC | frameshift_variant | HIGH | HG00735.hp2 HG01978.hp1 HG02074.hp1 others(12): Show |
a0000 | a0000c0003a0000c0006a0000c0016 | a0000c0003t0001a0000c0003t0002a0000c0003t0004others(3): Show | a0000c0003t0001g0001a0000c0003t0001g0004a0000c0003t0001g0019others(12): Show | 15 | 344 | 0.0436 | 1 | c.711 others(4): Show |
p.Ala others(5): Show |
TPGS1 | ENSG00000141933.9 | transcript | ENST00000359315.6 | protein_coding | 2/2 | 722/1114 | 712/873 | 238/290 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(74): Show | 274 | 424 | 0.6462 | 0 | c.738 others(5): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
TRIM51G_chr11_48970498_48988885 | 48979006 | G | A | stop_gained | HIGH | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show |
a0002a0012a0013 | a0002c0002a0002c0004a0002c0015others(3): Show | a0002c0002t0002a0002c0004t0002a0002c0015t0002others(3): Show | a0002c0002t0002g0005a0002c0002t0002g0007a0002c0002t0002g0009others(58): Show | 139 | 424 | 0.3278 | 0 | c.604 others(3): Show |
p.Gln others(4): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/7 | 755/1510 | 604/1359 | 202/452 | chr11 | TogoVar | ||
TUBA3E_chr2_130186745_130203439 | 130197356 | ACACACCT others(2467): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001 | a0001c0002a0001c0005a0001c0011others(14): Show | a0001c0002t0002a0001c0005t0002a0001c0011t0002others(14): Show | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0006others(31): Show | 177 | 428 | 0.4136 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
TYW1B_chr7_72569513_72833200 | 72728896 | C | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(118): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(118): Show | 121 | 286 | 0.4231 | 0 | c.111 others(4): Show |
p.Trp others(4): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 9/14 | 1243/3117 | 1118/2007 | 373/668 | chr7 | TogoVar | ||
TYW1B_chr7_72569513_72833200 | 72744551 | C | CA | frameshift_variant | HIGH | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(209): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(209): Show | 212 | 286 | 0.7413 | 1 | c.101 others(5): Show |
p.Glu others(5): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/14 | 1139/3117 | 1014/2007 | 338/668 | chr7 | TogoVar | ||
UNC13C_chr15_53973441_54633605 | 54338354 | T | TTGTC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00738.hp1 HG01192.hp2 others(42): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(34): Show | a0001c0001t0001g0044a0001c0001t0002g0102a0001c0001t0007g0016others(42): Show | 45 | 158 | 0.2848 | 4 | c.458 others(17): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 16/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
VCX3B_chrX_8459830_8471510 | 8464991 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show |
a0000a0001a0003others(40): Show | a0000c0083a0001c0001a0001c0088others(48): Show | a0000c0083t0031a0001c0001t0001a0001c0001t0008others(61): Show | a0000c0083t0031g0037a0001c0001t0001g0001a0001c0001t0001g0014others(72): Show | 137 | 271 | 0.5055 | 0 | c.-14 others(6): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 1/2 | chrX | TogoVar | ||||||
VDR_chr12_47836537_47909994 | 47879112 | A | G | start_lost | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(234): Show | 239 | 358 | 0.6676 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 3/10 | 125/4616 | 2/1284 | 1/427 | chr12 | TogoVar | ||
VNN2_chr6_132738870_132762904 | 132752459 | A | G | splice_donor_variant others(1): Show |
HIGH | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 436 | 0.0023 | 0 | c.826 others(5): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 4/6 | chr6 | TogoVar | ||||||
VSIG10L2_chr11_125941044_125961319 | 125948513 | G | A | stop_gained | HIGH | HG00544.hp2 HG00597.hp1 HG00639.hp2 others(53): Show |
a0004a0012 | a0004c0004a0004c0008a0004c0023others(2): Show | a0004c0004t0001a0004c0008t0001a0004c0023t0001others(2): Show | a0004c0004t0001g0004a0004c0004t0001g0009a0004c0004t0001g0048others(10): Show | 56 | 446 | 0.1256 | 0 | c.642 others(3): Show |
p.Trp others(4): Show |
VSIG10L2 | ENSG00000283703.3 | transcript | ENST00000686984.1 | protein_coding | 3/12 | 654/2799 | 642/2382 | 214/793 | chr11 | TogoVar | ||
VSIG10L_chr19_51326541_51347139 | 51332638 | T | TG | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(448): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0003others(24): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0006others(40): Show | a0000c0001t0001g0004a0000c0001t0001g0012a0000c0001t0001g0014others(104): Show | 451 | 452 | 0.9978 | 1 | c.257 others(5): Show |
p.Gln others(5): Show |
VSIG10L | ENSG00000186806.6 | transcript | ENST00000335624.5 | protein_coding | 10/10 | 2591/3689 | 2576/2604 | 859/867 | chr19 | TogoVar | ||
XIRP2_chr2_166883480_167264753 | 166903714 | A | T | stop_gained | HIGH | NA18947.hp1 | a0016 | a0016c0042 | a0016c0042t0004 | a0016c0042t0004g0189 | 1 | 190 | 0.0053 | 0 | c.232 others(3): Show |
p.Lys others(3): Show |
XIRP2 | ENSG00000163092.22 | transcript | ENST00000409195.6 | protein_coding | 2/11 | 328/12682 | 232/10650 | 78/3549 | chr2 | TogoVar | ||
ZACN_chr17_76074182_76087806 | 76081716 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(86): Show |
a0003a0008a0009 | a0003c0003a0003c0012a0008c0013others(1): Show | a0003c0003t0001a0003c0012t0001a0008c0013t0001others(1): Show | a0003c0003t0001g0001a0003c0003t0001g0008a0003c0003t0001g0022others(5): Show | 89 | 392 | 0.2270 | 0 | c.841 others(3): Show |
p.Gln others(4): Show |
ZACN | ENSG00000186919.13 | transcript | ENST00000334586.10 | protein_coding | 7/9 | 924/1475 | 841/1239 | 281/412 | chr17 | TogoVar | ||
ZAN_chr7_100728595_100802797 | 100773735 | G | A | stop_gained | HIGH | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(73): Show |
a0001a0026a0029others(4): Show | a0001c0001a0001c0006a0001c0009others(14): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0001others(14): Show | a0001c0001t0001g0094a0001c0001t0001g0097a0001c0001t0001g0106others(73): Show | 76 | 308 | 0.2468 | 0 | c.564 others(4): Show |
p.Trp others(5): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 31/48 | 5845/8700 | 5649/8439 | 1883/2812 | chr7 | TogoVar | ||
ZAN_chr7_100728595_100802797 | 100773853 | TG | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0003a0005a0006others(34): Show | a0003c0003a0003c0033a0003c0041others(71): Show | a0003c0003t0001a0003c0033t0001a0003c0041t0001others(71): Show | a0003c0003t0001g0096a0003c0003t0001g0112a0003c0003t0001g0113others(148): Show | 151 | 308 | 0.4903 | -1 | c.576 others(5): Show |
p.Cys others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 31/48 | 5964/8700 | 5768/8439 | 1923/2812 | chr7 | TogoVar | ||
ZG16B_chr16_2825303_2837276 | 2830409 | CCACAGAG others(16): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0031 | 1 | 434 | 0.0023 | -23 | c.-27 others(31): Show |
ZG16B | ENSG00000162078.12 | transcript | ENST00000382280.8 | protein_coding | 2/4 | 9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
ZNF117_chr7_64966772_64996036 | 64978289 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(54): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(233): Show | 379 | 444 | 0.8536 | 0 | c.128 others(4): Show |
p.Arg others(4): Show |
ZNF117 | ENSG00000152926.16 | transcript | ENST00000282869.11 | protein_coding | 4/4 | 2567/9084 | 1282/1452 | 428/483 | chr7 | TogoVar | ||
ZNF211_chr19_57628168_57649041 | 57633347 | A | G | start_lost | HIGH | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(109): Show |
a0002a0004a0005others(2): Show | a0002c0002a0002c0013a0004c0007others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(12): Show | a0002c0002t0002g0002a0002c0002t0002g0016a0002c0002t0002g0021others(29): Show | 112 | 372 | 0.3011 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
ZNF211 | ENSG00000121417.14 | transcript | ENST00000240731.5 | protein_coding | 1/4 | 180/3773 | 1/1734 | 1/577 | chr19 | TogoVar | ||
ZNF233_chr19_44254886_44280317 | 44274642 | CG | C | frameshift_variant | HIGH | HG00323.hp1 HG00544.hp1 HG00597.hp1 others(137): Show |
a0000 | a0000c0003a0000c0004a0000c0005others(2): Show | a0000c0003t0001a0000c0004t0001a0000c0005t0001others(2): Show | a0000c0003t0001g0002a0000c0003t0001g0005a0000c0003t0001g0008others(90): Show | 140 | 408 | 0.3431 | -1 | c.198 others(5): Show |
p.Leu others(5): Show |
ZNF233 | ENSG00000159915.13 | transcript | ENST00000683810.1 | protein_coding | 5/5 | 2083/2757 | 1983/2013 | 661/670 | chr19 | TogoVar | ||
ZNF443_chr19_12424706_12446021 | 12430157 | T | A | stop_lost | HIGH | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(106): Show |
a0000 | a0000c0002a0000c0005a0000c0008others(4): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0006others(7): Show | a0000c0002t0002g0002a0000c0002t0002g0017a0000c0002t0002g0025others(33): Show | 109 | 410 | 0.2659 | 0 | c.201 others(4): Show |
p.Ter others(11): Show |
ZNF443 | ENSG00000180855.16 | transcript | ENST00000301547.10 | protein_coding | 4/4 | 2122/2573 | 2015/2016 | 672/671 | chr19 | TogoVar | ||
ZNF528_chr19_52392849_52423401 | 52401662 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(112): Show | 228 | 476 | 0.4790 | 1 | c.-13 others(7): Show |
ZNF528 | ENSG00000167555.14 | transcript | ENST00000360465.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF578_chr19_52448553_52521882 | 52501847 | T | C | start_lost | HIGH | NA18947.hp1 | a0017 | a0017c0015 | a0017c0015t0003 | a0017c0015t0003g0177 | 1 | 372 | 0.0027 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ZNF578 | ENSG00000258405.11 | transcript | ENST00000421239.7 | protein_coding | 4/6 | 269/6768 | 2/1773 | 1/590 | chr19 | TogoVar | ||
ZNF628_chr19_55471617_55489487 | 55482244 | G | GC | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00642.hp2 others(22): Show |
a0004a0005a0008others(5): Show | a0004c0054a0004c0055a0004c0082others(13): Show | a0004c0054t0001a0004c0055t0001a0004c0082t0001others(13): Show | a0004c0054t0001g0128a0004c0055t0001g0043a0004c0082t0001g0131others(20): Show | 25 | 422 | 0.0592 | 1 | c.105 others(5): Show |
p.Ala others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1325/3562 | 1057/3180 | 353/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ZNF628_chr19_55471617_55489487 | 55482444 | G | GC | frameshift_variant | HIGH | HG01261.hp2 HG03710.hp1 HG03927.hp2 others(9): Show |
a0004a0012a0014others(4): Show | a0004c0082a0004c0083a0004c0084others(9): Show | a0004c0082t0001a0004c0083t0001a0004c0084t0001others(9): Show | a0004c0082t0001g0131a0004c0083t0001g0096a0004c0084t0001g0052others(9): Show | 12 | 422 | 0.0284 | 1 | c.125 others(5): Show |
p.Gln others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1525/3562 | 1257/3180 | 419/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |