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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHF_chr15_45162214_45192966 | 45168132 | TCCTGGGA others(6): Show |
T | frameshift_variant others(3): Show |
HIGH | NA19055.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0098 | 1 | 398 | 0.0025 | -13 | c.128 others(25): Show |
p.Ser others(5): Show |
SHF | ENSG00000138606.20 | transcript | ENST00000690270.1 | protein_coding | 7/7 | 1296/2215 | 1281/1467 | 427/488 | 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 | ||
SIGLEC5_chr19_51605960_51635401 | 51629822 | CCCTGCCA others(5572): Show |
C | exon_loss_variant | HIGH | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(29): Show |
a0005 | a0005c0008a0005c0014a0005c0015others(4): Show | a0005c0008t0003a0005c0014t0003a0005c0014t0009others(8): Show | a0005c0008t0003g0020a0005c0008t0003g0021a0005c0008t0003g0065others(27): Show | 32 | 414 | 0.0773 | -5579 | c.-50 others(12): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 2/9 | chr19 | TogoVar | ||||||
SLC22A14_chr3_38277294_38323575 | 38307252 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp1 HG00621.hp1 HG00735.hp2 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0199others(35): Show | 45 | 406 | 0.1108 | 0 | c.517 others(5): Show |
SLC22A14 | ENSG00000144671.11 | transcript | ENST00000448498.6 | protein_coding | 2/10 | chr3 | 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 | ||
SLC29A3_chr10_71314259_71368385 | 71323024 | C | CGGGGGGG others(10): Show |
frameshift_variant | HIGH | NA19055.hp1 | a0002 | a0002c0039 | a0002c0039t0001 | a0002c0039t0001g0102 | 1 | 410 | 0.0024 | 17 | c.274 others(24): Show |
p.Glu others(4): Show |
SLC29A3 | ENSG00000198246.10 | transcript | ENST00000373189.6 | protein_coding | 2/6 | 326/2256 | 275/1428 | 92/475 | INFO_REALIGN_3_PRIME | chr10 | 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 | ||
SLC5A4_chr22_32213464_32260347 | 32234959 | G | A | stop_gained | HIGH | HG00438.hp2 HG02155.hp1 HG02738.hp1 others(1): Show |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0104a0007c0009t0001g0105a0007c0009t0001g0106others(1): Show | 4 | 302 | 0.0133 | 0 | c.799 others(3): Show |
p.Arg others(4): Show |
SLC5A4 | ENSG00000100191.6 | transcript | ENST00000266086.6 | protein_coding | 8/15 | 817/2048 | 799/1980 | 267/659 | chr22 | TogoVar | ||
SLC7A3_chrX_70920579_70936096 | 70927999 | TG | T | frameshift_variant | HIGH | NA19055.hp1 | a0011 | a0011c0006 | a0011c0006t0003 | a0011c0006t0003g0039 | 1 | 312 | 0.0032 | -1 | c.841 others(4): Show |
p.Gln others(5): Show |
SLC7A3 | ENSG00000165349.12 | transcript | ENST00000374299.8 | protein_coding | 6/12 | 986/2239 | 841/1860 | 281/619 | chrX | TogoVar | ||
SLC7A3_chrX_70920579_70936096 | 70928981 | GC | G | frameshift_variant | HIGH | NA19055.hp1 | a0011 | a0011c0006 | a0011c0006t0003 | a0011c0006t0003g0039 | 1 | 312 | 0.0032 | -1 | c.391 others(4): Show |
p.Ala others(5): Show |
SLC7A3 | ENSG00000165349.12 | transcript | ENST00000374299.8 | protein_coding | 3/12 | 536/2239 | 391/1860 | 131/619 | chrX | TogoVar | ||
SLFN13_chr17_35430096_35453766 | 35445639 | G | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(56): Show |
a0002 | a0002c0002a0002c0014a0002c0023others(6): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0011others(17): Show | a0002c0002t0003g0003a0002c0002t0003g0022a0002c0002t0003g0060others(25): Show | 59 | 456 | 0.1294 | 0 | c.42C others(2): Show |
p.Tyr others(3): Show |
SLFN13 | ENSG00000154760.14 | transcript | ENST00000285013.11 | protein_coding | 3/6 | 247/8398 | 42/2694 | 14/897 | chr17 | TogoVar | ||
SPDYE21_chr7_67271941_67294005 | 67281505 | T | TGGGTGGC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show |
a0002a0009a0012others(2): Show | a0002c0002a0002c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0017others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(50): Show | 131 | 460 | 0.2848 | 7 | c.514 others(14): Show |
p.Glu others(5): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 4/9 | 1065/3286 | 521/1209 | 174/402 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
SRSF3_chr6_36589362_36610600 | 36601940 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(95): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0001g0051others(85): Show | 98 | 382 | 0.2565 | 1 | c.468 others(6): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SSX1_chrX_48250392_48272444 | 48263843 | G | GC | frameshift_variant | HIGH | NA19055.hp1 | a0008 | a0008c0008 | a0008c0008t0009 | a0008c0008t0009g0125 | 1 | 339 | 0.0030 | 1 | c.395 others(4): Show |
p.Gln others(5): Show |
SSX1 | ENSG00000126752.8 | transcript | ENST00000376919.4 | protein_coding | 6/8 | 457/1223 | 396/567 | 132/188 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SSX7_chrX_52639061_52659900 | 52652328 | TG | T | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0099 | 1 | 305 | 0.0033 | -1 | c.203 others(4): Show |
p.Pro others(4): Show |
SSX7 | ENSG00000187754.9 | transcript | ENST00000298181.6 | protein_coding | 4/8 | 362/1340 | 203/567 | 68/188 | chrX | TogoVar | ||
STRC_chr15_43594563_43623800 | 43614194 | ACCTGCAG others(5): Show |
A | frameshift_variant others(3): Show |
HIGH | HG02071.hp2 HG02148.hp2 HG02155.hp2 others(14): Show |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0003a0004c0003t0001g0027a0004c0003t0001g0095others(3): Show | 17 | 374 | 0.0455 | -12 | c.230 others(23): Show |
p.Lys others(5): Show |
STRC | ENSG00000242866.10 | transcript | ENST00000450892.7 | protein_coding | 6/29 | 2303/5328 | 768/1775 | chr15 | TogoVar | |||
SUN1_chr7_827476_879934 | 852644 | TCATCCCA others(12): Show |
T | frameshift_variant | HIGH | NA19055.hp2 | a0017 | a0017c0015 | a0017c0015t0008 | a0017c0015t0008g0259 | 1 | 418 | 0.0024 | -19 | c.889 others(26): Show |
p.Ile others(5): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 8/19 | 938/4010 | 889/2358 | 297/785 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
TAAR2_chr6_132612150_132629275 | 132617703 | C | T | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(24): Show |
a0002 | a0002c0003a0002c0008 | a0002c0003t0000a0002c0008t0000 | a0002c0003t0000g0004a0002c0003t0000g0029a0002c0003t0000g0056others(9): Show | 27 | 452 | 0.0597 | 0 | c.503 others(3): Show |
p.Trp others(4): Show |
TAAR2 | ENSG00000146378.6 | transcript | ENST00000367931.1 | protein_coding | 2/2 | 503/1056 | 503/1056 | 168/351 | chr6 | TogoVar | ||
TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0000 | a0000c0002a0000c0006a0000c0008others(19): Show | a0000c0002t0001a0000c0002t0003a0000c0002t0025others(28): Show | a0000c0002t0001g0001a0000c0002t0001g0037a0000c0002t0001g0040others(70): Show | 159 | 485 | 0.3278 | 0 | c.205 others(4): Show |
p.Ter others(11): Show |
TAP2 | ENSG00000204267.19 | transcript | ENST00000374897.4 | protein_coding | 12/12 | 2150/5643 | 2059/2061 | 687/686 | chr6 | TogoVar | ||
TBC1D8B_chrX_106797673_106881150 | 106802982 | A | AG | splice_donor_variant others(1): Show |
HIGH | NA19055.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0006 | 1 | 226 | 0.0044 | 1 | c.130 others(6): Show |
TBC1D8B | ENSG00000133138.20 | transcript | ENST00000357242.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | 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 | |||||
TLR8_chrX_12901620_12928169 | 12906707 | A | G | start_lost others(1): Show |
HIGH | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(44): Show | 165 | 303 | 0.5446 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TLR8 | ENSG00000101916.12 | transcript | ENST00000218032.7 | protein_coding | 1/2 | 88/4216 | 1/3126 | 1/1041 | chrX | TogoVar | ||
TNK1_chr17_7376089_7394742 | 7387376 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp2 others(53): Show |
a0001a0003a0009others(3): Show | a0001c0001a0001c0002a0001c0031others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0031t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0048others(15): Show | 56 | 452 | 0.1239 | 0 | c.139 others(6): Show |
TNK1 | ENSG00000174292.13 | transcript | ENST00000688331.1 | protein_coding | 9/12 | chr17 | 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 | ||||||
UBR2_chr6_42559029_42698505 | 42644198 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00597.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0162a0001c0001t0001g0168a0001c0001t0001g0169others(21): Show | 24 | 342 | 0.0702 | 1 | c.209 others(7): Show |
UBR2 | ENSG00000024048.11 | transcript | ENST00000372901.2 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(404): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(223): Show | 407 | 416 | 0.9784 | 0 | c.273 others(4): Show |
p.Tyr others(4): Show |
USP29 | ENSG00000131864.11 | transcript | ENST00000254181.9 | protein_coding | 4/4 | 3251/3763 | 2739/2769 | 913/922 | chr19 | TogoVar | ||
UTP14A_chrX_129901164_129934752 | 129924923 | GC | G | frameshift_variant | HIGH | NA18981.hp1 NA19055.hp1 |
a0005a0011 | a0005c0007a0011c0008 | a0005c0007t0001a0011c0008t0001 | a0005c0007t0001g0059a0011c0008t0001g0089 | 2 | 273 | 0.0073 | -1 | c.148 others(5): Show |
p.Pro others(5): Show |
UTP14A | ENSG00000156697.13 | transcript | ENST00000394422.8 | protein_coding | 12/15 | 1528/2507 | 1481/2316 | 494/771 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
UTP14A_chrX_129901164_129934752 | 129925030 | TC | T | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0059 | 1 | 273 | 0.0037 | -1 | c.158 others(5): Show |
p.Arg others(5): Show |
UTP14A | ENSG00000156697.13 | transcript | ENST00000394422.8 | protein_coding | 12/15 | 1634/2507 | 1587/2316 | 529/771 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
UTY_chrY_13243385_13485033 | 13323631 | C | CA | frameshift_variant | HIGH | NA19055.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0068 | 1 | 126 | 0.0079 | 1 | c.319 others(5): Show |
p.Cys others(6): Show |
UTY | ENSG00000183878.16 | transcript | ENST00000545955.6 | protein_coding | 21/30 | 3567/6174 | 3199/4335 | 1067/1444 | chrY | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843202 | A | AG | frameshift_variant others(1): Show |
HIGH | NA19055.hp1 | a0051 | a0051c0062 | a0051c0062t0013 | a0051c0062t0013g0009 | 1 | 341 | 0.0029 | 1 | c.-1d others(3): Show |
p.Met others(3): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 1/2 | 34/781 | 1/621 | 1/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
VCX_chrX_7838171_7849143 | 7843500 | T | TA | frameshift_variant | HIGH | NA19055.hp1 | a0051 | a0051c0062 | a0051c0062t0013 | a0051c0062t0013g0009 | 1 | 341 | 0.0029 | 1 | c.106 others(4): Show |
p.Thr others(4): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 140/781 | 107/621 | 36/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
VCX_chrX_7838171_7849143 | 7843742 | AG | A | frameshift_variant | HIGH | NA19055.hp1 | a0051 | a0051c0062 | a0051c0062t0013 | a0051c0062t0013g0009 | 1 | 341 | 0.0029 | -1 | c.349 others(4): Show |
p.Glu others(5): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 382/781 | 349/621 | 117/206 | INFO_REALIGN_3_PRIME | chrX | 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 | ||
XKRX_chrX_100908445_100933917 | 100914342 | A | AC | frameshift_variant | HIGH | NA19055.hp1 | a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0149 | 1 | 297 | 0.0034 | 1 | c.134 others(5): Show |
p.Val others(5): Show |
XKRX | ENSG00000182489.9 | transcript | ENST00000372956.3 | protein_coding | 3/3 | 1958/2856 | 1345/1350 | 449/449 | chrX | TogoVar | ||
XKRX_chrX_100908445_100933917 | 100914370 | A | AG | frameshift_variant | HIGH | NA19055.hp1 | a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0149 | 1 | 297 | 0.0034 | 1 | c.131 others(5): Show |
p.Phe others(5): Show |
XKRX | ENSG00000182489.9 | transcript | ENST00000372956.3 | protein_coding | 3/3 | 1930/2856 | 1317/1350 | 439/449 | chrX | TogoVar | ||
ZDHHC11B_chr5_705355_789729 | 766918 | A | C | start_lost others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
a0001a0021 | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(86): Show | a0001c0001t0001g0003a0001c0001t0001g0062a0001c0001t0001g0063others(207): Show | 215 | 271 | 0.7934 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 4/14 | 293/3342 | 2/1116 | 1/371 | chr5 | TogoVar | ||
ZFYVE19_chr15_40802089_40820084 | 40807701 | T | TGGGGC | frameshift_variant | HIGH | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(115): Show |
a0002a0005a0006others(1): Show | a0002c0002a0002c0016a0002c0017others(3): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(8): Show | a0002c0002t0003g0002a0002c0002t0003g0007a0002c0002t0003g0011others(23): Show | 118 | 382 | 0.3089 | 5 | c.118 others(12): Show |
p.Arg others(4): Show |
ZFYVE19 | ENSG00000166140.17 | transcript | ENST00000355341.8 | protein_coding | 1/11 | 624/2775 | 123/1416 | 41/471 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
ZNF626_chr19_20614939_20666571 | 20624327 | GGCTTTGC others(160): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0000a0004 | a0000c0001a0000c0004a0000c0005others(9): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0003others(50): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0014others(254): Show | 294 | 378 | 0.7778 | -167 | c.138 others(9): Show |
p.Cys others(5): Show |
ZNF626 | ENSG00000188171.17 | transcript | ENST00000601440.6 | protein_coding | 4/4 | 1674/6063 | 1383/1587 | 461/528 | chr19 | TogoVar | ||
ZNF718_chr4_119501_169162 | 127124 | GAAAATTT others(6135): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(159): Show |
a0001 | a0001c0001a0001c0009a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(117): Show | 162 | 330 | 0.4909 | -6142 | c.3+2 others(15): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |