| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LCNL1_chr9_136977993_136990758 | 136984956 | C | CGGCCCCT others(31): Show |
frameshift_variant | HIGH | HG02717.hp2 | a0000 | a0000c0009 | a0000c0009t0001 | a0000c0009t0001g0005 | 1 | 382 | 0.0026 | 38 | c.459 others(45): Show |
p.Leu others(5): Show |
LCNL1 | ENSG00000214402.7 | transcript | ENST00000408973.3 | protein_coding | 3/3 | 1054/1836 | 460/495 | 154/164 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| LDHAL6A_chr11_18450856_18484601 | 18478866 | TTTAAAGT others(40): Show |
T | frameshift_variant others(1): Show |
HIGH | HG03017.hp1 | a0000 | a0000c0004 | a0000c0004t0053 | a0000c0004t0053g0015 | 1 | 420 | 0.0024 | -47 | c.999 others(54): Show |
p.Ter others(5): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 7/7 | 1824/2555 | 999/999 | 333/332 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| LDLRAD1_chr1_54002298_54023186 | 54009100 | CACCCAGG others(22): Show |
C | frameshift_variant others(1): Show |
HIGH | HG03017.hp2 | a0006 | a0006c0008 | a0006c0008t0008 | a0006c0008t0008g0072 | 1 | 400 | 0.0025 | -29 | c.471 others(36): Show |
p.Thr others(5): Show |
LDLRAD1 | ENSG00000203985.11 | transcript | ENST00000371360.2 | protein_coding | 6/6 | 573/2376 | 471/618 | 157/205 | chr1 | TogoVar | ||
| LENG9_chr19_54456732_54468778 | 54462799 | G | GACAAAGG others(4): Show |
frameshift_variant | HIGH | NA18984.hp2 | a0019 | a0019c0023 | a0019c0023t0002 | a0019c0023t0002g0000 | 1 | 421 | 0.0024 | 11 | c.727 others(18): Show |
p.Pro others(5): Show |
LENG9 | ENSG00000275183.2 | transcript | ENST00000611161.2 | protein_coding | 1/1 | 979/2047 | 727/1437 | 243/478 | chr19 | TogoVar | ||
| LEP_chr7_128236278_128262629 | 128254595 | C | CTTCTCTA others(7): Show |
frameshift_variant | HIGH | HG00741.hp1 | a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0002 | 1 | 395 | 0.0025 | 14 | c.337 others(21): Show |
p.His others(5): Show |
LEP | ENSG00000174697.5 | transcript | ENST00000308868.5 | protein_coding | 3/3 | 408/3427 | 351/504 | 117/167 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| LGALS8_chr1_236518982_236557981 | 236548073 | AG | A | frameshift_variant | HIGH | HG00323.hp1 HG01934.hp1 NA19004.hp2 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0011a0005c0006t0003g0222 | 5 | 450 | 0.0111 | -1 | c.867 others(4): Show |
p.Glu others(5): Show |
LGALS8 | ENSG00000116977.19 | transcript | ENST00000366584.9 | protein_coding | 10/10 | 1050/5957 | 867/954 | 289/317 | chr1 | TogoVar | ||
| LGALS9B_chr17_20444395_20472539 | 20467469 | A | ATC | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(248): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0025a0001c0026others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(161): Show | 251 | 433 | 0.5797 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
LGALS9B | ENSG00000170298.16 | transcript | ENST00000423676.8 | protein_coding | 1/11 | 70/1718 | 1/1071 | 1/356 | chr17 | TogoVar | ||
| LHX1_chr17_36932475_36949612 | 36938318 | AAGTGCTT others(7): Show |
A | frameshift_variant | HIGH | NA19001.hp2 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0002 | 1 | 385 | 0.0026 | -14 | c.122 others(21): Show |
p.Lys others(4): Show |
LHX1 | ENSG00000273706.5 | transcript | ENST00000614239.1 | protein_coding | 1/5 | 845/3425 | 122/1221 | 41/406 | chr17 | TogoVar | ||
| LHX3_chr9_136191250_136210128 | 136198710 | CTTGGAGC others(25): Show |
C | frameshift_variant | HIGH | HG02735.hp2 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0111 | 1 | 438 | 0.0023 | -32 | c.685 others(39): Show |
p.Arg others(5): Show |
LHX3 | ENSG00000107187.17 | transcript | ENST00000371748.10 | protein_coding | 5/6 | 832/2385 | 685/1194 | 229/397 | chr9 | TogoVar | ||
| LIAT1_chr17_405325_419666 | 413442 | T | TGGCCCCT others(54): Show |
frameshift_variant | HIGH | NA19090.hp1 | a0039 | a0039c0029 | a0039c0029t0001 | a0039c0029t0001g0019 | 1 | 434 | 0.0023 | 61 | c.604 others(68): Show |
p.Leu others(5): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 2/2 | 623/1841 | 605/1272 | 202/423 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| LIAT1_chr17_405325_419666 | 413611 | CCCCGACC others(22): Show |
C | frameshift_variant | HIGH | NA18987.hp1 | a0034 | a0034c0036 | a0034c0036t0001 | a0034c0036t0001g0003 | 1 | 434 | 0.0023 | -29 | c.772 others(36): Show |
p.Asp others(5): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 2/2 | 790/1841 | 772/1272 | 258/423 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| LIAT1_chr17_405325_419666 | 413647 | C | CCCCGAGG others(115): Show |
frameshift_variant others(1): Show |
HIGH | NA19072.hp1 | a0032 | a0032c0041 | a0032c0041t0001 | a0032c0041t0001g0038 | 1 | 434 | 0.0023 | 122 | c.806 others(129): Show |
p.His others(5): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 2/2 | 825/1841 | 807/1272 | 269/423 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| LILRA2_chr19_54568790_54595287 | 54575464 | CCACGGGG others(6): Show |
C | frameshift_variant | HIGH | NA19075.hp2 | a0021 | a0021c0024 | a0021c0024t0001 | a0021c0024t0001g0070 | 1 | 427 | 0.0023 | -13 | c.865 others(20): Show |
p.His others(5): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 5/8 | 954/4482 | 865/1452 | 289/483 | chr19 | TogoVar | ||
| LILRA2_chr19_54568790_54595287 | 54587336 | C | CTGGAGGG others(16): Show |
frameshift_variant others(1): Show |
HIGH | NA18992.hp2 | a0019 | a0019c0028 | a0019c0028t0046 | a0019c0028t0046g0053 | 1 | 427 | 0.0023 | 23 | c.144 others(32): Show |
p.Arg others(5): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 8/8 | 1532/4482 | 1443/1452 | 481/483 | chr19 | TogoVar | ||
| LILRA5_chr19_54302070_54318166 | 54312061 | A | AGGGTCCC others(64): Show |
frameshift_variant others(1): Show |
HIGH | NA18954.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0059 | 1 | 409 | 0.0024 | 71 | c.141 others(78): Show |
p.Leu others(4): Show |
LILRA5 | ENSG00000187116.14 | transcript | ENST00000432233.8 | protein_coding | 4/7 | 358/1390 | 211/900 | 71/299 | chr19 | TogoVar | ||
| LILRA6_chr19_54231590_54247790 | 54240485 | C | CCCCCGTG others(19747): Show |
frameshift_variant others(1): Show |
HIGH | HG03471.hp1 | a0056 | a0056c0055 | a0056c0055t0004 | a0056c0055t0004g0136 | 1 | 450 | 0.0022 | 19754 | c.104 others(19763): Show |
p.Trp others(5): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 6/8 | 1085/3848 | 1046/1446 | 349/481 | chr19 | TogoVar | ||
| LILRA6_chr19_54231590_54247790 | 54242306 | GGGCCCTA others(13): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18522.hp1 | a0035 | a0035c0053 | a0035c0053t0060 | a0035c0053t0060g0186 | 1 | 450 | 0.0022 | -20 | c.71- others(28): Show |
p.Gly others(4): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 3/8 | 113/3848 | 71/1446 | 24/481 | chr19 | TogoVar | ||
| LILRB3_chr19_54211278_54228007 | 54220191 | A | AGCCTCCA others(38952): Show |
frameshift_variant others(1): Show |
HIGH | HG03486.hp2 | a0027 | a0027c0041 | a0027c0041t0001 | a0027c0041t0001g0111 | 1 | 455 | 0.0022 | 38959 | c.127 others(38968): Show |
p.Ser others(5): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | 1303/2742 | 1272/1896 | 424/631 | chr19 | TogoVar | ||
| LILRB3_chr19_54211278_54228007 | 54220541 | T | TTCCAGGG others(19740): Show |
frameshift_variant others(1): Show |
HIGH | HG00741.hp2 | a0051 | a0051c0066 | a0051c0066t0002 | a0051c0066t0002g0133 | 1 | 455 | 0.0022 | 19747 | c.124 others(19756): Show |
p.His others(5): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1275/2742 | 1244/1896 | 415/631 | chr19 | TogoVar | ||
| LILRB3_chr19_54211278_54228007 | 54222365 | G | GTGTCATG others(19198): Show |
frameshift_variant others(1): Show |
HIGH | HG02886.hp1 | a0036 | a0036c0069 | a0036c0069t0020 | a0036c0069t0020g0050 | 1 | 455 | 0.0022 | 19205 | c.267 others(19212): Show |
p.Gln others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 3/13 | 298/2742 | 267/1896 | 89/631 | chr19 | TogoVar | ||
| LITAFD_chr16_8877351_8890350 | 8885231 | T | TGGCATTC others(4): Show |
frameshift_variant | HIGH | HG04228.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0002 | 1 | 406 | 0.0025 | 11 | c.155 others(18): Show |
p.Met others(4): Show |
LITAFD | ENSG00000283516.2 | transcript | ENST00000636296.2 | protein_coding | 4/4 | 426/544 | 156/219 | 52/72 | chr16 | TogoVar | ||
| LLGL1_chr17_18220635_18249875 | 18237474 | G | GGCTCAGG others(4): Show |
frameshift_variant | HIGH | HG02895.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0081 | 1 | 444 | 0.0023 | 11 | c.161 others(22): Show |
p.Val others(5): Show |
LLGL1 | ENSG00000131899.13 | transcript | ENST00000316843.9 | protein_coding | 14/23 | 1666/4212 | 1618/3195 | 540/1064 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| LLGL2_chr17_75520697_75580209 | 75568800 | T | TGACCCCA others(10): Show |
frameshift_variant | HIGH | NA18999.hp2 | a0023 | a0023c0026 | a0023c0026t0001 | a0023c0026t0001g0151 | 1 | 382 | 0.0026 | 17 | c.128 others(26): Show |
p.Gln others(5): Show |
LLGL2 | ENSG00000073350.14 | transcript | ENST00000392550.8 | protein_coding | 12/26 | 1460/3553 | 1301/3063 | 434/1020 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| LMAN1_chr18_59322823_59364265 | 59355523 | CGACCTCT others(10): Show |
C | frameshift_variant | HIGH | HG03704.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0075 | 1 | 386 | 0.0026 | -17 | c.333 others(24): Show |
p.Val others(5): Show |
LMAN1 | ENSG00000074695.6 | transcript | ENST00000251047.6 | protein_coding | 2/13 | 370/4824 | 333/1533 | 111/510 | chr18 | TogoVar | ||
| LMBR1L_chr12_49092139_49115847 | 49098003 | G | GGGTCAGC others(30): Show |
frameshift_variant others(1): Show |
HIGH | HG02129.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0066 | 1 | 380 | 0.0026 | 37 | c.134 others(46): Show |
p.Thr others(5): Show |
LMBR1L | ENSG00000139636.16 | transcript | ENST00000267102.13 | protein_coding | 16/17 | 1634/2295 | 1342/1470 | 448/489 | chr12 | TogoVar | ||
| LMOD3_chr3_69101065_69127595 | 69118722 | TGTGACGA others(6): Show |
T | frameshift_variant | HIGH | NA18986.hp1 | a0000 | a0000c0019 | a0000c0019t0015 | a0000c0019t0015g0120 | 1 | 428 | 0.0023 | -13 | c.162 others(22): Show |
p.Asn others(5): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/3 | 1841/4922 | 1620/1683 | 540/560 | chr3 | TogoVar | ||
| LMTK3_chr19_48480271_48516835 | 48498801 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(204): Show |
a0000a0002a0003 | a0000c0001a0000c0005a0000c0006others(19): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0004others(24): Show | a0000c0001t0001g0002a0000c0001t0001g0003a0000c0001t0001g0004others(180): Show | 207 | 314 | 0.6592 | 1 | c.226 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2526/5144 | 2267/4383 | 756/1460 | chr19 | TogoVar | ||
| LMTK3_chr19_48480271_48516835 | 48498893 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(49): Show |
a0000a0002a0003others(1): Show | a0000c0004a0000c0029a0000c0030others(9): Show | a0000c0004t0001a0000c0004t0006a0000c0029t0001others(11): Show | a0000c0004t0001g0039a0000c0004t0001g0050a0000c0004t0001g0106others(48): Show | 52 | 314 | 0.1656 | 1 | c.217 others(5): Show |
p.Ala others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2434/5144 | 2175/4383 | 725/1460 | chr19 | TogoVar | ||
| LMTK3_chr19_48480271_48516835 | 48499794 | T | TG | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00621.hp1 others(8): Show |
a0003a0010 | a0003c0008a0003c0009a0003c0039others(1): Show | a0003c0008t0001a0003c0009t0001a0003c0039t0001others(1): Show | a0003c0008t0001g0082a0003c0008t0001g0094a0003c0008t0001g0157others(8): Show | 11 | 314 | 0.0350 | 1 | c.127 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 1533/5144 | 1274/4383 | 425/1460 | chr19 | TogoVar | ||
| LOC101059915_chrX_71662546_71676527 | 71667810 | T | TC | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.9du others(2): Show |
p.Thr others(3): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 268/1990 | 10/1557 | 4/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71667861 | G | GA | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.59d others(3): Show |
p.Gln others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 318/1990 | 60/1557 | 20/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71667900 | C | CG | frameshift_variant | HIGH | HG01993.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0001 | 1 | 340 | 0.0029 | 1 | c.101 others(4): Show |
p.Asp others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 360/1990 | 102/1557 | 34/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71667902 | G | GT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.99_ others(7): Show |
p.Gly others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 358/1990 | 100/1557 | 34/518 | chrX | TogoVar | ||
| LOC101059915_chrX_71662546_71676527 | 71667932 | T | TG | frameshift_variant | HIGH | NA19006.hp1 | a0009 | a0009c0019 | a0009c0019t0007 | a0009c0019t0007g0001 | 1 | 340 | 0.0029 | 1 | c.135 others(4): Show |
p.Gln others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 394/1990 | 136/1557 | 46/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71667941 | G | GC | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.139 others(4): Show |
p.Arg others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 398/1990 | 140/1557 | 47/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71667947 | T | TC | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.144 others(8): Show |
p.Gly others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 403/1990 | 145/1557 | 49/518 | chrX | TogoVar | ||
| LOC101059915_chrX_71662546_71676527 | 71667956 | T | TA | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.155 others(4): Show |
p.Lys others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 414/1990 | 156/1557 | 52/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71668030 | AG | A | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | -1 | c.230 others(4): Show |
p.Gly others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 488/1990 | 230/1557 | 77/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71668071 | A | AC | frameshift_variant | HIGH | HG01175.hp1 HG01175.hp2 NA18994.hp1 others(1): Show |
a0004 | a0004c0005a0004c0013 | a0004c0005t0001a0004c0013t0001 | a0004c0005t0001g0001a0004c0013t0001g0019 | 4 | 340 | 0.0118 | 1 | c.272 others(4): Show |
p.Val others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 531/1990 | 273/1557 | 91/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71668074 | C | CT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.271 others(8): Show |
p.Pro others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 530/1990 | 272/1557 | 91/518 | chrX | TogoVar | ||
| LOC101059915_chrX_71662546_71676527 | 71668081 | A | ACG | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 2 | c.279 others(9): Show |
p.Asp others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 539/1990 | 281/1557 | 94/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71668127 | G | GT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.324 others(8): Show |
p.Pro others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 583/1990 | 325/1557 | 109/518 | chrX | TogoVar | ||
| LOC101059915_chrX_71662546_71676527 | 71668226 | C | CGA | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 2 | c.424 others(9): Show |
p.Gly others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 683/1990 | 425/1557 | 142/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71668295 | C | CT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.492 others(8): Show |
p.His others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 751/1990 | 493/1557 | 165/518 | chrX | TogoVar | ||
| LOC101059915_chrX_71662546_71676527 | 71668399 | G | GC | frameshift_variant | HIGH | NA19006.hp1 | a0009 | a0009c0019 | a0009c0019t0007 | a0009c0019t0007g0001 | 1 | 340 | 0.0029 | 1 | c.600 others(4): Show |
p.Ala others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 859/1990 | 601/1557 | 201/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71668409 | G | GT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.606 others(8): Show |
p.Leu others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 865/1990 | 607/1557 | 203/518 | chrX | TogoVar | ||
| LOC101059915_chrX_71662546_71676527 | 71668450 | A | ACT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 2 | c.648 others(9): Show |
p.Leu others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 908/1990 | 650/1557 | 217/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71668502 | GC | G | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | -1 | c.702 others(4): Show |
p.Gly others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 960/1990 | 702/1557 | 234/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71668534 | G | GT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.731 others(8): Show |
p.Gly others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 990/1990 | 732/1557 | 244/518 | chrX | TogoVar | ||
| LOC101059915_chrX_71662546_71676527 | 71668593 | A | AG | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.790 others(8): Show |
p.Ile others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 1049/1990 | 791/1557 | 264/518 | chrX | TogoVar |