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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(16): Show | 164 | 404 | 0.4059 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | TogoVar | ||
DZANK1_chr20_18378367_18472030 | 18412855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0285a0001c0001t0001g0293a0001c0001t0001g0333others(196): Show | 213 | 374 | 0.5695 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | TogoVar | ||||||
EBLN2_chr3_73056659_73068337 | 73062330 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0002a0005a0006 | a0002c0002a0002c0009a0005c0006others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0009g0000others(8): Show | 114 | 428 | 0.2664 | 1 | c.250 others(4): Show |
p.Arg others(4): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1/1 | 674/1679 | 251/819 | 84/272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
EFCAB2_chr1_244964682_245092837 | 244970321 | T | TCCTCC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0024others(112): Show | 115 | 290 | 0.3966 | 5 | c.-90 others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 110011233 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(44): Show |
a0003a0013a0021 | a0003c0003a0013c0015a0021c0031 | a0003c0003t0005a0003c0003t0008a0003c0003t0018others(4): Show | a0003c0003t0005g0002a0003c0003t0005g0003a0003c0003t0005g0014others(43): Show | 47 | 388 | 0.1211 | 1 | c.340 others(5): Show |
p.Gln others(6): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 24/24 | 3860/6388 | 3407/3624 | 1136/1207 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
EHBP1L1_chr11_65571053_65597650 | 65582454 | CCCAGAGA others(4): Show |
C | frameshift_variant | HIGH | NA18978.hp2 | a0015 | a0015c0024 | a0015c0024t0001 | a0015c0024t0001g0121 | 1 | 412 | 0.0024 | -11 | c.178 others(20): Show |
p.Pro others(5): Show |
EHBP1L1 | ENSG00000173442.13 | transcript | ENST00000309295.9 | protein_coding | 9/19 | 2033/5170 | 1783/4572 | 595/1523 | chr11 | TogoVar | ||
EIF2S3_chrX_24049956_24083810 | 24071680 | A | AG | frameshift_variant | HIGH | NA18978.hp1 | a0005 | a0005c0006 | a0005c0006t0025 | a0005c0006t0025g0060 | 1 | 294 | 0.0034 | 1 | c.113 others(5): Show |
p.Arg others(5): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 10/12 | 1150/3457 | 1137/1419 | 379/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
EIF2S3_chrX_24049956_24083810 | 24073250 | GA | G | frameshift_variant | HIGH | NA18978.hp1 | a0005 | a0005c0006 | a0005c0006t0025 | a0005c0006t0025g0060 | 1 | 294 | 0.0034 | -1 | c.134 others(5): Show |
p.Lys others(5): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 11/12 | 1360/3457 | 1347/1419 | 449/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ELOA2_chr18_47027527_47040621 | 47033546 | GTCTT | G | frameshift_variant | HIGH | NA18945.hp2 NA18954.hp1 NA18978.hp2 others(3): Show |
a0007 | a0007c0006 | a0007c0006t0004 | a0007c0006t0004g0000 | 6 | 448 | 0.0134 | -4 | c.171 others(13): Show |
p.Lys others(5): Show |
ELOA2 | ENSG00000206181.7 | transcript | ENST00000332567.6 | protein_coding | 1/1 | 2075/3095 | 1715/2262 | 572/753 | chr18 | TogoVar | ||
EOGT_chr3_68970225_69018684 | 69007823 | T | A | splice_acceptor_variant others(1): Show |
HIGH | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 444 | 0.0023 | 0 | c.312 others(5): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 5/17 | chr3 | TogoVar | ||||||
FAM110C_chr2_33814_51505 | 46307 | C | CG | frameshift_variant | HIGH | NA18947.hp2 NA18976.hp2 NA18978.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0003 | a0003c0003t0001g0017a0003c0003t0002g0033a0003c0003t0003g0018 | 7 | 442 | 0.0158 | 1 | c.78d others(3): Show |
p.Asp others(4): Show |
FAM110C | ENSG00000184731.6 | transcript | ENST00000327669.5 | protein_coding | 1/2 | 198/3880 | 78/966 | 26/321 | chr2 | TogoVar | ||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(276): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0122others(274): Show | 279 | 370 | 0.7541 | 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 |
a0002a0004a0006others(10): Show | a0002c0002a0002c0045a0004c0004others(13): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0018others(16): Show | a0002c0002t0002g0002a0002c0002t0002g0074a0002c0002t0002g0076others(20): Show | 155 | 422 | 0.3673 | 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 | ||
FLNA_chrX_154343531_154379634 | 154364847 | G | GC | frameshift_variant | HIGH | NA18978.hp2 | a0024 | a0024c0015 | a0024c0015t0008 | a0024c0015t0008g0032 | 1 | 279 | 0.0036 | 1 | c.180 others(5): Show |
p.Ala others(5): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 12/48 | 2046/8507 | 1801/7944 | 601/2647 | chrX | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154366031 | A | AAC | frameshift_variant | HIGH | NA18978.hp2 | a0024 | a0024c0015 | a0024c0015t0008 | a0024c0015t0008g0032 | 1 | 279 | 0.0036 | 2 | c.142 others(11): Show |
p.Gly others(5): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 9/48 | 1666/8507 | 1421/7944 | 474/2647 | chrX | TogoVar | ||
FMO2_chr1_171180300_171217686 | 171208951 | C | T | stop_gained | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(346): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(195): Show | 349 | 366 | 0.9536 | 0 | c.141 others(4): Show |
p.Gln others(4): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1480/5215 | 1414/1608 | 472/535 | chr1 | TogoVar | ||
FMR1_chrX_147906919_147956125 | 147936514 | AG | A | frameshift_variant | HIGH | NA18978.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0056 | 1 | 304 | 0.0033 | -1 | c.893 others(4): Show |
p.Gly others(5): Show |
FMR1 | ENSG00000102081.16 | transcript | ENST00000370475.9 | protein_coding | 10/17 | 1154/4441 | 893/1899 | 298/632 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(333): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(24): Show | 336 | 384 | 0.8750 | -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 | |
FUZ_chr19_49801866_49818292 | 49807343 | C | CTCATCTT others(3): Show |
frameshift_variant others(1): Show |
HIGH | NA18978.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0080 | 1 | 410 | 0.0024 | 10 | c.105 others(19): Show |
p.Glu others(5): Show |
FUZ | ENSG00000010361.14 | transcript | ENST00000313777.9 | protein_coding | 11/11 | 1250/1728 | 1064/1257 | 355/418 | chr19 | TogoVar | ||
GAB4_chr22_16956936_17013222 | 16988159 | C | A | stop_gained | HIGH | HG00280.hp1 HG00544.hp2 HG00558.hp2 others(145): Show |
a0002a0005 | a0002c0002a0002c0008a0002c0013others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0002a0002c0002t0001g0005a0002c0002t0001g0007others(74): Show | 148 | 430 | 0.3442 | 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 | ||
GAGE12F_chrX_49555842_49573205 | 49565545 | T | TA | frameshift_variant others(1): Show |
HIGH | NA18978.hp2 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0088 | 1 | 99 | 0.0101 | 1 | c.256 others(8): Show |
p.Cys others(4): Show |
GAGE12F | ENSG00000236362.9 | transcript | ENST00000440137.2 | protein_coding | 4/5 | 373/561 | 257/354 | 86/117 | chrX | TogoVar | ||
GDPD4_chr11_77211558_77306686 | 77243743 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show |
a0003a0004a0006others(1): Show | a0003c0003a0004c0004a0006c0006others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0042a0003c0003t0001g0055a0003c0003t0001g0073others(79): Show | 84 | 350 | 0.2400 | 1 | c.119 others(5): Show |
p.Ile others(5): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/17 | 1526/2617 | 1191/1563 | 397/520 | chr11 | TogoVar | ||
GJC3_chr7_99918266_99934620 | 99929620 | T | C | start_lost | HIGH | NA18978.hp1 NA19000.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0023 | 2 | 392 | 0.0051 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
GJC3 | ENSG00000176402.6 | transcript | ENST00000312891.3 | protein_coding | 1/2 | 1/1119 | 1/840 | 1/279 | chr7 | TogoVar | ||
GK3_chr4_165272807_165284704 | 165278433 | G | A | stop_gained | HIGH | NA18978.hp2 | a0013 | a0013c0023 | a0013c0023t0001 | a0013c0023t0001g0000 | 1 | 384 | 0.0026 | 0 | c.121 others(4): Show |
p.Arg others(4): Show |
GK3 | ENSG00000229894.5 | transcript | ENST00000505354.3 | protein_coding | 1/1 | 1272/1898 | 1213/1662 | 405/553 | chr4 | TogoVar | ||
GLT6D1_chr9_135618648_135644540 | 135624500 | CA | C | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(84): Show |
a0002a0005a0006others(1): Show | a0002c0003a0002c0004a0002c0007others(5): Show | a0002c0003t0001a0002c0004t0003a0002c0004t0007others(7): Show | a0002c0003t0001g0009a0002c0003t0001g0014a0002c0003t0001g0019others(58): Show | 87 | 436 | 0.1995 | -1 | c.427 others(4): Show |
p.Trp others(5): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 5/5 | 681/1534 | 427/831 | 143/276 | chr9 | TogoVar | ||
GNRH2_chr20_3038622_3050747 | 3045699 | A | AGCCCC | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002 | a0000c0002t0001g0002a0000c0002t0001g0005a0000c0002t0002g0002others(1): Show | 101 | 446 | 0.2265 | 5 | c.319 others(12): Show |
p.Ser others(5): Show |
GNRH2 | ENSG00000125787.11 | transcript | ENST00000359100.6 | protein_coding | 4/4 | 375/404 | 324/342 | 108/113 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
GOLGA6L1_chr15_23122066_23141822 | 23136652 | AGGTGGGG others(46): Show |
A | frameshift_variant | HIGH | NA18978.hp2 | a0034 | a0034c0071 | a0034c0071t0001 | a0034c0071t0001g0133 | 1 | 204 | 0.0049 | -53 | c.27_ others(58): Show |
p.Thr others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 170/3822 | 27/2007 | 9/668 | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466823 | T | C | stop_lost others(1): Show |
HIGH | HG00597.hp2 HG00673.hp2 HG02027.hp1 others(27): Show |
a0000 | a0000c0008a0000c0010a0000c0012others(9): Show | a0000c0008t0001a0000c0010t0002a0000c0012t0001others(9): Show | a0000c0008t0001g0002a0000c0008t0001g0012a0000c0008t0001g0018others(16): Show | 30 | 226 | 0.1327 | 0 | c.256 others(4): Show |
p.Ter others(11): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2654/4401 | 2563/2565 | 855/854 | chr15 | TogoVar | ||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(82): Show | 426 | 448 | 0.9509 | 0 | c.418 others(3): Show |
p.Arg others(4): Show |
GPR33 | ENSG00000214943.5 | transcript | ENST00000399285.5 | protein_coding | 2/2 | 567/1240 | 418/1002 | 140/333 | chr14 | TogoVar | ||
GPR78_chr4_8575392_8595023 | 8582572 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG02080.hp2 HG04115.hp1 others(16): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0002a0004c0004t0003others(8): Show | a0004c0004t0001g0009a0004c0004t0001g0175a0004c0004t0002g0001others(15): Show | 19 | 462 | 0.0411 | 1 | c.712 others(4): Show |
p.Arg others(5): Show |
GPR78 | ENSG00000155269.12 | transcript | ENST00000382487.5 | protein_coding | 2/3 | 1304/4343 | 713/1092 | 238/363 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
H2BW2_chrX_104034956_104047454 | 104040193 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show |
a0002a0004 | a0002c0002a0002c0007a0004c0009 | a0002c0002t0001a0002c0002t0002a0002c0007t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0013others(4): Show | 112 | 332 | 0.3374 | 0 | c.199 others(3): Show |
p.Gln others(3): Show |
H2BW2 | ENSG00000101812.15 | transcript | ENST00000675318.3 | protein_coding | 1/4 | 238/870 | 199/447 | 67/148 | chrX | TogoVar | ||
HCFC1_chrX_153942557_153976818 | 153956350 | G | GC | frameshift_variant | HIGH | NA18978.hp2 | a0012 | a0012c0025 | a0012c0025t0001 | a0012c0025t0001g0064 | 1 | 268 | 0.0037 | 1 | c.269 others(5): Show |
p.His others(5): Show |
HCFC1 | ENSG00000172534.14 | transcript | ENST00000310441.12 | protein_coding | 16/26 | 3674/8876 | 2696/6108 | 899/2035 | chrX | TogoVar | ||
HEATR4_chr14_73473484_73563947 | 73529735 | GTGTGCTA others(27720): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(93): Show |
a0001a0009a0016 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0008others(5): Show | a0001c0001t0002g0163a0001c0001t0002g0194a0001c0001t0002g0205others(92): Show | 96 | 368 | 0.2609 | -27727 | c.-15 others(17): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/18 | chr14 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94093616 | C | T | stop_gained | HIGH | NA18978.hp2 | a0014 | a0014c0026 | a0014c0026t0001 | a0014c0026t0001g0353 | 1 | 368 | 0.0027 | 0 | c.241 others(4): Show |
p.Arg others(4): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/20 | 2425/5809 | 2410/3480 | 804/1159 | chr11 | TogoVar | ||
HNRNPD_chr4_82347498_82378991 | 82356546 | C | CACCATAT others(6): Show |
frameshift_variant | HIGH | NA18978.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0158 | 1 | 332 | 0.0030 | 13 | c.978 others(20): Show |
p.Asp others(5): Show |
HNRNPD | ENSG00000138668.20 | transcript | ENST00000313899.12 | protein_coding | 7/9 | 1303/3068 | 990/1068 | 330/355 | chr4 | TogoVar | ||
HSD17B2_chr16_82030253_82103534 | 82098435 | A | G | stop_lost | HIGH | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(17): Show |
a0000 | a0000c0002a0000c0004 | a0000c0002t0001a0000c0002t0002a0000c0004t0001 | a0000c0002t0001g0306a0000c0002t0001g0308a0000c0002t0001g0314others(16): Show | 20 | 366 | 0.0546 | 0 | c.116 others(4): Show |
p.Ter others(11): Show |
HSD17B2 | ENSG00000086696.11 | transcript | ENST00000199936.9 | protein_coding | 5/5 | 1335/1434 | 1163/1164 | 388/387 | chr16 | TogoVar | ||
IQCM_chr4_149346709_149820843 | 149352043 | G | A | stop_gained | HIGH | NA18978.hp2 NA18985.hp2 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0048a0005c0007t0001g0212 | 2 | 252 | 0.0079 | 0 | c.141 others(4): Show |
p.Arg others(4): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 14/14 | 1744/2078 | 1414/1506 | 472/501 | chr4 | TogoVar | ||
KANK2_chr19_11159270_11202545 | 11193579 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG01169.hp1 HG01257.hp1 others(7): Show |
a0002a0004a0013 | a0002c0014a0002c0019a0004c0006others(2): Show | a0002c0014t0001a0002c0014t0007a0002c0019t0002others(5): Show | a0002c0014t0001g0197a0002c0014t0007g0196a0002c0019t0002g0344others(7): Show | 10 | 394 | 0.0254 | 1 | c.500 others(4): Show |
p.Thr others(5): Show |
KANK2 | ENSG00000197256.11 | transcript | ENST00000586659.6 | protein_coding | 4/13 | 839/5183 | 500/2556 | 167/851 | chr19 | TogoVar | ||
KCTD1_chr18_26449910_26553553 | 26547048 | T | TG | frameshift_variant | HIGH | HG00438.hp2 HG00621.hp2 HG00673.hp2 others(32): Show |
a0002 | a0002c0003a0002c0006a0002c0014others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(4): Show | a0002c0003t0001g0300a0002c0003t0001g0301a0002c0003t0001g0302others(32): Show | 35 | 338 | 0.1036 | 1 | c.148 others(5): Show |
p.Thr others(5): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1/5 | 1505/3448 | 1488/2598 | 496/865 | chr18 | TogoVar | ||
KIF25_chr6_167992671_168050091 | 168029510 | C | CTGACATG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(323): Show | 335 | 375 | 0.8933 | 76 | c.7_8 others(80): Show |
p.Lys others(4): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1881/3048 | 83/1155 | 28/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
KLHL15_chrX_23978720_24032186 | 23988472 | TC | T | frameshift_variant | HIGH | NA18978.hp1 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0024 | 1 | 286 | 0.0035 | -1 | c.126 others(5): Show |
p.Thr others(5): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4/4 | 1519/6272 | 1263/1815 | 421/604 | chrX | TogoVar | ||
KLHL15_chrX_23978720_24032186 | 23988520 | A | AT | frameshift_variant | HIGH | NA18978.hp1 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0024 | 1 | 286 | 0.0035 | 1 | c.121 others(5): Show |
p.Trp others(5): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4/4 | 1471/6272 | 1215/1815 | 405/604 | chrX | TogoVar | ||
KLHL15_chrX_23978720_24032186 | 23988705 | T | TG | frameshift_variant | HIGH | NA18978.hp1 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0024 | 1 | 286 | 0.0035 | 1 | c.103 others(5): Show |
p.His others(5): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4/4 | 1286/6272 | 1030/1815 | 344/604 | chrX | TogoVar | ||
KLHL15_chrX_23978720_24032186 | 23988716 | A | AT | frameshift_variant | HIGH | NA18978.hp1 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0024 | 1 | 286 | 0.0035 | 1 | c.101 others(5): Show |
p.Asp others(5): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4/4 | 1275/6272 | 1019/1815 | 340/604 | chrX | TogoVar | ||
KLHL15_chrX_23978720_24032186 | 23988746 | G | GA | frameshift_variant | HIGH | NA18978.hp1 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0024 | 1 | 286 | 0.0035 | 1 | c.989 others(4): Show |
p.Leu others(5): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4/4 | 1245/6272 | 989/1815 | 330/604 | chrX | TogoVar | ||
KLHL15_chrX_23978720_24032186 | 23989028 | A | AC | frameshift_variant others(1): Show |
HIGH | NA18978.hp1 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0024 | 1 | 286 | 0.0035 | 1 | c.707 others(8): Show |
p.Lys others(5): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4/4 | 963/6272 | 707/1815 | 236/604 | chrX | TogoVar | ||
KLK12_chr19_51024094_51040002 | 51031874 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(97): Show | 251 | 448 | 0.5603 | 0 | c.457 others(5): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(279): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0009a0001c0025others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(137): Show | 282 | 414 | 0.6812 | 1 | c.875 others(6): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KRT24_chr17_40692991_40708752 | 40701882 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(201): Show |
a0001a0010a0012 | a0001c0001a0001c0013a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0011others(54): Show | 204 | 424 | 0.4811 | -1 | c.666 others(4): Show |
p.Asn others(5): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/8 | 725/1883 | 666/1578 | 222/525 | chr17 | TogoVar | ||
KRTAP13-2_chr21_30366390_30377271 | 30371809 | A | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
a0002a0007a0008others(1): Show | a0002c0002a0007c0007a0008c0008others(1): Show | a0002c0002t0001a0007c0007t0001a0008c0008t0001others(1): Show | a0002c0002t0001g0000a0007c0007t0001g0000a0008c0008t0001g0000others(1): Show | 121 | 462 | 0.2619 | 0 | c.405 others(3): Show |
p.Cys others(4): Show |
KRTAP13-2 | ENSG00000182816.9 | transcript | ENST00000399889.4 | protein_coding | 1/1 | 463/882 | 405/528 | 135/175 | chr21 | TogoVar |