| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KDM5C_chrX_53187158_53230207 | 53215848 | G | GT | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0046 | 1 | 241 | 0.0042 | 1 | c.909 others(4): Show |
p.Pro others(5): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 7/26 | 1227/5810 | 909/4683 | 303/1560 | chrX | TogoVar | ||
| KDM5C_chrX_53187158_53230207 | 53217187 | TG | T | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0046 | 1 | 241 | 0.0042 | -1 | c.612 others(4): Show |
p.Lys others(5): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 5/26 | 930/5810 | 612/4683 | 204/1560 | chrX | TogoVar | ||
| KDM5C_chrX_53187158_53230207 | 53218346 | TC | T | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0046 | 1 | 241 | 0.0042 | -1 | c.280 others(4): Show |
p.Glu others(4): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 3/26 | 598/5810 | 280/4683 | 94/1560 | chrX | TogoVar | ||
| KDM5C_chrX_53187158_53230207 | 53220845 | C | CT | frameshift_variant | HIGH | NA19058.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0013 | 1 | 241 | 0.0042 | 1 | c.221 others(4): Show |
p.Leu others(4): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 2/26 | 539/5810 | 221/4683 | 74/1560 | chrX | TogoVar | ||
| KDM5C_chrX_53187158_53230207 | 53220851 | C | CA | frameshift_variant | HIGH | NA19058.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0013 | 1 | 241 | 0.0042 | 1 | c.215 others(4): Show |
p.Asn others(4): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 2/26 | 533/5810 | 215/4683 | 72/1560 | chrX | TogoVar | ||
| KDM5C_chrX_53187158_53230207 | 53220915 | T | TC | frameshift_variant others(1): Show |
HIGH | NA19058.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0013 | 1 | 241 | 0.0042 | 1 | c.151 others(4): Show |
p.Asp others(4): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 2/26 | 469/5810 | 151/4683 | 51/1560 | chrX | TogoVar | ||
| KDM5D_chrY_19698865_19749726 | 19732119 | TG | T | frameshift_variant | HIGH | NA19072.hp1 | a0006 | a0006c0005 | a0006c0005t0004 | a0006c0005t0004g0059 | 1 | 131 | 0.0076 | -1 | c.113 others(5): Show |
p.Gln others(5): Show |
KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 10/27 | 1213/6825 | 1138/4620 | 380/1539 | chrY | TogoVar | ||
| KDM5D_chrY_19698865_19749726 | 19732135 | A | AG | frameshift_variant | HIGH | NA19072.hp1 | a0006 | a0006c0005 | a0006c0005t0004 | a0006c0005t0004g0059 | 1 | 131 | 0.0076 | 1 | c.112 others(10): Show |
p.Phe others(5): Show |
KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 10/27 | 1197/6825 | 1122/4620 | 374/1539 | chrY | TogoVar | ||
| KDM6A_chrX_44868188_45117779 | 45062736 | GC | G | frameshift_variant | HIGH | NA19055.hp1 | a0006 | a0006c0008 | a0006c0008t0008 | a0006c0008t0008g0156 | 1 | 199 | 0.0050 | -1 | c.167 others(5): Show |
p.Gln others(5): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 16/30 | 2036/6094 | 1672/4362 | 558/1453 | chrX | TogoVar | ||
| KDM6A_chrX_44868188_45117779 | 45063596 | G | GC | frameshift_variant | HIGH | NA19083.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0037 | 1 | 199 | 0.0050 | 1 | c.186 others(5): Show |
p.Asn others(5): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 17/30 | 2225/6094 | 1861/4362 | 621/1453 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| KDM6B_chr17_7829217_7859796 | 7847163 | A | AC | frameshift_variant | HIGH | HG00639.hp2 HG01496.hp2 HG01928.hp2 others(17): Show |
a0009a0016a0030others(5): Show | a0009c0018a0009c0045a0009c0046others(12): Show | a0009c0018t0002a0009c0018t0004a0009c0045t0001others(13): Show | a0009c0018t0002g0007a0009c0018t0002g0036a0009c0018t0002g0232others(17): Show | 20 | 388 | 0.0516 | 1 | c.974 others(4): Show |
p.Gly others(5): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 11/24 | 1496/6728 | 975/4932 | 325/1643 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| KDM6B_chr17_7829217_7859796 | 7847818 | A | AC | frameshift_variant | HIGH | HG00544.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
a0005a0009a0016others(8): Show | a0005c0014a0005c0019a0005c0049others(17): Show | a0005c0014t0001a0005c0019t0003a0005c0019t0004others(19): Show | a0005c0014t0001g0104a0005c0014t0001g0277a0005c0014t0001g0299others(26): Show | 29 | 388 | 0.0747 | 1 | c.153 others(5): Show |
p.Arg others(5): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 12/24 | 2059/6728 | 1538/4932 | 513/1643 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| KDM6B_chr17_7829217_7859796 | 7849177 | C | CG | frameshift_variant | HIGH | HG04115.hp2 HG04204.hp1 HG04204.hp2 others(4): Show |
a0005a0023a0040others(2): Show | a0005c0049a0005c0061a0023c0027others(3): Show | a0005c0049t0001a0005c0061t0002a0023c0027t0002others(3): Show | a0005c0049t0001g0274a0005c0061t0002g0163a0023c0027t0002g0153others(4): Show | 7 | 388 | 0.0180 | 1 | c.289 others(5): Show |
p.Val others(5): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 12/24 | 3415/6728 | 2894/4932 | 965/1643 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| KIF11_chr10_92588130_92660395 | 92649866 | CCCATCAA others(15): Show |
C | frameshift_variant | HIGH | NA19001.hp2 | a0006 | a0006c0008 | a0006c0008t0004 | a0006c0008t0004g0224 | 1 | 352 | 0.0028 | -22 | c.280 others(31): Show |
p.Pro others(5): Show |
KIF11 | ENSG00000138160.7 | transcript | ENST00000260731.5 | protein_coding | 20/22 | 3049/5016 | 2803/3171 | 935/1056 | chr10 | 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 | |
| KIF25_chr6_167992671_168050091 | 168029510 | C | CTGACATG others(145): Show |
frameshift_variant others(1): Show |
HIGH | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0361 | 1 | 375 | 0.0027 | 152 | c.-70 others(158): 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 | |
| KIF25_chr6_167992671_168050091 | 168029510 | CTGACATG others(69): Show |
C | frameshift_variant | HIGH | HG01993.hp2 | a0011 | a0011c0027 | a0011c0027t0050 | a0011c0027t0050g0070 | 1 | 375 | 0.0027 | -76 | c.7_8 others(80): Show |
p.Trp others(3): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1805/3048 | 7/1155 | 3/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| KIF25_chr6_167992671_168050091 | 168029570 | G | GTCCTGGC others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG03834.hp2 | a0001 | a0001c0018 | a0001c0018t0036 | a0001c0018t0036g0184 | 1 | 375 | 0.0027 | 76 | c.60_ others(81): Show |
p.Val others(4): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1859/3048 | 61/1155 | 21/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| KIF26A_chr14_104133587_104185894 | 104177436 | C | CG | frameshift_variant | HIGH | HG00673.hp2 HG01099.hp2 HG01169.hp2 others(18): Show |
a0002a0012a0013others(1): Show | a0002c0013a0002c0019a0002c0023others(11): Show | a0002c0013t0001a0002c0013t0002a0002c0013t0003others(16): Show | a0002c0013t0001g0360a0002c0013t0002g0129a0002c0013t0003g0224others(18): Show | 21 | 374 | 0.0562 | 1 | c.465 others(5): Show |
p.Thr others(6): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 12/15 | 4789/6889 | 4653/5649 | 1551/1882 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
| KIF26A_chr14_104133587_104185894 | 104179735 | A | AAGAGGCA others(52): Show |
frameshift_variant | HIGH | NA18969.hp1 | a0028 | a0028c0046 | a0028c0046t0001 | a0028c0046t0001g0209 | 1 | 374 | 0.0027 | 59 | c.559 others(68): Show |
p.Asp others(6): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 15/15 | 5731/6889 | 5595/5649 | 1865/1882 | chr14 | TogoVar | ||
| KIF4B_chr5_155008755_155023141 | 155014264 | T | TCTGAAAG others(19): Show |
frameshift_variant others(1): Show |
HIGH | HG03225.hp1 | a0011 | a0011c0030 | a0011c0030t0001 | a0011c0030t0001g0000 | 1 | 420 | 0.0024 | 26 | c.407 others(33): Show |
p.Asn others(5): Show |
KIF4B | ENSG00000226650.6 | transcript | ENST00000435029.6 | protein_coding | 1/1 | 538/4387 | 433/3705 | 145/1234 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| KIF4B_chr5_155008755_155023141 | 155016372 | A | AGCAGAAG others(9): Show |
frameshift_variant | HIGH | NA18992.hp2 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0000 | 1 | 420 | 0.0024 | 16 | c.252 others(25): Show |
p.Ser others(5): Show |
KIF4B | ENSG00000226650.6 | transcript | ENST00000435029.6 | protein_coding | 1/1 | 2641/4387 | 2536/3705 | 846/1234 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| KIR2DL3_chr19_54733513_54758052 | 54742226 | A | ACTCCCCC others(4): Show |
frameshift_variant | HIGH | NA18965.hp1 | a0013 | a0013c0024 | a0013c0024t0001 | a0013c0024t0001g0086 | 1 | 312 | 0.0032 | 11 | c.318 others(18): Show |
p.Gln others(5): Show |
KIR2DL3 | ENSG00000243772.8 | transcript | ENST00000342376.4 | protein_coding | 3/8 | 362/1592 | 329/1026 | 110/341 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| KIR3DL1_chr19_54811468_54835778 | 54825019 | ATGTTCTA others(6): Show |
A | frameshift_variant others(3): Show |
HIGH | NA20300.hp1 | a0021 | a0021c0031 | a0021c0031t0001 | a0021c0031t0001g0089 | 1 | 395 | 0.0025 | -13 | c.950 others(22): Show |
p.Gly others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 6/9 | 950/1335 | 317/444 | chr19 | TogoVar | |||
| KIR3DL1_chr19_54811468_54835778 | 54829965 | AAC | A | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | -2 | c.114 others(11): Show |
p.Thr others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 8/9 | 1178/1871 | 1145/1335 | 382/444 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| KISS1_chr1_204185341_204201491 | 204190483 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(118): Show |
a0000 | a0000c0002 | a0000c0002t0002a0000c0002t0004a0000c0002t0008others(1): Show | a0000c0002t0002g0001a0000c0002t0002g0008a0000c0002t0002g0020others(31): Show | 121 | 400 | 0.3025 | -1 | c.417 others(4): Show |
p.Ter others(5): Show |
KISS1 | ENSG00000170498.10 | transcript | ENST00000367194.5 | protein_coding | 3/3 | 571/714 | 417/417 | 139/138 | chr1 | TogoVar | ||
| KLC3_chr19_45335750_45356519 | 45350661 | ACT | A | frameshift_variant | HIGH | HG00597.hp2 NA18966.hp1 NA18992.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0016a0002c0004t0001g0042 | 5 | 434 | 0.0115 | -2 | c.129 others(11): Show |
p.Ser others(5): Show |
KLC3 | ENSG00000104892.17 | transcript | ENST00000391946.7 | protein_coding | 11/13 | 1402/1782 | 1297/1515 | 433/504 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| KLF16_chr19_1847399_1868579 | 1854587 | C | CG | frameshift_variant | HIGH | HG00438.hp2 HG00735.hp2 HG01099.hp2 others(23): Show |
a0000 | a0000c0004a0000c0005a0000c0009 | a0000c0004t0002a0000c0004t0004a0000c0004t0005others(5): Show | a0000c0004t0002g0075a0000c0004t0002g0081a0000c0004t0002g0083others(22): Show | 26 | 398 | 0.0653 | 1 | c.630 others(4): Show |
p.Gly others(5): Show |
KLF16 | ENSG00000129911.9 | transcript | ENST00000250916.6 | protein_coding | 2/2 | 712/2901 | 630/759 | 210/252 | chr19 | TogoVar | ||
| KLF4_chr9_107479852_107494769 | 107487806 | C | CGAGGGGC others(28): Show |
frameshift_variant others(1): Show |
HIGH | NA19075.hp1 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0032 | 1 | 428 | 0.0023 | 35 | c.553 others(42): Show |
p.Gly others(5): Show |
KLF4 | ENSG00000136826.15 | transcript | ENST00000374672.5 | protein_coding | 3/5 | 1184/2936 | 587/1440 | 196/479 | chr9 | TogoVar | ||
| KLHDC7B_chr22_50540899_50556023 | 50547934 | CCCCAGCC others(64): Show |
C | frameshift_variant | HIGH | NA18987.hp1 | a0039 | a0039c0069 | a0039c0069t0001 | a0039c0069t0001g0000 | 1 | 432 | 0.0023 | -71 | c.169 others(80): Show |
p.Ala others(5): Show |
KLHDC7B | ENSG00000130487.9 | transcript | ENST00000648057.3 | protein_coding | 1/1 | 2040/5125 | 1695/3708 | 565/1235 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
| KLHL12_chr1_202886120_202932234 | 202896903 | T | TCAATGGG others(4): Show |
frameshift_variant | HIGH | NA18950.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0291 | 1 | 358 | 0.0028 | 11 | c.879 others(18): Show |
p.Asp others(5): Show |
KLHL12 | ENSG00000117153.16 | transcript | ENST00000367261.8 | protein_coding | 7/12 | 1080/3311 | 889/1707 | 297/568 | chr1 | 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 | ||
| KLHL15_chrX_23978720_24032186 | 24006483 | T | TG | frameshift_variant | HIGH | NA18985.hp1 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0111 | 1 | 286 | 0.0035 | 1 | c.210 others(4): Show |
p.Lys others(4): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 3/4 | 466/6272 | 210/1815 | 70/604 | chrX | TogoVar | ||
| KLHL15_chrX_23978720_24032186 | 24006534 | C | CACTCTGG others(1): Show |
frameshift_variant | HIGH | NA18985.hp1 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0111 | 1 | 286 | 0.0035 | 8 | c.152 others(15): Show |
p.Asp others(4): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 3/4 | 415/6272 | 159/1815 | 53/604 | chrX | TogoVar | ||
| KLHL30_chr2_238133668_238157947 | 238141212 | AGGCCTGG others(10): Show |
A | frameshift_variant | HIGH | HG02698.hp1 | a0017 | a0017c0024 | a0017c0024t0002 | a0017c0024t0002g0190 | 1 | 450 | 0.0022 | -17 | c.460 others(24): Show |
p.Ala others(5): Show |
KLHL30 | ENSG00000168427.9 | transcript | ENST00000409223.2 | protein_coding | 2/8 | 621/3780 | 460/1737 | 154/578 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| KLHL34_chrX_21649690_21663330 | 21656561 | C | CG | frameshift_variant | HIGH | NA19062.hp1 | a0010 | a0010c0011 | a0010c0011t0025 | a0010c0011t0025g0000 | 1 | 265 | 0.0038 | 1 | c.122 others(5): Show |
p.Ala others(5): Show |
KLHL34 | ENSG00000185915.5 | transcript | ENST00000379499.3 | protein_coding | 1/1 | 1769/3641 | 1227/1935 | 409/644 | chrX | TogoVar | ||
| KLHL34_chrX_21649690_21663330 | 21656886 | C | CG | frameshift_variant | HIGH | NA19006.hp1 NA19062.hp1 |
a0006a0010 | a0006c0006a0010c0011 | a0006c0006t0002a0010c0011t0025 | a0006c0006t0002g0000a0010c0011t0025g0000 | 2 | 265 | 0.0076 | 1 | c.902 others(4): Show |
p.Gln others(5): Show |
KLHL34 | ENSG00000185915.5 | transcript | ENST00000379499.3 | protein_coding | 1/1 | 1444/3641 | 902/1935 | 301/644 | chrX | TogoVar | ||
| KLHL34_chrX_21649690_21663330 | 21656947 | CGGGTCTG others(1): Show |
C | frameshift_variant | HIGH | NA19062.hp1 | a0010 | a0010c0011 | a0010c0011t0025 | a0010c0011t0025g0000 | 1 | 265 | 0.0038 | -8 | c.834 others(15): Show |
p.Gln others(5): Show |
KLHL34 | ENSG00000185915.5 | transcript | ENST00000379499.3 | protein_coding | 1/1 | 1383/3641 | 834/1935 | 278/644 | chrX | TogoVar | ||
| KLHL34_chrX_21649690_21663330 | 21656980 | C | CA | frameshift_variant | HIGH | NA19062.hp1 | a0010 | a0010c0011 | a0010c0011t0025 | a0010c0011t0025g0000 | 1 | 265 | 0.0038 | 1 | c.808 others(8): Show |
p.Gly others(5): Show |
KLHL34 | ENSG00000185915.5 | transcript | ENST00000379499.3 | protein_coding | 1/1 | 1350/3641 | 808/1935 | 270/644 | chrX | TogoVar | ||
| KLHL34_chrX_21649690_21663330 | 21657097 | T | TC | frameshift_variant | HIGH | NA19062.hp1 | a0010 | a0010c0011 | a0010c0011t0025 | a0010c0011t0025g0000 | 1 | 265 | 0.0038 | 1 | c.691 others(4): Show |
p.Asp others(5): Show |
KLHL34 | ENSG00000185915.5 | transcript | ENST00000379499.3 | protein_coding | 1/1 | 1233/3641 | 691/1935 | 231/644 | chrX | TogoVar | ||
| KLHL34_chrX_21649690_21663330 | 21657208 | G | GC | frameshift_variant | HIGH | NA19062.hp1 | a0010 | a0010c0011 | a0010c0011t0025 | a0010c0011t0025g0000 | 1 | 265 | 0.0038 | 1 | c.580 others(4): Show |
p.Ala others(5): Show |
KLHL34 | ENSG00000185915.5 | transcript | ENST00000379499.3 | protein_coding | 1/1 | 1122/3641 | 580/1935 | 194/644 | chrX | TogoVar | ||
| KLHL34_chrX_21649690_21663330 | 21657535 | T | TC | frameshift_variant | HIGH | NA19062.hp1 | a0010 | a0010c0011 | a0010c0011t0025 | a0010c0011t0025g0000 | 1 | 265 | 0.0038 | 1 | c.253 others(4): Show |
p.Asp others(4): Show |
KLHL34 | ENSG00000185915.5 | transcript | ENST00000379499.3 | protein_coding | 1/1 | 795/3641 | 253/1935 | 85/644 | chrX | TogoVar | ||
| KLK10_chr19_51007739_51024709 | 51014781 | CTGGAGCG others(16): Show |
C | frameshift_variant others(1): Show |
HIGH | HG00738.hp1 NA20752.hp1 |
a0000 | a0000c0008 | a0000c0008t0020 | a0000c0008t0020g0055 | 2 | 450 | 0.0044 | -23 | c.827 others(30): Show |
p.Asn others(5): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 6/6 | 941/2984 | 827/831 | 276/276 | chr19 | TogoVar | ||
| KLK1_chr19_50814146_50828787 | 50820284 | C | CATGAGGT others(10): Show |
frameshift_variant | HIGH | HG02300.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0024 | 1 | 422 | 0.0024 | 17 | c.349 others(24): Show |
p.Met others(5): Show |
KLK1 | ENSG00000167748.11 | transcript | ENST00000301420.3 | protein_coding | 3/5 | 404/876 | 365/789 | 122/262 | chr19 | TogoVar | ||
| KLRC3_chr12_10407315_10425595 | 10419903 | CAGGACAA others(49): Show |
C | frameshift_variant | HIGH | HG01981.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0072 | 1 | 448 | 0.0022 | -56 | c.193 others(63): Show |
p.Leu others(4): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 2/7 | 293/1025 | 193/723 | 65/240 | chr12 | TogoVar |