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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR5AC2_chr3_98082173_98093102 | 98087856 | G | GA | frameshift_variant | HIGH | HG01175.hp2 HG02055.hp1 HG02109.hp2 others(14): Show |
a0004a0007a0009 | a0004c0010a0004c0015a0007c0011others(1): Show | a0004c0010t0000a0004c0015t0000a0007c0011t0000others(1): Show | a0004c0010t0000g0000a0004c0015t0000g0000a0007c0011t0000g0000others(1): Show | 17 | 462 | 0.0368 | 1 | c.692 others(4): Show |
p.Ser others(5): Show |
OR5AC2 | ENSG00000196578.4 | transcript | ENST00000358642.2 | protein_coding | 1/1 | 693/930 | 693/930 | 231/309 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0000a0001c0003t0000a0001c0005t0000others(2): Show | a0001c0001t0000g0000a0001c0003t0000g0000a0001c0005t0000g0000others(2): Show | 303 | 432 | 0.7014 | 0 | c.55C others(2): Show |
p.Gln others(3): Show |
OR5AR1 | ENSG00000172459.5 | transcript | ENST00000624596.2 | protein_coding | 1/1 | 55/933 | 55/933 | 19/310 | chr11 | TogoVar | ||
OR5K2_chr3_98492681_98503631 | 98498334 | T | A | stop_gained | HIGH | HG00099.hp1 HG00642.hp2 HG00673.hp1 others(46): Show |
a0002 | a0002c0002a0002c0003a0002c0011 | a0002c0002t0000a0002c0003t0000a0002c0011t0000 | a0002c0002t0000g0000a0002c0003t0000g0000a0002c0011t0000g0000 | 49 | 486 | 0.1008 | 0 | c.654 others(3): Show |
p.Tyr others(4): Show |
OR5K2 | ENSG00000231861.3 | transcript | ENST00000427338.3 | protein_coding | 1/1 | 654/951 | 654/951 | 218/316 | chr3 | TogoVar | ||
OR5K3_chr3_98385666_98396631 | 98391562 | G | GA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(89): Show |
a0000 | a0000c0002a0000c0009 | a0000c0002t0000a0000c0009t0000 | a0000c0002t0000g0000a0000c0009t0000g0000 | 92 | 472 | 0.1949 | 1 | c.904 others(4): Show |
p.Ile others(5): Show |
OR5K3 | ENSG00000206536.1 | transcript | ENST00000383695.1 | protein_coding | 1/1 | 905/966 | 905/966 | 302/321 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR5K4_chr3_98348854_98359819 | 98354747 | TA | T | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0002a0008 | a0002c0002a0008c0009 | a0002c0002t0000a0008c0009t0000 | a0002c0002t0000g0000a0008c0009t0000g0000 | 103 | 452 | 0.2279 | -1 | c.901 others(4): Show |
p.Ile others(5): Show |
OR5K4 | ENSG00000196098.2 | transcript | ENST00000354924.2 | protein_coding | 1/1 | 901/966 | 901/966 | 301/321 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR6C1_chr12_55309343_55327364 | 55320622 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
a0002 | a0002c0002a0002c0005a0002c0007others(2): Show | a0002c0002t0001a0002c0005t0002a0002c0005t0004others(3): Show | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(50): Show | 172 | 474 | 0.3629 | 1 | c.24d others(3): Show |
p.Glu others(3): Show |
OR6C1 | ENSG00000205330.4 | transcript | ENST00000642104.1 | protein_coding | 2/2 | 315/2055 | 25/939 | 9/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
OR6C74_chr12_55239609_55261625 | 55247471 | C | T | stop_gained | HIGH | HG00099.hp1 HG00558.hp2 HG00597.hp1 others(72): Show |
a0002a0005 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0006a0002c0002t0009a0002c0002t0013others(14): Show | a0002c0002t0006g0004a0002c0002t0009g0005a0002c0002t0013g0007others(14): Show | 75 | 340 | 0.2206 | 0 | c.184 others(3): Show |
p.Arg others(3): Show |
OR6C74 | ENSG00000197706.5 | transcript | ENST00000343399.5 | protein_coding | 2/2 | 402/9556 | 184/939 | 62/312 | chr12 | TogoVar | ||
OR6Q1_chr11_58025953_58036906 | 58031636 | AC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00741.hp2 others(25): Show |
a0004 | a0004c0005 | a0004c0005t0000 | a0004c0005t0000g0000 | 28 | 416 | 0.0673 | -1 | c.685 others(4): Show |
p.Leu others(5): Show |
OR6Q1 | ENSG00000279051.5 | transcript | ENST00000302622.4 | protein_coding | 1/1 | 685/954 | 685/954 | 229/317 | chr11 | TogoVar | ||
OR8G1_chr11_124236095_124259364 | 124250452 | C | G | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0006 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003a0001c0002t0003g0010a0001c0002t0003g0020others(42): Show | 217 | 430 | 0.5047 | 0 | c.777 others(3): Show |
p.Tyr others(4): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1143/5055 | 777/936 | 259/311 | chr11 | TogoVar | ||
OR8G1_chr11_124236095_124259364 | 124250538 | TGATTTAT others(844): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0006 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003a0001c0002t0003g0010a0001c0002t0003g0020others(42): Show | 217 | 430 | 0.5047 | -851 | c.866 others(8): Show |
p.Ile others(5): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1232/5055 | 866/936 | 289/311 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR8K1_chr11_56341039_56351998 | 56346040 | T | C | start_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0000a0001c0002t0000a0001c0004t0000others(8): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0004t0000g0000others(8): Show | 351 | 437 | 0.8032 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR8K1 | ENSG00000150261.5 | transcript | ENST00000279783.5 | protein_coding | 1/1 | 2/960 | 2/960 | 1/319 | chr11 | TogoVar | ||
OSBPL10_chr3_31655825_31986262 | 31981141 | A | AC | frameshift_variant | HIGH | HG01175.hp1 HG01175.hp2 HG01255.hp2 others(14): Show |
a0003 | a0003c0008a0003c0011a0003c0013others(8): Show | a0003c0008t0001a0003c0008t0002a0003c0011t0004others(11): Show | a0003c0008t0001g0001a0003c0008t0001g0006a0003c0008t0002g0005others(14): Show | 17 | 186 | 0.0914 | 1 | c.38d others(3): Show |
p.Ser others(4): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 1/12 | 121/3625 | 38/2295 | 13/764 | chr3 | TogoVar | ||
OSTM1_chr6_108036409_108079741 | 108074299 | A | AG | frameshift_variant | HIGH | HG01175.hp1 HG01175.hp2 HG01517.hp2 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0004a0003c0004t0005others(2): Show | a0003c0004t0001g0049a0003c0004t0001g0050a0003c0004t0001g0051others(7): Show | 10 | 388 | 0.0258 | 1 | c.352 others(4): Show |
p.Leu others(5): Show |
OSTM1 | ENSG00000081087.16 | transcript | ENST00000193322.8 | protein_coding | 1/6 | 442/4471 | 352/1005 | 118/334 | chr6 | TogoVar | ||
P2RY8_chrX_1457581_1542185 | 1466281 | A | AC | frameshift_variant | HIGH | HG01175.hp2 | a0007 | a0007c0009 | a0007c0009t0032 | a0007c0009t0032g0004 | 1 | 114 | 0.0088 | 1 | c.277 others(4): Show |
p.Val others(4): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 2/2 | 566/4267 | 277/1080 | 93/359 | chrX | TogoVar | ||
PALD1_chr10_70473767_70573450 | 70529208 | G | GCC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00621.hp1 HG00642.hp2 others(23): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0003a0005c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0046others(23): Show | 26 | 308 | 0.0844 | 2 | c.186 others(13): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PARP4_chr13_24415931_24517778 | 24443709 | G | A | stop_gained | HIGH | HG01175.hp2 | a0021 | a0021c0028 | a0021c0028t0001 | a0021c0028t0001g0326 | 1 | 362 | 0.0028 | 0 | c.338 others(4): Show |
p.Arg others(5): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 28/34 | 3462/5437 | 3388/5175 | 1130/1724 | chr13 | TogoVar | ||
PATE4_chr11_125828316_125845072 | 125837866 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(21): Show | 196 | 424 | 0.4623 | 0 | c.59- others(4): Show |
PATE4 | ENSG00000237353.7 | transcript | ENST00000457514.3 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46411303 | G | T | stop_gained | HIGH | HG01175.hp2 | a0046 | a0046c0064 | a0046c0064t0001 | a0046c0064t0001g0302 | 1 | 332 | 0.0030 | 0 | c.523 others(4): Show |
p.Glu others(5): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 28/47 | 5303/10526 | 5230/10011 | 1744/3336 | chr21 | TogoVar | ||
PCSK6_chr15_101298933_101494707 | 101489575 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00597.hp2 HG01175.hp1 others(8): Show |
a0005a0007 | a0005c0026a0005c0027a0005c0069others(5): Show | a0005c0026t0001a0005c0026t0015a0005c0027t0001others(6): Show | a0005c0026t0001g0331a0005c0026t0015g0332a0005c0027t0001g0330others(8): Show | 11 | 336 | 0.0327 | 1 | c.95d others(3): Show |
p.Ala others(4): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 1/22 | 132/4272 | 95/2910 | 32/969 | chr15 | TogoVar | ||
PDLIM2_chr8_22575475_22599298 | 22593765 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(39): Show |
a0002a0005a0008others(1): Show | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0001a0002c0003t0002a0002c0004t0001others(6): Show | a0002c0003t0001g0005a0002c0003t0001g0041a0002c0003t0001g0054others(37): Show | 42 | 380 | 0.1105 | 1 | c.916 others(4): Show |
p.Arg others(5): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 9/9 | 1047/1577 | 917/1059 | 306/352 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
PKD1L3_chr16_71924538_72005402 | 71967237 | G | A | stop_gained | HIGH | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(84): Show |
a0001a0004a0017others(1): Show | a0001c0001a0001c0028a0001c0062others(14): Show | a0001c0001t0001a0001c0028t0001a0001c0062t0001others(16): Show | a0001c0001t0001g0050a0001c0001t0001g0147a0001c0001t0001g0157others(84): Show | 87 | 308 | 0.2825 | 0 | c.236 others(4): Show |
p.Arg others(4): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 15/30 | 2789/5623 | 2365/5199 | 789/1732 | chr16 | TogoVar | ||
PKD1_chr16_2083708_2140898 | 2106894 | T | A | stop_gained | HIGH | HG01175.hp2 | a0032 | a0032c0099 | a0032c0099t0001 | a0032c0099t0001g0066 | 1 | 216 | 0.0046 | 0 | c.712 others(4): Show |
p.Lys others(5): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 17/46 | 7329/14140 | 7120/12912 | 2374/4303 | chr16 | TogoVar | ||
PKHD1L1_chr8_109357461_109542207 | 109459837 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(14): Show |
a0001a0033a0036 | a0001c0001a0033c0058a0036c0078 | a0001c0001t0002a0001c0001t0010a0033c0058t0002others(1): Show | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(14): Show | 17 | 282 | 0.0603 | 0 | c.724 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | TogoVar | ||||||
PKN1_chr19_14428306_14476859 | 14451928 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00597.hp2 HG01109.hp1 others(16): Show |
a0004a0009a0010 | a0004c0008a0004c0012a0004c0024others(7): Show | a0004c0008t0001a0004c0012t0001a0004c0024t0001others(7): Show | a0004c0008t0001g0109a0004c0008t0001g0194a0004c0008t0001g0281others(16): Show | 19 | 376 | 0.0505 | 1 | c.107 others(5): Show |
p.Phe others(5): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 7/22 | 1294/3120 | 1078/2829 | 360/942 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
PLEKHA2_chr8_38896346_38978912 | 38901439 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(334): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(332): Show | 337 | 376 | 0.8963 | 1 | c.-24 others(6): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PLPPR3_chr19_807488_826955 | 813259 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00597.hp2 HG01099.hp1 others(16): Show |
a0000 | a0000c0007a0000c0019a0000c0020others(5): Show | a0000c0007t0001a0000c0007t0002a0000c0019t0001others(6): Show | a0000c0007t0001g0015a0000c0007t0001g0025a0000c0007t0001g0063others(11): Show | 19 | 398 | 0.0477 | 1 | c.146 others(5): Show |
p.Pro others(5): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 8/8 | 1534/2306 | 1467/2157 | 489/718 | chr19 | TogoVar | ||
PLPPR3_chr19_807488_826955 | 813562 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG01175.hp1 HG01934.hp1 others(4): Show |
a0000 | a0000c0009 | a0000c0009t0001a0000c0009t0002 | a0000c0009t0001g0024a0000c0009t0001g0068a0000c0009t0001g0119others(2): Show | 7 | 398 | 0.0176 | 1 | c.116 others(5): Show |
p.Ala others(5): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 8/8 | 1231/2306 | 1164/2157 | 388/718 | chr19 | TogoVar | ||
POMZP3_chr7_76604986_76632279 | 76611468 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(209): Show |
a0000 | a0000c0002a0000c0004a0000c0005others(6): Show | a0000c0002t0002a0000c0002t0003a0000c0002t0004others(25): Show | a0000c0002t0002g0003a0000c0002t0002g0007a0000c0002t0002g0014others(183): Show | 212 | 423 | 0.5012 | -1 | c.560 others(4): Show |
p.Leu others(5): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 6/7 | 1283/1528 | 560/564 | 187/187 | chr7 | TogoVar | ||
PPIG_chr2_169579351_169646406 | 169584491 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(85): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0006others(80): Show | 88 | 382 | 0.2304 | 0 | c.-70 others(5): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
PRPF3_chr1_150316533_150358233 | 150324880 | C | CTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(297): Show | 306 | 362 | 0.8453 | 4 | c.-48 others(15): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRR12_chr19_49586182_49631439 | 49596852 | A | AC | frameshift_variant | HIGH | HG00735.hp2 HG01099.hp2 HG01175.hp1 others(6): Show |
a0003a0004 | a0003c0005a0004c0011 | a0003c0005t0001a0004c0011t0001a0004c0011t0002 | a0003c0005t0001g0009a0003c0005t0001g0216a0003c0005t0001g0232others(6): Show | 9 | 322 | 0.0280 | 1 | c.252 others(5): Show |
p.Pro others(5): Show |
PRR12 | ENSG00000126464.15 | transcript | ENST00000418929.7 | protein_coding | 4/14 | 2996/7416 | 2523/6111 | 841/2036 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
PRRT2_chr16_29807193_29820881 | 29813694 | G | GC | frameshift_variant | HIGH | HG00621.hp1 HG00735.hp2 HG01169.hp1 others(17): Show |
a0003a0004 | a0003c0003a0003c0007a0004c0004 | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(5): Show | a0003c0003t0001g0001a0003c0003t0002g0001a0003c0003t0005g0001others(5): Show | 20 | 322 | 0.0621 | 1 | c.649 others(4): Show |
p.Arg others(5): Show |
PRRT2 | ENSG00000167371.21 | transcript | ENST00000358758.12 | protein_coding | 2/4 | 846/2462 | 650/1023 | 217/340 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
PRSS48_chr4_151272161_151296862 | 151279866 | G | GCAGGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(87): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0002a0002c0004t0001g0012a0002c0004t0001g0013others(21): Show | 90 | 428 | 0.2103 | 5 | c.127 others(12): Show |
p.Ser others(4): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 2/5 | 144/1408 | 132/987 | 44/328 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0005others(4): Show | a0000c0001t0002a0000c0001t0004a0000c0001t0005others(6): Show | a0000c0001t0002g0001a0000c0001t0002g0008a0000c0001t0002g0010others(100): Show | 325 | 428 | 0.7594 | 0 | c.985 others(3): Show |
p.Ter others(11): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 5/5 | 997/1408 | 985/987 | 329/328 | chr4 | TogoVar | ||
PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(373): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(319): Show | 376 | 416 | 0.9039 | 0 | c.292 others(3): Show |
p.Arg others(3): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/6 | 423/2067 | 292/1260 | 98/419 | chr19 | TogoVar | ||
PSG8_chr19_42749233_42770678 | 42763988 | AG | A | frameshift_variant | HIGH | HG00280.hp1 HG00609.hp2 HG00738.hp2 others(33): Show |
a0003a0009a0011others(3): Show | a0003c0003a0003c0005a0003c0013others(6): Show | a0003c0003t0001a0003c0005t0001a0003c0013t0001others(6): Show | a0003c0003t0001g0008a0003c0003t0001g0024a0003c0003t0001g0158others(17): Show | 36 | 438 | 0.0822 | -1 | c.357 others(4): Show |
p.Tyr others(5): Show |
PSG8 | ENSG00000124467.20 | transcript | ENST00000306511.5 | protein_coding | 2/5 | 454/1440 | 357/1281 | 119/426 | chr19 | TogoVar | ||
PTEN_chr10_87858625_87976930 | 87960876 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(27): Show | a0001c0001t0002g0009a0001c0001t0002g0144a0001c0001t0002g0211others(84): Show | 87 | 322 | 0.2702 | 1 | c.802 others(6): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PTK2_chr8_140652900_141006282 | 140770715 | C | T | splice_donor_variant others(1): Show |
HIGH | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0133 | 1 | 290 | 0.0035 | 0 | c.126 others(6): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 15/35 | chr8 | TogoVar | ||||||
PTPN23_chr3_47376021_47418435 | 47410831 | A | AC | frameshift_variant | HIGH | HG00140.hp2 HG00597.hp1 HG00738.hp2 others(33): Show |
a0005a0006 | a0005c0007a0005c0010a0005c0029others(7): Show | a0005c0007t0001a0005c0010t0001a0005c0029t0001others(7): Show | a0005c0007t0001g0001a0005c0007t0001g0008a0005c0007t0001g0016others(31): Show | 36 | 332 | 0.1084 | 1 | c.304 others(5): Show |
p.Leu others(6): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 3117/5237 | 3041/4911 | 1014/1636 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
PTPN23_chr3_47376021_47418435 | 47411089 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show |
a0002a0004a0005others(6): Show | a0002c0003a0002c0008a0002c0009others(19): Show | a0002c0003t0001a0002c0008t0001a0002c0008t0002others(20): Show | a0002c0003t0001g0001a0002c0003t0001g0002a0002c0003t0001g0012others(118): Show | 135 | 332 | 0.4066 | 1 | c.329 others(5): Show |
p.Arg others(6): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 3373/5237 | 3297/4911 | 1099/1636 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
PYGL_chr14_50900217_50949483 | 50911872 | CT | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0002g0010a0001c0001t0002g0100a0001c0001t0002g0114others(188): Show | 253 | 390 | 0.6487 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135724075 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG01175.hp2 HG01192.hp1 others(9): Show |
a0005a0006a0008others(1): Show | a0005c0006a0006c0005a0008c0007others(1): Show | a0005c0006t0001a0005c0006t0003a0006c0005t0001others(3): Show | a0005c0006t0001g0010a0005c0006t0001g0022a0005c0006t0001g0126others(9): Show | 12 | 232 | 0.0517 | 1 | c.319 others(5): Show |
p.Leu others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 27/27 | 3593/4781 | 3194/3405 | 1065/1134 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
RAD51B_chr14_67814779_68483093 | 67864961 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01123.hp2 HG01175.hp1 HG01261.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0024others(4): Show | 7 | 84 | 0.0833 | 1 | c.316 others(6): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RAD51B_chr14_67814779_68483093 | 67864961 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG01175.hp2 HG02615.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0034others(1): Show | 4 | 84 | 0.0476 | 2 | c.316 others(13): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RAPH1_chr2_203428682_203540301 | 203440679 | C | CG | frameshift_variant | HIGH | HG00597.hp2 HG00621.hp2 HG00673.hp2 others(7): Show |
a0002a0003a0006 | a0002c0013a0002c0016a0002c0022others(3): Show | a0002c0013t0002a0002c0013t0009a0002c0016t0001others(7): Show | a0002c0013t0002g0215a0002c0013t0009g0256a0002c0016t0001g0011others(7): Show | 10 | 290 | 0.0345 | 1 | c.251 others(5): Show |
p.Pro others(5): Show |
RAPH1 | ENSG00000173166.18 | transcript | ENST00000319170.10 | protein_coding | 14/14 | 2701/9699 | 2510/3753 | 837/1250 | chr2 | TogoVar | ||
RAPH1_chr2_203428682_203540301 | 203441288 | T | TG | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(33): Show |
a0002a0006 | a0002c0005a0002c0006a0002c0012others(8): Show | a0002c0005t0002a0002c0005t0003a0002c0005t0011others(28): Show | a0002c0005t0002g0136a0002c0005t0002g0168a0002c0005t0003g0145others(33): Show | 36 | 290 | 0.1241 | 1 | c.190 others(5): Show |
p.Pro others(5): Show |
RAPH1 | ENSG00000173166.18 | transcript | ENST00000319170.10 | protein_coding | 14/14 | 2092/9699 | 1901/3753 | 634/1250 | chr2 | TogoVar | ||
RARA_chr17_40304180_40362643 | 40348371 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00735.hp2 HG01175.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0001a0002c0002t0001g0024a0002c0002t0001g0025others(11): Show | 14 | 286 | 0.0490 | 1 | c.239 others(4): Show |
p.Leu others(4): Show |
RARA | ENSG00000131759.18 | transcript | ENST00000254066.10 | protein_coding | 3/9 | 709/3275 | 240/1389 | 80/462 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
RBMXL2_chr11_7083998_7096148 | 7089456 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00642.hp2 HG01099.hp2 others(39): Show |
a0003a0005a0010others(1): Show | a0003c0004a0003c0005a0003c0011others(4): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(9): Show | a0003c0004t0001g0000a0003c0004t0002g0000a0003c0004t0003g0000others(9): Show | 42 | 460 | 0.0913 | 1 | c.341 others(4): Show |
p.Gly others(5): Show |
RBMXL2 | ENSG00000170748.7 | transcript | ENST00000306904.7 | protein_coding | 1/1 | 465/2151 | 342/1179 | 114/392 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0008a0003c0004others(16): Show | a0002c0002t0001a0002c0008t0001a0003c0004t0001others(16): Show | a0002c0002t0001g0003a0002c0002t0001g0011a0002c0002t0001g0014others(130): Show | 232 | 438 | 0.5297 | 1 | c.127 others(5): Show |
p.Asp others(5): Show |
RHBG | ENSG00000132677.13 | transcript | ENST00000537040.6 | protein_coding | 9/10 | 1311/1790 | 1272/1377 | 424/458 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
RPL28_chr19_55380932_55397085 | 55388029 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00621.hp1 others(52): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(14): Show | a0000c0002t0001g0001a0000c0002t0001g0020a0000c0002t0002g0001others(17): Show | 55 | 314 | 0.1752 | 1 | c.307 others(4): Show |
p.Arg others(5): Show |
RPL28 | ENSG00000108107.15 | transcript | ENST00000344063.7 | protein_coding | 4/5 | 350/4209 | 308/414 | 103/137 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |