view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CST7_chr20_24944269_24964928 | 24949509 | C | T | stop_gained | HIGH | HG03225.hp1 NA19065.hp1 |
a0002 | a0002c0007a0002c0008 | a0002c0007t0001a0002c0008t0002 | a0002c0007t0001g0053 a0002c0008t0002g0088 |
2 | 348 | 0.0057 | 0 | c.4C> others(1): Show |
p.Arg others(2): Show |
CST7 | ENSG00000077984.6 | transcript | ENST00000480798.2 | protein_coding | 1/4 | 241/891 | 4/438 | 2/145 | chr20 | TogoVar | |||
CST9_chr20_23597410_23610917 | 23603731 | G | A | stop_gained | HIGH | HG02040.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0033 | 1 | 420 | 0.0024 | 0 | c.259 others(3): Show |
p.Arg others(3): Show |
CST9 | ENSG00000173335.5 | transcript | ENST00000376971.4 | protein_coding | 2/2 | 312/1633 | 259/480 | 87/159 | chr20 | TogoVar | |||
CSTF2T_chr10_51690486_51704595 | 51699348 | C | A | stop_gained | HIGH | HG01069.hp1 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0000 | 1 | 426 | 0.0023 | 0 | c.202 others(3): Show |
p.Glu others(3): Show |
CSTF2T | ENSG00000177613.9 | transcript | ENST00000331173.6 | protein_coding | 1/1 | 248/4110 | 202/1851 | 68/616 | chr10 | TogoVar | |||
CSTF2T_chr10_51690486_51704595 | 51699403 | G | C | stop_gained | HIGH | HG01069.hp1 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0000 | 1 | 426 | 0.0023 | 0 | c.147 others(3): Show |
p.Tyr others(3): Show |
CSTF2T | ENSG00000177613.9 | transcript | ENST00000331173.6 | protein_coding | 1/1 | 193/4110 | 147/1851 | 49/616 | chr10 | TogoVar | |||
CSTPP1_chr11_46931761_47167247 | 47137716 | C | T | stop_gained | HIGH | NA18951.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0003 | 1 | 222 | 0.0045 | 0 | c.352 others(3): Show |
p.Gln others(4): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 4/9 | 397/1650 | 352/996 | 118/331 | chr11 | TogoVar | |||
CS_chr12_56266699_56305330 | 56282972 | A | AAGCCTCG others(42): Show |
frameshift_variant others(1): Show |
HIGH | HG01928.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0201 | 1 | 314 | 0.0032 | 49 | c.268 others(59): Show |
p.Phe others(4): Show |
CS | ENSG00000062485.19 | transcript | ENST00000351328.8 | protein_coding | 5/11 | 415/2915 | 286/1401 | 96/466 | chr12 | TogoVar | |||
CT45A3_chrX_135755044_135773191 | 135760399 | G | A | stop_gained | HIGH | HG00733.hp1 HG01978.hp1 |
a0003a0004 | a0003c0005a0004c0004 | a0003c0005t0001a0004c0004t0001 | a0003c0005t0001g0060 a0004c0004t0001g0059 |
2 | 159 | 0.0126 | 0 | c.523 others(3): Show |
p.Arg others(4): Show |
CT45A3 | ENSG00000269096.7 | transcript | ENST00000598716.3 | protein_coding | 5/5 | 613/968 | 523/570 | 175/189 | chrX | TogoVar | |||
CTAG1B_chrX_154612609_154624282 | 154617841 | G | A | stop_gained | HIGH | HG00735.hp2 HG01123.hp1 HG01258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 7 | 254 | 0.0276 | 0 | c.463 others(3): Show |
p.Gln others(4): Show |
CTAG1B | ENSG00000184033.14 | transcript | ENST00000328435.3 | protein_coding | 3/3 | 527/759 | 463/543 | 155/180 | chrX | TogoVar | |||
CTC1_chr17_8219815_8253056 | 8228230 | G | A | stop_gained | HIGH | HG02647.hp2 | a0014 | a0014c0019 | a0014c0019t0029 | a0014c0019t0029g0213 | 1 | 400 | 0.0025 | 0 | c.360 others(4): Show |
p.Arg others(5): Show |
CTC1 | ENSG00000178971.17 | transcript | ENST00000651323.1 | protein_coding | 23/23 | 3624/7039 | 3604/3654 | 1202/1217 | chr17 | TogoVar | |||
CTSA_chr20_45886335_45903820 | 45892731 | C | T | stop_gained | HIGH | NA20129.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0041 | 1 | 428 | 0.0023 | 0 | c.451 others(3): Show |
p.Gln others(4): Show |
CTSA | ENSG00000064601.21 | transcript | ENST00000646241.3 | protein_coding | 6/15 | 496/1858 | 451/1443 | 151/480 | chr20 | TogoVar | |||
CTSH_chr15_78916058_78950046 | 78944977 | C | T | stop_gained | HIGH | HG02083.hp2 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0252 | 1 | 412 | 0.0024 | 0 | c.5G> others(1): Show |
p.Trp others(2): Show |
CTSH | ENSG00000103811.18 | transcript | ENST00000220166.10 | protein_coding | 1/12 | 70/2145 | 5/1008 | 2/335 | chr15 | TogoVar | |||
CTU2_chr16_88701503_88720396 | 88712766 | G | T | stop_gained | HIGH | NA19074.hp1 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0088 | 1 | 416 | 0.0024 | 0 | c.598 others(3): Show |
p.Glu others(4): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/15 | 626/1721 | 598/1548 | 200/515 | chr16 | TogoVar | |||
CUBN_chr10_16818966_17134811 | 16982490 | A | T | stop_gained | HIGH | HG03491.hp2 | a0086 | a0086c0033 | a0086c0033t0001 | a0086c0033t0001g0115 | 1 | 190 | 0.0053 | 0 | c.468 others(4): Show |
p.Cys others(5): Show |
CUBN | ENSG00000107611.16 | transcript | ENST00000377833.10 | protein_coding | 31/67 | 4735/11927 | 4689/10872 | 1563/3623 | chr10 | TogoVar | |||
CWC22_chr2_179939876_180012297 | 179954295 | A | C | stop_gained | HIGH | NA19081.hp1 | a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0087 | 1 | 374 | 0.0027 | 0 | c.159 others(4): Show |
p.Tyr others(4): Show |
CWC22 | ENSG00000163510.14 | transcript | ENST00000410053.8 | protein_coding | 16/20 | 2143/3524 | 1599/2727 | 533/908 | chr2 | TogoVar | |||
CWC22_chr2_179939876_180012297 | 179954306 | T | A | stop_gained | HIGH | NA19081.hp1 | a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0087 | 1 | 374 | 0.0027 | 0 | c.158 others(4): Show |
p.Lys others(4): Show |
CWC22 | ENSG00000163510.14 | transcript | ENST00000410053.8 | protein_coding | 16/20 | 2132/3524 | 1588/2727 | 530/908 | chr2 | TogoVar | |||
CXCL6_chr4_73831678_73843760 | 73837213 | A | T | stop_gained | HIGH | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 442 | 0.0023 | 0 | c.253 others(3): Show |
p.Lys others(3): Show |
CXCL6 | ENSG00000124875.10 | transcript | ENST00000226317.10 | protein_coding | 3/4 | 326/1537 | 253/345 | 85/114 | chr4 | TogoVar | |||
CXCL8_chr4_73735569_73748716 | 73741568 | G | T | stop_gained | HIGH | HG00280.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0002 | 1 | 388 | 0.0026 | 0 | c.91G others(2): Show |
p.Glu others(3): Show |
CXCL8 | ENSG00000169429.12 | transcript | ENST00000307407.8 | protein_coding | 2/4 | 181/1642 | 91/300 | 31/99 | chr4 | TogoVar | |||
CXCR1_chr2_218157841_218171962 | 218164497 | G | A | stop_gained | HIGH | HG03831.hp2 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0025 | 1 | 342 | 0.0029 | 0 | c.715 others(3): Show |
p.Arg others(4): Show |
CXCR1 | ENSG00000163464.8 | transcript | ENST00000295683.3 | protein_coding | 2/2 | 803/2459 | 715/1053 | 239/350 | chr2 | TogoVar | |||
CXorf51A_chrX_146809106_146819744 | 146814615 | G | A | stop_gained | HIGH | HG02723.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0010 | 1 | 264 | 0.0038 | 0 | c.109 others(3): Show |
p.Arg others(3): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1/2 | 130/449 | 109/327 | 37/108 | chrX | TogoVar | |||
CYLC1_chrX_83856146_83891698 | 83873536 | T | A | stop_gained | HIGH | NA19082.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0062 | 1 | 206 | 0.0049 | 0 | c.828 others(3): Show |
p.Tyr others(4): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/5 | 865/2107 | 828/1956 | 276/651 | chrX | TogoVar | |||
CYP11B1_chr8_142867357_142884825 | 142875767 | G | A | stop_gained | HIGH | HG06807.hp1 | a0010 | a0010c0018 | a0010c0018t0002 | a0010c0018t0002g0064 | 1 | 426 | 0.0023 | 0 | c.106 others(4): Show |
p.Gln others(4): Show |
CYP11B1 | ENSG00000160882.13 | transcript | ENST00000292427.10 | protein_coding | 6/9 | 1078/3540 | 1066/1512 | 356/503 | chr8 | TogoVar | |||
CYP1A2_chr15_74743845_74761607 | 74749875 | G | A | stop_gained | HIGH | NA20905.hp2 | a0010 | a0010c0007 | a0010c0007t0004 | a0010c0007t0004g0005 | 1 | 414 | 0.0024 | 0 | c.137 others(3): Show |
p.Trp others(3): Show |
CYP1A2 | ENSG00000140505.7 | transcript | ENST00000343932.5 | protein_coding | 2/7 | 199/3132 | 137/1551 | 46/516 | chr15 | TogoVar | |||
CYP1A2_chr15_74743845_74761607 | 74755022 | C | A | stop_gained | HIGH | NA19030.hp2 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0011 | 1 | 414 | 0.0024 | 0 | c.148 others(4): Show |
p.Tyr others(4): Show |
CYP1A2 | ENSG00000140505.7 | transcript | ENST00000343932.5 | protein_coding | 7/7 | 1547/3132 | 1485/1551 | 495/516 | chr15 | TogoVar | |||
CYP20A1_chr2_203234018_203311026 | 203285662 | A | T | stop_gained | HIGH | NA19062.hp2 | a0007 | a0007c0007 | a0007c0007t0018 | a0007c0007t0018g0230 | 1 | 332 | 0.0030 | 0 | c.901 others(3): Show |
p.Lys others(4): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 9/13 | 946/10552 | 901/1389 | 301/462 | chr2 | TogoVar | |||
CYP21A2_chr6_32033415_32046644 | 32040421 | C | T | stop_gained | HIGH | HG00544.hp1 HG01070.hp1 HG01071.hp1 others(3): Show |
a0007a0017 | a0007c0017a0007c0039a0017c0042 | a0007c0017t0001a0007c0039t0001a0017c0042t0001 | a0007c0017t0001g0025 a0007c0039t0001g0003 a0017c0042t0001g0056 |
6 | 458 | 0.0131 | 0 | c.955 others(3): Show |
p.Gln others(4): Show |
CYP21A2 | ENSG00000231852.9 | transcript | ENST00000644719.2 | protein_coding | 8/10 | 963/2006 | 955/1488 | 319/495 | chr6 | TogoVar | |||
CYP2A13_chr19_41083451_41101195 | 41089049 | C | T | stop_gained | HIGH | NA19056.hp1 | a0014 | a0014c0022 | a0014c0022t0001 | a0014c0022t0001g0015 | 1 | 420 | 0.0024 | 0 | c.301 others(3): Show |
p.Arg others(4): Show |
CYP2A13 | ENSG00000197838.5 | transcript | ENST00000330436.4 | protein_coding | 2/9 | 322/1760 | 301/1485 | 101/494 | chr19 | TogoVar | |||
CYP2A7_chr19_40870439_40887231 | 40875778 | G | T | stop_gained | HIGH | HG00738.hp1 HG01070.hp1 HG01071.hp2 others(19): Show |
a0006a0026a0027 | a0006c0010a0006c0016a0006c0021others(4): Show | a0006c0010t0001a0006c0016t0001a0006c0021t0007others(4): Show | a0006c0010t0001g0007 a0006c0016t0001g0015 a0006c0021t0007g0163 others(5): Show |
22 | 396 | 0.0556 | 0 | c.140 others(4): Show |
p.Ser others(4): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 9/9 | 1421/1760 | 1400/1485 | 467/494 | chr19 | TogoVar | |||
CYP2A7_chr19_40870439_40887231 | 40877242 | A | T | stop_gained | HIGH | HG01069.hp2 | a0022 | a0022c0033 | a0022c0033t0002 | a0022c0033t0002g0067 | 1 | 396 | 0.0025 | 0 | c.110 others(4): Show |
p.Leu others(4): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 7/9 | 1130/1760 | 1109/1485 | 370/494 | chr19 | TogoVar | |||
CYP2A7_chr19_40870439_40887231 | 40881631 | G | A | stop_gained | HIGH | NA18522.hp2 | a0028 | a0028c0042 | a0028c0042t0001 | a0028c0042t0001g0127 | 1 | 396 | 0.0025 | 0 | c.301 others(3): Show |
p.Arg others(4): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 2/9 | 322/1760 | 301/1485 | 101/494 | chr19 | TogoVar | |||
CYP2C18_chr10_94678729_94741190 | 94687805 | T | A | stop_gained | HIGH | HG01884.hp1 HG02258.hp2 HG02630.hp2 others(21): Show |
a0003 | a0003c0003a0003c0007a0003c0010 | a0003c0003t0001a0003c0003t0006a0003c0007t0001others(1): Show | a0003c0003t0001g0048 a0003c0003t0001g0236 a0003c0003t0006g0014 others(13): Show |
24 | 376 | 0.0638 | 0 | c.204 others(3): Show |
p.Tyr others(3): Show |
CYP2C18 | ENSG00000108242.13 | transcript | ENST00000285979.11 | protein_coding | 2/9 | 295/2310 | 204/1473 | 68/490 | chr10 | TogoVar | |||
CYP2C18_chr10_94678729_94741190 | 94733405 | A | T | stop_gained | HIGH | NA19062.hp1 | a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0253 | 1 | 376 | 0.0027 | 0 | c.125 others(4): Show |
p.Lys others(4): Show |
CYP2C18 | ENSG00000108242.13 | transcript | ENST00000285979.11 | protein_coding | 8/9 | 1349/2310 | 1258/1473 | 420/490 | chr10 | TogoVar | |||
CYP2C19_chr10_94757681_94860547 | 94780653 | G | A | stop_gained | HIGH | HG03490.hp1 HG03492.hp1 HG03831.hp2 others(14): Show |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0002 a0003c0004t0006g0003 a0003c0004t0006g0031 others(10): Show |
17 | 362 | 0.0470 | 0 | c.636 others(3): Show |
p.Trp others(4): Show |
CYP2C19 | ENSG00000165841.11 | transcript | ENST00000371321.9 | protein_coding | 4/9 | 661/4131 | 636/1473 | 212/490 | chr10 | TogoVar | |||
CYP2C8_chr10_95031772_95074497 | 95045951 | C | A | stop_gained others(1): Show |
HIGH | HG02071.hp2 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0249 | 1 | 374 | 0.0027 | 0 | c.820 others(3): Show |
p.Glu others(4): Show |
CYP2C8 | ENSG00000138115.15 | transcript | ENST00000371270.6 | protein_coding | 6/9 | 915/1924 | 820/1473 | 274/490 | chr10 | TogoVar | |||
CYP2D6_chr22_42121499_42135810 | 42126667 | C | CGAGAAGC others(13703): Show |
stop_gained others(1): Show |
HIGH | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 415 | 0.0024 | 13710 | c.140 others(13719): Show |
p.Ser others(13723): Show |
CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 9/9 | 1419/1588 | 1400/1494 | 467/497 | chr22 | TogoVar | |||
CYP2D6_chr22_42121499_42135810 | 42126667 | C | CGAGAAGC others(13703): Show |
stop_gained others(1): Show |
HIGH | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 415 | 0.0024 | 13710 | c.140 others(13719): Show |
p.Ser others(13723): Show |
CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 9/9 | 1419/1588 | 1400/1494 | 467/497 | chr22 | TogoVar | |||
CYP2D6_chr22_42121499_42135810 | 42127590 | G | A | stop_gained | HIGH | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | 0 | c.103 others(4): Show |
p.Arg others(4): Show |
CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 7/9 | 1049/1588 | 1030/1494 | 344/497 | chr22 | TogoVar | |||
CYP2D6_chr22_42121499_42135810 | 42129086 | T | TGCTCCAG others(13703): Show |
stop_gained others(1): Show |
HIGH | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | 13710 | c.451 others(13717): Show |
p.Glu others(13723): Show |
CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 3/9 | 470/1588 | 451/1494 | 151/497 | chr22 | TogoVar | |||
CYP4A11_chr1_46924188_46946476 | 46935623 | G | A | stop_gained | HIGH | HG00558.hp1 | a0006 | a0006c0019 | a0006c0019t0001 | a0006c0019t0001g0066 | 1 | 426 | 0.0023 | 0 | c.535 others(3): Show |
p.Gln others(4): Show |
CYP4A11 | ENSG00000187048.14 | transcript | ENST00000310638.9 | protein_coding | 5/12 | 578/2530 | 535/1560 | 179/519 | chr1 | TogoVar | |||
CYP4A11_chr1_46924188_46946476 | 46938134 | G | A | stop_gained | HIGH | NA18983.hp1 | a0006 | a0006c0020 | a0006c0020t0014 | a0006c0020t0014g0036 | 1 | 426 | 0.0023 | 0 | c.199 others(3): Show |
p.Gln others(3): Show |
CYP4A11 | ENSG00000187048.14 | transcript | ENST00000310638.9 | protein_coding | 2/12 | 242/2530 | 199/1560 | 67/519 | chr1 | TogoVar | |||
CYP4F8_chr19_15610218_15635639 | 15628420 | C | T | stop_gained | HIGH | NA19062.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0004 | 1 | 410 | 0.0024 | 0 | c.123 others(4): Show |
p.Arg others(4): Show |
CYP4F8 | ENSG00000186526.13 | transcript | ENST00000612078.5 | protein_coding | 10/13 | 1298/2908 | 1234/1563 | 412/520 | chr19 | TogoVar | |||
CYP4Z1_chr1_47062231_47123318 | 47094638 | G | A | stop_gained | HIGH | HG03209.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0115 | 1 | 316 | 0.0032 | 0 | c.845 others(3): Show |
p.Trp others(4): Show |
CYP4Z1 | ENSG00000186160.5 | transcript | ENST00000334194.4 | protein_coding | 7/12 | 1105/2162 | 845/1518 | 282/505 | chr1 | TogoVar | |||
CYP7B1_chr8_64585851_64803737 | 64624519 | A | T | stop_gained | HIGH | NA18994.hp1 | a0004 | a0004c0003 | a0004c0003t0027 | a0004c0003t0027g0154 | 1 | 256 | 0.0039 | 0 | c.143 others(3): Show |
p.Leu others(3): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 2/6 | 293/7462 | 143/1521 | 48/506 | chr8 | TogoVar | |||
DAPL1_chr2_158790317_158820990 | 158815810 | C | T | stop_gained | HIGH | NA20752.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0004 | 1 | 358 | 0.0028 | 0 | c.313 others(3): Show |
p.Arg others(4): Show |
DAPL1 | ENSG00000163331.12 | transcript | ENST00000309950.8 | protein_coding | 4/4 | 369/549 | 313/324 | 105/107 | chr2 | TogoVar | |||
DAXX_chr6_33313558_33327959 | 33318755 | T | TCTCTCAA others(27): Show |
frameshift_variant others(1): Show |
HIGH | NA19085.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0026 | 1 | 374 | 0.0027 | 34 | c.221 others(43): Show |
p.Asp others(5): Show |
DAXX | ENSG00000204209.13 | transcript | ENST00000374542.10 | protein_coding | 8/8 | 2360/2558 | 2210/2223 | 737/740 | chr6 | TogoVar | |||
DBF4_chr7_87871493_87914553 | 87900839 | T | A | stop_gained | HIGH | NA18975.hp2 | a0008 | a0008c0008 | a0008c0008t0014 | a0008c0008t0014g0054 | 1 | 290 | 0.0034 | 0 | c.885 others(3): Show |
p.Tyr others(4): Show |
DBF4 | ENSG00000006634.8 | transcript | ENST00000265728.6 | protein_coding | 10/12 | 1125/3655 | 885/2025 | 295/674 | chr7 | TogoVar | |||
DCAF4L2_chr8_87865747_87879015 | 87873659 | G | A | stop_gained | HIGH | NA18975.hp1 NA18985.hp1 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0003 | a0003c0004t0001g0000 a0003c0004t0003g0000 |
2 | 428 | 0.0047 | 0 | c.313 others(3): Show |
p.Arg others(4): Show |
DCAF4L2 | ENSG00000176566.5 | transcript | ENST00000319675.5 | protein_coding | 1/1 | 357/3269 | 313/1188 | 105/395 | chr8 | TogoVar | |||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(17): Show |
268 | 454 | 0.5903 | 0 | c.349 others(3): Show |
p.Arg others(4): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 589/3135 | 349/735 | 117/244 | chr5 | TogoVar | |||
DCBLD1_chr6_117477674_117554797 | 117521545 | C | T | stop_gained | HIGH | HG00621.hp1 | a0008 | a0008c0024 | a0008c0024t0001 | a0008c0024t0001g0004 | 1 | 368 | 0.0027 | 0 | c.481 others(3): Show |
p.Arg others(4): Show |
DCBLD1 | ENSG00000164465.19 | transcript | ENST00000338728.10 | protein_coding | 4/15 | 589/3614 | 481/2148 | 161/715 | chr6 | TogoVar | |||
DCDC1_chr11_30858603_31374739 | 30917001 | T | TCGAAGAT others(384): Show |
frameshift_variant others(1): Show |
HIGH | HG03704.hp1 | a0025 | a0025c0031 | a0025c0031t0001 | a0025c0031t0001g0059 | 1 | 150 | 0.0067 | 391 | c.332 others(400): Show |
p.Met others(6): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 26/39 | 3487/7298 | 3320/5361 | 1107/1786 | chr11 | TogoVar | |||
DCDC2B_chr1_32204089_32221192 | 32211321 | C | T | stop_gained others(1): Show |
HIGH | HG01934.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0075 | 1 | 402 | 0.0025 | 0 | c.316 others(3): Show |
p.Gln others(4): Show |
DCDC2B | ENSG00000222046.3 | transcript | ENST00000409358.2 | protein_coding | 2/9 | 321/1350 | 316/1050 | 106/349 | chr1 | TogoVar |