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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL6A2_chr21_46093112_46134801 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(17): Show | a0001c0001t0001g0037 a0001c0001t0001g0116 a0001c0001t0001g0153 others(80): Show |
100 | 367 | 0.2725 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(21): Show | a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0002t0001g0320 others(80): Show |
97 | 359 | 0.2702 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CPN2_chr3_194334768_194356328 | 194341178 | G | A | stop_gained | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(132): Show |
a0001a0004a0010others(4): Show | a0001c0002a0001c0011a0001c0014others(7): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(17): Show | a0001c0002t0003g0002 a0001c0002t0003g0004 a0001c0002t0003g0013 others(55): Show |
135 | 438 | 0.3082 | 0 | c.152 others(4): Show |
p.Gln others(4): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 2/2 | 1615/3025 | 1525/1638 | 509/545 | chr3 | TogoVar | |||
CPNE7_chr16_89570758_89602246 | 89584767 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp2 HG00621.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0311 a0001c0002t0002g0307 a0001c0002t0003g0298 others(22): Show |
28 | 346 | 0.0809 | 1 | c.508 others(6): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49705086 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00735.hp2 others(14): Show |
a0002a0004 | a0002c0003a0002c0005a0004c0007 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(3): Show | a0002c0003t0001g0139 a0002c0003t0001g0142 a0002c0003t0001g0221 others(14): Show |
17 | 348 | 0.0489 | 1 | c.853 others(4): Show |
p.Arg others(5): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 9/20 | 1162/2846 | 854/2412 | 285/803 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0016a0001c0029others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(268): Show |
275 | 343 | 0.8017 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRELD1_chr3_9928834_9950406 | 9940914 | A | AG | frameshift_variant | HIGH | HG00673.hp1 HG01175.hp2 HG01255.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0007 others(7): Show |
10 | 400 | 0.0250 | 1 | c.530 others(4): Show |
p.Ser others(5): Show |
CRELD1 | ENSG00000163703.20 | transcript | ENST00000452070.6 | protein_coding | 6/11 | 637/2196 | 531/1263 | 177/420 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
CSNKA2IP_chr3_88333456_88472594 | 88467516 | G | A | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(239): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0004a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(233): Show |
242 | 384 | 0.6302 | 0 | c.215 others(4): Show |
p.Trp others(4): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2617/2695 | 2159/2205 | 720/734 | chr3 | TogoVar | |||
CXXC4_chr4_104463308_104499894 | 104491452 | A | AC | frameshift_variant | HIGH | HG01099.hp1 HG01243.hp1 HG01928.hp1 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(7): Show | a0002c0002t0001g0010 a0002c0002t0001g0041 a0002c0002t0001g0094 others(12): Show |
20 | 330 | 0.0606 | 1 | c.350 others(4): Show |
p.Gly others(5): Show |
CXXC4 | ENSG00000168772.12 | transcript | ENST00000394767.3 | protein_coding | 2/3 | 801/5569 | 350/1104 | 117/367 | chr4 | TogoVar | |||
CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(408): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(258): Show |
411 | 446 | 0.9215 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | 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 | |||
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(229): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0003c0006others(2): Show | a0002c0002t0001a0003c0003t0001a0003c0006t0001others(2): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(16): Show |
232 | 458 | 0.5066 | -2 | c.317 others(9): Show |
p.Pro others(5): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 356/434 | 317/336 | 106/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
DFFA_chr1_10451522_10477529 | 10472433 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show |
a0002 | a0002c0002a0002c0004a0002c0006others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(57): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(124): Show |
195 | 436 | 0.4472 | 1 | c.25d others(3): Show |
p.Val others(3): Show |
DFFA | ENSG00000160049.12 | transcript | ENST00000377038.8 | protein_coding | 1/6 | 96/6035 | 25/996 | 9/331 | chr1 | TogoVar | |||
DHDH_chr19_48928699_48949969 | 48939592 | T | TG | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show |
a0002a0006a0017others(2): Show | a0002c0002a0002c0005a0002c0024others(7): Show | a0002c0002t0001a0002c0005t0001a0002c0024t0001others(7): Show | a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 others(53): Show |
132 | 433 | 0.3049 | 1 | c.517 others(4): Show |
p.Ala others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 4/7 | 541/1064 | 518/1005 | 173/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
DHDH_chr19_48928699_48949969 | 48944491 | GGA | G | frameshift_variant | HIGH | HG00140.hp1 HG00642.hp1 HG01106.hp2 others(17): Show |
a0002a0006 | a0002c0005a0006c0019 | a0002c0005t0001a0006c0019t0001 | a0002c0005t0001g0002 a0002c0005t0001g0009 a0002c0005t0001g0015 others(9): Show |
20 | 434 | 0.0461 | -2 | c.881 others(9): Show |
p.Glu others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 6/7 | 904/1064 | 881/1005 | 294/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
DHRS11_chr17_36586879_36605804 | 36600156 | CCA | C | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show |
111 | 384 | 0.2891 | -2 | c.742 others(13): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0002a0003a0006others(21): Show | a0002c0007a0003c0003a0003c0054others(26): Show | a0002c0007t0001a0002c0007t0004a0003c0003t0001others(32): Show | a0002c0007t0001g0149 a0002c0007t0001g0166 a0002c0007t0001g0222 others(86): Show |
99 | 269 | 0.3680 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(4052): Show |
T | exon_loss_variant | HIGH | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(42): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0002a0001c0046others(11): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(14): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0125 others(40): Show |
45 | 252 | 0.1786 | -4059 | c.447 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 37/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76482880 | A | AC | frameshift_variant | HIGH | HG00621.hp2 HG01243.hp2 HG02055.hp1 others(7): Show |
a0004 | a0004c0009a0004c0014a0004c0025others(3): Show | a0004c0009t0002a0004c0009t0008a0004c0014t0001others(4): Show | a0004c0009t0002g0095 a0004c0009t0002g0162 a0004c0009t0002g0164 others(7): Show |
10 | 277 | 0.0361 | 1 | c.643 others(4): Show |
p.Arg others(5): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 4/11 | 1026/2641 | 644/1869 | 215/622 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
DYNLT5_chr1_66747459_66784047 | 66776404 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0010a0003c0003t0021 | a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0012 others(29): Show |
55 | 400 | 0.1375 | 0 | c.336 others(5): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
EFCAB13_chr17_47318955_47446312 | 47347921 | C | T | stop_gained | HIGH | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(25): Show |
a0005a0011 | a0005c0005a0011c0027 | a0005c0005t0001a0005c0005t0002a0005c0005t0003others(2): Show | a0005c0005t0001g0007 a0005c0005t0001g0008 a0005c0005t0001g0068 others(25): Show |
28 | 354 | 0.0791 | 0 | c.631 others(3): Show |
p.Arg others(4): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 9/25 | 1068/3957 | 631/2922 | 211/973 | chr17 | TogoVar | |||
EFCAB8_chr20_32853923_32966845 | 32943738 | C | T | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(28): Show |
a0004a0005a0008others(5): Show | a0004c0004a0005c0037a0008c0007others(5): Show | a0004c0004t0001a0004c0004t0003a0005c0037t0004others(8): Show | a0004c0004t0001g0091 a0004c0004t0003g0060 a0004c0004t0003g0061 others(28): Show |
31 | 282 | 0.1099 | 0 | c.289 others(4): Show |
p.Gln others(4): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 23/27 | 2987/4197 | 2893/3867 | 965/1288 | chr20 | TogoVar | |||
ENTPD2_chr9_137043107_137059061 | 137051127 | G | T | stop_gained others(1): Show |
HIGH | HG03927.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0067 | 1 | 397 | 0.0025 | 0 | c.549 others(3): Show |
p.Tyr others(4): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 5/9 | 613/2102 | 549/1488 | 183/495 | chr9 | TogoVar | |||
ERFL_chr19_41902704_41933449 | 41908239 | T | TC | frameshift_variant | HIGH | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(8): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0003t0003a0002c0003t0015others(1): Show | a0002c0003t0001g0043 a0002c0003t0001g0063 a0002c0003t0001g0098 others(8): Show |
11 | 328 | 0.0335 | 1 | c.105 others(5): Show |
p.Thr others(5): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 6/6 | 1476/2012 | 1053/1065 | 351/354 | chr19 | TogoVar | |||
FAM193A_chr4_2531647_2737573 | 2536987 | C | CG | frameshift_variant | HIGH | HG00544.hp2 HG00741.hp2 HG01099.hp1 others(9): Show |
a0002 | a0002c0006a0002c0011a0002c0012others(2): Show | a0002c0006t0001a0002c0006t0002a0002c0006t0017others(4): Show | a0002c0006t0001g0242 a0002c0006t0001g0268 a0002c0006t0001g0285 others(9): Show |
12 | 328 | 0.0366 | 1 | c.77d others(3): Show |
p.Asn others(4): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 1/21 | 347/5522 | 78/4548 | 26/1515 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
FAM90A10_chr8_7763977_7776988 | 7770362 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(41): Show |
a0003a0005a0009others(16): Show | a0003c0003a0005c0005a0009c0021others(18): Show | a0003c0003t0001a0005c0005t0001a0009c0021t0001others(18): Show | a0003c0003t0001g0001 a0003c0003t0001g0027 a0005c0005t0001g0004 others(19): Show |
44 | 126 | 0.3492 | 0 | c.432 others(5): Show |
FAM90A10 | ENSG00000285950.1 | transcript | ENST00000533716.2 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FAM90A9_chr8_7756330_7769340 | 7762715 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(60): Show |
a0001a0003a0004others(18): Show | a0001c0001a0001c0018a0003c0003others(19): Show | a0001c0001t0001a0001c0018t0001a0003c0003t0001others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(35): Show |
63 | 92 | 0.6848 | 0 | c.432 others(5): Show |
FAM90A9 | ENSG00000285607.1 | transcript | ENST00000648344.1 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FANCM_chr14_45130930_45205890 | 45159080 | TTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(40): Show |
a0003a0004a0010others(2): Show | a0003c0002a0004c0004a0010c0014others(2): Show | a0003c0002t0001a0004c0004t0001a0010c0014t0001others(2): Show | a0003c0002t0001g0003 a0003c0002t0001g0169 a0003c0002t0001g0170 others(37): Show |
43 | 235 | 0.1830 | -2 | c.139 others(15): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FANCM_chr14_45130930_45205890 | 45185207 | TCTTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show |
a0002a0003a0004others(16): Show | a0002c0003a0002c0006a0002c0007others(22): Show | a0002c0003t0001a0002c0003t0002a0002c0006t0002others(24): Show | a0002c0003t0001g0014 a0002c0003t0001g0165 a0002c0003t0001g0166 others(107): Show |
114 | 236 | 0.4831 | -4 | c.451 others(17): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132570140 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG01175.hp1 HG01978.hp1 others(8): Show |
a0005a0020a0046 | a0005c0031a0005c0032a0005c0051others(5): Show | a0005c0031t0002a0005c0031t0022a0005c0032t0001others(7): Show | a0005c0031t0002g0255 a0005c0031t0022g0064 a0005c0032t0001g0020 others(8): Show |
11 | 346 | 0.0318 | 1 | c.911 others(4): Show |
p.Gln others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 7/19 | 1332/4839 | 912/3009 | 304/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
FBRSL1_chr12_132485151_132590188 | 132583374 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG01109.hp2 others(30): Show |
a0005a0007a0013others(9): Show | a0005c0052a0005c0054a0007c0022others(17): Show | a0005c0052t0005a0005c0054t0001a0007c0022t0002others(23): Show | a0005c0052t0005g0090 a0005c0054t0001g0069 a0007c0022t0002g0115 others(30): Show |
33 | 346 | 0.0954 | 1 | c.261 others(5): Show |
p.Ala others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 19/19 | 3031/4839 | 2611/3009 | 871/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
FBXL18_chr7_5470797_5518809 | 5500960 | C | CG | frameshift_variant | HIGH | HG00544.hp2 HG00735.hp1 HG00738.hp1 others(36): Show |
a0002a0004a0005 | a0002c0004a0002c0006a0002c0017others(3): Show | a0002c0004t0001a0002c0004t0005a0002c0004t0006others(16): Show | a0002c0004t0001g0017 a0002c0004t0001g0137 a0002c0004t0001g0145 others(35): Show |
39 | 336 | 0.1161 | 1 | c.130 others(5): Show |
p.Ala others(5): Show |
FBXL18 | ENSG00000155034.21 | transcript | ENST00000382368.8 | protein_coding | 3/5 | 1443/8270 | 1308/2157 | 436/718 | chr7 | TogoVar | |||
FEZF2_chr3_62364681_62378550 | 62372516 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00642.hp1 HG01261.hp1 others(22): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003 | a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0002g0005 others(2): Show |
25 | 418 | 0.0598 | 1 | c.352 others(4): Show |
p.Ala others(5): Show |
FEZF2 | ENSG00000153266.13 | transcript | ENST00000283268.8 | protein_coding | 2/5 | 682/2112 | 352/1380 | 118/459 | chr3 | TogoVar | |||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(275): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0122 others(271): Show |
278 | 365 | 0.7616 | 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 |
a0003a0004a0005others(9): Show | a0003c0002a0003c0042a0003c0043others(12): Show | a0003c0002t0002a0003c0002t0012a0003c0002t0019others(16): Show | a0003c0002t0002g0002 a0003c0002t0002g0072 a0003c0002t0002g0074 others(20): Show |
155 | 420 | 0.3690 | 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 | |||
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(332): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show |
335 | 382 | 0.8770 | -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 | ||
FOXD4L1_chr2_113493665_113506150 | 113500127 | AC | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show |
a0002a0007a0009 | a0002c0002a0002c0005a0002c0010others(3): Show | a0002c0002t0002a0002c0002t0015a0002c0002t0016others(5): Show | a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 others(5): Show |
99 | 324 | 0.3056 | -1 | c.876 others(4): Show |
p.Gly others(5): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1468/2486 | 876/1227 | 292/408 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
FOXD4L1_chr2_113493665_113506150 | 113500482 | A | G | stop_lost | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show |
a0002a0006a0007others(1): Show | a0002c0002a0002c0005a0002c0010others(4): Show | a0002c0002t0002a0002c0002t0015a0002c0002t0016others(6): Show | a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 others(6): Show |
101 | 324 | 0.3117 | 0 | c.122 others(4): Show |
p.Ter others(11): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1818/2486 | 1226/1227 | 409/408 | chr2 | TogoVar | |||
FOXD4L3_chr9_68297867_68310084 | 68303273 | A | T | stop_gained | HIGH | HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show |
a0001a0007 | a0001c0002a0001c0003a0001c0014others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 others(3): Show |
84 | 174 | 0.4828 | 0 | c.322 others(3): Show |
p.Lys others(4): Show |
FOXD4L3 | ENSG00000187559.6 | transcript | ENST00000342833.4 | protein_coding | 1/1 | 407/2218 | 322/1254 | 108/417 | chr9 | TogoVar | |||
FOXRED2_chr22_36482190_36512040 | 36506336 | C | CG | frameshift_variant | HIGH | HG00738.hp2 HG01175.hp1 HG01978.hp2 others(8): Show |
a0005 | a0005c0007a0005c0009a0005c0012 | a0005c0007t0001a0005c0007t0003a0005c0007t0005others(6): Show | a0005c0007t0001g0038 a0005c0007t0001g0041 a0005c0007t0003g0089 others(8): Show |
11 | 318 | 0.0346 | 1 | c.86d others(3): Show |
p.Arg others(4): Show |
FOXRED2 | ENSG00000100350.16 | transcript | ENST00000397224.9 | protein_coding | 2/9 | 119/4906 | 86/2055 | 29/684 | chr22 | TogoVar | |||
FTHL17_chrX_31066233_31077041 | 31071512 | C | A | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG02165.hp2 others(34): Show |
a0002a0004a0006 | a0002c0003a0002c0004a0004c0007others(1): Show | a0002c0003t0001a0002c0004t0001a0004c0007t0001others(1): Show | a0002c0003t0001g0000 a0002c0004t0001g0000 a0004c0007t0001g0000 others(1): Show |
37 | 334 | 0.1108 | 0 | c.442 others(3): Show |
p.Glu others(4): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 1/1 | 530/809 | 442/552 | 148/183 | chrX | TogoVar | |||
FUT2_chr19_48690971_48710951 | 48703417 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show |
91 | 392 | 0.2321 | 0 | c.461 others(3): Show |
p.Trp others(4): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 2/2 | 582/3116 | 461/1032 | 154/343 | chr19 | TogoVar | |||
GAB4_chr22_16956936_17013222 | 16988159 | C | A | stop_gained | HIGH | HG00280.hp1 HG00544.hp2 HG00558.hp2 others(144): Show |
a0002a0005 | a0002c0002a0002c0008a0002c0013others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 others(74): Show |
147 | 428 | 0.3435 | 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 | |||
GBP3_chr1_89001680_89027866 | 89010225 | GATTCTCC others(2709): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
a0002a0011a0014 | a0002c0002a0011c0011a0014c0017 | a0002c0002t0003a0002c0002t0006a0002c0002t0009others(2): Show | a0002c0002t0003g0008 a0002c0002t0003g0014 a0002c0002t0003g0015 others(52): Show |
82 | 434 | 0.1889 | -2716 | c.868 others(16): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
GJC2_chr1_228144930_228164826 | 228158838 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00738.hp2 HG01261.hp1 others(5): Show |
a0002 | a0002c0003a0002c0011 | a0002c0003t0001a0002c0011t0002 | a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0003 others(4): Show |
8 | 412 | 0.0194 | 1 | c.108 others(5): Show |
p.Ala others(5): Show |
GJC2 | ENSG00000198835.4 | transcript | ENST00000366714.3 | protein_coding | 2/2 | 1182/2165 | 1085/1320 | 362/439 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
GLB1L3_chr11_134271379_134324564 | 134277444 | C | T | stop_gained | HIGH | HG03927.hp1 | a0008 | a0008c0021 | a0008c0021t0001 | a0008c0021t0001g0235 | 1 | 420 | 0.0024 | 0 | c.142 others(3): Show |
p.Gln others(3): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 2/20 | 504/2946 | 142/1962 | 48/653 | chr11 | 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 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0032 others(50): Show |
87 | 434 | 0.2005 | -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 | |||
GMIP_chr19_19624476_19648657 | 19637409 | C | CG | frameshift_variant | HIGH | HG00609.hp1 HG01099.hp1 HG01978.hp1 others(18): Show |
a0002 | a0002c0002a0002c0008a0002c0009others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0008t0001others(3): Show | a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0062 others(12): Show |
21 | 414 | 0.0507 | 1 | c.107 others(5): Show |
p.Pro others(5): Show |
GMIP | ENSG00000089639.11 | transcript | ENST00000203556.9 | protein_coding | 11/21 | 1207/3528 | 1079/2913 | 360/970 | chr19 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(212): Show |
a0001a0006a0015others(8): Show | a0001c0001a0001c0014a0001c0023others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(43): Show |
215 | 306 | 0.7026 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440317 | A | ATCCCGCA others(226): Show |
frameshift_variant | HIGH | HG02258.hp2 HG02615.hp1 HG02717.hp2 others(14): Show |
a0005a0012 | a0005c0006a0005c0008a0005c0031others(1): Show | a0005c0006t0007a0005c0006t0013a0005c0006t0021others(5): Show | a0005c0006t0007g0017 a0005c0006t0013g0039 a0005c0006t0021g0116 others(7): Show |
17 | 393 | 0.0433 | 233 | c.215 others(242): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2219/3499 | 2157/2730 | 719/909 | chr15 | TogoVar |