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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AADACL3_chr1_12711110_12733760 | 12716215 | C | A | stop_gained | HIGH | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show |
a0002 | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0038others(11): Show | a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 others(26): Show |
73 | 430 | 0.1698 | 0 | c.39C others(2): Show |
p.Cys others(3): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | 106/4055 | 39/1224 | 13/407 | chr1 | TogoVar | |||
ACSM2A_chr16_20446521_20492669 | 20465682 | C | T | stop_gained | HIGH | HG00673.hp2 HG02071.hp1 HG02083.hp2 others(31): Show |
a0006 | a0006c0006a0006c0016 | a0006c0006t0002a0006c0006t0003a0006c0006t0009others(2): Show | a0006c0006t0002g0015 a0006c0006t0002g0040 a0006c0006t0002g0256 others(27): Show |
34 | 434 | 0.0783 | 0 | c.343 others(3): Show |
p.Arg others(4): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3/14 | 512/2894 | 343/1734 | 115/577 | chr16 | TogoVar | |||
ADI1_chr2_3492366_3524531 | 3513880 | T | A | stop_gained | HIGH | NA18997.hp2 | a0007 | a0007c0009 | a0007c0009t0006 | a0007c0009t0006g0150 | 1 | 390 | 0.0026 | 0 | c.217 others(3): Show |
p.Lys others(3): Show |
ADI1 | ENSG00000182551.14 | transcript | ENST00000327435.11 | protein_coding | 2/4 | 261/2181 | 217/540 | 73/179 | chr2 | TogoVar | |||
AMD1_chr6_110869785_110900713 | 110892724 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(205): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show |
208 | 378 | 0.5503 | 1 | c.616 others(6): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ANKRD7_chr7_118219704_118247732 | 118224885 | TACAACCT others(3): Show |
T | frameshift_variant | HIGH | NA18997.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0031 | 1 | 404 | 0.0025 | -10 | c.57_ others(15): Show |
p.Tyr others(4): Show |
ANKRD7 | ENSG00000106013.15 | transcript | ENST00000265224.9 | protein_coding | 1/7 | 184/1313 | 57/765 | 19/254 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ANLN_chr7_36384862_36458791 | 36425997 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0010a0004c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(55): Show |
64 | 396 | 0.1616 | 1 | c.274 others(7): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ARMS2_chr10_122449653_122462352 | 122454839 | C | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(58): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(2): Show | a0003c0003t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0018 others(4): Show |
61 | 422 | 0.1446 | 0 | c.112 others(3): Show |
p.Arg others(3): Show |
ARMS2 | ENSG00000254636.1 | transcript | ENST00000528446.1 | protein_coding | 1/2 | 187/818 | 112/324 | 38/107 | chr10 | TogoVar | |||
AS3MT_chr10_102864470_102906899 | 102869497 | TCCTGAGT others(29): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(158): Show |
173 | 352 | 0.4915 | -36 | c.-19 others(44): Show |
p.Met others(3): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 1/11 | 105/2450 | 1/1128 | 1/375 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
ASAH2B_chr10_50734936_50764255 | 50745132 | T | C | start_lost | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(343): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(131): Show |
346 | 412 | 0.8398 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/6 | 149/5145 | 2/483 | 1/160 | chr10 | TogoVar | |||
BRIX1_chr5_34910711_34930996 | 34925223 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(14): Show |
50 | 436 | 0.1147 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(228): Show |
405 | 412 | 0.9830 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | |||||||
C17orf107_chr17_4894536_4907934 | 4900416 | G | A | stop_gained | HIGH | HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(4): Show | a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(4): Show |
94 | 440 | 0.2136 | 0 | c.456 others(3): Show |
p.Trp others(4): Show |
C17orf107 | ENSG00000205710.4 | transcript | ENST00000381365.4 | protein_coding | 3/3 | 683/3201 | 456/573 | 152/190 | chr17 | TogoVar | |||
C3orf52_chr3_112081389_112123210 | 112109537 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(153): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0011a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 others(98): Show |
156 | 370 | 0.4216 | 1 | c.397 others(6): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAMTA2_chr17_4962997_4992675 | 4972767 | A | C | splice_donor_variant others(1): Show |
HIGH | NA18997.hp1 | a0013 | a0013c0013 | a0013c0013t0003 | a0013c0013t0003g0047 | 1 | 378 | 0.0026 | 0 | c.250 others(6): Show |
CAMTA2 | ENSG00000108509.21 | transcript | ENST00000348066.8 | protein_coding | 15/22 | chr17 | TogoVar | |||||||
CARD8_chr19_48203086_48260912 | 48231760 | C | CTT | frameshift_variant | HIGH | HG00642.hp2 HG01109.hp1 HG02135.hp2 others(16): Show |
a0003 | a0003c0006a0003c0009a0003c0019 | a0003c0006t0003a0003c0006t0007a0003c0006t0016others(3): Show | a0003c0006t0003g0051 a0003c0006t0003g0055 a0003c0006t0003g0152 others(16): Show |
19 | 360 | 0.0528 | 2 | c.440 others(9): Show |
p.Val others(5): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 8/14 | 813/5610 | 441/1614 | 147/537 | chr19 | TogoVar | |||
CCDC195_chr2_224698764_224721365 | 224716143 | G | A | stop_gained | HIGH | NA18970.hp2 NA18997.hp1 NA19075.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 3 | 410 | 0.0073 | 0 | c.223 others(3): Show |
p.Gln others(3): Show |
CCDC195 | ENSG00000283428.1 | transcript | ENST00000638102.1 | protein_coding | 1/3 | 223/606 | 223/606 | 75/201 | chr2 | TogoVar | |||
CCNL2_chr1_1380711_1404335 | 1398672 | CTAGAG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00544.hp1 HG00558.hp2 HG01109.hp1 others(49): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(2): Show | a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0042 others(34): Show |
52 | 368 | 0.1413 | -5 | c.289 others(16): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(97): Show |
211 | 404 | 0.5223 | -1 | c.10d others(3): Show |
p.Leu others(3): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1/8 | 51/953 | 10/777 | 4/258 | chr12 | TogoVar | |||
CHIT1_chr1_203211079_203234673 | 203217822 | C | CAGACCAT others(17): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show |
a0001a0009a0014others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show |
175 | 482 | 0.3631 | 24 | c.104 others(33): Show |
p.Val others(37): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1109/2248 | 1072/1401 | 358/466 | chr1 | TogoVar | |||
CMYA5_chr5_79684836_79805222 | 79761809 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0353 | 1 | 356 | 0.0028 | 0 | c.112 others(7): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 7/12 | chr5 | TogoVar | |||||||
COL1A2_chr7_94389895_94436227 | 94429215 | TCCAAGGA others(6): Show |
T | frameshift_variant | HIGH | NA18997.hp2 | a0014 | a0014c0028 | a0014c0028t0002 | a0014c0028t0002g0207 | 1 | 436 | 0.0023 | -13 | c.374 others(22): Show |
p.Ser others(6): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 51/52 | 3877/5072 | 3740/4101 | 1247/1366 | chr7 | 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 | |||
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 | |||||||
CYP2D6_chr22_42121499_42135810 | 42123231 | GCCTCTGC others(12145): Show |
G | transcript_ablation | HIGH | HG00621.hp2 HG01069.hp1 HG01192.hp2 others(11): Show |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 14 | 414 | 0.0338 | -12152 | c.-45 others(11): Show |
p.0? | CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 7/9 | chr22 | TogoVar | ||||||
CYP4B1_chr1_46794046_46824413 | 46815074 | GAT | G | frameshift_variant others(1): Show |
HIGH | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(65): Show |
a0003 | a0003c0003a0003c0018a0003c0019 | a0003c0003t0001a0003c0003t0003a0003c0018t0003others(1): Show | a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0101 others(36): Show |
68 | 398 | 0.1709 | -2 | c.884 others(9): Show |
p.Asp others(5): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 8/12 | 920/2174 | 884/1539 | 295/512 | chr1 | 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 | ||
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 | ||
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 | ||||||
DHX29_chr5_55251055_55312694 | 55289357 | T | A | stop_gained | HIGH | NA18997.hp2 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0259 | 1 | 338 | 0.0030 | 0 | c.979 others(3): Show |
p.Lys others(4): Show |
DHX29 | ENSG00000067248.11 | transcript | ENST00000251636.10 | protein_coding | 8/27 | 1100/4664 | 979/4110 | 327/1369 | chr5 | TogoVar | |||
DHX29_chr5_55251055_55312694 | 55289363 | C | A | stop_gained | HIGH | NA18997.hp2 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0259 | 1 | 338 | 0.0030 | 0 | c.973 others(3): Show |
p.Glu others(4): Show |
DHX29 | ENSG00000067248.11 | transcript | ENST00000251636.10 | protein_coding | 8/27 | 1094/4664 | 973/4110 | 325/1369 | chr5 | TogoVar | |||
DMGDH_chr5_78992564_79074674 | 79044442 | G | A | stop_gained | HIGH | NA18997.hp2 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0167 | 1 | 370 | 0.0027 | 0 | c.856 others(3): Show |
p.Arg others(4): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 6/16 | 910/3173 | 856/2601 | 286/866 | chr5 | 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 | |||
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 | |||
GDPD4_chr11_77211558_77306686 | 77243743 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show |
a0003a0004a0006others(1): Show | a0003c0003a0004c0004a0006c0006others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 others(79): Show |
84 | 348 | 0.2414 | 1 | c.119 others(5): Show |
p.Ile others(5): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/17 | 1526/2617 | 1191/1563 | 397/520 | chr11 | TogoVar | |||
GFPT2_chr5_180295698_180358336 | 180316994 | CATAGTAT others(3): Show |
C | frameshift_variant | HIGH | NA18997.hp1 | a0006 | a0006c0016 | a0006c0016t0002 | a0006c0016t0002g0044 | 1 | 410 | 0.0024 | -10 | c.101 others(19): Show |
p.Phe others(5): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 11/19 | 1141/3034 | 1013/2049 | 338/682 | chr5 | TogoVar | |||
GNPDA1_chr5_141995671_142018027 | 142002080 | T | TTCTTTGA others(6): Show |
frameshift_variant | HIGH | NA18997.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0068 | 1 | 422 | 0.0024 | 13 | c.818 others(20): Show |
p.Glu others(5): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 7/7 | 857/2267 | 818/870 | 273/289 | chr5 | TogoVar | |||
GNPDA1_chr5_141995671_142018027 | 142002082 | T | A | stop_gained | HIGH | NA18997.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0068 | 1 | 422 | 0.0024 | 0 | c.817 others(3): Show |
p.Lys others(4): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 7/7 | 856/2267 | 817/870 | 273/289 | chr5 | TogoVar | |||
GOLGA8B_chr15_34520095_34588651 | 34535910 | C | G | start_lost | HIGH | NA18997.hp1 | a0022 | a0022c0014 | a0022c0014t0002 | a0022c0014t0002g0041 | 1 | 196 | 0.0051 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
GOLGA8B | ENSG00000215252.12 | transcript | ENST00000683415.1 | protein_coding | 9/24 | 1261/5607 | 3/1812 | 1/603 | chr15 | TogoVar | |||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(422): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show |
425 | 446 | 0.9529 | 0 | c.418 others(3): Show |
p.Arg others(4): Show |
GPR33 | ENSG00000214943.5 | transcript | ENST00000399285.5 | protein_coding | 2/2 | 567/1240 | 418/1002 | 140/333 | chr14 | TogoVar | |||
GRIN2C_chr17_74837023_74864885 | 74850238 | C | CA | frameshift_variant | HIGH | HG01109.hp2 NA18944.hp2 NA18966.hp1 others(2): Show |
a0004 | a0004c0016a0004c0031a0004c0033others(1): Show | a0004c0016t0001a0004c0031t0001a0004c0033t0001others(1): Show | a0004c0016t0001g0151 a0004c0016t0001g0152 a0004c0031t0001g0150 others(2): Show |
5 | 356 | 0.0140 | 1 | c.145 others(10): Show |
p.Val others(5): Show |
GRIN2C | ENSG00000161509.14 | transcript | ENST00000293190.10 | protein_coding | 6/13 | 1615/4271 | 1458/3702 | 486/1233 | chr17 | TogoVar | |||
GSC2_chr22_19141993_19155292 | 19149662 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18974.hp2 NA18975.hp1 NA18997.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 5 | 468 | 0.0107 | 0 | c.513 others(5): Show |
GSC2 | ENSG00000063515.3 | transcript | ENST00000086933.3 | protein_coding | 2/2 | chr22 | TogoVar | |||||||
GSTO1_chr10_104249892_104272455 | 104263071 | AGAG | A | frameshift_variant others(3): Show |
HIGH | HG00738.hp1 HG01069.hp2 HG01071.hp2 others(15): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 a0003c0003t0001g0071 a0003c0003t0001g0081 |
18 | 376 | 0.0479 | -3 | c.464 others(12): Show |
p.Glu others(5): Show |
GSTO1 | ENSG00000148834.13 | transcript | ENST00000369713.10 | protein_coding | 4/6 | 501/813 | 464/726 | 155/241 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
GTPBP3_chr19_17332553_17347731 | 17341646 | A | AG | frameshift_variant | HIGH | HG00423.hp1 HG00558.hp2 HG01099.hp2 others(46): Show |
a0004a0005a0006 | a0004c0004a0005c0005a0005c0020others(1): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0005others(7): Show | a0004c0004t0001g0006 a0004c0004t0001g0007 a0004c0004t0001g0019 others(19): Show |
49 | 405 | 0.1210 | 1 | c.142 others(5): Show |
p.Thr others(5): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 9/9 | 1487/2566 | 1428/1479 | 476/492 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
HEATR4_chr14_73473484_73563947 | 73529735 | GTGTGCTA others(27720): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(93): Show |
a0001a0008a0021 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0007others(5): Show | a0001c0001t0002g0165 a0001c0001t0002g0199 a0001c0001t0002g0207 others(88): Show |
96 | 366 | 0.2623 | -27727 | c.-15 others(17): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/18 | chr14 | TogoVar | |||||||
HIBCH_chr2_190198920_190324826 | 190319749 | A | G | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(100): Show |
a0003 | a0003c0003a0003c0004a0003c0009 | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(8): Show | a0003c0003t0002g0179 a0003c0003t0002g0195 a0003c0003t0002g0197 others(97): Show |
103 | 366 | 0.2814 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/14 | 78/2434 | 2/1161 | 1/386 | chr2 | TogoVar | |||
HSD17B13_chr4_87298794_87327882 | 87310240 | T | TA | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(93): Show |
a0001a0006a0009 | a0001c0001a0006c0008a0009c0010 | a0001c0001t0001a0001c0001t0002a0006c0008t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(70): Show |
96 | 440 | 0.2182 | 1 | c.812 others(6): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 6/6 | chr4 | TogoVar | |||||||
HYI_chr1_43445989_43458931 | 43451405 | CTCACCTC others(6): Show |
C | splice_donor_variant others(3): Show |
HIGH | NA18951.hp2 NA18997.hp1 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0017 | 2 | 420 | 0.0048 | -13 | c.752 others(22): Show |
p.Gln others(19): Show |
HYI | ENSG00000178922.18 | transcript | ENST00000372430.9 | protein_coding | 7/8 | 752/834 | 251/277 | chr1 | TogoVar | ||||
IGFL3_chr19_46115067_46129688 | 46119477 | ACTGGAGC others(5571): Show |
A | transcript_ablation | HIGH | HG00280.hp1 HG00544.hp1 HG01074.hp1 others(29): Show |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 32 | 430 | 0.0744 | -5578 | c.-40 others(9): Show |
p.0? | IGFL3 | ENSG00000188624.3 | transcript | ENST00000341415.3 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
IQCA1L_chr7_151185873_151210496 | 151195597 | TC | T | frameshift_variant | HIGH | HG00408.hp2 HG00621.hp1 HG00639.hp2 others(129): Show |
a0002a0005a0008others(8): Show | a0002c0003a0002c0012a0002c0015others(26): Show | a0002c0003t0001a0002c0012t0001a0002c0015t0001others(26): Show | a0002c0003t0001g0007 a0002c0003t0001g0023 a0002c0003t0001g0026 others(80): Show |
132 | 446 | 0.2960 | -1 | c.137 others(5): Show |
p.Glu others(5): Show |
IQCA1L | ENSG00000278685.4 | transcript | ENST00000615129.4 | protein_coding | 11/19 | 1417/2606 | 1375/2457 | 459/818 | chr7 | TogoVar |