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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GPRC6A_chr6_116787085_116834083 | 116828845 | G | A | stop_gained | HIGH | HG00099.hp1 HG01106.hp1 HG01109.hp1 others(22): Show |
a0005 | a0005c0005a0005c0015a0005c0028 | a0005c0005t0001a0005c0015t0001a0005c0028t0001 | a0005c0005t0001g0004 a0005c0005t0001g0050 a0005c0005t0001g0051 others(13): Show |
25 | 366 | 0.0683 | 0 | c.169 others(3): Show |
p.Arg others(3): Show |
GPRC6A | ENSG00000173612.10 | transcript | ENST00000310357.8 | protein_coding | 1/6 | 239/2908 | 169/2781 | 57/926 | chr6 | TogoVar | |||
GRIN3B_chr19_995419_1014732 | 1004897 | G | GCGTT | frameshift_variant | HIGH | HG00642.hp2 HG00741.hp2 HG01069.hp1 others(55): Show |
a0003a0010a0024others(6): Show | a0003c0005a0003c0025a0003c0026others(21): Show | a0003c0005t0002a0003c0025t0002a0003c0026t0002others(21): Show | a0003c0005t0002g0006 a0003c0005t0002g0016 a0003c0005t0002g0028 others(35): Show |
58 | 444 | 0.1306 | 4 | c.139 others(13): Show |
p.Gly others(5): Show |
GRIN3B | ENSG00000116032.5 | transcript | ENST00000234389.3 | protein_coding | 3/9 | 1416/3281 | 1397/3132 | 466/1043 | chr19 | TogoVar | |||
GSE1_chr16_85608322_85681200 | 85654328 | G | GC | frameshift_variant | HIGH | HG00639.hp2 HG01978.hp1 HG02027.hp1 others(5): Show |
a0003a0023 | a0003c0008a0003c0010a0023c0021 | a0003c0008t0001a0003c0008t0004a0003c0008t0048others(4): Show | a0003c0008t0001g0111 a0003c0008t0001g0137 a0003c0008t0004g0268 others(5): Show |
8 | 288 | 0.0278 | 1 | c.482 others(4): Show |
p.Leu others(5): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 4/16 | 553/7385 | 483/3654 | 161/1217 | INFO_REALIGN_3_PRIME | chr16 | 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 | |||
HIP1_chr7_75528298_75743941 | 75582153 | T | C | splice_acceptor_variant others(1): Show |
HIGH | NA20300.hp2 | a0001 | a0001c0014 | a0001c0014t0026 | a0001c0014t0026g0015 | 1 | 252 | 0.0040 | 0 | c.466 others(5): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 5/30 | chr7 | TogoVar | |||||||
HLA-DQB1_chr6_32654467_32671657 | 32664861 | C | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show |
a0005a0009a0010others(2): Show | a0005c0006a0005c0019a0009c0010others(3): Show | a0005c0006t0004a0005c0019t0004a0009c0010t0001others(6): Show | a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 others(15): Show |
102 | 400 | 0.2550 | 0 | c.316 others(3): Show |
p.Glu others(4): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2/5 | 366/1605 | 316/786 | 106/261 | chr6 | TogoVar | |||
HP_chr16_72049505_72066055 | 72056410 | GGCTTCTA others(1717): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show |
a0002 | a0002c0002a0002c0005a0002c0016 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0022 others(6): Show |
105 | 424 | 0.2476 | -1724 | c.191 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(158): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0012others(160): Show | a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0002g0189 others(169): Show |
381 | 415 | 0.9181 | -1 | c.1de others(2): Show |
p.Met others(3): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 2/3 | 77/9629 | 1/8553 | 1/2850 | chr1 | TogoVar | |||
HYKK_chr15_78502577_78541645 | 78527485 | C | T | stop_gained | HIGH | NA20300.hp2 | a0006 | a0006c0009 | a0006c0009t0077 | a0006c0009t0077g0239 | 1 | 410 | 0.0024 | 0 | c.583 others(3): Show |
p.Arg others(4): Show |
HYKK | ENSG00000188266.14 | transcript | ENST00000388988.9 | protein_coding | 4/5 | 683/4197 | 583/1122 | 195/373 | chr15 | TogoVar | |||
IFNA10_chr9_21201181_21212143 | 21207038 | A | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show |
a0002 | a0002c0002a0002c0003a0002c0004others(9): Show | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(13): Show | a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show |
194 | 456 | 0.4254 | 0 | c.60T others(2): Show |
p.Cys others(3): Show |
IFNA10 | ENSG00000186803.3 | transcript | ENST00000357374.2 | protein_coding | 1/1 | 106/963 | 60/570 | 20/189 | chr9 | TogoVar | |||
IFNE_chr9_21475839_21487313 | 21481484 | G | A | stop_gained | HIGH | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 61 | 448 | 0.1362 | 0 | c.211 others(3): Show |
p.Gln others(3): Show |
IFNE | ENSG00000184995.7 | transcript | ENST00000448696.4 | protein_coding | 1/1 | 830/1475 | 211/627 | 71/208 | chr9 | TogoVar | |||
IL17RB_chr3_53841568_53870794 | 53865249 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(51): Show |
a0002 | a0002c0005a0002c0007 | a0002c0005t0001a0002c0007t0001a0002c0007t0006others(1): Show | a0002c0005t0001g0006 a0002c0005t0001g0027 a0002c0005t0001g0028 others(33): Show |
54 | 448 | 0.1205 | 0 | c.145 others(4): Show |
p.Gln others(4): Show |
IL17RB | ENSG00000056736.10 | transcript | ENST00000288167.8 | protein_coding | 11/11 | 1471/2016 | 1450/1509 | 484/502 | chr3 | TogoVar | |||
IPO7_chr11_9379652_9453127 | 9438045 | G | GTT | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp2 HG01952.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0076 others(6): Show |
9 | 61 | 0.1475 | 2 | c.249 others(15): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr11 | 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 | |||
IQCM_chr4_149346709_149820843 | 149733320 | TGG | T | frameshift_variant | HIGH | HG00639.hp2 HG02896.hp1 HG02897.hp1 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0017 a0003c0005t0001g0139 a0003c0005t0001g0192 others(3): Show |
6 | 250 | 0.0240 | -2 | c.307 others(9): Show |
p.Pro others(5): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 5/14 | 638/2078 | 307/1506 | 103/501 | chr4 | TogoVar | |||
IQSEC1_chr3_12892043_13078429 | 12901341 | T | TG | frameshift_variant | HIGH | HG01978.hp1 HG01978.hp2 HG02027.hp1 others(14): Show |
a0002a0010a0017 | a0002c0002a0002c0014a0002c0017others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(8): Show | a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0093 others(14): Show |
17 | 248 | 0.0685 | 1 | c.298 others(5): Show |
p.His others(5): Show |
IQSEC1 | ENSG00000144711.17 | transcript | ENST00000613206.2 | protein_coding | 14/14 | 3401/7700 | 2986/3345 | 996/1114 | chr3 | TogoVar | |||
IRS2_chr13_109747695_109791583 | 109782805 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00673.hp2 HG00741.hp1 others(24): Show |
a0003a0004 | a0003c0008a0003c0010a0003c0012others(2): Show | a0003c0008t0002a0003c0008t0004a0003c0008t0009others(11): Show | a0003c0008t0002g0129 a0003c0008t0002g0130 a0003c0008t0002g0132 others(24): Show |
27 | 396 | 0.0682 | 1 | c.324 others(5): Show |
p.Pro others(6): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/2 | 3778/8156 | 3248/4017 | 1083/1338 | chr13 | TogoVar | |||
ITIH5_chr10_7554270_7671966 | 7563115 | T | TC | frameshift_variant | HIGH | HG01884.hp2 HG02071.hp2 HG02145.hp1 others(24): Show |
a0005a0007a0008others(4): Show | a0005c0013a0005c0025a0005c0034others(14): Show | a0005c0013t0004a0005c0013t0036a0005c0013t0037others(21): Show | a0005c0013t0004g0113 a0005c0013t0036g0251 a0005c0013t0037g0114 others(24): Show |
27 | 340 | 0.0794 | 1 | c.279 others(5): Show |
p.Thr others(5): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 14/14 | 2870/6716 | 2796/2829 | 932/942 | chr10 | TogoVar | |||
ITPR2_chr12_26330352_26838194 | 26681871 | T | TACTC | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(101): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(89): Show | a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0052 others(101): Show |
104 | 140 | 0.7429 | 4 | c.140 others(17): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 13/56 | chr12 | TogoVar | |||||||
JSRP1_chr19_2247252_2261417 | 2255312 | C | G | start_lost | HIGH | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show |
a0002 | a0002c0003a0002c0004a0002c0008others(4): Show | a0002c0003t0001a0002c0004t0001a0002c0008t0001others(4): Show | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0011 others(23): Show |
114 | 434 | 0.2627 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2/7 | 68/1138 | 3/996 | 1/331 | chr19 | TogoVar | |||
KBTBD8_chr3_66993307_67016210 | 67007905 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp1 HG02145.hp1 HG02559.hp2 others(13): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0014 a0001c0001t0002g0055 a0001c0001t0005g0009 others(7): Show |
16 | 382 | 0.0419 | 1 | c.134 others(7): Show |
KBTBD8 | ENSG00000163376.11 | transcript | ENST00000417314.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNJ16_chr17_70070225_70140608 | 70100767 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00733.hp2 HG01099.hp2 HG01109.hp1 others(47): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0009 a0001c0001t0001g0128 a0001c0001t0001g0240 others(46): Show |
50 | 328 | 0.1524 | 0 | c.-19 others(6): Show |
KCNJ16 | ENSG00000153822.15 | transcript | ENST00000392671.6 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
KCNN1_chr19_17962107_18005085 | 17998301 | A | AC | frameshift_variant | HIGH | HG01192.hp1 HG01952.hp2 HG03669.hp1 others(6): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0007others(1): Show | a0002c0002t0001g0028 a0002c0002t0001g0199 a0002c0002t0001g0357 others(6): Show |
9 | 376 | 0.0239 | 1 | c.153 others(5): Show |
p.Pro others(5): Show |
KCNN1 | ENSG00000105642.16 | transcript | ENST00000684775.1 | protein_coding | 10/10 | 1825/3603 | 1533/1632 | 511/543 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
KIF25_chr6_167992671_168050091 | 168029510 | C | CTGACATG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(323): Show |
335 | 371 | 0.9030 | 76 | c.7_8 others(80): Show |
p.Lys others(4): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1881/3048 | 83/1155 | 28/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
KIR3DL1_chr19_54811468_54835778 | 54825019 | ATGTTCTA others(6): Show |
A | frameshift_variant others(3): Show |
HIGH | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 323 | 0.0031 | -13 | c.950 others(22): Show |
p.Gly others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 6/9 | 950/1335 | 317/444 | chr19 | TogoVar | ||||
KIR3DL1_chr19_54811468_54835778 | 54829458 | C | CA | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0003a0002c0031a0026c0030 | a0002c0003t0002a0002c0031t0002a0026c0030t0002 | a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 others(12): Show |
62 | 394 | 0.1574 | 1 | c.110 others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KIR3DL1_chr19_54811468_54835778 | 54829965 | AAC | A | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0003a0002c0031a0026c0030 | a0002c0003t0002a0002c0031t0002a0026c0030t0002 | a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 others(12): Show |
62 | 394 | 0.1574 | -2 | c.114 others(11): Show |
p.Thr others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 8/9 | 1178/1871 | 1145/1335 | 382/444 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
KIR3DL1_chr19_54811468_54835778 | 54830138 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0003a0002c0031a0026c0030 | a0002c0003t0002a0002c0031t0002a0026c0030t0002 | a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 others(12): Show |
62 | 394 | 0.1574 | 0 | c.119 others(4): Show |
p.Gln others(4): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 9/9 | 1231/1871 | 1198/1335 | 400/444 | chr19 | TogoVar | |||
KIR3DL1_chr19_54811468_54835778 | 54830273 | T | C | stop_lost | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0003a0002c0031a0026c0030 | a0002c0003t0002a0002c0031t0002a0026c0030t0002 | a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 others(12): Show |
62 | 394 | 0.1574 | 0 | c.133 others(4): Show |
p.Ter others(11): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 9/9 | 1366/1871 | 1333/1335 | 445/444 | chr19 | TogoVar | |||
KLK12_chr19_51024094_51040002 | 51031874 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(247): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(93): Show |
250 | 446 | 0.5605 | 0 | c.457 others(5): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(278): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0009a0001c0025others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(132): Show |
281 | 411 | 0.6837 | 1 | c.875 others(6): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KRT24_chr17_40692991_40708752 | 40701882 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(200): Show |
a0001a0009a0011 | a0001c0001a0001c0013a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(44): Show |
203 | 422 | 0.4810 | -1 | c.666 others(4): Show |
p.Asn others(5): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/8 | 725/1883 | 666/1578 | 222/525 | chr17 | TogoVar | |||
KRTAP1-1_chr17_41035541_41046450 | 41041247 | G | A | stop_gained | HIGH | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(75): Show |
a0002 | a0002c0002a0002c0006a0002c0012 | a0002c0002t0001a0002c0006t0001a0002c0012t0001 | a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0012t0001g0000 |
78 | 402 | 0.1940 | 0 | c.151 others(3): Show |
p.Gln others(3): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 204/910 | 151/534 | 51/177 | chr17 | TogoVar | |||
KRTAP10-4_chr21_44568729_44580371 | 44574964 | A | C | stop_lost | HIGH | HG01081.hp2 HG01243.hp2 HG01256.hp1 others(32): Show |
a0003a0004a0005others(10): Show | a0003c0004a0003c0026a0003c0043others(14): Show | a0003c0004t0006a0003c0026t0005a0003c0043t0006others(15): Show | a0003c0004t0006g0000 a0003c0026t0005g0000 a0003c0043t0006g0000 others(15): Show |
35 | 474 | 0.0738 | 0 | c.120 others(4): Show |
p.Ter others(11): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 1236/1643 | 1206/1206 | 402/401 | chr21 | TogoVar | |||
KRTAP4-16_chr17_41096502_41107209 | 41099365 | AAAATGTA others(7837): Show |
A | transcript_ablation | HIGH | NA20300.hp2 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 422 | 0.0024 | -7844 | c.-50 others(11): Show |
p.0? | KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
KRTAP4-5_chr17_41143924_41154825 | 41149311 | G | A | stop_gained | HIGH | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(4): Show |
a0008 | a0008c0008a0008c0012 | a0008c0008t0001a0008c0012t0006 | a0008c0008t0001g0000 a0008c0012t0006g0000 |
7 | 400 | 0.0175 | 0 | c.457 others(3): Show |
p.Arg others(4): Show |
KRTAP4-5 | ENSG00000198271.5 | transcript | ENST00000343246.6 | protein_coding | 1/1 | 515/902 | 457/546 | 153/181 | chr17 | TogoVar | |||
KRTAP9-2_chr17_41221648_41232652 | 41227018 | TACCCCAC others(5627): Show |
T | frameshift_variant others(4): Show |
HIGH | HG01884.hp2 HG02622.hp2 HG02630.hp1 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0000 | 11 | 435 | 0.0253 | -5634 | c.365 others(9): Show |
p.Tyr others(5): Show |
KRTAP9-2 | ENSG00000239886.5 | transcript | ENST00000377721.3 | protein_coding | 1/1 | 372/1005 | 365/525 | 122/174 | chr17 | TogoVar | |||
KRTAP9-6_chr17_41260378_41270860 | 41265460 | TTGTGACC others(5393): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(138): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 141 | 248 | 0.5685 | -5400 | c.84_ others(8): Show |
p.Ile others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 84/483 | 84/483 | 28/160 | chr17 | TogoVar | |||
LCN10_chr9_136733170_136747940 | 136740043 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(83): Show |
a0002a0004a0005 | a0002c0002a0004c0006a0005c0007 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(6): Show | a0002c0002t0002g0002 a0002c0002t0002g0017 a0002c0002t0002g0051 others(12): Show |
86 | 390 | 0.2205 | 0 | c.481 others(3): Show |
p.Gln others(4): Show |
LCN10 | ENSG00000187922.14 | transcript | ENST00000497771.6 | protein_coding | 5/6 | 518/1995 | 481/603 | 161/200 | chr9 | TogoVar | |||
LGALS9B_chr17_20444395_20472539 | 20467469 | A | ATC | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(248): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0025a0001c0026others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(46): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(160): Show |
251 | 432 | 0.5810 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
LGALS9B | ENSG00000170298.16 | transcript | ENST00000423676.8 | protein_coding | 1/11 | 70/1718 | 1/1071 | 1/356 | chr17 | TogoVar | |||
LILRA6_chr19_54231590_54247790 | 54240484 | G | A | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(188): Show |
a0002a0003a0004others(33): Show | a0002c0002a0002c0027a0002c0028others(39): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(70): Show | a0002c0002t0003g0002 a0002c0002t0003g0043 a0002c0002t0003g0141 others(95): Show |
191 | 448 | 0.4263 | 0 | c.104 others(4): Show |
p.Gln others(4): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 6/8 | 1087/3848 | 1048/1446 | 350/481 | chr19 | TogoVar | |||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(25): Show |
312 | 454 | 0.6872 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1081/2742 | 1050/1896 | 350/631 | chr19 | TogoVar | |||
LILRB3_chr19_54211278_54228007 | 54221872 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(21): Show |
196 | 454 | 0.4317 | 0 | c.614 others(3): Show |
p.Trp others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 4/13 | 645/2742 | 614/1896 | 205/631 | chr19 | TogoVar | |||
LILRB4_chr19_54657985_54673718 | 54667792 | AG | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp2 HG01074.hp1 HG01081.hp2 others(18): Show |
a0022a0032a0034others(9): Show | a0022c0025a0032c0062a0032c0064others(11): Show | a0022c0025t0001a0032c0062t0005a0032c0064t0001others(11): Show | a0022c0025t0001g0017 a0022c0025t0001g0213 a0032c0062t0005g0234 others(13): Show |
21 | 486 | 0.0432 | -1 | c.120 others(7): Show |
LILRB4 | ENSG00000186818.13 | transcript | ENST00000695418.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LILRB4_chr19_54657985_54673718 | 54667795 | T | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp2 HG01074.hp1 HG01081.hp2 others(18): Show |
a0022a0032a0034others(9): Show | a0022c0025a0032c0062a0032c0064others(11): Show | a0022c0025t0001a0032c0062t0005a0032c0064t0001others(11): Show | a0022c0025t0001g0017 a0022c0025t0001g0213 a0032c0062t0005g0234 others(13): Show |
21 | 486 | 0.0432 | 0 | c.120 others(6): Show |
LILRB4 | ENSG00000186818.13 | transcript | ENST00000695418.1 | protein_coding | 11/11 | chr19 | TogoVar | |||||||
LRRIQ1_chr12_85031351_85250105 | 85244867 | GA | G | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(50): Show |
a0002a0003a0004others(1): Show | a0002c0003a0003c0004a0004c0008others(2): Show | a0002c0003t0001a0003c0004t0001a0004c0008t0001others(2): Show | a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 others(50): Show |
53 | 225 | 0.2356 | -1 | c.510 others(5): Show |
p.Asn others(6): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 27/27 | 5186/5414 | 5105/5169 | 1702/1722 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
LRRK1_chr15_100914357_101083257 | 101061162 | C | CACTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(88): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0004a0001c0008others(34): Show | a0001c0002t0001a0001c0002t0028a0001c0002t0030others(78): Show | a0001c0002t0001g0199 a0001c0002t0001g0242 a0001c0002t0001g0252 others(88): Show |
91 | 336 | 0.2708 | 4 | c.468 others(17): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39331172 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00642.hp1 HG02818.hp2 HG02895.hp1 others(4): Show |
a0002a0005 | a0002c0004a0005c0008 | a0002c0004t0001a0005c0008t0001a0005c0008t0005others(1): Show | a0002c0004t0001g0202 a0005c0008t0001g0207 a0005c0008t0001g0210 others(4): Show |
7 | 60 | 0.1167 | 2 | c.461 others(15): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 36/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGEA10_chrX_152128310_152143577 | 152136870 | C | A | splice_donor_variant others(1): Show |
HIGH | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 280 | 0.0036 | 0 | c.-14 others(6): Show |
MAGEA10 | ENSG00000124260.12 | transcript | ENST00000370323.9 | protein_coding | 2/3 | chrX | TogoVar | |||||||
MAGEC3_chrX_141833316_141902832 | 141879368 | GCTACACC others(10): Show |
G | frameshift_variant | HIGH | HG00639.hp1 HG01175.hp2 HG01934.hp1 others(15): Show |
a0006 | a0006c0007a0006c0015a0006c0023others(2): Show | a0006c0007t0001a0006c0015t0001a0006c0023t0001others(2): Show | a0006c0007t0001g0017 a0006c0007t0001g0058 a0006c0007t0001g0073 others(14): Show |
18 | 296 | 0.0608 | -17 | c.455 others(24): Show |
p.Tyr others(5): Show |
MAGEC3 | ENSG00000165509.13 | transcript | ENST00000298296.1 | protein_coding | 3/8 | 455/1932 | 455/1932 | 152/643 | INFO_REALIGN_3_PRIME | chrX | TogoVar |