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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
GPRC6A_chr6_116787085_116834083 | 116792598 | A | AGGT | stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00741.hp2 HG01074.hp2 others(57): Show |
a0003a0005a0010others(1): Show | a0003c0003a0005c0005a0005c0015others(3): Show | a0003c0003t0001a0005c0005t0001a0005c0015t0001others(3): Show | a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0011 others(35): Show |
60 | 366 | 0.1639 | 3 | c.232 others(12): Show |
p.Tyr others(15): Show |
GPRC6A | ENSG00000173612.10 | transcript | ENST00000310357.8 | protein_coding | 6/6 | 2394/2908 | 2324/2781 | 775/926 | chr6 | TogoVar | |||
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 | |||
GSTM1_chr1_109682817_109698745 | 109684397 | TTGATTGT others(14341): Show |
T | transcript_ablation | HIGH | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 308 | 0.0032 | -14348 | c.-34 others(11): Show |
p.0? | GSTM1 | ENSG00000134184.13 | transcript | ENST00000309851.10 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
HBA2_chr16_167876_178710 | 172240 | GTTCCTTC others(3797): Show |
G | transcript_ablation | HIGH | HG00642.hp2 HG00738.hp2 HG01884.hp2 others(11): Show |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 14 | 380 | 0.0368 | -3804 | c.-67 others(10): Show |
p.0? | HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 2/3 | 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 | |||
HID1_chr17_74945742_74977759 | 74963082 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp2 HG02622.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006a0001c0019 | a0001c0001t0001a0001c0006t0001a0001c0019t0002 | a0001c0001t0001g0188 a0001c0006t0001g0020 a0001c0006t0001g0021 others(3): Show |
11 | 362 | 0.0304 | 0 | c.388 others(5): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 3/18 | chr17 | TogoVar | |||||||
HLA-A_chr6_29937532_29950870 | 29943450 | G | T | stop_gained | HIGH | HG01884.hp2 HG02055.hp1 HG02280.hp2 others(10): Show |
a0013 | a0013c0011 | a0013c0011t0006 | a0013c0011t0006g0009 a0013c0011t0006g0024 |
13 | 402 | 0.0323 | 0 | c.526 others(3): Show |
p.Glu others(4): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3/8 | 548/1535 | 526/1098 | 176/365 | chr6 | 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 | |||
HLA-DRB1_chr6_32573775_32594848 | 32584364 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show |
a0002a0003a0005others(20): Show | a0002c0002a0003c0003a0005c0008others(21): Show | a0002c0002t0005a0003c0003t0002a0005c0008t0006others(22): Show | a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(53): Show |
131 | 203 | 0.6453 | 0 | c.115 others(3): Show |
p.Gln others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 221/1223 | 115/801 | 39/266 | chr6 | TogoVar | |||
HLA-DRB1_chr6_32573775_32594848 | 32584366 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
a0002a0003a0005others(21): Show | a0002c0002a0003c0003a0005c0008others(22): Show | a0002c0002t0005a0003c0003t0002a0005c0008t0006others(23): Show | a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(54): Show |
136 | 208 | 0.6538 | 0 | c.113 others(3): Show |
p.Trp others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 219/1223 | 113/801 | 38/266 | chr6 | TogoVar | |||
HP_chr16_72049505_72066055 | 72057480 | ACTGAGCA others(1708): Show |
A | exon_loss_variant | HIGH | HG00733.hp2 HG00738.hp2 HG01074.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0003g0004 others(5): Show |
58 | 424 | 0.1368 | -1715 | c.265 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 5/7 | 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 | |||
HSD17B13_chr4_87298794_87327882 | 87313944 | CG | C | frameshift_variant | HIGH | HG00639.hp2 HG01884.hp1 HG02257.hp1 others(25): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(2): Show | a0002c0002t0001g0038 a0002c0002t0001g0056 a0002c0002t0001g0179 others(19): Show |
28 | 439 | 0.0638 | -1 | c.573 others(4): Show |
p.Ala others(5): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 5/7 | 614/2368 | 573/903 | 191/300 | chr4 | 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 | |||
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 | |||
KCNMB3_chr3_179237771_179256114 | 179242978 | CT | C | frameshift_variant | HIGH | HG00735.hp2 HG00738.hp2 HG01069.hp1 others(31): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0004 | a0003c0003t0002g0002 a0003c0003t0002g0016 a0003c0003t0002g0025 others(5): Show |
34 | 368 | 0.0924 | -1 | c.753 others(4): Show |
p.Val others(5): Show |
KCNMB3 | ENSG00000171121.17 | transcript | ENST00000392685.7 | protein_coding | 3/3 | 877/1085 | 753/828 | 251/275 | chr3 | TogoVar | |||
KDM4A_chr1_43645149_43710518 | 43660291 | CA | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(167): Show |
191 | 368 | 0.5190 | -1 | c.315 others(6): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIAA0513_chr16_85022795_85099218 | 85071765 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(34): Show | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0240 others(103): Show |
111 | 385 | 0.2883 | 1 | c.330 others(6): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | 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 | 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 | |||
KLHL24_chr3_183630623_183689519 | 183635795 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01069.hp2 HG01071.hp2 HG01175.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0021a0001c0001t0035others(6): Show | a0001c0001t0009g0043 a0001c0001t0009g0045 a0001c0001t0009g0046 others(21): Show |
26 | 310 | 0.0839 | 0 | c.-12 others(6): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
KLRC2_chr12_10425599_10441010 | 10429008 | GTGATGCC others(11995): Show |
G | transcript_ablation | HIGH | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 63 | 219 | 0.2877 | -12002 | c.-50 others(11): Show |
p.0? | KLRC2 | ENSG00000205809.11 | transcript | ENST00000381902.7 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
KLRC3_chr12_10407315_10425595 | 10416666 | C | A | splice_donor_variant others(1): Show |
HIGH | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0049 |
10 | 446 | 0.0224 | 0 | c.587 others(5): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 5/6 | chr12 | 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 | |||
KRT26_chr17_40761238_40777201 | 40772004 | G | T | stop_gained | HIGH | HG02965.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0031 | 1 | 412 | 0.0024 | 0 | c.110 others(3): Show |
p.Ser others(3): Show |
KRT26 | ENSG00000186393.6 | transcript | ENST00000335552.5 | protein_coding | 1/8 | 198/1772 | 110/1407 | 37/468 | chr17 | TogoVar | |||
KRT37_chr17_41415547_41429585 | 41422807 | G | A | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(99): Show |
a0002a0008 | a0002c0002a0002c0020a0008c0009 | a0002c0002t0002a0002c0020t0002a0008c0009t0002 | a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0036 others(2): Show |
102 | 408 | 0.2500 | 0 | c.703 others(3): Show |
p.Gln others(4): Show |
KRT37 | ENSG00000108417.4 | transcript | ENST00000225550.4 | protein_coding | 3/7 | 765/1743 | 703/1350 | 235/449 | 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 | |||
KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(300): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0000 a0001c0005t0001g0000 a0001c0006t0001g0000 others(2): Show |
303 | 392 | 0.7730 | -1 | c.171 others(4): Show |
p.Tyr others(4): Show |
KRTAP19-6 | ENSG00000186925.6 | transcript | ENST00000334046.5 | protein_coding | 1/1 | 202/330 | 171/177 | 57/58 | chr21 | TogoVar | |||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGG others(98): Show |
stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0010a0003c0004t0001others(1): Show | a0001c0002t0001g0000 a0001c0002t0010g0000 a0003c0004t0001g0000 others(1): Show |
146 | 211 | 0.6919 | 105 | c.324 others(112): Show |
p.Cys others(118): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 324/372 | 108/123 | chr17 | TogoVar | |||
KRTAP4-8_chr17_41091981_41103142 | 41098083 | A | AT | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(232): Show |
a0001a0003a0005others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0011g0000 others(11): Show |
235 | 414 | 0.5676 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 59/1162 | 1/558 | 1/185 | 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 | |||
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 | |||
LPCAT3_chr12_6971185_7023476 | 6977132 | AC | A | splice_donor_variant others(1): Show |
HIGH | HG02258.hp1 HG02965.hp1 HG03486.hp1 others(16): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0002 a0002c0004t0002g0008 a0002c0004t0002g0036 others(10): Show |
19 | 280 | 0.0679 | -1 | c.*12 others(6): Show |
LPCAT3 | ENSG00000111684.11 | transcript | ENST00000261407.9 | protein_coding | 12/12 | chr12 | 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 | ||||||
MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(184): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(16): Show |
187 | 286 | 0.6538 | 0 | c.814 others(3): Show |
p.Arg others(4): Show |
MAGEB16 | ENSG00000189023.11 | transcript | ENST00000399988.6 | protein_coding | 2/2 | 957/1719 | 814/975 | 272/324 | chrX | TogoVar | |||
MARCHF7_chr2_159707506_159776027 | 159714599 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG01074.hp2 HG01516.hp2 others(6): Show |
a0004 | a0004c0007 | a0004c0007t0011 | a0004c0007t0011g0020 a0004c0007t0011g0174 a0004c0007t0011g0175 others(5): Show |
9 | 362 | 0.0249 | 0 | c.-10 others(6): Show |
MARCHF7 | ENSG00000136536.15 | transcript | ENST00000409175.6 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
MOK_chr14_102223836_102310164 | 102263549 | G | A | stop_gained | HIGH | HG01070.hp1 HG01071.hp2 HG01099.hp2 others(18): Show |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0009 a0003c0002t0002g0010 a0003c0002t0002g0014 others(18): Show |
21 | 250 | 0.0840 | 0 | c.280 others(3): Show |
p.Arg others(3): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 4/12 | 476/1909 | 280/1260 | 94/419 | chr14 | TogoVar | |||
MRPS34_chr16_1766895_1778134 | 1772796 | C | CACCT | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0004g0012 others(6): Show |
169 | 434 | 0.3894 | 4 | c.320 others(13): Show |
MRPS34 | ENSG00000074071.15 | transcript | ENST00000397375.7 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
MS4A12_chr11_60487778_60512430 | 60497529 | C | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(177): Show |
a0002 | a0002c0002a0002c0004a0002c0005others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(3): Show | a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0021 others(55): Show |
180 | 430 | 0.4186 | 0 | c.211 others(3): Show |
p.Gln others(3): Show |
MS4A12 | ENSG00000071203.9 | transcript | ENST00000016913.8 | protein_coding | 2/7 | 268/1167 | 211/804 | 71/267 | chr11 | TogoVar | |||
MS4A14_chr11_60391459_60422756 | 60397879 | ATT | A | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(248): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(87): Show |
251 | 426 | 0.5892 | -2 | c.167 others(9): Show |
p.Ile others(4): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 2/5 | 287/2908 | 167/2040 | 56/679 | chr11 | TogoVar | |||
MUC7_chr4_70467197_70487997 | 70474006 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(69): Show |
a0002a0007 | a0002c0002a0007c0010 | a0002c0002t0004a0002c0002t0008a0007c0010t0004 | a0002c0002t0004g0005 a0002c0002t0004g0010 a0002c0002t0004g0013 others(14): Show |
72 | 434 | 0.1659 | 0 | c.-15 others(5): Show |
MUC7 | ENSG00000171195.11 | transcript | ENST00000304887.6 | protein_coding | 1/2 | chr4 | TogoVar |