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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8863966 | GGC | G | frameshift_variant | HIGH | HG00280.hp2 HG00642.hp2 HG01496.hp1 others(8): Show |
a0004 | a0004c0006a0004c0052 | a0004c0006t0001a0004c0052t0001 | a0004c0006t0001g0002 a0004c0006t0001g0054 a0004c0006t0001g0056 others(7): Show |
11 | 366 | 0.0301 | -2 | c.367 others(11): Show |
p.Ala others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 29/36 | 3707/5127 | 3676/4365 | 1226/1454 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9093580 | CTATGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0013a0014 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(38): Show |
50 | 330 | 0.1515 | -5 | c.212 others(18): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | |||||||
ACTN3_chr11_66541903_66568334 | 66560624 | C | T | stop_gained | HIGH | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
a0002a0013a0014others(1): Show | a0002c0002a0002c0008a0002c0011others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(8): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(55): Show |
150 | 398 | 0.3769 | 0 | c.172 others(4): Show |
p.Arg others(4): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/21 | 1764/2882 | 1729/2706 | 577/901 | chr11 | TogoVar | |||
ACTR3C_chr7_150242212_150328545 | 150286477 | G | A | stop_gained | HIGH | HG00741.hp1 HG02698.hp1 HG02976.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0094 a0002c0003t0001g0137 a0002c0003t0001g0159 others(5): Show |
8 | 292 | 0.0274 | 0 | c.361 others(3): Show |
p.Gln others(4): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 5/8 | 489/1157 | 361/633 | 121/210 | chr7 | TogoVar | |||
ADGRV1_chr5_90553797_91169437 | 90756446 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00621.hp1 HG01167.hp1 HG01192.hp1 others(41): Show |
a0001a0005a0014others(16): Show | a0001c0001a0001c0008a0005c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(20): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(41): Show |
44 | 156 | 0.2821 | 1 | c.115 others(8): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 55/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADH1C_chr4_99331497_99357746 | 99347033 | C | A | stop_gained | HIGH | HG01257.hp1 HG01258.hp2 HG02698.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0022 | 3 | 358 | 0.0084 | 0 | c.232 others(3): Show |
p.Gly others(3): Show |
ADH1C | ENSG00000248144.6 | transcript | ENST00000515683.6 | protein_coding | 3/9 | 303/1454 | 232/1128 | 78/375 | chr4 | TogoVar | |||
AGAP9_chr10_47496854_47528638 | 47502198 | G | GTACCAGA | frameshift_variant | HIGH | HG00735.hp2 HG01361.hp2 HG01884.hp1 others(11): Show |
a0003a0006a0008others(1): Show | a0003c0003a0006c0008a0008c0009others(1): Show | a0003c0003t0001a0006c0008t0006a0008c0009t0001others(1): Show | a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0091 others(7): Show |
14 | 204 | 0.0686 | 7 | c.193 others(16): Show |
p.Thr others(5): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 8/8 | 2042/2387 | 1930/1977 | 644/658 | chr10 | TogoVar | |||
AGAP9_chr10_47496854_47528638 | 47502280 | CG | C | frameshift_variant | HIGH | HG00735.hp2 HG01361.hp2 HG02698.hp1 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0091 others(4): Show |
11 | 204 | 0.0539 | -1 | c.184 others(5): Show |
p.Asn others(5): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 8/8 | 1960/2387 | 1848/1977 | 616/658 | chr10 | TogoVar | |||
AGAP9_chr10_47496854_47528638 | 47523471 | T | TG | frameshift_variant | HIGH | HG00735.hp2 HG01361.hp2 HG02698.hp1 others(9): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0001 | a0002c0002t0002g0036 a0003c0003t0001g0015 a0003c0003t0001g0016 others(5): Show |
12 | 204 | 0.0588 | 1 | c.55d others(3): Show |
p.Gln others(4): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 1/8 | 167/2387 | 55/1977 | 19/658 | chr10 | 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 | ||||||
ANKDD1B_chr5_75606453_75676846 | 75669297 | G | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(138): Show |
a0001a0006a0007others(10): Show | a0001c0001a0001c0019a0001c0035others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(119): Show |
141 | 370 | 0.3811 | 0 | c.143 others(4): Show |
p.Trp others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 13/14 | 1621/2575 | 1439/1587 | 480/528 | chr5 | TogoVar | |||
ANKRD30A_chr10_37120598_37237567 | 37189558 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp1 HG02698.hp2 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0142 a0001c0012t0001g0193 |
2 | 284 | 0.0070 | 0 | c.251 others(6): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 25/35 | chr10 | TogoVar | |||||||
ANKRD36_chr2_97108153_97269521 | 97188507 | GGTGAGAG others(1883): Show |
G | exon_loss_variant | HIGH | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(44): Show |
a0002a0007a0013others(4): Show | a0002c0002a0007c0007a0007c0027others(5): Show | a0002c0002t0001a0007c0007t0001a0007c0007t0006others(6): Show | a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0133 others(44): Show |
47 | 209 | 0.2249 | -1890 | c.214 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 33/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97224796 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(143): Show |
a0001a0003a0004others(21): Show | a0001c0001a0001c0029a0001c0032others(33): Show | a0001c0001t0001a0001c0001t0004a0001c0029t0001others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(139): Show |
146 | 210 | 0.6952 | 1 | c.387 others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 66/75 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARPC5L_chr9_124857130_124882733 | 124862400 | A | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show |
113 | 402 | 0.2811 | 0 | c.-98 others(6): Show |
ARPC5L | ENSG00000136950.13 | transcript | ENST00000353214.6 | protein_coding | 1/5 | chr9 | 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 | |||
ATP6V1B1_chr2_70930900_70970431 | 70935956 | T | C | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(148): Show |
a0002 | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 others(129): Show |
151 | 438 | 0.3447 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | 57/1907 | 2/1542 | 1/513 | chr2 | TogoVar | |||
BRIX1_chr5_34910711_34930996 | 34925207 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 others(21): Show |
80 | 428 | 0.1869 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTN3A2_chr6_26360198_26383312 | 26368051 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00642.hp1 HG00733.hp1 others(32): Show |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0003a0004c0005t0049a0005c0006t0003 | a0004c0005t0003g0001 a0004c0005t0003g0029 a0004c0005t0003g0030 others(6): Show |
35 | 380 | 0.0921 | 0 | c.-6+ others(4): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 2/10 | chr6 | 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 | |||||||
CA14_chr1_150252774_150270078 | 150263368 | C | T | stop_gained | HIGH | HG02698.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0003 | 1 | 414 | 0.0024 | 0 | c.790 others(3): Show |
p.Arg others(4): Show |
CA14 | ENSG00000118298.12 | transcript | ENST00000369111.9 | protein_coding | 8/11 | 1145/1788 | 790/1014 | 264/337 | chr1 | TogoVar | |||
CACNA1A_chr19_13201442_13511479 | 13207516 | C | CG | frameshift_variant | HIGH | HG01106.hp1 HG01109.hp1 HG01255.hp2 others(15): Show |
a0009a0010a0013others(5): Show | a0009c0014a0009c0051a0009c0076others(13): Show | a0009c0014t0002a0009c0014t0020a0009c0051t0002others(14): Show | a0009c0014t0002g0048 a0009c0014t0002g0195 a0009c0014t0020g0175 others(15): Show |
18 | 216 | 0.0833 | 1 | c.731 others(5): Show |
p.Val others(6): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7572/8647 | 7317/7521 | 2439/2506 | chr19 | TogoVar | |||
CACNA1I_chr22_39565753_39694735 | 39679394 | C | CG | frameshift_variant | HIGH | HG00642.hp2 HG01099.hp1 HG01255.hp2 others(8): Show |
a0006a0009a0020 | a0006c0012a0006c0015a0009c0028others(2): Show | a0006c0012t0003a0006c0012t0004a0006c0012t0005others(6): Show | a0006c0012t0003g0013 a0006c0012t0004g0031 a0006c0012t0005g0120 others(8): Show |
11 | 234 | 0.0470 | 1 | c.534 others(5): Show |
p.Asp others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 32/37 | 5349/10002 | 5349/6672 | 1783/2223 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
CATSPER2_chr15_43623503_43653844 | 43632936 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 others(111): Show |
176 | 390 | 0.4513 | 0 | c.117 others(6): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | chr15 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44793589 | A | AC | frameshift_variant | HIGH | HG00738.hp2 HG01123.hp1 HG01884.hp1 others(44): Show |
a0002a0004a0009 | a0002c0002a0002c0007a0004c0004others(1): Show | a0002c0002t0001a0002c0007t0001a0004c0004t0001others(1): Show | a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0033 others(41): Show |
47 | 342 | 0.1374 | 1 | c.125 others(5): Show |
p.Gln others(5): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 8/11 | 1298/1576 | 1256/1425 | 419/474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CCDC138_chr2_108781771_108881578 | 108788018 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 others(75): Show |
79 | 217 | 0.3641 | 1 | c.94- others(5): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCHCR1_chr6_31137439_31162802 | 31157072 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(67): Show |
186 | 454 | 0.4097 | 0 | c.234 others(3): Show |
p.Trp others(3): Show |
CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 2/18 | 436/2971 | 234/2616 | 78/871 | chr6 | TogoVar | |||
CD177_chr19_43348686_43368172 | 43361169 | A | T | stop_gained | HIGH | HG00544.hp2 HG01106.hp2 HG01256.hp2 others(9): Show |
a0008a0014a0015others(3): Show | a0008c0013a0008c0029a0008c0036others(5): Show | a0008c0013t0002a0008c0029t0002a0008c0036t0001others(5): Show | a0008c0013t0002g0243 a0008c0013t0002g0295 a0008c0013t0002g0296 others(9): Show |
12 | 464 | 0.0259 | 0 | c.787 others(3): Show |
p.Lys others(4): Show |
CD177 | ENSG00000204936.10 | transcript | ENST00000618265.5 | protein_coding | 7/9 | 816/2195 | 787/1314 | 263/437 | chr19 | TogoVar | |||
CEACAM21_chr19_41571166_41591844 | 41586462 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show |
163 | 392 | 0.4158 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
CEL_chr9_133056981_133076861 | 133071337 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | HG01099.hp2 HG02055.hp2 HG02698.hp2 others(2): Show |
a0001a0011 | a0001c0001a0011c0012 | a0001c0001t0001a0001c0001t0003a0011c0012t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0039 others(2): Show |
5 | 393 | 0.0127 | -65 | c.184 others(74): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1865/2381 | 1843/2262 | 615/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071533 | G | GC | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(178): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show |
181 | 409 | 0.4425 | 1 | c.204 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071600 | G | GC | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(21): Show |
47 | 408 | 0.1152 | 1 | c.210 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2129/2381 | 2107/2262 | 703/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEP89_chr19_32870925_32976958 | 32879164 | A | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(46): Show |
a0004a0009 | a0004c0005a0004c0007a0009c0012 | a0004c0005t0005a0004c0005t0014a0004c0005t0015others(7): Show | a0004c0005t0005g0099 a0004c0005t0005g0100 a0004c0005t0005g0101 others(46): Show |
49 | 384 | 0.1276 | 0 | c.235 others(4): Show |
p.Ter others(11): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 19/19 | 2434/5673 | 2350/2352 | 784/783 | chr19 | 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 | |||
CHST12_chr7_2398611_2453484 | 2403653 | GCGCGAGG others(7): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG01106.hp1 HG02015.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0280a0001c0001t0281a0001c0001t0282others(5): Show | a0001c0001t0280g0132 a0001c0001t0281g0218 a0001c0001t0282g0217 others(5): Show |
8 | 342 | 0.0234 | -14 | c.-84 others(23): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/2 | 28960 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(351): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(247): Show |
354 | 422 | 0.8389 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show |
134 | 368 | 0.3641 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130471876 | AT | A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(100): Show |
a0001a0004a0006others(17): Show | a0001c0001a0001c0014a0001c0025others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0001t0002g0014 others(97): Show |
103 | 290 | 0.3552 | -1 | c.777 others(5): Show |
p.Leu others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/41 | 8110/8969 | 7772/7845 | 2591/2614 | INFO_REALIGN_3_PRIME | chr3 | 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 | |||
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 | ||||||
CXorf51A_chrX_146809106_146819744 | 146811328 | AGGTTTGT others(3365): Show |
A | exon_loss_variant | HIGH | HG01071.hp2 HG02683.hp1 HG02683.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 13 | 264 | 0.0492 | -3372 | c.24_ others(8): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 2/2 | chrX | 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 | 42128945 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00323.hp1 HG00733.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 25 | 416 | 0.0601 | 0 | c.506 others(5): Show |
CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 3/8 | chr22 | 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 | |||
DDIT4L_chr4_100180870_100195468 | 100187718 | GT | G | frameshift_variant | HIGH | HG00323.hp2 HG00733.hp2 HG00741.hp2 others(13): Show |
a0002 | a0002c0003 | a0002c0003t0007a0002c0003t0053a0002c0003t0055 | a0002c0003t0007g0008 a0002c0003t0053g0074 a0002c0003t0055g0075 |
16 | 450 | 0.0356 | -1 | c.540 others(4): Show |
p.Lys others(5): Show |
DDIT4L | ENSG00000145358.6 | transcript | ENST00000273990.6 | protein_coding | 3/3 | 755/2604 | 540/582 | 180/193 | chr4 | 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 | |||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(2): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0020others(40): Show | a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0097 others(66): Show |
69 | 83 | 0.8313 | 9 | c.623 others(21): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96916417 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 others(53): Show |
56 | 139 | 0.4029 | 1 | c.733 others(6): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122581581 | CAGAAATG others(12696): Show |
C | exon_loss_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(36): Show |
a0002a0003a0007others(4): Show | a0002c0007a0002c0008a0003c0003others(7): Show | a0002c0007t0003a0002c0007t0004a0002c0008t0002others(9): Show | a0002c0007t0003g0234 a0002c0007t0004g0233 a0002c0008t0002g0008 others(30): Show |
39 | 217 | 0.1797 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |