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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD18_chr4_127960406_128044953 | 127983049 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00609.hp1 NA18977.hp2 NA19005.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0020a0002c0002t0053 | a0002c0002t0001g0286 a0002c0002t0001g0322 a0002c0002t0020g0308 others(1): Show |
4 | 342 | 0.0117 | 0 | c.92+ others(4): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 2/12 | chr4 | 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 | |||
AKR1B10_chr7_134522567_134546412 | 134537643 | C | CA | frameshift_variant | HIGH | HG01261.hp2 HG01978.hp1 HG02055.hp2 others(14): Show |
a0004a0006 | a0004c0005a0004c0006a0004c0015others(1): Show | a0004c0005t0001a0004c0006t0001a0004c0006t0002others(4): Show | a0004c0005t0001g0004 a0004c0005t0001g0021 a0004c0005t0001g0023 others(12): Show |
17 | 446 | 0.0381 | 1 | c.730 others(4): Show |
p.Thr others(5): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 7/10 | 1076/1619 | 731/951 | 244/316 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(369): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(173): Show |
372 | 388 | 0.9588 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | 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 | ||||||
ANKRD30A_chr10_37120598_37237567 | 37170147 | GTTTTTTT others(11786): Show |
G | exon_loss_variant | HIGH | HG01981.hp1 HG02056.hp2 HG03098.hp1 others(15): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0005others(3): Show | a0001c0001t0001a0003c0003t0001a0005c0005t0002others(3): Show | a0001c0001t0001g0206 a0003c0003t0001g0045 a0005c0005t0002g0003 others(14): Show |
18 | 124 | 0.1452 | -11793 | c.225 others(18): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD35_chr1_145861564_145890866 | 145873259 | G | A | stop_gained | HIGH | NA18977.hp2 NA18998.hp2 |
a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0059 a0013c0017t0001g0061 |
2 | 398 | 0.0050 | 0 | c.151 others(4): Show |
p.Arg others(4): Show |
ANKRD35 | ENSG00000198483.13 | transcript | ENST00000355594.9 | protein_coding | 10/14 | 1618/3359 | 1510/3006 | 504/1001 | chr1 | 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 | ||||||
APBA3_chr19_3745772_3766692 | 3760243 | G | A | stop_gained | HIGH | NA18977.hp2 NA18989.hp2 NA19065.hp1 |
a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0055 a0008c0011t0002g0086 a0008c0011t0002g0087 |
3 | 448 | 0.0067 | 0 | c.22C others(2): Show |
p.Arg others(2): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 2/11 | 216/2176 | 22/1728 | 8/575 | chr19 | TogoVar | |||
ARHGEF5_chr7_144350402_144385632 | 144362670 | A | ATGGAGGC others(15): Show |
frameshift_variant others(1): Show |
HIGH | HG01496.hp1 HG01884.hp2 NA18951.hp1 others(6): Show |
a0009 | a0009c0026a0009c0070a0009c0071others(5): Show | a0009c0026t0001a0009c0070t0001a0009c0071t0001others(5): Show | a0009c0026t0001g0051 a0009c0026t0001g0052 a0009c0070t0001g0175 others(6): Show |
9 | 286 | 0.0315 | 22 | c.7_2 others(26): Show |
p.Ala others(4): Show |
ARHGEF5 | ENSG00000050327.15 | transcript | ENST00000056217.10 | protein_coding | 2/15 | 141/5482 | 29/4794 | 10/1597 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ARHGEF5_chr7_144350402_144385632 | 144365108 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00597.hp2 HG00673.hp1 others(14): Show |
a0009a0015a0018others(11): Show | a0009c0073a0015c0019a0018c0054others(12): Show | a0009c0073t0001a0015c0019t0002a0018c0054t0001others(12): Show | a0009c0073t0001g0055 a0015c0019t0002g0002 a0015c0019t0002g0005 others(14): Show |
17 | 286 | 0.0594 | 1 | c.244 others(5): Show |
p.Thr others(5): Show |
ARHGEF5 | ENSG00000050327.15 | transcript | ENST00000056217.10 | protein_coding | 2/15 | 2557/5482 | 2445/4794 | 815/1597 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ARL9_chr4_56500791_56529453 | 56505976 | TAAAC | T | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0003t0004a0003c0007t0001 | a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0015 others(39): Show |
61 | 414 | 0.1473 | -4 | c.118 others(11): Show |
p.Gln others(4): Show |
ARL9 | ENSG00000196503.5 | transcript | ENST00000640821.3 | protein_coding | 1/4 | 190/1447 | 118/798 | 40/265 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(420): Show |
frameshift_variant others(1): Show |
HIGH | NA18977.hp1 | a0037 | a0037c0055 | a0037c0055t0001 | a0037c0055t0001g0003 | 1 | 3 | 0.3333 | 427 | c.546 others(436): Show |
p.Ala others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | 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 | |||
ATM_chr11_108218067_108374102 | 108250683 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(31): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(155): Show |
159 | 299 | 0.5318 | 1 | c.123 others(7): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | INFO_REALIGN_3_PRIME | chr11 | 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 | ||||||
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 | |||||||
C14orf180_chr14_104574764_104595515 | 104587748 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 HG02056.hp1 HG02074.hp1 others(5): Show |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0008 | 8 | 432 | 0.0185 | 0 | c.112 others(5): Show |
C14orf180 | ENSG00000184601.11 | transcript | ENST00000557649.6 | protein_coding | 2/4 | chr14 | 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 | ||||||
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 | |||
CAMSAP3_chr19_7590863_7623304 | 7610688 | TCCCACCT others(4): Show |
T | splice_acceptor_variant others(2): Show |
HIGH | NA18977.hp1 | a0008 | a0008c0022 | a0008c0022t0001 | a0008c0022t0001g0144 | 1 | 356 | 0.0028 | -11 | c.901 others(23): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 6/16 | chr19 | TogoVar | |||||||
CARD8_chr19_48203086_48260912 | 48249131 | AGGTTGCA others(5998): Show |
A | exon_loss_variant | HIGH | NA18977.hp1 NA19001.hp2 |
a0001 | a0001c0004 | a0001c0004t0024 | a0001c0004t0024g0148 a0001c0004t0024g0149 |
2 | 360 | 0.0056 | -6005 | c.-25 others(16): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
CATSPERG_chr19_38330830_38375943 | 38362379 | T | TACTACTT others(22): Show |
frameshift_variant | HIGH | NA18977.hp1 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0195 | 1 | 374 | 0.0027 | 29 | c.216 others(38): Show |
p.Ser others(5): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 19/29 | 2252/3691 | 2192/3480 | 731/1159 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CBARP_chr19_1223287_1243005 | 1229582 | C | CG | frameshift_variant | HIGH | HG02055.hp1 HG03669.hp1 HG03831.hp1 others(11): Show |
a0004a0015a0016others(1): Show | a0004c0006a0004c0015a0004c0026others(3): Show | a0004c0006t0001a0004c0006t0004a0004c0006t0010others(7): Show | a0004c0006t0001g0067 a0004c0006t0001g0084 a0004c0006t0001g0120 others(11): Show |
14 | 406 | 0.0345 | 1 | c.171 others(5): Show |
p.Arg others(5): Show |
CBARP | ENSG00000099625.14 | transcript | ENST00000650044.2 | protein_coding | 10/10 | 1985/3281 | 1714/2118 | 572/705 | chr19 | TogoVar | |||
CBY2_chr13_45697320_45719559 | 45713882 | C | A | stop_gained | HIGH | HG00140.hp2 HG00597.hp2 HG01928.hp1 others(33): Show |
a0003 | a0003c0003a0003c0015a0003c0019 | a0003c0003t0001a0003c0015t0001a0003c0019t0001 | a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0007 others(6): Show |
36 | 438 | 0.0822 | 0 | c.857 others(3): Show |
p.Ser others(4): Show |
CBY2 | ENSG00000174015.10 | transcript | ENST00000310521.6 | protein_coding | 3/3 | 928/1605 | 857/1347 | 286/448 | chr13 | 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 | ||||||
CCDC198_chr14_57464300_57498857 | 57481662 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(132): Show |
260 | 360 | 0.7222 | 0 | c.394 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
CCDC7_chr10_32441140_32887864 | 32518506 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(44): Show |
a0001a0019 | a0001c0002a0019c0017 | a0001c0002t0001a0019c0017t0001 | a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 others(44): Show |
47 | 366 | 0.1284 | 0 | c.993 others(5): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 12/43 | chr10 | TogoVar | |||||||
CD40_chr20_46113314_46134858 | 46128304 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 others(44): Show |
118 | 339 | 0.3481 | 2 | c.647 others(13): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | 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 | 133071370 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00642.hp2 HG02145.hp2 NA18960.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(5): Show |
8 | 412 | 0.0194 | -32 | c.187 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1898/2381 | 1876/2262 | 626/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071435 | G | GC | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp2 HG01099.hp2 others(20): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0001t0002a0001c0022t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(7): Show |
23 | 384 | 0.0599 | 1 | c.194 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071469 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG02071.hp2 HG02109.hp2 HG02280.hp1 others(8): Show |
a0001a0016 | a0001c0001a0016c0011 | a0001c0001t0001a0001c0001t0002a0016c0011t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(6): Show |
11 | 413 | 0.0266 | -32 | c.197 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | 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 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(31): Show |
85 | 406 | 0.2094 | 1 | c.207 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | 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 | |||
CKM_chr19_45301413_45327875 | 45306752 | A | G | stop_lost | HIGH | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0247 | 1 | 390 | 0.0026 | 0 | c.114 others(4): Show |
p.Ter others(11): Show |
CKM | ENSG00000104879.5 | transcript | ENST00000221476.4 | protein_coding | 8/8 | 1217/1556 | 1144/1146 | 382/381 | chr19 | TogoVar | |||
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | HG02165.hp1 NA18964.hp1 NA18968.hp2 others(2): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0016 a0002c0004t0001g0016 a0002c0004t0001g0076 |
5 | 397 | 0.0126 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
CMA1_chr14_24500353_24513265 | 24507451 | G | T | stop_gained | HIGH | HG02015.hp2 NA18977.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0012 | 2 | 430 | 0.0047 | 0 | c.114 others(3): Show |
p.Tyr others(3): Show |
CMA1 | ENSG00000092009.10 | transcript | ENST00000250378.7 | protein_coding | 2/5 | 144/937 | 114/744 | 38/247 | chr14 | 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 | ||||||
COL9A2_chr1_40295489_40322286 | 40307478 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(38): Show |
a0001a0007a0008others(1): Show | a0001c0005a0001c0008a0001c0028others(3): Show | a0001c0005t0001a0001c0008t0001a0001c0028t0001others(3): Show | a0001c0005t0001g0005 a0001c0005t0001g0045 a0001c0005t0001g0046 others(19): Show |
41 | 436 | 0.0940 | 0 | c.976 others(3): Show |
p.Gln others(4): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 19/32 | 1065/2852 | 976/2070 | 326/689 | chr1 | 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 | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88467516 | G | A | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(239): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0004a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(233): Show |
242 | 384 | 0.6302 | 0 | c.215 others(4): Show |
p.Trp others(4): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2617/2695 | 2159/2205 | 720/734 | chr3 | TogoVar |