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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOXL_chr2_110727573_111123548 | 110995965 | GGTTCTTC others(47): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG01243.hp2 HG01891.hp1 HG02109.hp1 others(8): Show |
a0004a0008 | a0004c0005a0008c0008 | a0004c0005t0001a0004c0005t0002a0004c0005t0005others(2): Show | a0004c0005t0001g0069 a0004c0005t0001g0134 a0004c0005t0002g0003 others(8): Show |
11 | 148 | 0.0743 | -54 | c.124 others(66): Show |
p.Leu others(13): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/18 | 1470/2699 | 1246/1743 | 416/580 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
ADAM29_chr4_174913358_174983180 | 174977937 | G | GCAACCTC others(47): Show |
stop_gained others(1): Show |
HIGH | HG02886.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0024 a0005c0005t0002g0223 a0005c0005t0002g0225 |
4 | 327 | 0.0122 | 54 | c.243 others(63): Show |
p.Gln others(67): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 5/5 | 3107/3325 | 2437/2463 | 813/820 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
ADGRE1_chr19_6882579_6945450 | 6921702 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(88): Show |
a0004a0006a0007others(24): Show | a0004c0004a0006c0006a0007c0007others(24): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(40): Show | a0004c0004t0001g0003 a0004c0004t0001g0034 a0004c0004t0001g0050 others(86): Show |
91 | 336 | 0.2708 | 1 | c.162 others(7): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr19 | 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 | ||||||
ANKDD1B_chr5_75606453_75676846 | 75635851 | CCCAGT | C | frameshift_variant | HIGH | HG00741.hp1 HG01106.hp2 HG01167.hp2 others(12): Show |
a0006a0014a0022 | a0006c0009a0006c0015a0006c0034others(3): Show | a0006c0009t0007a0006c0015t0001a0006c0034t0003others(3): Show | a0006c0009t0007g0023 a0006c0009t0007g0139 a0006c0009t0007g0205 others(10): Show |
15 | 370 | 0.0405 | -5 | c.768 others(12): Show |
p.Gln others(5): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/14 | 950/2575 | 768/1587 | 256/528 | chr5 | 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 | |||
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 | ||||||
ANO7_chr2_241183677_241230976 | 241223950 | TCA | T | frameshift_variant | HIGH | HG01099.hp1 HG01884.hp2 HG01891.hp2 others(29): Show |
a0006a0009a0022 | a0006c0006a0006c0018a0009c0016others(3): Show | a0006c0006t0001a0006c0006t0003a0006c0006t0009others(9): Show | a0006c0006t0001g0006 a0006c0006t0001g0254 a0006c0006t0001g0255 others(26): Show |
32 | 394 | 0.0812 | -2 | c.257 others(11): Show |
p.Ser others(5): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 24/25 | 2676/4560 | 2579/2640 | 860/879 | chr2 | TogoVar | |||
APOBEC3B_chr22_38977347_38997779 | 38991390 | TG | T | frameshift_variant | HIGH | HG02145.hp2 HG02647.hp1 HG02896.hp1 others(3): Show |
a0007 | a0007c0012a0007c0013 | a0007c0012t0001a0007c0013t0001 | a0007c0012t0001g0007 a0007c0013t0001g0007 |
6 | 352 | 0.0170 | -1 | c.784 others(4): Show |
p.Val others(5): Show |
APOBEC3B | ENSG00000179750.16 | transcript | ENST00000333467.4 | protein_coding | 6/8 | 891/1590 | 784/1149 | 262/382 | INFO_REALIGN_3_PRIME | chr22 | 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 | |||
ASPM_chr1_197079127_197151669 | 197101686 | A | C | stop_gained | HIGH | HG02896.hp1 HG02897.hp1 HG02965.hp1 others(1): Show |
a0016a0017 | a0016c0025a0017c0024 | a0016c0025t0004a0017c0024t0004 | a0016c0025t0004g0024 a0017c0024t0004g0088 a0017c0024t0004g0089 |
4 | 294 | 0.0136 | 0 | c.756 others(4): Show |
p.Leu others(5): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 18/28 | 7797/10863 | 7565/10434 | 2522/3477 | chr1 | 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 | |||
B4GALNT2_chr17_49127769_49181840 | 49168885 | C | T | stop_gained | HIGH | HG01884.hp2 HG02818.hp2 HG02895.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0210 a0003c0003t0009g0239 a0003c0003t0009g0240 others(2): Show |
5 | 378 | 0.0132 | 0 | c.130 others(4): Show |
p.Arg others(4): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 10/11 | 1324/8657 | 1300/1521 | 434/506 | chr17 | TogoVar | |||
BTNL2_chr6_32388339_32412181 | 32403192 | TG | T | frameshift_variant | HIGH | HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show |
a0003a0006 | a0003c0004a0003c0008a0003c0012others(3): Show | a0003c0004t0002a0003c0008t0001a0003c0012t0002others(3): Show | a0003c0004t0002g0043 a0003c0004t0002g0071 a0003c0004t0002g0072 others(35): Show |
69 | 452 | 0.1527 | -1 | c.451 others(4): Show |
p.His others(5): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 3/8 | 509/1564 | 451/1449 | 151/482 | chr6 | TogoVar | |||
C12orf54_chr12_48477498_48501524 | 48494980 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01099.hp1 HG01167.hp1 HG02258.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0091 others(11): Show |
37 | 434 | 0.0853 | 0 | c.*40 others(5): Show |
C12orf54 | ENSG00000177627.11 | transcript | ENST00000548364.7 | protein_coding | 8/8 | chr12 | 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 | |||||||
C2CD3_chr11_74007718_74176002 | 74092563 | G | A | stop_gained | HIGH | HG02896.hp2 HG02897.hp1 |
a0015 | a0015c0019 | a0015c0019t0001 | a0015c0019t0001g0025 a0015c0019t0001g0028 |
2 | 316 | 0.0063 | 0 | c.337 others(4): Show |
p.Gln others(5): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 19/33 | 3580/7939 | 3370/7062 | 1124/2353 | chr11 | TogoVar | |||
C2orf50_chr2_11128128_11156317 | 11133332 | A | AC | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(32): Show | a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 others(59): Show |
77 | 378 | 0.2037 | 1 | c.-1d others(3): Show |
p.Met others(3): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 1/3 | 208/7902 | 1/489 | 1/162 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
C2orf92_chr2_97664713_97708066 | 97702739 | GA | G | frameshift_variant | HIGH | HG01243.hp1 HG01358.hp1 HG02451.hp1 others(12): Show |
a0004a0010 | a0004c0004a0010c0010 | a0004c0004t0001a0010c0010t0001 | a0004c0004t0001g0020 a0004c0004t0001g0079 a0004c0004t0001g0080 others(11): Show |
15 | 308 | 0.0487 | -1 | c.743 others(4): Show |
p.Asn others(5): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 8/8 | 819/1139 | 743/798 | 248/265 | INFO_REALIGN_3_PRIME | chr2 | 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 | ||||||
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 | ||
CCDC163_chr1_45488866_45505073 | 45497311 | G | A | stop_gained | HIGH | HG01167.hp1 HG01884.hp1 HG02055.hp2 others(16): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0004a0002c0002t0009a0005c0005t0004 | a0002c0002t0004g0007 a0002c0002t0004g0023 a0002c0002t0004g0025 others(4): Show |
19 | 406 | 0.0468 | 0 | c.250 others(3): Show |
p.Gln others(3): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 3/5 | 714/2095 | 250/438 | 84/145 | chr1 | TogoVar | |||
CCNL2_chr1_1380711_1404335 | 1398672 | CTAGAG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00544.hp1 HG00558.hp2 HG01109.hp1 others(49): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(2): Show | a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0042 others(34): Show |
52 | 368 | 0.1413 | -5 | c.289 others(16): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CD200R1L_chr3_112810711_112851864 | 112827063 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(45): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0001a0003c0006t0001 | a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0020 others(25): Show |
48 | 406 | 0.1182 | -1 | c.545 others(4): Show |
p.His others(5): Show |
CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/8 | 1143/1603 | 545/753 | 182/250 | chr3 | 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 | 133071270 | G | GC | frameshift_variant | HIGH | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(19): Show |
45 | 414 | 0.1087 | 1 | c.177 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1799/2381 | 1777/2262 | 593/753 | 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 | ||
CGB1_chr19_49030569_49041895 | 49035611 | T | G | stop_lost | HIGH | HG01243.hp1 HG01433.hp1 HG01884.hp1 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0010a0001c0004t0004a0002c0003t0004others(3): Show | a0001c0001t0010g0035 a0001c0004t0004g0009 a0002c0003t0004g0015 others(3): Show |
18 | 374 | 0.0481 | 0 | c.467 others(3): Show |
p.Ter others(11): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 3/3 | 651/693 | 467/468 | 156/155 | chr19 | 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 | ||||||
CPE_chr4_165374008_165503547 | 165467673 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp1 HG02486.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0158 a0001c0001t0001g0195 a0001c0001t0001g0197 others(5): Show |
8 | 329 | 0.0243 | 1 | c.505 others(6): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | 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 | ||||||
CR1_chr1_207491157_207646765 | 207545757 | GCACACAC others(18566): Show |
G | exon_loss_variant | HIGH | HG01891.hp1 HG02572.hp1 HG02723.hp2 others(6): Show |
a0006a0016 | a0006c0005a0016c0022 | a0006c0005t0002a0006c0005t0005a0016c0022t0002 | a0006c0005t0002g0136 a0006c0005t0002g0137 a0006c0005t0002g0138 others(6): Show |
9 | 341 | 0.0264 | -18573 | c.251 others(17): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 16/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CSN1S1_chr4_69926068_69951574 | 69936565 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG02258.hp2 HG02559.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0058 a0001c0001t0003g0020 a0001c0001t0003g0057 others(1): Show |
6 | 446 | 0.0135 | 0 | c.154 others(5): Show |
CSN1S1 | ENSG00000126545.14 | transcript | ENST00000246891.9 | protein_coding | 6/15 | chr4 | 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 | |||
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 | |||||||
CYP2A7_chr19_40870439_40887231 | 40875778 | G | T | stop_gained | HIGH | HG00738.hp1 HG01070.hp1 HG01071.hp2 others(19): Show |
a0006a0026a0027 | a0006c0010a0006c0016a0006c0021others(4): Show | a0006c0010t0001a0006c0016t0001a0006c0021t0007others(4): Show | a0006c0010t0001g0007 a0006c0016t0001g0015 a0006c0021t0007g0163 others(5): Show |
22 | 396 | 0.0556 | 0 | c.140 others(4): Show |
p.Ser others(4): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 9/9 | 1421/1760 | 1400/1485 | 467/494 | chr19 | TogoVar | |||
CYP2F1_chr19_41109432_41133381 | 41116202 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(17): Show | a0002c0002t0001g0034 a0002c0002t0002g0003 a0002c0002t0002g0007 others(89): Show |
114 | 372 | 0.3065 | 1 | c.15d others(3): Show |
p.Thr others(3): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 2/10 | 88/1847 | 16/1476 | 6/491 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CYP3A43_chr7_99823013_99871093 | 99836454 | TA | T | frameshift_variant others(1): Show |
HIGH | HG01109.hp2 HG01516.hp1 HG01517.hp1 others(34): Show |
a0002 | a0002c0002a0002c0010a0002c0011others(3): Show | a0002c0002t0001a0002c0010t0001a0002c0011t0001others(3): Show | a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 others(28): Show |
37 | 324 | 0.1142 | -1 | c.74d others(3): Show |
p.Tyr others(4): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 2/13 | 177/1707 | 74/1512 | 25/503 | chr7 | TogoVar | |||
CYP3A43_chr7_99823013_99871093 | 99863766 | AAAAATTA others(2166): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show |
a0002a0003a0006 | a0002c0010a0002c0011a0002c0014others(3): Show | a0002c0010t0001a0002c0011t0001a0002c0014t0001others(3): Show | a0002c0010t0001g0036 a0002c0010t0001g0171 a0002c0011t0001g0037 others(13): Show |
28 | 324 | 0.0864 | -2173 | c.141 others(12): Show |
p.Ile others(13): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 13/13 | 1417/1512 | 473/503 | INFO_REALIGN_3_PRIME | chr7 | 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 | |||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(1): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(23): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0026others(1): Show | a0001c0001t0002a0001c0001t0016a0001c0001t0027others(14): Show | a0001c0001t0002g0040 a0001c0001t0002g0103 a0001c0001t0002g0142 others(22): Show |
26 | 40 | 0.6500 | 8 | c.623 others(20): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DHRS4_chr14_23948770_23974279 | 23967493 | CTCTGGGA others(6779): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02145.hp2 HG02897.hp1 HG06807.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0031 others(4): Show |
8 | 265 | 0.0302 | -6786 | c.722 others(13): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 8/8 | chr14 | 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 | ||||||
DMBT1_chr10_122555754_122648736 | 122600824 | GTGGATGA others(12170): Show |
G | exon_loss_variant | HIGH | HG02896.hp1 HG02897.hp2 HG03041.hp2 others(2): Show |
a0018a0022 | a0018c0024a0018c0039a0022c0025 | a0018c0024t0003a0018c0039t0002a0022c0025t0003 | a0018c0024t0003g0022 a0018c0039t0002g0053 a0022c0025t0003g0162 others(1): Show |
5 | 277 | 0.0181 | -12177 | c.334 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 29/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0002a0003a0006others(21): Show | a0002c0007a0003c0003a0003c0054others(26): Show | a0002c0007t0001a0002c0007t0004a0003c0003t0001others(32): Show | a0002c0007t0001g0149 a0002c0007t0001g0166 a0002c0007t0001g0222 others(86): Show |
99 | 269 | 0.3680 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |