| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTN3_chr11_66541903_66568334 | 66563053 | G | T | stop_gained | HIGH | HG02615.hp1 HG02647.hp2 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0183a0007c0009t0001g0184 | 2 | 400 | 0.0050 | 0 | c.256 others(4): Show |
p.Glu others(4): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 21/21 | 2601/2882 | 2566/2706 | 856/901 | chr11 | TogoVar | ||
| ADGRV1_chr5_90553797_91169437 | 90756446 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00621.hp1 HG01167.hp1 HG01192.hp1 others(41): Show |
a0002a0005a0012others(16): Show | a0002c0001a0002c0008a0005c0006others(19): Show | a0002c0001t0001a0002c0001t0002a0002c0008t0001others(20): Show | a0002c0001t0001g0016a0002c0001t0001g0018a0002c0001t0001g0029others(41): Show | 44 | 158 | 0.2785 | 1 | c.115 others(8): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 55/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AGAP3_chr7_151081475_151149434 | 151086813 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(332): Show | 344 | 354 | 0.9718 | 1 | c.73d others(3): Show |
p.Ala others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 341/3494 | 74/2736 | 25/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AGAP3_chr7_151081475_151149434 | 151086821 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.81d others(3): Show |
p.Gln others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 349/3494 | 82/2736 | 28/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AGAP3_chr7_151081475_151149434 | 151086831 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.91d others(3): Show |
p.Val others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 359/3494 | 92/2736 | 31/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AHNAK2_chr14_104932253_104983374 | 104948543 | T | TCCCCCTC others(489): Show |
frameshift_variant others(1): Show |
HIGH | HG02615.hp2 | a0210 | a0210c0055 | a0210c0055t0003 | a0210c0055t0003g0114 | 1 | 356 | 0.0028 | 496 | c.690 others(505): Show |
p.Asp others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7044/18335 | 6907/17388 | 2303/5795 | chr14 | TogoVar | ||
| AHSG_chr3_186608060_186626318 | 186617185 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG02615.hp1 HG02976.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 2 | 440 | 0.0046 | 0 | c.410 others(5): Show |
AHSG | ENSG00000145192.13 | transcript | ENST00000411641.7 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
| AICDA_chr12_8597170_8617859 | 8605412 | C | CG | frameshift_variant | HIGH | HG01261.hp1 HG01361.hp2 HG01934.hp2 others(24): Show |
a0002a0007 | a0002c0003a0002c0004a0007c0010 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(5): Show | a0002c0003t0001g0036a0002c0003t0001g0045a0002c0003t0001g0085others(21): Show | 27 | 458 | 0.0590 | 1 | c.229 others(4): Show |
p.Arg others(4): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 3/5 | 321/2803 | 229/597 | 77/198 | chr12 | TogoVar | ||
| AKR7A2_chr1_19298965_19317144 | 19312096 | G | GAGACTAC others(12): Show |
frameshift_variant | HIGH | HG01106.hp2 HG02615.hp2 |
a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0063 | 2 | 460 | 0.0044 | 19 | c.10_ others(24): Show |
p.Ser others(4): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 1/7 | 48/1360 | 28/1080 | 10/359 | chr1 | TogoVar | ||
| ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 373 | 390 | 0.9564 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| ALG1L2_chr3_130076831_130103390 | 130096091 | GC | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(48): Show |
a0002a0003a0005 | a0002c0002a0002c0004a0002c0007others(6): Show | a0002c0002t0001a0002c0004t0001a0002c0004t0002others(8): Show | a0002c0002t0001g0005a0002c0002t0001g0008a0002c0002t0001g0019others(33): Show | 51 | 261 | 0.1954 | -1 | c.469 others(4): Show |
p.Leu others(5): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/8 | 655/969 | 469/648 | 157/215 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| AMD1_chr6_110869785_110900713 | 110892724 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(206): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(77): Show | 209 | 394 | 0.5305 | 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 | 75611679 | GGGGCTGC others(6): Show |
G | frameshift_variant | HIGH | HG02615.hp2 HG02723.hp2 HG03195.hp2 |
a0013 | a0013c0016a0013c0024 | a0013c0016t0001a0013c0024t0003 | a0013c0016t0001g0029a0013c0016t0001g0033a0013c0024t0003g0316 | 3 | 372 | 0.0081 | -13 | c.56_ others(18): Show |
p.Leu others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 1/14 | 238/2575 | 56/1587 | 19/528 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| ANKDD1B_chr5_75606453_75676846 | 75635851 | CCCAGT | C | frameshift_variant | HIGH | HG00741.hp1 HG01106.hp2 HG01167.hp2 others(12): Show |
a0006a0015a0020 | a0006c0009a0006c0015a0006c0034others(3): Show | a0006c0009t0007a0006c0015t0001a0006c0034t0003others(3): Show | a0006c0009t0007g0141a0006c0009t0007g0207a0006c0009t0007g0209others(11): Show | 15 | 372 | 0.0403 | -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(139): Show |
a0001a0006a0007others(10): Show | a0001c0001a0001c0019a0001c0035others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(122): Show | 142 | 372 | 0.3817 | 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 | ||
| ANO7_chr2_241183677_241230976 | 241223950 | TCA | T | frameshift_variant | HIGH | HG01099.hp1 HG01884.hp2 HG01891.hp2 others(29): Show |
a0006a0009a0029 | a0006c0006a0006c0018a0009c0016others(3): Show | a0006c0006t0001a0006c0006t0003a0006c0006t0009others(9): Show | a0006c0006t0001g0007a0006c0006t0001g0106a0006c0006t0001g0261others(29): Show | 32 | 396 | 0.0808 | -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 | ||
| APOL4_chr22_36184128_36206809 | 36191797 | ACT | A | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp2 HG00621.hp2 others(126): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0029others(13): Show | a0002c0002t0002g0007a0002c0002t0002g0009a0002c0002t0002g0011others(74): Show | 129 | 434 | 0.2972 | -2 | c.323 others(9): Show |
p.Glu others(5): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 4/4 | 399/3069 | 323/1047 | 108/348 | chr22 | TogoVar | ||
| ASAH2B_chr10_50734936_50764255 | 50745132 | T | C | start_lost | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(135): Show | 347 | 414 | 0.8382 | 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 | ||
| ASMTL_chrX_1398139_1457909 | 1403270 | CA | C | frameshift_variant others(1): Show |
HIGH | HG00323.hp2 HG00733.hp1 HG01070.hp2 others(8): Show |
a0000 | a0000c0007a0000c0030a0000c0039others(1): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(1): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(8): Show | 11 | 185 | 0.0595 | -1 | c.186 others(5): Show |
p.Ter others(5): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 13/13 | 1933/2065 | 1864/1866 | 622/621 | chrX | TogoVar | ||
| ATM_chr11_108218067_108374102 | 108250683 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(157): Show | 160 | 304 | 0.5263 | 1 | c.123 others(7): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ATP1A1_chr1_116368244_116409774 | 116398906 | AGTAAAAA others(16): Show |
A | frameshift_variant others(3): Show |
HIGH | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0068 | 1 | 336 | 0.0030 | -23 | c.229 others(35): Show |
p.Gly others(5): Show |
ATP1A1 | ENSG00000163399.16 | transcript | ENST00000295598.10 | protein_coding | 17/23 | 2294/3072 | 765/1023 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
| ATP6V1B1_chr2_70930900_70970431 | 70935956 | T | C | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(149): Show |
a0002a0004a0005others(4): Show | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0021a0002c0003t0001g0271a0002c0003t0001g0280others(144): Show | 152 | 440 | 0.3455 | 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 | ||
| ATP8B3_chr19_1777075_1817276 | 1783028 | T | C | stop_lost | HIGH | HG01070.hp1 HG01071.hp1 HG01192.hp2 others(25): Show |
a0000 | a0000c0020a0000c0023a0000c0027others(15): Show | a0000c0020t0007a0000c0020t0008a0000c0023t0007others(16): Show | a0000c0020t0007g0008a0000c0020t0007g0050a0000c0020t0007g0075others(25): Show | 28 | 390 | 0.0718 | 0 | c.390 others(4): Show |
p.Ter others(12): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 29/29 | 4142/5095 | 3903/3903 | 1301/1300 | chr19 | TogoVar | ||
| BTNL2_chr6_32388339_32412181 | 32403192 | TG | T | frameshift_variant | HIGH | HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show |
a0003a0006a0009others(1): Show | a0003c0004a0003c0008a0003c0021others(3): Show | a0003c0004t0002a0003c0008t0001a0003c0021t0002others(3): Show | a0003c0004t0002g0044a0003c0004t0002g0070a0003c0004t0002g0071others(35): Show | 69 | 453 | 0.1523 | -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 | ||
| C10orf90_chr10_126419997_126675693 | 126464816 | G | A | stop_gained | HIGH | HG01099.hp2 HG02615.hp2 |
a0008 | a0008c0015 | a0008c0015t0001a0008c0015t0006 | a0008c0015t0001g0160a0008c0015t0006g0157 | 2 | 218 | 0.0092 | 0 | c.170 others(4): Show |
p.Arg others(4): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 5/10 | 1918/3471 | 1705/2391 | 569/796 | chr10 | TogoVar | ||
| C11orf21_chr11_2290628_2306918 | 2300599 | C | T | stop_gained | HIGH | HG02055.hp2 HG02615.hp1 HG02717.hp2 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0007 | 6 | 426 | 0.0141 | 0 | c.68G others(2): Show |
p.Trp others(3): Show |
C11orf21 | ENSG00000110665.12 | transcript | ENST00000381153.8 | protein_coding | 2/4 | 178/2831 | 68/399 | 23/132 | chr11 | 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 | a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0091others(11): Show | 37 | 436 | 0.0849 | 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(403): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(115): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(241): Show | 406 | 414 | 0.9807 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | ||||||
| C17orf107_chr17_4894536_4907934 | 4900416 | G | A | stop_gained | HIGH | HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(4): Show | a0002c0002t0001g0001a0002c0002t0002g0001a0002c0002t0006g0001others(4): Show | 94 | 442 | 0.2127 | 0 | c.456 others(3): Show |
p.Trp others(4): Show |
C17orf107 | ENSG00000205710.4 | transcript | ENST00000381365.4 | protein_coding | 3/3 | 683/3201 | 456/573 | 152/190 | chr17 | TogoVar | ||
| C1orf127_chr1_10941475_10987076 | 10949622 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02056.hp1 HG02145.hp1 HG02155.hp1 others(20): Show |
a0003a0005a0008others(3): Show | a0003c0006a0003c0014a0005c0008others(4): Show | a0003c0006t0004a0003c0006t0012a0003c0014t0004others(5): Show | a0003c0006t0004g0034a0003c0006t0004g0086a0003c0006t0004g0113others(20): Show | 23 | 392 | 0.0587 | 0 | c.129 others(6): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 11/12 | chr1 | TogoVar | ||||||
| C1orf167_chr1_11757193_11794585 | 11769006 | C | T | stop_gained | HIGH | HG02615.hp2 | a0032 | a0032c0060 | a0032c0060t0003 | a0032c0060t0003g0114 | 1 | 350 | 0.0029 | 0 | c.157 others(4): Show |
p.Gln others(4): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/21 | 1759/4672 | 1576/4350 | 526/1449 | chr1 | 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 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(32): Show | a0001c0001t0003g0004a0001c0001t0003g0010a0001c0001t0003g0039others(59): Show | 77 | 380 | 0.2026 | 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 | |
| CACNA1A_chr19_13201442_13511479 | 13207516 | C | CG | frameshift_variant | HIGH | HG01106.hp1 HG01109.hp1 HG01255.hp2 others(15): Show |
a0009a0010a0014others(5): Show | a0009c0014a0009c0051a0009c0076others(13): Show | a0009c0014t0002a0009c0014t0046a0009c0051t0002others(14): Show | a0009c0014t0002g0048a0009c0014t0002g0195a0009c0014t0046g0176others(15): Show | 18 | 218 | 0.0826 | 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 |
a0006a0010a0015 | a0006c0012a0006c0015a0010c0028others(2): Show | a0006c0012t0003a0006c0012t0004a0006c0012t0005others(6): Show | a0006c0012t0003g0013a0006c0012t0004g0031a0006c0012t0005g0120others(8): Show | 11 | 236 | 0.0466 | 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 | |
| CACNA2D3_chr3_54117552_55079557 | 54386694 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG01169.hp2 HG01243.hp2 HG02258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0003others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0001g0080others(7): Show | 10 | 118 | 0.0848 | 1 | c.322 others(6): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 54386694 | G | GTT | splice_acceptor_variant others(1): Show |
HIGH | HG02109.hp1 HG02615.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0012a0001c0030a0001c0035others(2): Show | a0001c0012t0011a0001c0030t0001a0001c0035t0001others(2): Show | a0001c0012t0011g0036a0001c0030t0001g0028a0001c0035t0001g0049others(2): Show | 5 | 118 | 0.0424 | 2 | c.322 others(13): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(12): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02451.hp2 HG02615.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0019 | a0001c0001t0006g0017a0001c0001t0008g0180a0001c0001t0019g0124others(1): Show | 4 | 200 | 0.0200 | 19 | c.121 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | 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 | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(113): Show | 176 | 392 | 0.4490 | 0 | c.117 others(6): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | chr15 | TogoVar | ||||||
| CBY2_chr13_45697320_45719559 | 45713238 | C | A | stop_gained | HIGH | HG01070.hp1 HG01175.hp1 HG01243.hp2 others(19): Show |
a0004 | a0004c0004a0004c0013 | a0004c0004t0001a0004c0004t0002a0004c0013t0001 | a0004c0004t0001g0005a0004c0004t0001g0016a0004c0004t0001g0034others(6): Show | 22 | 440 | 0.0500 | 0 | c.213 others(3): Show |
p.Cys others(3): Show |
CBY2 | ENSG00000174015.10 | transcript | ENST00000310521.6 | protein_coding | 3/3 | 284/1605 | 213/1347 | 71/448 | chr13 | TogoVar | ||
| CCDC159_chr19_11341519_11359944 | 11354697 | G | T | splice_donor_variant others(1): Show |
HIGH | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 358 | 0.0028 | 0 | c.889 others(5): Show |
CCDC159 | ENSG00000183401.12 | transcript | ENST00000458408.6 | protein_coding | 10/10 | chr19 | TogoVar | ||||||
| CCDC163_chr1_45488866_45505073 | 45497311 | G | A | stop_gained | HIGH | HG01167.hp1 HG01884.hp1 HG02055.hp2 others(16): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0004a0002c0002t0009a0004c0005t0004 | a0002c0002t0004g0007a0002c0002t0004g0022a0002c0002t0004g0023others(5): Show | 19 | 408 | 0.0466 | 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 | ||
| CCDC198_chr14_57464300_57498857 | 57481662 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(133): Show | 261 | 362 | 0.7210 | 0 | c.394 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
| CCHCR1_chr6_31137439_31162802 | 31157072 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(67): Show | 187 | 455 | 0.4110 | 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 | ||
| CCL20_chr2_227808842_227822556 | 227815437 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp2 HG02145.hp1 HG02258.hp2 others(27): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0031others(4): Show | 30 | 448 | 0.0670 | 1 | c.77- others(5): Show |
CCL20 | ENSG00000115009.13 | transcript | ENST00000358813.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CD200R1L_chr3_112810711_112851864 | 112827063 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(46): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0001a0003c0006t0001 | a0003c0004t0001g0004a0003c0004t0001g0005a0003c0004t0001g0019others(25): Show | 49 | 408 | 0.1201 | -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 | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp1 HG01361.hp1 HG01361.hp2 others(39): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0048a0001c0001t0001g0071others(34): Show | 42 | 416 | 0.1010 | 1 | c.647 others(6): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDK18_chr1_205499669_205537790 | 205530696 | C | T | stop_gained | HIGH | HG02615.hp1 | a0005 | a0005c0008 | a0005c0008t0017 | a0005c0008t0017g0307 | 1 | 388 | 0.0026 | 0 | c.138 others(4): Show |
p.Gln others(4): Show |
CDK18 | ENSG00000117266.16 | transcript | ENST00000429964.7 | protein_coding | 15/16 | 1530/2986 | 1381/1425 | 461/474 | chr1 | TogoVar | ||
| CEACAM4_chr19_41614015_41632074 | 41626899 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00738.hp1 HG02258.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018a0001c0002t0001g0064a0001c0002t0001g0065others(3): Show | 8 | 437 | 0.0183 | 0 | c.64+ others(4): Show |
CEACAM4 | ENSG00000105352.11 | transcript | ENST00000221954.7 | protein_coding | 1/6 | chr19 | TogoVar | ||||||
| CELA1_chr12_51323442_51351679 | 51329814 | A | AG | frameshift_variant | HIGH | HG00099.hp2 HG00423.hp2 HG00639.hp2 others(43): Show |
a0002 | a0002c0004a0002c0007a0002c0009 | a0002c0004t0002a0002c0007t0002a0002c0009t0002 | a0002c0004t0002g0006a0002c0004t0002g0008a0002c0004t0002g0017others(19): Show | 46 | 406 | 0.1133 | 1 | c.628 others(4): Show |
p.Leu others(5): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 7/8 | 669/953 | 628/777 | 210/258 | chr12 | TogoVar | ||
| CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0004others(5): Show | a0002c0002t0002a0002c0003t0001a0002c0003t0002others(6): Show | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0018others(115): Show | 211 | 406 | 0.5197 | -1 | c.10d others(3): Show |
p.Leu others(3): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1/8 | 51/953 | 10/777 | 4/258 | chr12 | TogoVar |