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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEL_chr9_133056981_133076861 | 133071501 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(49): Show |
a0001a0002a0014 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(21): Show |
52 | 409 | 0.1271 | 1 | c.200 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2030/2381 | 2008/2262 | 670/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071505 | CCCCCGTG others(124): Show |
C | frameshift_variant | HIGH | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -131 | c.200 others(9): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2030/2381 | 2008/2262 | 670/753 | 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 | 133071535 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(39): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0020 | a0001c0001t0001a0001c0002t0001a0008c0020t0001 | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(11): Show |
42 | 414 | 0.1014 | -32 | c.204 others(41): 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 | 133071564 | GGCGCCCC others(25): Show |
G | frameshift_variant | HIGH | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 414 | 0.0024 | -32 | c.206 others(41): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2086/2381 | 2064/2262 | 688/753 | 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 | 133071567 | G | GCCCCCCC others(27): Show |
frameshift_variant others(1): Show |
HIGH | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 322 | 0.0031 | 34 | c.209 others(43): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2114/2381 | 2092/2262 | 698/753 | 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 | ||
CEL_chr9_133056981_133076861 | 133071604 | CCCCCGTG others(25): Show |
C | frameshift_variant | HIGH | NA18954.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 414 | 0.0024 | -32 | c.210 others(41): 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 | ||
CENPM_chr22_41933737_41952152 | 41939159 | ACCAGGCG others(37): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18939.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0139 | 1 | 256 | 0.0039 | -44 | c.403 others(53): Show |
p.Val others(5): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 6/6 | 515/938 | 403/543 | 135/180 | chr22 | TogoVar | |||
CENPV_chr17_16337537_16358469 | 16353140 | C | CG | frameshift_variant | HIGH | HG02055.hp1 HG02559.hp2 NA18967.hp1 others(4): Show |
a0003a0006 | a0003c0003a0006c0004 | a0003c0003t0001a0006c0004t0001 | a0003c0003t0001g0014 a0003c0003t0001g0069 a0003c0003t0001g0070 others(1): Show |
7 | 354 | 0.0198 | 1 | c.296 others(4): Show |
p.Thr others(5): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 1/5 | 329/1132 | 296/819 | 99/272 | chr17 | TogoVar | |||
CEP295_chr11_93656682_93735358 | 93675578 | AAGTAAAA others(15): Show |
A | frameshift_variant | HIGH | NA19076.hp1 | a0031 | a0031c0044 | a0031c0044t0001 | a0031c0044t0001g0080 | 1 | 352 | 0.0028 | -22 | c.538 others(29): Show |
p.Val others(5): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 6/30 | 657/8014 | 538/7806 | 180/2601 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
CEP295_chr11_93656682_93735358 | 93728681 | G | GGGGGGGG others(37): Show |
frameshift_variant others(1): Show |
HIGH | NA18986.hp2 | a0027 | a0027c0039 | a0027c0039t0001 | a0027c0039t0001g0301 | 1 | 352 | 0.0028 | 44 | c.716 others(53): Show |
p.Glu others(6): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 25/30 | 7282/8014 | 7163/7806 | 2388/2601 | chr11 | TogoVar | |||
CEP89_chr19_32870925_32976958 | 32923512 | G | GGACTCGC others(13): Show |
frameshift_variant | HIGH | NA19058.hp2 | a0015 | a0015c0020 | a0015c0020t0003 | a0015c0020t0003g0124 | 1 | 384 | 0.0026 | 20 | c.117 others(29): Show |
p.Gln others(5): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 12/19 | 1278/5673 | 1194/2352 | 398/783 | chr19 | TogoVar | |||
CER1_chr9_14714724_14727733 | 14720210 | GGAGGAAA others(40): Show |
G | frameshift_variant | HIGH | NA19075.hp2 | a0006 | a0006c0010 | a0006c0010t0003 | a0006c0010t0003g0026 | 1 | 458 | 0.0022 | -47 | c.637 others(54): Show |
p.Lys others(5): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 2/2 | 744/1231 | 637/804 | 213/267 | chr9 | TogoVar | |||
CFAP157_chr9_127701988_127721002 | 127713110 | A | AC | frameshift_variant | HIGH | HG00735.hp1 HG00741.hp2 HG01978.hp1 others(3): Show |
a0005 | a0005c0008a0005c0012 | a0005c0008t0002a0005c0012t0001 | a0005c0008t0002g0001 a0005c0008t0002g0010 a0005c0012t0001g0005 others(1): Show |
6 | 352 | 0.0170 | 1 | c.139 others(5): Show |
p.Arg others(5): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 8/9 | 1442/3704 | 1398/1563 | 466/520 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CFAP276_chr1_109100951_109117747 | 109108012 | T | TGTGTTGG others(463): Show |
frameshift_variant others(1): Show |
HIGH | HG01934.hp1 HG03098.hp2 NA20752.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0019 | 3 | 400 | 0.0075 | 470 | c.106 others(477): Show |
p.His others(4): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 2/5 | 174/655 | 106/510 | 36/169 | chr1 | TogoVar | |||
CFAP410_chr21_44323944_44344390 | 44330246 | G | GCTGCCCA others(27): Show |
frameshift_variant | HIGH | HG02647.hp1 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0152 | 1 | 434 | 0.0023 | 34 | c.689 others(41): Show |
p.Ser others(5): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 7/7 | 918/2221 | 722/771 | 241/256 | chr21 | TogoVar | |||
CFAP45_chr1_159867364_159905165 | 159888493 | A | AACACTGA others(49): Show |
frameshift_variant others(1): Show |
HIGH | HG01261.hp2 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0091 | 1 | 408 | 0.0025 | 56 | c.275 others(63): Show |
p.Pro others(4): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 4/12 | 342/1844 | 275/1656 | 92/551 | chr1 | TogoVar | |||
CFAP53_chr18_50222193_50271495 | 50238649 | CATTTATG others(114): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19059.hp2 | a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0107 | 1 | 400 | 0.0025 | -121 | c.121 others(12): Show |
p.Leu others(5): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/8 | 1360/1824 | 1214/1545 | 405/514 | chr18 | TogoVar | |||
CFAP65_chr2_218997846_219046516 | 219021144 | CTAGGTAC others(20): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19082.hp1 | a0039 | a0039c0027 | a0039c0027t0001 | a0039c0027t0001g0208 | 1 | 320 | 0.0031 | -27 | c.324 others(38): Show |
p.Tyr others(6): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 19/35 | 3240/5778 | 1080/1925 | chr2 | TogoVar | ||||
CFAP65_chr2_218997846_219046516 | 219021254 | T | TGCAGGGA others(3): Show |
frameshift_variant | HIGH | NA19082.hp1 | a0039 | a0039c0027 | a0039c0027t0001 | a0039c0027t0001g0208 | 1 | 320 | 0.0031 | 10 | c.315 others(19): Show |
p.Ser others(6): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 19/35 | 3233/5946 | 3156/5778 | 1052/1925 | chr2 | TogoVar | |||
CFAP73_chr12_113144724_113164276 | 113154501 | G | GC | frameshift_variant | HIGH | NA18939.hp2 NA18956.hp2 NA19010.hp1 others(3): Show |
a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0006c0008t0001 | a0003c0003t0001g0012 a0006c0008t0001g0069 |
6 | 324 | 0.0185 | 1 | c.557 others(4): Show |
p.Glu others(5): Show |
CFAP73 | ENSG00000186710.12 | transcript | ENST00000335621.11 | protein_coding | 5/8 | 692/1648 | 558/927 | 186/308 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
CFHR2_chr1_196938738_196964622 | 196950930 | AAATT | A | frameshift_variant | HIGH | HG02523.hp1 NA18945.hp1 NA18969.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0012 a0002c0004t0001g0050 a0002c0004t0001g0051 |
6 | 368 | 0.0163 | -4 | c.334 others(11): Show |
p.Ile others(5): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 3/5 | 477/1498 | 334/813 | 112/270 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
CGB2_chr19_49026890_49038238 | 49033021 | GTCTCCTA others(28): Show |
G | frameshift_variant | HIGH | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 374 | 0.0027 | -35 | c.293 others(42): Show |
p.Val others(4): Show |
CGB2 | ENSG00000104818.15 | transcript | ENST00000359342.7 | protein_coding | 3/3 | 499/715 | 293/492 | 98/163 | chr19 | TogoVar | |||
CHAF1A_chr19_4397640_4448397 | 4409436 | G | GGCCCGAG others(13): Show |
frameshift_variant | HIGH | NA19076.hp2 | a0016 | a0016c0024 | a0016c0024t0002 | a0016c0024t0002g0102 | 1 | 382 | 0.0026 | 20 | c.638 others(27): Show |
p.Lys others(5): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3/15 | 781/3366 | 658/2871 | 220/956 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CHD6_chr20_41397083_41623377 | 41421603 | TCACATCA others(37): Show |
T | frameshift_variant | HIGH | NA19086.hp1 | a0019 | a0019c0015 | a0019c0015t0007 | a0019c0015t0007g0307 | 1 | 322 | 0.0031 | -44 | c.498 others(53): Show |
p.Val others(6): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/37 | 5092/10719 | 4988/8148 | 1663/2715 | chr20 | TogoVar | |||
CHGA_chr14_92918150_92940285 | 92931582 | GAGGAGGA others(3): Show |
G | frameshift_variant | HIGH | HG03209.hp1 | a0017 | a0017c0032 | a0017c0032t0001 | a0017c0032t0001g0045 | 1 | 446 | 0.0022 | -10 | c.689 others(17): Show |
p.Glu others(5): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 6/8 | 899/1985 | 689/1374 | 230/457 | chr14 | TogoVar | |||
CHI3L2_chr1_111222713_111248440 | 111236137 | G | GCCCCCCC others(31): Show |
frameshift_variant | HIGH | NA19030.hp1 | a0010 | a0010c0014 | a0010c0014t0003 | a0010c0014t0003g0092 | 1 | 432 | 0.0023 | 38 | c.720 others(45): Show |
p.Ser others(5): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 7/11 | 738/1416 | 721/1173 | 241/390 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
CHIA_chr1_111285851_111325563 | 111319160 | A | ATACCCCT others(7): Show |
frameshift_variant | HIGH | NA19043.hp2 | a0016 | a0016c0021 | a0016c0021t0005 | a0016c0021t0005g0140 | 1 | 420 | 0.0024 | 14 | c.957 others(21): Show |
p.Ala others(5): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 10/12 | 1126/1696 | 958/1431 | 320/476 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
CHIA_chr1_111285851_111325563 | 111319160 | A | ATGCCCCT others(7): Show |
frameshift_variant | HIGH | HG02257.hp2 HG02486.hp1 HG02818.hp1 others(1): Show |
a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0110 a0008c0011t0002g0242 a0008c0011t0002g0257 others(1): Show |
4 | 423 | 0.0095 | 14 | c.961 others(21): Show |
p.Tyr others(5): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 10/12 | 1143/1696 | 975/1431 | 325/476 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
CHIT1_chr1_203211079_203234673 | 203217736 | TACTC | T | frameshift_variant others(3): Show |
HIGH | HG01891.hp1 HG02258.hp2 HG02280.hp2 others(7): Show |
a0007 | a0007c0007a0007c0023 | a0007c0007t0002a0007c0023t0002 | a0007c0007t0002g0021 a0007c0007t0002g0023 a0007c0007t0002g0073 others(2): Show |
10 | 482 | 0.0207 | -4 | c.115 others(15): Show |
p.Leu others(5): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1155/1401 | 385/466 | chr1 | TogoVar | ||||
CHMP4A_chr14_24204615_24218488 | 24210370 | A | AGAAGGTA others(6): Show |
frameshift_variant others(1): Show |
HIGH | NA19006.hp1 | a0007 | a0007c0005 | a0007c0005t0001 | a0007c0005t0001g0045 | 1 | 416 | 0.0024 | 13 | c.575 others(20): Show |
p.Thr others(5): Show |
CHMP4A | ENSG00000254505.11 | transcript | ENST00000347519.12 | protein_coding | 5/6 | 636/980 | 587/669 | 196/222 | chr14 | TogoVar | |||
CHRDL2_chr11_74691429_74736426 | 74713457 | C | CG | frameshift_variant | HIGH | HG00558.hp2 HG02027.hp2 NA18972.hp2 others(6): Show |
a0002 | a0002c0010a0002c0011a0002c0012others(3): Show | a0002c0010t0001a0002c0010t0002a0002c0011t0001others(5): Show | a0002c0010t0001g0072 a0002c0010t0002g0331 a0002c0011t0001g0130 others(6): Show |
9 | 389 | 0.0231 | 1 | c.217 others(4): Show |
p.Arg others(4): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 3/11 | 755/1908 | 217/1290 | 73/429 | chr11 | TogoVar | |||
CHRFAM7A_chr15_30355566_30398540 | 30373077 | TCA | T | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(50): Show |
a0001 | a0001c0001a0001c0007a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0047 others(49): Show |
53 | 132 | 0.4015 | -2 | c.227 others(9): Show |
p.Leu others(4): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 6/10 | 673/3411 | 227/1239 | 76/412 | chr15 | TogoVar | |||
CHRM1_chr11_62903679_62926363 | 62910396 | A | AC | frameshift_variant | HIGH | HG00639.hp2 HG01099.hp2 HG01106.hp2 others(12): Show |
a0002 | a0002c0004a0002c0007 | a0002c0004t0001a0002c0004t0003a0002c0007t0001 | a0002c0004t0001g0058 a0002c0004t0001g0064 a0002c0004t0001g0088 others(12): Show |
15 | 418 | 0.0359 | 1 | c.704 others(4): Show |
p.Gly others(5): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 2/2 | 928/2646 | 704/1383 | 235/460 | chr11 | TogoVar | |||
CHRNA4_chr20_63338223_63366349 | 63349743 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG01255.hp2 HG02080.hp2 others(4): Show |
a0002 | a0002c0006a0002c0014a0002c0017 | a0002c0006t0003a0002c0006t0004a0002c0006t0006others(4): Show | a0002c0006t0003g0020 a0002c0006t0004g0130 a0002c0006t0006g0127 others(4): Show |
7 | 166 | 0.0422 | 1 | c.166 others(5): Show |
p.His others(5): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 5/6 | 1851/5583 | 1667/1884 | 556/627 | chr20 | TogoVar | |||
CHTF18_chr16_783620_803074 | 794066 | C | CCAGGACC others(3): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0053 | a0053c0076 | a0053c0076t0001 | a0053c0076t0001g0214 | 1 | 426 | 0.0023 | 10 | c.181 others(19): Show |
p.Leu others(5): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 15/22 | 1892/3092 | 1827/2928 | 609/975 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
CIAPIN1_chr16_57423187_57452385 | 57431202 | A | AGGGGGGG others(42): Show |
frameshift_variant | HIGH | NA19000.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0172 | 1 | 388 | 0.0026 | 49 | c.694 others(56): Show |
p.Leu others(5): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 7/9 | 793/2021 | 694/939 | 232/312 | chr16 | TogoVar | |||
CIB1_chr15_90224975_90238941 | 90231150 | C | CCCGTGAG others(12): Show |
frameshift_variant | HIGH | HG03710.hp1 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0055 | 1 | 458 | 0.0022 | 19 | c.391 others(26): Show |
p.Gly others(5): Show |
CIB1 | ENSG00000185043.13 | transcript | ENST00000328649.11 | protein_coding | 5/7 | 465/1141 | 409/576 | 137/191 | chr15 | TogoVar | |||
CKS2_chr9_89306195_89321703 | 89315103 | G | GGTACATG others(61): Show |
frameshift_variant others(2): Show |
HIGH | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 438 | 0.0023 | 68 | c.60- others(76): Show |
p.His others(4): Show |
CKS2 | ENSG00000123975.5 | transcript | ENST00000314355.7 | protein_coding | 2/3 | 160/616 | 62/240 | 21/79 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CLASRP_chr19_45034045_45075956 | 45064224 | C | CT | frameshift_variant others(1): Show |
HIGH | HG02886.hp2 HG02970.hp2 NA18963.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0023 a0003c0003t0001g0090 a0003c0003t0001g0108 others(3): Show |
6 | 362 | 0.0166 | 1 | c.111 others(10): Show |
p.Arg others(5): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 12/21 | 1212/2229 | 1119/2025 | 373/674 | chr19 | TogoVar | |||
CLCN7_chr16_1439935_1480028 | 1457328 | T | TCGGCCCT others(193): Show |
frameshift_variant others(1): Show |
HIGH | HG01074.hp2 HG03239.hp1 |
a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0115 a0004c0014t0001g0116 |
2 | 397 | 0.0050 | 200 | c.747 others(207): Show |
p.Met others(5): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 9/25 | 801/4168 | 747/2418 | 249/805 | chr16 | TogoVar | |||
CLCNKA_chr1_16017036_16039050 | 16032231 | G | GAGGGCCC others(9198): Show |
frameshift_variant others(1): Show |
HIGH | NA19003.hp1 | a0022 | a0022c0030 | a0022c0030t0002 | a0022c0030t0002g0049 | 1 | 390 | 0.0026 | 9205 | c.180 others(9214): Show |
p.Ala others(5): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 17/20 | 1840/2491 | 1805/2064 | 602/687 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
CLDN4_chr7_73825996_73837690 | 73831717 | CCTGCTGC others(10): Show |
C | frameshift_variant | HIGH | HG01109.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0000 | 1 | 370 | 0.0027 | -17 | c.517 others(24): Show |
p.Leu others(5): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 1/1 | 723/1695 | 517/630 | 173/209 | chr7 | TogoVar | |||
CLDN9_chr16_3007923_3019505 | 3013938 | G | GC | frameshift_variant | HIGH | HG00642.hp1 HG01928.hp2 HG02145.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0003g0000 others(1): Show |
12 | 426 | 0.0282 | 1 | c.580 others(4): Show |
p.Arg others(5): Show |
CLDN9 | ENSG00000213937.4 | transcript | ENST00000445369.3 | protein_coding | 1/1 | 1021/1583 | 581/654 | 194/217 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
CLIP3_chr19_36009660_36037873 | 36017389 | TCACTTGA others(19): Show |
T | frameshift_variant | HIGH | NA19076.hp2 | a0003 | a0003c0009 | a0003c0009t0002 | a0003c0009t0002g0093 | 1 | 414 | 0.0024 | -26 | c.148 others(35): Show |
p.Val others(5): Show |
CLIP3 | ENSG00000105270.15 | transcript | ENST00000360535.9 | protein_coding | 12/14 | 1720/3350 | 1487/1644 | 496/547 | chr19 | TogoVar | |||
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12222): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 394 | 0.0051 | 12229 | c.236 others(12236): 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 | ||
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(24439): Show |
frameshift_variant others(1): Show |
HIGH | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 393 | 0.0025 | 24446 | c.236 others(24453): 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 | ||
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(24436): Show |
frameshift_variant others(1): Show |
HIGH | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 393 | 0.0025 | 24443 | c.236 others(24450): 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 |