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 | 111117814 | T | C | stop_lost | HIGH | HG02257.hp1 NA19043.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0005a0004c0005t0005 | a0001c0001t0005g0071 a0004c0005t0005g0045 |
2 | 148 | 0.0135 | 0 | c.174 others(4): Show |
p.Ter others(11): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 18/18 | 1965/2699 | 1741/1743 | 581/580 | chr2 | 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 | 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 | |||
ANKRD36C_chr2_95844548_95996824 | 95919491 | CTATTTCT others(1867): Show |
C | exon_loss_variant | HIGH | HG01884.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
a0001a0004 | a0001c0008a0001c0048a0004c0054 | a0001c0008t0001a0001c0048t0001a0004c0054t0001 | a0001c0008t0001g0002 a0001c0008t0001g0272 a0001c0008t0001g0274 others(5): Show |
10 | 295 | 0.0339 | -1874 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | |||||||
ANKRD36_chr2_97108153_97269521 | 97207905 | TTTATTAT others(1859): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00423.hp1 HG01099.hp2 others(46): Show |
a0003a0005a0011others(5): Show | a0003c0003a0003c0030a0005c0005others(8): Show | a0003c0003t0001a0003c0030t0001a0005c0005t0003others(9): Show | a0003c0003t0001g0003 a0003c0003t0001g0020 a0003c0003t0001g0034 others(44): Show |
49 | 210 | 0.2333 | -1866 | c.319 others(15): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 54/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97224796 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(143): Show |
a0001a0003a0004others(21): Show | a0001c0001a0001c0029a0001c0032others(33): Show | a0001c0001t0001a0001c0001t0004a0001c0029t0001others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(139): Show |
146 | 210 | 0.6952 | 1 | c.387 others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 66/75 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97264169 | TAGCATTG others(84): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00597.hp2 others(64): Show |
a0001a0003a0004others(11): Show | a0001c0001a0001c0034a0003c0003others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0034t0001others(18): Show | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0024 others(62): Show |
67 | 210 | 0.3190 | -91 | c.*7- others(100): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 76/76 | 14097 | 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 | |||
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 | a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0011 others(63): Show |
129 | 432 | 0.2986 | -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 | |||
ARPC5L_chr9_124857130_124882733 | 124862400 | A | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show |
113 | 402 | 0.2811 | 0 | c.-98 others(6): Show |
ARPC5L | ENSG00000136950.13 | transcript | ENST00000353214.6 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
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 | |||
ASTL_chr2_96117818_96143502 | 96123863 | AT | A | frameshift_variant | HIGH | HG01884.hp1 HG02109.hp2 HG02257.hp1 others(7): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0008 | 10 | 394 | 0.0254 | -1 | c.128 others(5): Show |
p.Met others(5): Show |
ASTL | ENSG00000188886.4 | transcript | ENST00000342380.3 | protein_coding | 9/9 | 1348/2394 | 1282/1296 | 428/431 | chr2 | 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 | ||||||
BEST1_chr11_61945351_61969461 | 61955084 | TCCACCC | T | splice_acceptor_variant others(2): Show |
HIGH | HG01496.hp1 HG02109.hp1 HG02257.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0045 others(2): Show |
14 | 408 | 0.0343 | -6 | c.153 others(17): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BPIFA2_chr20_33163159_33186412 | 33169148 | G | A | start_lost | HIGH | HG01884.hp1 HG02257.hp2 HG02258.hp2 others(6): Show |
a0003 | a0003c0006a0003c0007a0003c0009 | a0003c0006t0001a0003c0006t0002a0003c0007t0001others(1): Show | a0003c0006t0001g0025 a0003c0006t0001g0026 a0003c0006t0002g0014 others(5): Show |
9 | 376 | 0.0239 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
BPIFA2 | ENSG00000131050.11 | transcript | ENST00000354932.6 | protein_coding | 2/9 | 69/1042 | 3/750 | 1/249 | chr20 | TogoVar | |||
BRD4_chr19_15230519_15337539 | 15238833 | T | TG | frameshift_variant | HIGH | HG01175.hp2 HG01496.hp1 HG01952.hp2 others(9): Show |
a0002a0003a0009 | a0002c0007a0003c0006a0003c0011others(2): Show | a0002c0007t0003a0002c0007t0033a0003c0006t0001others(6): Show | a0002c0007t0003g0145 a0002c0007t0003g0168 a0002c0007t0033g0006 others(9): Show |
12 | 206 | 0.0583 | 1 | c.392 others(5): Show |
p.Gln others(6): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 19/20 | 4213/7231 | 3929/4089 | 1310/1362 | chr19 | TogoVar | |||
BZW2_chr7_16641181_16711517 | 16682767 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG01081.hp2 HG01109.hp1 HG01167.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 others(41): Show |
46 | 416 | 0.1106 | 1 | c.340 others(6): Show |
BZW2 | ENSG00000136261.16 | transcript | ENST00000258761.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | 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 | |||||||
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 | ||
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 | ||||||
C7orf33_chr7_148585766_148620860 | 148590928 | G | T | start_lost | HIGH | HG01070.hp2 HG01081.hp2 HG01928.hp1 others(6): Show |
a0003 | a0003c0003a0003c0008a0003c0009 | a0003c0003t0001a0003c0003t0002a0003c0008t0002others(1): Show | a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0002g0015 others(5): Show |
9 | 442 | 0.0204 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/3 | 163/1153 | 3/534 | 1/177 | chr7 | TogoVar | |||
CAPN15_chr16_522712_559636 | 536144 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp2 HG01070.hp2 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(29): Show | a0001c0001t0001g0018 a0001c0001t0001g0359 a0001c0001t0001g0361 others(41): Show |
46 | 408 | 0.1127 | 0 | c.-23 others(5): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | chr16 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 552143 | T | TG | frameshift_variant | HIGH | HG00735.hp1 HG00738.hp2 HG01099.hp1 others(21): Show |
a0002a0005a0012others(2): Show | a0002c0012a0002c0014a0002c0015others(12): Show | a0002c0012t0001a0002c0012t0002a0002c0014t0001others(18): Show | a0002c0012t0001g0260 a0002c0012t0002g0061 a0002c0012t0002g0259 others(21): Show |
24 | 408 | 0.0588 | 1 | c.244 others(5): Show |
p.Val others(5): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 10/14 | 2951/4888 | 2444/3261 | 815/1086 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
CATSPER2_chr15_43623503_43653844 | 43632936 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 others(111): Show |
176 | 390 | 0.4513 | 0 | c.117 others(6): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | chr15 | TogoVar | |||||||
CCDC138_chr2_108781771_108881578 | 108788018 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 others(75): Show |
79 | 217 | 0.3641 | 1 | c.94- others(5): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCHCR1_chr6_31137439_31162802 | 31157072 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(67): Show |
186 | 454 | 0.4097 | 0 | c.234 others(3): Show |
p.Trp others(3): Show |
CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 2/18 | 436/2971 | 234/2616 | 78/871 | chr6 | TogoVar | |||
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 | |||||||
CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(97): Show |
211 | 404 | 0.5223 | -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 | |||
CELA3B_chr1_21972022_21994354 | 21986630 | AGGAAGCC others(7717): Show |
A | exon_loss_variant | HIGH | HG01243.hp1 HG02257.hp2 HG03098.hp1 others(2): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0027 a0004c0005t0002g0130 a0004c0005t0002g0131 |
5 | 442 | 0.0113 | -7724 | c.743 others(9): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 8/8 | 761/906 | chr1 | 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 | |||
CES5A_chr16_55841154_55880373 | 55846597 | C | A | stop_gained | HIGH | HG02257.hp1 | a0027 | a0027c0058 | a0027c0058t0002 | a0027c0058t0002g0329 | 1 | 448 | 0.0022 | 0 | c.158 others(4): Show |
p.Gly others(4): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 13/13 | 1734/2177 | 1582/1728 | 528/575 | chr16 | 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 | 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 | |||
CLDN2_chrX_106915402_106935861 | 106928040 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG01123.hp2 HG02257.hp1 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0003 | a0001c0001t0001g0081 a0001c0001t0003g0020 a0001c0001t0003g0034 others(3): Show |
10 | 253 | 0.0395 | 1 | c.-17 others(7): Show |
CLDN2 | ENSG00000165376.12 | transcript | ENST00000336803.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206177196 | CATAGGAA others(13): Show |
C | frameshift_variant | HIGH | HG02257.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0015 | 1 | 320 | 0.0031 | -20 | c.32_ others(25): Show |
p.Glu others(4): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2/2 | 144/2025 | 32/1068 | 11/355 | chr2 | 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 | ||||||
CNOT10_chr3_32680188_32778875 | 32704796 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 others(12): Show |
15 | 352 | 0.0426 | 1 | c.118 others(6): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(134): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 others(134): Show |
137 | 215 | 0.6372 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45497073 | CGGGCCTC others(32): Show |
C | splice_donor_variant others(3): Show |
HIGH | HG02257.hp1 | a0019 | a0019c0067 | a0019c0067t0001 | a0019c0067t0001g0012 | 1 | 290 | 0.0034 | -39 | c.260 others(51): Show |
p.Pro others(13): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 31/42 | 2669/5408 | 2603/4020 | 868/1339 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
COL6A5_chr3_130340672_130489846 | 130471876 | AT | A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(100): Show |
a0001a0004a0006others(17): Show | a0001c0001a0001c0014a0001c0025others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0001t0002g0014 others(97): Show |
103 | 290 | 0.3552 | -1 | c.777 others(5): Show |
p.Leu others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/41 | 8110/8969 | 7772/7845 | 2591/2614 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
CPNE1_chr20_35621044_35669900 | 35627312 | C | CA | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp2 HG00642.hp1 others(43): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0001 | a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 others(40): Show |
46 | 270 | 0.1704 | 1 | c.120 others(5): Show |
p.Ala others(5): Show |
CPNE1 | ENSG00000214078.13 | transcript | ENST00000397443.7 | protein_coding | 14/16 | 1344/1952 | 1203/1614 | 401/537 | chr20 | 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 | ||||||
CRELD1_chr3_9928834_9950406 | 9940914 | A | AG | frameshift_variant | HIGH | HG00673.hp1 HG01175.hp2 HG01255.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0007 others(7): Show |
10 | 400 | 0.0250 | 1 | c.530 others(4): Show |
p.Ser others(5): Show |
CRELD1 | ENSG00000163703.20 | transcript | ENST00000452070.6 | protein_coding | 6/11 | 637/2196 | 531/1263 | 177/420 | INFO_REALIGN_3_PRIME | chr3 | 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 | 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 | |||
CYP3A5_chr7_99643194_99684996 | 99652770 | T | TA | frameshift_variant | HIGH | HG02055.hp2 HG02257.hp1 HG02486.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0051 others(3): Show |
14 | 290 | 0.0483 | 1 | c.103 others(5): Show |
p.Thr others(5): Show |
CYP3A5 | ENSG00000106258.16 | transcript | ENST00000222982.8 | protein_coding | 11/13 | 1135/1720 | 1035/1509 | 345/502 | chr7 | TogoVar |