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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AADACL3_chr1_12711110_12733760 | 12716215 | C | A | stop_gained | HIGH | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show |
a0002 | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(11): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(26): Show | 73 | 432 | 0.1690 | 0 | c.39C others(2): Show |
p.Cys others(3): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | 106/4055 | 39/1224 | 13/407 | chr1 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20465682 | C | T | stop_gained | HIGH | HG00673.hp2 HG02071.hp1 HG02083.hp2 others(31): Show |
a0006 | a0006c0006a0006c0016 | a0006c0006t0002a0006c0006t0003a0006c0006t0009others(2): Show | a0006c0006t0002g0036a0006c0006t0002g0037a0006c0006t0002g0270others(28): Show | 34 | 436 | 0.0780 | 0 | c.343 others(3): Show |
p.Arg others(4): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3/14 | 512/2894 | 343/1734 | 115/577 | chr16 | TogoVar | ||
ACTN3_chr11_66541903_66568334 | 66560624 | C | T | stop_gained | HIGH | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
a0002a0011a0013others(1): Show | a0002c0002a0002c0008a0002c0011others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(8): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010others(67): Show | 150 | 400 | 0.3750 | 0 | c.172 others(4): Show |
p.Arg others(4): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/21 | 1764/2882 | 1729/2706 | 577/901 | chr11 | TogoVar | ||
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 | |
AKR1B10_chr7_134522567_134546412 | 134537643 | C | CA | frameshift_variant | HIGH | HG01261.hp2 HG01978.hp1 HG02055.hp2 others(14): Show |
a0004a0006 | a0004c0005a0004c0006a0004c0015others(1): Show | a0004c0005t0001a0004c0006t0001a0004c0006t0002others(4): Show | a0004c0005t0001g0004a0004c0005t0001g0020a0004c0005t0001g0047others(12): Show | 17 | 448 | 0.0380 | 1 | c.730 others(4): Show |
p.Thr others(5): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 7/10 | 1076/1619 | 731/951 | 244/316 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
AMER1_chrX_64180117_64210708 | 64190050 | GC | G | frameshift_variant | HIGH | NA18994.hp1 | a0012 | a0012c0009 | a0012c0009t0070 | a0012c0009t0070g0087 | 1 | 243 | 0.0041 | -1 | c.323 others(5): Show |
p.Gly others(6): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 3473/8407 | 3236/3408 | 1079/1135 | chrX | TogoVar | ||
AMER1_chrX_64180117_64210708 | 64190367 | AG | A | frameshift_variant | HIGH | NA18994.hp1 | a0012 | a0012c0009 | a0012c0009t0070 | a0012c0009t0070g0087 | 1 | 243 | 0.0041 | -1 | c.291 others(5): Show |
p.Trp others(5): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 3156/8407 | 2919/3408 | 973/1135 | chrX | TogoVar | ||
AMER1_chrX_64180117_64210708 | 64190428 | TG | T | frameshift_variant | HIGH | NA18994.hp1 | a0012 | a0012c0009 | a0012c0009t0070 | a0012c0009t0070g0087 | 1 | 243 | 0.0041 | -1 | c.285 others(5): Show |
p.Pro others(5): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 3095/8407 | 2858/3408 | 953/1135 | chrX | TogoVar | ||
AMER1_chrX_64180117_64210708 | 64190476 | T | TC | frameshift_variant | HIGH | NA18994.hp1 | a0012 | a0012c0009 | a0012c0009t0070 | a0012c0009t0070g0087 | 1 | 243 | 0.0041 | 1 | c.281 others(10): Show |
p.Gly others(5): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 3047/8407 | 2810/3408 | 937/1135 | chrX | TogoVar | ||
AMER1_chrX_64180117_64210708 | 64190549 | TGGACCAA others(3): Show |
T | frameshift_variant | HIGH | NA18994.hp1 | a0012 | a0012c0009 | a0012c0009t0070 | a0012c0009t0070g0087 | 1 | 243 | 0.0041 | -10 | c.272 others(19): Show |
p.His others(5): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 2974/8407 | 2728/3408 | 910/1135 | chrX | TogoVar | ||
ANO6_chr12_45211095_45437349 | 45377477 | ATAGAAGC others(4750): Show |
A | exon_loss_variant others(4): Show |
HIGH | NA18994.hp1 | a0010 | a0010c0014 | a0010c0014t0003 | a0010c0014t0003g0163 | 1 | 234 | 0.0043 | -4757 | c.110 others(18): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ANO7_chr2_241183677_241230976 | 241218270 | TGCCGCGC others(81): Show |
T | frameshift_variant | HIGH | NA18994.hp1 | a0017 | a0017c0035 | a0017c0035t0002 | a0017c0035t0002g0343 | 1 | 396 | 0.0025 | -88 | c.221 others(97): Show |
p.Ala others(5): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 21/25 | 2315/4560 | 2218/2640 | 740/879 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
ANO9_chr11_412938_447011 | 429613 | C | CG | frameshift_variant | HIGH | HG00323.hp2 HG00741.hp1 HG01169.hp1 others(6): Show |
a0006a0010a0014 | a0006c0009a0006c0019a0010c0014others(1): Show | a0006c0009t0001a0006c0019t0001a0010c0014t0001others(1): Show | a0006c0009t0001g0124a0006c0009t0001g0179a0006c0009t0001g0180others(6): Show | 9 | 286 | 0.0315 | 1 | c.871 others(4): Show |
p.Arg others(5): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 11/23 | 956/2867 | 871/2349 | 291/782 | chr11 | TogoVar | ||
ANTKMT_chr16_716146_727590 | 721792 | TGCCCACA others(10): Show |
T | frameshift_variant | HIGH | NA18994.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0012 | 1 | 392 | 0.0026 | -17 | c.272 others(24): Show |
p.Leu others(4): Show |
ANTKMT | ENSG00000103254.10 | transcript | ENST00000569529.6 | protein_coding | 3/5 | 401/870 | 272/708 | 91/235 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
AP2A2_chr11_920870_1017240 | 993808 | C | CACCCGCG others(18): Show |
frameshift_variant | HIGH | NA18994.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0262 | 1 | 268 | 0.0037 | 25 | c.160 others(34): Show |
p.Ile others(5): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 13/22 | 1785/4587 | 1633/2820 | 545/939 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
ARL9_chr4_56500791_56529453 | 56505976 | TAAAC | T | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0003t0004a0003c0007t0001 | a0003c0003t0001g0008a0003c0003t0001g0010a0003c0003t0001g0015others(41): Show | 61 | 416 | 0.1466 | -4 | c.118 others(11): Show |
p.Gln others(4): Show |
ARL9 | ENSG00000196503.5 | transcript | ENST00000640821.3 | protein_coding | 1/4 | 190/1447 | 118/798 | 40/265 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
ARPC5L_chr9_124857130_124882733 | 124862400 | A | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(111): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0019others(42): Show | 114 | 404 | 0.2822 | 0 | c.-98 others(6): Show |
ARPC5L | ENSG00000136950.13 | transcript | ENST00000353214.6 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
ARR3_chrX_70263334_70286840 | 70276151 | G | GA | frameshift_variant | HIGH | NA18994.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0062 | 1 | 319 | 0.0031 | 1 | c.219 others(4): Show |
p.Asp others(4): Show |
ARR3 | ENSG00000120500.19 | transcript | ENST00000307959.9 | protein_coding | 6/17 | 289/1310 | 220/1167 | 74/388 | INFO_REALIGN_3_PRIME | chrX | 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(28): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(163): Show | 173 | 362 | 0.4779 | -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(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 | ||
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 | ||
BTN3A2_chr6_26360198_26383312 | 26368051 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00642.hp1 HG00733.hp1 others(32): Show |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0003a0004c0005t0049a0005c0006t0003 | a0004c0005t0003g0001a0004c0005t0003g0029a0004c0005t0003g0030others(6): Show | 35 | 382 | 0.0916 | 0 | c.-6+ others(4): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 2/10 | chr6 | 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 | ||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(7): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00609.hp2 HG00738.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0032a0001c0001t0001g0143a0001c0001t0001g0190others(21): Show | 24 | 200 | 0.1200 | 14 | c.121 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAPN12_chr19_38725192_38749474 | 38737261 | G | GC | frameshift_variant | HIGH | HG01099.hp1 HG02056.hp2 HG02145.hp2 others(12): Show |
a0004a0024a0025 | a0004c0008a0004c0010a0004c0027others(3): Show | a0004c0008t0001a0004c0008t0003a0004c0008t0005others(6): Show | a0004c0008t0001g0135a0004c0008t0001g0146a0004c0008t0001g0147others(12): Show | 15 | 342 | 0.0439 | 1 | c.125 others(5): Show |
p.Arg others(5): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 10/21 | 1565/3129 | 1256/2160 | 419/719 | chr19 | TogoVar | ||
CAPN15_chr16_522712_559636 | 552143 | T | TG | frameshift_variant | HIGH | HG00735.hp1 HG00738.hp2 HG01099.hp1 others(21): Show |
a0003a0005a0015others(5): Show | a0003c0012a0003c0014a0003c0047others(12): Show | a0003c0012t0001a0003c0012t0002a0003c0014t0001others(18): Show | a0003c0012t0001g0261a0003c0012t0002g0061a0003c0012t0002g0260others(21): Show | 24 | 410 | 0.0585 | 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 | |
CARD8_chr19_48203086_48260912 | 48231760 | C | CTT | frameshift_variant | HIGH | HG00642.hp2 HG01109.hp1 HG02135.hp2 others(16): Show |
a0003 | a0003c0006a0003c0009a0003c0019 | a0003c0006t0003a0003c0006t0006a0003c0006t0016others(3): Show | a0003c0006t0003g0041a0003c0006t0003g0045a0003c0006t0003g0162others(16): Show | 19 | 362 | 0.0525 | 2 | c.440 others(9): Show |
p.Val others(5): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 8/14 | 813/5610 | 441/1614 | 147/537 | chr19 | 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 | ||||||
CBX8_chr17_79787132_79802077 | 79795262 | A | AC | frameshift_variant | HIGH | HG00738.hp2 HG01261.hp2 HG02055.hp2 others(7): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0044a0003c0003t0002g0045a0003c0003t0003g0047others(6): Show | 10 | 412 | 0.0243 | 1 | c.542 others(4): Show |
p.Thr others(5): Show |
CBX8 | ENSG00000141570.11 | transcript | ENST00000269385.9 | protein_coding | 5/5 | 621/3752 | 542/1170 | 181/389 | chr17 | TogoVar | ||
CCDC121_chr2_27620638_27634012 | 27627592 | G | A | stop_gained | HIGH | NA18954.hp2 NA18957.hp2 NA18981.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 7 | 384 | 0.0182 | 0 | c.208 others(3): Show |
p.Arg others(3): Show |
CCDC121 | ENSG00000176714.10 | transcript | ENST00000324364.4 | protein_coding | 2/2 | 389/2343 | 208/837 | 70/278 | chr2 | 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 | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(75): Show | 79 | 220 | 0.3591 | 1 | c.94- others(5): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 1/14 | 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 | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG01433.hp1 HG02145.hp1 HG03927.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0061others(6): Show | 15 | 416 | 0.0361 | 3 | c.647 others(14): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | 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 | ||
CES5A_chr16_55841154_55880373 | 55871624 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18992.hp1 NA18994.hp1 NA19000.hp1 others(1): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0004c0006 | a0001c0002t0005a0002c0003t0007a0004c0006t0005 | a0001c0002t0005g0171a0002c0003t0007g0027a0004c0006t0005g0159 | 4 | 449 | 0.0089 | 0 | c.417 others(5): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 3/12 | chr16 | 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 |
a0001a0009a0013others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(41): Show | 175 | 484 | 0.3616 | 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 | ||
CLDN7_chr17_7254903_7267478 | 7260504 | C | T | stop_gained | HIGH | NA18994.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0022 | 1 | 418 | 0.0024 | 0 | c.506 others(3): Show |
p.Trp others(4): Show |
CLDN7 | ENSG00000181885.18 | transcript | ENST00000360325.11 | protein_coding | 4/4 | 941/1542 | 506/636 | 169/211 | chr17 | 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 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 134 | 370 | 0.3622 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COQ10A_chr12_56261942_56275966 | 56267121 | G | T | start_lost | HIGH | HG00642.hp1 HG01106.hp1 HG01516.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 17 | 332 | 0.0512 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
COQ10A | ENSG00000135469.14 | transcript | ENST00000308197.10 | protein_coding | 1/5 | 180/1570 | 3/744 | 1/247 | chr12 | TogoVar | ||
CPN2_chr3_194334768_194356328 | 194341178 | G | A | stop_gained | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(133): Show |
a0002a0005a0010others(4): Show | a0002c0002a0002c0011a0002c0014others(7): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0007others(17): Show | a0002c0002t0003g0002a0002c0002t0003g0004a0002c0002t0003g0006others(62): Show | 136 | 440 | 0.3091 | 0 | c.152 others(4): Show |
p.Gln others(4): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 2/2 | 1615/3025 | 1525/1638 | 509/545 | chr3 | TogoVar | ||
CPNE7_chr16_89570758_89602246 | 89584767 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp2 HG00621.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0318a0001c0002t0002g0316a0001c0002t0003g0313others(22): Show | 28 | 348 | 0.0805 | 1 | c.508 others(6): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0021a0001c0037others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(270): Show | 276 | 360 | 0.7667 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CSF1_chr1_109905849_109935992 | 109923714 | A | AC | frameshift_variant | HIGH | HG00673.hp1 HG01106.hp1 HG01123.hp1 others(27): Show |
a0004a0005a0008others(2): Show | a0004c0007a0004c0010a0004c0013others(6): Show | a0004c0007t0001a0004c0007t0002a0004c0007t0004others(12): Show | a0004c0007t0001g0015a0004c0007t0002g0002a0004c0007t0002g0005others(25): Show | 30 | 434 | 0.0691 | 1 | c.109 others(5): Show |
p.Ala others(5): Show |
CSF1 | ENSG00000184371.14 | transcript | ENST00000329608.11 | protein_coding | 6/9 | 1271/3994 | 1096/1665 | 366/554 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(317): Show | 412 | 448 | 0.9196 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
CYP7B1_chr8_64585851_64803737 | 64624519 | A | T | stop_gained | HIGH | NA18994.hp1 | a0003 | a0003c0003 | a0003c0003t0055 | a0003c0003t0055g0155 | 1 | 258 | 0.0039 | 0 | c.143 others(3): Show |
p.Leu others(3): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 2/6 | 293/7462 | 143/1521 | 48/506 | chr8 | TogoVar | ||
DAZ3_chrY_24758069_24818393 | 24782064 | GTTTACCT others(11882): Show |
G | exon_loss_variant | HIGH | HG01258.hp2 HG02071.hp1 NA18965.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0010a0003c0003t0001g0014a0003c0003t0001g0032others(3): Show | 6 | 45 | 0.1333 | -11889 | c.787 others(17): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 15/19 | chrY | TogoVar | ||||||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(28): Show | 268 | 456 | 0.5877 | 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 | ||
DEFB126_chr20_137590_150751 | 145514 | GCAAA | G | frameshift_variant | HIGH | HG00323.hp1 HG00642.hp2 HG00673.hp1 others(59): Show |
a0002 | a0002c0003a0002c0006a0002c0009 | a0002c0003t0001a0002c0006t0001a0002c0009t0001 | a0002c0003t0001g0004a0002c0003t0001g0009a0002c0003t0001g0012others(5): Show | 62 | 460 | 0.1348 | -4 | c.163 others(11): Show |
p.Gln others(4): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 202/434 | 163/336 | 55/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |