| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABLIM2_chr4_7960327_8163813 | 8029777 | C | A | splice_acceptor_variant others(1): Show |
HIGH | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0254 | 1 | 322 | 0.0031 | 0 | c.104 others(6): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 10/20 | chr4 | TogoVar | ||||||
| ACTN2_chr1_236681499_236769631 | 236717903 | C | T | stop_gained | HIGH | NA19063.hp2 | a0005 | a0005c0033 | a0005c0033t0003 | a0005c0033t0003g0169 | 1 | 344 | 0.0029 | 0 | c.172 others(3): Show |
p.Gln others(3): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 347/4872 | 172/2685 | 58/894 | chr1 | TogoVar | ||
| ACTN2_chr1_236681499_236769631 | 236717958 | T | A | stop_gained | HIGH | NA19063.hp2 | a0005 | a0005c0033 | a0005c0033t0003 | a0005c0033t0003g0169 | 1 | 344 | 0.0029 | 0 | c.227 others(3): Show |
p.Leu others(3): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 402/4872 | 227/2685 | 76/894 | chr1 | TogoVar | ||
| ADAM11_chr17_44753988_44786846 | 44777694 | G | A | splice_acceptor_variant others(1): Show |
HIGH | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 336 | 0.0030 | 0 | c.190 others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 22/26 | chr17 | 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 | |
| AKR1C8_chr10_5148920_5190150 | 5159943 | GTGATTGA others(229): Show |
G | frameshift_variant others(3): Show |
HIGH | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(40): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0002a0003c0006t0002 | a0003c0004t0002g0005a0003c0004t0002g0008a0003c0004t0002g0009others(27): Show | 43 | 408 | 0.1054 | -236 | c.457 others(11): Show |
p.Ala others(5): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 5/9 | 564/1247 | 457/981 | 153/326 | chr10 | TogoVar | ||
| ALDH18A1_chr10_95600941_95661711 | 95621177 | G | A | stop_gained | HIGH | NA19063.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0115 | 1 | 372 | 0.0027 | 0 | c.132 others(4): Show |
p.Arg others(4): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 12/18 | 1464/3352 | 1321/2388 | 441/795 | chr10 | 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 | ||||||
| ALG1_chr16_5066843_5092379 | 5078734 | AGGCTTTT others(28): Show |
A | frameshift_variant others(3): Show |
HIGH | NA19063.hp1 | a0009 | a0009c0016 | a0009c0016t0003 | a0009c0016t0003g0096 | 1 | 444 | 0.0023 | -35 | c.741 others(45): Show |
p.Ser others(5): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 7/13 | 741/1395 | 247/464 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
| ANKDD1B_chr5_75606453_75676846 | 75666988 | G | A | stop_gained | HIGH | HG02027.hp2 HG02056.hp1 HG02132.hp1 others(3): Show |
a0009 | a0009c0010 | a0009c0010t0009 | a0009c0010t0009g0008a0009c0010t0009g0040a0009c0010t0009g0041others(2): Show | 6 | 372 | 0.0161 | 0 | c.138 others(4): Show |
p.Trp others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 12/14 | 1570/2575 | 1388/1587 | 463/528 | chr5 | TogoVar | ||
| ANKRD30A_chr10_37120598_37237567 | 37171003 | GTTAGCCA others(11786): Show |
G | exon_loss_variant | HIGH | NA19063.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0280 | 1 | 286 | 0.0035 | -11793 | c.225 others(19): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ANKRD36C_chr2_95844548_95996824 | 95918788 | GTTAGATA others(1872): Show |
G | exon_loss_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show |
a0002a0004a0008others(9): Show | a0002c0004a0002c0007a0002c0013others(14): Show | a0002c0004t0001a0002c0007t0001a0002c0013t0001others(14): Show | a0002c0004t0001g0003a0002c0004t0001g0019a0002c0004t0001g0021others(96): Show | 101 | 298 | 0.3389 | -1879 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | ||||||
| APBB1IP_chr10_26433341_26572803 | 26438650 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA19009.hp1 NA19058.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245a0001c0001t0001g0246a0001c0001t0001g0247 | 3 | 358 | 0.0084 | 0 | c.-20 others(6): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 1/14 | chr10 | 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 | ||
| APOL4_chr22_36184128_36206809 | 36201698 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0028a0002c0002t0002others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0031others(30): Show | 58 | 434 | 0.1336 | 0 | c.35+ others(4): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
| ARHGAP4_chrX_153902378_153931264 | 153907869 | TG | T | frameshift_variant | HIGH | NA19063.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0089 | 1 | 308 | 0.0033 | -1 | c.270 others(5): Show |
p.Ser others(5): Show |
ARHGAP4 | ENSG00000089820.17 | transcript | ENST00000350060.10 | protein_coding | 22/22 | 2762/3254 | 2700/2841 | 900/946 | chrX | TogoVar | ||
| ARHGAP4_chrX_153902378_153931264 | 153910288 | A | AC | frameshift_variant | HIGH | NA19063.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0089 | 1 | 308 | 0.0033 | 1 | c.203 others(5): Show |
p.Val others(5): Show |
ARHGAP4 | ENSG00000089820.17 | transcript | ENST00000350060.10 | protein_coding | 17/22 | 2100/3254 | 2038/2841 | 680/946 | chrX | 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 | |
| ARMCX1_chrX_101545547_101559700 | 101553246 | GC | G | frameshift_variant | HIGH | NA19063.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0001 | 1 | 302 | 0.0033 | -1 | c.318 others(4): Show |
p.Lys others(5): Show |
ARMCX1 | ENSG00000126947.13 | transcript | ENST00000372829.8 | protein_coding | 4/4 | 673/2125 | 318/1362 | 106/453 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX1_chrX_101545547_101559700 | 101553336 | A | AG | frameshift_variant | HIGH | NA19063.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0001 | 1 | 302 | 0.0033 | 1 | c.408 others(4): Show |
p.Thr others(5): Show |
ARMCX1 | ENSG00000126947.13 | transcript | ENST00000372829.8 | protein_coding | 4/4 | 764/2125 | 409/1362 | 137/453 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX1_chrX_101545547_101559700 | 101553923 | C | CT | frameshift_variant | HIGH | NA19063.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0001 | 1 | 302 | 0.0033 | 1 | c.999 others(4): Show |
p.Ala others(5): Show |
ARMCX1 | ENSG00000126947.13 | transcript | ENST00000372829.8 | protein_coding | 4/4 | 1355/2125 | 1000/1362 | 334/453 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMS2_chr10_122449653_122462352 | 122454839 | C | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(58): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(2): Show | a0003c0003t0001g0003a0003c0003t0001g0016a0003c0003t0001g0018others(4): Show | 61 | 424 | 0.1439 | 0 | c.112 others(3): Show |
p.Arg others(3): Show |
ARMS2 | ENSG00000254636.1 | transcript | ENST00000528446.1 | protein_coding | 1/2 | 187/818 | 112/324 | 38/107 | chr10 | TogoVar | ||
| ATP1A4_chr1_160146603_160191980 | 160174748 | G | T | splice_donor_variant others(1): Show |
HIGH | NA18950.hp1 NA19063.hp2 NA19091.hp2 |
a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0129a0002c0009t0002g0197a0002c0009t0002g0198 | 3 | 418 | 0.0072 | 0 | c.231 others(6): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 15/21 | 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 | ||
| C12orf60_chr12_14798670_14829415 | 14823483 | CTA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(65): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003a0002c0002t0001g0008a0002c0002t0001g0012others(9): Show | 68 | 388 | 0.1753 | -2 | c.550 others(9): Show |
p.Met others(5): Show |
C12orf60 | ENSG00000182993.5 | transcript | ENST00000330828.3 | protein_coding | 2/2 | 656/1586 | 550/738 | 184/245 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| C2CD4C_chr19_400445_414147 | 407718 | T | TC | frameshift_variant | HIGH | HG00642.hp2 HG00735.hp1 HG01099.hp1 others(10): Show |
a0000a0002 | a0000c0003a0002c0017 | a0000c0003t0001a0000c0003t0005a0000c0003t0008others(6): Show | a0000c0003t0001g0023a0000c0003t0005g0043a0000c0003t0008g0115others(7): Show | 13 | 322 | 0.0404 | 1 | c.643 others(4): Show |
p.Glu others(5): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2/2 | 825/3099 | 643/1266 | 215/421 | chr19 | TogoVar | ||
| C2CD4C_chr19_400445_414147 | 408312 | T | TC | frameshift_variant | HIGH | HG00639.hp1 HG01175.hp1 HG01884.hp2 others(5): Show |
a0002 | a0002c0005a0002c0017a0002c0018 | a0002c0005t0001a0002c0005t0006a0002c0005t0023others(5): Show | a0002c0005t0001g0147a0002c0005t0006g0169a0002c0005t0023g0145others(5): Show | 8 | 322 | 0.0248 | 1 | c.49d others(3): Show |
p.Glu others(4): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2/2 | 231/3099 | 49/1266 | 17/421 | 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 | ||||||
| CC2D2B_chr10_95902975_96038745 | 96031997 | C | T | stop_gained | HIGH | HG00438.hp1 NA19063.hp1 |
a0020a0025 | a0020c0031a0025c0034 | a0020c0031t0001a0025c0034t0001 | a0020c0031t0001g0123a0025c0034t0001g0255 | 2 | 312 | 0.0064 | 0 | c.430 others(4): Show |
p.Gln others(5): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 35/35 | 4409/6157 | 4303/4314 | 1435/1437 | chr10 | 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 | ||||||
| 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 | |||||
| CD40_chr20_46113314_46134858 | 46128304 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0019others(44): Show | 118 | 416 | 0.2837 | 2 | c.647 others(13): 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 | ||
| CEL_chr9_133056981_133076861 | 133071369 | G | GC | frameshift_variant | HIGH | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(21): Show |
a0001a0005a0007others(1): Show | a0001c0054a0001c0055a0001c0058others(20): Show | a0001c0054t0001a0001c0055t0001a0001c0058t0001others(20): Show | a0001c0054t0001g0056a0001c0055t0001g0001a0001c0058t0001g0001others(21): Show | 24 | 416 | 0.0577 | 1 | c.187 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1898/2381 | 1876/2262 | 626/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CEL_chr9_133056981_133076861 | 133071500 | CGCCCCCC others(25): Show |
C | frameshift_variant | HIGH | NA19063.hp2 NA19065.hp1 |
a0007a0013 | a0007c0117a0013c0152 | a0007c0117t0001a0013c0152t0001 | a0007c0117t0001g0001a0013c0152t0001g0001 | 2 | 416 | 0.0048 | -32 | c.200 others(41): 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 | |
| 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 | ||
| CLDN9_chr16_3007923_3019505 | 3013938 | G | GC | frameshift_variant | HIGH | HG00642.hp1 HG01928.hp2 HG02145.hp2 others(9): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(1): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0003g0000others(1): Show | 12 | 428 | 0.0280 | 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 | |
| CLEC17A_chr19_14578084_14617035 | 14585489 | TGACTCAG others(4256): Show |
T | exon_loss_variant others(4): Show |
HIGH | NA19063.hp1 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0123 | 1 | 364 | 0.0028 | -4263 | c.122 others(17): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CMA1_chr14_24500353_24513265 | 24507355 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00423.hp2 HG00558.hp2 HG02040.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 6 | 432 | 0.0139 | 0 | c.209 others(5): Show |
CMA1 | ENSG00000092009.10 | transcript | ENST00000250378.7 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
| CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 355 | 424 | 0.8373 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| COL6A5_chr3_130340672_130489846 | 130471876 | AT | A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(101): Show |
a0001a0004a0006others(18): Show | a0001c0001a0001c0014a0001c0040others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(98): Show | 104 | 292 | 0.3562 | -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 | |
| COLGALT1_chr19_17550649_17588157 | 17577397 | C | CG | frameshift_variant | HIGH | HG01099.hp2 HG01109.hp1 NA18956.hp2 others(5): Show |
a0002 | a0002c0006a0002c0010a0002c0014 | a0002c0006t0001a0002c0006t0009a0002c0006t0014others(5): Show | a0002c0006t0001g0209a0002c0006t0009g0157a0002c0006t0014g0198others(5): Show | 8 | 396 | 0.0202 | 1 | c.106 others(5): Show |
p.Glu others(5): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 8/12 | 1132/3647 | 1067/1869 | 356/622 | INFO_REALIGN_3_PRIME | chr19 | 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 | |
| CSF2RA_chrX_1263814_1314935 | 1282705 | T | TG | frameshift_variant | HIGH | NA19063.hp1 | a0006 | a0006c0022 | a0006c0022t0004 | a0006c0022t0004g0073 | 1 | 159 | 0.0063 | 1 | c.3du others(2): Show |
p.Leu others(3): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/13 | 160/1815 | 4/1203 | 2/400 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CSF2RA_chrX_1263814_1314935 | 1282747 | AC | A | frameshift_variant | HIGH | NA19062.hp1 NA19063.hp1 |
a0006a0012 | a0006c0022a0012c0011 | a0006c0022t0004a0012c0011t0010 | a0006c0022t0004g0073a0012c0011t0010g0054 | 2 | 159 | 0.0126 | -1 | c.47d others(3): Show |
p.Pro others(4): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/13 | 203/1815 | 47/1203 | 16/400 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CSNKA2IP_chr3_88333456_88472594 | 88467516 | G | A | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(240): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0004a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0049others(237): Show | 243 | 386 | 0.6295 | 0 | c.215 others(4): Show |
p.Trp others(4): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2617/2695 | 2159/2205 | 720/734 | chr3 | TogoVar | ||
| CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(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 | ||||||
| CYP4B1_chr1_46794046_46824413 | 46815074 | GAT | G | frameshift_variant others(1): Show |
HIGH | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(66): Show |
a0003 | a0003c0003a0003c0018a0003c0019 | a0003c0003t0001a0003c0003t0003a0003c0018t0003others(1): Show | a0003c0003t0001g0009a0003c0003t0001g0035a0003c0003t0001g0103others(37): Show | 69 | 400 | 0.1725 | -2 | c.884 others(9): Show |
p.Asp others(5): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 8/12 | 920/2174 | 884/1539 | 295/512 | chr1 | TogoVar |