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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CD1D_chr1_158175895_158191427 | 158182157 | ACCCAAGA others(3): Show |
A | frameshift_variant | HIGH | NA19043.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0001 | 1 | 434 | 0.0023 | -10 | c.459 others(17): Show |
p.Gln others(5): Show |
CD1D | ENSG00000158473.8 | transcript | ENST00000674085.2 | protein_coding | 3/6 | 666/3492 | 459/1008 | 153/335 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
CD200R1L_chr3_112810711_112851864 | 112837703 | GAAGGTGC others(534): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG01106.hp1 HG02723.hp2 HG02976.hp2 others(4): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0004a0004c0005t0004 | a0002c0003t0004g0136a0004c0005t0004g0014a0004c0005t0004g0135 | 7 | 408 | 0.0172 | -541 | c.-86 others(15): Show |
CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
CD8B2_chr2_106482364_106516095 | 106502564 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02818.hp1 HG03225.hp1 HG03471.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0030a0002c0003t0008g0108a0002c0003t0008g0109 | 5 | 350 | 0.0143 | 0 | c.583 others(5): Show |
CD8B2 | ENSG00000254126.8 | transcript | ENST00000643224.2 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
CDCP1_chr3_45077277_45151378 | 45118458 | GCAGCTAA others(34): Show |
G | frameshift_variant | HIGH | NA19043.hp2 | a0008 | a0008c0018 | a0008c0018t0018 | a0008c0018t0018g0149 | 1 | 384 | 0.0026 | -41 | c.205 others(48): Show |
p.Ser others(4): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 2/9 | 336/5963 | 205/2511 | 69/836 | chr3 | 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(6): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0063others(39): Show | 163 | 393 | 0.4148 | 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 |
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 | 133071435 | G | GCCCCCCC others(27): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp1 | a0004 | a0004c0149 | a0004c0149t0001 | a0004c0149t0001g0012 | 1 | 416 | 0.0024 | 34 | c.195 others(43): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1982/2381 | 1960/2262 | 654/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071467 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(35): Show |
a0001a0004a0005others(3): Show | a0001c0073a0001c0190a0001c0192others(26): Show | a0001c0073t0001a0001c0190t0001a0001c0192t0001others(26): Show | a0001c0073t0001g0001a0001c0190t0001g0005a0001c0192t0001g0002others(31): Show | 38 | 416 | 0.0914 | 1 | c.196 others(10): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1988/2381 | 1966/2262 | 656/753 | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0004others(19): Show | a0001c0054a0001c0055a0001c0056others(60): Show | a0001c0054t0001a0001c0055t0001a0001c0056t0001others(60): Show | a0001c0054t0001g0056a0001c0055t0001g0001a0001c0056t0001g0008others(73): Show | 85 | 416 | 0.2043 | 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 | |
CFHR5_chr1_196972556_197014678 | 197008677 | T | A | stop_gained | HIGH | HG02965.hp1 NA19043.hp2 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0132a0004c0008t0001g0133 | 2 | 356 | 0.0056 | 0 | c.170 others(4): Show |
p.Cys others(4): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 10/10 | 1813/2814 | 1704/1710 | 568/569 | chr1 | TogoVar | ||
CHIA_chr1_111285851_111325563 | 111319160 | A | ATACCCCT others(7): Show |
frameshift_variant | HIGH | NA19043.hp2 | a0013 | a0013c0021 | a0013c0021t0005 | a0013c0021t0005g0140 | 1 | 426 | 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 | |
CHST12_chr7_2398611_2453484 | 2403653 | GCGCGAGG others(7): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG01106.hp1 HG02015.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0290a0001c0001t0291a0001c0001t0292others(5): Show | a0001c0001t0290g0132a0001c0001t0291g0220a0001c0001t0292g0217others(5): Show | 8 | 344 | 0.0233 | -14 | c.-84 others(23): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/2 | 28960 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CLEC4A_chr12_8118617_8143607 | 8138285 | T | C | stop_lost | HIGH | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(4): Show |
a0000 | a0000c0003a0000c0011 | a0000c0003t0004a0000c0003t0008a0000c0011t0009 | a0000c0003t0004g0017a0000c0003t0004g0032a0000c0003t0004g0101others(2): Show | 7 | 458 | 0.0153 | 0 | c.712 others(3): Show |
p.Ter others(11): Show |
CLEC4A | ENSG00000111729.15 | transcript | ENST00000229332.12 | protein_coding | 6/6 | 974/1296 | 712/714 | 238/237 | chr12 | 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 | |||||
CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0065others(135): Show | 138 | 218 | 0.6330 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL11A1_chr1_102871473_103113522 | 103022374 | CCCAGGCA others(4463): Show |
C | exon_loss_variant | HIGH | NA19043.hp2 | a0009 | a0009c0029 | a0009c0029t0004 | a0009c0029t0004g0043 | 1 | 184 | 0.0054 | -4470 | c.781 others(16): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 8/67 | chr1 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120280903 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02027.hp1 HG02293.hp2 HG02451.hp1 others(10): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0002a0001c0001t0020a0002c0002t0001others(4): Show | a0001c0001t0002g0029a0001c0001t0002g0069a0001c0001t0002g0070others(10): Show | 13 | 218 | 0.0596 | 1 | c.368 others(7): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 30/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL9A2_chr1_40295489_40322286 | 40307478 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(38): Show |
a0003a0008a0009others(1): Show | a0003c0005a0003c0008a0003c0028others(3): Show | a0003c0005t0001a0003c0008t0001a0003c0028t0001others(3): Show | a0003c0005t0001g0004a0003c0005t0001g0045a0003c0005t0001g0046others(19): Show | 41 | 438 | 0.0936 | 0 | c.976 others(3): Show |
p.Gln others(4): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 19/32 | 1065/2852 | 976/2070 | 326/689 | chr1 | TogoVar | ||
COX8C_chr14_93342182_93353356 | 93347347 | C | CACGCAGG others(4): Show |
frameshift_variant | HIGH | NA19043.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0013 | 1 | 427 | 0.0023 | 11 | c.79_ others(16): Show |
p.Arg others(4): Show |
COX8C | ENSG00000187581.3 | transcript | ENST00000342144.3 | protein_coding | 1/2 | 167/542 | 80/219 | 27/72 | chr14 | TogoVar | ||
COX8C_chr14_93342182_93353356 | 93347360 | C | A | stop_gained | HIGH | NA19043.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0013 | 1 | 427 | 0.0023 | 0 | c.92C others(2): Show |
p.Ser others(3): Show |
COX8C | ENSG00000187581.3 | transcript | ENST00000342144.3 | protein_coding | 1/2 | 179/542 | 92/219 | 31/72 | chr14 | 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 | |||||
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 | ||||||
CYP2F1_chr19_41109432_41133381 | 41116202 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0002a0013 | a0002c0002a0002c0003a0002c0005others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(17): Show | a0002c0002t0001g0063a0002c0002t0002g0002a0002c0002t0002g0003others(101): Show | 114 | 374 | 0.3048 | 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 | 99836454 | TA | T | frameshift_variant others(1): Show |
HIGH | HG01109.hp2 HG01516.hp1 HG01517.hp1 others(34): Show |
a0002 | a0002c0002a0002c0010a0002c0011others(3): Show | a0002c0002t0001a0002c0010t0001a0002c0011t0001others(3): Show | a0002c0002t0001g0037a0002c0002t0001g0039a0002c0002t0001g0040others(28): Show | 37 | 326 | 0.1135 | -1 | c.74d others(3): Show |
p.Tyr others(4): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 2/13 | 177/1707 | 74/1512 | 25/503 | chr7 | TogoVar | ||
DAZ2_chrY_23214533_23296356 | 23239362 | CTGGTCAT others(11928): Show |
C | exon_loss_variant | HIGH | HG00140.hp1 HG00642.hp1 HG00673.hp1 others(21): Show |
a0001a0005a0008others(2): Show | a0001c0001a0001c0007a0005c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(21): Show | 24 | 54 | 0.4444 | -11935 | c.930 others(18): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DEFA1B_chr8_6991766_7004198 | 6992887 | GTGTGTAA others(11304): Show |
G | transcript_ablation | HIGH | HG01071.hp2 HG02257.hp1 HG03516.hp1 others(1): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 4 | 398 | 0.0101 | -11311 | c.-50 others(11): Show |
p.0? | DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 2/3 | chr8 | 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 | |
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show |
a0000a0002 | a0000c0002a0000c0004a0002c0003others(2): Show | a0000c0002t0001a0000c0004t0001a0002c0003t0001others(2): Show | a0000c0002t0001g0001a0000c0002t0001g0002a0000c0002t0001g0003others(16): Show | 233 | 460 | 0.5065 | -2 | c.317 others(9): Show |
p.Pro others(5): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 356/434 | 317/336 | 106/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(3): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00642.hp1 HG01993.hp1 HG02074.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0015a0001c0002t0012a0001c0003t0006others(8): Show | a0001c0001t0015g0163a0001c0002t0012g0049a0001c0003t0006g0262others(10): Show | 13 | 316 | 0.0411 | 10 | c.623 others(22): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DHDH_chr19_48928699_48949969 | 48939592 | T | TG | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show |
a0002a0006a0019others(3): Show | a0002c0002a0002c0005a0002c0027others(7): Show | a0002c0002t0001a0002c0005t0001a0002c0027t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0007a0002c0002t0001g0019others(59): Show | 132 | 436 | 0.3028 | 1 | c.517 others(4): Show |
p.Ala others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 4/7 | 541/1064 | 518/1005 | 173/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
DNAH8_chr6_38710311_39035792 | 38770561 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01255.hp2 HG01891.hp1 HG02559.hp1 others(6): Show |
a0008a0012a0015others(4): Show | a0008c0127a0012c0126a0015c0125others(5): Show | a0008c0127t0001a0012c0126t0001a0015c0125t0001others(5): Show | a0008c0127t0001g0152a0012c0126t0001g0208a0015c0125t0001g0229others(6): Show | 9 | 284 | 0.0317 | 0 | c.176 others(6): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | chr6 | TogoVar | ||||||
DPPA4_chr3_109321144_109342546 | 109337516 | A | G | start_lost | HIGH | HG01081.hp1 HG01175.hp2 HG01884.hp2 others(22): Show |
a0003a0005 | a0003c0004a0003c0006a0003c0010others(1): Show | a0003c0004t0002a0003c0004t0004a0003c0006t0002others(2): Show | a0003c0004t0002g0018a0003c0004t0002g0026a0003c0004t0002g0048others(17): Show | 25 | 416 | 0.0601 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
DPPA4 | ENSG00000121570.13 | transcript | ENST00000335658.7 | protein_coding | 1/7 | 31/2788 | 2/915 | 1/304 | chr3 | TogoVar | ||
DSP_chr6_7536671_7591714 | 7541915 | C | CA | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0011a0001c0014others(22): Show | a0001c0007t0001a0001c0011t0001a0001c0014t0001others(24): Show | a0001c0007t0001g0046a0001c0007t0001g0049a0001c0007t0001g0162others(104): Show | 112 | 396 | 0.2828 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/24 | 247/9697 | 2/8616 | 1/2871 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(16): Show | 164 | 404 | 0.4059 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | TogoVar | ||
DZANK1_chr20_18378367_18472030 | 18412855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0285a0001c0001t0001g0293a0001c0001t0001g0333others(196): Show | 213 | 374 | 0.5695 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | TogoVar | ||||||
EBLN1_chr10_22203475_22223015 | 22209191 | C | A | stop_gained | HIGH | NA19043.hp1 | a0014 | a0014c0016 | a0014c0016t0012 | a0014c0016t0012g0068 | 1 | 432 | 0.0023 | 0 | c.793 others(3): Show |
p.Glu others(4): Show |
EBLN1 | ENSG00000223601.3 | transcript | ENST00000422359.3 | protein_coding | 3/3 | 1061/1777 | 793/1101 | 265/366 | chr10 | TogoVar | ||
ECD_chr10_73128668_73173008 | 73163951 | CTA | C | splice_acceptor_variant others(2): Show |
HIGH | HG01074.hp1 HG01346.hp2 HG01884.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0014a0002c0002t0003g0041a0002c0002t0003g0042others(5): Show | 9 | 272 | 0.0331 | -2 | c.-13 others(13): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
ENDOV_chr17_80410167_80443086 | 80415648 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 420 | 0.0024 | 0 | c.57- others(4): Show |
ENDOV | ENSG00000173818.17 | transcript | ENST00000518137.6 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
EOGT_chr3_68970225_69018684 | 69004436 | T | A | stop_gained | HIGH | HG00735.hp2 HG02615.hp1 HG02723.hp2 others(2): Show |
a0003 | a0003c0008 | a0003c0008t0001a0003c0008t0005a0003c0008t0029others(2): Show | a0003c0008t0001g0032a0003c0008t0005g0033a0003c0008t0029g0035others(2): Show | 5 | 444 | 0.0113 | 0 | c.562 others(3): Show |
p.Lys others(4): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 8/18 | 1028/4443 | 562/1584 | 188/527 | chr3 | TogoVar | ||
EPB41L4A_chr5_112157619_112424277 | 112165119 | C | CTAAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(219): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0021others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0086a0001c0001t0001g0100a0001c0001t0001g0103others(217): Show | 222 | 228 | 0.9737 | 5 | c.193 others(18): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 22/22 | chr5 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143861843 | C | CCCTGGGC others(9552): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp2 | a0025 | a0025c0162 | a0025c0162t0001 | a0025c0162t0001g0033 | 1 | 424 | 0.0024 | 9559 | c.114 others(9570): Show |
p.Gly others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11485/16005 | 11410/15267 | 3804/5088 | chr8 | TogoVar | ||
ESYT3_chr3_138429616_138484925 | 138451869 | G | GCCAGGGC others(173): Show |
stop_gained others(1): Show |
HIGH | HG01884.hp1 HG02451.hp1 HG02486.hp2 others(9): Show |
a0001a0002a0003 | a0001c0004a0001c0005a0002c0002others(1): Show | a0001c0004t0003a0001c0005t0001a0002c0002t0001others(1): Show | a0001c0004t0003g0102a0001c0005t0001g0125a0002c0002t0001g0041others(5): Show | 12 | 338 | 0.0355 | 180 | c.328 others(191): Show |
p.Ile others(193): Show |
ESYT3 | ENSG00000158220.14 | transcript | ENST00000389567.9 | protein_coding | 2/23 | 516/5915 | 333/2661 | 111/886 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
FAM166A_chr9_137238599_137252751 | 137245305 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(68): Show | 418 | 418 | 1.0000 | 0 | c.522 others(5): Show |
FAM166A | ENSG00000188163.8 | transcript | ENST00000344774.6 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
FAM187B_chr19_35219800_35233739 | 35228117 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(4): Show | a0002c0002t0001g0002a0002c0002t0002g0018a0002c0005t0001g0006others(7): Show | 126 | 450 | 0.2800 | 0 | c.564 others(3): Show |
p.Trp others(4): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/2 | 623/1194 | 564/1110 | 188/369 | chr19 | TogoVar | ||
FAM228B_chr2_24118469_24174638 | 24164308 | GC | G | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp2 HG00642.hp1 others(17): Show |
a0003 | a0003c0004a0003c0013 | a0003c0004t0001a0003c0013t0002 | a0003c0004t0001g0093a0003c0004t0001g0095a0003c0004t0001g0096others(17): Show | 20 | 290 | 0.0690 | -1 | c.907 others(4): Show |
p.Gln others(5): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 9/11 | 1004/1369 | 907/975 | 303/324 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FAM90A17_chr8_7741034_7754044 | 7747419 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(73): Show |
a0001a0002a0005others(21): Show | a0001c0001a0001c0015a0002c0005others(26): Show | a0001c0001t0000a0001c0015t0000a0002c0005t0000others(26): Show | a0001c0001t0000g0001a0001c0001t0000g0002a0001c0001t0000g0003others(50): Show | 76 | 108 | 0.7037 | 0 | c.432 others(5): Show |
FAM90A17 | ENSG00000285720.1 | transcript | ENST00000650426.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FAM90A18_chr8_7718091_7731101 | 7724476 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(26): Show |
a0001a0003a0004others(18): Show | a0001c0002a0001c0017a0003c0001others(19): Show | a0001c0002t0000a0001c0017t0000a0003c0001t0000others(19): Show | a0001c0002t0000g0004a0001c0002t0000g0005a0001c0017t0000g0030others(24): Show | 29 | 44 | 0.6591 | 0 | c.432 others(5): Show |
FAM90A18 | ENSG00000285913.1 | transcript | ENST00000647769.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FAM90A7_chr8_7551700_7564712 | 7558326 | A | G | splice_donor_variant others(1): Show |
HIGH | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0017a0003c0002others(11): Show | a0001c0001t0000a0002c0017t0000a0003c0002t0000others(11): Show | a0001c0001t0000g0005a0001c0001t0000g0011a0002c0017t0000g0018others(12): Show | 15 | 18 | 0.8333 | 0 | c.432 others(5): Show |
FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FAM90A7_chr8_7551700_7564712 | 7559000 | AAGGTCGC others(5705): Show |
A | exon_loss_variant | HIGH | NA19043.hp2 | a0002 | a0002c0017 | a0002c0017t0000 | a0002c0017t0000g0018 | 1 | 18 | 0.0556 | -5712 | c.-50 others(9): Show |
FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/4 | 217/1395 | chr8 | TogoVar | |||||
FAM90A8_chr8_7733387_7746396 | 7739771 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(69): Show |
a0001a0003a0004others(28): Show | a0001c0001a0003c0003a0003c0006others(29): Show | a0001c0001t0000a0003c0003t0000a0003c0006t0000others(29): Show | a0001c0001t0000g0002a0001c0001t0000g0003a0001c0001t0000g0016others(53): Show | 72 | 108 | 0.6667 | 0 | c.432 others(5): Show |
FAM90A8 | ENSG00000285937.1 | transcript | ENST00000647775.1 | protein_coding | 3/3 | chr8 | TogoVar |