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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDC14C_chr7_48919547_48932454 | 48924866 | C | CA | frameshift_variant | HIGH | HG01993.hp1 NA18966.hp2 NA18969.hp2 others(4): Show |
a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0000 | 7 | 462 | 0.0152 | 1 | c.196 others(4): Show |
p.Met others(4): Show |
CDC14C | ENSG00000218305.5 | transcript | ENST00000650262.2 | protein_coding | 1/1 | 323/2908 | 197/1344 | 66/447 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
CDC40_chr6_110175427_110237232 | 110217724 | TATCTGCT others(48): Show |
T | frameshift_variant | HIGH | NA19076.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0030 | 1 | 330 | 0.0030 | -55 | c.101 others(64): Show |
p.Ile others(5): Show |
CDC40 | ENSG00000168438.15 | transcript | ENST00000307731.2 | protein_coding | 10/15 | 1030/3859 | 1012/1740 | 338/579 | chr6 | TogoVar | ||
CDC42BPG_chr11_64818052_64849653 | 64839217 | GCCACTGA others(26): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18968.hp1 | a0014 | a0014c0028 | a0014c0028t0001 | a0014c0028t0001g0053 | 1 | 404 | 0.0025 | -33 | c.676 others(43): Show |
p.Val others(5): Show |
CDC42BPG | ENSG00000171219.9 | transcript | ENST00000342711.6 | protein_coding | 7/37 | 775/6161 | 676/4656 | 226/1551 | chr11 | 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 | ||
CDH15_chr16_89166748_89200492 | 89187454 | TGCAGGTG others(3): Show |
T | frameshift_variant | HIGH | NA18967.hp2 | a0018 | a0018c0036 | a0018c0036t0001 | a0018c0036t0001g0172 | 1 | 406 | 0.0025 | -10 | c.691 others(17): Show |
p.Gln others(5): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 6/14 | 775/2866 | 691/2445 | 231/814 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
CDHR4_chr3_49785732_49804873 | 49799014 | G | GGTGCAGA others(6): Show |
frameshift_variant | HIGH | NA19010.hp1 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0080 | 1 | 354 | 0.0028 | 13 | c.382 others(20): Show |
p.Ala others(5): Show |
CDHR4 | ENSG00000187492.9 | transcript | ENST00000412678.7 | protein_coding | 3/19 | 443/2528 | 382/2367 | 128/788 | chr3 | TogoVar | ||
CDK16_chrX_47213681_47234997 | 47226375 | AG | A | frameshift_variant | HIGH | HG02896.hp2 | a0003 | a0003c0004 | a0003c0004t0015 | a0003c0004t0015g0042 | 1 | 312 | 0.0032 | -1 | c.893 others(4): Show |
p.Gly others(5): Show |
CDK16 | ENSG00000102225.17 | transcript | ENST00000357227.9 | protein_coding | 9/16 | 1324/3151 | 893/1491 | 298/496 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CDK16_chrX_47213681_47234997 | 47226650 | G | GC | frameshift_variant | HIGH | NA19006.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0049 | 1 | 312 | 0.0032 | 1 | c.989 others(4): Show |
p.Asp others(5): Show |
CDK16 | ENSG00000102225.17 | transcript | ENST00000357227.9 | protein_coding | 10/16 | 1421/3151 | 990/1491 | 330/496 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CDK16_chrX_47213681_47234997 | 47226996 | AC | A | frameshift_variant | HIGH | NA19089.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0070 | 1 | 312 | 0.0032 | -1 | c.114 others(5): Show |
p.Pro others(5): Show |
CDK16 | ENSG00000102225.17 | transcript | ENST00000357227.9 | protein_coding | 12/16 | 1573/3151 | 1142/1491 | 381/496 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CDK16_chrX_47213681_47234997 | 47227389 | GA | G | frameshift_variant | HIGH | NA19089.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0070 | 1 | 312 | 0.0032 | -1 | c.129 others(5): Show |
p.Asn others(5): Show |
CDK16 | ENSG00000102225.17 | transcript | ENST00000357227.9 | protein_coding | 14/16 | 1729/3151 | 1298/1491 | 433/496 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CDK16_chrX_47213681_47234997 | 47227417 | GA | G | frameshift_variant | HIGH | NA19089.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0070 | 1 | 312 | 0.0032 | -1 | c.132 others(5): Show |
p.Lys others(5): Show |
CDK16 | ENSG00000102225.17 | transcript | ENST00000357227.9 | protein_coding | 14/16 | 1757/3151 | 1326/1491 | 442/496 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CDK16_chrX_47213681_47234997 | 47227462 | TC | T | frameshift_variant | HIGH | NA19089.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0070 | 1 | 312 | 0.0032 | -1 | c.137 others(5): Show |
p.Pro others(5): Show |
CDK16 | ENSG00000102225.17 | transcript | ENST00000357227.9 | protein_coding | 14/16 | 1801/3151 | 1370/1491 | 457/496 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CDKL1_chr14_50321265_50401881 | 50341200 | CCACGTAG others(13): Show |
C | frameshift_variant | HIGH | HG03688.hp1 | a0007 | a0007c0007 | a0007c0007t0145 | a0007c0007t0145g0304 | 1 | 306 | 0.0033 | -20 | c.467 others(27): Show |
p.Asp others(5): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/10 | 1005/5402 | 467/1074 | 156/357 | chr14 | TogoVar | ||
CDKL5_chrX_18420608_18645196 | 18581945 | A | AC | frameshift_variant | HIGH | NA18974.hp1 | a0004 | a0004c0003 | a0004c0003t0036 | a0004c0003t0036g0008 | 1 | 192 | 0.0052 | 1 | c.459 others(4): Show |
p.Phe others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 7/18 | 710/14572 | 460/2883 | 154/960 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CDKL5_chrX_18420608_18645196 | 18628429 | CG | C | frameshift_variant | HIGH | NA18953.hp1 | a0003 | a0003c0004 | a0003c0004t0026 | a0003c0004t0026g0079 | 1 | 192 | 0.0052 | -1 | c.255 others(5): Show |
p.Ala others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2807/14572 | 2557/2883 | 853/960 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CDO1_chr5_115799733_115821659 | 115816292 | T | TGGCCTGC others(25): Show |
frameshift_variant others(1): Show |
HIGH | HG03130.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0096 | 1 | 372 | 0.0027 | 32 | c.74_ others(38): Show |
p.Ile others(4): Show |
CDO1 | ENSG00000129596.5 | transcript | ENST00000250535.5 | protein_coding | 1/5 | 367/1565 | 105/603 | 35/200 | chr5 | TogoVar | ||
CDY1_chrY_25617117_25629902 | 25622628 | GA | G | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0001 | 1 | 92 | 0.0109 | -1 | c.192 others(4): Show |
p.Lys others(4): Show |
CDY1 | ENSG00000172288.8 | transcript | ENST00000306609.5 | protein_coding | 1/2 | 518/2366 | 192/1665 | 64/554 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
CDY1_chrY_25617117_25629902 | 25622917 | CT | C | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0001 | 1 | 92 | 0.0109 | -1 | c.477 others(4): Show |
p.Glu others(5): Show |
CDY1 | ENSG00000172288.8 | transcript | ENST00000306609.5 | protein_coding | 1/2 | 803/2366 | 477/1665 | 159/554 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
CDY1_chrY_25617117_25629902 | 25623461 | T | TC | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0001 | 1 | 92 | 0.0109 | 1 | c.102 others(5): Show |
p.Phe others(5): Show |
CDY1 | ENSG00000172288.8 | transcript | ENST00000306609.5 | protein_coding | 1/2 | 1347/2366 | 1021/1665 | 341/554 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
CDY1_chrY_25617117_25629902 | 25623510 | TA | T | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0001 | 1 | 92 | 0.0109 | -1 | c.107 others(5): Show |
p.Asn others(5): Show |
CDY1 | ENSG00000172288.8 | transcript | ENST00000306609.5 | protein_coding | 1/2 | 1396/2366 | 1070/1665 | 357/554 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
CDY1_chrY_25617117_25629902 | 25623626 | GTGCATCC others(10): Show |
G | frameshift_variant | HIGH | NA18985.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0002 | 1 | 92 | 0.0109 | -17 | c.118 others(26): Show |
p.Ala others(5): Show |
CDY1 | ENSG00000172288.8 | transcript | ENST00000306609.5 | protein_coding | 1/2 | 1512/2366 | 1186/1665 | 396/554 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
CDY1_chrY_25617117_25629902 | 25623722 | G | GT | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0001 | 1 | 92 | 0.0109 | 1 | c.128 others(5): Show |
p.Ser others(5): Show |
CDY1 | ENSG00000172288.8 | transcript | ENST00000306609.5 | protein_coding | 1/2 | 1609/2366 | 1283/1665 | 428/554 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
CDY1_chrY_25617117_25629902 | 25624473 | TA | T | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0001 | 1 | 92 | 0.0109 | -1 | c.161 others(5): Show |
p.Ala others(5): Show |
CDY1 | ENSG00000172288.8 | transcript | ENST00000306609.5 | protein_coding | 2/2 | 1940/2366 | 1614/1665 | 538/554 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
CEACAM20_chr19_44501159_44534675 | 44511144 | AG | A | frameshift_variant | HIGH | HG02040.hp2 NA18945.hp2 NA18946.hp1 others(5): Show |
a0012a0019 | a0012c0016a0019c0026 | a0012c0016t0001a0012c0016t0002a0019c0026t0001 | a0012c0016t0001g0289a0012c0016t0001g0295a0012c0016t0001g0309others(5): Show | 8 | 438 | 0.0183 | -1 | c.162 others(5): Show |
p.Pro others(5): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 11/12 | 1788/1959 | 1622/1791 | 541/596 | chr19 | TogoVar | ||
CELA1_chr12_51323442_51351679 | 51329814 | A | AG | frameshift_variant | HIGH | HG00099.hp2 HG00423.hp2 HG00639.hp2 others(43): Show |
a0002 | a0002c0004a0002c0007a0002c0009 | a0002c0004t0002a0002c0007t0002a0002c0009t0002 | a0002c0004t0002g0006a0002c0004t0002g0008a0002c0004t0002g0017others(19): Show | 46 | 406 | 0.1133 | 1 | c.628 others(4): Show |
p.Leu others(5): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 7/8 | 669/953 | 628/777 | 210/258 | chr12 | 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 | ||
CELA3B_chr1_21972022_21994354 | 21986599 | C | CTTTGTTT others(12): Show |
frameshift_variant | HIGH | HG02976.hp1 | a0012 | a0012c0023 | a0012c0023t0001 | a0012c0023t0001g0214 | 1 | 444 | 0.0023 | 19 | c.725 others(26): Show |
p.Gly others(5): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 7/8 | 744/906 | 726/813 | 242/270 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
CELSR1_chr22_46356174_46542620 | 46364570 | GTCCGGGG others(114): Show |
G | frameshift_variant | HIGH | NA20300.hp1 | a0026 | a0026c0038 | a0026c0038t0008 | a0026c0038t0008g0026 | 1 | 104 | 0.0096 | -121 | c.860 others(9): Show |
p.Ser others(6): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 33/35 | 9170/11559 | 8600/9060 | 2867/3019 | chr22 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133065138 | G | GGCGAGGA others(27): Show |
frameshift_variant | HIGH | HG04204.hp2 | a0031 | a0031c0048 | a0031c0048t0001 | a0031c0048t0001g0064 | 1 | 416 | 0.0024 | 34 | c.441 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 4/11 | 497/2381 | 475/2262 | 159/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071270 | G | GC | frameshift_variant | HIGH | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(42): Show |
a0001a0030 | a0001c0019a0001c0020a0001c0054others(40): Show | a0001c0019t0001a0001c0020t0001a0001c0054t0001others(40): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0020t0001g0001others(42): Show | 45 | 416 | 0.1082 | 1 | c.177 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1799/2381 | 1777/2262 | 593/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071273 | C | CCCCCCGT others(20691): Show |
frameshift_variant others(1): Show |
HIGH | NA18747.hp1 | a0004 | a0004c0147 | a0004c0147t0001 | a0004c0147t0001g0001 | 1 | 416 | 0.0024 | 20698 | c.193 others(20707): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1954/2381 | 1932/2262 | 644/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071304 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG00597.hp2 others(25): Show |
a0001a0005 | a0001c0019a0001c0054a0001c0055others(19): Show | a0001c0019t0001a0001c0054t0001a0001c0055t0001others(20): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0054t0001g0056others(23): Show | 28 | 416 | 0.0673 | -32 | c.181 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1832/2381 | 1810/2262 | 604/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071304 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | HG00438.hp1 HG00738.hp1 HG02647.hp2 others(3): Show |
a0001a0005 | a0001c0056a0001c0057a0001c0061others(3): Show | a0001c0056t0001a0001c0057t0001a0001c0061t0001others(3): Show | a0001c0056t0001g0008a0001c0057t0001g0008a0001c0061t0001g0006others(3): Show | 6 | 416 | 0.0144 | -65 | c.181 others(74): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1832/2381 | 1810/2262 | 604/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071304 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | HG00735.hp2 HG02165.hp2 HG02602.hp1 others(4): Show |
a0005a0030 | a0005c0081a0005c0085a0005c0086others(4): Show | a0005c0081t0001a0005c0085t0001a0005c0086t0001others(4): Show | a0005c0081t0001g0010a0005c0085t0001g0010a0005c0086t0001g0007others(4): Show | 7 | 416 | 0.0168 | -98 | c.181 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1832/2381 | 1810/2262 | 604/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071306 | C | CCCCCCGT others(20382): Show |
frameshift_variant others(1): Show |
HIGH | HG00558.hp2 | a0003 | a0003c0163 | a0003c0163t0001 | a0003c0163t0001g0088 | 1 | 416 | 0.0024 | 20389 | c.196 others(20398): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1987/2381 | 1965/2262 | 655/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071337 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG01099.hp1 HG01106.hp1 HG01433.hp1 others(17): Show |
a0001a0008 | a0001c0063a0001c0065a0001c0067others(12): Show | a0001c0063t0001a0001c0065t0001a0001c0067t0001others(12): Show | a0001c0063t0001g0003a0001c0065t0001g0001a0001c0067t0001g0003others(14): Show | 20 | 416 | 0.0481 | -32 | c.184 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1865/2381 | 1843/2262 | 615/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071337 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | HG01099.hp2 HG02055.hp2 HG02698.hp2 others(2): Show |
a0001a0008a0067 | a0001c0064a0001c0066a0008c0103others(2): Show | a0001c0064t0001a0001c0066t0003a0008c0103t0001others(2): Show | a0001c0064t0001g0003a0001c0066t0003g0001a0008c0103t0001g0006others(2): Show | 5 | 416 | 0.0120 | -65 | c.184 others(74): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1865/2381 | 1843/2262 | 615/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071337 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | NA19072.hp1 | a0008 | a0008c0098 | a0008c0098t0001 | a0008c0098t0001g0004 | 1 | 416 | 0.0024 | -98 | c.184 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1865/2381 | 1843/2262 | 615/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20283): Show |
frameshift_variant others(1): Show |
HIGH | NA18947.hp1 | a0014 | a0014c0129 | a0014c0129t0001 | a0014c0129t0001g0004 | 1 | 416 | 0.0024 | 20290 | c.189 others(20299): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20286): Show |
frameshift_variant others(1): Show |
HIGH | NA18957.hp1 | a0015 | a0015c0132 | a0015c0132t0001 | a0015c0132t0001g0004 | 1 | 416 | 0.0024 | 20293 | c.189 others(20302): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20286): Show |
frameshift_variant others(1): Show |
HIGH | NA20300.hp1 | a0032 | a0032c0237 | a0032c0237t0001 | a0032c0237t0001g0040 | 1 | 416 | 0.0024 | 20293 | c.189 others(20302): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20286): Show |
frameshift_variant others(1): Show |
HIGH | NA19009.hp1 | a0021 | a0021c0133 | a0021c0133t0001 | a0021c0133t0001g0010 | 1 | 416 | 0.0024 | 20293 | c.189 others(20302): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20317): Show |
frameshift_variant others(1): Show |
HIGH | NA18943.hp1 | a0004 | a0004c0148 | a0004c0148t0001 | a0004c0148t0001g0060 | 1 | 416 | 0.0024 | 20324 | c.193 others(20333): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1954/2381 | 1932/2262 | 644/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20284): Show |
frameshift_variant others(1): Show |
HIGH | NA19070.hp2 | a0024 | a0024c0151 | a0024c0151t0001 | a0024c0151t0001g0001 | 1 | 416 | 0.0024 | 20291 | c.193 others(20300): Show |
p.Pro others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1954/2381 | 1932/2262 | 644/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20350): Show |
frameshift_variant others(1): Show |
HIGH | HG00280.hp2 | a0002 | a0002c0161 | a0002c0161t0001 | a0002c0161t0001g0007 | 1 | 416 | 0.0024 | 20357 | c.196 others(20366): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1987/2381 | 1965/2262 | 655/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071350 | G | GCCCACGG others(20251): Show |
frameshift_variant others(1): Show |
HIGH | NA19080.hp1 | a0021 | a0021c0135 | a0021c0135t0001 | a0021c0135t0001g0004 | 1 | 416 | 0.0024 | 20258 | c.189 others(20267): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071366 | GGGGCCCC others(91): Show |
G | frameshift_variant | HIGH | NA18979.hp1 | a0048 | a0048c0178 | a0048c0178t0001 | a0048c0178t0001g0010 | 1 | 416 | 0.0024 | -98 | c.186 others(107): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1890/2381 | 1868/2262 | 623/753 | INFO_REALIGN_3_PRIME | chr9 | 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 | 133071370 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00642.hp2 HG02145.hp2 NA18960.hp1 others(5): Show |
a0001a0007 | a0001c0068a0007c0113a0007c0115others(5): Show | a0001c0068t0001a0007c0113t0001a0007c0115t0002others(5): Show | a0001c0068t0001g0008a0007c0113t0001g0003a0007c0115t0002g0001others(5): Show | 8 | 416 | 0.0192 | -32 | c.187 others(41): 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 | 133071370 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | HG00609.hp1 HG02258.hp1 |
a0007 | a0007c0116a0007c0215 | a0007c0116t0001a0007c0215t0001 | a0007c0116t0001g0006a0007c0215t0001g0002 | 2 | 416 | 0.0048 | -65 | c.187 others(74): 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 |