view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |
a0012a0020 | a0012c0016a0020c0026 | a0012c0016t0001a0012c0016t0002a0020c0026t0001 | a0012c0016t0001g0047 a0012c0016t0001g0256 a0012c0016t0001g0260 others(4): Show |
8 | 436 | 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 |
a0001 | a0001c0004a0001c0007a0001c0009 | a0001c0004t0002a0001c0007t0002a0001c0009t0002 | a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0022 others(14): Show |
46 | 404 | 0.1139 | 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 |
a0001 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(97): Show |
211 | 404 | 0.5223 | -1 | c.10d others(3): Show |
p.Leu others(3): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1/8 | 51/953 | 10/777 | 4/258 | chr12 | TogoVar | |||
CELA3B_chr1_21972022_21994354 | 21986599 | C | CTTTGTTT others(12): Show |
frameshift_variant | HIGH | HG02976.hp1 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0165 | 1 | 442 | 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 | a0045 | a0045c0037 | a0045c0037t0008 | a0045c0037t0008g0026 | 1 | 102 | 0.0098 | -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 | a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0064 | 1 | 414 | 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 |
a0001a0002 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(19): Show |
45 | 414 | 0.1087 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 413 | 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 |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(7): Show |
28 | 401 | 0.0698 | -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 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(1): Show |
6 | 379 | 0.0158 | -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 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(3): Show |
7 | 380 | 0.0184 | -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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 414 | 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 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(4): Show |
20 | 408 | 0.0490 | -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 |
a0001a0011 | a0001c0001a0011c0012 | a0001c0001t0001a0001c0001t0003a0011c0012t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0039 others(2): Show |
5 | 393 | 0.0127 | -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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 389 | 0.0026 | -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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 405 | 0.0025 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 405 | 0.0025 | 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 | a0018 | a0018c0023 | a0018c0023t0001 | a0018c0023t0001g0040 | 1 | 405 | 0.0025 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 405 | 0.0025 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 405 | 0.0025 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 405 | 0.0025 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 413 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 414 | 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 |
a0001a0010 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(12): Show |
24 | 408 | 0.0588 | 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 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(5): Show |
8 | 412 | 0.0194 | -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 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0002t0001g0002 |
2 | 406 | 0.0049 | -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 | ||
CEL_chr9_133056981_133076861 | 133071373 | CCCCCGTG others(256): Show |
C | frameshift_variant | HIGH | HG03195.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0017 | 1 | 414 | 0.0024 | -263 | c.187 others(9): 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 | 133071402 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(11): Show |
28 | 410 | 0.0683 | 1 | c.190 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1931/2381 | 1909/2262 | 637/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071403 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00544.hp2 HG00558.hp1 HG01109.hp2 others(12): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0005c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0005c0007t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(6): Show |
15 | 410 | 0.0366 | -32 | c.190 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1931/2381 | 1909/2262 | 637/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071403 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | HG02293.hp1 NA18987.hp1 NA19003.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0038 others(1): Show |
4 | 399 | 0.0100 | -98 | c.190 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1931/2381 | 1909/2262 | 637/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071432 | GGGGCCCC others(91): Show |
G | frameshift_variant | HIGH | HG00280.hp1 HG00642.hp1 HG01175.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0002t0001a0003c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0002t0001g0026 others(1): Show |
5 | 414 | 0.0121 | -98 | c.194 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071433 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00621.hp1 HG00621.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(7): Show |
18 | 414 | 0.0435 | 1 | c.193 others(10): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1954/2381 | 1932/2262 | 644/753 | chr9 | TogoVar | |||
CEL_chr9_133056981_133076861 | 133071435 | G | GC | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp2 HG01099.hp2 others(20): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0001t0002a0001c0022t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(7): Show |
23 | 384 | 0.0599 | 1 | c.194 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071435 | G | GCCCCCCC others(27): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 362 | 0.0028 | 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 | 133071435 | G | GCCCCCCC others(60): Show |
frameshift_variant others(1): Show |
HIGH | HG01167.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 363 | 0.0055 | 67 | c.196 others(76): 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 | 133071435 | G | GCCCCCCC others(20353): Show |
frameshift_variant others(1): Show |
HIGH | HG04204.hp2 | a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0064 | 1 | 362 | 0.0028 | 20360 | c.196 others(20369): 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 | 133071435 | GCCCCCCC others(27): Show |
G | frameshift_variant | HIGH | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 362 | 0.0028 | -34 | c.194 others(43): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1963/2381 | 1941/2262 | 647/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071436 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG01243.hp1 HG04115.hp2 HG04228.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(3): Show |
8 | 409 | 0.0196 | -32 | c.194 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071436 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | NA18906.hp2 NA18954.hp1 |
a0001a0002 | a0001c0002a0002c0013 | a0001c0002t0001a0002c0013t0001 | a0001c0002t0001g0002 a0002c0013t0001g0036 |
2 | 403 | 0.0050 | -65 | c.194 others(74): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071436 | CCCCCCCC others(90): Show |
C | frameshift_variant | HIGH | HG00733.hp2 HG01517.hp2 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0002 | 2 | 403 | 0.0050 | -97 | c.194 others(106): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071436 | CCCCCCCC others(157): Show |
C | frameshift_variant | HIGH | HG02896.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0022 | 1 | 402 | 0.0025 | -164 | c.194 others(9): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071465 | GGGGCCCC others(91): Show |
G | frameshift_variant | HIGH | HG01433.hp2 HG01934.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 2 | 414 | 0.0048 | -98 | c.196 others(107): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1988/2381 | 1966/2262 | 656/753 | 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 |
a0001a0008a0017 | a0001c0001a0001c0002a0008c0020others(1): Show | a0001c0001t0001a0001c0002t0001a0008c0020t0001others(1): Show | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(13): Show |
38 | 397 | 0.0957 | 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 | 133071468 | G | GC | frameshift_variant | HIGH | HG01109.hp2 HG01169.hp2 HG01175.hp1 others(20): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show |
23 | 334 | 0.0689 | 1 | c.197 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071469 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG02071.hp2 HG02109.hp2 HG02280.hp1 others(8): Show |
a0001a0016 | a0001c0001a0016c0011 | a0001c0001t0001a0001c0001t0002a0016c0011t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(6): Show |
11 | 413 | 0.0266 | -32 | c.197 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071469 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 403 | 0.0025 | -98 | c.197 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071500 | CGCCCCCC others(25): Show |
C | frameshift_variant | HIGH | NA19063.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 411 | 0.0049 | -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 |