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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEL_chr9_133056981_133076861 | 133064768 | C | T | splice_region_variant others(1): Show |
LOW | HG02683.hp1 | a0009 | a0009c0003 | a0009c0003t0001 | a0009c0003t0001g0069 | 1 | 416 | 0.0024 | 0 | c.340 others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 3/10 | chr9 | TogoVar | ||||||
CEL_chr9_133056981_133076861 | 133070979 | C | T | splice_region_variant others(1): Show |
LOW | HG02895.hp1 HG03195.hp1 HG03471.hp2 others(1): Show |
a0019a0034 | a0019c0014a0034c0053 | a0019c0014t0001a0034c0053t0001 | a0019c0014t0001g0017a0019c0014t0001g0052a0034c0053t0001g0017 | 4 | 416 | 0.0096 | 0 | c.148 others(6): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 10/10 | chr9 | TogoVar | ||||||
CEL_chr9_133056981_133076861 | 133071859 | C | G | splice_region_variant | LOW | HG02055.hp2 | a0001 | a0001c0066 | a0001c0066t0003 | a0001c0066t0003g0001 | 1 | 416 | 0.0024 | 0 | c.*95 others(3): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71685395 | T | TA | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(162): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0009a0001c0013others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(59): Show | a0001c0001t0001g0103a0001c0001t0001g0106a0001c0001t0001g0115others(162): Show | 165 | 320 | 0.5156 | 1 | c.395 others(7): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 23/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71685395 | T | TAA | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(118): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0009a0001c0013others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0288a0001c0001t0002g0001a0001c0001t0002g0109others(117): Show | 121 | 320 | 0.3781 | 2 | c.395 others(15): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 23/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71685395 | T | TAAA | splice_region_variant others(1): Show |
LOW | HG01255.hp2 HG02109.hp2 HG02300.hp1 others(5): Show |
a0001a0003a0007 | a0001c0001a0001c0013a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0300a0001c0001t0003g0130a0001c0001t0003g0190others(5): Show | 8 | 320 | 0.0250 | 3 | c.395 others(16): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 23/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71685395 | TA | T | splice_region_variant others(1): Show |
LOW | HG00735.hp1 HG01175.hp1 HG01934.hp2 others(4): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0005a0001c0001t0019a0001c0009t0005 | a0001c0001t0005g0216a0001c0001t0005g0217a0001c0001t0005g0260others(4): Show | 7 | 320 | 0.0219 | -1 | c.395 others(7): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 23/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71700644 | C | T | splice_region_variant others(1): Show |
LOW | HG01192.hp1 HG01943.hp2 HG02258.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0015a0002c0034a0003c0012others(1): Show | a0001c0015t0001a0001c0015t0006a0002c0034t0001others(4): Show | a0001c0015t0001g0027a0001c0015t0001g0176a0001c0015t0006g0219others(8): Show | 11 | 320 | 0.0344 | 0 | c.337 others(4): Show |
p.Thr others(7): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 19/24 | 3544/6152 | 3375/4152 | 1125/1383 | chr9 | TogoVar | ||
CEMIP2_chr9_71678366_71773513 | 71730922 | T | A | splice_region_variant others(1): Show |
LOW | HG01081.hp1 HG01884.hp2 HG02572.hp2 others(4): Show |
a0002a0007 | a0002c0008a0007c0014 | a0002c0008t0001a0002c0008t0003a0002c0008t0006others(4): Show | a0002c0008t0001g0088a0002c0008t0003g0092a0002c0008t0006g0091others(4): Show | 7 | 320 | 0.0219 | 0 | c.156 others(6): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 7/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71735001 | C | CA | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02109.hp1 HG02258.hp1 others(13): Show |
a0001a0006 | a0001c0001a0001c0015a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0257a0001c0001t0001g0288a0001c0001t0002g0300others(13): Show | 16 | 320 | 0.0500 | 1 | c.120 others(7): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 5/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71735001 | CAA | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(101): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0015a0001c0026others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0148others(101): Show | 104 | 320 | 0.3250 | -2 | c.120 others(15): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 5/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71735001 | CAAAA | C | splice_region_variant others(1): Show |
LOW | HG01070.hp1 HG01109.hp1 HG01167.hp1 others(25): Show |
a0005a0008 | a0005c0004a0005c0017a0008c0011others(1): Show | a0005c0004t0001a0005c0004t0007a0005c0004t0011others(11): Show | a0005c0004t0001g0231a0005c0004t0001g0232a0005c0004t0001g0233others(25): Show | 28 | 320 | 0.0875 | -4 | c.120 others(18): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 5/23 | chr9 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80779622 | G | T | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02280.hp2 HG02559.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(9): Show | a0001c0001t0001g0241a0001c0001t0001g0243a0001c0001t0005g0249others(11): Show | 14 | 254 | 0.0551 | 0 | c.-17 others(6): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80881136 | G | A | missense_variant others(1): Show |
MODERATE | HG00735.hp1 | a0008 | a0008c0022 | a0008c0022t0001 | a0008c0022t0001g0144 | 1 | 254 | 0.0039 | 0 | c.617 others(3): Show |
p.Arg others(6): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 6/30 | 1037/7353 | 617/4086 | 206/1361 | chr15 | TogoVar | ||
CEMIP_chr15_80774370_80956771 | 80936892 | G | A | splice_region_variant others(1): Show |
LOW | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0024 | 1 | 254 | 0.0039 | 0 | c.322 others(6): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 24/29 | chr15 | TogoVar | ||||||
CENPA_chr2_26781056_26799589 | 26793324 | G | C | splice_region_variant | LOW | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 382 | 0.0026 | 0 | c.*45 others(3): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
CENPA_chr2_26781056_26799589 | 26793809 | C | T | splice_region_variant others(1): Show |
LOW | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 | 1 | 382 | 0.0026 | 0 | c.*48 others(5): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67474881 | G | A | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02145.hp1 |
a0007 | a0007c0009 | a0007c0009t0014 | a0007c0009t0014g0245a0007c0009t0014g0246 | 2 | 338 | 0.0059 | 0 | c.276 others(6): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 18/18 | chr4 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67512569 | C | A | missense_variant others(1): Show |
MODERATE | HG01167.hp1 HG02615.hp1 HG03579.hp2 |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0063a0005c0005t0002g0064a0005c0005t0002g0065 | 3 | 338 | 0.0089 | 0 | c.144 others(4): Show |
p.Gly others(6): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 9/19 | 1593/6823 | 1445/2832 | 482/943 | chr4 | TogoVar | ||
CENPC_chr4_67463762_67550503 | 67530807 | G | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(227): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0012a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0079others(222): Show | 230 | 338 | 0.6805 | 0 | c.331 others(5): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 5/18 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103139790 | C | G | missense_variant others(1): Show |
MODERATE | HG02148.hp1 | a0020 | a0020c0021 | a0020c0021t0001 | a0020c0021t0001g0015 | 1 | 320 | 0.0031 | 0 | c.620 others(4): Show |
p.Arg others(7): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 38/49 | 6227/8541 | 6203/8106 | 2068/2701 | chr4 | TogoVar | ||
CENPE_chr4_103100811_103203343 | 103141914 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(168): Show |
a0001a0002a0003others(14): Show | a0001c0004a0001c0007a0001c0013others(21): Show | a0001c0004t0001a0001c0007t0001a0001c0013t0001others(21): Show | a0001c0004t0001g0069a0001c0004t0001g0070a0001c0004t0001g0071others(161): Show | 171 | 320 | 0.5344 | 0 | c.530 others(6): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 34/48 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103174906 | A | G | splice_region_variant others(1): Show |
LOW | HG01070.hp2 HG01192.hp2 HG01891.hp1 others(30): Show |
a0001a0004a0013others(2): Show | a0001c0004a0001c0015a0004c0005others(3): Show | a0001c0004t0001a0001c0015t0001a0004c0005t0001others(3): Show | a0001c0004t0001g0069a0001c0004t0001g0070a0001c0004t0001g0071others(29): Show | 33 | 320 | 0.1031 | 0 | c.148 others(6): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 15/48 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103196255 | A | AAAC | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG01070.hp2 HG01192.hp2 others(31): Show |
a0001a0004a0013others(2): Show | a0001c0001a0001c0004a0001c0015others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0015t0001others(4): Show | a0001c0001t0001g0067a0001c0004t0001g0069a0001c0004t0001g0070others(30): Show | 34 | 320 | 0.1063 | 3 | c.149 others(14): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 2/48 | chr4 | TogoVar | ||||||
CENPH_chr5_69184583_69215357 | 69194694 | G | A | missense_variant others(1): Show |
MODERATE | NA18992.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0305 | 1 | 388 | 0.0026 | 0 | c.238 others(3): Show |
p.Ala others(5): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 3/9 | 290/1354 | 238/744 | 80/247 | chr5 | TogoVar | ||
CENPI_chrX_101093204_101171126 | 101162827 | C | T | splice_region_variant others(1): Show |
LOW | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0243 | 1 | 282 | 0.0036 | 0 | c.213 others(6): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 21/21 | chrX | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24892636 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(333): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0004others(23): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0014others(31): Show | a0001c0001t0004g0015a0001c0001t0004g0042a0001c0001t0004g0043others(218): Show | 336 | 440 | 0.7636 | 0 | c.321 others(6): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 10/16 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24892872 | C | CA | splice_region_variant others(1): Show |
LOW | HG00673.hp2 HG01175.hp1 HG01934.hp1 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0008a0001c0002t0001a0002c0003t0003others(7): Show | a0001c0001t0008g0140a0001c0001t0008g0141a0001c0002t0001g0240others(20): Show | 44 | 440 | 0.1000 | 1 | c.299 others(7): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 9/16 | chr13 | TogoVar | ||||||
CENPK_chr5_65512766_65568168 | 65529023 | G | A | splice_region_variant others(1): Show |
LOW | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341 | 1 | 374 | 0.0027 | 0 | c.372 others(5): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 7/10 | chr5 | TogoVar | ||||||
CENPL_chr1_173794550_173829883 | 173824025 | G | GA | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0022a0001c0001t0001g0049a0001c0001t0001g0148others(35): Show | 80 | 358 | 0.2235 | 1 | c.-10 others(7): Show |
CENPL | ENSG00000120334.16 | transcript | ENST00000682279.1 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939159 | ACCAGGCG others(37): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18939.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0139 | 1 | 258 | 0.0039 | -44 | c.403 others(53): Show |
p.Val others(5): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 6/6 | 515/938 | 403/543 | 135/180 | chr22 | TogoVar | ||
CENPM_chr22_41933737_41952152 | 41945304 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(85): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0003c0005others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0001others(3): Show | a0001c0002t0002g0001a0001c0002t0002g0005a0001c0002t0002g0012others(71): Show | 88 | 258 | 0.3411 | 0 | c.231 others(3): Show |
p.Ser others(5): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 4/6 | 307/938 | 231/543 | 77/180 | chr22 | TogoVar | ||
CENPM_chr22_41933737_41952152 | 41947013 | C | T | splice_region_variant others(1): Show |
LOW | HG02896.hp1 HG02976.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130a0001c0001t0003g0131a0001c0001t0003g0132 | 3 | 258 | 0.0116 | 0 | c.57+ others(4): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
CENPN_chr16_81002214_81036485 | 81011926 | A | G | splice_region_variant others(1): Show |
LOW | NA18747.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0149 | 1 | 398 | 0.0025 | 0 | c.-10 others(5): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
CENPN_chr16_81002214_81036485 | 81026519 | C | T | splice_region_variant others(1): Show |
LOW | HG00597.hp2 HG00673.hp2 HG01074.hp2 others(59): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0003a0002c0001t0009others(5): Show | a0002c0001t0002g0003a0002c0001t0002g0009a0002c0001t0002g0022others(31): Show | 62 | 398 | 0.1558 | 0 | c.698 others(5): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 8/10 | chr16 | TogoVar | ||||||
CENPN_chr16_81002214_81036485 | 81028566 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0010others(7): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(34): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0006others(114): Show | 222 | 398 | 0.5578 | 0 | c.938 others(5): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
CENPQ_chr6_49458370_49498107 | 49470140 | A | AT | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(47): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0008 | a0001c0001t0001a0003c0003t0002a0003c0003t0003others(1): Show | a0001c0001t0001g0069a0001c0001t0001g0160a0003c0003t0002g0001others(26): Show | 50 | 362 | 0.1381 | 1 | c.-18 others(6): Show |
CENPQ | ENSG00000031691.7 | transcript | ENST00000335783.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CENPQ_chr6_49458370_49498107 | 49470140 | AT | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00438.hp2 HG00544.hp2 others(93): Show |
a0002a0004a0006 | a0002c0002a0004c0004a0006c0006 | a0002c0002t0002a0002c0002t0003a0002c0002t0008others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0004a0002c0002t0002g0015others(47): Show | 96 | 362 | 0.2652 | -1 | c.-18 others(6): Show |
CENPQ | ENSG00000031691.7 | transcript | ENST00000335783.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CENPS_chr1_10425433_10447808 | 10434694 | G | T | splice_region_variant others(1): Show |
LOW | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 410 | 0.0024 | 0 | c.209 others(5): Show |
CENPS | ENSG00000175279.22 | transcript | ENST00000309048.8 | protein_coding | 3/4 | chr1 | TogoVar | ||||||
CENPS_chr1_10425433_10447808 | 10442250 | AT | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(188): Show | 335 | 410 | 0.8171 | -1 | c.277 others(6): Show |
CENPS | ENSG00000175279.22 | transcript | ENST00000309048.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CENPT_chr16_67823157_67852693 | 67832320 | C | T | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0159a0001c0001t0005g0160 | 2 | 266 | 0.0075 | 0 | c.202 others(5): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 5/15 | chr16 | TogoVar | ||||||
CENPT_chr16_67823157_67852693 | 67834104 | T | C | splice_region_variant others(1): Show |
LOW | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 266 | 0.0038 | 0 | c.-24 others(6): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 3/15 | chr16 | TogoVar | ||||||
CENPT_chr16_67823157_67852693 | 67847403 | A | G | splice_region_variant | LOW | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0029 | 1 | 266 | 0.0038 | 0 | c.-49 others(4): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 1/16 | chr16 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184710184 | A | G | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(48): Show |
a0003a0005a0006others(1): Show | a0003c0003a0003c0008a0005c0005others(3): Show | a0003c0003t0003a0003c0008t0004a0005c0005t0004others(4): Show | a0003c0003t0003g0026a0003c0003t0003g0027a0003c0003t0003g0245others(37): Show | 51 | 358 | 0.1425 | 0 | c.689 others(5): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184713017 | CA | C | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(48): Show |
a0003a0005a0006others(1): Show | a0003c0003a0003c0008a0005c0005others(3): Show | a0003c0003t0003a0003c0008t0004a0005c0005t0004others(4): Show | a0003c0003t0003g0026a0003c0003t0003g0027a0003c0003t0003g0245others(37): Show | 51 | 358 | 0.1425 | -1 | c.619 others(6): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 6/12 | chr4 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184716389 | G | A | splice_region_variant others(1): Show |
LOW | NA19030.hp1 | a0010 | a0010c0013 | a0010c0013t0005 | a0010c0013t0005g0125 | 1 | 358 | 0.0028 | 0 | c.618 others(5): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 6/12 | chr4 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184734017 | C | T | missense_variant others(1): Show |
MODERATE | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
a0002a0006a0009others(1): Show | a0002c0002a0002c0012a0006c0006others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(5): Show | a0002c0002t0001g0031a0002c0002t0001g0121a0002c0002t0002g0001others(109): Show | 138 | 358 | 0.3855 | 0 | c.46G others(2): Show |
p.Gly others(5): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 1/13 | 80/2494 | 46/1257 | 16/418 | chr4 | TogoVar | ||
CENPX_chr17_82013703_82027878 | 82019386 | G | A | splice_region_variant others(1): Show |
LOW | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 402 | 0.0025 | 0 | c.143 others(5): Show |
CENPX | ENSG00000169689.15 | transcript | ENST00000392359.8 | protein_coding | 3/4 | chr17 | TogoVar | ||||||
CENPX_chr17_82013703_82027878 | 82019838 | GCCCGCAC others(5): Show |
G | splice_region_variant others(1): Show |
LOW | HG03453.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 402 | 0.0050 | -12 | c.88+ others(22): Show |
CENPX | ENSG00000169689.15 | transcript | ENST00000392359.8 | protein_coding | 2/4 | chr17 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3823176 | C | T | missense_variant others(1): Show |
MODERATE | HG02145.hp1 HG02572.hp2 HG03225.hp1 |
a0004 | a0004c0007 | a0004c0007t0009 | a0004c0007t0009g0241a0004c0007t0009g0245a0004c0007t0009g0250 | 3 | 382 | 0.0079 | 0 | c.256 others(4): Show |
p.Glu others(6): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 20/22 | 2906/6431 | 2569/2778 | 857/925 | chr1 | TogoVar |