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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKRD16_chr10_5856616_5894893 | 5889171 | T | C | missense_variant | MODERATE | HG01243.hp2 | a0007 | a0007c0015 | a0007c0015t0005 | a0007c0015t0005g0343 | 1 | 392 | 0.0026 | 0 | c.184 others(3): Show |
p.Met others(5): Show |
ANKRD16 | ENSG00000134461.16 | transcript | ENST00000380094.10 | protein_coding | 1/8 | 723/2734 | 184/1086 | 62/361 | chr10 | TogoVar | ||
ANKRD16_chr10_5856616_5894893 | 5889195 | C | G | missense_variant | MODERATE | HG03098.hp2 | a0008 | a0008c0012 | a0008c0012t0008 | a0008c0012t0008g0056 | 1 | 392 | 0.0026 | 0 | c.160 others(3): Show |
p.Ala others(5): Show |
ANKRD16 | ENSG00000134461.16 | transcript | ENST00000380094.10 | protein_coding | 1/8 | 699/2734 | 160/1086 | 54/361 | chr10 | TogoVar | ||
ANKRD16_chr10_5856616_5894893 | 5889246 | C | T | missense_variant | MODERATE | NA18947.hp1 NA19007.hp1 NA19056.hp2 others(1): Show |
a0005 | a0005c0007 | a0005c0007t0009a0005c0007t0024 | a0005c0007t0009g0032a0005c0007t0009g0034a0005c0007t0009g0035others(1): Show | 4 | 392 | 0.0102 | 0 | c.109 others(3): Show |
p.Gly others(5): Show |
ANKRD16 | ENSG00000134461.16 | transcript | ENST00000380094.10 | protein_coding | 1/8 | 648/2734 | 109/1086 | 37/361 | chr10 | TogoVar | ||
ANKRD16_chr10_5856616_5894893 | 5889267 | C | T | missense_variant | MODERATE | HG00558.hp1 HG00597.hp2 HG00609.hp1 others(21): Show |
a0003a0005 | a0003c0004a0005c0007 | a0003c0004t0001a0003c0004t0004a0003c0004t0009others(3): Show | a0003c0004t0001g0036a0003c0004t0001g0038a0003c0004t0001g0040others(21): Show | 24 | 392 | 0.0612 | 0 | c.88G others(2): Show |
p.Gly others(5): Show |
ANKRD16 | ENSG00000134461.16 | transcript | ENST00000380094.10 | protein_coding | 1/8 | 627/2734 | 88/1086 | 30/361 | chr10 | TogoVar | ||
ANKRD16_chr10_5856616_5894893 | 5889342 | C | T | missense_variant | MODERATE | NA18522.hp1 | a0009 | a0009c0011 | a0009c0011t0019 | a0009c0011t0019g0031 | 1 | 392 | 0.0026 | 0 | c.13G others(2): Show |
p.Gly others(4): Show |
ANKRD16 | ENSG00000134461.16 | transcript | ENST00000380094.10 | protein_coding | 1/8 | 552/2734 | 13/1086 | 5/361 | chr10 | TogoVar | ||
ANKRD17_chr4_73068376_73263798 | 73077407 | C | G | missense_variant | MODERATE | HG02602.hp2 HG02738.hp2 HG03831.hp2 |
a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0001a0002c0006t0007g0002a0002c0006t0007g0003 | 3 | 292 | 0.0103 | 0 | c.753 others(4): Show |
p.Gly others(7): Show |
ANKRD17 | ENSG00000132466.20 | transcript | ENST00000358602.9 | protein_coding | 32/34 | 7665/10797 | 7535/7812 | 2512/2603 | chr4 | TogoVar | ||
ANKRD17_chr4_73068376_73263798 | 73085434 | A | G | missense_variant | MODERATE | HG02027.hp2 | a0005 | a0005c0017 | a0005c0017t0002 | a0005c0017t0002g0097 | 1 | 292 | 0.0034 | 0 | c.697 others(4): Show |
p.Met others(7): Show |
ANKRD17 | ENSG00000132466.20 | transcript | ENST00000358602.9 | protein_coding | 30/34 | 7104/10797 | 6974/7812 | 2325/2603 | chr4 | TogoVar | ||
ANKRD17_chr4_73068376_73263798 | 73091404 | G | A | missense_variant | MODERATE | HG01952.hp1 | a0004 | a0004c0018 | a0004c0018t0001 | a0004c0018t0001g0186 | 1 | 292 | 0.0034 | 0 | c.622 others(4): Show |
p.Ser others(7): Show |
ANKRD17 | ENSG00000132466.20 | transcript | ENST00000358602.9 | protein_coding | 29/34 | 6354/10797 | 6224/7812 | 2075/2603 | chr4 | TogoVar | ||
ANKRD17_chr4_73068376_73263798 | 73144762 | T | C | missense_variant | MODERATE | NA18956.hp2 | a0006 | a0006c0023 | a0006c0023t0001 | a0006c0023t0001g0231 | 1 | 292 | 0.0034 | 0 | c.194 others(4): Show |
p.Gln others(6): Show |
ANKRD17 | ENSG00000132466.20 | transcript | ENST00000358602.9 | protein_coding | 11/34 | 2070/10797 | 1940/7812 | 647/2603 | chr4 | TogoVar | ||
ANKRD17_chr4_73068376_73263798 | 73155636 | G | A | missense_variant | MODERATE | NA18939.hp1 | a0003 | a0003c0024 | a0003c0024t0002 | a0003c0024t0002g0087 | 1 | 292 | 0.0034 | 0 | c.995 others(3): Show |
p.Ser others(6): Show |
ANKRD17 | ENSG00000132466.20 | transcript | ENST00000358602.9 | protein_coding | 5/34 | 1125/10797 | 995/7812 | 332/2603 | chr4 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38572059 | C | A | missense_variant others(1): Show |
MODERATE | NA19057.hp2 | a0031 | a0031c0033 | a0031c0033t0001 | a0031c0033t0001g0174 | 1 | 402 | 0.0025 | 0 | c.296 others(4): Show |
p.Val others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 16/16 | 3276/3971 | 2965/2979 | 989/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38575535 | T | C | missense_variant | MODERATE | HG01884.hp1 HG02280.hp2 HG02559.hp1 others(2): Show |
a0011a0034 | a0011c0010a0034c0042 | a0011c0010t0006a0011c0010t0013a0011c0010t0017others(1): Show | a0011c0010t0006g0280a0011c0010t0006g0289a0011c0010t0013g0284others(2): Show | 5 | 402 | 0.0124 | 0 | c.290 others(4): Show |
p.Ile others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 15/16 | 3216/3971 | 2905/2979 | 969/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38575605 | T | G | missense_variant | MODERATE | HG00735.hp2 HG01167.hp2 HG01169.hp1 others(19): Show |
a0006a0008a0013others(3): Show | a0006c0006a0008c0007a0013c0016others(3): Show | a0006c0006t0001a0006c0006t0003a0006c0006t0006others(11): Show | a0006c0006t0001g0022a0006c0006t0001g0233a0006c0006t0003g0335others(17): Show | 22 | 402 | 0.0547 | 0 | c.283 others(4): Show |
p.Glu others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 15/16 | 3146/3971 | 2835/2979 | 945/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38575615 | G | A | missense_variant | MODERATE | HG00423.hp2 HG02074.hp2 HG02572.hp2 others(1): Show |
a0029a0033a0035others(1): Show | a0029c0035a0033c0043a0035c0025others(1): Show | a0029c0035t0016a0033c0043t0001a0035c0025t0003others(1): Show | a0029c0035t0016g0037a0033c0043t0001g0167a0035c0025t0003g0282others(1): Show | 4 | 402 | 0.0100 | 0 | c.282 others(4): Show |
p.Thr others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 15/16 | 3136/3971 | 2825/2979 | 942/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38575640 | T | C | missense_variant | MODERATE | HG00423.hp2 HG01934.hp2 HG02630.hp1 others(4): Show |
a0017a0021a0024others(2): Show | a0017c0022a0021c0018a0024c0031others(2): Show | a0017c0022t0003a0017c0022t0010a0021c0018t0003others(4): Show | a0017c0022t0003g0346a0017c0022t0010g0031a0021c0018t0003g0324others(4): Show | 7 | 402 | 0.0174 | 0 | c.280 others(4): Show |
p.Lys others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 15/16 | 3111/3971 | 2800/2979 | 934/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38575649 | G | C | missense_variant | MODERATE | HG00423.hp2 | a0029 | a0029c0035 | a0029c0035t0016 | a0029c0035t0016g0037 | 1 | 402 | 0.0025 | 0 | c.279 others(4): Show |
p.Gln others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 15/16 | 3102/3971 | 2791/2979 | 931/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38575657 | G | A | missense_variant | MODERATE | HG00423.hp2 | a0029 | a0029c0035 | a0029c0035t0016 | a0029c0035t0016g0037 | 1 | 402 | 0.0025 | 0 | c.278 others(4): Show |
p.Thr others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 15/16 | 3094/3971 | 2783/2979 | 928/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38575685 | T | C | missense_variant | MODERATE | NA20129.hp2 | a0025 | a0025c0032 | a0025c0032t0006 | a0025c0032t0006g0352 | 1 | 402 | 0.0025 | 0 | c.275 others(4): Show |
p.Ile others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 15/16 | 3066/3971 | 2755/2979 | 919/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38577095 | C | G | missense_variant | MODERATE | HG01261.hp1 HG01358.hp2 HG01496.hp2 others(15): Show |
a0010a0016a0017others(6): Show | a0010c0012a0016c0019a0016c0027others(7): Show | a0010c0012t0003a0010c0012t0006a0016c0019t0004others(12): Show | a0010c0012t0003g0348a0010c0012t0003g0351a0010c0012t0006g0028others(13): Show | 18 | 402 | 0.0448 | 0 | c.269 others(4): Show |
p.Gly others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 14/16 | 3010/3971 | 2699/2979 | 900/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38577104 | G | A | missense_variant | MODERATE | HG01261.hp1 HG01358.hp2 HG01496.hp2 others(15): Show |
a0010a0016a0017others(6): Show | a0010c0012a0016c0019a0016c0027others(7): Show | a0010c0012t0003a0010c0012t0006a0016c0019t0004others(12): Show | a0010c0012t0003g0348a0010c0012t0003g0351a0010c0012t0006g0028others(13): Show | 18 | 402 | 0.0448 | 0 | c.269 others(4): Show |
p.Ala others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 14/16 | 3001/3971 | 2690/2979 | 897/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38577161 | G | C | missense_variant | MODERATE | NA19077.hp1 | a0026 | a0026c0038 | a0026c0038t0001 | a0026c0038t0001g0145 | 1 | 402 | 0.0025 | 0 | c.263 others(4): Show |
p.Ser others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 14/16 | 2944/3971 | 2633/2979 | 878/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38577170 | C | A | missense_variant | MODERATE | HG01243.hp2 HG02451.hp2 |
a0022 | a0022c0021 | a0022c0021t0006 | a0022c0021t0006g0026 | 2 | 402 | 0.0050 | 0 | c.262 others(4): Show |
p.Cys others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 14/16 | 2935/3971 | 2624/2979 | 875/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38577242 | T | C | missense_variant | MODERATE | HG00408.hp2 HG00741.hp1 HG01106.hp2 others(12): Show |
a0005a0007a0036 | a0005c0005a0007c0008a0036c0026 | a0005c0005t0003a0005c0005t0004a0005c0005t0006others(5): Show | a0005c0005t0003g0323a0005c0005t0004g0013a0005c0005t0006g0025others(10): Show | 15 | 402 | 0.0373 | 0 | c.255 others(4): Show |
p.Gln others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 14/16 | 2863/3971 | 2552/2979 | 851/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38586250 | C | T | missense_variant | MODERATE | HG02300.hp1 HG02630.hp2 HG02818.hp2 others(7): Show |
a0017a0018a0019others(3): Show | a0017c0022a0018c0023a0019c0020others(3): Show | a0017c0022t0003a0017c0022t0010a0018c0023t0003others(6): Show | a0017c0022t0003g0346a0017c0022t0010g0031a0018c0023t0003g0349others(6): Show | 10 | 402 | 0.0249 | 0 | c.218 others(4): Show |
p.Ser others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 12/16 | 2491/3971 | 2180/2979 | 727/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38588576 | G | A | missense_variant | MODERATE | HG02886.hp2 HG03139.hp1 HG03195.hp2 others(3): Show |
a0017a0019a0023others(1): Show | a0017c0022a0019c0020a0023c0024others(1): Show | a0017c0022t0003a0017c0022t0010a0019c0020t0003others(2): Show | a0017c0022t0003g0346a0017c0022t0010g0031a0019c0020t0003g0029others(2): Show | 6 | 402 | 0.0149 | 0 | c.209 others(4): Show |
p.Arg others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 11/16 | 2403/3971 | 2092/2979 | 698/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38588605 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(178): Show |
a0003a0004a0005others(17): Show | a0003c0003a0003c0040a0003c0041others(22): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(53): Show | a0003c0003t0001g0018a0003c0003t0001g0019a0003c0003t0001g0138others(168): Show | 181 | 402 | 0.4503 | 0 | c.206 others(4): Show |
p.Tyr others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 11/16 | 2374/3971 | 2063/2979 | 688/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38588623 | A | G | missense_variant | MODERATE | HG02970.hp2 NA20129.hp2 |
a0025a0035 | a0025c0032a0035c0025 | a0025c0032t0006a0035c0025t0003 | a0025c0032t0006g0352a0035c0025t0003g0282 | 2 | 402 | 0.0050 | 0 | c.204 others(4): Show |
p.Leu others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 11/16 | 2356/3971 | 2045/2979 | 682/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38595511 | C | T | missense_variant | MODERATE | HG02630.hp2 HG02818.hp2 |
a0018 | a0018c0023 | a0018c0023t0003a0018c0023t0023 | a0018c0023t0003g0349a0018c0023t0023g0363 | 2 | 402 | 0.0050 | 0 | c.182 others(4): Show |
p.Cys others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 9/16 | 2140/3971 | 1829/2979 | 610/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38595620 | T | C | missense_variant | MODERATE | HG00099.hp1 | a0032 | a0032c0039 | a0032c0039t0002 | a0032c0039t0002g0163 | 1 | 402 | 0.0025 | 0 | c.172 others(4): Show |
p.Ile others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 9/16 | 2031/3971 | 1720/2979 | 574/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38595889 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(153): Show |
a0003a0004a0008others(8): Show | a0003c0003a0003c0040a0003c0041others(13): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(36): Show | a0003c0003t0001g0018a0003c0003t0001g0019a0003c0003t0001g0138others(145): Show | 156 | 402 | 0.3881 | 0 | c.145 others(4): Show |
p.Asn others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 9/16 | 1762/3971 | 1451/2979 | 484/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38596120 | T | G | missense_variant | MODERATE | HG02630.hp2 HG02818.hp2 |
a0018 | a0018c0023 | a0018c0023t0003a0018c0023t0023 | a0018c0023t0003g0349a0018c0023t0023g0363 | 2 | 402 | 0.0050 | 0 | c.122 others(4): Show |
p.Lys others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 9/16 | 1531/3971 | 1220/2979 | 407/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38603191 | G | T | missense_variant | MODERATE | NA20129.hp2 | a0025 | a0025c0032 | a0025c0032t0006 | a0025c0032t0006g0352 | 1 | 402 | 0.0025 | 0 | c.830 others(3): Show |
p.Ala others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 7/16 | 1141/3971 | 830/2979 | 277/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38607440 | C | T | missense_variant | MODERATE | HG02970.hp2 NA20129.hp2 |
a0025a0035 | a0025c0032a0035c0025 | a0025c0032t0006a0035c0025t0003 | a0025c0032t0006g0352a0035c0025t0003g0282 | 2 | 402 | 0.0050 | 0 | c.794 others(3): Show |
p.Arg others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 6/16 | 1105/3971 | 794/2979 | 265/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38610360 | A | T | missense_variant | MODERATE | HG02630.hp1 | a0024 | a0024c0031 | a0024c0031t0003 | a0024c0031t0003g0311 | 1 | 402 | 0.0025 | 0 | c.653 others(3): Show |
p.Leu others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 5/16 | 964/3971 | 653/2979 | 218/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38615701 | C | T | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(181): Show |
a0002a0004a0005others(13): Show | a0002c0002a0002c0011a0004c0004others(18): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0005others(43): Show | a0002c0002t0003g0004a0002c0002t0003g0265a0002c0002t0003g0272others(157): Show | 184 | 402 | 0.4577 | 0 | c.388 others(3): Show |
p.Glu others(6): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 3/16 | 699/3971 | 388/2979 | 130/992 | chr9 | TogoVar | ||
ANKRD18A_chr9_38566364_38625596 | 38616010 | C | T | missense_variant | MODERATE | HG02486.hp1 HG02572.hp1 HG02886.hp2 others(3): Show |
a0009a0023 | a0009c0009a0023c0024 | a0009c0009t0003a0023c0024t0006 | a0009c0009t0003g0006a0009c0009t0003g0354a0009c0009t0003g0355others(1): Show | 6 | 402 | 0.0149 | 0 | c.241 others(3): Show |
p.Val others(5): Show |
ANKRD18A | ENSG00000180071.21 | transcript | ENST00000399703.6 | protein_coding | 2/16 | 552/3971 | 241/2979 | 81/992 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33524686 | G | A | missense_variant | MODERATE | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(280): Show |
a0001a0002a0004others(16): Show | a0001c0001a0001c0010a0001c0011others(32): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(40): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0017others(244): Show | 283 | 374 | 0.7567 | 0 | c.197 others(3): Show |
p.Arg others(5): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 1/19 | 436/4160 | 197/3342 | 66/1113 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33541192 | G | A | missense_variant | MODERATE | HG03942.hp1 | a0014 | a0014c0024 | a0014c0024t0001 | a0014c0024t0001g0140 | 1 | 374 | 0.0027 | 0 | c.104 others(4): Show |
p.Arg others(6): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 9/19 | 1282/4160 | 1043/3342 | 348/1113 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33548098 | A | T | missense_variant | MODERATE | HG01884.hp2 HG02055.hp1 HG02257.hp1 others(7): Show |
a0007a0015a0026 | a0007c0007a0015c0042a0026c0050 | a0007c0007t0002a0007c0007t0008a0015c0042t0001others(1): Show | a0007c0007t0002g0016a0007c0007t0002g0093a0007c0007t0002g0100others(6): Show | 10 | 374 | 0.0267 | 0 | c.131 others(4): Show |
p.Asn others(6): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 11/19 | 1549/4160 | 1310/3342 | 437/1113 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33548101 | C | T | missense_variant | MODERATE | NA18960.hp2 NA18980.hp2 |
a0011 | a0011c0021 | a0011c0021t0001 | a0011c0021t0001g0239a0011c0021t0001g0240 | 2 | 374 | 0.0054 | 0 | c.131 others(4): Show |
p.Ala others(6): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 11/19 | 1552/4160 | 1313/3342 | 438/1113 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33548472 | C | T | missense_variant | MODERATE | HG02132.hp2 | a0016 | a0016c0041 | a0016c0041t0001 | a0016c0041t0001g0132 | 1 | 374 | 0.0027 | 0 | c.168 others(4): Show |
p.Arg others(6): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 11/19 | 1923/4160 | 1684/3342 | 562/1113 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33548473 | G | A | missense_variant | MODERATE | HG02818.hp2 HG03139.hp2 |
a0012 | a0012c0022 | a0012c0022t0008 | a0012c0022t0008g0052a0012c0022t0008g0060 | 2 | 374 | 0.0054 | 0 | c.168 others(4): Show |
p.Arg others(6): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 11/19 | 1924/4160 | 1685/3342 | 562/1113 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33548692 | G | A | missense_variant | MODERATE | HG00280.hp1 HG00408.hp1 HG00438.hp1 others(15): Show |
a0005a0009a0017others(3): Show | a0005c0005a0009c0030a0009c0031others(4): Show | a0005c0005t0006a0005c0005t0009a0009c0030t0009others(5): Show | a0005c0005t0006g0023a0005c0005t0006g0026a0005c0005t0006g0178others(13): Show | 18 | 374 | 0.0481 | 0 | c.190 others(4): Show |
p.Arg others(6): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 11/19 | 2143/4160 | 1904/3342 | 635/1113 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33548701 | G | T | missense_variant | MODERATE | HG02809.hp2 | a0025 | a0025c0029 | a0025c0029t0003 | a0025c0029t0003g0113 | 1 | 374 | 0.0027 | 0 | c.191 others(4): Show |
p.Gly others(6): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 11/19 | 2152/4160 | 1913/3342 | 638/1113 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33558115 | C | G | missense_variant | MODERATE | HG01069.hp2 HG01071.hp2 HG01361.hp2 |
a0013a0024 | a0013c0023a0024c0037 | a0013c0023t0002a0024c0037t0001 | a0013c0023t0002g0012a0024c0037t0001g0209 | 3 | 374 | 0.0080 | 0 | c.238 others(4): Show |
p.Asp others(6): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 14/19 | 2627/4160 | 2388/3342 | 796/1113 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33558126 | A | G | missense_variant | MODERATE | HG01891.hp2 HG02717.hp1 HG02809.hp1 |
a0017a0018a0028 | a0017c0033a0018c0032a0028c0047 | a0017c0033t0001a0018c0032t0006a0028c0047t0011 | a0017c0033t0001g0176a0018c0032t0006g0177a0028c0047t0011g0044 | 3 | 374 | 0.0080 | 0 | c.239 others(4): Show |
p.His others(6): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 14/19 | 2638/4160 | 2399/3342 | 800/1113 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33566268 | A | G | missense_variant | MODERATE | HG03098.hp1 | a0023 | a0023c0040 | a0023c0040t0003 | a0023c0040t0003g0201 | 1 | 374 | 0.0027 | 0 | c.251 others(4): Show |
p.Asn others(6): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 15/19 | 2749/4160 | 2510/3342 | 837/1113 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33566372 | A | G | missense_variant | MODERATE | HG00140.hp1 HG00741.hp2 HG01081.hp1 others(37): Show |
a0004a0008a0012others(3): Show | a0004c0004a0004c0009a0008c0013others(4): Show | a0004c0004t0001a0004c0004t0004a0004c0004t0013others(7): Show | a0004c0004t0001g0018a0004c0004t0001g0021a0004c0004t0001g0033others(31): Show | 40 | 374 | 0.1070 | 0 | c.261 others(4): Show |
p.Lys others(6): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 15/19 | 2853/4160 | 2614/3342 | 872/1113 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33566397 | T | C | missense_variant | MODERATE | HG01074.hp1 | a0022 | a0022c0036 | a0022c0036t0005 | a0022c0036t0005g0301 | 1 | 374 | 0.0027 | 0 | c.263 others(4): Show |
p.Met others(6): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 15/19 | 2878/4160 | 2639/3342 | 880/1113 | chr9 | TogoVar | ||
ANKRD18B_chr9_33519251_33578013 | 33566429 | C | A | missense_variant | MODERATE | HG02647.hp1 | a0020 | a0020c0034 | a0020c0034t0010 | a0020c0034t0010g0324 | 1 | 374 | 0.0027 | 0 | c.267 others(4): Show |
p.Gln others(6): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 15/19 | 2910/4160 | 2671/3342 | 891/1113 | chr9 | TogoVar |