20-33460810-T-C
|
n.120+6T>C |
splice_region |
ACSS2 |
3594 |
9888 |
0.363471 |
4944 |
94 |
0.682245 |
20-33462819-G-T
|
c.-84G>T |
5_prime_UTR_premature_start_codon_gain |
ACSS2 |
1 |
58582 |
1.70701E-5 |
29291 |
0 |
NA |
20-33462824-C-A
|
c.-79C>A |
5_prime_UTR_premature_start_codon_gain |
ACSS2 |
1 |
58566 |
1.70748E-5 |
29283 |
0 |
NA |
20-33462900-GA-G
|
p.Met1fs |
frameshift |
ACSS2 |
3 |
58930 |
5.09079E-5 |
29465 |
0 |
NA |
20-33462913-G-A
|
p.Arg4Lys |
missense |
ACSS2 |
4 |
58922 |
6.78864E-5 |
29461 |
0 |
6.81122E-5 |
20-33462921-C-T
|
p.Leu7Phe |
missense |
ACSS2 |
1 |
58912 |
1.69745E-5 |
29456 |
0 |
4.00657E-6 |
20-33464358-A-G
|
c.-91A>G |
5_prime_UTR_premature_start_codon_gain |
ACSS2 |
1 |
39176 |
2.55258E-5 |
19588 |
0 |
3.21792E-5 |
20-33464383-C-T
|
c.-66C>T |
5_prime_UTR_premature_start_codon_gain |
ACSS2 |
1 |
47206 |
2.11837E-5 |
23603 |
0 |
NA |
20-33464398-C-T
|
c.-51C>T |
5_prime_UTR_premature_start_codon_gain |
ACSS2 |
1 |
50836 |
1.96711E-5 |
25418 |
0 |
NA |
20-33464414-C-T
|
c.-35C>T |
5_prime_UTR_premature_start_codon_gain |
ACSS2 |
1 |
55352 |
1.80662E-5 |
27676 |
0 |
1.90676E-4 |
20-33464435-A-G
|
c.-14A>G |
5_prime_UTR_premature_start_codon_gain |
ACSS2 |
1 |
60444 |
1.65442E-5 |
30222 |
0 |
NA |
20-33464449-ATG-A
|
p.Met1fs |
frameshift |
ACSS2 |
1 |
62278 |
1.6057E-5 |
31139 |
0 |
NA |
20-33464450-T-A
|
p.Met1? |
start_lost |
ACSS2 |
1 |
62376 |
1.60318E-5 |
31188 |
0 |
NA |
20-33464452-G-C
|
p.Gly2Arg |
missense |
ACSS2 |
3 |
62680 |
4.78622E-5 |
31340 |
0 |
6.39386E-4 |
20-33464453-G-A
|
p.Gly2Glu |
missense |
ACSS2 |
1 |
62502 |
1.59995E-5 |
31251 |
0 |
NA |
20-33464455-C-T
|
p.Leu3Phe |
missense |
ACSS2 |
1 |
62288 |
1.60545E-5 |
31144 |
0 |
NA |
20-33464467-C-A
|
p.Arg7Arg |
synonymous |
ACSS2 |
2 |
61306 |
3.26232E-5 |
30653 |
0 |
NA |
20-33464475-G-C
|
p.Arg9Arg |
synonymous |
ACSS2 |
1 |
60134 |
1.66295E-5 |
30067 |
0 |
0.00104493 |
20-33464502-G-A
|
p.Glu18Glu |
synonymous |
ACSS2 |
1 |
55088 |
1.81528E-5 |
27544 |
0 |
2.81452E-4 |
20-33464503-G-A
|
p.Glu19Lys |
missense |
ACSS2 |
2 |
54872 |
3.64485E-5 |
27436 |
0 |
3.1902E-5 |
20-33464528-G-C
|
p.Arg27Pro |
missense |
ACSS2 |
2 |
48314 |
4.13959E-5 |
24157 |
0 |
9.5761E-5 |
20-33464532-T-C
|
p.Ser28Ser |
synonymous |
ACSS2 |
1 |
47194 |
2.11891E-5 |
23597 |
0 |
1.23784E-5 |
20-33464534-G-C
|
p.Trp29Ser |
missense |
ACSS2 |
27 |
46882 |
5.75914E-4 |
23441 |
0 |
3.31565E-4 |
20-33464550-G-A
|
p.Glu34Glu |
splice_region+synonymous |
ACSS2 |
1 |
43654 |
2.29074E-5 |
21827 |
0 |
NA |
20-33464572-C-A
|
p.Pro42Thr |
missense |
ACSS2 |
65 |
40314 |
0.00161234 |
20157 |
1 |
0.00475643 |
20-33464582-A-G
|
p.Gln45Arg |
missense |
ACSS2 |
4 |
38940 |
1.02722E-4 |
19470 |
0 |
1.91681E-4 |
20-33464585-G-A
|
p.Arg46His |
missense |
ACSS2 |
1 |
38428 |
2.60227E-5 |
19214 |
0 |
NA |
20-33464590-C-G
|
p.Arg48Gly |
missense |
ACSS2 |
1 |
37436 |
2.67123E-5 |
18718 |
0 |
NA |
20-33464603-G-C
|
p.Arg52Pro |
missense |
ACSS2 |
2 |
35926 |
5.567E-5 |
17963 |
0 |
7.47384E-4 |
20-33470590-G-C
|
c.179-7G>C |
splice_region |
ACSS2 |
3 |
79926 |
3.75347E-5 |
39963 |
0 |
8.24606E-6 |
20-33470613-T-C
|
p.Leu40Ser |
missense |
ACSS2 |
1 |
80180 |
1.24719E-5 |
40090 |
0 |
NA |
20-33470617-A-G
|
p.Lys67Glu |
missense |
ACSS2 |
1 |
80246 |
1.24617E-5 |
40123 |
0 |
NA |
20-33470642-G-A
|
p.Cys75Tyr |
missense |
ACSS2 |
1 |
80574 |
1.2411E-5 |
40287 |
0 |
NA |
20-33470659-C-T
|
p.Arg81Trp |
missense |
ACSS2 |
16 |
80644 |
1.98403E-4 |
40322 |
0 |
1.40026E-4 |
20-33470660-G-A
|
p.Arg81Gln |
missense |
ACSS2 |
3 |
80674 |
3.71867E-5 |
40337 |
0 |
6.37064E-5 |
20-33470663-A-T
|
p.Tyr82Phe |
missense |
ACSS2 |
1 |
80710 |
1.239E-5 |
40355 |
0 |
4.94218E-5 |
20-33470674-G-A
|
p.Val86Met |
missense |
ACSS2 |
1 |
80724 |
1.23879E-5 |
40362 |
0 |
5.97519E-5 |
20-33470694-C-T
|
p.Phe92Phe |
synonymous |
ACSS2 |
45230 |
80404 |
0.562534 |
40202 |
13102 |
0.675625 |
20-33470696-T-C
|
p.Ile93Thr |
missense |
ACSS2 |
3 |
80764 |
3.71453E-5 |
40382 |
0 |
8.23696E-6 |
20-33470703-G-A
|
p.Trp95* |
stop_gained |
ACSS2 |
1 |
80720 |
1.23885E-5 |
40360 |
0 |
NA |
20-33470715-A-G
|
p.Ala99Ala |
synonymous |
ACSS2 |
1 |
80666 |
1.23968E-5 |
40333 |
0 |
8.23723E-6 |
20-33470721-C-T
|
p.Thr101Thr |
synonymous |
ACSS2 |
2 |
80628 |
2.48053E-5 |
40314 |
0 |
3.98346E-6 |
20-33470736-T-C
|
p.Asn106Asn |
synonymous |
ACSS2 |
7 |
80490 |
8.69673E-5 |
40245 |
0 |
5.76682E-5 |
20-33470737-G-C
|
p.Val107Leu |
missense |
ACSS2 |
26 |
80478 |
3.2307E-4 |
40239 |
0 |
6.04941E-4 |
20-33470739-A-G
|
p.Val107Val |
synonymous |
ACSS2 |
4 |
80462 |
4.97129E-5 |
40231 |
0 |
1.20021E-5 |
20-33470746-C-G
|
p.Arg110Gly |
missense |
ACSS2 |
1 |
80336 |
1.24477E-5 |
40168 |
0 |
4.04325E-6 |
20-33470747-G-A
|
p.Arg110Gln |
missense |
ACSS2 |
2 |
80304 |
2.49054E-5 |
40152 |
0 |
2.83059E-5 |
20-33470756-A-G
|
p.His113Arg |
missense |
ACSS2 |
1 |
80212 |
1.2467E-5 |
40106 |
0 |
3.18329E-5 |
20-33470773-G-T
|
p.Asp119Tyr |
missense |
ACSS2 |
8 |
79958 |
1.00053E-4 |
39979 |
0 |
5.7925E-5 |
20-33470782-G-A
|
p.Ala122Thr |
missense |
ACSS2 |
4 |
79682 |
5.01995E-5 |
39841 |
0 |
1.59266E-4 |
20-33470790-C-T
|
p.Tyr124Tyr |
splice_region+synonymous |
ACSS2 |
1 |
79584 |
1.25653E-5 |
39792 |
0 |
3.18634E-5 |
20-33470791-T-C
|
p.Ter75Argext*? |
stop_lost |
ACSS2 |
2 |
79560 |
2.51383E-5 |
39780 |
0 |
6.36821E-5 |
20-33470795-A-G
|
c.374+3A>G |
splice_region |
ACSS2 |
1 |
79446 |
1.25872E-5 |
39723 |
0 |
6.37755E-4 |
20-33481364-A-T
|
c.375-8A>T |
splice_region |
ACSS2 |
1 |
10 |
0.1 |
5 |
0 |
0.104681 |
20-33481409-C-G
|
p.Gln138Glu |
missense |
ACSS2 |
5 |
372 |
0.0134409 |
186 |
1 |
0.079661 |
20-33496711-C-T
|
p.Ser126Ser |
synonymous |
ACSS2 |
1 |
52592 |
1.90143E-5 |
26296 |
0 |
NA |
20-33496726-A-G
|
p.Ser131Ser |
synonymous |
ACSS2 |
2 |
52604 |
3.80199E-5 |
26302 |
0 |
NA |
20-33496730-T-C
|
p.Tyr133His |
missense |
ACSS2 |
11 |
52604 |
2.0911E-4 |
26302 |
0 |
1.62201E-4 |
20-33496740-C-T
|
p.Thr136Ile |
missense |
ACSS2 |
1 |
52598 |
1.90121E-5 |
26299 |
0 |
8.02143E-6 |
20-33496744-C-T
|
p.Cys137Cys |
splice_region+synonymous |
ACSS2 |
1 |
52604 |
1.901E-5 |
26302 |
0 |
7.98799E-6 |
20-33496747-G-GGAGGGCAA
|
c.413+1_413+2insGAGGGCAA |
splice_donor |
ACSS2 |
1 |
52612 |
1.90071E-5 |
26306 |
0 |
NA |
20-33500894-C-G
|
c.375-5C>G |
splice_region |
ACSS2 |
1 |
80956 |
1.23524E-5 |
40478 |
0 |
NA |
20-33500907-A-G
|
p.Asn128Ser |
missense |
ACSS2 |
33 |
81002 |
4.07397E-4 |
40501 |
0 |
3.82458E-4 |
20-33500908-T-A
|
p.Asn128Lys |
missense |
ACSS2 |
1 |
81008 |
1.23445E-5 |
40504 |
0 |
8.23642E-6 |
20-33500914-A-C
|
p.Pro130Pro |
synonymous |
ACSS2 |
2 |
81020 |
2.46853E-5 |
40510 |
0 |
NA |
20-33500920-G-A
|
p.Glu132Glu |
synonymous |
ACSS2 |
1 |
81030 |
1.23411E-5 |
40515 |
0 |
NA |
20-33500939-C-T
|
p.His139Tyr |
missense |
ACSS2 |
1 |
81026 |
1.23417E-5 |
40513 |
0 |
NA |
20-33500968-C-A
|
p.Phe148Leu |
missense |
ACSS2 |
1 |
81030 |
1.23411E-5 |
40515 |
0 |
3.9769E-6 |
20-33500973-A-G
|
p.Asn150Ser |
missense |
ACSS2 |
1 |
81020 |
1.23426E-5 |
40510 |
0 |
1.19307E-5 |
20-33500981-C-T
|
p.Arg153* |
stop_gained |
ACSS2 |
1 |
81022 |
1.23423E-5 |
40511 |
0 |
8.23683E-6 |
20-33500982-G-A
|
p.Arg153Gln |
missense |
ACSS2 |
4 |
81018 |
4.93717E-5 |
40509 |
0 |
1.27437E-4 |
20-33500985-A-G
|
p.Lys154Arg |
missense |
ACSS2 |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
8.23683E-6 |
20-33500997-G-T
|
c.466+7G>T |
splice_region |
ACSS2 |
5 |
80974 |
6.17482E-5 |
40487 |
0 |
3.97757E-6 |
20-33501199-T-C
|
p.Ile157Thr |
missense |
ACSS2 |
1 |
80556 |
1.24137E-5 |
40278 |
0 |
2.47999E-5 |
20-33501200-TC-T
|
p.Gln158fs |
frameshift |
ACSS2 |
1 |
80552 |
1.24143E-5 |
40276 |
0 |
9.5645E-5 |
20-33501210-G-A
|
p.Asp161Asn |
missense |
ACSS2 |
6 |
80502 |
7.45323E-5 |
40251 |
0 |
1.19471E-5 |
20-33501214-G-A
|
p.Arg162Gln |
missense |
ACSS2 |
1 |
80484 |
1.24248E-5 |
40242 |
0 |
8.25655E-6 |
20-33501230-G-A
|
p.Met167Ile |
missense |
ACSS2 |
1 |
80412 |
1.2436E-5 |
40206 |
0 |
6.76832E-5 |
20-33501234-A-G
|
p.Met169Val |
missense |
ACSS2 |
1 |
80400 |
1.24378E-5 |
40200 |
0 |
8.25355E-6 |
20-33501235-T-C
|
p.Met169Thr |
missense |
ACSS2 |
2 |
80394 |
2.48775E-5 |
40197 |
0 |
NA |
20-33501245-G-A
|
n.256-5G>A |
splice_region |
ACSS2 |
1 |
80330 |
1.24486E-5 |
40165 |
0 |
3.98222E-6 |
20-33501246-C-G
|
p.Leu173Val |
missense |
ACSS2 |
2 |
80324 |
2.48992E-5 |
40162 |
0 |
NA |
20-33501258-A-C
|
p.Met177Leu |
missense |
ACSS2 |
1 |
80244 |
1.2462E-5 |
40122 |
0 |
NA |
20-33501271-C-T
|
p.Ala181Val |
missense |
ACSS2 |
82 |
80102 |
0.00102369 |
40051 |
0 |
8.32868E-4 |
20-33501301-TAGG-T
|
p.Ile189del |
disruptive_inframe_deletion |
ACSS2 |
1 |
79798 |
1.25316E-5 |
39899 |
0 |
NA |
20-33501569-C-T
|
p.Ser195Phe |
missense |
ACSS2 |
1 |
80778 |
1.23796E-5 |
40389 |
0 |
6.37471E-5 |
20-33501569-C-A
|
p.Ser195Tyr |
missense |
ACSS2 |
1 |
80778 |
1.23796E-5 |
40389 |
0 |
3.29489E-5 |
20-33501582-A-G
|
p.Leu199Leu |
synonymous |
ACSS2 |
1 |
80766 |
1.23814E-5 |
40383 |
0 |
6.37511E-5 |
20-33501583-T-C
|
p.Cys200Arg |
missense |
ACSS2 |
1 |
80770 |
1.23808E-5 |
40385 |
0 |
1.19372E-5 |
20-33501589-C-T
|
p.Arg202Trp |
missense |
ACSS2 |
1 |
80734 |
1.23864E-5 |
40367 |
0 |
2.78583E-5 |
20-33501593-TC-T
|
p.Leu204fs |
frameshift |
ACSS2 |
1 |
80736 |
1.2386E-5 |
40368 |
0 |
NA |
20-33501612-T-C
|
n.569T>C |
splice_region |
ACSS2 |
2 |
80662 |
2.47948E-5 |
40331 |
0 |
8.23859E-6 |
20-33501651-C-T
|
n.409-6C>T |
splice_region |
ACSS2 |
4 |
80300 |
4.98132E-5 |
40150 |
0 |
7.9769E-6 |
20-33501893-C-T
|
c.644-6C>T |
splice_region |
ACSS2 |
1 |
80936 |
1.23554E-5 |
40468 |
0 |
NA |
20-33501896-A-G
|
c.644-3A>G |
splice_region |
ACSS2 |
2 |
80950 |
2.47066E-5 |
40475 |
0 |
1.59188E-5 |
20-33501907-T-C
|
p.Tyr218His |
missense |
ACSS2 |
1 |
81002 |
1.23454E-5 |
40501 |
0 |
3.97826E-6 |
20-33501917-A-G
|
p.Glu221Gly |
missense |
ACSS2 |
1 |
81028 |
1.23414E-5 |
40514 |
0 |
3.3065E-5 |
20-33501918-A-C
|
p.Glu221Asp |
missense |
ACSS2 |
1 |
81032 |
1.23408E-5 |
40516 |
0 |
NA |
20-33501928-A-C
|
p.Asn225His |
missense |
ACSS2 |
1 |
81044 |
1.2339E-5 |
40522 |
0 |
NA |
20-33501931-C-T
|
p.Leu226Leu |
synonymous |
ACSS2 |
1 |
81044 |
1.2339E-5 |
40522 |
0 |
NA |
20-33501946-G-C
|
p.Asp231His |
missense |
ACSS2 |
11 |
81042 |
1.35732E-4 |
40521 |
0 |
1.3221E-4 |
20-33501948-C-T
|
p.Asp231Asp |
synonymous |
ACSS2 |
2 |
81042 |
2.46786E-5 |
40521 |
0 |
6.37146E-5 |
20-33501951-G-C
|
p.Glu232Asp |
missense |
ACSS2 |
7 |
81040 |
8.63771E-5 |
40520 |
0 |
3.18233E-5 |
20-33501953-C-A
|
p.Ala233Asp |
missense |
ACSS2 |
2 |
81030 |
2.46822E-5 |
40515 |
0 |
3.97763E-6 |
20-33501955-C-T
|
p.Leu234Leu |
synonymous |
ACSS2 |
1 |
81040 |
1.23396E-5 |
40520 |
0 |
NA |
20-33501958-C-A
|
p.Gln235Lys |
missense |
ACSS2 |
14 |
81042 |
1.7275E-4 |
40521 |
0 |
0.00107591 |
20-33501959-A-C
|
p.Gln235Pro |
missense |
ACSS2 |
1 |
81044 |
1.2339E-5 |
40522 |
0 |
1.65519E-5 |
20-33502120-C-T
|
c.720-6C>T |
splice_region |
ACSS2 |
1351 |
80312 |
0.0168219 |
40156 |
61 |
0.0338708 |
20-33502133-C-A
|
p.Pro243Thr |
missense |
ACSS2 |
1 |
80346 |
1.24462E-5 |
40173 |
0 |
NA |
20-33502160-C-T
|
p.His252Tyr |
missense |
ACSS2 |
1 |
80328 |
1.2449E-5 |
40164 |
0 |
3.99144E-6 |
20-33502162-C-T
|
p.His252His |
synonymous |
ACSS2 |
104 |
80350 |
0.00129434 |
40175 |
0 |
0.00331295 |
20-33502169-C-T
|
p.Arg255Trp |
missense |
ACSS2 |
2 |
80342 |
2.48936E-5 |
40171 |
0 |
3.32784E-5 |
20-33502170-G-A
|
p.Arg255Gln |
missense |
ACSS2 |
17 |
80354 |
2.11564E-4 |
40177 |
0 |
5.03525E-4 |
20-33502181-G-A
|
p.Gly259Ser |
missense |
ACSS2 |
31 |
80290 |
3.861E-4 |
40145 |
0 |
5.03525E-4 |
20-33502198-C-T
|
p.Thr264Thr |
synonymous |
ACSS2 |
1 |
80422 |
1.24344E-5 |
40211 |
0 |
NA |
20-33502205-T-TC
|
p.Ile270fs |
frameshift |
ACSS2 |
4 |
80394 |
4.9755E-5 |
40197 |
0 |
8.3724E-5 |
20-33502210-C-A
|
p.Pro268Pro |
synonymous |
ACSS2 |
1 |
80426 |
1.24338E-5 |
40213 |
0 |
NA |
20-33502223-T-A
|
p.Ser273Thr |
missense |
ACSS2 |
1 |
80398 |
1.24381E-5 |
40199 |
0 |
NA |
20-33502240-G-GATCTCATGGAACCAAGGGATTGACTT
|
c.834_834+1insATCTCATGGAACCAAGGGATTGACTT |
splice_donor |
ACSS2 |
5 |
80346 |
6.22309E-5 |
40173 |
2 |
NA |
20-33503013-C-G
|
c.835-8C>G |
splice_region |
ACSS2 |
1 |
80100 |
1.24844E-5 |
40050 |
0 |
NA |
20-33503026-A-G
|
p.Lys280Lys |
synonymous |
ACSS2 |
24 |
80136 |
2.99491E-4 |
40068 |
0 |
2.23271E-4 |
20-33503046-G-A
|
p.Arg287His |
missense |
ACSS2 |
4 |
80120 |
4.99251E-5 |
40060 |
0 |
7.63488E-5 |
20-33503047-T-A
|
p.Arg287Arg |
synonymous |
ACSS2 |
1 |
80122 |
1.2481E-5 |
40061 |
0 |
NA |
20-33503059-G-T
|
p.Gln291His |
missense+splice_region |
ACSS2 |
1 |
80100 |
1.24844E-5 |
40050 |
0 |
NA |
20-33503062-A-G
|
c.873+3A>G |
splice_region |
ACSS2 |
1 |
80088 |
1.24863E-5 |
40044 |
0 |
4.01845E-6 |
20-33507242-C-G
|
p.Ser293* |
stop_gained |
ACSS2 |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
NA |
20-33507243-A-G
|
p.Ser293Ser |
synonymous |
ACSS2 |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
NA |
20-33507260-A-C
|
p.Asp299Ala |
missense |
ACSS2 |
1 |
81008 |
1.23445E-5 |
40504 |
0 |
NA |
20-33507261-C-T
|
p.Asp299Asp |
synonymous |
ACSS2 |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
3.97716E-6 |
20-33507264-G-C
|
p.Leu300Phe |
missense |
ACSS2 |
1 |
81018 |
1.23429E-5 |
40509 |
0 |
8.2375E-6 |
20-33507266-G-A
|
p.Trp301* |
stop_gained |
ACSS2 |
5 |
81012 |
6.17192E-5 |
40506 |
0 |
8.23723E-6 |
20-33507273-T-G
|
p.His303Gln |
missense |
ACSS2 |
1 |
81010 |
1.23442E-5 |
40505 |
0 |
NA |
20-33507277-C-T
|
p.Leu305Phe |
missense |
ACSS2 |
1 |
81002 |
1.23454E-5 |
40501 |
0 |
8.23764E-6 |
20-33507280-A-G
|
p.Met306Val |
missense |
ACSS2 |
2 |
81002 |
2.46907E-5 |
40501 |
0 |
NA |
20-33507289-G-A
|
p.Ala309Thr |
missense |
ACSS2 |
1 |
80978 |
1.2349E-5 |
40489 |
0 |
NA |
20-33507292-G-T
|
p.Gly310Trp |
missense |
ACSS2 |
3 |
80970 |
3.70508E-5 |
40485 |
0 |
NA |
20-33507301-T-A
|
p.Cys313Ser |
missense |
ACSS2 |
746 |
80944 |
0.00921625 |
40472 |
22 |
0.0190857 |
20-33507304-G-A
|
p.Glu314Lys |
missense |
ACSS2 |
15 |
80944 |
1.85313E-4 |
40472 |
1 |
1.59469E-4 |
20-33507307-C-T
|
p.Pro315Ser |
missense |
ACSS2 |
12 |
80930 |
1.48276E-4 |
40465 |
0 |
6.70455E-4 |
20-33507309-C-T
|
p.Pro315Pro |
synonymous |
ACSS2 |
10 |
80912 |
1.23591E-4 |
40456 |
0 |
2.55395E-4 |
20-33507310-G-A
|
p.Glu316Lys |
missense |
ACSS2 |
1 |
80910 |
1.23594E-5 |
40455 |
0 |
3.18979E-5 |
20-33507324-C-T
|
p.Ala320Ala |
synonymous |
ACSS2 |
88 |
80774 |
0.00108946 |
40387 |
0 |
0.00503525 |
20-33507325-G-A
|
p.Glu321Lys |
missense |
ACSS2 |
4 |
80758 |
4.95307E-5 |
40379 |
0 |
2.78682E-5 |
20-33507330-C-T
|
p.Asp322Asp |
synonymous |
ACSS2 |
6 |
80684 |
7.43642E-5 |
40342 |
0 |
3.18634E-5 |
20-33507334-C-T
|
p.Leu324Phe |
missense |
ACSS2 |
1 |
80676 |
1.23953E-5 |
40338 |
0 |
NA |
20-33507335-T-G
|
p.Leu324Arg |
missense |
ACSS2 |
2 |
80654 |
2.47973E-5 |
40327 |
0 |
NA |
20-33507349-A-G
|
p.Thr329Ala |
missense |
ACSS2 |
1 |
80344 |
1.24465E-5 |
40172 |
0 |
NA |
20-33507372-C-G
|
p.Pro336Pro |
synonymous |
ACSS2 |
2 |
79618 |
2.51199E-5 |
39809 |
0 |
NA |
20-33507379-AGTGT-A
|
c.1011+5_1011+8delGTGT |
splice_region |
ACSS2 |
12612 |
72720 |
0.173432 |
36360 |
1050 |
0.280717 |
20-33507379-AGT-A
|
c.1011+5_1011+6delGT |
splice_region |
ACSS2 |
4427 |
73990 |
0.0598324 |
36995 |
127 |
0.0989203 |
20-33507379-AGTGTGTGTGTGTGT-A
|
c.1011+5_1011+18delGTGTGTGTGTGTGT |
splice_region |
ACSS2 |
153 |
79240 |
0.00193084 |
39620 |
2 |
NA |
20-33507379-AGTGTGTGT-A
|
c.1011+5_1011+12delGTGTGTGT |
splice_region |
ACSS2 |
5925 |
76290 |
0.0776642 |
38145 |
215 |
0.141057 |
20-33507379-AGTGTGT-A
|
c.1011+5_1011+10delGTGTGT |
splice_region |
ACSS2 |
2759 |
77418 |
0.0356377 |
38709 |
89 |
0.0635152 |
20-33507379-AGTGTGTGTGT-A
|
c.1011+5_1011+14delGTGTGTGTGT |
splice_region |
ACSS2 |
408 |
78982 |
0.00516573 |
39491 |
4 |
0.0122214 |
20-33507379-A-AGTGT
|
c.1011+4_1011+5insGTGT |
splice_region |
ACSS2 |
508 |
79078 |
0.00642404 |
39539 |
7 |
0.0215682 |
20-33507379-A-AGTGTGT
|
c.1011+4_1011+5insGTGTGT |
splice_region |
ACSS2 |
55 |
79276 |
6.93779E-4 |
39638 |
0 |
NA |
20-33507379-AGTGTGTGTGTGT-A
|
c.1011+5_1011+16delGTGTGTGTGTGT |
splice_region |
ACSS2 |
40 |
79292 |
5.04464E-4 |
39646 |
0 |
NA |
20-33507379-AGTGTGTGTGTGTGTGT-A
|
c.1011+5_1011+20delGTGTGTGTGTGTGTGT |
splice_region |
ACSS2 |
5 |
79312 |
6.30422E-5 |
39656 |
0 |
NA |
20-33507379-AGTGTGTGTGTGTGTGTGTGT-A
|
c.1011+5_1011+24delGTGTGTGTGTGTGTGTGTGT |
splice_region |
ACSS2 |
4 |
79312 |
5.04337E-5 |
39656 |
0 |
NA |
20-33507379-AGTGTGTGTGTGTGTGTGTGTGTGT-A
|
c.1011+5_1011+28delGTGTGTGTGTGTGTGTGTGTGTGT |
splice_region |
ACSS2 |
2 |
79314 |
2.52162E-5 |
39657 |
0 |
NA |
20-33507379-AGTGTGTGTGTGTGTGTGT-A
|
c.1011+5_1011+22delGTGTGTGTGTGTGTGTGT |
splice_region |
ACSS2 |
2 |
79314 |
2.52162E-5 |
39657 |
0 |
NA |
20-33507379-A-AGTGTGTGTGTGT
|
c.1011+4_1011+5insGTGTGTGTGTGT |
splice_region |
ACSS2 |
5 |
79314 |
6.30406E-5 |
39657 |
0 |
NA |
20-33507379-A-AGTGTGTGTGTGTGTGT
|
c.1011+4_1011+5insGTGTGTGTGTGTGTGT |
splice_region |
ACSS2 |
4 |
79314 |
5.04325E-5 |
39657 |
0 |
NA |
20-33508338-A-T
|
c.1012-4A>T |
splice_region |
ACSS2 |
1 |
79608 |
1.25616E-5 |
39804 |
0 |
NA |
20-33508358-T-C
|
p.Val343Ala |
missense |
ACSS2 |
152 |
79908 |
0.00190219 |
39954 |
2 |
0.0032482 |
20-33508369-A-G
|
p.Met347Val |
missense |
ACSS2 |
1 |
79954 |
1.25072E-5 |
39977 |
0 |
3.98448E-6 |
20-33508369-A-T
|
p.Met347Leu |
missense |
ACSS2 |
1 |
79954 |
1.25072E-5 |
39977 |
0 |
NA |
20-33508374-C-G
|
p.Leu348Leu |
synonymous |
ACSS2 |
2 |
79980 |
2.50063E-5 |
39990 |
0 |
NA |
20-33508376-A-G
|
p.Tyr349Cys |
missense |
ACSS2 |
2 |
79986 |
2.50044E-5 |
39993 |
0 |
8.2545E-6 |
20-33508395-G-A
|
p.Lys355Lys |
synonymous |
ACSS2 |
47 |
79810 |
5.88899E-4 |
39905 |
0 |
0.0020141 |
20-33508399-G-A
|
p.Val357Met |
missense |
ACSS2 |
1 |
79804 |
1.25307E-5 |
39902 |
0 |
3.98489E-6 |
20-33508425-G-A
|
p.Val365Val |
synonymous |
ACSS2 |
1 |
79324 |
1.26065E-5 |
39662 |
0 |
NA |
20-33508436-C-T
|
p.Thr369Met |
missense |
ACSS2 |
1 |
78936 |
1.26685E-5 |
39468 |
0 |
8.25614E-6 |
20-33508437-G-C
|
p.Thr369Thr |
synonymous |
ACSS2 |
8 |
78858 |
1.01448E-4 |
39429 |
0 |
9.55597E-5 |
20-33508437-G-A
|
p.Thr369Thr |
synonymous |
ACSS2 |
1 |
78862 |
1.26804E-5 |
39431 |
0 |
NA |
20-33508442-A-G
|
p.Asp371Gly |
missense |
ACSS2 |
1 |
78720 |
1.27033E-5 |
39360 |
0 |
NA |
20-33508446-TG-T
|
p.Gly373fs |
frameshift |
ACSS2 |
1 |
78636 |
1.27168E-5 |
39318 |
0 |
NA |
20-33508448-G-A
|
p.Gly373Asp |
missense |
ACSS2 |
1 |
78502 |
1.27385E-5 |
39251 |
0 |
NA |
20-33508453-A-G
|
p.Ile375Val |
missense |
ACSS2 |
2 |
78386 |
2.55148E-5 |
39193 |
0 |
NA |
20-33508457-C-T
|
p.Thr376Ile |
missense |
ACSS2 |
4 |
78374 |
5.10373E-5 |
39187 |
0 |
NA |
20-33508470-C-T
|
p.Tyr380Tyr |
synonymous |
ACSS2 |
2 |
78006 |
2.56391E-5 |
39003 |
0 |
1.66262E-5 |
20-33508471-G-A
|
p.Val381Ile |
missense |
ACSS2 |
3 |
77956 |
3.84832E-5 |
38978 |
0 |
1.91119E-4 |
20-33508486-C-T
|
p.Leu386Leu |
synonymous |
ACSS2 |
3 |
77864 |
3.85287E-5 |
38932 |
0 |
NA |
20-33508498-G-C
|
p.Ala390Pro |
missense |
ACSS2 |
1 |
77624 |
1.28826E-5 |
38812 |
0 |
8.474E-6 |
20-33508505-G-A
|
p.Ser392Asn |
missense |
ACSS2 |
1 |
77564 |
1.28926E-5 |
38782 |
0 |
1.70558E-5 |
20-33508511-T-C
|
p.Leu394Ser |
missense+splice_region |
ACSS2 |
1 |
77472 |
1.29079E-5 |
38736 |
0 |
1.21794E-5 |
20-33508520-G-A
|
c.1182+8G>A |
splice_region |
ACSS2 |
1 |
77244 |
1.2946E-5 |
38622 |
0 |
8.63841E-6 |
20-33508803-G-A
|
c.1183-6G>A |
splice_region |
ACSS2 |
1 |
80894 |
1.23619E-5 |
40447 |
0 |
NA |
20-33508807-A-G
|
c.1183-2A>G |
splice_acceptor |
ACSS2 |
1 |
80896 |
1.23616E-5 |
40448 |
0 |
NA |
20-33508826-A-G
|
p.Thr400Thr |
synonymous |
ACSS2 |
3080 |
80848 |
0.0380962 |
40424 |
347 |
0.081132 |
20-33508829-T-G
|
p.Tyr401* |
stop_gained |
ACSS2 |
1 |
80888 |
1.23628E-5 |
40444 |
0 |
8.23927E-6 |
20-33508831-C-T
|
p.Pro402Leu |
missense |
ACSS2 |
1 |
80898 |
1.23612E-5 |
40449 |
0 |
3.18878E-5 |
20-33508832-G-A
|
p.Pro402Pro |
synonymous |
ACSS2 |
2 |
80884 |
2.47268E-5 |
40442 |
0 |
6.25E-4 |
20-33508836-G-A
|
p.Val404Met |
missense |
ACSS2 |
2 |
80880 |
2.4728E-5 |
40440 |
0 |
8.23778E-6 |
20-33508840-A-G
|
p.Asn405Ser |
missense |
ACSS2 |
2 |
80866 |
2.47323E-5 |
40433 |
0 |
3.97864E-6 |
20-33508842-C-T
|
p.Arg406Cys |
missense |
ACSS2 |
1 |
80860 |
1.23671E-5 |
40430 |
0 |
8.23723E-6 |
20-33508843-G-T
|
p.Arg406Leu |
missense |
ACSS2 |
1 |
80838 |
1.23704E-5 |
40419 |
0 |
NA |
20-33508843-G-A
|
p.Arg406His |
missense |
ACSS2 |
1 |
80838 |
1.23704E-5 |
40419 |
0 |
8.23737E-6 |
20-33508854-A-C
|
p.Ile410Leu |
missense |
ACSS2 |
2 |
80814 |
2.47482E-5 |
40407 |
0 |
3.1955E-5 |
20-33508855-T-C
|
p.Ile410Thr |
missense |
ACSS2 |
1 |
80812 |
1.23744E-5 |
40406 |
0 |
1.64734E-5 |
20-33508863-A-G
|
p.Lys413Glu |
missense |
ACSS2 |
1 |
80778 |
1.23796E-5 |
40389 |
0 |
NA |
20-33508864-A-T
|
p.Lys413Ile |
missense |
ACSS2 |
1 |
80776 |
1.23799E-5 |
40388 |
0 |
NA |
20-33508872-G-A
|
p.Val416Met |
missense |
ACSS2 |
1 |
80730 |
1.2387E-5 |
40365 |
0 |
NA |
20-33508876-C-A
|
p.Thr417Asn |
missense |
ACSS2 |
4 |
80704 |
4.95638E-5 |
40352 |
0 |
1.27527E-4 |
20-33508891-C-T
|
p.Ala422Val |
missense |
ACSS2 |
1 |
80674 |
1.23956E-5 |
40337 |
0 |
NA |
20-33508897-C-T
|
p.Thr424Ile |
missense |
ACSS2 |
3 |
80680 |
3.71839E-5 |
40340 |
0 |
1.99007E-5 |
20-33508901-C-T
|
p.Ala425Ala |
synonymous |
ACSS2 |
1 |
80692 |
1.23928E-5 |
40346 |
0 |
NA |
20-33508906-G-A
|
p.Arg427His |
missense |
ACSS2 |
3 |
80694 |
3.71775E-5 |
40347 |
0 |
3.18593E-5 |
20-33508914-A-T
|
p.Met430Leu |
missense |
ACSS2 |
1 |
80734 |
1.23864E-5 |
40367 |
0 |
2.47117E-5 |
20-33508929-G-A
|
p.Glu435Lys |
missense |
ACSS2 |
2 |
80772 |
2.47611E-5 |
40386 |
0 |
1.98976E-5 |
20-33508934-T-C
|
p.Pro436Pro |
synonymous |
ACSS2 |
3 |
80778 |
3.71388E-5 |
40389 |
0 |
1.27429E-4 |
20-33508949-C-A
|
c.1316+7C>A |
splice_region |
ACSS2 |
1 |
80820 |
1.23732E-5 |
40410 |
0 |
3.98004E-6 |
20-33508950-C-G
|
c.1316+8C>G |
splice_region |
ACSS2 |
1 |
80830 |
1.23716E-5 |
40415 |
0 |
NA |
20-33509126-G-T
|
c.1317-7G>T |
splice_region |
ACSS2 |
1 |
80736 |
1.2386E-5 |
40368 |
0 |
3.98762E-6 |
20-33509132-G-C
|
c.1317-1G>C |
splice_acceptor |
ACSS2 |
2 |
80718 |
2.47776E-5 |
40359 |
0 |
NA |
20-33509140-C-A
|
p.Arg442Arg |
synonymous |
ACSS2 |
1 |
80710 |
1.239E-5 |
40355 |
0 |
3.5856E-5 |
20-33509140-C-T
|
p.Arg442Trp |
missense |
ACSS2 |
1 |
80710 |
1.239E-5 |
40355 |
0 |
3.18492E-5 |
20-33509142-GGCATCCTT-G
|
p.Ser444fs |
frameshift |
ACSS2 |
1 |
80702 |
1.23913E-5 |
40351 |
0 |
NA |
20-33509147-C-A
|
p.Ser444Tyr |
missense |
ACSS2 |
1 |
80662 |
1.23974E-5 |
40331 |
0 |
1.59304E-5 |
20-33509155-G-T
|
p.Val447Leu |
missense |
ACSS2 |
1 |
80636 |
1.24014E-5 |
40318 |
0 |
NA |
20-33509188-G-C
|
p.Glu458Gln |
missense |
ACSS2 |
2 |
80532 |
2.48348E-5 |
40266 |
0 |
NA |
20-33509195-G-A
|
p.Trp460* |
stop_gained |
ACSS2 |
2 |
80526 |
2.48367E-5 |
40263 |
0 |
8.24022E-6 |
20-33509199-A-G
|
p.Leu461Leu |
synonymous |
ACSS2 |
1 |
80528 |
1.2418E-5 |
40264 |
0 |
1.99027E-5 |
20-33509209-C-T
|
p.Arg465Trp |
missense |
ACSS2 |
1 |
80536 |
1.24168E-5 |
40268 |
0 |
3.29614E-5 |
20-33509210-G-A
|
p.Arg465Gln |
missense |
ACSS2 |
1 |
80544 |
1.24156E-5 |
40272 |
0 |
0.00100705 |
20-33509219-G-A
|
p.Gly468Asp |
missense |
ACSS2 |
1 |
80592 |
1.24082E-5 |
40296 |
0 |
NA |
20-33509224-C-G
|
p.Gln470Glu |
missense |
ACSS2 |
1 |
80606 |
1.2406E-5 |
40303 |
0 |
3.98064E-6 |
20-33509224-C-T
|
p.Gln470* |
stop_gained |
ACSS2 |
1 |
80606 |
1.2406E-5 |
40303 |
0 |
3.98064E-6 |
20-33509227-C-T
|
p.Arg471Cys |
missense |
ACSS2 |
8 |
80614 |
9.92383E-5 |
40307 |
0 |
7.96153E-5 |
20-33509233-C-A
|
p.Pro473Thr |
missense |
ACSS2 |
1 |
80660 |
1.23977E-5 |
40330 |
0 |
7.96121E-6 |
20-33509238-C-T
|
p.Ile474Ile |
synonymous |
ACSS2 |
5 |
80708 |
6.19517E-5 |
40354 |
0 |
0.00100705 |
20-33509239-G-A
|
p.Val475Met |
missense |
ACSS2 |
1 |
80714 |
1.23894E-5 |
40357 |
0 |
5.17409E-5 |
20-33509246-CCTT-C
|
p.Phe478del |
disruptive_inframe_deletion |
ACSS2 |
1 |
80728 |
1.23873E-5 |
40364 |
0 |
NA |
20-33509258-CAG-C
|
p.Glu482fs |
frameshift |
ACSS2 |
2 |
80820 |
2.47464E-5 |
40410 |
0 |
NA |
20-33509265-AGTGAGTGAAGGGTACAGAAGGCTGGGGCCCAGGGACAATGTGGGAAGATTGACTCAAATTTCTCATCTCTGACTTCCCCAG-A
|
c.1449+1_1450-1delGTGAGTGAAGGGTACAGAAGGCTGGGGCCCAGGGACAATGTGGGAAGATTGACTCAAATTTCTCATCTCTGACTTCCCCAG |
splice_acceptor |
ACSS2 |
7 |
80846 |
8.65844E-5 |
40423 |
0 |
NA |
20-33509341-C-G
|
c.1450-6C>G |
splice_region |
ACSS2 |
13 |
80916 |
1.6066E-4 |
40458 |
0 |
1.64731E-5 |
20-33509347-G-C
|
p.Gly484Arg |
missense+splice_region |
ACSS2 |
2 |
80900 |
2.47219E-5 |
40450 |
0 |
NA |
20-33509351-G-A
|
p.Gly485Asp |
missense |
ACSS2 |
1 |
80880 |
1.2364E-5 |
40440 |
0 |
4.37644E-5 |
20-33509356-A-G
|
p.Met487Val |
missense |
ACSS2 |
1 |
80842 |
1.23698E-5 |
40421 |
0 |
8.23655E-6 |
20-33509364-T-C
|
p.Thr489Thr |
synonymous |
ACSS2 |
1 |
80786 |
1.23784E-5 |
40393 |
0 |
NA |
20-33509366-C-G
|
p.Pro490Arg |
missense |
ACSS2 |
3 |
80790 |
3.71333E-5 |
40395 |
0 |
4.94193E-5 |
20-33509373-T-C
|
p.Pro492Pro |
synonymous |
ACSS2 |
1 |
80742 |
1.23851E-5 |
40371 |
0 |
NA |
20-33509377-G-A
|
p.Ala494Thr |
missense |
ACSS2 |
12 |
80724 |
1.48655E-4 |
40362 |
0 |
0.00100705 |
20-33509394-C-T
|
p.Pro499Pro |
synonymous |
ACSS2 |
13 |
80608 |
1.61274E-4 |
40304 |
0 |
2.42832E-4 |
20-33509395-G-A
|
p.Gly500Ser |
missense |
ACSS2 |
1 |
80610 |
1.24054E-5 |
40305 |
0 |
3.18492E-5 |
20-33509410-G-A
|
c.1506+7G>A |
splice_region |
ACSS2 |
1 |
80546 |
1.24153E-5 |
40273 |
0 |
NA |
20-33509582-C-T
|
c.1507-7C>T |
splice_region |
ACSS2 |
1 |
81054 |
1.23375E-5 |
40527 |
0 |
NA |
20-33509590-C-T
|
p.Thr503Ile |
missense+splice_region |
ACSS2 |
1 |
81068 |
1.23353E-5 |
40534 |
0 |
NA |
20-33509605-G-A
|
p.Gly508Asp |
missense |
ACSS2 |
1 |
81082 |
1.23332E-5 |
40541 |
0 |
3.9814E-6 |
20-33509607-G-A
|
p.Val509Ile |
missense |
ACSS2 |
1 |
81082 |
1.23332E-5 |
40541 |
0 |
5.03525E-4 |
20-33509608-T-C
|
p.Val509Ala |
missense |
ACSS2 |
84 |
81084 |
0.00103596 |
40542 |
0 |
0.00232038 |
20-33509632-C-A
|
p.Ser517Tyr |
missense |
ACSS2 |
1 |
81088 |
1.23323E-5 |
40544 |
0 |
1.65216E-5 |
20-33509633-C-G
|
p.Ser517Ser |
synonymous |
ACSS2 |
3 |
81086 |
3.69978E-5 |
40543 |
0 |
NA |
20-33509651-T-A
|
p.Gly523Gly |
synonymous |
ACSS2 |
1 |
81092 |
1.23317E-5 |
40546 |
0 |
NA |
20-33509655-G-A
|
p.Ala525Thr |
missense |
ACSS2 |
34 |
81094 |
4.19267E-4 |
40547 |
0 |
6.68832E-4 |
20-33509675-G-A
|
c.1587+6G>A |
splice_region |
ACSS2 |
2 |
81040 |
2.46792E-5 |
40520 |
0 |
3.18552E-5 |
20-33511122-C-T
|
c.1588-4C>T |
splice_region |
ACSS2 |
2 |
80724 |
2.47758E-5 |
40362 |
0 |
8.33611E-6 |
20-33511125-G-C
|
c.1588-1G>C |
splice_acceptor |
ACSS2 |
1 |
80752 |
1.23836E-5 |
40376 |
0 |
8.31794E-6 |
20-33511137-G-A
|
p.Ser129Asn |
missense |
ACSS2 |
3 |
80844 |
3.71085E-5 |
40422 |
0 |
NA |
20-33511141-T-C
|
p.Trp535Arg |
missense |
ACSS2 |
1 |
80876 |
1.23646E-5 |
40438 |
0 |
NA |
20-33511143-G-C
|
p.Trp535Cys |
missense |
ACSS2 |
1 |
80868 |
1.23658E-5 |
40434 |
0 |
NA |
20-33511153-A-G
|
p.Met539Val |
missense |
ACSS2 |
1 |
80918 |
1.23582E-5 |
40459 |
0 |
NA |
20-33511157-G-A
|
p.Arg540His |
missense |
ACSS2 |
3 |
80924 |
3.70718E-5 |
40462 |
0 |
2.47684E-5 |
20-33511160-C-A
|
p.Thr541Lys |
missense |
ACSS2 |
1 |
80924 |
1.23573E-5 |
40462 |
0 |
3.97757E-6 |
20-33511162-G-A
|
p.Val542Ile |
missense |
ACSS2 |
83 |
80938 |
0.00102548 |
40469 |
0 |
6.4433E-4 |
20-33511170-G-A
|
p.Gly140Glu |
missense |
ACSS2 |
3 |
80946 |
3.70617E-5 |
40473 |
0 |
6.37064E-5 |
20-33511176-C-T
|
p.Thr142Met |
missense |
ACSS2 |
5 |
80950 |
6.17665E-5 |
40475 |
0 |
3.18205E-5 |
20-33511177-G-A
|
p.Glu547Lys |
missense |
ACSS2 |
6 |
80948 |
7.41217E-5 |
40474 |
0 |
3.18471E-5 |
20-33511180-C-T
|
p.Arg548Cys |
missense |
ACSS2 |
1 |
80946 |
1.23539E-5 |
40473 |
0 |
9.55353E-5 |
20-33511182-C-T
|
p.Ala144Val |
missense |
ACSS2 |
1 |
80936 |
1.23554E-5 |
40468 |
0 |
3.97747E-6 |
20-33511189-A-T
|
p.Thr551Ser |
missense |
ACSS2 |
2 |
80932 |
2.47121E-5 |
40466 |
0 |
0.00151057 |
20-33511194-C-G
|
p.Pro148Arg |
missense |
ACSS2 |
1 |
80926 |
1.2357E-5 |
40463 |
0 |
NA |
20-33511203-G-C
|
p.Lys555Asn |
missense |
ACSS2 |
1 |
80898 |
1.23612E-5 |
40449 |
0 |
NA |
20-33511224-T-C
|
p.Leu158Ser |
missense |
ACSS2 |
4 |
80764 |
4.9527E-5 |
40382 |
0 |
1.69566E-5 |
20-33511235-G-GCTGCCAGCGGGACCAGGATGGCTATTACTGGATCACTGGCAGGATTGA
|
c.1696+1_1696+2insCTGCCAGCGGGACCAGGATGGCTATTACTGGATCACTGGCAGGATTGA |
splice_donor |
ACSS2 |
2 |
80658 |
2.47961E-5 |
40329 |
1 |
NA |
20-33511237-G-A
|
c.1696+3G>A |
splice_region |
ACSS2 |
1 |
80644 |
1.24002E-5 |
40322 |
0 |
NA |
20-33511241-C-G
|
c.1696+7C>G |
splice_region |
ACSS2 |
1 |
80576 |
1.24106E-5 |
40288 |
0 |
NA |
20-33513507-A-G
|
p.Gln568Arg |
missense |
ACSS2 |
1 |
80760 |
1.23824E-5 |
40380 |
0 |
NA |
20-33513510-G-A
|
p.Arg569Gln |
missense |
ACSS2 |
1 |
80772 |
1.23805E-5 |
40386 |
0 |
1.92526E-5 |
20-33513514-C-T
|
p.Thr166Ile |
missense |
ACSS2 |
1 |
80792 |
1.23775E-5 |
40396 |
0 |
NA |
20-33513537-C-T
|
p.Thr578Ile |
missense |
ACSS2 |
6 |
80826 |
7.42335E-5 |
40413 |
0 |
6.37064E-5 |
20-33513546-T-C
|
p.Ile581Thr |
missense |
ACSS2 |
1 |
80752 |
1.23836E-5 |
40376 |
0 |
2.81801E-5 |
20-33513553-C-T
|
p.Thr179Ile |
missense |
ACSS2 |
1 |
80742 |
1.23851E-5 |
40371 |
0 |
6.37146E-5 |
20-33513554-A-T
|
p.Met584Leu |
missense |
ACSS2 |
3 |
80742 |
3.71554E-5 |
40371 |
0 |
9.49668E-6 |
20-33513559-CAATGT-C
|
p.Asn586fs |
frameshift |
ACSS2 |
1 |
80710 |
1.239E-5 |
40355 |
0 |
NA |
20-33513566-T-TC
|
p.Gly589fs |
frameshift |
ACSS2 |
1 |
80674 |
1.23956E-5 |
40337 |
0 |
NA |
20-33513570-G-GACACCTGC
|
c.1765+1_1765+2insACACCTGC |
splice_donor |
ACSS2 |
2 |
80632 |
2.4804E-5 |
40316 |
0 |
NA |
20-33513570-G-GACACCTGCTGAGTACAGCAGAGGTGGAGTCAGCACTTGTGGAACA
|
c.1765+1_1765+2insACACCTGCTGAGTACAGCAGAGGTGGAGTCAGCACTTGTGGAACA |
splice_donor |
ACSS2 |
2 |
80630 |
2.48047E-5 |
40315 |
1 |
NA |
20-33513572-G-A
|
c.1765+3G>A |
splice_region |
ACSS2 |
3 |
80596 |
3.72227E-5 |
40298 |
0 |
1.01634E-5 |
20-33513572-G-T
|
c.1765+3G>T |
splice_region |
ACSS2 |
2 |
80594 |
2.48157E-5 |
40297 |
0 |
3.18776E-5 |
20-33513904-C-A
|
c.1766-4C>A |
splice_region |
ACSS2 |
1 |
80796 |
1.23769E-5 |
40398 |
0 |
1.19414E-5 |
20-33513920-G-A
|
p.Ser593Asn |
missense |
ACSS2 |
1 |
80872 |
1.23652E-5 |
40436 |
0 |
8.23927E-6 |
20-33513927-A-G
|
p.Ala595Ala |
synonymous |
ACSS2 |
1 |
80864 |
1.23664E-5 |
40432 |
0 |
NA |
20-33513936-G-A
|
p.Glu598Glu |
synonymous |
ACSS2 |
1 |
80874 |
1.23649E-5 |
40437 |
0 |
NA |
20-33513939-A-G
|
p.Ser599Ser |
synonymous |
ACSS2 |
17 |
80870 |
2.10214E-4 |
40435 |
0 |
0.00100705 |
20-33513943-C-T
|
p.Leu601Phe |
missense |
ACSS2 |
1 |
80872 |
1.23652E-5 |
40436 |
0 |
3.97798E-6 |
20-33513955-G-A
|
p.Glu605Lys |
missense |
ACSS2 |
1 |
80864 |
1.23664E-5 |
40432 |
0 |
3.97807E-6 |
20-33513957-G-A
|
p.Glu605Glu |
synonymous |
ACSS2 |
2 |
80842 |
2.47396E-5 |
40421 |
0 |
3.18471E-5 |
20-33513961-G-A
|
p.Val607Ile |
missense |
ACSS2 |
4 |
80832 |
4.94854E-5 |
40416 |
0 |
2.47133E-5 |
20-33513965-C-G
|
p.Ala608Gly |
missense |
ACSS2 |
5 |
80804 |
6.18781E-5 |
40402 |
0 |
3.29527E-5 |
20-33513965-C-CA
|
p.Glu609fs |
frameshift |
ACSS2 |
1 |
80804 |
1.23756E-5 |
40402 |
0 |
NA |
20-33513983-G-C
|
p.Gly614Ala |
missense |
ACSS2 |
1347 |
80622 |
0.0167076 |
40311 |
61 |
0.0340047 |
20-33514001-A-G
|
p.Lys620Arg |
missense |
ACSS2 |
2 |
80502 |
2.48441E-5 |
40251 |
0 |
NA |
20-33514004-G-T
|
p.Gly621Val |
missense |
ACSS2 |
3 |
80446 |
3.72921E-5 |
40223 |
0 |
3.18492E-5 |
20-33514030-T-C
|
p.Leu630Leu |
synonymous |
ACSS2 |
3 |
79660 |
3.76601E-5 |
39830 |
0 |
6.37471E-5 |
20-33514055-C-G
|
p.Pro638Arg |
missense |
ACSS2 |
1 |
77910 |
1.28353E-5 |
38955 |
0 |
6.37349E-5 |
20-33514065-C-T
|
p.Thr641Thr |
synonymous |
ACSS2 |
28 |
76762 |
3.64764E-4 |
38381 |
0 |
6.05327E-4 |
20-33514065-CGAG-C
|
p.Glu643del |
conservative_inframe_deletion |
ACSS2 |
8 |
76764 |
1.04216E-4 |
38382 |
0 |
0.00201613 |
20-33514681-TAGAGA-T
|
p.Arg649fs |
frameshift |
ACSS2 |
1 |
81064 |
1.23359E-5 |
40532 |
0 |
NA |
20-33514692-T-C
|
p.Ile652Thr |
missense |
ACSS2 |
1 |
81082 |
1.23332E-5 |
40541 |
0 |
7.9533E-6 |
20-33514695-G-GC
|
p.Ile655fs |
frameshift |
ACSS2 |
1 |
81086 |
1.23326E-5 |
40543 |
0 |
NA |
20-33514748-C-T
|
p.Arg671Cys |
missense |
ACSS2 |
3 |
81070 |
3.70051E-5 |
40535 |
0 |
2.38618E-5 |
20-33514749-G-A
|
p.Arg671His |
missense |
ACSS2 |
16 |
81068 |
1.97365E-4 |
40534 |
0 |
2.86661E-4 |
20-33514751-TCAGGTATGTTCAGAGGCCTCCATGGATTGGGATGGGCTGAGGCCTGGTGGTGGTGGGGTGTGCGTGGATGAAAGCCTTTGGCAGGGCTAGGGTGGGTCAGTGCTTTCACCAAGTAACTAGAGGTCTGTGGTTCCC-T
|
p.Ser672_Gly673delinsTrp |
splice_donor |
ACSS2 |
6 |
81072 |
7.40083E-5 |
40536 |
0 |
NA |
20-33514755-G-T
|
c.2017+1G>T |
splice_donor |
ACSS2 |
1 |
81074 |
1.23344E-5 |
40537 |
0 |
NA |
20-33514882-T-C
|
c.2018-8T>C |
splice_region |
ACSS2 |
3 |
81034 |
3.70215E-5 |
40517 |
0 |
3.19061E-5 |
20-33514890-G-T
|
p.Gly673Val |
missense+splice_region |
ACSS2 |
1 |
81052 |
1.23378E-5 |
40526 |
0 |
8.23683E-6 |
20-33514900-G-A
|
p.Met676Ile |
missense |
ACSS2 |
1 |
81064 |
1.23359E-5 |
40532 |
0 |
8.23655E-6 |
20-33514905-G-A
|
p.Arg678Gln |
missense |
ACSS2 |
5 |
81060 |
6.16827E-5 |
40530 |
0 |
9.56511E-5 |
20-33514913-C-T
|
p.Arg681Trp |
missense |
ACSS2 |
2 |
81058 |
2.46737E-5 |
40529 |
0 |
9.56572E-5 |
20-33514914-G-A
|
p.Arg681Gln |
missense |
ACSS2 |
2 |
81062 |
2.46725E-5 |
40531 |
0 |
2.47093E-5 |
20-33514919-A-T
|
p.Ile683Phe |
missense |
ACSS2 |
1 |
81060 |
1.23365E-5 |
40530 |
0 |
1.19296E-5 |
20-33514941-T-G
|
p.Leu690Arg |
missense |
ACSS2 |
1 |
81056 |
1.23371E-5 |
40528 |
0 |
NA |
20-33514942-C-T
|
p.Leu690Leu |
synonymous |
ACSS2 |
1 |
81062 |
1.23362E-5 |
40531 |
0 |
1.19289E-5 |
20-33514943-G-A
|
p.Gly691Arg |
missense |
ACSS2 |
2 |
81058 |
2.46737E-5 |
40529 |
0 |
6.37755E-5 |
20-33514945-G-T
|
p.Gly691Gly |
synonymous |
ACSS2 |
1 |
81054 |
1.23375E-5 |
40527 |
0 |
NA |
20-33514977-T-C
|
p.Ile702Thr |
missense |
ACSS2 |
2 |
81004 |
2.46901E-5 |
40502 |
0 |
8.23723E-6 |
20-33514984-C-T
|
p.His704His |
synonymous |
ACSS2 |
19 |
80988 |
2.34603E-4 |
40494 |
0 |
9.56084E-5 |
20-33514997-C-T
|
p.Arg709Cys |
missense |
ACSS2 |
18 |
80956 |
2.22343E-4 |
40478 |
0 |
5.41781E-4 |
20-33514998-G-A
|
p.Arg709His |
missense |
ACSS2 |
1 |
80958 |
1.23521E-5 |
40479 |
0 |
4.11929E-5 |