Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-8429066-C-T c.-140C>T 5_prime_UTR_premature_start_codon_gain ANGPTL4 2017 28724 0.07022 14362 7 0.0491077
19-8429077-C-T c.-129C>T 5_prime_UTR_premature_start_codon_gain ANGPTL4 8 31036 2.57765E-4 15518 0 6.37186E-5
19-8429089-GC-TT c.-116-1_-116delGCinsTT splice_acceptor ANGPTL4 2 32838 6.0905E-5 16419 0 NA
19-8429089-G-T c.-116-1G>T splice_acceptor ANGPTL4 1 32838 3.04525E-5 16419 0 3.18634E-5
19-8429090-C-T c.-116C>T splice_region ANGPTL4 1 32902 3.03933E-5 16451 0 3.18593E-5
19-8429092-G-A c.-114G>A splice_region ANGPTL4 306 33122 0.00923857 16561 1 0.0244408
19-8429128-C-T c.-78C>T 5_prime_UTR_premature_start_codon_gain ANGPTL4 1 35234 2.83817E-5 17617 0 NA
19-8429207-T-C p.Met1? start_lost ANGPTL4 2 40696 4.91449E-5 20348 0 3.18552E-5
19-8429211-C-T p.Ser2Ser synonymous ANGPTL4 1 40928 2.44332E-5 20464 0 0.003125
19-8429212-G-A p.Gly3Ser missense ANGPTL4 1 41098 2.43321E-5 20549 0 6.91525E-6
19-8429218-C-T p.Pro5Ser missense ANGPTL4 2 41414 4.82928E-5 20707 0 8.06972E-5
19-8429219-C-T p.Pro5Leu missense ANGPTL4 1 41456 2.4122E-5 20728 0 2.86752E-4
19-8429220-G-C p.Pro5Pro synonymous ANGPTL4 5 41538 1.20372E-4 20769 0 2.41196E-4
19-8429220-G-A p.Pro5Pro synonymous ANGPTL4 1 41538 2.40743E-5 20769 0 NA
19-8429229-G-A p.Gly8Gly synonymous ANGPTL4 2 41894 4.77395E-5 20947 0 NA
19-8429246-G-A p.Cys14Tyr missense ANGPTL4 2 42398 4.7172E-5 21199 0 0.00125
19-8429251-G-A p.Ala16Thr missense ANGPTL4 2 42684 4.6856E-5 21342 0 0.00155119
19-8429260-G-A p.Val19Met missense ANGPTL4 2 43338 4.61489E-5 21669 0 NA
19-8429272-G-A p.Ala23Thr missense ANGPTL4 2 43850 4.561E-5 21925 0 7.91891E-5
19-8429282-G-T p.Gly26Val missense ANGPTL4 1 44356 2.25449E-5 22178 0 NA
19-8429285-C-G p.Pro27Arg missense ANGPTL4 2 44492 4.49519E-5 22246 0 2.11957E-5
19-8429286-C-G p.Pro27Pro synonymous ANGPTL4 2 44662 4.47808E-5 22331 0 7.81739E-5
19-8429323-G-A p.Glu40Lys missense ANGPTL4 698 47898 0.0145726 23949 8 0.0186796
19-8429325-G-A p.Glu40Glu synonymous ANGPTL4 5 48184 1.03769E-4 24092 0 9.55414E-5
19-8429328-G-C p.Met41Ile missense ANGPTL4 102 48604 0.00209859 24302 2 0.00605037
19-8429349-C-T p.Leu48Leu synonymous ANGPTL4 1 51120 1.95618E-5 25560 0 1.34608E-4
19-8429361-C-A p.Gly52Gly synonymous ANGPTL4 3 52300 5.73614E-5 26150 0 0.00257998
19-8429365-G-C p.Gly54Arg missense ANGPTL4 3 53184 5.64079E-5 26592 0 3.1839E-5
19-8429367-G-A p.Gly54Gly synonymous ANGPTL4 2 53476 3.74E-5 26738 0 3.1837E-5
19-8429382-G-A p.Ala59Ala synonymous ANGPTL4 1 55656 1.79675E-5 27828 0 6.27006E-6
19-8429383-G-A p.Glu60Lys missense ANGPTL4 1 55850 1.79051E-5 27925 0 6.31002E-6
19-8429385-G-A p.Glu60Glu synonymous ANGPTL4 1 55966 1.7868E-5 27983 0 NA
19-8429386-C-G p.Arg61Gly missense ANGPTL4 5 55742 8.9699E-5 27871 0 NA
19-8429390-C-T p.Thr62Ile missense ANGPTL4 2 56874 3.51655E-5 28437 0 NA
19-8429391-C-T p.Thr62Thr synonymous ANGPTL4 15 56964 2.63324E-4 28482 0 0.00178308
19-8429392-C-T p.Arg63Cys missense ANGPTL4 2 57200 3.4965E-5 28600 0 NA
19-8429392-C-G p.Arg63Gly missense ANGPTL4 1 57200 1.74825E-5 28600 0 NA
19-8429393-G-A p.Arg63His missense ANGPTL4 1 57190 1.74856E-5 28595 0 NA
19-8429406-C-G p.Ser67Arg missense ANGPTL4 6 59294 1.01191E-4 29647 0 0.00255132
19-8429414-A-G p.Glu70Gly missense ANGPTL4 4 60644 6.59587E-5 30322 0 5.3103E-5
19-8429416-C-T p.Arg71Trp missense ANGPTL4 1 60748 1.64614E-5 30374 0 1.61708E-4
19-8429417-G-A p.Arg71Gln missense ANGPTL4 1 60888 1.64236E-5 30444 0 NA
19-8429420-G-T p.Arg72Leu missense ANGPTL4 3 61286 4.89508E-5 30643 0 0.00205761
19-8429424-G-A p.Leu73Leu synonymous ANGPTL4 7 62122 1.12681E-4 31061 0 0.00125313
19-8429429-C-T p.Ala75Val missense ANGPTL4 1 62370 1.60333E-5 31185 0 NA
19-8429430-G-C c.-207G>C 5_prime_UTR_premature_start_codon_gain ANGPTL4 1 62654 1.59607E-5 31327 0 2.86588E-4
19-8429434-G-C p.Gly77Arg missense+splice_region ANGPTL4 1 63148 1.58358E-5 31574 0 2.75179E-4
19-8429436-G-C c.-202+1G>C splice_donor ANGPTL4 1 63606 1.57218E-5 31803 0 NA
19-8429436-G-A c.-202+1G>A splice_donor ANGPTL4 1 63606 1.57218E-5 31803 0 NA
19-8429440-GC-G p.Cys80fs frameshift ANGPTL4 3 64032 4.68516E-5 32016 0 0.00105116
19-8429443-T-A p.Cys80Ser missense ANGPTL4 1 64636 1.54713E-5 32318 0 NA
19-8429449-G-A p.Gly82Arg missense ANGPTL4 1 65276 1.53196E-5 32638 0 5.25895E-6
19-8429455-G-A p.Glu84Lys missense ANGPTL4 1 65980 1.51561E-5 32990 0 NA
19-8429458-G-A p.Gly85Arg missense ANGPTL4 1 66328 1.50766E-5 33164 0 NA
19-8429462-C-T p.Ser86Phe missense ANGPTL4 1 66974 1.49312E-5 33487 0 NA
19-8429468-A-T p.Asp88Val missense ANGPTL4 1 67434 1.48293E-5 33717 0 3.39812E-5
19-8429483-C-T p.Pro93Leu missense ANGPTL4 1 68886 1.45167E-5 34443 0 0.00203459
19-8429490-C-T p.Ser95Ser synonymous ANGPTL4 2 68410 2.92355E-5 34205 0 3.04155E-5
19-8429492-G-C p.Arg96Pro missense+splice_region ANGPTL4 8 68278 1.17168E-4 34139 0 6.07829E-5
19-8429494-G-C p.Val97Leu missense ANGPTL4 9 68054 1.32248E-4 34027 0 0.00101729
19-8429501-C-T p.Pro99Leu missense ANGPTL4 1 67086 1.49062E-5 33543 0 8.99173E-5
19-8429506-G-A p.Val101Ile missense ANGPTL4 1 66560 1.5024E-5 33280 0 5.09684E-4
19-8429509-C-G p.Leu102Val missense ANGPTL4 1 66334 1.50752E-5 33167 0 NA
19-8429528-G-A c.318+5G>A splice_region ANGPTL4 1 63036 1.5864E-5 31518 0 1.04923E-5
19-8430834-C-G c.319-4C>G splice_region ANGPTL4 1 83042 1.20421E-5 41521 0 NA
19-8430843-A-C p.Gln108His missense ANGPTL4 1 83122 1.20305E-5 41561 0 6.3743E-5
19-8430855-G-A p.Arg89Lys missense ANGPTL4 1 83180 1.20221E-5 41590 0 8.29999E-6
19-8430863-G-A p.Arg115Lys missense ANGPTL4 3 83206 3.60551E-5 41603 0 3.18613E-5
19-8430870-G-C p.Gln117His missense ANGPTL4 1 83230 1.20149E-5 41615 0 3.18573E-5
19-8430886-G-A p.Val123Met missense ANGPTL4 43 83246 5.16541E-4 41623 1 0.00198476
19-8430899-A-T p.Gln127Leu missense ANGPTL4 1 83258 1.20109E-5 41629 0 NA
19-8430902-G-A p.Arg128Gln missense ANGPTL4 1 83262 1.20103E-5 41631 0 1.1933E-5
19-8430917-A-G p.Gln133Arg missense ANGPTL4 11 83274 1.32094E-4 41637 0 5.03525E-4
19-8430921-C-T p.Thr111Ile missense ANGPTL4 2 83278 2.40159E-5 41639 0 8.24946E-6
19-8430925-C-T p.Arg136* stop_gained ANGPTL4 3 83280 3.60231E-5 41640 0 3.97779E-6
19-8430926-G-A p.Arg136Gln missense ANGPTL4 2 83280 2.40154E-5 41640 0 6.3743E-5
19-8430934-C-T p.His139Tyr missense ANGPTL4 4 83272 4.80354E-5 41636 1 8.24878E-6
19-8430955-C-G c.429+7C>G splice_region ANGPTL4 1 83220 1.20163E-5 41610 0 NA
19-8431080-TC-T c.430-5delC splice_region ANGPTL4 414 83156 0.00497859 41578 3 0.0115404
19-8431085-G-A c.430-1G>A splice_acceptor ANGPTL4 2 83164 2.40489E-5 41582 0 NA
19-8431090-G-A p.Gly145Asp missense ANGPTL4 1 83150 1.20265E-5 41575 0 8.24579E-6
19-8431095-C-G p.Leu147Val missense ANGPTL4 1 83180 1.20221E-5 41590 0 3.18274E-5
19-8431124-G-A p.Val156Val synonymous ANGPTL4 1 83170 1.20236E-5 41585 0 8.24946E-6
19-8431125-G-C p.Ala157Pro missense ANGPTL4 3 83154 3.60776E-5 41577 0 NA
19-8431130-GC-G p.Pro159fs frameshift ANGPTL4 1 83146 1.2027E-5 41573 0 NA
19-8431134-G-A p.Ala160Thr missense ANGPTL4 1 83140 1.20279E-5 41570 0 7.95722E-6
19-8431134-GCCC-G p.Ala160_Arg161delinsGly disruptive_inframe_deletion ANGPTL4 1 83140 1.20279E-5 41570 0 NA
19-8431137-C-T p.Arg161* stop_gained ANGPTL4 1 83118 1.20311E-5 41559 0 0.00125
19-8431138-GAAGAAAGAGGCT-G p.Arg162_Leu165del disruptive_inframe_deletion ANGPTL4 1 83122 1.20305E-5 41561 0 NA
19-8431153-C-T p.Pro166Leu missense ANGPTL4 3 83080 3.61098E-5 41540 0 6.60742E-5
19-8431154-C-T c.-4C>T 5_prime_UTR_premature_start_codon_gain ANGPTL4 1 83038 1.20427E-5 41519 0 NA
19-8431155-G-A p.Glu167Lys missense ANGPTL4 26 83052 3.13057E-4 41526 0 2.0695E-4
19-8431176-C-T p.Pro174Ser missense ANGPTL4 1 82882 1.20653E-5 41441 0 6.37308E-5
19-8431177-C-T p.Pro174Leu missense ANGPTL4 16 82848 1.93125E-4 41424 0 0.01
19-8431178-G-A p.Pro174Pro synonymous ANGPTL4 2 82826 2.4147E-5 41413 1 4.1414E-5
19-8431182-C-T p.His176Tyr missense ANGPTL4 1 82770 1.20817E-5 41385 0 2.48715E-5
19-8431185-A-C p.Asn177His missense ANGPTL4 1 82724 1.20884E-5 41362 0 NA
19-8431186-A-T p.Asn177Ile missense ANGPTL4 1 82708 1.20907E-5 41354 0 NA
19-8431194-C-T p.Arg180Cys missense ANGPTL4 9 82554 1.0902E-4 41277 0 1.27453E-4
19-8431200-C-T p.His182Tyr missense ANGPTL4 2 82414 2.42677E-5 41207 0 8.32196E-6
19-8431203-C-T p.Arg183Trp missense+splice_region ANGPTL4 3 82324 3.64414E-5 41162 0 1.83297E-4
19-8431203-CGTGA-C c.547+1_547+4delGTGA splice_donor ANGPTL4 1 82324 1.21471E-5 41162 0 3.59839E-5
19-8431204-G-A c.547+1G>A splice_donor ANGPTL4 6 82312 7.28934E-5 41156 0 6.3743E-5
19-8431208-G-A c.547+5G>A splice_region ANGPTL4 5 82216 6.08154E-5 41108 0 8.34836E-6
19-8434097-C-T c.548-6C>T splice_region ANGPTL4 50 81798 6.11262E-4 40899 1 6.6896E-4
19-8434100-C-T c.548-3C>T splice_region ANGPTL4 405 81838 0.0049488 40919 3 0.0114715
19-8434103-G-A p.Arg183Gln missense+splice_region ANGPTL4 1 81982 1.21978E-5 40991 0 NA
19-8434103-G-T p.Arg183Leu missense+splice_region ANGPTL4 1 81982 1.21978E-5 40991 0 NA
19-8434107-G-T p.Leu184Leu synonymous ANGPTL4 1 82078 1.21835E-5 41039 0 1.02026E-5
19-8434116-T-C p.Asp187Asp synonymous ANGPTL4 3 82320 3.64431E-5 41160 0 NA
19-8434119-C-T p.Cys188Cys synonymous ANGPTL4 1 82362 1.21415E-5 41181 0 NA
19-8434123-G-C p.Glu190Gln missense ANGPTL4 534 82444 0.00647712 41222 3 0.0216516
19-8434134-G-A p.Gln193Gln synonymous ANGPTL4 1 82652 1.20989E-5 41326 0 3.18532E-5
19-8434135-G-C p.Val194Leu missense ANGPTL4 7 82658 8.46863E-5 41329 0 3.18613E-5
19-8434143-G-T p.Glu196Asp missense ANGPTL4 1 82756 1.20837E-5 41378 0 8.07037E-6
19-8434147-C-G p.Gln198Glu missense ANGPTL4 1 82786 1.20793E-5 41393 0 4.03424E-6
19-8434152-T-C p.Ser199Ser synonymous ANGPTL4 2 82778 2.4161E-5 41389 0 NA
19-8434160-T-C p.Phe202Ser missense ANGPTL4 1 82842 1.20712E-5 41421 0 8.98683E-6
19-8434174-C-T p.Gln207* stop_gained ANGPTL4 1 82880 1.20656E-5 41440 0 NA
19-8434175-A-T p.Gln207Leu missense ANGPTL4 2 82880 2.41313E-5 41440 0 NA
19-8434184-C-T p.Pro210Leu missense ANGPTL4 1 82858 1.20688E-5 41429 0 8.09278E-6
19-8434185-G-A p.Pro210Pro synonymous ANGPTL4 1138 82808 0.0137426 41404 45 0.0289051
19-8434197-G-A p.Val214Val synonymous ANGPTL4 2 82792 2.41569E-5 41396 0 3.8165E-5
19-8434203-C-T p.Cys216Cys synonymous ANGPTL4 1 82726 1.20881E-5 41363 0 9.695E-6
19-8434209-G-A p.Met218Ile missense ANGPTL4 1 82654 1.20986E-5 41327 0 4.07309E-6
19-8434215-A-AG p.Met218fs frameshift ANGPTL4 1 82560 1.21124E-5 41280 0 NA
19-8435946-G-T p.Gly223Val missense ANGPTL4 1 82094 1.21812E-5 41047 0 2.64788E-5
19-8435951-A-G p.Thr225Ala missense ANGPTL4 2 82164 2.43416E-5 41082 1 2.43427E-5
19-8435966-C-T p.Arg230Cys missense ANGPTL4 1 82264 1.2156E-5 41132 0 3.8906E-5
19-8435967-G-A p.Arg230His missense ANGPTL4 10 82274 1.21545E-4 41137 0 1.31812E-4
19-8435971-C-T p.His231His synonymous ANGPTL4 1 82326 1.21468E-5 41163 0 2.53616E-5
19-8435975-G-A p.Gly233Ser missense ANGPTL4 4 82416 4.85343E-5 41208 0 9.63051E-5
19-8435981-G-A p.Val235Met missense ANGPTL4 2 82436 2.42612E-5 41218 0 NA
19-8435984-G-C p.Asp236His missense ANGPTL4 1 82442 1.21297E-5 41221 0 5.74234E-5
19-8435986-C-A p.Asp236Glu missense ANGPTL4 1 82442 1.21297E-5 41221 0 5.04032E-4
19-8435986-C-G p.Asp236Glu missense ANGPTL4 1 82442 1.21297E-5 41221 0 NA
19-8435987-T-G p.Phe237Val missense ANGPTL4 8 82448 9.70309E-5 41224 0 3.18573E-5
19-8435993-C-A p.Arg239Arg synonymous ANGPTL4 3 82492 3.63672E-5 41246 0 1.3122E-5
19-8435993-C-T p.Arg239Trp missense ANGPTL4 7 82492 8.48567E-5 41246 0 7.87319E-5
19-8435995-G-A p.Arg239Arg synonymous ANGPTL4 2 82490 2.42454E-5 41245 0 3.18492E-5
19-8436006-C-T p.Ala243Val missense ANGPTL4 3 82484 3.63707E-5 41242 0 1.21795E-5
19-8436014-G-A p.Ala246Thr missense ANGPTL4 2 82524 2.42354E-5 41262 0 NA
19-8436015-C-T p.Ala246Val missense ANGPTL4 9 82508 1.0908E-4 41254 0 5.04032E-4
19-8436016-G-A p.Ala246Ala synonymous ANGPTL4 5 82512 6.05972E-5 41256 0 1.61664E-5
19-8436022-T-A p.Phe248Leu missense ANGPTL4 1 82488 1.2123E-5 41244 0 6.37186E-5
19-8436029-C-A p.Pro251Thr missense ANGPTL4 2 82428 2.42636E-5 41214 0 6.37105E-5
19-8436034-C-T p.His252His splice_region+synonymous ANGPTL4 23 82398 2.79133E-4 41199 0 6.25E-4
19-8436035-G-A p.Gly253Ser missense+splice_region ANGPTL4 1 82408 1.21347E-5 41204 0 6.25E-4
19-8436121-C-G c.758-4C>G splice_region ANGPTL4 2 82248 2.43167E-5 41124 0 2.41429E-4
19-8436126-C-T p.Gly253Gly splice_region+synonymous ANGPTL4 1 82184 1.21678E-5 41092 0 5.04032E-4
19-8436127-G-A p.Glu254Lys missense+splice_region ANGPTL4 3 82226 3.64848E-5 41113 0 1.99438E-5
19-8436139-G-C p.Gly258Arg missense ANGPTL4 1 82296 1.21513E-5 41148 0 NA
19-8436144-G-C n.1019G>C splice_region ANGPTL4 1 82306 1.21498E-5 41153 0 NA
19-8436151-G-A p.Val262Met missense ANGPTL4 4 82316 4.85932E-5 41158 0 8.30924E-6
19-8436154-C-G p.His263Asp missense ANGPTL4 1 82322 1.21474E-5 41161 0 3.98695E-6
19-8436158-G-A p.Ser264Asn missense ANGPTL4 1 82304 1.21501E-5 41152 0 3.18593E-5
19-8436164-C-T p.Thr266Met missense ANGPTL4 23176 81388 0.284759 40694 3408 0.304256
19-8436165-G-A p.Thr266Thr synonymous ANGPTL4 5 82290 6.07607E-5 41145 0 4.15711E-5
19-8436172-C-T p.Arg269Cys missense ANGPTL4 3 82200 3.64963E-5 41100 0 3.18796E-5
19-8436181-C-T p.Arg272Cys missense ANGPTL4 4 82250 4.86322E-5 41125 0 2.86807E-4
19-8436182-G-T p.Arg272Leu missense ANGPTL4 3 82182 3.65043E-5 41091 0 3.19155E-5
19-8436182-G-A p.Arg272His missense ANGPTL4 3 82182 3.65043E-5 41091 0 3.32984E-5
19-8436189-C-A p.Ala274Ala synonymous ANGPTL4 1 82240 1.21595E-5 41120 0 NA
19-8436189-C-T p.Ala274Ala synonymous ANGPTL4 4 82240 4.86381E-5 41120 0 6.37349E-5
19-8436190-G-A p.Val275Met missense ANGPTL4 1 82226 1.21616E-5 41113 0 8.32903E-5
19-8436199-C-T p.Arg278Trp missense ANGPTL4 2 82156 2.43439E-5 41078 0 1.16665E-4
19-8436199-C-A p.Arg278Arg synonymous ANGPTL4 2 82156 2.43439E-5 41078 0 7.97696E-6
19-8436200-G-A p.Arg278Gln missense ANGPTL4 720 82146 0.00876488 41073 19 0.0187771
19-8436202-G-A p.Asp279Asn missense ANGPTL4 3 82194 3.6499E-5 41097 0 2.50004E-5
19-8436216-C-T p.Asn283Asn synonymous ANGPTL4 123 82072 0.00149868 41036 0 0.00131886
19-8436219-C-T p.Ala284Ala synonymous ANGPTL4 2 82032 2.43807E-5 41016 0 8.35031E-6
19-8436220-G-A p.Glu285Lys missense ANGPTL4 1 82046 1.21883E-5 41023 0 NA
19-8436233-TCTC-T p.Ser290del conservative_inframe_deletion ANGPTL4 1 82016 1.21927E-5 41008 0 8.36134E-6
19-8436235-T-A p.Ser290Thr missense ANGPTL4 1 81984 1.21975E-5 40992 0 3.99374E-6
19-8436237-C-T p.Ser290Ser synonymous ANGPTL4 1 81958 1.22014E-5 40979 0 1.67361E-5
19-8436238-G-A p.Val291Met missense ANGPTL4 5 81926 6.10307E-5 40963 0 5.03525E-4
19-8436238-G-T p.Val291Leu missense ANGPTL4 1 81926 1.22061E-5 40963 0 2.51164E-5
19-8436252-C-T p.Gly295Gly synonymous ANGPTL4 1 81694 1.22408E-5 40847 0 8.38631E-6
19-8436255-G-C p.Glu296Asp missense ANGPTL4 3 81848 3.66533E-5 40924 0 0.00100705
19-8436259-A-G p.Thr298Ala missense ANGPTL4 2 81800 2.44499E-5 40900 0 3.99962E-6
19-8436260-C-T p.Thr298Met missense ANGPTL4 6 81768 7.33783E-5 40884 0 1.20053E-5
19-8436263-C-A p.Ala299Asp missense ANGPTL4 1 81762 1.22306E-5 40881 0 NA
19-8436286-C-T p.Pro307Ser missense ANGPTL4 4 81572 4.90364E-5 40786 0 5.21343E-5
19-8436288-C-T p.Pro307Pro synonymous ANGPTL4 1296 81466 0.0159085 40733 65 0.0333843
19-8436289-G-A p.Val308Met missense ANGPTL4 44 81506 5.39838E-4 40753 0 6.68875E-4
19-8436300-G-C p.Gln311His missense ANGPTL4 4 81294 4.92041E-5 40647 0 4.01752E-6
19-8436302-TG-T p.Gly313fs frameshift ANGPTL4 23 81260 2.83042E-4 40630 0 0.00100705
19-8436306-C-T p.Gly313Gly synonymous ANGPTL4 3 81100 3.69914E-5 40550 0 1.20629E-5
19-8436316-G-A p.Val317Ile missense ANGPTL4 11 81156 1.35541E-4 40578 0 0.00100705
19-8436327-C-T p.Ser320Ser synonymous ANGPTL4 1 80992 1.23469E-5 40496 0 5.03525E-4
19-8436328-G-A p.Gly321Ser missense ANGPTL4 6 80964 7.4107E-5 40482 0 9.56389E-5
19-8436336-C-T p.Ser323Ser synonymous ANGPTL4 1 80754 1.23833E-5 40377 0 5.03525E-4
19-8436337-G-A p.Val324Ile missense ANGPTL4 9 80578 1.11693E-4 40289 0 1.77873E-4
19-8436341-C-T p.Pro325Leu missense ANGPTL4 1 80552 1.24143E-5 40276 0 NA
19-8436357-C-A p.Asp330Glu missense ANGPTL4 3 79704 3.76393E-5 39852 0 2.0237E-5
19-8436361-G-A p.Asp332Asn missense ANGPTL4 3 79518 3.77273E-5 39759 0 1.21529E-5
19-8436369-C-T p.Asp334Asp synonymous ANGPTL4 3 79080 3.79363E-5 39540 0 4.06379E-6
19-8436373-C-T p.Arg336Cys missense ANGPTL4 210 78986 0.0026587 39493 1 0.001875
19-8436374-G-C p.Arg336Pro missense ANGPTL4 3 78918 3.80141E-5 39459 0 3.25749E-5
19-8436374-G-A p.Arg336His missense ANGPTL4 1 78918 1.26714E-5 39459 0 1.62874E-5
19-8436375-C-T p.Arg336Arg synonymous ANGPTL4 1 78904 1.26736E-5 39452 0 NA
19-8436381-C-A p.Asp338Glu missense ANGPTL4 6 78822 7.61209E-5 39411 0 1.27445E-4
19-8436386-A-G p.Asn340Ser missense ANGPTL4 1 78744 1.26994E-5 39372 0 NA
19-8436389-G-A p.Cys341Tyr missense ANGPTL4 1 78570 1.27275E-5 39285 0 4.09283E-6
19-8436390-C-T p.Cys341Cys synonymous ANGPTL4 3 78558 3.81883E-5 39279 0 4.09484E-6
19-8436391-G-A p.Ala342Thr missense ANGPTL4 6 78480 7.64526E-5 39240 0 1.38272E-4
19-8436393-C-T p.Ala342Ala synonymous ANGPTL4 1 78604 1.2722E-5 39302 0 6.37267E-5
19-8436394-A-G p.Lys343Glu missense ANGPTL4 1 78668 1.27116E-5 39334 0 NA
19-8436404-C-T p.Ser346Phe missense+splice_region ANGPTL4 3 78456 3.8238E-5 39228 0 4.1179E-6
19-8436412-C-T c.1039+6C>T splice_region ANGPTL4 1 78328 1.27668E-5 39164 0 NA
19-8438581-C-G c.1040-8C>G splice_region ANGPTL4 2 82420 2.4266E-5 41210 0 3.99367E-6
19-8438583-C-T c.1040-6C>T splice_region ANGPTL4 1 82442 1.21297E-5 41221 0 3.59546E-5
19-8438583-C-G c.1040-6C>G splice_region ANGPTL4 1 82442 1.21297E-5 41221 0 1.84051E-4
19-8438584-G-A c.1040-5G>A splice_region ANGPTL4 2 82402 2.42713E-5 41201 0 3.99447E-6
19-8438584-G-T c.1040-5G>T splice_region ANGPTL4 1 82404 1.21353E-5 41202 0 NA
19-8438585-G-T c.1040-4G>T splice_region ANGPTL4 1 82430 1.21315E-5 41215 0 NA
19-8438599-G-A p.Trp350* stop_gained ANGPTL4 9 82738 1.08777E-4 41369 0 4.38457E-5
19-8438607-C-T p.Thr353Ile missense ANGPTL4 2 82806 2.41528E-5 41403 0 NA
19-8438628-A-ACGGC p.Gln362fs frameshift ANGPTL4 2 83052 2.40813E-5 41526 0 3.58289E-5
19-8438629-C-T p.Asn360Asn synonymous ANGPTL4 960 83068 0.0115568 41534 45 0.0235999
19-8438630-G-C p.Gly361Arg missense ANGPTL4 2 83078 2.40738E-5 41539 0 5.1738E-5
19-8438638-C-G p.Tyr363* stop_gained ANGPTL4 1 83154 1.20259E-5 41577 0 3.18756E-5
19-8438642-C-T p.Arg365Cys missense ANGPTL4 2 83156 2.40512E-5 41578 0 2.48534E-5
19-8438643-G-A p.Arg365His missense ANGPTL4 9 83160 1.08225E-4 41580 0 6.25E-4
19-8438649-T-A p.Ile367Asn missense ANGPTL4 1 83182 1.20218E-5 41591 0 3.18979E-5
19-8438654-C-T p.Gln369* stop_gained ANGPTL4 1 83198 1.20195E-5 41599 0 8.27582E-6
19-8438664-A-G p.Gln372Arg missense ANGPTL4 11 83206 1.32202E-4 41603 0 1.73689E-4
19-8438680-A-G p.Gly377Gly synonymous ANGPTL4 2 83236 2.40281E-5 41618 0 6.37755E-5
19-8438687-T-C p.Trp380Arg missense ANGPTL4 2 83228 2.40304E-5 41614 0 3.18634E-5
19-8438692-G-T p.Lys381Asn missense ANGPTL4 1 83222 1.20161E-5 41611 0 8.27568E-6
19-8438697-G-A p.Trp383* stop_gained ANGPTL4 1 83204 1.20187E-5 41602 0 8.27965E-6
19-8438699-C-T p.Arg384Trp missense ANGPTL4 2 83182 2.40437E-5 41591 0 4.14079E-5
19-8438700-G-A p.Arg384Gln missense ANGPTL4 1 83182 1.20218E-5 41591 0 3.18756E-5
19-8438705-C-T p.Arg386Cys missense ANGPTL4 1 83142 1.20276E-5 41571 0 8.29352E-6
19-8438705-C-G p.Arg386Gly missense ANGPTL4 1 83142 1.20276E-5 41571 0 NA
19-8438706-G-A p.Arg386His missense ANGPTL4 1 83110 1.20322E-5 41555 0 6.37552E-5
19-8438710-C-G p.Tyr387* stop_gained ANGPTL4 1 83128 1.20296E-5 41564 0 1.99084E-5
19-8438712-A-G p.Tyr388Cys missense ANGPTL4 3 83096 3.61028E-5 41548 0 1.59275E-5
19-8438715-C-T p.Pro389Leu missense ANGPTL4 3 83114 3.6095E-5 41557 0 3.18573E-5
19-8438716-G-A p.Pro389Pro synonymous ANGPTL4 9470 82950 0.114165 41475 639 0.136875
19-8438730-CCAT-C p.Met395del disruptive_inframe_deletion ANGPTL4 1 83096 1.20343E-5 41548 0 NA
19-8438740-C-A p.Ile397Ile synonymous ANGPTL4 1 83076 1.20372E-5 41538 0 NA
19-8438750-GC-AG p.Ala401Arg missense ANGPTL4 1 83028 1.20441E-5 41514 0 NA
19-8438762-G-GC p.Ser406fs frameshift ANGPTL4 18 82910 2.17103E-4 41455 0 9.97518E-5
19-8438835-TGGCCGTTCCCTGCCTG-T c.*69_*69+15delCGTTCCCTGCCTGGGC splice_donor ANGPTL4 6 79762 7.52238E-5 39881 0 3.18715E-5
19-8438840-G-A c.*69+1G>A splice_donor ANGPTL4 10 79296 1.2611E-4 39648 0 7.12758E-4
19-8438845-C-G c.*69+6C>G splice_region ANGPTL4 1 79120 1.2639E-5 39560 0 3.18593E-5
19-8439087-A-G p.Asn121Ser missense ANGPTL4 1 43196 2.31503E-5 21598 0 NA
19-8439092-G-A p.Gly123Arg missense ANGPTL4 1 41968 2.38277E-5 20984 0 1.81153E-5
19-8439103-C-T p.His126His synonymous ANGPTL4 262 40462 0.00647521 20231 11 0.0192024
19-8439104-A-G p.Ile127Val missense ANGPTL4 2 40338 4.9581E-5 20169 0 1.85722E-5
19-8439110-T-C p.Ter129Argext*? stop_lost ANGPTL4 1 39172 2.55284E-5 19586 0 NA