Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-147582160-C-T c.-458C>T 5_prime_UTR_premature_start_codon_gain AFF2 1 3204 3.1211E-4 1602 0 NA
X-147582527-C-T c.-91C>T 5_prime_UTR_premature_start_codon_gain AFF2 1 70590 1.41663E-5 35295 0 NA
X-147582597-C-T c.-21C>T 5_prime_UTR_premature_start_codon_gain AFF2 1 77286 1.2939E-5 38643 0 NA
X-147582609-C-A c.-9C>A 5_prime_UTR_premature_start_codon_gain AFF2 2 78032 2.56305E-5 39016 1 NA
X-147582626-A-G p.Leu3Leu synonymous AFF2 2 78706 2.5411E-5 39353 1 NA
X-147582638-C-T p.Phe7Phe synonymous AFF2 1 78912 1.26723E-5 39456 0 NA
X-147733515-A-G c.48-5A>G splice_region AFF2 3 80852 3.71048E-5 40426 0 9.21999E-5
X-147733536-C-T p.Arg22Cys missense AFF2 3 82188 3.65017E-5 41094 1 4.63499E-5
X-147733537-G-A p.Arg22His missense AFF2 2 82250 2.43161E-5 41125 1 1.14625E-5
X-147733566-C-T p.Arg32Trp missense AFF2 13 82660 1.57271E-4 41330 3 4.16243E-4
X-147733567-G-A p.Arg32Gln missense AFF2 2 82656 2.41967E-5 41328 0 4.60745E-5
X-147733568-G-A p.Arg32Arg synonymous AFF2 2 82706 2.4182E-5 41353 1 NA
X-147733577-A-G p.Gln35Gln synonymous AFF2 3 82770 3.6245E-5 41385 0 4.56413E-5
X-147733581-G-GAAAACAAAAAC p.Val37fs frameshift AFF2 1 82748 1.20849E-5 41374 0 NA
X-147733595-C-T p.Asp41Asp synonymous AFF2 4 82722 4.83547E-5 41361 2 1.14021E-5
X-147733596-G-A p.Asp42Asn missense AFF2 2 82728 2.41756E-5 41364 1 2.74373E-5
X-147733650-T-C p.Tyr60His missense+splice_region AFF2 1 82294 1.21516E-5 41147 0 NA
X-147733652-T-C p.Tyr60Tyr splice_region+synonymous AFF2 6 82260 7.29395E-5 41130 1 1.3764E-4
X-147733655-A-T c.180+3A>T splice_region AFF2 3 82124 3.65301E-5 41062 0 NA
X-147733655-A-G c.180+3A>G splice_region AFF2 2 82124 2.43534E-5 41062 1 NA
X-147733656-T-C c.180+4T>C splice_region AFF2 1 82066 1.21853E-5 41033 0 NA
X-147743421-T-C c.169-8T>C splice_region AFF2 3 82228 3.64839E-5 41114 1 1.23822E-5
X-147743432-A-C p.Asn58His missense AFF2 1 82534 1.21162E-5 41267 0 5.95983E-6
X-147743435-A-G p.Lys59Glu missense AFF2 2 82604 2.42119E-5 41302 1 1.22002E-5
X-147743436-A-G p.Lys59Arg missense AFF2 1 82630 1.21021E-5 41315 0 2.43766E-5
X-147743444-G-A p.Ala62Thr missense AFF2 1 82734 1.20869E-5 41367 0 1.20626E-5
X-147743457-G-A p.Arg66Gln missense AFF2 1 82872 1.20668E-5 41436 0 4.60745E-5
X-147743469-C-T p.Thr70Met missense AFF2 1 82938 1.20572E-5 41469 0 2.34167E-5
X-147743470-G-A p.Thr70Thr synonymous AFF2 6 82942 7.23397E-5 41471 1 0.00137741
X-147743478-A-T p.Asn73Ile missense AFF2 1 83010 1.20467E-5 41505 0 NA
X-147743481-A-G p.Tyr74Cys missense AFF2 2 82980 2.41022E-5 41490 0 4.57247E-5
X-147743491-G-T p.Met77Ile missense AFF2 1 83082 1.20363E-5 41541 0 5.46544E-6
X-147743504-A-C p.Thr82Pro missense AFF2 1 83114 1.20317E-5 41557 0 NA
X-147743519-C-G p.Gln87Glu missense AFF2 1 83162 1.20247E-5 41581 0 NA
X-147743528-C-G p.Leu90Val missense AFF2 1 83194 1.20201E-5 41597 0 NA
X-147743542-A-G p.Pro94Pro synonymous AFF2 29 83170 3.48683E-4 41585 9 3.1879E-4
X-147743551-T-C p.Ser97Ser synonymous AFF2 7 83176 8.41589E-5 41588 3 5.01602E-4
X-147743552-G-C p.Val98Leu missense AFF2 2 83178 2.40448E-5 41589 1 NA
X-147743566-C-T p.Pro102Pro synonymous AFF2 1 83184 1.20215E-5 41592 0 NA
X-147743581-A-G p.Glu107Glu synonymous AFF2 2 83198 2.4039E-5 41599 0 4.54918E-5
X-147743594-C-T p.Pro112Ser missense AFF2 2 83182 2.40437E-5 41591 0 NA
X-147743626-C-T p.His122His synonymous AFF2 1 83140 1.20279E-5 41570 0 NA
X-147743630-G-C p.Asp124His missense AFF2 1 83144 1.20273E-5 41572 0 NA
X-147743639-C-T p.His127Tyr missense AFF2 1 83128 1.20296E-5 41564 0 NA
X-147743641-T-C p.His127His synonymous AFF2 1 83092 1.20349E-5 41546 0 5.45313E-6
X-147743641-T-A p.His127Gln missense AFF2 1 83092 1.20349E-5 41546 0 9.14453E-5
X-147743655-T-C p.Met132Thr missense AFF2 3 83050 3.61228E-5 41525 0 9.15039E-5
X-147743660-C-G p.Pro134Ala missense AFF2 8 83028 9.6353E-5 41514 2 3.4195E-5
X-147743671-T-C p.Val137Val synonymous AFF2 5 82938 6.0286E-5 41469 2 1.1398E-5
X-147743678-C-T p.Leu140Leu synonymous AFF2 1 82884 1.20651E-5 41442 0 2.2798E-5
X-147743684-T-A p.Ser142Thr missense AFF2 2 82830 2.41458E-5 41415 1 NA
X-147743691-T-G p.Leu144Arg missense AFF2 1 82786 1.20793E-5 41393 0 NA
X-147743693-A-G p.Ile145Val missense AFF2 1 82768 1.2082E-5 41384 0 5.45238E-6
X-147743729-C-A p.Arg157Ser missense AFF2 4 82482 4.84954E-5 41241 1 2.18122E-5
X-147743729-C-T p.Arg157Cys missense AFF2 3 82482 3.63716E-5 41241 1 NA
X-147743740-T-C p.His160His synonymous AFF2 2 82520 2.42365E-5 41260 1 2.72633E-5
X-147743741-A-G p.Asn161Asp missense AFF2 13 82530 1.57518E-4 41265 5 3.66133E-4
X-147743744-C-T p.Pro162Ser missense AFF2 79 82566 9.5681E-4 41283 18 8.88806E-4
X-147743748-G-A p.Ser163Asn missense AFF2 2 82562 2.42242E-5 41281 0 NA
X-147743759-G-A p.Ala167Thr missense AFF2 2 82592 2.42154E-5 41296 0 4.59116E-5
X-147743763-G-A p.Ser168Asn missense AFF2 2 82664 2.41943E-5 41332 1 NA
X-147743789-A-G p.Met177Val missense AFF2 2 82886 2.41295E-5 41443 1 4.57122E-5
X-147743809-C-A p.Asp183Glu missense AFF2 6 82944 7.2338E-5 41472 2 1.37306E-4
X-147743814-C-T p.Ser185Phe missense AFF2 13 82974 1.56676E-4 41487 5 2.18054E-5
X-147743819-G-A p.Ala187Thr missense AFF2 6 83016 7.22752E-5 41508 2 NA
X-147743833-C-G p.Asp191Glu missense AFF2 5 83058 6.01989E-5 41529 2 NA
X-147743854-A-G p.Glu198Glu synonymous AFF2 2 83092 2.40697E-5 41546 1 NA
X-147743861-C-A p.Gln201Lys missense AFF2 3 83120 3.60924E-5 41560 1 1.13956E-5
X-147743873-G-T p.Val205Phe missense AFF2 3 83124 3.60907E-5 41562 1 NA
X-147743873-G-A p.Val205Ile missense AFF2 2 83124 2.40604E-5 41562 1 NA
X-147743882-T-G p.Ser208Ala missense AFF2 1 83110 1.20322E-5 41555 0 1.13963E-5
X-147743889-C-A p.Pro210Gln missense AFF2 1 83102 1.20334E-5 41551 0 NA
X-147743931-A-G p.Asp224Gly missense AFF2 2 83040 2.40848E-5 41520 1 1.13965E-5
X-147743933-G-C p.Ala225Pro missense AFF2 1 83016 1.20459E-5 41508 0 NA
X-147743953-A-G p.Gln231Gln synonymous AFF2 2 83110 2.40645E-5 41555 1 0.00125
X-147743957-A-G p.Asn233Asp missense AFF2 1 83120 1.20308E-5 41560 0 NA
X-147743965-G-A p.Pro235Pro synonymous AFF2 3 83126 3.60898E-5 41563 1 4.36255E-5
X-147743967-A-G p.Glu236Gly missense AFF2 2 83132 2.40581E-5 41566 0 NA
X-147743975-G-C p.Glu239Gln missense AFF2 1 83154 1.20259E-5 41577 0 1.13978E-5
X-147743980-C-T p.Phe240Phe synonymous AFF2 2 83140 2.40558E-5 41570 0 6.83893E-5
X-147743981-G-A p.Ala241Thr missense AFF2 3 83138 3.60846E-5 41569 1 4.55918E-5
X-147743983-C-T p.Ala241Ala synonymous AFF2 2 83142 2.40552E-5 41571 0 3.27232E-5
X-147743984-G-A p.Val242Met missense AFF2 15 83148 1.80401E-4 41574 2 0.00125156
X-147743991-C-T p.Ala244Val missense AFF2 4 83162 4.80989E-5 41581 2 7.97912E-5
X-147743992-G-A p.Ala244Ala synonymous AFF2 7 83160 8.41751E-5 41580 1 1.4178E-4
X-147744004-C-G p.Pro248Pro synonymous AFF2 1 83180 1.20221E-5 41590 0 5.45185E-6
X-147744055-C-A p.Asn265Lys missense AFF2 2 83108 2.40651E-5 41554 1 1.14004E-5
X-147744112-C-T p.Tyr284Tyr synonymous AFF2 10 83054 1.20404E-4 41527 3 6.88231E-4
X-147744140-G-T p.Ala294Ser missense AFF2 1 82880 1.20656E-5 41440 0 2.28035E-5
X-147744144-C-T p.Pro295Leu missense AFF2 1 82890 1.20642E-5 41445 0 9.18611E-5
X-147744145-G-A p.Pro295Pro synonymous AFF2 31 82902 3.73936E-4 41451 9 4.59453E-5
X-147744146-G-A p.Asp296Asn missense AFF2 3 82902 3.61873E-5 41451 1 1.09118E-5
X-147744179-T-G p.Phe307Val missense AFF2 2 82764 2.41651E-5 41382 1 NA
X-147744184-G-A p.Glu308Glu synonymous AFF2 6 82702 7.25496E-5 41351 3 3.43175E-5
X-147744203-T-C p.Ser315Pro missense AFF2 1 82294 1.21516E-5 41147 0 NA
X-147744212-A-G p.Thr318Ala missense AFF2 1 82092 1.21815E-5 41046 0 NA
X-147744244-T-C p.Ser328Ser synonymous AFF2 1 81572 1.22591E-5 40786 0 NA
X-147744255-A-G p.Lys332Arg missense AFF2 1 81430 1.22805E-5 40715 0 4.52059E-5
X-147744257-C-T p.Leu333Leu synonymous AFF2 4 81398 4.91413E-5 40699 2 4.52345E-5
X-147744282-C-A p.Thr341Lys missense AFF2 1 81054 1.23375E-5 40527 0 2.28883E-5
X-147744282-C-T p.Thr341Ile missense AFF2 1 81054 1.23375E-5 40527 0 NA
X-147800623-T-C c.-82T>C 5_prime_UTR_premature_start_codon_gain AFF2 1 72890 1.37193E-5 36445 0 NA
X-147800705-A-G p.Met1? start_lost AFF2 1 76418 1.30859E-5 38209 0 9.87664E-6
X-147800736-C-T p.Pro11Leu missense AFF2 6 76390 7.85443E-5 38195 2 4.59432E-5
X-147800737-G-A p.Pro11Pro synonymous AFF2 757 76288 0.00992292 38144 193 0.0156951
X-147800737-G-T p.Pro11Pro synonymous AFF2 1 76328 1.31014E-5 38164 0 NA
X-147800748-A-G p.Lys15Arg missense AFF2 19819 75150 0.263726 37575 6399 0.322506
X-147800753-A-T p.Lys17* stop_gained AFF2 2 76224 2.62385E-5 38112 1 NA
X-147891420-A-G p.Pro24Pro synonymous AFF2 3 82630 3.63064E-5 41315 1 9.08265E-5
X-147891442-C-A p.Arg32Arg splice_region+synonymous AFF2 1 82490 1.21227E-5 41245 0 1.37545E-4
X-147891442-C-T p.Arg32Trp missense+splice_region AFF2 2 82490 2.42454E-5 41245 1 3.42963E-5
X-147891443-G-A p.Arg32Gln missense+splice_region AFF2 5 82490 6.06134E-5 41245 1 3.20572E-4
X-147919177-A-C p.Thr365Pro missense AFF2 1 80726 1.23876E-5 40363 0 NA
X-147919181-A-G p.His366Arg missense AFF2 16 80970 1.97604E-4 40485 3 2.54162E-4
X-147919184-C-T p.Ser367Phe missense AFF2 5 81036 6.1701E-5 40518 0 0.00125
X-147919201-A-T p.Thr373Ser missense AFF2 2 81324 2.4593E-5 40662 1 NA
X-147919205-C-A p.Ser374Tyr missense AFF2 26 81420 3.19332E-4 40710 8 9.85143E-4
X-147919213-A-G p.Thr377Ala missense AFF2 1 81424 1.22814E-5 40712 0 NA
X-147919244-C-A p.Ser387Tyr missense AFF2 8 81060 9.86923E-5 40530 3 0.00375
X-147919253-G-C p.Gly390Ala missense AFF2 1 80798 1.23765E-5 40399 0 3.46312E-5
X-147919265-C-A c.1173+8C>A splice_region AFF2 2 79900 2.50313E-5 39950 0 NA
X-147924492-A-G p.Glu33Glu splice_region+synonymous AFF2 1 81438 1.22793E-5 40719 0 NA
X-147924501-T-A p.His36Gln missense AFF2 1 81514 1.22678E-5 40757 0 NA
X-147924516-C-T p.Phe41Phe synonymous AFF2 1 81544 1.22633E-5 40772 0 5.65524E-6
X-147924928-A-G p.Arg52Arg synonymous AFF2 2 82180 2.43368E-5 41090 1 3.22997E-4
X-147924932-T-C p.Ser54Pro missense AFF2 2 82170 2.43398E-5 41085 1 5.49602E-6
X-147924958-G-A c.185+1G>A splice_donor AFF2 2 81928 2.44117E-5 40964 0 1.14491E-5
X-147967441-C-A p.Leu70Met missense AFF2 1 81830 1.22205E-5 40915 0 NA
X-147967443-G-T p.Leu70Leu synonymous AFF2 1 81854 1.22169E-5 40927 0 4.60638E-5
X-147967448-G-A p.Ser72Asn missense AFF2 1 81876 1.22136E-5 40938 0 5.46582E-6
X-147967461-C-A p.Asp76Glu missense AFF2 1 81810 1.22234E-5 40905 0 3.42153E-5
X-147967465-G-C p.Glu78Gln missense AFF2 1 81760 1.22309E-5 40880 0 4.60426E-5
X-147967478-C-T p.Thr82Ile missense AFF2 2 81636 2.4499E-5 40818 0 NA
X-147967486-A-G p.Thr85Ala missense AFF2 23 81526 2.82119E-4 40763 6 6.88231E-4
X-147967500-C-T p.Ala89Ala synonymous AFF2 1 81296 1.23007E-5 40648 0 5.47483E-6
X-147967509-C-G p.Leu92Leu synonymous AFF2 91 81020 0.00112318 40510 13 0.00271202
X-147967520-G-C c.282+5G>C splice_region AFF2 1 80614 1.24048E-5 40307 0 NA
X-147985756-T-C p.Val96Val synonymous AFF2 3 76780 3.90727E-5 38390 0 2.30283E-5
X-147985764-C-T p.Ala99Val missense AFF2 1 76902 1.30036E-5 38451 0 NA
X-147985794-T-C c.320+6T>C splice_region AFF2 1 75892 1.31766E-5 37946 0 NA
X-148035117-T-C p.Leu110Leu synonymous AFF2 2 81368 2.45797E-5 40684 0 4.54133E-5
X-148035135-C-T p.Pro116Ser missense AFF2 1 81812 1.22231E-5 40906 0 9.07606E-5
X-148035155-C-T p.Ser122Ser synonymous AFF2 1 82106 1.21794E-5 41053 0 4.56913E-5
X-148035156-G-C p.Gly123Arg missense AFF2 4 82132 4.87021E-5 41066 2 3.65581E-4
X-148035156-G-A p.Gly123Arg missense AFF2 2 82132 2.4351E-5 41066 1 NA
X-148035157-G-C p.Gly123Ala missense AFF2 5 82144 6.08687E-5 41072 2 2.3054E-5
X-148035160-G-A p.Gly124Asp missense AFF2 1 82164 1.21708E-5 41082 0 1.15117E-5
X-148035160-G-T p.Gly124Val missense AFF2 1 82164 1.21708E-5 41082 0 5.47169E-6
X-148035167-C-T p.Gly126Gly synonymous AFF2 2 82154 2.43445E-5 41077 1 NA
X-148035172-C-T p.Ser128Phe missense AFF2 1 82134 1.21752E-5 41067 0 NA
X-148035182-G-A p.Ser131Ser synonymous AFF2 9 82092 1.09633E-4 41046 2 0.00206612
X-148035191-C-T p.Ser134Ser synonymous AFF2 2 82014 2.43861E-5 41007 0 3.82587E-5
X-148035191-CTCT-C p.Ser135del conservative_inframe_deletion AFF2 2 82014 2.43861E-5 41007 0 2.73276E-5
X-148035197-G-T p.Glu136Asp missense AFF2 2 81988 2.43938E-5 40994 1 NA
X-148035200-G-A p.Ser137Ser synonymous AFF2 7523 81804 0.0919637 40902 2199 0.137211
X-148035233-C-T p.Ser148Ser synonymous AFF2 3 81446 3.68342E-5 40723 0 4.66483E-5
X-148035239-T-G p.Ser150Ser synonymous AFF2 3 81372 3.68677E-5 40686 1 1.16097E-5
X-148035250-C-G p.Pro154Arg missense AFF2 2 81008 2.46889E-5 40504 1 NA
X-148035253-G-C p.Arg155Pro missense AFF2 1 80812 1.23744E-5 40406 0 4.70057E-5
X-148035258-G-T p.Ala157Ser missense AFF2 1 80634 1.24017E-5 40317 0 NA
X-148035258-G-C p.Ala157Pro missense AFF2 1 80634 1.24017E-5 40317 0 NA
X-148037133-C-T p.Pro161Ser missense+splice_region AFF2 2 82208 2.43285E-5 41104 1 4.54669E-5
X-148037156-G-A p.Lys168Lys synonymous AFF2 1 82390 1.21374E-5 41195 0 NA
X-148037183-A-G p.Lys177Lys synonymous AFF2 4 82910 4.82451E-5 41455 1 1.39649E-4
X-148037186-G-A p.Val178Val synonymous AFF2 1 82954 1.20549E-5 41477 0 NA
X-148037201-G-C p.Lys183Asn missense AFF2 1 83114 1.20317E-5 41557 0 4.92153E-5
X-148037215-G-A p.Gly188Asp missense AFF2 4 83168 4.80954E-5 41584 0 2.85453E-4
X-148037228-A-G p.Thr192Thr synonymous AFF2 976 83180 0.0117336 41590 216 0.0231547
X-148037234-G-A p.Met194Ile missense AFF2 1 83188 1.2021E-5 41594 0 1.1405E-5
X-148037243-T-C p.Ile197Ile synonymous AFF2 1 83180 1.20221E-5 41590 0 NA
X-148037257-C-A p.Pro202Gln missense AFF2 2 83162 2.40494E-5 41581 1 5.70275E-5
X-148037272-T-C p.Met207Thr missense AFF2 16 83136 1.92456E-4 41568 5 0.00121053
X-148037272-T-A p.Met207Lys missense AFF2 7 83136 8.41994E-5 41568 2 NA
X-148037274-GA-G p.Val209fs frameshift AFF2 2 83122 2.4061E-5 41561 1 NA
X-148037277-G-A p.Val209Ile missense AFF2 2 83094 2.40691E-5 41547 0 1.09055E-5
X-148037296-C-T p.Thr215Met missense AFF2 5 83030 6.02192E-5 41515 1 2.28154E-4
X-148037297-G-A p.Thr215Thr synonymous AFF2 3 83026 3.61333E-5 41513 1 4.56496E-5
X-148037300-T-C p.Asn216Asn synonymous AFF2 1 83012 1.20465E-5 41506 0 NA
X-148037303-C-T p.Ala217Ala synonymous AFF2 1 82992 1.20494E-5 41496 0 NA
X-148037351-T-C p.Ile233Ile synonymous AFF2 1 82726 1.20881E-5 41363 0 NA
X-148037362-C-A p.Ala237Asp missense AFF2 3 82706 3.62731E-5 41353 1 NA
X-148037363-C-A p.Ala237Ala synonymous AFF2 85 82704 0.00102776 41352 20 0.00100793
X-148037365-G-A p.Arg238His missense AFF2 8 82712 9.67212E-5 41356 2 9.15919E-5
X-148037370-C-T p.Arg240Trp missense AFF2 2 82698 2.41844E-5 41349 1 6.86044E-5
X-148037371-G-A p.Arg240Gln missense AFF2 1 82682 1.20945E-5 41341 0 1.63968E-5
X-148037378-T-A p.Thr242Thr synonymous AFF2 1 82678 1.20951E-5 41339 0 NA
X-148037400-G-T p.Ala250Ser missense AFF2 1 82732 1.20872E-5 41366 0 NA
X-148037408-G-A p.Lys252Lys synonymous AFF2 1 82732 1.20872E-5 41366 0 1.14317E-5
X-148037409-C-G p.His253Asp missense AFF2 10 82748 1.20849E-4 41374 3 2.5148E-4
X-148037425-C-T p.Thr258Ile missense AFF2 1 82750 1.20846E-5 41375 0 5.45828E-6
X-148037428-G-C p.Ser259Thr missense AFF2 1 82744 1.20855E-5 41372 0 NA
X-148037428-G-A p.Ser259Asn missense AFF2 1 82744 1.20855E-5 41372 0 NA
X-148037433-A-G p.Thr261Ala missense AFF2 15 82746 1.81278E-4 41373 1 8.1915E-4
X-148037465-G-T p.Gln271His missense AFF2 4 82698 4.83688E-5 41349 0 4.91422E-5
X-148037498-C-T p.Asp282Asp synonymous AFF2 2 82794 2.41563E-5 41397 1 2.28517E-5
X-148037504-T-A p.Phe284Leu missense AFF2 1 82808 1.20761E-5 41404 0 NA
X-148037511-C-T p.Pro287Ser missense AFF2 1 82800 1.20773E-5 41400 0 NA
X-148037517-C-T p.Pro289Ser missense AFF2 2 82826 2.4147E-5 41413 1 NA
X-148037542-A-G p.Lys297Arg missense AFF2 2 82844 2.41418E-5 41422 1 1.14241E-5
X-148037543-A-C p.Lys297Asn missense AFF2 1 82814 1.20753E-5 41407 0 2.72811E-5
X-148037567-T-C p.His305His synonymous AFF2 1 82796 1.20779E-5 41398 0 1.59954E-4
X-148037571-C-G p.Pro307Ala missense AFF2 3 82828 3.62196E-5 41414 1 NA
X-148037589-A-G p.Lys313Glu missense AFF2 2 82918 2.41202E-5 41459 0 5.46221E-6
X-148037605-A-C p.Lys318Thr missense AFF2 2 83000 2.40964E-5 41500 1 NA
X-148037609-A-T p.Pro319Pro synonymous AFF2 2 83004 2.40952E-5 41502 0 NA
X-148037610-G-A p.Ala320Thr missense AFF2 2 83008 2.40941E-5 41504 1 NA
X-148037637-A-AT p.Leu331fs frameshift AFF2 2 83060 2.4079E-5 41530 0 NA
X-148037640-C-T p.Pro330Ser missense AFF2 89 83080 0.00107126 41540 26 0.00245041
X-148037649-C-T p.Pro333Ser missense AFF2 1 83060 1.20395E-5 41530 0 5.45807E-6
X-148037651-C-T p.Pro333Pro synonymous AFF2 2 83054 2.40807E-5 41527 1 1.14144E-5
X-148037652-GAGA-G p.Lys337del conservative_inframe_deletion AFF2 3 83056 3.61202E-5 41528 1 3.4238E-5
X-148037663-G-T p.Lys337Asn missense AFF2 2 83040 2.40848E-5 41520 0 NA
X-148037684-T-G p.Ile344Met missense AFF2 1 83020 1.20453E-5 41510 0 NA
X-148037707-T-A p.Ile352Asn missense AFF2 1 82894 1.20636E-5 41447 0 NA
X-148037722-C-G p.Ser357Cys missense AFF2 2 82808 2.41523E-5 41404 1 2.27957E-5
X-148037756-C-T p.Thr368Thr synonymous AFF2 56 82602 6.7795E-4 41301 15 7.35362E-4
X-148037756-C-A p.Thr368Thr synonymous AFF2 8 82602 9.685E-5 41301 2 9.19202E-5
X-148037771-C-T p.Val373Val synonymous AFF2 9 82674 1.08861E-4 41337 3 4.1035E-4
X-148037776-C-G p.Pro375Arg missense AFF2 1 82696 1.20925E-5 41348 0 5.45572E-6
X-148037779-C-T p.Pro376Leu missense AFF2 2 82708 2.41815E-5 41354 1 4.57457E-5
X-148037780-G-T p.Pro376Pro synonymous AFF2 1 82708 1.20907E-5 41354 0 NA
X-148037780-G-A p.Pro376Pro synonymous AFF2 2 82708 2.41815E-5 41354 0 2.18255E-5
X-148037797-G-A p.Gly382Asp missense AFF2 2 82870 2.41342E-5 41435 1 NA
X-148037798-T-A p.Gly382Gly synonymous AFF2 1 82880 1.20656E-5 41440 0 NA
X-148037822-C-G p.Ile390Met missense AFF2 2 83064 2.40778E-5 41532 0 1.13986E-5
X-148037827-G-C p.Gly392Ala missense AFF2 4 83064 4.81556E-5 41532 1 5.45203E-6
X-148037855-GAGT-G p.Ser403del disruptive_inframe_deletion AFF2 2 83162 2.40494E-5 41581 1 NA
X-148037860-G-A p.Ser403Asn missense AFF2 1 83178 1.20224E-5 41589 0 5.4506E-6
X-148037869-GCAA-G p.Asn409del conservative_inframe_deletion AFF2 10 83204 1.20187E-4 41602 4 4.55856E-5
X-148037883-T-C p.Ser411Pro missense AFF2 1 83218 1.20166E-5 41609 0 3.419E-5
X-148037891-T-C p.Ser413Ser synonymous AFF2 2 83246 2.40252E-5 41623 0 5.44989E-6
X-148037893-A-C p.Asn414Thr missense AFF2 1 83252 1.20117E-5 41626 0 1.13959E-5
X-148037926-T-G p.Met425Arg missense AFF2 9 83226 1.08139E-4 41613 3 2.28551E-4
X-148037957-T-C p.Asp435Asp synonymous AFF2 3 83216 3.60508E-5 41608 1 4.57896E-5
X-148037997-G-C p.Asp449His missense AFF2 2 83118 2.40622E-5 41559 1 NA
X-148037999-C-T p.Asp449Asp synonymous AFF2 27 83112 3.24863E-4 41556 7 2.27718E-4
X-148038012-G-A p.Val454Ile missense AFF2 2 83012 2.40929E-5 41506 1 4.55664E-5
X-148038023-C-A p.His457Gln missense AFF2 1 82916 1.20604E-5 41458 0 5.4528E-6
X-148038035-T-C p.His461His synonymous AFF2 3 82812 3.62266E-5 41406 1 NA
X-148038059-CAAG-C p.Lys470del conservative_inframe_deletion AFF2 2 82858 2.41377E-5 41429 1 1.63669E-5
X-148038084-C-T p.Arg478Cys missense AFF2 1 82814 1.20753E-5 41407 0 8.01576E-5
X-148038089-G-C p.Gln479His missense AFF2 1 82860 1.20685E-5 41430 0 NA
X-148038093-G-A p.Ala481Thr missense AFF2 2 82852 2.41394E-5 41426 0 NA
X-148038110-G-A p.Glu486Glu synonymous AFF2 2 82852 2.41394E-5 41426 1 4.55415E-5
X-148039862-T-G c.1492-5T>G splice_region AFF2 4 82724 4.83536E-5 41362 1 NA
X-148039871-T-C p.Ile499Thr missense AFF2 2 82788 2.41581E-5 41394 0 3.28989E-5
X-148039873-G-A p.Glu500Lys missense AFF2 1 82796 1.20779E-5 41398 0 NA
X-148039895-A-C p.Glu507Ala missense AFF2 3 82808 3.62284E-5 41404 1 NA
X-148039906-C-T p.Arg511Cys missense AFF2 7 82802 8.4539E-5 41401 2 4.3717E-5
X-148039907-G-A p.Arg511His missense AFF2 1 82782 1.20799E-5 41391 0 4.59855E-5
X-148039912-G-C p.Glu513Gln missense AFF2 1 82822 1.20741E-5 41411 0 NA
X-148039954-C-G p.Pro527Ala missense AFF2 107 82828 0.00129183 41414 30 0.00116515
X-148039955-C-G p.Pro527Arg missense AFF2 2 82834 2.41447E-5 41417 1 4.59855E-5
X-148039964-C-T p.Pro530Leu missense AFF2 1 82764 1.20825E-5 41382 0 NA
X-148039973-C-T p.Pro533Leu missense AFF2 22 82704 2.66009E-4 41352 8 4.58663E-5
X-148039977-C-A p.Pro534Pro synonymous AFF2 3 82670 3.62889E-5 41335 1 NA
X-148039985-G-C p.Arg537Thr missense AFF2 2 82568 2.42225E-5 41284 1 NA
X-148044253-C-T p.Ser541Leu missense AFF2 2 82104 2.43593E-5 41052 0 2.2211E-5
X-148044278-G-A p.Lys549Lys synonymous AFF2 1 82638 1.2101E-5 41319 0 NA
X-148044289-T-G p.Leu553Arg missense AFF2 1 82766 1.20823E-5 41383 0 3.28045E-5
X-148044304-T-C p.Leu558Pro missense AFF2 1 82854 1.20694E-5 41427 0 NA
X-148044310-C-T p.Pro560Leu missense AFF2 4 82880 4.82625E-5 41440 2 1.0919E-5
X-148044333-C-T p.Arg568Cys missense AFF2 2 82878 2.41319E-5 41439 1 5.45735E-5
X-148044334-G-A p.Arg568His missense AFF2 168 82880 0.00202703 41440 38 0.01
X-148044342-G-A p.Val571Ile missense AFF2 1 82924 1.20592E-5 41462 0 4.53063E-5
X-148044358-G-A p.Gly576Asp missense AFF2 4 82928 4.82346E-5 41464 2 1.25512E-4
X-148044372-G-A p.Asp581Asn missense AFF2 1 82888 1.20645E-5 41444 0 1.14949E-5
X-148044377-A-T p.Lys582Asn missense AFF2 5 82874 6.03326E-5 41437 2 1.14989E-5
X-148044378-A-G p.Asn583Asp missense AFF2 1 82870 1.20671E-5 41435 0 NA
X-148044380-C-T p.Asn583Asn synonymous AFF2 3 82854 3.62083E-5 41427 1 2.30004E-5
X-148044381-A-G p.Ile584Val missense AFF2 1 82842 1.20712E-5 41421 0 1.14999E-5
X-148044384-G-A p.Ala585Thr missense AFF2 3 82816 3.62249E-5 41408 1 5.45947E-6
X-148044384-G-T p.Ala585Ser missense AFF2 1 82816 1.2075E-5 41408 0 NA
X-148044391-C-G p.Thr587Ser missense AFF2 1 82776 1.20808E-5 41388 0 NA
X-148044410-C-G p.Thr593Thr synonymous AFF2 1 82632 1.21018E-5 41316 0 NA
X-148044429-G-A p.Gly600Ser missense AFF2 5 82354 6.07135E-5 41177 2 1.16579E-5
X-148044456-A-T p.Ile609Leu missense AFF2 2 81244 2.46172E-5 40622 1 NA
X-148044460-C-T p.Ser936Leu missense+splice_region AFF2 1 80974 1.23496E-5 40487 0 1.23185E-5
X-148044461-G-A p.Ser936Ser splice_region+synonymous AFF2 3 80902 3.70819E-5 40451 0 9.17642E-5
X-148048317-C-A c.1837-3C>A splice_region AFF2 1 79680 1.25502E-5 39840 0 NA
X-148048335-A-G p.Lys618Glu missense AFF2 2 79592 2.51282E-5 39796 1 NA
X-148048341-G-C p.Ala620Pro missense AFF2 5 79558 6.28472E-5 39779 1 2.76149E-4
X-148048381-CCACTGCTACTGT-C p.Val637_Thr640del disruptive_inframe_deletion AFF2 11 79530 1.38313E-4 39765 1 7.98203E-5
X-148048381-C-T p.Ala633Val missense AFF2 1 79530 1.25739E-5 39765 0 1.14029E-5
X-148048397-TGCTACTGCCATTGTCACCACCACTGTCACA-T p.Ile642_Ala651del disruptive_inframe_deletion AFF2 11 79398 1.38543E-4 39699 4 2.8177E-4
X-148048418-CACT-C p.Thr646del conservative_inframe_deletion AFF2 1 79358 1.26011E-5 39679 0 1.41057E-4
X-148048420-C-G p.Thr646Ser missense AFF2 2 79346 2.52061E-5 39673 0 4.70655E-5
X-148048439-C-T p.Thr652Thr synonymous AFF2 6 79438 7.55306E-5 39719 1 6.25E-4
X-148048444-C-T p.Thr654Met missense AFF2 2 79500 2.51572E-5 39750 1 NA
X-148048446-GCCA-G p.Thr658del disruptive_inframe_deletion AFF2 9 79468 1.13253E-4 39734 3 7.08717E-4
X-148048464-A-G p.Thr661Ala missense AFF2 1 79756 1.25382E-5 39878 0 4.73283E-5
X-148048486-C-A p.Thr668Asn missense AFF2 5 79988 6.25094E-5 39994 2 4.63156E-5
X-148048494-A-C p.Ile671Leu missense AFF2 84 79976 0.00105032 39988 22 9.92217E-4
X-148048506-C-A p.Leu675Ile missense AFF2 8 80016 9.998E-5 40008 2 5.69768E-5
X-148048511-G-C p.Met676Ile missense AFF2 1 80002 1.24997E-5 40001 0 NA
X-148048521-C-A p.His680Asn missense AFF2 3 79980 3.75094E-5 39990 1 NA
X-148048528-A-G p.Glu682Gly missense AFF2 1 79970 1.25047E-5 39985 0 5.51371E-6
X-148048535-G-A p.Thr684Thr synonymous AFF2 5 79944 6.25438E-5 39972 2 5.69794E-5
X-148048543-C-T p.Ala687Val missense AFF2 4 79902 5.00613E-5 39951 1 1.65455E-5
X-148048544-G-A p.Ala687Ala synonymous AFF2 3 79900 3.75469E-5 39950 0 3.30945E-5
X-148048559-A-G p.Leu692Leu synonymous AFF2 56 79770 7.02018E-4 39885 11 0.00212615
X-148049160-G-A p.Val710Ile missense+splice_region AFF2 2 81774 2.44577E-5 40887 1 9.06577E-5
X-148049222-G-C p.Leu730Leu splice_region+synonymous AFF2 3 82200 3.64963E-5 41100 1 1.15864E-5
X-148049227-G-C c.2190+5G>C splice_region AFF2 1 82112 1.21785E-5 41056 0 5.56047E-6
X-148049227-G-A c.2190+5G>A splice_region AFF2 1 82112 1.21785E-5 41056 0 4.44837E-5
X-148055001-T-A p.Phe731Ile missense+splice_region AFF2 14 82910 1.68858E-4 41455 3 2.74411E-4
X-148055037-G-T p.Ala743Ser missense AFF2 2 82986 2.41005E-5 41493 1 NA
X-148055077-G-A p.Arg756His missense AFF2 1 82782 1.20799E-5 41391 0 5.4567E-6
X-148055078-C-T p.Arg756Arg synonymous AFF2 6 82772 7.24883E-5 41386 0 1.82849E-4
X-148055102-A-G p.Pro764Pro synonymous AFF2 2 82458 2.42548E-5 41229 1 1.0921E-5
X-148055144-A-G c.2327+7A>G splice_region AFF2 52167 54190 0.962668 27095 25568 0.99875
X-148059505-G-A p.Ser790Ser synonymous AFF2 2 82196 2.43321E-5 41098 0 0.00137646
X-148059506-G-T p.Asp791Tyr missense AFF2 1 82228 1.21613E-5 41114 0 3.42352E-5
X-148059514-C-T p.Asp793Asp synonymous AFF2 10 82174 1.21693E-4 41087 2 9.16464E-5
X-148059529-A-G p.Val798Val synonymous AFF2 17 81868 2.07651E-4 40934 5 1.58237E-4
X-148059951-T-C p.Met820Thr missense AFF2 3 82280 3.64609E-5 41140 1 NA
X-148059958-C-T p.Tyr822Tyr synonymous AFF2 19 82110 2.31397E-4 41055 5 1.4236E-4
X-148062286-G-T p.Ala838Ser missense AFF2 1 81848 1.22178E-5 40924 0 NA
X-148062286-G-A p.Ala838Thr missense AFF2 2 81848 2.44355E-5 40924 0 9.09504E-5
X-148062287-C-A p.Ala838Glu missense AFF2 4 81964 4.88019E-5 40982 1 5.47235E-6
X-148062289-C-G p.Gln839Glu missense AFF2 2 81968 2.43998E-5 40984 1 NA
X-148062296-C-A p.Pro841His missense AFF2 1 81946 1.22032E-5 40973 0 6.85479E-5
X-148068908-C-A p.Ser853Tyr missense AFF2 1 82250 1.21581E-5 41125 0 NA
X-148068919-C-T p.Leu857Phe missense AFF2 2 82610 2.42101E-5 41305 0 1.65744E-5
X-148068927-C-T p.Asn859Asn synonymous AFF2 6 82712 7.25409E-5 41356 1 2.30457E-4
X-148068929-T-C p.Val860Ala missense AFF2 1 82776 1.20808E-5 41388 0 NA
X-148068942-C-T p.Asn864Asn synonymous AFF2 4 82952 4.82207E-5 41476 2 4.38722E-5
X-148068943-G-A p.Ala865Thr missense AFF2 2 82946 2.41121E-5 41473 1 5.73717E-5
X-148068952-A-C p.Asn868His missense AFF2 9 83034 1.08389E-4 41517 3 1.14355E-5
X-148068966-C-T p.Gly872Gly synonymous AFF2 24 83038 2.89024E-4 41519 6 6.40059E-4
X-148068969-A-T p.Pro873Pro synonymous AFF2 35 83018 4.21595E-4 41509 9 0.00206612
X-148068974-C-T p.Thr875Ile missense AFF2 2 83002 2.40958E-5 41501 0 5.45768E-6
X-148068985-C-T p.Arg879Cys missense AFF2 3 82926 3.61768E-5 41463 1 NA
X-148068996-C-T p.His882His synonymous AFF2 1 82864 1.2068E-5 41432 0 NA
X-148069011-C-T p.His887His synonymous AFF2 2 82702 2.41832E-5 41351 1 1.09235E-5
X-148069036-C-A p.Arg896Arg synonymous AFF2 2 82360 2.42836E-5 41180 1 NA
X-148069037-G-A p.Arg896Gln missense AFF2 1 82340 1.21448E-5 41170 0 NA
X-148069050-C-T p.His900His synonymous AFF2 14 82072 1.70582E-4 41036 5 0.00275293
X-148072762-C-T p.Thr920Met missense AFF2 2 82372 2.42801E-5 41186 1 NA
X-148072763-G-A p.Thr920Thr synonymous AFF2 725 82336 0.00880538 41168 179 0.023644
X-148072774-C-G p.Pro924Arg missense AFF2 3 82656 3.6295E-5 41328 1 NA
X-148072798-C-T p.Thr932Ile missense AFF2 2 82794 2.41563E-5 41397 1 2.21771E-5
X-148072809-C-T p.Arg936Cys missense AFF2 2 82780 2.41604E-5 41390 1 5.54213E-6
X-148072809-C-G p.Arg936Gly missense AFF2 1 82780 1.20802E-5 41390 0 NA
X-148072814-C-T p.Tyr937Tyr synonymous AFF2 3 82792 3.62354E-5 41396 0 1.66274E-5
X-148072844-C-A p.Ile947Ile synonymous AFF2 2 82594 2.42148E-5 41297 1 NA
X-148072844-C-T p.Ile947Ile synonymous AFF2 1 82594 1.21074E-5 41297 0 1.16234E-5
X-148072853-CTTG-C p.Leu952del disruptive_inframe_deletion AFF2 1 82516 1.21189E-5 41258 0 4.56246E-5
X-148072854-T-C p.Leu951Leu synonymous AFF2 1 82498 1.21215E-5 41249 0 NA
X-148082191-T-C c.*9329T>C splice_region AFF2 1 44130 2.26603E-5 22065 0 NA