Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-17338430-A-G c.-459A>G 5_prime_UTR_premature_start_codon_gain AHR 249 312 0.798077 156 98 0.791753
7-17338631-C-T c.-258C>T 5_prime_UTR_premature_start_codon_gain AHR 1 24588 4.06702E-5 12294 0 NA
7-17338684-C-T c.-205C>T 5_prime_UTR_premature_start_codon_gain AHR 1 43870 2.27946E-5 21935 0 NA
7-17338754-C-T c.-135C>T 5_prime_UTR_premature_start_codon_gain AHR 3 69714 4.3033E-5 34857 0 3.18959E-5
7-17338785-C-T c.-104C>T 5_prime_UTR_premature_start_codon_gain AHR 1 73288 1.36448E-5 36644 0 NA
7-17338807-C-T c.-82C>T 5_prime_UTR_premature_start_codon_gain AHR 1 75256 1.3288E-5 37628 0 NA
7-17338857-C-T c.-32C>T 5_prime_UTR_premature_start_codon_gain AHR 30 78244 3.83416E-4 39122 0 0.00237511
7-17338908-A-G p.Asn7Ser missense AHR 1 79954 1.25072E-5 39977 0 8.19135E-6
7-17338910-A-T p.Ile8Phe missense AHR 1 79976 1.25038E-5 39988 0 NA
7-17338911-T-A p.Ile8Asn missense AHR 1 79922 1.25122E-5 39961 0 NA
7-17338919-G-T p.Ala11Ser missense AHR 1 79954 1.25072E-5 39977 0 4.09792E-6
7-17338919-G-A p.Ala11Thr missense AHR 1 79954 1.25072E-5 39977 0 9.03179E-6
7-17338927-C-G p.Arg13Arg synonymous AHR 2 79966 2.50106E-5 39983 0 4.11144E-6
7-17338943-G-A p.Val19Met missense AHR 1 80044 1.24931E-5 40022 0 NA
7-17338953-C-CAGTAAAGCCAATCCCAGCTGAAG c.65_65+1insAGTAAAGCCAATCCCAGCTGAAG splice_donor AHR 2 79920 2.5025E-5 39960 0 NA
7-17349551-G-GT c.66-9_66-8insT splice_region AHR 1 81278 1.23035E-5 40639 0 NA
7-17349575-A-T p.Pro27Pro synonymous AHR 1 82810 1.20758E-5 41405 0 NA
7-17349585-A-G p.Ile31Val missense AHR 1 82882 1.20653E-5 41441 0 3.99077E-6
7-17349605-G-A p.Lys37Lys synonymous AHR 17 83172 2.04396E-4 41586 0 5.03525E-4
7-17349606-C-T p.Arg38Trp missense AHR 1 83146 1.2027E-5 41573 0 NA
7-17349610-A-G p.His39Arg missense AHR 1 83288 1.20065E-5 41644 0 NA
7-17349611-T-C p.His39His synonymous AHR 2 83294 2.40113E-5 41647 0 NA
7-17349626-T-C p.Asn44Asn synonymous AHR 5816 83282 0.069835 41641 273 0.0830678
7-17349629-A-G p.Thr45Thr synonymous AHR 1 83350 1.19976E-5 41675 0 NA
7-17349639-C-T p.Arg49Cys missense AHR 2 83360 2.39923E-5 41680 0 NA
7-17349640-G-A p.Arg49His missense AHR 1 83368 1.1995E-5 41684 0 5.77767E-5
7-17349644-G-A p.Leu50Leu synonymous AHR 9 83358 1.07968E-4 41679 0 0.00100705
7-17349661-TCC-T p.Pro57fs frameshift AHR 1 83346 1.19982E-5 41673 0 NA
7-17349667-AAGATGT-A p.Gln58_Val60delinsHis disruptive_inframe_deletion AHR 1 83316 1.20025E-5 41658 0 NA
7-17349676-T-C p.Ile61Thr missense AHR 1 83286 1.20068E-5 41643 0 3.97893E-6
7-17349702-C-G p.Leu70Val missense AHR 2 83182 2.40437E-5 41591 0 NA
7-17349714-G-A p.Val74Ile missense AHR 2 83144 2.40547E-5 41572 0 6.25E-4
7-17349733-A-G p.Lys80Arg missense AHR 1 83082 1.20363E-5 41541 0 3.1841E-5
7-17349747-G-GTTGCATTAAAATCCTCCCCTACTGAAAGAAACGGAGGCCAGGATAACT c.253_253+1insTTGCATTAAAATCCTCCCCTACTGAAAGAAACGGAGGCCAGGATAACT splice_donor AHR 2 82964 2.41068E-5 41482 1 NA
7-17362121-A-G c.254-4A>G splice_region AHR 1 82800 1.20773E-5 41400 0 NA
7-17362129-A-G p.Ala86Ala synonymous AHR 30 82972 3.61568E-4 41486 0 5.73906E-4
7-17362138-C-T p.Ser89Ser synonymous AHR 1 83036 1.2043E-5 41518 0 7.99782E-6
7-17362150-A-G p.Glu93Glu synonymous AHR 2 83064 2.40778E-5 41532 0 NA
7-17362156-C-G p.Asn95Lys missense AHR 1 83090 1.20351E-5 41545 0 NA
7-17362157-G-A p.Gly96Arg missense AHR 5 83076 6.01859E-5 41538 0 3.59072E-5
7-17362161-G-T p.Gly97Val missense AHR 1 83090 1.20351E-5 41545 0 NA
7-17362166-G-A p.Asp99Asn missense AHR 1 83116 1.20314E-5 41558 0 1.69362E-5
7-17362167-A-T p.Asp99Val missense AHR 2 83118 2.40622E-5 41559 0 3.18695E-5
7-17362175-A-G p.Arg102Gly missense AHR 1 83120 1.20308E-5 41560 0 5.08001E-5
7-17362177-A-G p.Arg102Arg synonymous AHR 1 83106 1.20328E-5 41553 0 NA
7-17362178-G-A p.Ala103Thr missense AHR 1 83094 1.20346E-5 41547 0 8.77095E-5
7-17362183-A-C p.Ala104Ala synonymous AHR 7 83094 8.42419E-5 41547 0 1.95213E-4
7-17362189-C-T p.Phe106Phe synonymous AHR 1 83074 1.20375E-5 41537 0 NA
7-17362191-G-T p.Arg107Ile missense AHR 32 83068 3.85227E-4 41534 0 3.16982E-4
7-17362207-A-G p.Leu112Leu synonymous AHR 5 82948 6.02787E-5 41474 0 0.001875
7-17362220-TTC-T p.Leu118fs frameshift AHR 2 82808 2.41523E-5 41404 0 9.31289E-6
7-17362223-T-TGGCA p.Leu118fs frameshift AHR 1 82726 1.20881E-5 41363 0 NA
7-17362224-T-TGA p.Leu119fs frameshift AHR 1 82704 1.20913E-5 41352 0 9.69218E-6
7-17362226-T-A p.Leu119Ile missense AHR 2 82648 2.4199E-5 41324 0 9.77001E-6
7-17362226-T-C p.Leu119Leu synonymous AHR 1 82650 1.20992E-5 41325 0 0.00188442
7-17367375-C-A c.361-8C>A splice_region AHR 2 79730 2.50847E-5 39865 0 NA
7-17367379-G-A c.361-4G>A splice_region AHR 85 79930 0.00106343 39965 0 5.61112E-4
7-17367414-C-T p.Thr131Ile missense AHR 10 80716 1.23891E-4 40358 0 1.40424E-4
7-17367420-C-G p.Ala133Gly missense AHR 1 80724 1.23879E-5 40362 0 NA
7-17367422-T-G p.Leu134Val missense AHR 1 80730 1.2387E-5 40365 0 1.61441E-5
7-17367437-T-G p.Ser139Ala missense AHR 1 80620 1.24039E-5 40310 0 NA
7-17367440-T-C p.Ser140Pro missense AHR 1 80568 1.24119E-5 40284 0 4.95786E-5
7-17367443-A-T p.Thr141Ser missense AHR 2 80478 2.48515E-5 40239 0 7.43863E-5
7-17367476-A-G c.450+4A>G splice_region AHR 1 76644 1.30473E-5 38322 0 8.52704E-6
7-17367477-G-A c.450+5G>A splice_region AHR 2 76498 2.61445E-5 38249 0 NA
7-17367479-A-G c.450+7A>G splice_region AHR 2 76176 2.6255E-5 38088 0 1.52826E-5
7-17369577-C-A p.Ser151Tyr missense+splice_region AHR 1 82706 1.2091E-5 41353 0 NA
7-17369596-T-C p.Ser157Ser synonymous AHR 2 82752 2.41686E-5 41376 0 NA
7-17369603-G-A p.Glu160Lys missense AHR 1 82770 1.20817E-5 41385 0 NA
7-17369617-C-T p.Thr164Thr synonymous AHR 1 82792 1.20785E-5 41396 0 1.66273E-5
7-17369626-AG-A p.Ala168fs frameshift AHR 1 82848 1.20703E-5 41424 0 NA
7-17369629-T-A p.Ala168Ala synonymous AHR 1 82864 1.2068E-5 41432 0 1.07823E-4
7-17369641-T-G p.Arg172Arg synonymous AHR 1 82898 1.2063E-5 41449 0 3.99026E-6
7-17369654-G-C p.Ala177Pro missense AHR 2 82930 2.41167E-5 41465 0 3.1902E-5
7-17369660-A-C p.Asn179His missense AHR 3 82934 3.61733E-5 41467 0 3.31664E-5
7-17369664-C-T p.Pro180Leu missense AHR 1 82940 1.20569E-5 41470 0 NA
7-17369699-G-GAAGCCACTGGTCTCCCCCAGACA c.574_574+1insAAGCCACTGGTCTCCCCCAGACA splice_donor AHR 2 82850 2.414E-5 41425 1 NA
7-17369699-G-GAAGCCACTGGTCTCCCCCAGACAGTA c.574_574+1insAAGCCACTGGTCTCCCCCAGACAGTA splice_donor AHR 2 82850 2.414E-5 41425 1 NA
7-17370374-C-T c.575-6C>T splice_region AHR 1 81738 1.22342E-5 40869 0 4.36137E-6
7-17370376-A-G c.575-4A>G splice_region AHR 1 81696 1.22405E-5 40848 0 NA
7-17370377-C-T c.575-3C>T splice_region AHR 1 81646 1.2248E-5 40823 0 NA
7-17370393-C-T p.Leu196Leu synonymous AHR 1 82988 1.20499E-5 41494 0 NA
7-17370400-A-G p.Thr199Ala missense AHR 1 83012 1.20465E-5 41506 0 3.99795E-6
7-17370406-G-A p.Val201Ile missense AHR 1 83038 1.20427E-5 41519 0 NA
7-17370410-G-A p.Cys202Tyr missense AHR 2 83106 2.40657E-5 41553 0 NA
7-17370410-G-T p.Cys202Phe missense AHR 1 83106 1.20328E-5 41553 0 NA
7-17370414-T-C p.Tyr203Tyr synonymous AHR 1 83102 1.20334E-5 41551 0 NA
7-17370425-A-G p.Gln207Arg missense AHR 1 83088 1.20354E-5 41544 0 NA
7-17370442-T-G p.Ser213Ala missense AHR 1 83124 1.20302E-5 41562 0 8.27472E-6
7-17370445-C-G p.Pro214Ala missense AHR 10 83122 1.20305E-4 41561 0 9.56877E-5
7-17370456-G-C p.Glu217Asp missense AHR 1 83130 1.20294E-5 41565 0 3.98479E-6
7-17370486-G-A p.Leu227Leu synonymous AHR 1 83134 1.20288E-5 41567 0 NA
7-17370495-T-C p.Asn230Asn synonymous AHR 5 83134 6.01439E-5 41567 0 4.39339E-5
7-17370503-G-A p.Gly233Asp missense AHR 1 83134 1.20288E-5 41567 0 3.9968E-6
7-17370511-G-GCAA c.705+1_705+2insCAA splice_donor AHR 1 83094 1.20346E-5 41547 0 NA
7-17370511-G-GCAATGAATTTCCAAGGGAAGT c.705+1_705+2insCAATGAATTTCCAAGGGAAGT splice_donor AHR 2 83094 2.40691E-5 41547 1 NA
7-17370514-A-G c.705+4A>G splice_region AHR 1 83076 1.20372E-5 41538 0 NA
7-17370516-G-A c.705+6G>A splice_region AHR 2 83066 2.40772E-5 41533 0 NA
7-17373539-A-G p.Met237Val missense AHR 1 82544 1.21148E-5 41272 0 6.25E-4
7-17373587-G-A p.Gly253Arg missense AHR 1 83128 1.20296E-5 41564 0 NA
7-17373589-G-A p.Gly253Gly synonymous AHR 4 83130 4.81174E-5 41565 0 0.00151057
7-17373592-A-G p.Lys254Lys synonymous AHR 1 83146 1.2027E-5 41573 0 NA
7-17373595-T-TG p.Ser257fs frameshift AHR 1 83160 1.2025E-5 41580 0 NA
7-17373601-A-T p.Ser257Ser synonymous AHR 60 83168 7.21431E-4 41584 0 0.00200803
7-17373633-T-C p.Ile268Thr missense AHR 1 83222 1.20161E-5 41611 0 NA
7-17373651-C-T p.Pro274Leu missense AHR 1 83250 1.2012E-5 41625 0 NA
7-17373654-C-T p.Pro275Leu missense AHR 37 83256 4.44412E-4 41628 0 0.00151057
7-17373659-A-G p.Ile277Val missense AHR 2 83254 2.40229E-5 41627 0 1.91302E-4
7-17373662-C-A p.Leu278Ile missense AHR 1 83250 1.2012E-5 41625 0 NA
7-17373670-C-G p.Ile280Met missense AHR 1 83252 1.20117E-5 41626 0 NA
7-17373671-C-T p.Arg281Trp missense AHR 6 83250 7.20721E-5 41625 0 5.03525E-4
7-17373672-G-A p.Arg281Gln missense AHR 1 83240 1.20135E-5 41620 0 4.12201E-5
7-17373681-A-C p.Asn284Thr missense AHR 1 83242 1.20132E-5 41621 0 NA
7-17373688-C-T p.Ile286Ile synonymous AHR 2 83246 2.40252E-5 41623 0 NA
7-17373725-G-A p.Gly299Ser missense AHR 1 83158 1.20253E-5 41579 0 NA
7-17373738-A-AAGGAAGAATT c.908_908+1insAGGAAGAATT splice_donor AHR 2 83106 2.40657E-5 41553 1 NA
7-17374518-ATTGTT-A p.Val307fs frameshift AHR 2 82558 2.42254E-5 41279 0 NA
7-17374521-G-A p.Val307Ile missense AHR 5 82696 6.04624E-5 41348 0 3.18939E-5
7-17374534-C-T p.Thr311Ile missense AHR 1 82798 1.20776E-5 41399 0 NA
7-17374539-G-A p.Ala313Thr missense AHR 2 82816 2.41499E-5 41408 0 NA
7-17374552-C-T p.Thr317Met missense AHR 1 82820 1.20744E-5 41410 0 3.98603E-6
7-17374553-G-A p.Thr317Thr synonymous AHR 10 82834 1.20723E-4 41417 0 2.47136E-4
7-17374559-C-T p.Gly319Gly synonymous AHR 2 82840 2.41429E-5 41420 0 NA
7-17374604-C-T p.Ala334Ala synonymous AHR 2 82648 2.4199E-5 41324 0 1.65131E-5
7-17374605-G-C p.Glu335Gln missense AHR 1 82638 1.2101E-5 41319 0 3.98953E-6
7-17374609-C-T p.Ser336Phe missense AHR 1 82598 1.21068E-5 41299 0 NA
7-17374615-T-C p.Ile338Thr missense AHR 1 82544 1.21148E-5 41272 0 3.18776E-5
7-17374618-G-A p.Arg339Gln missense+splice_region AHR 1 82494 1.21221E-5 41247 0 NA
7-17375304-C-T p.Arg352Trp missense AHR 1 82986 1.20502E-5 41493 0 6.38325E-5
7-17375320-A-G p.Asn357Ser missense AHR 4 83128 4.81186E-5 41564 0 0.00151057
7-17375325-C-G p.Arg359Gly missense AHR 1 83142 1.20276E-5 41571 0 NA
7-17375326-G-A p.Arg359Gln missense AHR 15 83142 1.80414E-4 41571 0 2.23129E-4
7-17375327-A-T p.Arg359Arg synonymous AHR 4 83156 4.81024E-5 41578 0 1.42276E-4
7-17375352-C-T p.Arg368Cys missense AHR 2 83216 2.40338E-5 41608 0 NA
7-17375353-G-A p.Arg368His missense AHR 1 83220 1.20163E-5 41610 0 1.00006E-5
7-17375384-T-C p.Tyr378Tyr synonymous AHR 1 83192 1.20204E-5 41596 0 3.18512E-5
7-17375403-C-CAATAAATTTTAAA p.Pro385fs frameshift AHR 1 83164 1.20244E-5 41582 0 NA
7-17375408-A-AACAGATGAGGAAGGAACAGAGCATTTACGAAAACGAAAT c.1160_1160+1insAGATGAGGAAGGAACAGAGCATTTACGAAAACGAAATAC splice_donor AHR 2 83148 2.40535E-5 41574 1 NA
7-17375408-A-G p.Leu386Leu splice_region+synonymous AHR 1 83150 1.20265E-5 41575 0 NA
7-17375411-G-A c.1160+1G>A splice_donor AHR 2 83128 2.40593E-5 41564 0 NA
7-17375416-C-T c.1160+6C>T splice_region AHR 1 83100 1.20337E-5 41550 0 NA
7-17378637-A-G p.Arg396Arg synonymous AHR 111 83314 0.00133231 41657 1 0.00165605
7-17378641-C-A p.Arg398Arg synonymous AHR 48 83320 5.76092E-4 41660 0 3.58357E-4
7-17378648-C-G p.Thr400Arg missense AHR 1 83344 1.19985E-5 41672 0 5.03525E-4
7-17378649-G-A p.Thr400Thr synonymous AHR 3 83342 3.59963E-5 41671 0 3.29658E-5
7-17378681-C-G p.Ala411Gly missense AHR 1 83368 1.1995E-5 41684 0 NA
7-17378688-G-A p.Leu413Leu synonymous AHR 2 83368 2.399E-5 41684 0 3.18552E-5
7-17378691-T-C p.Tyr414Tyr synonymous AHR 1 83366 1.19953E-5 41683 0 3.97662E-6
7-17378692-G-A p.Glu415Lys missense AHR 1 83364 1.19956E-5 41682 0 3.97659E-6
7-17378696-C-G p.Ala416Gly missense AHR 1 83358 1.19964E-5 41679 0 NA
7-17378710-C-T p.Pro421Ser missense AHR 2 83362 2.39917E-5 41681 0 NA
7-17378716-A-G p.Ile423Val missense AHR 1 83360 1.19962E-5 41680 0 7.95279E-6
7-17378727-C-G p.Pro426Pro synonymous AHR 1 83354 1.1997E-5 41677 0 8.23683E-6
7-17378731-C-T p.Pro428Ser missense AHR 3 83360 3.59885E-5 41680 0 8.23682E-5
7-17378733-A-G p.Pro428Pro synonymous AHR 1 83362 1.19959E-5 41681 0 NA
7-17378741-C-T p.Thr431Ile missense AHR 4 83362 4.79835E-5 41681 0 6.36983E-5
7-17378759-G-C p.Gly437Ala missense AHR 11 83360 1.31958E-4 41680 0 6.37146E-5
7-17378761-A-G p.Lys438Glu missense AHR 1 83358 1.19964E-5 41679 0 3.18512E-5
7-17378775-C-T p.Thr442Thr synonymous AHR 2 83358 2.39929E-5 41679 0 1.6475E-5
7-17378777-C-T p.Thr443Ile missense AHR 1 83358 1.19964E-5 41679 0 NA
7-17378779-T-C p.Ser444Pro missense AHR 2 83358 2.39929E-5 41679 0 NA
7-17378785-C-G p.Leu446Val missense AHR 1 83356 1.19967E-5 41678 0 NA
7-17378805-T-C p.Asn452Asn synonymous AHR 2 83338 2.39987E-5 41669 0 2.47097E-5
7-17378838-A-G p.Gln463Gln synonymous AHR 1 83316 1.20025E-5 41658 0 NA
7-17378840-A-T p.Asp464Val missense AHR 1 83314 1.20028E-5 41657 0 NA
7-17378844-G-T p.Glu465Asp missense AHR 2 83312 2.40061E-5 41656 0 3.18451E-5
7-17378858-A-G p.Tyr470Cys missense AHR 14 83304 1.68059E-4 41652 0 0.001875
7-17378860-C-T p.Pro471Ser missense AHR 11 83306 1.32043E-4 41653 0 2.54777E-4
7-17378875-T-G p.Ser476Ala missense AHR 1 83278 1.2008E-5 41639 0 NA
7-17378876-C-T p.Ser476Leu missense AHR 2 83278 2.40159E-5 41639 0 2.47101E-5
7-17378889-T-A p.Pro480Pro synonymous AHR 25 83250 3.003E-4 41625 0 7.75576E-4
7-17378901-C-T p.Asn484Asn synonymous AHR 3 83230 3.60447E-5 41615 0 9.55292E-5
7-17378904-T-G p.Phe485Leu missense AHR 25 83228 3.0038E-4 41614 0 7.00458E-4
7-17378908-A-G p.Asn487Asp missense AHR 31 83230 3.72462E-4 41615 0 0.00172979
7-17378909-A-G p.Asn487Ser missense AHR 3 83228 3.60456E-5 41614 0 8.2371E-6
7-17378910-C-T p.Asn487Asn synonymous AHR 1 83224 1.20158E-5 41612 0 3.57987E-5
7-17378914-T-C p.Ser489Pro missense AHR 3 83248 3.60369E-5 41624 0 1.64742E-5
7-17378917-A-G p.Met490Val missense AHR 402 83242 0.00482929 41621 7 0.030715
7-17378918-T-A p.Met490Lys missense AHR 1 83238 1.20137E-5 41619 0 1.64745E-5
7-17378919-G-C p.Met490Ile missense AHR 6 83238 7.20825E-5 41619 0 0.00100705
7-17378928-CAGA-C p.Arg494del disruptive_inframe_deletion AHR 20 83242 2.40263E-4 41621 0 5.73175E-4
7-17378929-A-G p.Arg494Gly missense AHR 1 83252 1.20117E-5 41626 0 NA
7-17378935-T-G p.Trp496Gly missense AHR 4 83256 4.80446E-5 41628 0 3.18451E-5
7-17378947-A-G p.Thr500Ala missense AHR 1 83290 1.20062E-5 41645 0 3.97747E-6
7-17378948-C-G p.Thr500Ser missense AHR 2 83296 2.40108E-5 41648 0 1.64753E-5
7-17378955-G-C p.Pro502Pro synonymous AHR 3 83298 3.60153E-5 41649 0 6.3678E-5
7-17378956-A-G p.Met503Val missense AHR 7 83296 8.40377E-5 41648 0 6.36902E-5
7-17378960-G-A p.Gly504Glu missense AHR 1 83300 1.20048E-5 41650 0 NA
7-17378976-G-A p.Leu509Leu synonymous AHR 1 83304 1.20042E-5 41652 0 NA
7-17378982-T-G p.His511Gln missense AHR 1 83304 1.20042E-5 41652 0 NA
7-17378984-A-G p.Glu512Gly missense AHR 1 83312 1.20031E-5 41656 0 NA
7-17378987-AAATT-GTCTC p.GlnIle513ArgLeu missense AHR 1 83308 1.20036E-5 41654 0 NA
7-17378990-T-C p.Ile514Thr missense AHR 1 83304 1.20042E-5 41652 0 3.29549E-5
7-17378998-C-T p.Pro517Ser missense AHR 105 83300 0.0012605 41650 1 0.00248392
7-17378998-C-G p.Pro517Ala missense AHR 1 83300 1.20048E-5 41650 0 NA
7-17379008-T-G p.Val520Gly missense AHR 1 83304 1.20042E-5 41652 0 NA
7-17379014-C-T p.Ser522Leu missense AHR 11 83294 1.32062E-4 41647 0 6.25E-4
7-17379027-T-C p.Gly526Gly synonymous AHR 1 83272 1.20088E-5 41636 0 3.97722E-6
7-17379064-TTG-T p.Tyr540fs frameshift AHR 1 83214 1.20172E-5 41607 0 NA
7-17379069-C-CACATGCTGCAGATG p.Ser541fs frameshift AHR 1 83196 1.20198E-5 41598 0 NA
7-17379097-T-G p.Phe550Val missense AHR 2 83110 2.40645E-5 41555 0 7.96819E-6
7-17379098-T-C p.Phe550Ser missense AHR 71 83098 8.54413E-4 41549 0 6.25E-4
7-17379105-C-T p.Asp552Asp synonymous AHR 3 83090 3.61054E-5 41545 0 4.13702E-5
7-17379108-C-A p.Ile553Ile synonymous AHR 7 83098 8.42379E-5 41549 0 1.19646E-5
7-17379110-G-A p.Arg554Lys missense AHR 13255 82978 0.159741 41489 1576 0.215384
7-17379112-C-T p.His555Tyr missense AHR 1 83072 1.20378E-5 41536 0 8.28734E-6
7-17379115-A-G p.Met556Val missense AHR 1 83072 1.20378E-5 41536 0 NA
7-17379116-T-C p.Met556Thr missense AHR 1 83062 1.20392E-5 41531 0 NA
7-17379122-A-C p.Asn558Thr missense AHR 1 83048 1.20412E-5 41524 0 3.99071E-6
7-17379130-T-C p.Phe561Leu missense AHR 2 82992 2.40987E-5 41496 0 NA
7-17379138-A-C p.Arg563Ser missense AHR 1 82972 1.20523E-5 41486 0 3.9896E-6
7-17379149-C-G p.Ser567Cys missense AHR 1 82950 1.20555E-5 41475 0 1.65884E-5
7-17379149-C-A p.Ser567Tyr missense AHR 2 82950 2.41109E-5 41475 1 NA
7-17379157-G-A p.Val570Ile missense AHR 1235 82946 0.0148892 41473 35 0.0413306
7-17379157-G-T p.Val570Phe missense AHR 1 82954 1.20549E-5 41477 0 NA
7-17379173-T-C p.Ile575Thr missense AHR 3 82988 3.61498E-5 41494 0 1.07448E-4
7-17379181-A-T p.Thr578Ser missense AHR 1 83054 1.20404E-5 41527 0 1.9895E-5
7-17379182-C-T p.Thr578Met missense AHR 2 83054 2.40807E-5 41527 0 8.26419E-6
7-17379183-G-A p.Thr578Thr synonymous AHR 2 83060 2.4079E-5 41530 0 0.00100705
7-17379186-T-C p.Asp579Asp synonymous AHR 5 83080 6.0183E-5 41540 0 3.97867E-6
7-17379192-C-T p.Ile581Ile synonymous AHR 1 83108 1.20325E-5 41554 0 5.03525E-4
7-17379197-C-T p.Thr583Met missense AHR 13 83122 1.56397E-4 41561 0 2.86569E-4
7-17379198-G-A p.Thr583Thr synonymous AHR 2 83134 2.40575E-5 41567 0 9.55292E-5
7-17379217-A-C p.Ser590Arg missense AHR 1 83204 1.20187E-5 41602 0 NA
7-17379224-C-G p.Ser592Cys missense AHR 1 83222 1.20161E-5 41611 0 8.24402E-6
7-17379245-A-G p.Tyr599Cys missense AHR 1 83234 1.20143E-5 41617 0 6.36943E-5
7-17379269-T-C p.Leu607Pro missense AHR 5 83260 6.00528E-5 41630 0 1.11418E-4
7-17379271-A-C p.Asn608His missense AHR 1 83260 1.20106E-5 41630 0 NA
7-17379274-T-C p.Ser609Pro missense AHR 3 83260 3.60317E-5 41630 0 1.64783E-5
7-17379307-G-C p.Glu620Gln missense AHR 1 83252 1.20117E-5 41626 0 NA
7-17379321-A-G p.Gln624Gln synonymous AHR 1 83256 1.20111E-5 41628 0 NA
7-17379333-G-A p.Lys628Lys synonymous AHR 2 83262 2.40206E-5 41631 0 NA
7-17379335-AAGT-A p.Val632del disruptive_inframe_deletion AHR 2 83266 2.40194E-5 41633 0 8.23818E-6
7-17379344-T-C p.Val632Ala missense AHR 1 83268 1.20094E-5 41634 0 3.97829E-6
7-17379351-A-G p.Pro634Pro synonymous AHR 1 83262 1.20103E-5 41631 0 3.97722E-6
7-17379363-G-A p.Leu638Leu synonymous AHR 1 83278 1.2008E-5 41639 0 3.29495E-5
7-17379385-C-G p.Gln646Glu missense AHR 1 83296 1.20054E-5 41648 0 3.97665E-6
7-17379416-C-G p.Ser656Cys missense AHR 2 83306 2.40079E-5 41653 0 3.18129E-5
7-17379426-C-T p.Phe659Phe synonymous AHR 4 83304 4.80169E-5 41652 0 9.55231E-5
7-17379427-G-A p.Val660Met missense AHR 40 83302 4.80181E-4 41651 0 0.00162462
7-17379435-C-T p.Phe662Phe synonymous AHR 3 83306 3.60118E-5 41653 0 1.19299E-5
7-17379437-A-G p.Asn663Ser missense AHR 20 83310 2.40067E-4 41655 1 5.73139E-4
7-17379439-T-G p.Cys664Gly missense AHR 1 83312 1.20031E-5 41656 0 NA
7-17379441-T-C p.Cys664Cys synonymous AHR 1 83314 1.20028E-5 41657 0 NA
7-17379445-C-A p.Gln666Lys missense AHR 2 83314 2.40056E-5 41657 0 9.55353E-5
7-17379450-A-C p.Gln667His missense AHR 2 83302 2.4009E-5 41651 0 NA
7-17379459-A-G p.Gln670Gln synonymous AHR 5 83308 6.00182E-5 41654 0 1.19316E-5
7-17379464-A-G p.Tyr672Cys missense AHR 2 83314 2.40056E-5 41657 0 NA
7-17379469-G-A p.Val674Ile missense AHR 1 83318 1.20022E-5 41659 0 3.18552E-5
7-17379484-C-T p.His679Tyr missense AHR 1 83296 1.20054E-5 41648 0 NA
7-17379491-T-A p.Ile681Asn missense AHR 3 83304 3.60127E-5 41652 0 8.239E-6
7-17379505-C-T p.Pro686Ser missense AHR 1 83306 1.20039E-5 41653 0 NA
7-17379524-A-G p.Asp692Gly missense AHR 1 83304 1.20042E-5 41652 0 NA
7-17379533-C-T p.Pro695Leu missense AHR 1 83310 1.20034E-5 41655 0 NA
7-17379536-A-G p.Tyr696Cys missense AHR 1 83310 1.20034E-5 41655 0 3.1837E-5
7-17379555-C-T p.Ser702Ser synonymous AHR 1 83302 1.20045E-5 41651 0 8.23886E-6
7-17379564-G-T p.Gln705His missense AHR 1 83300 1.20048E-5 41650 0 8.23818E-6
7-17379575-C-T p.Pro709Leu missense AHR 1 83314 1.20028E-5 41657 0 NA
7-17379579-A-G p.Gln710Gln synonymous AHR 1 83314 1.20028E-5 41657 0 3.97678E-6
7-17379586-A-C p.Lys713Gln missense AHR 2 83308 2.40073E-5 41654 0 8.23832E-6
7-17379589-T-G p.Cys714Gly missense AHR 1 83312 1.20031E-5 41656 0 1.64769E-5
7-17379593-C-T p.Thr715Ile missense AHR 2 83316 2.4005E-5 41658 0 1.19304E-5
7-17379594-A-C p.Thr715Thr synonymous AHR 2 83316 2.4005E-5 41658 0 NA
7-17379599-T-A p.Leu717Gln missense AHR 11 83326 1.32012E-4 41663 0 0.0040282
7-17379607-C-T p.Pro720Ser missense AHR 2 83318 2.40044E-5 41659 0 NA
7-17379608-C-G p.Pro720Arg missense AHR 1 83324 1.20013E-5 41662 0 1.64772E-5
7-17379612-G-A p.Met721Ile missense AHR 1 83322 1.20016E-5 41661 0 3.18715E-5
7-17379632-C-T p.Pro728Leu missense AHR 1 83328 1.20008E-5 41664 0 NA
7-17379633-A-G p.Pro728Pro synonymous AHR 4 83334 4.79996E-5 41667 0 3.18593E-5
7-17379653-T-C p.Leu735Ser missense AHR 3 83350 3.59928E-5 41675 0 6.25E-4
7-17379690-C-A p.Asn747Lys missense AHR 2 83360 2.39923E-5 41680 0 NA
7-17379696-G-C p.Lys749Asn missense AHR 1 83370 1.19947E-5 41685 0 NA
7-17379720-C-A p.Ala757Ala synonymous AHR 20 83360 2.39923E-4 41680 0 3.50631E-4
7-17379724-A-G p.Ile759Val missense AHR 2 83356 2.39935E-5 41678 0 3.3E-5
7-17379727-A-C p.Thr760Pro missense AHR 1 83358 1.19964E-5 41679 0 NA
7-17379742-T-G p.Tyr765Asp missense AHR 1 83346 1.19982E-5 41673 0 3.97839E-6
7-17379745-G-A p.Ala766Thr missense AHR 2 83352 2.39946E-5 41676 0 NA
7-17379750-G-A p.Gly767Gly synonymous AHR 1 83348 1.19979E-5 41674 0 3.97978E-6
7-17379751-G-T p.Ala768Ser missense AHR 1 83348 1.19979E-5 41674 0 6.37064E-5
7-17379753-C-T p.Ala768Ala synonymous AHR 1 83348 1.19979E-5 41674 0 NA
7-17379753-C-G p.Ala768Ala synonymous AHR 3 83348 3.59937E-5 41674 0 8.26228E-6
7-17379754-G-A p.Val769Met missense AHR 2 83334 2.39998E-5 41667 0 4.9586E-5
7-17379759-G-A p.Ser770Ser synonymous AHR 3 83354 3.59911E-5 41677 0 4.38083E-5
7-17379759-G-C p.Ser770Ser synonymous AHR 1 83354 1.1997E-5 41677 0 3.18552E-5
7-17379761-T-C p.Met771Thr missense AHR 2 83348 2.39958E-5 41674 0 9.92113E-5
7-17379766-C-G p.Gln773Glu missense AHR 9 83354 1.07973E-4 41677 0 4.96261E-5
7-17379768-G-A p.Gln773Gln synonymous AHR 5 83342 5.99938E-5 41671 0 5.18122E-5
7-17379780-A-G p.Glu777Glu synonymous AHR 1 83342 1.19988E-5 41671 0 NA
7-17379780-A-C p.Glu777Asp missense AHR 2 83342 2.39975E-5 41671 0 NA
7-17379791-C-A p.Thr781Asn missense AHR 2 83326 2.40021E-5 41663 0 8.28803E-6
7-17379795-C-T p.His782His synonymous AHR 13 83318 1.56029E-4 41659 0 5.99176E-5
7-17379796-G-A p.Val783Met missense AHR 37 83326 4.44039E-4 41663 1 5.09652E-4
7-17379802-C-G p.Gln785Glu missense AHR 1 83324 1.20013E-5 41662 0 8.30303E-6
7-17379805-A-G p.Met786Val missense AHR 206 83294 0.00247317 41647 1 0.00271748
7-17379815-A-G p.Asn789Ser missense AHR 2 83292 2.40119E-5 41646 0 4.01268E-6
7-17379816-T-C p.Asn789Asn synonymous AHR 1 83286 1.20068E-5 41643 0 NA
7-17379821-T-G p.Val791Gly missense AHR 14 83262 1.68144E-4 41631 0 2.22859E-4
7-17379826-C-T p.Pro793Ser missense AHR 2 83222 2.40321E-5 41611 0 NA
7-17379847-A-T p.Asn800Tyr missense AHR 1 83028 1.20441E-5 41514 0 NA
7-17379857-G-A c.2403+5G>A splice_region AHR 1 82740 1.20861E-5 41370 0 7.00317E-5
7-17379859-G-A c.2403+7G>A splice_region AHR 1 82644 1.21001E-5 41322 0 5.7341E-5
7-17382545-T-G p.Phe802Val missense+splice_region AHR 2 83208 2.40361E-5 41604 0 3.18471E-5
7-17382559-T-A p.Val806Val synonymous AHR 1 83246 1.20126E-5 41623 0 3.18532E-5
7-17382569-A-G p.Thr810Ala missense AHR 1 83256 1.20111E-5 41628 0 3.18471E-5
7-17382587-A-T p.Asn816Tyr missense AHR 1 83266 1.20097E-5 41633 0 NA
7-17382609-C-T p.Thr823Ile missense AHR 1 83262 1.20103E-5 41631 0 4.11916E-5
7-17382629-C-T p.Leu830Phe missense AHR 1 83264 1.201E-5 41632 0 NA
7-17382632-C-A p.His831Asn missense AHR 1 83268 1.20094E-5 41634 0 3.18512E-5
7-17382639-C-T p.Pro833Leu missense AHR 1 83266 1.20097E-5 41633 0 6.58946E-5
7-17382665-T-A p.Leu842Met missense AHR 2 83276 2.40165E-5 41638 0 8.23696E-6
7-17382675-G-C p.Ser845Thr missense AHR 1 83280 1.20077E-5 41640 0 NA
7-17382688-A-G p.Ter849Ter stop_retained AHR 1 83276 1.20083E-5 41638 0 NA
7-17383477-T-C c.*789T>C splice_region AHR 1 44704 2.23694E-5 22352 0 6.39468E-5
7-17383479-TTGCTATG-T c.*789+6_*789+12delTATGTGC splice_region AHR 1 44702 2.23704E-5 22351 0 NA
7-17385776-A-G c.*1691A>G splice_region AHR 1 35546 2.81326E-5 17773 0 NA