Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-279931-A-G c.*216T>C splice_region FAM150B 2 63906 3.1296E-5 31953 0 NA
2-279951-T-C c.*196A>G splice_region FAM150B 1 69928 1.43004E-5 34964 0 1.27779E-4
2-280154-T-C c.178-2A>G splice_acceptor FAM150B 3 82772 3.62441E-5 41386 0 1.59337E-4
2-280158-A-G c.178-6T>C splice_region FAM150B 1 82764 1.20825E-5 41382 0 4.0307E-6
2-283104-A-G c.177+7T>C splice_region FAM150B 6 82460 7.27626E-5 41230 0 7.73054E-5
2-283116-C-T p.Asp58Asn missense FAM150B 6 82508 7.27202E-5 41254 0 7.18258E-5
2-283118-T-G p.Glu57Ala missense FAM150B 1 82484 1.21236E-5 41242 0 1.21773E-5
2-283141-C-T p.Leu49Leu synonymous FAM150B 4 82530 4.84672E-5 41265 0 4.03659E-6
2-283161-C-T p.Ala43Thr missense FAM150B 2 82506 2.42407E-5 41253 0 3.18573E-5
2-283162-G-A p.Cys42Cys synonymous FAM150B 57 82516 6.90775E-4 41258 1 0.00156101
2-283165-T-C p.Arg41Arg synonymous FAM150B 1 82524 1.21177E-5 41262 0 NA
2-283168-T-G p.Lys40Asn missense FAM150B 1 82512 1.21194E-5 41256 0 NA
2-283171-A-G p.Tyr39Tyr synonymous FAM150B 6 82520 7.27096E-5 41260 0 4.04364E-6
2-283180-G-A c.113-5C>T splice_region FAM150B 182 82478 0.00220665 41239 2 0.00449388
2-285939-T-C n.588A>G splice_region FAM150B 1 55416 1.80453E-5 27708 0 NA
2-286134-G-C p.Thr34Ser missense FAM150B 1 82706 1.2091E-5 41353 0 8.28185E-6
2-286149-T-G p.Asn29Thr missense FAM150B 2 82726 2.41762E-5 41363 0 8.2813E-6
2-286162-T-C p.Arg25Gly missense FAM150B 1 82722 1.20887E-5 41361 0 3.18329E-5
2-286163-A-G p.His24His synonymous FAM150B 1 82724 1.20884E-5 41362 0 1.6562E-5
2-286201-G-A p.Pro12Ser missense+splice_region FAM150B 2 82692 2.41861E-5 41346 0 NA
2-286211-A-G c.32-8T>C splice_region FAM150B 2 82690 2.41867E-5 41345 0 4.01974E-6
2-286298-T-A p.His8Leu missense FAM150B 3 82576 3.63302E-5 41288 0 4.03054E-6
2-286312-G-C p.Asp3Glu missense FAM150B 2 82550 2.42277E-5 41275 0 6.36862E-5
2-286315-C-T p.Lys2Lys synonymous FAM150B 11 82546 1.33259E-4 41273 0 1.04767E-4
2-286320-T-C p.Met1? start_lost FAM150B 1 82534 1.21162E-5 41267 0 NA
2-286330-T-G p.Arg39Arg synonymous FAM150B 1 82500 1.21212E-5 41250 0 8.30634E-6
2-286347-T-A c.-23-4A>T splice_region FAM150B 1 82402 1.21356E-5 41201 0 1.66683E-5
2-286348-T-C c.-23-5A>G splice_region FAM150B 1 82398 1.21362E-5 41199 0 6.37064E-5
2-286349-T-C c.-23-6A>G splice_region FAM150B 1 82390 1.21374E-5 41195 0 8.33583E-6
2-286351-A-G c.-23-8T>C splice_region FAM150B 2 82372 2.42801E-5 41186 0 8.34307E-6
2-287587-T-TCGCTGCTCCGGCGAAGGC p.Arg33_Val34insProSerProGluGlnArg disruptive_inframe_insertion FAM150B 3 75492 3.97393E-5 37746 0 2.08507E-4
2-287589-G-A p.Arg33* stop_gained FAM150B 2 75468 2.65013E-5 37734 0 1.40513E-5
2-287591-T-C p.Gln32Arg missense FAM150B 2 75482 2.64964E-5 37741 0 2.74869E-5
2-287593-C-T p.Glu31Glu synonymous FAM150B 1 75430 1.32573E-5 37715 0 5.44321E-5
2-287597-G-A p.Pro30Leu missense FAM150B 3 75310 3.98353E-5 37655 0 0.00255754
2-287598-GC-TT p.SerPro29SerThr missense FAM150B 24 75286 3.18784E-4 37643 0 NA
2-287598-G-T p.Pro30Thr missense FAM150B 6 75286 7.96961E-5 37643 0 0.00100604
2-287599-C-T p.Ser29Ser synonymous FAM150B 6 75266 7.97173E-5 37633 0 9.89772E-4
2-287601-A-AAGGCCCCAGCCCCGCCGC p.Pro28_Ser29insAlaAlaGlyLeuGlyPro conservative_inframe_insertion FAM150B 1 75258 1.32876E-5 37629 0 3.19428E-5
2-287602-A-AGGCCCC p.Pro28_Ser29insGlyPro disruptive_inframe_insertion FAM150B 1 75258 1.32876E-5 37629 0 1.29584E-5
2-287603-G-A p.Pro28Leu missense FAM150B 3 75250 3.98671E-5 37625 0 0.00287375
2-287604-G-A p.Pro28Ser missense FAM150B 2 75198 2.65965E-5 37599 0 3.19346E-5
2-287605-C-A p.Gly27Gly synonymous FAM150B 1 75232 1.32922E-5 37616 0 NA
2-287606-C-T p.Gly27Glu missense FAM150B 1 75234 1.32919E-5 37617 0 1.22187E-5
2-287608-C-T p.Leu26Leu synonymous FAM150B 12 75168 1.59642E-4 37584 0 4.14911E-4
2-287611-C-T p.Gly25Gly synonymous FAM150B 1 75006 1.33323E-5 37503 0 2.41453E-5
2-287626-G-A p.Arg20Arg synonymous FAM150B 1 74138 1.34884E-5 37069 0 4.80769E-4
2-287627-C-G p.Arg20Pro missense FAM150B 1 74122 1.34913E-5 37061 0 NA
2-287630-C-T p.Gly19Asp missense FAM150B 2 74054 2.70073E-5 37027 0 1.15848E-4
2-287631-C-T p.Gly19Ser missense FAM150B 1 74024 1.35091E-5 37012 0 NA
2-287633-A-G p.Leu18Pro missense FAM150B 1 73962 1.35205E-5 36981 0 2.26193E-4
2-287640-A-T p.Cys16Ser missense FAM150B 2 73594 2.71761E-5 36797 0 7.05766E-5
2-287641-G-A p.Asp15Asp synonymous FAM150B 3 73558 4.07841E-5 36779 0 NA
2-287644-C-G p.Arg14Arg synonymous FAM150B 1 73472 1.36106E-5 36736 0 NA
2-287646-G-T p.Arg14Arg synonymous FAM150B 8 73262 1.09197E-4 36631 0 1.41233E-4
2-287647-C-T p.Gly13Gly synonymous FAM150B 1 73246 1.36526E-5 36623 0 2.34813E-5
2-287650-G-A p.Leu12Leu synonymous FAM150B 1 73154 1.36698E-5 36577 0 NA
2-287654-A-G p.Leu11Pro missense FAM150B 1 73104 1.36791E-5 36552 0 1.17352E-5
2-287657-T-C p.Gln10Arg missense FAM150B 6 73062 8.2122E-5 36531 0 NA
2-287659-C-T p.Leu9Leu synonymous FAM150B 1 72974 1.37035E-5 36487 0 NA
2-287661-G-A p.Leu9Leu synonymous FAM150B 1 72932 1.37114E-5 36466 0 3.20431E-5
2-287662-G-A p.Gly8Gly synonymous FAM150B 1 72884 1.37204E-5 36442 0 3.33088E-4
2-287663-C-G p.Gly8Ala missense FAM150B 5 72882 6.8604E-5 36441 0 1.14262E-5
2-287664-C-T p.Gly8Ser missense FAM150B 1 72870 1.37231E-5 36435 0 NA
2-287666-T-C p.Lys7Arg missense FAM150B 1 72830 1.37306E-5 36415 0 NA
2-287675-G-T p.Ala4Glu missense FAM150B 1 72486 1.37958E-5 36243 0 NA
2-287677-C-A p.Ser3Ser synonymous FAM150B 1 72428 1.38068E-5 36214 0 NA
2-287677-C-G p.Ser3Ser synonymous FAM150B 1 72428 1.38068E-5 36214 0 9.76372E-5
2-287678-G-A p.Ser3Leu missense FAM150B 1 72428 1.38068E-5 36214 0 NA
2-287692-C-T p.Leu48Leu synonymous FAM150B 1 71860 1.39159E-5 35930 0 NA
2-287704-G-C p.Leu44Leu synonymous FAM150B 19 71042 2.67447E-4 35521 0 1.92827E-4
2-287706-G-A p.Leu44Phe missense FAM150B 1 70890 1.41064E-5 35445 0 2.37428E-5
2-287707-T-C p.Glu43Glu synonymous FAM150B 8 70812 1.12975E-4 35406 0 9.70685E-5
2-287709-C-T p.Glu43Lys missense FAM150B 1 70664 1.41515E-5 35332 0 NA
2-287736-C-T p.Gly34Arg missense FAM150B 7 66784 1.04816E-4 33392 0 0.00162338
2-287739-C-A p.Asp33Tyr missense FAM150B 1 66686 1.49957E-5 33343 0 NA
2-287743-C-T p.Pro31Pro synonymous FAM150B 1 65598 1.52444E-5 32799 0 NA
2-287744-G-C p.Pro31Arg missense FAM150B 1 65332 1.53064E-5 32666 0 NA
2-287750-C-G p.Arg29Pro missense FAM150B 3 64356 4.66157E-5 32178 0 NA
2-287762-C-A p.Gly25Val missense FAM150B 3 61212 4.901E-5 30606 0 NA
2-287763-C-A p.Gly25Cys missense FAM150B 2 61340 3.26052E-5 30670 0 NA
2-287768-C-G p.Arg23Pro missense FAM150B 18 60206 2.98974E-4 30103 0 3.91149E-4
2-287771-C-T p.Gly22Asp missense FAM150B 2 59338 3.37052E-5 29669 0 NA
2-287773-GCGCCCCGC-G p.Ala19fs frameshift FAM150B 1 58084 1.72164E-5 29042 0 NA
2-287776-C-T p.Gly20Gly synonymous FAM150B 1 57938 1.72598E-5 28969 0 3.20739E-5
2-287782-C-T p.Ala18Ala synonymous FAM150B 1 56578 1.76747E-5 28289 0 NA
2-287783-G-A p.Ala18Val missense FAM150B 2 55618 3.59596E-5 27809 0 6.41396E-5
2-287800-C-T p.Leu12Leu synonymous FAM150B 3 51994 5.7699E-5 25997 0 4.86381E-5
2-287827-T-C p.Gly3Gly synonymous FAM150B 13 42858 3.03327E-4 21429 0 3.52135E-4
2-287830-G-A p.Arg2Arg synonymous FAM150B 2 41776 4.78744E-5 20888 0 NA
2-287832-G-A p.Arg2Cys missense FAM150B 1 41350 2.41838E-5 20675 0 NA
2-287879-G-A c.-44C>T 5_prime_UTR_premature_start_codon_gain FAM150B 3 32982 9.09587E-5 16491 0 NA
2-287897-G-C c.-57-5C>G splice_region FAM150B 1 31306 3.19428E-5 15653 0 NA
2-288172-G-C c.-217C>G 5_prime_UTR_premature_start_codon_gain FAM150B 1 24230 4.12712E-5 12115 0 NA
2-288241-G-A c.-286C>T 5_prime_UTR_premature_start_codon_gain FAM150B 56 24178 0.00231616 12089 1 0.00257169
2-288260-G-A c.-305C>T 5_prime_UTR_premature_start_codon_gain FAM150B 1 24150 4.14079E-5 12075 0 NA
2-288545-C-A c.-58+8G>T splice_region FAM150B 1 3768 2.65393E-4 1884 0 NA
2-288554-T-C c.-59A>G splice_region FAM150B 2 2652 7.54148E-4 1326 0 3.2111E-5