"Supplementary Table S1, Missense singe nucleotide mutations not present in dbSNP or 1000 genomes" Gene ID RefSeq ID Exon Base change Amino acid change A4GNT NM_016161 exon3 c.C653A p.A218D ABCB4 NM_000443 exon18 c.A2254C p.N752H ABCB5 NM_178559 exon14 c.T1435C p.F479L ALDH7A1 NM_001182 exon15 c.G1406A p.R469H ANK3 NM_020987 exon43 c.A13109T p.H4370L ANKRD17 NM_198889 exon24 c.A3812G p.K1271R ATR NM_001184 exon4 c.T632C p.M211T BPI NM_001725 exon6 c.G646A p.E216K C14orf39 NM_174978 exon2 c.G7A p.D3N C3orf17 NM_015412 exon4 c.G397A p.E133K C3orf33 NM_173657 exon5 c.G350A p.S117N C6orf146 NM_173563 exon7 c.T1020G p.S340R CACNA1E NM_000721 exon1 c.A211T p.I71F CCDC141 NM_173648 exon10 c.A1521C p.Q507H CCDC144NL NM_001004306 exon4 c.C606A p.H202Q CCDC18 NM_206886 exon9 c.A1328T p.K443I CCDC50 NM_178335 exon7 c.T995C p.M332T CEP152 NM_014985 exon20 c.C3313G p.L1105V CEP63 NM_025180 exon15 c.C1952T p.S651L CMYA5 NM_153610 exon2 c.A569G p.D190G COQ7 NM_001190983 exon3 c.T143A p.M48K CPA3 NM_001870 exon6 c.C512T "p.T171M," CPXCR1 NM_033048 exon3 c.A8C p.Y3S CR1L NM_175710 exon5 c.G788T p.G263V DBT NM_001918 exon6 c.T724C p.S242P DNAH2 NM_020877 exon77 c.A11987C p.K3996T DOCK4 NM_014705 exon9 c.C758T p.P253L EIF2A NM_032025 exon4 c.C290G p.T97S EME1 NM_152463 exon2 c.A207C p.E69D ERO1LB NM_019891 exon11 c.A740C p.Y247S FAM82B NM_016033 exon4 c.G382C p.V128L FAM90A1 NM_018088 exon6 c.C326A p.P109Q FANCL NM_001114636 exon8 c.A685G p.T229A FOXP1 NM_032682 exon16 c.T1356G p.I452M GFM1 NM_024996 exon5 c.G643A p.V215I GPR112 NM_153834 exon6 c.T5371C p.F1791L HLTF NM_003071 exon10 c.T1132A p.S378T HLTF NM_003071 exon10 c.T1132A p.S378T HPS4 NM_022081 exon9 c.A686G p.E229G HSPA4L NM_014278 exon17 c.G2054A p.G685D IFT80 NM_001190242 exon15 c.A1345T p.T449S IGSF10 NM_178822 exon3 c.T448G p.Y150D LCP2 NM_005565 exon9 c.A644G p.N215S LILRB3 NM_006864 exon3 c.C181G p.H61D LRRC31 NM_024727 exon7 c.G1134C p.L378F LTBP1 NM_001166264 exon1 c.C44G p.P15R LXN NM_020169 exon2 c.A158G p.H53R MACF1 NM_012090 exon17 c.G1814A p.R605Q MAP7D3 NM_024597 exon4 c.G347A p.R116Q MAP7D3 NM_024597 exon4 c.G347A p.R116Q MAP7D3 NM_024597 exon4 c.G347A p.R116Q MCCC1 NM_020166 exon13 c.A1391C p.H464P MCF2L2 NM_015078 exon28 c.T3044C p.M1015T MED12L NM_053002 exon25 c.G3629A p.R1210Q MELK NM_014791 exon3 c.T92C p.I31T MFN1 NM_033540 exon14 c.C1568G p.P523R MTPN NM_145808 exon2 c.A170G p.K57R MTRNR2L1 NM_001190452 exon1 c.C35T p.S12L NAALADL2 NM_207015 exon3 c.T581C p.M194T NBPF10 NM_001039703 exon74 c.G9340C p.V3114L NBPF10 NM_001039703 exon74 c.T9335G p.L3112W NCOA3 NM_181659 exon18 c.A3353C p.Q1118P NCOR1 NM_001190440 exon4 c.G571A p.E191K NEB NM_001164508 exon150 c.C22122G p.D7374E NEK11 NM_024800 exon15 c.A1463T p.E488V NGRN NM_001033088 exon3 c.G289C p.E97Q NRK NM_198465 exon12 c.G1072A p.V358M NRK NM_198465 exon12 c.G1072A p.V358M ODZ4 NM_001098816 exon34 c.G7840A p.V2614M OR11G2 NM_001005503 exon1 c.C44T p.P15L OR11G2 NM_001005503 exon1 c.G146A p.G49D OR2T33 NM_001004695 exon1 c.T145C p.W49R OR4C3 NM_001004702 exon1 c.A96C p.Q32H OR4C3 NM_001004702 exon1 c.T112G p.F38V OR8U1 NM_001005204 exon1 c.C58T p.H20Y OTC NM_000531 exon2 c.A137G p.K46R OTOL1 NM_001080440 exon4 c.A1409C p.E470A P2RY13 NM_176894 exon2 c.C536T p.T179M PL-5283 NM_001130929 exon3 c.C119T p.A40V PPEF2 NM_006239 exon12 c.A1375G p.T459A PRIM2 NM_000947 exon10 c.T929A p.V310D PYGO1 NM_015617 exon3 c.C709A p.P237T RBM33 NM_053043 exon5 c.A344C p.E115A RNASE13 NM_001012264 exon2 c.C338T p.S113F SEC22C NM_032970 exon5 c.G544A p.E182K SERPINI2 NM_006217 exon3 c.A443G p.E148G SLC25A5 NM_001152 exon2 c.T332G p.L111R SLC25A5 NM_001152 exon2 c.T332G p.L111R SMG1 NM_015092 exon57 c.C9974T p.A3325V SRCAP NM_006662 exon26 c.A5705G p.E1902G SRRD NM_001013694 exon3 c.G295A p.A99T STK4 NM_006282 exon8 c.G934A p.V312M SYNJ1 NM_203446 exon4 c.A337G p.M113V TAB3 NM_152787 exon6 c.T1180C p.W394R TAF7L NM_024885 exon1 c.T101C p.L34P TAF7L NM_024885 exon1 c.T101C p.L34P TCF12 NM_207040 exon4 c.A440G p.N147S TF NM_001063 exon15 c.C1765T p.P589S TM4SF20 NM_024795 exon3 c.C265T p.L89F TMEM22 NM_001097599 exon2 c.A1199G p.K400R TMIGD1 NM_206832 exon4 c.G634A p.V212I TOPBP1 NM_007027 exon14 c.C2450T p.S817L USP31 NM_020718 exon6 c.A1154G p.E385G UTRN NM_007124 exon30 c.A4247G p.Q1416R VN1R4 NM_173857 exon1 c.C155T p.A52V WDR27 NM_182552 exon4 c.C340T p.P114S ZBBX NM_024687 exon9 c.A480T p.K160N ZMAT1 NM_001011657 exon7 c.A1607G p.Q536R ZMAT1 NM_001011657 exon7 c.A1607G p.Q536R ZNF420 NM_144689 exon5 c.C782G p.T261S ZNF439 NM_152262 exon3 c.G944T p.R315I ZNF620 NM_175888 exon5 c.G1065C p.Q355H ZNF677 NM_182609 exon5 c.A1502G p.N501S ZNF717 NM_001128223 exon5 c.A1742G p.H581R ZNF717 NM_001128223 exon5 c.A2155G p.R719G ZNF717 NM_001128223 exon5 c.G2389C p.D797H