View de novo Variants from PubMed ID: 23260136
Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.
| Gene ID | Gene Symbol | Chr | Position | Effect | Ref | Alt | Coding Change | Protein Change | Validation | iFish Probability | iFish Prediction | 1 | 11420457 | intergenic | C | T | Sanger | 1 | 19315132 | intergenic | G | A | Sanger |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AutG55057 | AIM1L | 1 | 26656475 | intronic | T | C | Sanger | 1 | 37027399 | intergenic | T | G | Sequenom | 1 | 40829056 | intergenic | A | C | Sequenom |
| AutG59269 | HIVEP3 | 1 | 41976741 | exonic | G | A | Sequenom | ||||
| AutG440585 | FAM183A | 1 | 43614555 | intronic | C | T | Sanger and Sequenom | ||||
| AutG4352 | MPL | 1 | 43817033 | intronic | G | C | Sanger and Sequenom | ||||
| AutG163747 | C1orf177 | 1 | 55275779 | intronic | C | T | Sequenom | ||||
| AutG4919 | ROR1 | 1 | 64299853 | intronic | C | T | Sanger and Sequenom | ||||
| AutG3953 | LEPR | 1 | 66077433 | intronic | G | T | Sanger and Sequenom | 1 | 72896714 | intergenic | G | A | Sequenom | 1 | 83154514 | intergenic | C | T | Sequenom | 1 | 83489118 | intergenic | A | G | Sanger and Sequenom | 1 | 90767561 | intergenic | G | A | Sanger and Sequenom | 1 | 99026163 | intergenic | T | A | Sequenom | 1 | 99887850 | intergenic | T | G | Sequenom | 1 | 102115942 | intergenic | A | C | Sequenom |
| AutG100289211 | LOC100289211 | 1 | 146888184 | ncRNA_intronic | A | G | Sanger and Sequenom | 1 | 156055316 | intergenic | A | G | Sanger and Sequenom | 1 | 156488732 | intergenic | T | C | Sequenom |
| AutG844 | CASQ1 | 1 | 160164024 | intronic | C | T | Sanger | ||||
| AutG9019 | MPZL1 | 1 | 167691899 | intronic | G | T | Sequenom | 1 | 171567574 | intergenic | G | A | Sanger and Sequenom | 1 | 176220677 | intergenic | C | G | Sequenom | 1 | 178548602 | intergenic | G | T | Sanger and Sequenom | 1 | 187170945 | intergenic | A | G | Sanger and Sequenom | 1 | 187487610 | intergenic | C | T | Sequenom | 1 | 190775899 | intergenic | G | C | Sanger and Sequenom | 1 | 199300637 | intergenic | C | A | Sanger and Sequenom | 1 | 199763025 | intergenic | A | G | Sanger and Sequenom |
| AutG2104 | ESRRG | 1 | 217030943 | intronic | G | C | Sequenom | 1 | 230106543 | intergenic | A | T | Sanger and Sequenom |
| AutG100303453 | TSNAX-DISC1 | 1 | 231774213 | ncRNA_intronic | T | C | Sequenom | 1 | 232950886 | intergenic | A | C | Sequenom | KMO | 1 | 241757651 | UTR3 | T | C | Sequenom | 1 | 248397148 | intergenic | G | A | Sanger and Sequenom |
| AutG22982 | DIP2C | 10 | 673309 | intronic | C | T | Sanger and Sequenom | 10 | 3072997 | intergenic | C | T | Sanger and Sequenom | 10 | 4598203 | intergenic | C | T | Sanger and Sequenom |
| AutG100132159 | LOC100132159 | 10 | 5564238 | ncRNA_exonic | T | C | Sanger and Sequenom | 10 | 17770021 | intergenic | T | C | Sanger and Sequenom |
| AutG84898 | PLXDC2 | 10 | 20508633 | intronic | A | T | Sequenom | 10 | 37710945 | intergenic | A | T | Sanger and Sequenom | 10 | 45982785 | intronic | G | A | Sanger and Sequenom |
| AutG5592 | PRKG1 | 10 | 53628989 | intronic | T | C | Sequenom | CTNNA3 | 10 | 68702199 | intronic | G | C | Sanger and Sequenom |
| AutG83938 | C10orf11 | 10 | 77830945 | intronic | C | T | Sequenom | ||||
| AutG643414 | LIPK | 10 | 90492540 | intronic | G | A | Sanger and Sequenom | ||||
| AutG728558 | LOC728558 | 10 | 97622262 | ncRNA_intronic | T | C | Sanger and Sequenom | ||||
| AutG79591 | C10orf76 | 10 | 103608372 | intronic | C | T | Sanger and Sequenom | 10 | 110060986 | intergenic | G | A | Sanger and Sequenom | 10 | 110568347 | intergenic | C | T | Sanger and Sequenom | 10 | 121371956 | intergenic | T | C | Sanger |
| AutG55717 | WDR11 | 10 | 122636301 | intronic | A | G | Sanger and Sequenom | 10 | 124878683 | intergenic | G | A | Sanger and Sequenom |
| AutG282974 | STK32C | 10 | 134025920 | intronic | A | T | Sanger and Sequenom | 11 | 5179890 | intergenic | A | G | Sequenom | 11 | 6307195 | intergenic | C | T | Sequenom |
| AutG322 | APBB1 | 11 | 6422668 | intronic 5' splice | G | A | Sanger and Sequenom | ||||
| AutG374378 | GALNTL4 | 11 | 11509603 | intronic | T | C | Sanger and Sequenom | ||||
| AutG7003 | TEAD1 | 11 | 12819714 | intronic | T | G | Sanger and Sequenom | 11 | 15793507 | intergenic | G | A | Sequenom | 11 | 27180974 | intergenic | A | G | Sanger and Sequenom | 11 | 31936046 | intergenic | G | A | Sanger and Sequenom | 11 | 42061119 | intergenic | C | T | Sequenom | 11 | 54818468 | intergenic | A | G | Sanger and Sequenom | 11 | 54818501 | intergenic | A | G | Sanger and Sequenom | 11 | 55239513 | intergenic | C | T | Sequenom | 11 | 55693993 | intergenic | A | T | Sanger and Sequenom |
| AutG64232 | MS4A5 | 11 | 60213221 | intronic | G | C | Sequenom | ||||
| AutG220002 | CYBASC3 | 11 | 61120862 | UTR5 | C | T | Sequenom | 11 | 71103739 | intergenic | A | C | Sequenom | 11 | 72165713 | intergenic | C | T | Sequenom | 11 | 87813203 | intergenic | C | T | Sanger and Sequenom | 11 | 91695896 | intergenic | T | C | Sequenom |
| AutG23052 | ENDOD1 | 11 | 94843165 | intronic | C | T | Sequenom | 11 | 98744556 | intergenic | T | C | Sanger and Sequenom | 11 | 106240319 | intergenic | C | G | Sanger and Sequenom |
| AutG25833 | POU2F3 | 11 | 120148899 | intronic | C | T | Sanger and Sequenom | ||||
| AutG25833 | POU2F3 | 11 | 120150577 | intronic | A | G | Sequenom | ||||
| AutG9638 | FEZ1 | 11 | 125353018 | intronic | A | G | Sanger and Sequenom | ||||
| AutG84623 | KIRREL3 | 11 | 126293121 | downstream | A | G | Sanger and Sequenom | ||||
| AutG399979 | SNX19 | 11 | 130753886 | intronic | G | A | Sanger and Sequenom | ||||
| AutG50863 | NTM | 11 | 132158232 | intronic | A | C | Sanger and Sequenom | ||||
| AutG4978 | OPCML | 11 | 133255038 | intronic | C | T | Sanger and Sequenom | 12 | 7913531 | intergenic | A | G | Sanger and Sequenom |
| AutG2984 | GUCY2C | 12 | 14811276 | intronic | A | G | Sanger and Sequenom | ||||
| AutG5288 | PIK3C2G | 12 | 18510220 | intronic | C | T | Sanger and Sequenom | ||||
| AutG5139 | PDE3A | 12 | 20809161 | intronic | C | A | Sequenom | ||||
| AutG6660 | SOX5 | 12 | 24573279 | intronic | G | A | Sanger and Sequenom | 12 | 27007721 | intergenic | C | T | Sanger | 12 | 34787156 | intergenic | G | A | Sanger and Sequenom | 12 | 38320669 | intergenic | C | G | Sanger and Sequenom | 12 | 48847756 | intergenic | T | C | Sequenom |
| AutG112 | ADCY6 | 12 | 49173602 | intronic | C | T | Sanger and Sequenom | 12 | 52413974 | intergenic | A | T | Sanger and Sequenom | 12 | 58565717 | intergenic | G | T | Sanger and Sequenom | 12 | 61329557 | intergenic | G | A | Sequenom | 12 | 67874040 | intergenic | C | T | Sequenom | 12 | 77345824 | intergenic | T | G | Sequenom | 12 | 77788439 | intergenic | G | C | Sequenom | 12 | 77788440 | intergenic | C | A | Sequenom | 12 | 85184868 | intergenic | G | A | Sanger and Sequenom |
| AutG84125 | LRRIQ1 | 12 | 85605029 | intronic | T | C | Sanger and Sequenom | 12 | 93050834 | intergenic | C | T | Sanger and Sequenom |
| AutG643339 | LOC643339 | 12 | 93657211 | ncRNA_intronic | A | C | Sequenom | ||||
| AutG7112 | TMPO | 12 | 98935928 | intronic | A | T | Sanger and Sequenom | 12 | 126210829 | intergenic | G | A | Sanger and Sequenom | 12 | 128495380 | intergenic | T | C | Sanger and Sequenom |
| AutG92293 | TMEM132C | 12 | 128807885 | intronic | C | T | Sanger | ||||
| AutG121256 | TMEM132D | 12 | 129581773 | intronic | C | T | Sanger and Sequenom | ||||
| AutG121256 | TMEM132D | 12 | 129763345 | intronic | C | T | Sanger and Sequenom | ||||
| AutG255967 | PAN3 | 13 | 28816615 | intronic | A | G | Sanger and Sequenom | 13 | 39203633 | intergenic | T | C | Sequenom | 13 | 39827231 | intergenic | G | T | Sanger and Sequenom |
| AutG8600 | TNFSF11 | 13 | 43174596 | intronic | A | T | Sanger and Sequenom | ||||
| AutG283514 | SIAH3 | 13 | 46387344 | intronic | G | A | Sanger | ||||
| AutG1102 | RCBTB2 | 13 | 49093193 | intronic | A | G | Sanger and Sequenom | ||||
| AutG8847 | DLEU2 | 13 | 50585011 | ncRNA_intronic | C | G | Sequenom | 13 | 60108300 | intergenic | C | A | Sequenom | 13 | 71205120 | intergenic | T | C | Sanger and Sequenom |
| AutG22894 | DIS3 | 13 | 73344237 | intronic | G | A | Sanger and Sequenom | ||||
| AutG10464 | PIBF1 | 13 | 73429507 | intronic | G | C | Sanger and Sequenom | 13 | 77317908 | intergenic | A | G | Sanger and Sequenom | 13 | 82415375 | intergenic | C | T | Sanger and Sequenom | 13 | 90862384 | intergenic | T | C | Sequenom | 13 | 107731349 | intergenic | C | G | Sanger and Sequenom |
| AutG728215 | FAM155A | 13 | 108303699 | intronic | C | T | Sequenom | 14 | 21218841 | intergenic | C | T | Sanger and Sequenom |
| AutG64067 | NPAS3 | 14 | 33486057 | intronic | C | A | Sequenom | ||||
| AutG64067 | NPAS3 | 14 | 34079788 | intronic | A | T | Sanger and Sequenom | 14 | 34518927 | intergenic | C | T | Sanger and Sequenom | 14 | 39019414 | intergenic | G | T | Sanger and Sequenom | 14 | 40267555 | intergenic | A | G | Sanger and Sequenom | 14 | 49229746 | intergenic | A | G | Sanger and Sequenom | RAD51B | 14 | 68661216 | intronic | C | T | Sanger and Sequenom |
| AutG8110 | DPF3 | 14 | 73307938 | intronic | G | C | Sanger and Sequenom | 14 | 73928739 | intergenic | G | A | Sanger and Sequenom | 14 | 73930159 | intergenic | T | A | Sanger and Sequenom | AK055876 | 14 | 73930294 | ncRNA_exonic | G | A | Sanger and Sequenom | LOC100628307 | 14 | 80914911 | ncRNA_intronic | C | T | Sanger and Sequenom | 14 | 86679029 | intergenic | G | C | Sanger and Sequenom |
| AutG1112 | FOXN3 | 14 | 89853769 | intronic | A | C | Sanger and Sequenom | ||||
| AutG5700 | PSMC1 | 14 | 90733677 | intronic | T | A | Sanger | 14 | 94867212 | intergenic | G | C | Sanger and Sequenom | 14 | 95954489 | intergenic | A | C | Sequenom | 14 | 98449323 | intergenic | G | A | Sequenom |
| AutG9895 | TECPR2 | 14 | 102913783 | intronic | C | G | Sequenom | 15 | 24730800 | intergenic | C | A | Sequenom |
| AutG2567 | GABRG3 | 15 | 27388483 | intronic | C | T | Sanger | 15 | 36837433 | intergenic | T | A | Sanger and Sequenom |
| AutG11261 | CHP | 15 | 41535518 | intronic | C | G | Sanger and Sequenom | ||||
| AutG6557 | SLC12A1 | 15 | 48560743 | intronic | G | A | Sanger and Sequenom | ||||
| AutG102 | ADAM10 | 15 | 58903342 | intronic | A | G | Sanger and Sequenom | ||||
| AutG6642 | SNX1 | 15 | 64435633 | UTR3 | C | G | Sanger and Sequenom | 15 | 69815592 | intergenic | C | T | Sanger and Sequenom | 15 | 88062115 | intergenic | G | A | Sequenom | 15 | 89042292 | intergenic | C | G | Sanger and Sequenom | 15 | 95135360 | intergenic | T | C | Sanger and Sequenom | 15 | 96219835 | intergenic | A | G | Sequenom | 15 | 97278616 | intergenic | C | G | Sanger and Sequenom |
| AutG4205 | MEF2A | 15 | 100197931 | intronic | A | T | Sanger and Sequenom | ||||
| AutG81889 | FAHD1 | 16 | 1883253 | intronic | C | A | Sanger and Sequenom | ||||
| AutG81889 | FAHD1 | 16 | 1883254 | intronic | C | A | Sanger and Sequenom | ||||
| AutG29066 | ZC3H7A | 16 | 11845394 | intronic | A | G | Sequenom | ||||
| AutG729993 | SHISA9 | 16 | 13219054 | intronic | A | C | Sanger and Sequenom | 16 | 22420925 | intergenic | C | T | Sanger and Sequenom | 16 | 31791007 | intergenic | A | G | Sanger and Sequenom | 16 | 35174654 | intergenic | G | C | Sanger and Sequenom | CNEP1R1 | 16 | 50068228 | intronic | C | A | Sequenom | 16 | 52433187 | intergenic | T | C | Sanger and Sequenom | 16 | 61632762 | intergenic | C | T | Sanger | 16 | 63592658 | intergenic | T | C | Sequenom |
| AutG342372 | PKD1L3 | 16 | 71965113 | intronic | G | A | Sanger and Sequenom | ||||
| AutG51741 | WWOX | 16 | 79149664 | intronic | A | C | Sanger and Sequenom | 16 | 79622779 | intergenic | C | T | Sanger and Sequenom |
| AutG146754 | DNAH2 | 17 | 7627294 | intronic | A | G | Sequenom | ||||
| AutG9912 | ARHGAP44 | 17 | 12852467 | exonic | A | T | Sanger and Sequenom | ASIC2 | 17 | 32292577 | intronic | A | G | Sanger and Sequenom |
| AutG31 | ACACA | 17 | 35457118 | intronic | C | T | Sanger and Sequenom | ||||
| AutG84961 | FBXL20 | 17 | 37460701 | intronic | G | A | Sequenom | 17 | 42659977 | intergenic | A | C | Sanger and Sequenom | 17 | 46071412 | intergenic | C | T | Sequenom | 17 | 46180533 | intergenic | A | C | Sanger | 17 | 51724647 | intergenic | C | G | Sanger and Sequenom | 17 | 53742908 | intergenic | A | T | Sanger and Sequenom | 17 | 55157062 | intergenic | G | A | Sanger and Sequenom |
| AutG124540 | MSI2 | 17 | 55428700 | intronic | G | A | Sanger and Sequenom | ||||
| AutG124535 | HSF5 | 17 | 56513306 | intronic | T | G | Sequenom | ||||
| AutG22901 | ARSG | 17 | 66303921 | intronic | C | T | Sanger and Sequenom | ||||
| AutG146713 | RBFOX3 | 17 | 77385959 | intronic | C | A | Sanger and Sequenom | 18 | 99312 | intergenic | G | A | Sequenom |
| AutG57045 | TWSG1 | 18 | 9340985 | intronic | G | A | Sanger and Sequenom | ||||
| AutG11031 | RAB31 | 18 | 9795026 | intronic | G | A | Sanger and Sequenom | ||||
| AutG11031 | RAB31 | 18 | 9822605 | intronic | C | T | Sanger and Sequenom | ||||
| AutG56907 | SPIRE1 | 18 | 12540399 | intronic | G | A | Sequenom | ANKRD20A5P | 18 | 14216251 | ncRNA_intronic | A | T | Sequenom |
| AutG6093 | ROCK1 | 18 | 18566956 | exonic | T | C | Sequenom | ||||
| AutG125488 | TTC39C | 18 | 21635210 | intronic | G | A | Sanger and Sequenom | 18 | 30414209 | intergenic | A | T | Sanger and Sequenom | 18 | 31100190 | intergenic | A | G | Sanger and Sequenom |
| AutG8715 | NOL4 | 18 | 31567743 | intronic | A | G | Sanger and Sequenom | ||||
| AutG8715 | NOL4 | 18 | 31791701 | intronic | A | G | Sanger and Sequenom | ||||
| AutG56853 | CELF4 | 18 | 35094643 | intronic | G | A | Sanger and Sequenom | ||||
| AutG647946 | LOC647946 | 18 | 36897149 | ncRNA_intronic | A | T | Sanger and Sequenom | 18 | 38286248 | intergenic | T | C | Sanger and Sequenom | 18 | 45088528 | intergenic | C | T | Sanger and Sequenom |
| AutG6925 | TCF4 | 18 | 52889987 | UTR3 | C | T | Sanger and Sequenom | ||||
| AutG55205 | ZNF532 | 18 | 56585010 | intronic | C | A | Sanger and Sequenom | 18 | 60132109 | intergenic | T | A | Sanger and Sequenom | 18 | 60716620 | intergenic | T | A | Sanger and Sequenom | 18 | 65688495 | intergenic | G | A | Sanger and Sequenom | 18 | 65936700 | intergenic | T | C | Sanger and Sequenom |
| AutG79839 | CCDC102B | 18 | 66635186 | intronic | C | G | Sanger and Sequenom | ||||
| AutG9658 | ZNF516 | 18 | 74197921 | intronic | G | C | Sanger and Sequenom | 18 | 76760522 | intergenic | T | C | Sanger and Sequenom |
| AutG374868 | ATP9B | 18 | 76882805 | intronic | A | G | Sequenom | ||||
| AutG4772 | NFATC1 | 18 | 77191333 | intronic | G | A | Sanger and Sequenom | 18 | 77596764 | intergenic | C | T | Sanger |
| AutG84939 | MUM1 | 19 | 1359502 | intronic | T | C | Sanger and Sequenom | 19 | 7891519 | intergenic | G | A | Sanger | 19 | 35728881 | intergenic | G | C | Sanger and Sequenom | 19 | 42318644 | intergenic | T | C | Sanger and Sequenom |
| AutG10055 | SAE1 | 19 | 47709838 | intronic | G | A | Sequenom | ||||
| AutG84215 | ZNF541 | 19 | 48059056 | exonic | A | G | Sanger and Sequenom | 0.1025 | neutral | ||
| AutG11338 | U2AF2 | 19 | 56178953 | intronic | C | G | Sequenom | 2 | 295878 | intergenic | A | G | Sanger and Sequenom | 2 | 519481 | intergenic | G | T | Sanger and Sequenom | 2 | 33907513 | intergenic | G | T | Sanger and Sequenom | 2 | 36040833 | intergenic | C | T | Sequenom | 2 | 39878591 | intergenic | C | G | Sanger and Sequenom | 2 | 41448453 | intergenic | C | G | Sanger and Sequenom | 2 | 52580359 | intergenic | A | T | Sanger and Sequenom | 2 | 58231223 | intergenic | T | A | Sanger and Sequenom |
| AutG7444 | VRK2 | 2 | 58288501 | intronic | T | A | Sanger and Sequenom | ||||
| AutG400955 | FLJ30838 | 2 | 58923308 | ncRNA_intronic | T | C | Sanger and Sequenom | ||||
| AutG400955 | FLJ30838 | 2 | 59145178 | ncRNA_intronic | A | G | Sequenom | 2 | 60972231 | intergenic | C | A | Sanger and Sequenom |
| AutG9736 | USP34 | 2 | 61451537 | intronic | T | G | Sanger and Sequenom | ||||
| AutG339807 | LOC339807 | 2 | 64844094 | downstream | G | A | Sanger and Sequenom | 2 | 75459187 | intergenic | A | G | Sanger and Sequenom |
| AutG84141 | FAM176A | 2 | 75732065 | intronic | G | A | Sequenom | ||||
| AutG80059 | LRRTM4 | 2 | 77624540 | intronic | T | G | Sanger and Sequenom | 2 | 78074544 | intergenic | A | G | Sanger and Sequenom |
| AutG1496 | CTNNA2 | 2 | 80847447 | intronic | C | T | Sequenom | 2 | 81033107 | intergenic | G | A | Sanger and Sequenom | 2 | 82490490 | intergenic | C | T | Sequenom | 2 | 83289032 | intergenic | C | T | Sanger and Sequenom | 2 | 88936111 | intergenic | C | A | Sanger and Sequenom |
| AutG3899 | AFF3 | 2 | 100265100 | intronic | A | G | Sequenom | 2 | 102703516 | intergenic | C | T | Sanger and Sequenom | 2 | 103451690 | intergenic | C | T | Sanger and Sequenom |
| AutG129684 | CNTNAP5 | 2 | 125647237 | intronic | T | C | Sequenom | ||||
| AutG344148 | NCKAP5 | 2 | 133976129 | intronic | A | C | Sanger and Sequenom | 2 | 139007683 | intergenic | A | C | Sanger and Sequenom | 2 | 144545125 | intergenic | T | C | Sanger and Sequenom | 2 | 171654840 | intergenic | C | T | Sanger and Sequenom | 2 | 174683395 | intergenic | G | A | Sanger and Sequenom |
| AutG285025 | CCDC141 | 2 | 179833587 | intronic | A | G | Sequenom | 2 | 182123575 | intergenic | A | C | Sanger and Sequenom | 2 | 182998846 | intergenic | A | G | Sanger and Sequenom | 2 | 191490359 | intergenic | A | G | Sequenom |
| AutG5334 | PLCL1 | 2 | 198733032 | intronic | T | C | Sanger and Sequenom | ||||
| AutG5334 | PLCL1 | 2 | 198953607 | exonic | A | G | Sanger | 2 | 208205954 | intergenic | A | C | Sequenom | 2 | 209892173 | intergenic | T | C | Sanger and Sequenom | 2 | 211700046 | intergenic | T | C | Sequenom |
| AutG100130451 | LOC100130451 | 2 | 214140664 | downstream | G | A | Sanger and Sequenom | ||||
| AutG646324 | LOC646324 | 2 | 216555189 | ncRNA_intronic | T | C | Sanger and Sequenom | ||||
| AutG55022 | PID1 | 2 | 230134173 | intronic | A | G | Sanger and Sequenom | ||||
| AutG92737 | DNER | 2 | 230425406 | intronic | T | C | Sanger and Sequenom | ||||
| AutG92737 | DNER | 2 | 230528243 | intronic | T | G | Sanger and Sequenom | 2 | 233207808 | intergenic | G | A | Sanger and Sequenom |
| AutG116987 | AGAP1 | 2 | 236984962 | intronic | G | A | Sanger and Sequenom | 20 | 4308616 | intergenic | G | A | Sanger and Sequenom |
| AutG23236 | PLCB1 | 20 | 8337232 | intronic | C | T | Sequenom | ||||
| AutG140733 | MACROD2 | 20 | 15567973 | intronic | C | T | Sanger | 20 | 38053649 | intergenic | T | C | Sanger and Sequenom | 20 | 38202108 | intergenic | T | G | Sanger and Sequenom | 20 | 38439922 | intergenic | C | A | Sanger and Sequenom |
| AutG64405 | CDH22 | 20 | 44880608 | upstream | C | A | Sequenom | ||||
| AutG3745 | KCNB1 | 20 | 48084666 | intronic | A | G | Sanger and Sequenom | 20 | 53861038 | intergenic | C | T | Sanger and Sequenom | 20 | 56463325 | intergenic | C | T | Sanger and Sequenom | 20 | 56491406 | intergenic | G | C | Sanger and Sequenom | 20 | 58967940 | intergenic | C | T | Sanger and Sequenom |
| AutG80331 | DNAJC5 | 20 | 62561664 | intronic | G | T | Sanger and Sequenom | 21 | 14606656 | intergenic | T | C | Sanger and Sequenom |
| AutG351 | APP | 21 | 27457755 | intronic | A | T | Sanger and Sequenom | 21 | 29871210 | intergenic | C | T | Sequenom | 21 | 31325472 | intergenic | G | A | Sequenom | 21 | 31641231 | intergenic | G | A | Sanger and Sequenom | 21 | 31762747 | intergenic | G | A | Sequenom | 21 | 35671904 | intergenic | G | A | Sanger and Sequenom | 21 | 36860172 | intergenic | G | A | Sanger and Sequenom | 21 | 43611227 | intergenic | C | T | Sanger and Sequenom |
| AutG5152 | PDE9A | 21 | 44144183 | intronic | G | T | Sanger and Sequenom | ||||
| AutG637 | BID | 22 | 18241016 | intronic | C | T | Sanger and Sequenom | 22 | 27674701 | intergenic | C | T | Sequenom | 22 | 36828242 | intergenic | G | C | Sequenom |
| AutG57026 | PDXP | 22 | 38060759 | intronic | G | A | Sanger and Sequenom | ||||
| AutG23467 | NPTXR | 22 | 39216799 | UTR3 | T | C | Sanger and Sequenom | 3 | 5341811 | intergenic | A | C | Sanger and Sequenom |
| AutG56852 | RAD18 | 3 | 8983216 | exonic | G | C | Sanger and Sequenom | 0.0141 | neutral | TAMM41 | 3 | 11865102 | intronic | A | G | Sequenom | 3 | 22677378 | intergenic | T | A | Sanger and Sequenom | 3 | 23683610 | intergenic | C | G | Sanger and Sequenom | 3 | 24838342 | intergenic | T | C | Sanger and Sequenom |
| AutG152206 | CCDC13 | 3 | 42781953 | intronic | T | C | Sanger and Sequenom | 3 | 47407733 | intergenic | T | A | Sanger and Sequenom |
| AutG54756 | IL17RD | 3 | 57133512 | intronic | A | G | Sanger and Sequenom | 3 | 70190662 | intergenic | T | C | Sanger and Sequenom |
| AutG27086 | FOXP1 | 3 | 71344697 | intronic | C | T | Sequenom | 3 | 78195201 | intergenic | G | T | Sanger | 3 | 78450023 | intergenic | A | G | Sanger and Sequenom | 3 | 82018416 | intergenic | T | C | Sanger and Sequenom |
| AutG440970 | LOC440970 | 3 | 84716768 | ncRNA_exonic | T | C | Sanger and Sequenom | 3 | 87085826 | intergenic | C | T | Sanger and Sequenom | 3 | 89994957 | intergenic | G | A | Sanger and Sequenom | 3 | 89994973 | intergenic | T | C | Sanger and Sequenom |
| AutG285220 | EPHA6 | 3 | 96635896 | intronic | G | A | Sequenom | ||||
| AutG285220 | EPHA6 | 3 | 96934280 | intronic | G | T | Sanger and Sequenom | 3 | 99193444 | intergenic | A | G | Sanger and Sequenom | C3orf26 | 3 | 99802819 | intronic | T | C | Sequenom |
| AutG100302640 | LOC100302640 | 3 | 106937261 | ncRNA_intronic | G | A | Sanger and Sequenom | 3 | 109991039 | intergenic | C | G | Sanger and Sequenom |
| AutG131034 | CPNE4 | 3 | 131574033 | intronic | G | T | Sanger and Sequenom | ||||
| AutG66000 | TMEM108 | 3 | 132910706 | intronic | G | A | Sanger and Sequenom | ||||
| AutG51560 | RAB6B | 3 | 133549522 | intronic | G | C | Sanger and Sequenom | 3 | 136799486 | intergenic | C | G | Sequenom | 3 | 148141155 | intergenic | G | C | Sanger and Sequenom |
| AutG7881 | KCNAB1 | 3 | 156069040 | intronic | G | C | Sanger and Sequenom | 3 | 161098738 | intergenic | T | C | Sequenom | 3 | 163391741 | intergenic | G | A | Sanger and Sequenom | 3 | 165645966 | intergenic | C | A | Sanger and Sequenom | 3 | 166468364 | intergenic | T | C | Sanger and Sequenom |
| AutG64778 | FNDC3B | 3 | 172085628 | intronic | C | G | Sanger and Sequenom | ||||
| AutG22871 | NLGN1 | 3 | 173240607 | intronic | G | A | Sequenom | ||||
| AutG22871 | NLGN1 | 3 | 173587491 | intronic | G | A | Sanger and Sequenom | ||||
| AutG22871 | NLGN1 | 3 | 173687596 | intronic | C | T | Sanger | ||||
| AutG254827 | NAALADL2 | 3 | 174935512 | intronic | G | A | Sanger and Sequenom | ||||
| AutG254827 | NAALADL2 | 3 | 174955785 | intronic | A | G | Sequenom | 3 | 177273106 | intergenic | C | T | Sanger and Sequenom |
| AutG170960 | ZNF721 | 4 | 476741 | intronic | C | A | Sanger | ||||
| AutG57732 | ZFYVE28 | 4 | 2296449 | intronic | C | T | Sequenom | 4 | 11483316 | intergenic | A | G | Sanger and Sequenom | 4 | 11675037 | intergenic | C | G | Sanger and Sequenom | 4 | 25747092 | intergenic | G | T | Sanger and Sequenom | 4 | 29559587 | intergenic | A | G | Sanger and Sequenom | 4 | 31353929 | intergenic | C | T | Sequenom | 4 | 37087452 | intergenic | A | C | Sequenom |
| AutG23216 | TBC1D1 | 4 | 37901375 | intronic | A | G | Sequenom | 4 | 43343680 | intergenic | G | C | Sanger and Sequenom | 4 | 43685706 | intergenic | G | T | Sanger and Sequenom | 4 | 44863703 | intergenic | G | A | Sanger and Sequenom |
| AutG23142 | DCUN1D4 | 4 | 52742146 | intronic | A | T | Sequenom | 4 | 56081457 | intergenic | C | G | Sequenom | 4 | 57024256 | intergenic | T | G | Sequenom | 4 | 59964963 | intergenic | C | A | Sanger and Sequenom | 4 | 72552686 | intergenic | A | G | Sequenom | 4 | 72710281 | intergenic | C | G | Sanger | 4 | 78246047 | intergenic | G | A | Sequenom |
| AutG5593 | PRKG2 | 4 | 82074713 | intronic | G | A | Sequenom | 4 | 82506852 | intergenic | A | T | Sanger and Sequenom | 4 | 83058450 | intergenic | G | T | Sanger and Sequenom | 4 | 83953404 | intergenic | C | G | Sanger and Sequenom |
| AutG83478 | ARHGAP24 | 4 | 86588900 | intronic | A | G | Sanger and Sequenom | 4 | 91040619 | intergenic | T | C | Sanger and Sequenom |
| AutG2895 | GRID2 | 4 | 93564738 | intronic | C | T | Sequenom | 4 | 95605988 | intergenic | T | G | Sanger and Sequenom |
| AutG8633 | UNC5C | 4 | 96248588 | intronic | C | A | Sanger and Sequenom | ||||
| AutG493856 | CISD2 | 4 | 103796600 | intronic | G | C | Sanger and Sequenom | SLC9B2 | 4 | 103991061 | intronic | G | A | Sanger and Sequenom |
| AutG93627 | TBCK | 4 | 107080897 | intronic | G | A | Sequenom | 4 | 107565519 | intergenic | G | A | Sequenom | 4 | 112456987 | intergenic | T | C | Sanger | 4 | 113047913 | intergenic | G | A | Sanger and Sequenom | 4 | 121091055 | intergenic | T | C | Sanger and Sequenom |
| AutG55212 | BBS7 | 4 | 122768248 | intronic | T | C | Sanger and Sequenom | 4 | 136143615 | intergenic | T | C | Sequenom |
| AutG23657 | SLC7A11 | 4 | 139160971 | intronic | C | T | Sanger and Sequenom | 4 | 145890911 | intergenic | C | A | Sequenom |
| AutG166785 | MMAA | 4 | 146578882 | UTR3 | G | A | Sanger and Sequenom | 4 | 158546671 | intergenic | A | G | Sanger and Sequenom | 4 | 164592622 | intronic | G | C | Sanger and Sequenom |
| AutG23022 | PALLD | 4 | 169454585 | intronic | T | C | Sequenom | ||||
| AutG8001 | GLRA3 | 4 | 175749919 | exonic | A | G | Sanger and Sequenom | 4 | 180873058 | intergenic | A | G | Sequenom |
| AutG285441 | LOC285441 | 4 | 187214768 | ncRNA_intronic | G | A | Sequenom | 5 | 5796382 | intergenic | T | A | Sanger and Sequenom | 5 | 6150562 | intergenic | T | C | Sanger and Sequenom | 5 | 8109423 | intergenic | C | T | Sanger and Sequenom |
| AutG1501 | CTNND2 | 5 | 11405108 | intronic | G | A | Sanger and Sequenom | ||||
| AutG55100 | WDR70 | 5 | 37744844 | intronic | T | C | Sequenom | ||||
| AutG133584 | EGFLAM | 5 | 38453768 | intronic | A | G | Sequenom | 5 | 74598009 | intergenic | A | G | Sanger and Sequenom |
| AutG10087 | COL4A3BP | 5 | 74793289 | intronic | T | C | Sanger and Sequenom | 5 | 85066651 | intergenic | A | G | Sequenom | 5 | 85664849 | intergenic | G | C | Sanger and Sequenom |
| AutG84059 | GPR98 | 5 | 90449166 | exonic | G | A | Sanger and Sequenom | ||||
| AutG84059 | GPR98 | 5 | 90449224 | intronic | A | T | Sanger and Sequenom | 5 | 91378594 | intergenic | T | C | Sequenom | KIAA0825 | 5 | 93542940 | intronic | T | G | Sanger and Sequenom |
| AutG79772 | MCTP1 | 5 | 94296553 | intronic | G | A | Sanger | ||||
| AutG2241 | FER | 5 | 108251978 | intronic | T | C | Sanger and Sequenom | 5 | 111385829 | intergenic | C | T | Sanger and Sequenom |
| AutG324 | APC | 5 | 112120370 | intronic | G | A | Sanger and Sequenom | ||||
| AutG4163 | MCC | 5 | 112605198 | intronic | T | G | Sanger and Sequenom | 5 | 114271680 | intergenic | C | A | Sanger and Sequenom | 5 | 118007172 | intergenic | T | C | Sanger and Sequenom | 5 | 120959739 | intergenic | G | C | Sanger and Sequenom | 5 | 121913650 | intergenic | T | A | Sequenom |
| AutG1495 | CTNNA1 | 5 | 138180194 | intronic | C | A | Sanger and Sequenom | 5 | 145901235 | intergenic | C | T | Sanger and Sequenom | 5 | 145960928 | intergenic | C | T | Sanger and Sequenom |
| AutG5521 | PPP2R2B | 5 | 146168472 | intronic | A | G | Sequenom | ||||
| AutG7265 | TTC1 | 5 | 159489277 | intronic | G | A | Sanger and Sequenom | 5 | 159963901 | intergenic | A | G | Sanger and Sequenom | 5 | 165787451 | intergenic | A | G | Sanger and Sequenom |
| AutG57451 | ODZ2 | 5 | 167400871 | intronic | A | G | Sequenom | ||||
| AutG23286 | WWC1 | 5 | 167797801 | intronic | C | T | Sanger and Sequenom | PXDC1 | 6 | 3726809 | intronic | A | T | Sanger and Sequenom |
| AutG51439 | FAM8A1 | 6 | 17610527 | UTR3 | A | C | Sequenom | ||||
| AutG55604 | LRRC16A | 6 | 25479874 | UTR5 | A | G | Sanger | 6 | 27763659 | intergenic | C | G | Sanger and Sequenom |
| AutG9753 | ZSCAN12 | 6 | 28347331 | UTR3 | G | A | Sanger | ||||
| AutG2914 | GRM4 | 6 | 34043638 | intronic | G | A | Sanger and Sequenom | ||||
| AutG11329 | STK38 | 6 | 36512111 | intronic | C | A | Sanger and Sequenom | 6 | 43001497 | intergenic | A | T | Sanger and Sequenom |
| AutG8464 | SUPT3H | 6 | 45207626 | intronic | C | T | Sequenom | 6 | 45745675 | intergenic | C | T | Sanger and Sequenom | 6 | 48637061 | intergenic | C | G | Sanger and Sequenom | MLIP | 6 | 54126419 | intronic | T | C | Sanger and Sequenom | 6 | 55298168 | intergenic | G | C | Sequenom | 6 | 63210000 | intergenic | A | G | Sanger and Sequenom | 6 | 78867905 | intergenic | T | A | Sequenom | 6 | 81425856 | intergenic | G | C | Sanger and Sequenom | 6 | 94805672 | intergenic | G | A | Sanger and Sequenom | 6 | 95081113 | intergenic | C | T | Sequenom | 6 | 95230237 | intergenic | T | C | Sanger and Sequenom |
| AutG728012 | LOC728012 | 6 | 100476441 | ncRNA_intronic | G | A | Sanger and Sequenom | 6 | 120865388 | intergenic | T | C | Sanger and Sequenom | 6 | 121245914 | intergenic | C | A | Sanger and Sequenom |
| AutG5796 | PTPRK | 6 | 128296458 | intronic | G | A | Sequenom | 6 | 131656696 | intergenic | G | A | Sequenom |
| AutG54806 | AHI1 | 6 | 135640595 | intronic | G | C | Sanger and Sequenom | 6 | 142134818 | intergenic | A | G | Sanger |
| AutG23345 | SYNE1 | 6 | 152670734 | intronic | G | A | Sanger and Sequenom | 6 | 157023557 | intergenic | G | C | Sanger and Sequenom |
| AutG5071 | PARK2 | 6 | 162117122 | intronic | C | T | Sanger and Sequenom | 6 | 166606304 | intergenic | C | T | Sanger and Sequenom | 6 | 169473130 | intergenic | G | T | Sanger and Sequenom |
| AutG54476 | RNF216 | 7 | 5740026 | intronic | G | A | Sanger and Sequenom | ||||
| AutG30010 | NXPH1 | 7 | 8739033 | intronic | A | G | Sanger | 7 | 14041163 | intergenic | C | T | Sanger and Sequenom |
| AutG9734 | HDAC9 | 7 | 18212148 | intronic | C | T | Sequenom | PPP1R17 | 7 | 31726770 | UTR5 | C | G | Sanger and Sequenom |
| AutG404744 | AAA1 | 7 | 34624235 | ncRNA_intronic | T | C | Sanger | 7 | 42438426 | intergenic | A | T | Sanger and Sequenom | URGCP | 7 | 43937886 | intronic | G | A | Sanger and Sequenom | 7 | 68736637 | intergenic | G | T | Sanger and Sequenom | 7 | 76468893 | intergenic | C | A | Sequenom | 7 | 85220655 | intergenic | T | C | Sanger and Sequenom | 7 | 85480321 | intergenic | T | A | Sanger and Sequenom | 7 | 91383874 | intergenic | A | G | Sanger and Sequenom |
| AutG55610 | CCDC132 | 7 | 92884392 | intronic | A | G | Sanger | 7 | 93565248 | intergenic | C | T | Sanger and Sequenom |
| AutG375612 | LHFPL3 | 7 | 104417325 | intronic | C | T | Sanger and Sequenom | 7 | 108273386 | intergenic | T | A | Sanger | 7 | 108405314 | intergenic | C | T | Sanger and Sequenom | 7 | 113987909 | intergenic | T | C | Sequenom | 7 | 114776335 | intergenic | C | T | Sanger and Sequenom |
| AutG7982 | ST7 | 7 | 116856573 | intronic | G | A | Sanger and Sequenom | 7 | 118649229 | intergenic | C | T | Sanger and Sequenom | 7 | 125104949 | intergenic | T | C | Sanger and Sequenom |
| AutG168850 | ZNF800 | 7 | 127014927 | exonic | A | G | Sanger and Sequenom | ||||
| AutG378805 | FLJ43663 | 7 | 130784694 | ncRNA_intronic | A | G | Sanger and Sequenom | 7 | 135041348 | intergenic | C | T | Sanger |
| AutG135932 | TMEM139 | 7 | 142983945 | UTR3 | C | T | Sanger and Sequenom | ||||
| AutG57541 | ZNF398 | 7 | 148878885 | UTR3 | C | T | Sanger and Sequenom | 8 | 306648 | intergenic | A | G | Sanger and Sequenom |
| AutG64478 | CSMD1 | 8 | 3282096 | intronic | A | G | Sanger and Sequenom | ||||
| AutG64478 | CSMD1 | 8 | 3885234 | intronic | G | T | Sequenom | ||||
| AutG64478 | CSMD1 | 8 | 3905289 | intronic | G | C | Sanger and Sequenom | ||||
| AutG64478 | CSMD1 | 8 | 4128797 | intronic | G | T | Sanger and Sequenom | 8 | 5227922 | intergenic | T | A | Sanger and Sequenom | 8 | 5903506 | intergenic | A | T | Sanger and Sequenom |
| AutG137868 | SGCZ | 8 | 13983619 | intronic | A | T | Sequenom | ||||
| AutG7991 | TUSC3 | 8 | 15616831 | intronic | G | C | Sanger and Sequenom | ||||
| AutG57509 | MTUS1 | 8 | 17565338 | intronic | A | C | Sequenom | 8 | 18179813 | intergenic | T | G | Sanger and Sequenom |
| AutG63898 | SH2D4A | 8 | 19184456 | intronic | G | A | Sanger and Sequenom | 8 | 29825502 | intergenic | C | T | Sanger and Sequenom | 8 | 37232846 | intergenic | G | A | Sanger and Sequenom | 8 | 37838772 | intergenic | T | C | Sequenom |
| AutG59339 | PLEKHA2 | 8 | 38829626 | UTR3 | A | C | Sequenom | 8 | 72344450 | intergenic | G | A | Sanger and Sequenom |
| AutG27067 | STAU2 | 8 | 74592985 | intronic | A | G | Sequenom | 8 | 75713612 | intergenic | A | T | Sanger | 8 | 80514738 | intergenic | G | T | Sanger |
| AutG85444 | LRRCC1 | 8 | 86048097 | exonic | C | T | Sequenom | ||||
| AutG168975 | CNBD1 | 8 | 88205377 | intronic | G | A | Sanger and Sequenom | 8 | 88533559 | intergenic | A | G | Sanger and Sequenom | LOC100616530 | 8 | 96703669 | ncRNA_intronic | C | A | Sanger and Sequenom | LOC100616530 | 8 | 96704612 | ncRNA_intronic | C | G | Sanger and Sequenom | LOC100616530 | 8 | 96705905 | ncRNA_intronic | G | A | Sanger and Sequenom |
| AutG157680 | VPS13B | 8 | 100029718 | intronic | T | G | Sequenom | ||||
| AutG157680 | VPS13B | 8 | 100264851 | intronic | G | T | Sanger and Sequenom | 8 | 102350279 | intergenic | C | A | Sanger and Sequenom | 8 | 106182902 | intergenic | A | G | Sequenom |
| AutG114788 | CSMD3 | 8 | 113447648 | intronic | T | C | Sequenom | ||||
| AutG2131 | EXT1 | 8 | 118938367 | intronic | T | C | Sequenom | ||||
| AutG4856 | NOV | 8 | 120427655 | upstream | C | G | Sanger and Sequenom | 8 | 123267514 | intergenic | G | A | Sequenom | 8 | 134386240 | intergenic | A | T | Sequenom | 8 | 137887066 | intergenic | G | A | Sanger and Sequenom |
| AutG51059 | FAM135B | 8 | 139301204 | intronic | T | C | Sanger and Sequenom | 8 | 143516796 | intergenic | C | T | Sanger and Sequenom |
| AutG1936 | EEF1D | 8 | 144662544 | intronic | C | T | Sequenom | 8 | 144749682 | intergenic | C | T | Sanger and Sequenom |
| AutG5789 | PTPRD | 9 | 9605253 | intronic | A | G | Sanger and Sequenom | ||||
| AutG5789 | PTPRD | 9 | 9674564 | intronic | C | T | Sanger and Sequenom | ||||
| AutG203238 | C9orf93 | 9 | 15930797 | intronic | A | G | Sanger and Sequenom | 9 | 17934643 | intergenic | C | T | Sequenom |
| AutG441389 | FLJ35282 | 9 | 22768115 | ncRNA_intronic | T | G | Sanger and Sequenom | 9 | 26897651 | intergenic | C | A | Sequenom |
| AutG158038 | LINGO2 | 9 | 28359590 | intronic | A | T | Sanger and Sequenom | 9 | 28949137 | intergenic | C | T | Sanger and Sequenom | 9 | 29256360 | intergenic | T | C | Sequenom | 9 | 30288863 | intergenic | T | C | Sanger and Sequenom | 9 | 76547483 | intergenic | A | C | Sanger and Sequenom | 9 | 85574932 | intergenic | A | C | Sanger and Sequenom | 9 | 93029424 | intergenic | G | T | Sanger |
| AutG340515 | LOC340515 | 9 | 93227470 | ncRNA_intronic | A | G | Sequenom | 9 | 95467858 | intergenic | A | C | Sanger and Sequenom | 9 | 99861824 | intergenic | A | G | Sanger and Sequenom | 9 | 99862319 | intergenic | A | T | Sanger and Sequenom | 9 | 100794002 | intergenic | C | T | Sanger and Sequenom |
| AutG203286 | ANKS6 | 9 | 101556844 | intronic | G | A | Sanger and Sequenom | 9 | 105037538 | intergenic | C | T | Sequenom |
| AutG58499 | ZNF462 | 9 | 109726327 | intronic | C | T | Sanger and Sequenom | 9 | 114435478 | intergenic | T | C | Sequenom | 9 | 124169495 | intergenic | A | G | Sanger and Sequenom |
| AutG10783 | NEK6 | 9 | 127034503 | intronic | C | A | Sanger and Sequenom | ||||
| AutG2649 | NR6A1 | 9 | 127402131 | intronic | G | A | Sanger and Sequenom | ||||
| AutG51148 | CERCAM | 9 | 131193745 | intronic | C | T | Sanger and Sequenom | X | 15023544 | intergenic | A | T | Sequenom |
| AutG22866 | CNKSR2 | X | 21551139 | intronic | T | C | Sequenom | ||||
| AutG168400 | DDX53 | X | 23017563 | upstream | T | A | Sanger and Sequenom | ||||
| AutG57477 | SHROOM4 | X | 50348560 | intronic | C | T | Sanger and Sequenom | X | 53148528 | intergenic | C | T | Sequenom | X | 57131966 | intergenic | C | T | Sequenom | X | 62284509 | intergenic | C | T | Sanger and Sequenom | X | 66741808 | intergenic | T | C | Sanger and Sequenom | X | 71385496 | intergenic | A | G | Sanger and Sequenom | X | 75078891 | intergenic | G | A | Sequenom | X | 75116155 | intergenic | A | G | Sequenom |
| AutG1121 | CHM | X | 85247867 | intronic | G | A | Sanger and Sequenom | X | 97039795 | intergenic | A | T | Sequenom | X | 107983618 | intergenic | T | C | Sanger and Sequenom | X | 117948262 | intergenic | C | T | Sequenom | X | 130478129 | intergenic | C | T | Sanger and Sequenom | X | 144282934 | intergenic | G | A | Sanger and Sequenom |
| AutG22829 | NLGN4Y | Y | 16639135 | intronic | C | T | Sanger and Sequenom |