View Mosaic Variants from PubMed ID: 28867142
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.
Entrez ID | Gene Symbol | Chr | Position | Ref | Alt | iFish Probability | iFish Prediction | Mosaic Detail |
---|---|---|---|---|---|---|---|---|
AutG85452 | CFAP74 | 1 | 1900192 | C | T | 0.0173 | neutral | Detail |
AutG339448 | C1orf174 | 1 | 3806547 | C | T | 0.4511 | neutral | Detail |
AutG55187 | VPS13D | 1 | 12428626 | C | T | Detail | ||
AutG7709 | ZBTB17 | 1 | 16269685 | C | T | 0.0318 | neutral | Detail |
AutG57576 | KIF17 | 1 | 21031010 | G | A | Detail | ||
AutG3925 | STMN1 | 1 | 26228141 | A | G | Detail | ||
AutG5511 | PPP1R8 | 1 | 28169828 | G | A | Detail | ||
AutG7802 | DNALI1 | 1 | 38023331 | A | G | 0.3708 | neutral | Detail |
AutG23499 | MACF1 | 1 | 39784265 | C | T | 0.3202 | neutral | Detail |
AutG23499 | MACF1 | 1 | 39903616 | G | A | Detail | ||
AutG8438 | RAD54L | 1 | 46726433 | G | A | 0.9614 | deleterious | Detail |
AutG731 | C8A | 1 | 57347157 | C | T | Detail | ||
AutG55277 | FGGY | 1 | 60106970 | T | G | 0.007 | neutral | Detail |
AutG23032 | USP33 | 1 | 78163012 | C | T | 0.0906 | neutral | Detail |
AutG9557 | CHD1L | 1 | 146728216 | C | T | 0.056 | neutral | Detail |
AutG55249 | YY1AP1 | 1 | 155630566 | G | C | 0.0929 | neutral | Detail |
AutG4209 | MEF2D | 1 | 156452416 | C | T | 0.9983 | deleterious | Detail |
AutG89886 | SLAMF9 | 1 | 159922117 | C | T | 0.9552 | deleterious | Detail |
AutG59349 | KLHL12 | 1 | 202880289 | C | T | 0.9631 | deleterious | Detail |
AutG26750 | RPS6KC1 | 1 | 213302953 | C | A | 0.1177 | neutral | Detail |
AutG55061 | SUSD4 | 1 | 223465897 | C | T | 0.2137 | neutral | Detail |
AutG84288 | EFCAB2 | 1 | 245250572 | G | T | 0.1287 | neutral | Detail |
AutG5496 | PPM1G | 2 | 27604615 | T | C | 0.9723 | deleterious | Detail |
AutG1329 | COX5B | 2 | 98263555 | G | A | Detail | ||
AutG53353 | LRP1B | 2 | 141291600 | T | C | Detail | ||
AutG55777 | MBD5 | 2 | 149243456 | A | G | Detail | ||
AutG4703 | NEB | 2 | 152543981 | G | A | Detail | ||
AutG29994 | BAZ2B | 2 | 160239207 | G | A | Detail | ||
AutG6326 | SCN2A | 2 | 166211152 | A | T | 0.889 | deleterious | Detail |
AutG8647 | ABCB11 | 2 | 169853212 | T | G | 0.9947 | deleterious | Detail |
AutG7273 | TTN | 2 | 179605302 | G | T | 0.0256 | neutral | Detail |
AutG316 | AOX1 | 2 | 201464413 | C | T | 0.5919 | deleterious | Detail |
AutG79065 | ATG9A | 2 | 220085973 | G | A | 0.8274 | deleterious | Detail |
AutG116255 | MOGAT1 | 2 | 223554125 | T | C | 0.5568 | deleterious | Detail |
AutG1285 | COL4A3 | 2 | 228120751 | G | A | 0.9964 | deleterious | Detail |
AutG11262 | SP140 | 2 | 231103053 | G | T | 0.0166 | neutral | Detail |
AutG547 | KIF1A | 2 | 241724471 | C | T | 0.8586 | deleterious | Detail |
AutG728294 | D2HGDH | 2 | 242684178 | A | G | 0.5374 | deleterious | Detail |
AutG10752 | CHL1 | 3 | 386367 | C | G | 0.0159 | neutral | Detail |
AutG79885 | HDAC11 | 3 | 13522828 | A | T | 0.3631 | neutral | Detail |
AutG152273 | FGD5 | 3 | 14960293 | C | T | Detail | ||
AutG9940 | DLEC1 | 3 | 38105382 | C | A | 0.0718 | neutral | Detail |
AutG9389 | SLC22A14 | 3 | 38349069 | C | T | Detail | ||
AutG6336 | SCN10A | 3 | 38770255 | C | T | Detail | ||
AutG1499 | CTNNB1 | 3 | 41274877 | G | A | 0.9612 | deleterious | Detail |
AutG1232 | CCR3 | 3 | 46307288 | C | T | Detail | ||
AutG4134 | MAP4 | 3 | 47918907 | C | T | Detail | ||
AutG389170 | LEKR1 | 3 | 156570593 | G | A | 0.0581 | neutral | Detail |
AutG151827 | LRRC34 | 3 | 169513985 | T | A | 0.3347 | neutral | Detail |
AutG1962 | EHHADH | 3 | 184910031 | G | A | 0.0727 | neutral | Detail |
AutG9076 | CLDN1 | 3 | 190030680 | A | C | Detail | ||
AutG200958 | MUC20 | 3 | 195456546 | G | C | 0.1354 | neutral | Detail |
AutG1739 | DLG1 | 3 | 197023283 | G | A | Detail | ||
AutG84859 | LRCH3 | 3 | 197562676 | C | T | 0.9817 | deleterious | Detail |
AutG54872 | PIGG | 4 | 499570 | C | T | Detail | ||
AutG5158 | PDE6B | 4 | 652788 | C | T | Detail | ||
AutG683 | BST1 | 4 | 15707209 | C | A | 0.9767 | deleterious | Detail |
AutG27146 | FAM184B | 4 | 17706804 | G | A | 0.0394 | neutral | Detail |
AutG57495 | NWD2 | 4 | 37446620 | C | A | 0.2446 | neutral | Detail |
AutG323 | APBB2 | 4 | 40818170 | C | G | 0.8729 | deleterious | Detail |
AutG166815 | TIGD2 | 4 | 90034383 | G | T | 0.9711 | deleterious | Detail |
AutG22915 | MMRN1 | 4 | 90874301 | C | T | 0.7103 | deleterious | Detail |
AutG1062 | CENPE | 4 | 104066794 | C | T | Detail | ||
AutG54790 | TET2 | 4 | 106180819 | G | T | 0.9332 | deleterious | Detail |
AutG987 | LRBA | 4 | 151749715 | G | T | 0.1394 | neutral | Detail |
AutG2743 | GLRB | 4 | 158091801 | G | A | 0.9857 | deleterious | Detail |
AutG55601 | DDX60 | 4 | 169195105 | C | G | 0.103 | neutral | Detail |
AutG90268 | OTULIN | 5 | 14693136 | G | T | Detail | ||
AutG29102 | DROSHA | 5 | 31406995 | G | A | Detail | ||
AutG23037 | PDZD2 | 5 | 32074487 | G | A | 0.0035 | neutral | Detail |
AutG114899 | C1QTNF3 | 5 | 34043091 | G | A | 0.4003 | neutral | Detail |
AutG5019 | OXCT1 | 5 | 41850175 | T | C | 0.9974 | deleterious | Detail |
AutG4437 | MSH3 | 5 | 80169078 | G | A | 0.6496 | deleterious | Detail |
AutG5066 | PAM | 5 | 102295584 | C | G | 0.995 | deleterious | Detail |
AutG64097 | EPB41L4A | 5 | 111506680 | G | A | Detail | ||
AutG84249 | PSD2 | 5 | 139219740 | C | G | 0.2056 | neutral | Detail |
AutG83697 | SLC4A9 | 5 | 139750705 | G | A | 0.9145 | deleterious | Detail |
AutG3340 | NDST1 | 5 | 149912558 | T | C | 0.9475 | deleterious | Detail |
AutG2566 | GABRG2 | 5 | 161524765 | C | T | 0.8666 | deleterious | Detail |
AutG6586 | SLIT3 | 5 | 168678421 | G | A | Detail | ||
AutG153222 | CREBRF | 5 | 172550144 | A | G | Detail | ||
AutG56940 | DUSP22 | 6 | 345911 | G | C | 0.2232 | neutral | Detail |
AutG7407 | VARS | 6 | 31749930 | C | G | Detail | ||
AutG117283 | IP6K3 | 6 | 33694623 | C | T | Detail | ||
AutG3159 | HMGA1 | 6 | 34208681 | G | A | 0.0969 | neutral | Detail |
AutG340204 | CLPSL1 | 6 | 35755695 | A | G | 0.002 | neutral | Detail |
AutG29964 | PRICKLE4 | 6 | 41751917 | G | C | 0.0223 | neutral | Detail |
AutG647024 | C6orf132 | 6 | 42073489 | C | T | 0.105 | neutral | Detail |
AutG54511 | HMGCLL1 | 6 | 55364076 | G | C | Detail | ||
AutG3617 | IMPG1 | 6 | 76660802 | C | T | Detail | ||
AutG6885 | MAP3K7 | 6 | 91226345 | G | A | 0.868 | deleterious | Detail |
AutG2534 | FYN | 6 | 112015899 | G | A | Detail | ||
AutG135250 | RAET1E | 6 | 150211107 | C | A | 0.143 | neutral | Detail |
AutG389434 | IYD | 6 | 150710567 | G | C | 0.852 | deleterious | Detail |
AutG23345 | SYNE1 | 6 | 152782817 | G | A | 0.754 | deleterious | Detail |
AutG79683 | ZDHHC14 | 6 | 158014147 | C | T | Detail | ||
AutG56995 | TULP4 | 6 | 158735185 | T | C | 0.9965 | deleterious | Detail |
AutG4018 | LPA | 6 | 160998168 | G | A | 0.0495 | neutral | Detail |
AutG7058 | THBS2 | 6 | 169628245 | G | A | Detail | ||
AutG221981 | THSD7A | 7 | 11485770 | G | A | Detail | ||
AutG10457 | GPNMB | 7 | 23296615 | G | A | 0.8101 | deleterious | Detail |
AutG5137 | PDE1C | 7 | 31855578 | G | T | 0.1524 | neutral | Detail |
AutG51314 | NME8 | 7 | 37889860 | A | T | Detail | ||
AutG3092 | HIP1 | 7 | 75177092 | C | T | 0.6824 | deleterious | Detail |
AutG51657 | STYXL1 | 7 | 75625830 | T | C | 0.0201 | neutral | Detail |
AutG1021 | CDK6 | 7 | 92355021 | C | T | Detail | ||
AutG1278 | COL1A2 | 7 | 94042413 | G | C | 0.9998 | deleterious | Detail |
AutG4885 | NPTX2 | 7 | 98256629 | G | T | Detail | ||
AutG7036 | TFR2 | 7 | 100229477 | C | A | 0.6617 | deleterious | Detail |
AutG51412 | ACTL6B | 7 | 100252651 | G | A | Detail | ||
AutG5649 | RELN | 7 | 103130237 | C | T | 0.9949 | deleterious | Detail |
AutG91584 | PLXNA4 | 7 | 131825445 | G | A | 0.9916 | deleterious | Detail |
AutG57189 | KIAA1147 | 7 | 141385372 | G | T | 0.7345 | deleterious | Detail |
AutG7791 | ZYX | 7 | 143079777 | G | A | 0.4064 | neutral | Detail | 58508 | KMT2C | 7 | 151836804 | G | C | 0.6681 | deleterious | Detail |
AutG11212 | PROSC | 8 | 37623828 | C | A | 0.997 | deleterious | Detail |
AutG80243 | PREX2 | 8 | 69020350 | C | T | 0.7955 | deleterious | Detail |
AutG26986 | PABPC1 | 8 | 101719145 | C | T | 0.3885 | neutral | Detail |
AutG2131 | EXT1 | 8 | 118830706 | C | T | 0.8884 | deleterious | Detail |
AutG93594 | TBC1D31 | 8 | 124142531 | G | A | Detail | ||
AutG83481 | EPPK1 | 8 | 144940414 | G | A | Detail | ||
AutG50626 | CYHR1 | 8 | 145677925 | C | T | 0.8718 | deleterious | Detail |
AutG6595 | SMARCA2 | 9 | 2076312 | T | A | 0.0831 | neutral | Detail |
AutG6194 | RPS6 | 9 | 19378427 | G | A | Detail | ||
AutG768 | CA9 | 9 | 35680802 | G | A | Detail | ||
AutG138199 | C9orf41 | 9 | 77599844 | C | T | Detail | ||
AutG5998 | RGS3 | 9 | 116267745 | C | T | Detail | ||
AutG2022 | ENG | 9 | 130587537 | G | A | Detail | ||
AutG54461 | FBXW5 | 9 | 139835997 | G | A | Detail | ||
AutG774 | CACNA1B | 9 | 140777199 | G | T | 0.9905 | deleterious | Detail |
AutG57512 | GPR158 | 10 | 25510055 | G | T | 0.995 | deleterious | Detail |
AutG53904 | MYO3A | 10 | 26455055 | C | T | 0.4409 | neutral | Detail |
AutG29119 | CTNNA3 | 10 | 69366755 | C | G | 0.9818 | deleterious | Detail |
AutG3778 | KCNMA1 | 10 | 78870005 | C | T | 0.2286 | neutral | Detail |
AutG84986 | ARHGAP19 | 10 | 99024633 | G | A | 0.5524 | deleterious | Detail |
AutG1244 | ABCC2 | 10 | 101594216 | T | C | 0.9195 | deleterious | Detail |
AutG120 | ADD3 | 10 | 111872568 | G | A | 0.9657 | deleterious | Detail |
AutG1755 | DMBT1 | 10 | 124345854 | T | A | 0.0054 | neutral | Detail |
AutG1755 | DMBT1 | 10 | 124351801 | T | C | Detail | ||
AutG56547 | MMP26 | 11 | 5011021 | C | A | 0.2405 | neutral | Detail |
AutG3746 | KCNC1 | 11 | 17793358 | C | T | Detail | ||
AutG259249 | MRGPRX1 | 11 | 18956116 | G | C | 0.9342 | deleterious | Detail |
AutG55226 | NAT10 | 11 | 34154632 | T | C | Detail | ||
AutG960 | CD44 | 11 | 35227734 | T | C | 0.0127 | neutral | Detail |
AutG390168 | OR5M1 | 11 | 56380550 | A | C | 0.0132 | neutral | Detail |
AutG6749 | SSRP1 | 11 | 57102018 | C | T | Detail | ||
AutG9789 | SPCS2 | 11 | 74660408 | C | A | Detail | ||
AutG28971 | AAMDC | 11 | 77580840 | C | T | Detail | ||
AutG24145 | PANX1 | 11 | 93913089 | C | T | Detail | ||
AutG143884 | CWF19L2 | 11 | 107300102 | G | T | Detail | ||
AutG23085 | ERC1 | 12 | 1345953 | T | C | Detail | ||
AutG1108 | CHD4 | 12 | 6710567 | C | T | Detail | ||
AutG359787 | DPPA3 | 12 | 7864175 | A | C | Detail | ||
AutG144195 | SLC2A14 | 12 | 7970433 | A | G | Detail | ||
AutG2984 | GUCY2C | 12 | 14805939 | C | T | 0.6226 | deleterious | Detail |
AutG54477 | PLEKHA5 | 12 | 19522658 | G | A | Detail | ||
AutG338821 | SLCO1B7 | 12 | 21200105 | G | A | Detail | ||
AutG80070 | ADAMTS20 | 12 | 43770053 | C | A | Detail | ||
AutG8085 | KMT2D | 12 | 49433800 | C | G | 0.9886 | deleterious | Detail | 41 | ASIC1 | 12 | 50471866 | G | A | 0.9997 | deleterious | Detail |
AutG3889 | KRT83 | 12 | 52710275 | C | T | 0.7289 | deleterious | Detail |
AutG3071 | NCKAP1L | 12 | 54929978 | C | T | 0.3345 | neutral | Detail |
AutG506 | ATP5B | 12 | 57033938 | G | A | Detail | ||
AutG9958 | USP15 | 12 | 62749154 | T | G | Detail | ||
AutG3034 | HAL | 12 | 96374614 | C | A | 0.2694 | neutral | Detail |
AutG57634 | EP400 | 12 | 132516561 | C | T | 0.421 | neutral | Detail | 221154 | MICU2 | 13 | 22077136 | G | A | 0.7658 | deleterious | Detail |
AutG56163 | RNF17 | 13 | 25373552 | C | A | 0.0319 | neutral | Detail |
AutG4093 | SMAD9 | 13 | 37447001 | C | A | 0.9718 | deleterious | Detail |
AutG55901 | THSD1 | 13 | 52952708 | T | C | 0.2958 | neutral | Detail |
AutG27253 | PCDH17 | 13 | 58240856 | G | A | 0.9463 | deleterious | Detail |
AutG81624 | DIAPH3 | 13 | 60548519 | C | T | Detail | ||
AutG55757 | UGGT2 | 13 | 96506641 | T | A | 0.8323 | deleterious | Detail |
AutG23250 | ATP11A | 13 | 113516804 | C | T | 0.68 | deleterious | Detail |
AutG390431 | OR4K2 | 14 | 20344642 | T | G | Detail | ||
AutG9472 | AKAP6 | 14 | 33201692 | G | A | Detail | ||
AutG253959 | RALGAPA1 | 14 | 36207803 | G | A | Detail | ||
AutG10175 | CNIH1 | 14 | 54897061 | C | T | 0.8409 | deleterious | Detail |
AutG23002 | DAAM1 | 14 | 59791152 | C | T | Detail | ||
AutG55218 | EXD2 | 14 | 69701564 | G | C | 0.9877 | deleterious | Detail |
AutG55640 | FLVCR2 | 14 | 76045663 | C | T | Detail | ||
AutG9369 | NRXN3 | 14 | 79434627 | G | A | 0.9232 | deleterious | Detail |
AutG79890 | RIN3 | 14 | 93081784 | G | A | 0.8916 | deleterious | Detail |
AutG5641 | LGMN | 14 | 93170685 | G | A | Detail | ||
AutG57578 | UNC79 | 14 | 94129046 | C | T | Detail | ||
AutG5330 | PLCB2 | 15 | 40590077 | C | T | Detail | ||
AutG23005 | MAPKBP1 | 15 | 42116026 | G | T | 0.0027 | neutral | Detail |
AutG2200 | FBN1 | 15 | 48717681 | G | A | Detail | ||
AutG23312 | DMXL2 | 15 | 51791966 | T | C | 0.1888 | neutral | Detail |
AutG1106 | CHD2 | 15 | 93467760 | A | G | 0.9189 | deleterious | Detail |
AutG123283 | TARSL2 | 15 | 102242560 | G | A | 0.7918 | deleterious | Detail |
AutG10921 | RNPS1 | 16 | 2312406 | G | C | Detail | ||
AutG23524 | SRRM2 | 16 | 2818164 | T | A | Detail | ||
AutG29066 | ZC3H7A | 16 | 11876164 | T | A | 0.9057 | deleterious | Detail |
AutG4629 | MYH11 | 16 | 15835377 | C | T | Detail | ||
AutG112755 | STX1B | 16 | 31004756 | G | A | 0.4223 | neutral | Detail |
AutG79801 | SHCBP1 | 16 | 46615744 | G | A | 0.149 | neutral | Detail |
AutG55066 | PDPR | 16 | 70190680 | A | G | Detail | ||
AutG53630 | BCO1 | 16 | 81295822 | C | T | Detail | ||
AutG55720 | TSR1 | 17 | 2227665 | G | A | 0.9884 | deleterious | Detail |
AutG51168 | MYO15A | 17 | 18039050 | T | C | 0.9305 | deleterious | Detail |
AutG10693 | CCT6B | 17 | 33266705 | G | A | Detail | ||
AutG26574 | AATF | 17 | 35413915 | G | A | 0.8094 | deleterious | Detail |
AutG8396 | PIP4K2B | 17 | 36927464 | C | T | 0.8624 | deleterious | Detail |
AutG3881 | KRT31 | 17 | 39551197 | G | A | 0.9348 | deleterious | Detail |
AutG124535 | HSF5 | 17 | 56536222 | C | T | 0.1291 | neutral | Detail |
AutG85302 | FBF1 | 17 | 73906883 | C | G | 0.5485 | deleterious | Detail |
AutG3607 | FOXK2 | 17 | 80559225 | G | A | Detail | ||
AutG7525 | YES1 | 18 | 756622 | G | A | 0.784 | deleterious | Detail |
AutG4729 | NDUFV2 | 18 | 9122553 | G | A | 0.8098 | deleterious | Detail |
AutG29919 | C18orf8 | 18 | 21100180 | C | A | 0.1291 | neutral | Detail |
AutG57724 | EPG5 | 18 | 43535061 | G | A | 0.0562 | neutral | Detail |
AutG498 | ATP5A1 | 18 | 43669564 | C | T | Detail | ||
AutG10892 | MALT1 | 18 | 56400687 | C | T | Detail | ||
AutG54531 | MIER2 | 19 | 326548 | C | T | 0.2443 | neutral | Detail |
AutG51343 | FZR1 | 19 | 3527699 | G | A | 0.9992 | deleterious | Detail |
AutG55702 | CCDC94 | 19 | 4251122 | G | A | 0.965 | deleterious | Detail |
AutG50509 | COL5A3 | 19 | 10087238 | G | A | 0.1874 | neutral | Detail |
AutG50509 | COL5A3 | 19 | 10092741 | C | T | Detail | ||
AutG57719 | ANO8 | 19 | 17441782 | G | A | 0.8608 | deleterious | Detail |
AutG23025 | UNC13A | 19 | 17720779 | C | T | Detail | ||
AutG23025 | UNC13A | 19 | 17768899 | C | G | 0.4526 | neutral | Detail |
AutG933 | CD22 | 19 | 35832660 | G | A | Detail | ||
AutG339324 | ZNF260 | 19 | 37005943 | T | G | Detail | ||
AutG83889 | WDR87 | 19 | 38379997 | T | C | Detail | ||
AutG79934 | ADCK4 | 19 | 41206317 | G | A | Detail | ||
AutG23211 | ZC3H4 | 19 | 47584864 | T | A | 0.9553 | deleterious | Detail |
AutG56344 | CABP5 | 19 | 48542567 | G | A | Detail | ||
AutG79784 | MYH14 | 19 | 50753076 | G | A | 0.5125 | deleterious | Detail |
AutG79784 | MYH14 | 19 | 50783305 | G | T | 0.4875 | neutral | Detail |
AutG255043 | TMEM86B | 19 | 55739655 | A | G | 0.0217 | neutral | Detail |
AutG342933 | ZSCAN5B | 19 | 56701754 | C | G | 0.0104 | neutral | Detail |
AutG57573 | ZNF471 | 19 | 57035824 | C | A | 0.0381 | neutral | Detail |
AutG56265 | CPXM1 | 20 | 2775947 | G | A | Detail | ||
AutG65992 | DDRGK1 | 20 | 3181055 | G | A | 0.4348 | neutral | Detail |
AutG58495 | OVOL2 | 20 | 18005484 | C | A | 0.08 | neutral | Detail |
AutG23054 | NCOA6 | 20 | 33330216 | C | T | 0.7473 | deleterious | Detail |
AutG57468 | SLC12A5 | 20 | 44681697 | G | A | 0.9941 | deleterious | Detail |
AutG6874 | TAF4 | 20 | 60589640 | G | C | 0.6841 | deleterious | Detail |
AutG26164 | MTG2 | 20 | 60772988 | T | A | 0.2602 | neutral | Detail |
AutG4047 | LSS | 21 | 47628169 | C | T | 0.0266 | neutral | Detail |
AutG4627 | MYH9 | 22 | 36716407 | G | A | Detail | ||
AutG1756 | DMD | X | 32383221 | C | T | Detail | ||
AutG1184 | CLCN5 | X | 49834668 | C | T | 0.831 | deleterious | Detail |
AutG5456 | POU3F4 | X | 82764282 | T | C | 0.9532 | deleterious | Detail | 10178 | TENM1 | X | 123517756 | T | C | 0.3672 | neutral | Detail |
AutG3547 | IGSF1 | X | 130419865 | C | A | 0.2587 | neutral | Detail |