Supplementary table 2A. Proband-specific variants Proband Gene Gene full name Chr Position RefSeqChange Function ESP6500 1000 Genome SNP137 PolyPhen2 Nucleotide Amino acid Score Prediction 1 AGAP5 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 chr10 75435178 NM_001144000 c.G1240A p.V414M exonic . . . 0.99 D 1 REXO1L1 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 chr8 86574465 NM_172239 c.A1262G p.Y421C exonic . . . 0.98 D 1 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) chr2 228169782 NM_000091 c.G4235T p.G1412V exonic . . . 1.00 D 1 KIAA1586 KIAA1586 chr6 56912133 NM_020931 c.C44G p.A15G exonic . . . 0.99 D 1 KIAA1586 KIAA1586 chr6 56912176 NM_020931 c.C87G p.D29E exonic . . . 0.99 D 1 JAKMIP3 Janus kinase and microtubule interacting protein 3 chr10 133955524 NM_001105521 c.G1574C p.G525A exonic . . . 1.00 D 1 MPHOSPH8 M-phase phosphoprotein 8 chr13 20240685 NM_017520 c.C2140T p.L714F exonic . . . 0.97 D 1 SYNE1 spectrin repeat containing, nuclear envelope 1 chr6 152783902 NM_033071 c.A2242T p.N748Y exonic . . . 0.97 D 1 CAND2 cullin-associated and neddylation-dissociated 2 (putative) chr3 12858835 NM_012298 c.C2125T p.H709Y exonic . . . 0.95 D 1 TDRD9 tudor domain containing 9 chr14 104460909 NM_153046 c.T1289G p.V430G exonic . . . 0.96 D 2 ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)chr1 197091625 NM_001206846 c.G3491A p.R1164H exonic . . . 0.99 D 2 ADAM29 ADAM metallopeptidase domain 29 chr4 175896951 NM_001130705 c.A275G p.D92G exonic . . . 1.00 D 2 BCO2 beta-carotene oxygenase 2 chr11 112087019 NM_001256398 c.G1373A p.G458E exonic . . . 1.00 D 2 CATSPERD catsper channel auxiliary subunit delta chr19 5748225 NM_152784 c.C863T p.S288F exonic . . . 0.96 D 2 SCUBE2 signal peptide, CUB domain, EGF-like 2 chr11 9077346 NM_001170690 c.T1201C p.C401R exonic . . . 1.00 D 2 POLQ polymerase (DNA directed), theta chr3 121207798 NM_199420 c.A3980C p.Q1327P exonic . . . 1.00 D 2 GCN1L1 GCN1 general control of amino-acid synthesis 1-like 1 (yeast) chr12 120574319 NM_006836 c.T6995C p.L2332P exonic . . . 0.98 D 2 HARS histidyl-tRNA synthetase chr5 140058663 NM_002109 c.G446A p.R149H exonic . . . 1.00 D 2 GUF1 GUF1 GTPase homolog (S. cerevisiae) chr4 44691909 NM_021927 c.G1252A p.E418K exonic . . . 0.94 D 2 HTRA3 HtrA serine peptidase 3 chr4 8288500 NM_053044 c.T698A p.I233N exonic . . . 0.99 D 2 MR1 major histocompatibility complex, class I-related chr1 181018275 NM_001194999 c.C155T p.S52L exonic . . . 1.00 D 2 MAN2C1 mannosidase, alpha, class 2C, member 1 chr15 75651046 NM_001256496 c.C1948T p.R650W exonic . . . 0.98 D 2 MTTP microsomal triglyceride transfer protein chr4 100534247 NM_000253 c.G2167A p.D723N exonic . . . 0.98 D 2 MUC5B mucin 5B, oligomeric mucus/gel-forming chr11 1266892 NM_002458 c.C8782T p.R2928W exonic . . . 0.93 D 2 NRXN1 neurexin 1 chr2 50170860 NM_138735 c.C1003G p.P335A exonic . . . 1.00 D 2 PDCD6 programmed cell death 6 chr5 272863 NM_013232 c.G139C p.E47Q exonic . . . 1.00 D 2 PARP6 poly (ADP-ribose) polymerase family, member 6 chr15 72552919 NM_020214 c.A656G p.N219S exonic . . . 0.96 D 2 RIN3 Ras and Rab interactor 3 chr14 93119252 NM_024832 c.G1858C p.V620L exonic . . . 0.95 D 2 STRC stereocilin chr15 43905037 NM_153700 c.G2735A p.R912H exonic . . . 0.99 D 2 TPPP3 tubulin polymerization-promoting protein family member 3 chr16 67424855 NM_015964 c.G160A p.D54N exonic . . . 0.99 D 2 DCAF10 DDB1 and CUL4 associated factor 10 chr9 37860120 NM_024345 c.C1241T p.T414M exonic . . . 1.00 D 2 ZC3H4 zinc finger CCCH-type containing 4 chr19 47572384 NM_015168 c.C2363T p.A788V exonic . . . 0.99 D 3 AGAP8 ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 chr10 51246226 NM_001077686 c.C184T p.L62F exonic . . . 0.99 D 3 CCM2L cerebral cavernous malformation 2-like chr20 30602783 NM_080625 c.G107A p.R36H exonic . . . 1.00 D 3 DOCK9 dedicator of cytokinesis 9 chr13 99555230 NM_001130049 c.C1175G p.T392R exonic . . . 1.00 D 3 DNER delta/notch-like EGF repeat containing chr2 230456495 NM_139072 c.G386T p.G129V exonic . . . 1.00 D 3 DUX2 double homeobox 2 chr10 135494906 splicing . . . . . 3 DYTN dystrotelin chr2 207564560 NM_001093730 c.C610T p.P204S exonic . . . 1.00 D 3 GPAT2 glycerol-3-phosphate acyltransferase 2, mitochondrial chr2 96692778 NM_207328 c.C796T p.L266F exonic . . . 0.99 D 3 ABCB8 ATP-binding cassette, sub-family B (MDR/TAP), member 8 chr7 150739159 NM_007188 c.A1729C p.I577L exonic . . . 0.97 D 3 KLHL18 kelch-like family member 18 chr3 47382078 NM_025010 c.G1138A p.V380M exonic . . . 0.95 D 3 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 chr6 74229160 NM_001402 c.T224C p.I75T exonic . . . 1.00 D 3 ZNF705D zinc finger protein 705D chr8 11970359 NM_001039615 c.C595T p.P199S exonic . . . 0.99 D 3 FAM72D family with sequence similarity 72, member D chr1 143897564 NM_207418 c.G433C p.E145Q exonic . . . 1.00 D 3 MSLNL mesothelin-like chr16 820921 NM_001025190 c.C2464T p.R822W exonic . . . 0.99 D 3 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF chr1 228433336 NM_001098623 c.A3704C p.E1235A exonic . . . 1.00 D 3 ODZ1 teneurin transmembrane protein 1 chrX 123554168 NM_014253 c.G4954A p.V1652 exonic . . . 0.97 D 3 OR2G2 olfactory receptor, family 2, subfamily G, member 2 chr1 247751981 NM_001001915 c.C320G p.S107C exonic . . . 0.97 D 3 TAF5L TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associatedchr1 229738666 factor, 65kDa NM_001025247 c.A248T p.D83V exonic . . . 0.93 D 3 PRAMEF5 PRAME family member 5 chr1 13109097 NM_001013407 c.C1172G p.S391C exonic . . . 1.00 D 3 PREPL prolyl endopeptidase-like chr2 44569557 NM_001042385 c.A751G p.S251G exonic . . . 0.96 D 3 DNAH7 dynein, axonemal, heavy chain 7 chr2 196771421 NM_018897 c.G4297C p.G1433R exonic . . . 1.00 D 3 FAM108A1 abhydrolase domain containing 17A chr19 1877546 NM_001130111 c.C668G p.P223R exonic . . . 0.92 D 3 ATP2C2 ATPase, Ca++ transporting, type 2C, member 2 chr16 84494285 NM_014861 c.G2359A p.D787N exonic . . . 1.00 D 3 KRT7 keratin 7 chr12 52627304 NM_005556 c.C224G p.P75R exonic . . . 1.00 D 3 PCDHB11 protocadherin beta 11 chr5 140580510 NM_018931 c.A1163T p.D388V exonic . . . 0.95 D 3 SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted,chr7 82997097 (semaphorin) NM_001178129 3E c.G1953T p.K651N exonic . . . 1.00 D 3 SIGLEC5 sialic acid binding Ig-like lectin 5 chr19 52133563 NM_003830 c.T26C p.L9P exonic . . . 0.97 D 3 STAG2 stromal antigen 2 chrX 123185227 NM_006603 c.A1179T p.L393F exonic . . . 0.99 D 3 ZNF486 zinc finger protein 486 chr19 20308501 NM_052852 c.G982C p.G328R exonic . . . 0.99 D 4 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67934721 splicing . . . . . 4 ATG9A autophagy related 9A chr2 220089227 NM_024085 c.G866A p.R289H exonic . . . 0.96 D 4 CAMSAP2 calmodulin regulated spectrin-associated protein family, member chr12 200730102 NM_203459 c.A275G p.D92G exonic . . . 1.00 D 4 CHCHD5 coiled-coil-helix-coiled-coil-helix domain containing 5 chr2 113343842 NM_032309 c.G209A p.R70Q exonic . . . 0.91 D 4 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 chr8 19362817 NM_001130518 c.C529T p.R177W exonic . . . 1.00 D 4 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 chr15 43857181 NM_001130859 c.G3056T p.C1019F exonic . . . 0.96 D 4 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 chr15 43870347 NM_001130859 c.C1171A p.L391I exonic . . . 1.00 D 4 EP400 E1A binding protein p400 chr12 132529360 NM_015409 c.A6646C p.T2216P exonic . . . 0.98 D 4 FAM21A family with sequence similarity 21, member A chr10 51840665 NM_018232 c.C238T p.R80W exonic . . . 1.00 D 4 FAM21A family with sequence similarity 21, member A chr10 51885192 NM_018232 c.G2407T p.A803S exonic . . . 1.00 D 4 GLB1L2 galactosidase, beta 1-like 2 chr11 134241716 NM_138342 c.A1499G p.Q500R exonic . . . 0.92 D 4 TTN titin chr2 179434826 NM_003319 c.G48838A p.D16280N exonic . . . 1.00 D 4 MUC4 mucin 4, cell surface associated chr3 195513694 NM_018406 c.C4757T p.P1586L exonic . . . 0.96 D 4 MUC4 mucin 4, cell surface associated chr3 195514022 NM_018406 c.G4429C p.D1477H exonic . . . 0.92 D 4 FAM168B family with sequence similarity 168, member B chr2 131810487 NM_001009993 c.C577T p.P193S exonic . . . 0.99 D 4 FAM21C family with sequence similarity 21, member C chr10 46235668 NM_001169106 c.C502T p.R168W exonic . . . 1.00 D 4 FAM115C family with sequence similarity 115, member C chr7 143400211 NM_001130025 c.G124A p.V42M exonic . . . 0.99 D 4 FAM21B family with sequence similarity 21, member B chr10 47896803 NM_018232 c.C238T p.R80W exonic . . . 1.00 D 4 FAM21B family with sequence similarity 21, member B chr10 47941337 NM_018232 c.G2407T p.A803S exonic . . . 0.96 D 4 SPATA31A5 SPATA31 subfamily A, member 5 chr9 65507184 NM_001113541 c.G376A p.V126M exonic . . . 0.97 D 4 KRT76 keratin 76 chr12 53170913 NM_015848 c.A163C p.S55R exonic . . . 0.94 D 4 KRTAP5-11 keratin associated protein 5-11 chr11 71293819 NM_001005405 c.G65T p.G22V exonic . . . 0.99 D 4 LARP1 La ribonucleoprotein domain family, member 1 chr5 154179154 NM_015315 c.C1150A p.L384I exonic . . . 1.00 D 4 LRRC16B leucine rich repeat containing 16B chr14 24535653 NM_138360 c.G3572A p.R1191Q exonic . . . 0.99 D 4 KDM4E lysine (K)-specific demethylase 4E chr11 94759407 NM_001161630 c.C686T p.P229L exonic . . . 1.00 D 4 LOXL3 lysyl oxidase-like 3 chr2 74776687 NM_032603 c.G501C p.E167D exonic . . . 0.97 D 4 CLEC18C C-type lectin domain family 18, member C chr16 70217697 NM_173619 c.G919A p.D307N exonic . . . 1.00 D 4 MICAL3 microtubule associated monooxygenase, calponin and LIM domainchr22 containing 18379671 3 NM_001122731 c.C1025G p.A342G exonic . . . 0.98 D 4 NAV3 neuron navigator 3 chr12 78522502 NM_014903 c.C4297T p.R1433W exonic . . . 1.00 D 4 NOL11 nucleolar protein 11 chr17 65717522 NM_015462 c.C341G p.S114X exonic . . . . . 4 OR2T29 olfactory receptor, family 2, subfamily T, member 29 chr1 248721933 NM_001004694 c.C860T p.P287L exonic . . . 0.98 D 4 OR8B3 olfactory receptor, family 8, subfamily B, member 3 chr11 124267145 NM_001005467 c.T103C p.Y35H exonic . . . 0.97 D 4 PADI4 peptidyl arginine deiminase, type IV chr1 17672636 splicing . . . . . 4 PLCB4 phospholipase C, beta 4 chr20 9400546 NM_000933 c.G2108C p.C703S exonic . . . 0.98 D 4 KCNG1 potassium voltage-gated channel, subfamily G, member 1 chr20 49620783 NM_002237 c.C1335G p.I445M exonic . . . 1.00 D 4 PRR21 proline rich 21 chr2 240981445 NM_001080835 c.C955T p.R319W exonic . . . 0.95 D 4 PRRT2 proline-rich transmembrane protein 2 chr16 29825015 NM_001256442 c.G640C p.A214P exonic . . . 0.99 D 4 LPHN3 latrophilin 3 chr4 62903567 NM_015236 c.G3506A p.G1169D exonic . . . 1.00 D 4 RGPD5 RANBP2-like and GRIP domain containing 5 chr2 113147751 NM_001164463 c.T2771G p.F924C exonic . . . 0.95 D 4 AMY1A amylase, alpha 1A (salivary) chr1 104205387 NM_001008218 c.C1210T p.R404C exonic . . . 0.96 D 4 SLC38A10 solute carrier family 38, member 10 chr17 79226888 NM_001037984 c.G1441C p.D481H exonic . . . 0.98 D 4 TCP10 t-complex 10 chr6 167794781 NM_004610 c.G107C p.R36T exonic . . . 0.98 D 4 TCF20 transcription factor 20 (AR1) chr22 42609633 NM_005650 c.C1679T p.P560L exonic . . . 1.00 D 4 TUBB2A tubulin, beta 2A class IIa chr6 3154732 NM_001069 c.G703A p.G235R exonic . . . 1.00 D 4 UBE2L3 ubiquitin-conjugating enzyme E2L 3 chr22 21975938 NM_001256356 c.G349A p.E117K exonic . . . 0.96 D 4 CACNB2 calcium channel, voltage-dependent, beta 2 subunit chr10 18828492 NM_000724 c.C1657T p.R553C exonic . . . 1.00 D 4 VWF von Willebrand factor chr12 6131959 NM_000552 c.C3485T p.P1162L exonic . . . 0.99 D 4 WDR5B WD repeat domain 5B chr3 122133529 NM_019069 c.A847T p.N283Y exonic . . . 0.94 D 4 ZDHHC13 zinc finger, DHHC-type containing 13 chr11 19170878 NM_001001483 c.G129C p.Q43H exonic . . . 0.99 D 5 AKAP9 A kinase (PRKA) anchor protein 9 chr7 91674387 NM_005751 c.C5228T p.A1743V exonic . . . 0.94 D 5 ESF1 ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)chr20 13763831 splicing . . . . . 5 AGAP9 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 chr10 47192640 NM_001190810 c.C1479G p.N493K exonic . . . 1.00 D 5 AGAP9 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 chr10 48236712 NM_001190810 c.C1479G p.N493K exonic . . . 1.00 D 5 BST2 bone marrow stromal cell antigen 2 chr19 17515207 NM_004335 c.G325C p.G109R exonic . . . 0.95 D 5 DCAF11 DDB1 and CUL4 associated factor 11 chr14 24588814 NM_001163484 c.C895T p.R299C exonic . . . 1.00 D 5 ETNK1 ethanolamine kinase 1 chr12 22824250 NM_018638 c.C1012A p.L338M exonic . . . 0.92 D 5 FBXL18 F-box and leucine-rich repeat protein 18 chr7 5545092 NM_024963 c.G188T p.C63F exonic . . . 0.91 D 5 GCAT glycine C-acetyltransferase chr22 38212211 NM_001171690 c.C1069T p.R357C exonic . . . 1.00 D 5 NBPF6 neuroblastoma breakpoint family, member 6 chr1 109002577 NM_001143988 c.G1051A p.V351M exonic . . . 0.91 D 5 MUC16 mucin 16, cell surface associated chr19 9066474 NM_024690 c.C20972T p.S6991F exonic . . . 0.95 D 5 FAM65A family with sequence similarity 65, member A chr16 67579662 NM_001193522 c.C3298T p.R1100W exonic . . . 0.99 D 5 INTS4 integrator complex subunit 4 chr11 77614629 NM_033547 c.T2054C p.L685S exonic . . . 0.97 D 5 IQCF6 IQ motif containing F6 chr3 51812760 NM_001143833 c.C203T p.A68V exonic . . . 1.00 D 5 PEX2 peroxisomal biogenesis factor 2 chr8 77895663 NM_001079867 c.C752T p.P251L exonic . . . 1.00 D 5 RASA4 RAS p21 protein activator 4 chr7 102234183 NM_001079877 c.A1486C p.T496P exonic . . . 0.99 D 5 AKAP13 A kinase (PRKA) anchor protein 13 chr15 86265244 NM_144767 c.G1010A p.R337H exonic . . . 1.00 D 5 CRB1 crumbs homolog 1 (Drosophila) chr1 197396763 NM_001193640 c.G1972A p.G658S exonic . . . 1.00 D 5 MMS19 MMS19 nucleotide excision repair homolog (S. cerevisiae) chr10 99219190 NM_022362 c.C2833T p.P945S exonic . . . 1.00 D 5 VWDE von Willebrand factor D and EGF domains chr7 12395950 NM_001135924 c.G3532C p.V1178L exonic . . . 0.99 D 5 ZNF778 zinc finger protein 778 chr16 89294269 NM_182531 c.C1489G p.R497G exonic . . . 0.98 D 5 RIMBP3 RIMS binding protein 3 chr22 20459690 NM_015672 c.C1612T p.R538C exonic . . . 1.00 D 5 RRN3 RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)chr16 15163979 NM_018427 c.C1392A p.F464L exonic . . . 0.94 D 5 SNAPC4 small nuclear RNA activating complex, polypeptide 4, 190kDa chr9 139272111 NM_003086 c.C4168T p.L1390F exonic . . . 1.00 D 5 SRRM2 serine/arginine repetitive matrix 2 chr16 2811914 NM_016333 c.G1385A p.R462H exonic . . . 0.99 D 5 TNXB tenascin XB chr6 32013985 NM_019105 c.C10567T p.R3523C exonic . . . 0.98 D 5 RAD23B RAD23 homolog B (S. cerevisiae) chr9 110087260 NM_001244713 c.C1028T p.P343L exonic . . . 0.99 D 5 ZNF117 zinc finger protein 117 chr7 64438996 NM_015852 c.C953G p.S318X exonic . . . . . 6 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)chrX 41394028 NM_001126055 c.G2161T p.V721F exonic . . . 1.00 D 6 GEMIN4 gem (nuclear organelle) associated protein 4 chr17 650667 NM_015721 c.G616C p.D206H exonic . . . 0.94 D 6 SPTBN2 spectrin, beta, non-erythrocytic 2 chr11 66453879 NM_006946 c.C6929T p.A2310V exonic . . . 1.00 D 6 TTN titin chr2 179449134 NM_003319 c.G37949A p.R12650Q exonic . . . 0.94 D 6 ITGA6 integrin, alpha 6 chr2 173352868 NM_000210 c.C2417G p.S806C exonic . . . 1.00 D 6 HIP1R huntingtin interacting protein 1 related chr12 123334437 NM_003959 c.C373T p.R125C exonic . . . 0.94 D 6 CPED1 cadherin-like and PC-esterase domain containing 1 chr7 120737782 NM_001105533 c.T646A p.C216S exonic . . . 1.00 D 6 IGSF3 immunoglobulin superfamily, member 3 chr1 117142844 NM_001007237 c.G1748A p.R583Q exonic . . . 0.97 D 6 LANCL1 LanC lantibiotic synthetase component C-like 1 (bacterial) chr2 211301007 NM_001136574 c.A983G p.N328S exonic . . . 1.00 D 6 LRRC15 leucine rich repeat containing 15 chr3 194081585 NM_130830 c.C188T p.T63M exonic . . . 0.99 D 6 MYOM2 myomesin 2 chr8 2000433 splicing . . . . . 6 RABEP2 rabaptin, RAB GTPase binding effector protein 2 chr16 28931148 NM_024816 c.C391T p.R131W exonic . . . 1.00 D 6 DNAH1 dynein, axonemal, heavy chain 1 chr3 52404559 NM_015512 c.T6325G p.F2109V exonic . . . 0.96 D 6 KIAA1731 KIAA1731 chr11 93416724 splicing . . . . . 6 SPANXA1 sperm protein associated with the nucleus, X-linked, family memberchrX A1 140672728 splicing . . . . . 6 SYDE2 synapse defective 1, Rho GTPase, homolog 2 (C. elegans) chr1 85643936 NM_032184 c.T2564C p.L855S exonic . . . 1.00 D 7 ASXL1 additional sex combs like 1 (Drosophila) chr20 31022625 NM_015338 c.G2110T p.G704W exonic . . . 0.97 D 7 NAGA N-acetylgalactosaminidase, alpha- chr22 42461843 NM_000262 c.G658T p.D220Y exonic . . . 1.00 D 7 AGAP8 ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 chr10 51225154 NM_001077686 c.C1828T p.R610C exonic . . . 1.00 D 7 CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 chr1 109804465 NM_001408 c.G4333A p.G1445R exonic . . . 1.00 D 7 CAPN9 calpain 9 chr1 230910362 NM_006615 c.A938G p.D313G exonic . . . 0.99 D 7 CRTAC1 cartilage acidic protein 1 chr10 99696104 NM_001206528 c.G244C p.V82L exonic . . . 0.95 D 7 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamidechr21 34907563 synthetase, phosphoribosylaminoimida NM_000819 c.T209Czole synthetase p.V70A exonic . . . 0.99 D 7 GPBAR1 G protein-coupled bile acid receptor 1 chr2 219127668 NM_001077191 c.T221C p.L74P exonic . . . 1.00 D 7 GATA3 GATA binding protein 3 chr10 8100630 NM_001002295 c.C604T p.R202C exonic . . . 0.92 D 7 TTN titin chr2 179440757 NM_003319 c.A42907C p.I14303L exonic . . . 0.99 D 7 TBC1D3 TBC1 domain family, member 3 chr17 36294095 NM_001123391 c.T1145C p.L382P exonic . . . 0.91 D 7 BEST3 bestrophin 3 chr12 70087571 NM_032735 c.C364T p.R122C exonic . . . 1.00 D 7 LRP1B low density lipoprotein receptor-related protein 1B chr2 141250221 NM_018557 c.A9076G p.R3026G exonic . . . 0.99 D 7 COL18A1 collagen, type XVIII, alpha 1 chr21 46899861 NM_030582 c.G1834A p.G612S exonic . . . 1.00 D 7 PLEKHA3 pleckstrin homology domain containing, family A (phosphoinositidechr2 binding 179350454 specific) member NM_019091 3 c.A127G p.S43G exonic . . . 0.99 D 7 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 chrX 129264126 NM_001130846 c.C533T p.S178L exonic . . . 0.98 D 7 RASA4 RAS p21 protein activator 4 chr7 102234951 NM_001079877 c.T1127C p.F376S exonic . . . 0.98 D 7 ACSS3 acyl-CoA synthetase short-chain family member 3 chr12 81647114 NM_024560 c.A1748G p.D583G exonic . . . 1.00 D 7 RIMBP3 RIMS binding protein 3 chr22 20457784 NM_015672 c.C3518T p.S1173F exonic . . . 1.00 D 7 RIMBP3B RIMS binding protein 3B chr22 21741665 NM_001128633 c.C3518T p.S1173F exonic . . . 1.00 D 7 RIMBP3B RIMS binding protein 3B chr22 21901748 NM_001128633 c.C3518T p.S1173F exonic . . . 1.00 D 7 SEZ6L seizure related 6 homolog (mouse)-like chr22 26695049 NM_001184773 c.T1262G p.L421R exonic . . . 0.98 D 7 EPS15 epidermal growth factor receptor pathway substrate 15 chr1 51906041 NM_001981 c.A1018G p.N340D exonic . . . 1.00 D 7 TMEM132E transmembrane protein 132E chr17 32963072 NM_207313 c.C1754T p.T585M exonic . . . 0.97 D 8 CAPSL calcyphosine-like chr5 35910629 NM_001042625 c.G154A p.D52N exonic . . . 1.00 D 8 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 chr19 8656701 NM_030957 c.C1780T p.R594C exonic . . . 0.99 D 8 NVL nuclear VCP-like chr1 224477368 NM_001243146 c.C826G p.L276V exonic . . . 0.98 D 8 SIL1 SIL1 nucleotide exchange factor chr5 138286984 NM_022464 c.A905G p.Y302C exonic . . . 0.97 D 8 GOLGA3 golgin A3 chr12 133365774 NM_001172557 c.C2650T p.R884W exonic . . . 0.98 D 8 GIGYF2 GRB10 interacting GYF protein 2 chr2 233655763 NM_001103148 c.C958T p.R320W exonic . . . 1.00 D 8 TTN titin chr2 179443660 NM_003319 c.G40902C p.Q13634H exonic . . . 0.92 D 8 GUF1 GUF1 GTPase homolog (S. cerevisiae) chr4 44691378 NM_021927 c.G1154T p.S385I exonic . . . 1.00 D 8 FAT1 FAT atypical cadherin 1 chr4 187629895 NM_005245 c.G1087A p.G363R exonic . . . 0.97 D 8 MID1 midline 1 (Opitz/BBB syndrome) chrX 10417608 NM_000381 c.C1804T p.R602W exonic . . . 0.99 D 8 TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerasechr8 9566003 splicing . . . . . 8 SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domachr9in (TM) 92017839 and short cytoplasmic NM_001142287 domain, c.C199T(semaphorin)p.R67W 4D exonic . . . 0.99 D 8 LOC100132247 putative NPIP-like rotein LOC100132247-like chr16 22535171 NM_001135865 c.C151T p.R51C exonic . . . 0.91 D 8 INTS4 integrator complex subunit 4 chr11 77602450 NM_033547 c.G2507A p.R836Q exonic . . . 0.97 D 8 KAT6B K(lysine) acetyltransferase 6B chr10 76744854 NM_012330 c.G2390A p.S797N exonic . . . 0.98 D 8 PITRM1 pitrilysin metallopeptidase 1 chr10 3208559 NM_001242309 c.A184T p.T62S exonic . . . 1.00 D 8 MUC6 mucin 6, oligomeric mucus/gel-forming chr11 1017898 NM_005961 c.A4903C p.T1635P exonic . . . 0.99 D 8 NOMO2 NODAL modulator 2 chr16 18528552 NM_001004060 c.C2716T p.L906F exonic . . . 0.92 D 8 PGAP3 post-GPI attachment to proteins 3 chr17 37829105 NM_033419 c.A914G p.D305G exonic . . . 1.00 D 8 PIEZO1 piezo-type mechanosensitive ion channel component 1 chr16 88783216 NM_001142864 c.C6751T p.P2251S exonic . . . 0.91 D 8 KCNK13 potassium channel, subfamily K, member 13 chr14 90650963 NM_022054 c.C843G p.I281M exonic . . . 1.00 D 8 PCDH7 protocadherin 7 chr4 30723421 NM_001173523 c.T377A p.L126Q exonic . . . 1.00 D 8 RGPD4 RANBP2-like and GRIP domain containing 4 chr2 108487813 NM_182588 c.T3353A p.M1118K exonic . . . 0.99 D 8 RNF186 ring finger protein 186 chr1 20141347 NM_019062 c.C248T p.P83L exonic . . . 1.00 D 8 SH3BP4 SH3-domain binding protein 4 chr2 235950155 NM_014521 c.T742A p.S248T exonic . . . 0.99 D 8 TGIF1 TGFB-induced factor homeobox 1 chr18 3456370 NM_003244 c.G35A p.G12D exonic . . . 0.91 D 8 ZNF493 zinc finger protein 493 chr19 21607613 NM_175910 c.T1768C p.C590R exonic . . . 0.99 D 9 NCEH1 neutral cholesterol ester hydrolase 1 chr3 172351824 NM_001146278 c.T269C p.V90A exonic . . . 1.00 D 9 COL9A1 collagen, type IX, alpha 1 chr6 70966476 NM_078485 c.G769A p.A257T exonic . . . 0.95 D 9 CNTNAP4 contactin associated protein-like 4 chr16 76486444 NM_138994 c.C892T p.P298S exonic . . . 1.00 D 9 CCDC102A coiled-coil domain containing 102A chr16 57550290 NM_033212 c.G1334A p.R445Q exonic . . . 1.00 D 9 EPAS1 endothelial PAS domain protein 1 chr2 46602946 NM_001430 c.A1004C p.Q335P exonic . . . 1.00 D 9 FNBP1 formin binding protein 1 chr9 132658260 NM_015033 c.C1703T p.T568M exonic . . . 1.00 D 9 DNAH9 dynein, axonemal, heavy chain 9 chr17 11572915 NM_001372 c.C3157G p.P1053A exonic . . . 0.95 D 9 LIG1 ligase I, DNA, ATP-dependent chr19 48637322 NM_000234 c.G1525A p.E509K exonic . . . 0.95 D 9 SOS1 son of sevenless homolog 1 (Drosophila) chr2 39249740 NM_005633 c.T1829C p.I610T exonic . . . 1.00 D 9 NPM3 nucleophosmin/nucleoplasmin 3 chr10 103542050 NM_006993 c.C383T p.S128F exonic . . . 0.98 D 9 RAPGEF6 Rap guanine nucleotide exchange factor (GEF) 6 chr5 130840332 NM_001164386 c.A1241G p.H414R exonic . . . 0.97 D 9 PRAMEF20 PRAME family member 20 chr1 13526644 NM_001100114 c.A1199G p.H400R exonic . . . 0.96 D 9 PRAMEF7 PRAME family member 7 chr1 13608329 splicing . . . . . 9 REC8 REC8 meiotic recombination protein chr14 24642220 NM_001048205 c.G238A p.V80I exonic . . . 0.94 D 9 PLA2G4E phospholipase A2, group IVE chr15 42276163 NM_001206670 c.G2396A p.R799Q exonic . . . 1.00 D 9 DNAH3 dynein, axonemal, heavy chain 3 chr16 21045350 NM_017539 c.G5143A p.G1715S exonic . . . 0.91 D 9 RDH8 retinol dehydrogenase 8 (all-trans) chr19 10127732 splicing . . . . . 9 SPINK4 serine peptidase inhibitor, Kazal type 4 chr9 33240249 NM_014471 c.C43T p.L15F exonic . . . 1.00 D 9 TMCO5A transmembrane and coiled-coil domains 5A chr15 38227550 splicing . . . . . 10 PDPK1 3-phosphoinositide dependent protein kinase-1 chr16 2633549 NM_031268 c.C707T p.P236L exonic . . . 1.00 D 10 AQP6 aquaporin 6, kidney specific chr12 50368605 NM_001652 c.A638G p.H213R exonic . . . 1.00 D 10 BTBD7 BTB (POZ) domain containing 7 chr14 93761133 NM_001002860 c.G233A p.R78K exonic . . . 0.97 D 10 CDK11A cyclin-dependent kinase 11A chr1 1634963 NM_024011 c.A2012C p.K671T exonic . . . 0.97 D 10 LIG4 ligase IV, DNA, ATP-dependent chr13 108862463 NM_001098268 c.G1154A p.R385K exonic . . . 1.00 D 10 FAM86B1 family with sequence similarity 86, member B1 chr8 12044248 NM_001083537 c.C335T p.A112V exonic . . . 0.98 D 10 FCGBP Fc fragment of IgG binding protein chr19 40396277 NM_003890 c.G7120A p.D2374N exonic . . . 1.00 D 10 FCRL1 Fc receptor-like 1 chr1 157771971 NM_001159397 c.G620T p.R207L exonic . . . 0.95 D 10 FAM86B2 family with sequence similarity 86, member B2 chr8 12286559 NM_001137610 c.T407G p.L136R exonic . . . 1.00 D 10 AP4E1 adaptor-related protein complex 4, epsilon 1 subunit chr15 51223161 NM_001252127 c.G637A p.D213N exonic . . . 1.00 D 10 PEX6 peroxisomal biogenesis factor 6 chr6 42937422 NM_000287 c.C1351T p.P451S exonic . . . 0.91 D 10 HAP1 huntingtin-associated protein 1 chr17 39884458 NM_001079870 c.C1219T p.R407W exonic . . . 0.95 D 10 FAM111B family with sequence similarity 111, member B chr11 58891778 NM_001142704 c.C118T p.Q40X exonic . . . . . 10 TRAPPC13 trafficking protein particle complex 13 chr5 64942894 NM_001093755 c.A313C p.T105P exonic . . . 1.00 D 10 KIAA0368 KIAA0368 chr9 114213733 NM_001080398 c.C659G p.S220C exonic . . . 0.99 D 10 MTHFSD methenyltetrahydrofolate synthetase domain containing chr16 86580224 NM_001159377 c.T383G p.L128W exonic . . . 1.00 D 10 ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 chr10 51947169 NM_001143974 c.A2144G p.Y715C exonic . . . 0.99 D 10 PRAMEF15 PRAME family member 15 chr1 13427812 NM_001010890 c.G1390A p.G464S exonic . . . 0.99 D 10 RGPD3 RANBP2-like and GRIP domain containing 3 chr2 107073525 NM_001144013 c.T307A p.L103M exonic . . . 0.99 D 10 RASA4 RAS p21 protein activator 4 chr7 102230611 NM_006989 c.T1963C p.C655R exonic . . . 0.97 D 10 ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 chr7 48550753 NM_152701 c.G13598A p.R4533H exonic . . . 1.00 D 10 VWDE von Willebrand factor D and EGF domains chr7 12433302 NM_001135924 c.T161C p.I54T exonic . . . 0.94 D 10 REG1A regenerating islet-derived 1 alpha chr2 79350060 NM_002909 c.A415G p.S139G exonic . . . 0.99 D 10 SCN11A sodium channel, voltage-gated, type XI, alpha subunit chr3 38891970 splicing . . . . . 10 SLC5A10 solute carrier family 5 (sodium/sugar cotransporter), member 10 chr17 18923024 splicing . . . . . 10 SYTL3 synaptotagmin-like 3 chr6 159178289 NM_001242395 c.C980T p.S327L exonic . . . 1.00 D 10 STXBP5L syntaxin binding protein 5-like chr3 121100359 NM_014980 c.C2639A p.P880Q exonic . . . 1.00 D 10 TNXB tenascin XB chr6 32009589 NM_019105 c.G12586A p.A4196T exonic . . . 0.92 D 10 TPBG trophoblast glycoprotein chr6 83075678 NM_001166392 c.C1000T p.L334F exonic . . . 0.99 D 10 ZNF540 zinc finger protein 540 chr19 38103902 NM_001172226 c.C1625T p.T542M exonic . . . 0.98 D 11 ACSS1 acyl-CoA synthetase short-chain family member 1 chr20 24989932 NM_001252676 c.A1501G p.K501E exonic . . . 0.99 D 11 AOAH acyloxyacyl hydrolase (neutrophil) chr7 36657945 NM_001177507 c.G613A p.D205N exonic . . . 1.00 D 11 TM2D1 TM2 domain containing 1 chr1 62149180 NM_032027 c.T552A p.D184E exonic . . . 0.98 D 11 BICC1 bicaudal C homolog 1 (Drosophila) chr10 60549457 NM_001080512 c.C811G p.L271V exonic . . . 0.98 D 11 BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated,chr10 170kDa 93749095 NM_003972 c.C2612T p.P871L exonic . . . 0.91 D 11 HLF hepatic leukemia factor chr17 53398119 NM_002126 c.G767A p.R256Q exonic . . . 1.00 D 11 CDC45 cell division cycle 45 chr22 19481906 splicing . . . . . 11 CCDC13 coiled-coil domain containing 13 chr3 42794192 NM_144719 c.G388A p.G130R exonic . . . 1.00 D 11 CYBRD1 cytochrome b reductase 1 chr2 172398124 NM_024843 c.T223A p.W75R exonic . . . 1.00 D 11 FAM20C family with sequence similarity 20, member C chr7 286467 NM_020223 c.T950C p.L317P exonic . . . 1.00 D 11 FRMD4A FERM domain containing 4A chr10 13696453 NM_018027 c.C3013G p.P1005A exonic . . . 0.98 D 11 GREB1L growth regulation by estrogen in breast cancer-like chr18 19080561 NM_001142966 c.C4030A p.L1344I exonic . . . 0.99 D 11 HSPA2 heat shock 70kDa protein 2 chr14 65008606 NM_021979 c.C1039T p.P347S exonic . . . 1.00 D 11 SLC27A1 solute carrier family 27 (fatty acid transporter), member 1 chr19 17611637 NM_198580 c.C1588T p.R530C exonic . . . 0.95 D 11 NEB nebulin chr2 152536234 splicing . . . . . 11 DNAH5 dynein, axonemal, heavy chain 5 chr5 13867891 NM_001369 c.T4045C p.Y1349H exonic . . . 0.97 D 11 CBWD3 COBW domain containing 3 chr9 70483188 NM_001024916 c.G430A p.G144S exonic . . . 0.98 D 11 CBWD6 COBW domain containing 6 chr9 69255604 NM_001085457 c.G430A p.G144S exonic . . . 0.98 D 11 MUC4 mucin 4, cell surface associated chr3 195515134 NM_018406 c.C3317A p.P1106H exonic . . . 0.99 D 11 HTT huntingtin chr4 3213815 NM_002111 c.C6574A p.P2192T exonic . . . 1.00 D 11 ITIH6 inter-alpha-trypsin inhibitor heavy chain family, member 6 chrX 54786351 NM_198510 c.G913A p.A305T exonic . . . 0.99 D 11 KRTAP10-7 keratin associated protein 10-7 chr21 46020670 splicing . . . . . 11 LRRC15 leucine rich repeat containing 15 chr3 194080560 NM_130830 c.C1213T p.P405S exonic . . . 1.00 D 11 LMO7 LIM domain 7 chr13 76414558 NM_015842 c.G2810A p.R937H exonic . . . 1.00 D 11 OR6C75 olfactory receptor, family 6, subfamily C, member 75 chr12 55759244 NM_001005497 c.C350G p.S117C exonic . . . 0.97 D 11 PPP1R13B protein phosphatase 1, regulatory subunit 13B chr14 104212769 NM_015316 c.C1091G p.P364R exonic . . . 0.99 D 11 ILF3 interleukin enhancer binding factor 3, 90kDa chr19 10787908 NM_001137673 c.A481C p.K161Q exonic . . . 1.00 D 11 ATXN2 ataxin 2 chr12 111948287 NM_002973 c.G2138T p.G713V exonic . . . 0.93 D 11 DNAH3 dynein, axonemal, heavy chain 3 chr16 20974776 NM_017539 c.G10430A p.R3477Q exonic . . . 1.00 D 11 TBC1D3C TBC1 domain family, member 3C chr17 34581599 NM_001001418 c.C1451A p.S484Y exonic . . . 1.00 D 11 SALL2 spalt-like transcription factor 2 chr14 21993785 NM_005407 c.A77T p.D26V exonic . . . 1.00 D 11 TBC1D3B TBC1 domain family, member 3B chr17 34493574 NM_001001417 c.C1451A p.S484Y exonic . . . 1.00 D 11 TBC1D3H TBC1 domain family, member 3H chr17 34746633 NM_001123392 c.C1451A p.S484Y exonic . . . 0.99 D 11 TPTE2 transmembrane phosphoinositide 3-phosphatase and tensin homologchr13 2 20038600 NM_130785 c.T506C p.I169T exonic . . . 1.00 D 11 GPA33 glycoprotein A33 (transmembrane) chr1 167024966 splicing . . . . . 12 CTBP2 C-terminal binding protein 2 chr10 126681800 NM_022802 c.C2630T p.A877V exonic . . . 0.96 D 12 CTBP2 C-terminal binding protein 2 chr10 126681869 NM_022802 c.C2561G p.P854R exonic . . . 1.00 D 12 CTAGE9 CTAGE family, member 9 chr6 132030242 NM_001145659 c.C1916T p.P639L exonic . . . 0.97 D 12 DAK dihydroxyacetone kinase 2 homolog (S. cerevisiae) chr11 61111331 NM_015533 c.C986T p.A329V exonic . . . 0.93 D 12 KLHL33 kelch-like family member 33 chr14 20897189 NM_001109997 c.G1421C p.S474T exonic . . . 0.94 D 12 NAT10 N-acetyltransferase 10 (GCN5-related) chr11 34152409 NM_001144030 c.C1078T p.R360C exonic . . . 1.00 D 12 GGT5 gamma-glutamyltransferase 5 chr22 24621251 NM_001099782 c.G1369A p.G457R exonic . . . 1.00 D 12 ECD ecdysoneless homolog (Drosophila) chr10 74914199 NM_001135752 c.G598C p.E200Q exonic . . . 0.95 D 12 CDC27 cell division cycle 27 chr17 45214654 NM_001114091 c.G1795A p.A599T exonic . . . 0.93 D 12 TYRO3 TYRO3 protein tyrosine kinase chr15 41865199 splicing . . . . . 12 USP37 ubiquitin specific peptidase 37 chr2 219320418 NM_020935 c.G2737A p.D913N exonic . . . 0.95 D 12 VIPR1 vasoactive intestinal peptide receptor 1 chr3 42569589 NM_001251884 c.G466T p.E156X exonic . . . . . 13 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 chr2 44055158 NM_022436 c.C598G p.R200G exonic . . . 0.92 D 13 AHNAK AHNAK nucleoprotein chr11 62288639 NM_001620 c.C13250G p.P4417R exonic . . . 1.00 D 13 AGAP4 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 chr10 46322511 NM_133446 c.G844A p.V282I exonic . . . 1.00 D 13 KIF1A kinesin family member 1A chr2 241679756 NM_004321 c.C3472T p.R1158C exonic . . . 0.96 D 13 TUBB1 tubulin, beta 1 class VI chr20 57598903 NM_030773 c.G421A p.G141R exonic . . . 1.00 D 13 CDH1 cadherin 1, type 1, E-cadherin (epithelial) chr16 68835573 NM_004360 c.T164G p.V55G exonic . . . 1.00 D 13 C7 complement component 7 chr5 40947888 NM_000587 c.C923G p.S308W exonic . . . 1.00 D 13 FMO3 flavin containing monooxygenase 3 chr1 171061824 NM_001002294 c.G25A p.G9R exonic . . . 1.00 D 13 MUC4 mucin 4, cell surface associated chr3 195507118 NM_018406 c.C11333A p.P3778H exonic . . . 0.95 D 13 MAN1C1 mannosidase, alpha, class 1C, member 1 chr1 26110224 NM_020379 c.C1837G p.H613D exonic . . . 1.00 D 13 PRRC2B proline-rich coiled-coil 2B chr9 134363442 NM_013318 c.G6184A p.G2062S exonic . . . 0.97 D 13 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide chr4 100063927 NM_000670 c.T23G p.I8S exonic . . . 1.00 D 13 PDGFRA platelet-derived growth factor receptor, alpha polypeptide chr4 55156534 NM_006206 c.C2935T p.R979C exonic . . . 1.00 D 13 SKA3 spindle and kinetochore associated complex subunit 3 chr13 21729945 NM_145061 c.A1125T p.L375F exonic . . . 0.96 D 13 ZNF574 zinc finger protein 574 chr19 42583435 NM_022752 c.C677T p.P226L exonic . . . 0.94 D 14 ACE angiotensin I converting enzyme chr17 61568315 NM_001178057 c.G920A p.G307E exonic . . . 1.00 D 14 AVL9 AVL9 homolog (S. cerevisiase) chr7 32582865 NM_015060 c.A206G p.Y69C exonic . . . 0.98 D 14 BAI3 brain-specific angiogenesis inhibitor 3 chr6 70040429 NM_001704 c.T3067C p.Y1023H exonic . . . 1.00 D 14 CDH13 cadherin 13 chr16 83704563 NM_001220489 c.C1153G p.L385V exonic . . . 1.00 D 14 CBX2 chromobox homolog 2 chr17 77757598 NM_005189 c.C356T p.S119F exonic . . . 1.00 D 14 DPCR1 diffuse panbronchiolitis critical region 1 chr6 30916627 NM_080870 c.G386T p.G129V exonic . . . 0.99 D 14 DISC1 disrupted in schizophrenia 1 chr1 231837743 NM_001012957 c.G1090A p.A364T exonic . . . 0.99 D 14 FSTL4 follistatin-like 4 chr5 132559900 NM_015082 c.A1321C p.I441L exonic . . . 0.98 D 14 GDF2 growth differentiation factor 2 chr10 48416392 NM_016204 c.C302G p.S101W exonic . . . 0.98 D 14 HARS histidyl-tRNA synthetase chr5 140056322 NM_002109 c.G1111A p.D371N exonic . . . 1.00 D 14 ARSD arylsulfatase D chrX 2833638 NM_001669 c.G959A p.G320D exonic . . . 0.99 D 14 TGM2 transglutaminase 2 chr20 36758761 NM_004613 c.G1924A p.V642M exonic . . . 1.00 D 14 GCSH glycine cleavage system protein H (aminomethyl carrier) chr16 81118100 NM_004483 c.C392T p.P131L exonic . . . 0.97 D 14 C16orf92 chromosome 16 open reading frame 92 chr16 30035404 NM_001109659 c.A308C p.H103P exonic . . . 1.00 D 14 KXD1 KxDL motif containing 1 chr19 18679287 NM_001171949 c.C377T p.T126I exonic . . . 1.00 D 14 LRRC14 leucine rich repeat containing 14 chr8 145746041 NM_014665 c.T749C p.L250P exonic . . . 1.00 D 14 MB21D1 Mab-21 domain containing 1 chr6 74138504 NM_138441 c.T1145G p.I382S exonic . . . 0.95 D 14 NOTCH2 notch 2 chr1 120529603 NM_001200001 c.G854A p.R285H exonic . . . 1.00 D 14 PANK4 pantothenate kinase 4 chr1 2453233 NM_018216 c.C131G p.S44W exonic . . . 1.00 D 14 RGPD1 RANBP2-like and GRIP domain containing 1 chr2 88083286 NM_001024457 c.G3233A p.G1078D exonic . . . 1.00 D 14 SGOL1 shugoshin-like 1 (S. pombe) chr3 20212534 splicing . . . . . 14 SLC27A6 solute carrier family 27 (fatty acid transporter), member 6 chr5 128351588 NM_001017372 c.A980T p.E327V exonic . . . 0.99 D 14 SLC35E2 solute carrier family 35, member E2 chr1 1670815 NM_182838 c.C182T p.T61I exonic . . . 1.00 D 14 SLC35E2B solute carrier family 35, member E2B chr1 1607957 NM_001110781 c.C182T p.T61I exonic . . . 0.96 D 14 SCRG1 stimulator of chondrogenesis 1 chr4 174312376 NM_007281 c.G190T p.G64X exonic . . . . . 14 SAFB2 scaffold attachment factor B2 chr19 5587710 splicing . . . . . 14 TMC5 transmembrane channel-like 5 chr16 19501847 NM_024780 c.A1966T p.I656F exonic . . . 1.00 D 14 TUBGCP6 tubulin, gamma complex associated protein 6 chr22 50659487 NM_020461 c.C3301T p.R1101W exonic . . . 0.99 D 14 TSHZ3 teashirt zinc finger homeobox 3 chr19 31768363 NM_020856 c.G2336A p.R779H exonic . . . 0.99 D 14 ZBBX zinc finger, B-box domain containing chr3 167034804 NM_001199201 c.G1183A p.E395K exonic . . . 0.97 D 15 ADAD2 adenosine deaminase domain containing 2 chr16 84229924 NM_001145400 c.G1474C p.G492R exonic . . . 1.00 D 15 BCAP31 B-cell receptor-associated protein 31 chrX 152981108 NM_001139441 c.C230T p.T77M exonic . . . 0.98 D 15 BOLL boule-like RNA-binding protein chr2 198646489 NM_033030 c.C86T p.T29I exonic . . . 1.00 D 15 BCKDK branched chain ketoacid dehydrogenase kinase chr16 31123542 NM_005881 c.C1195T p.R399W exonic . . . 0.99 D 15 ABL1 c-abl oncogene 1, non-receptor tyrosine kinase chr9 133729493 NM_005157 c.G122A p.G41D exonic . . . 0.92 D 15 MST1 macrophage stimulating 1 (hepatocyte growth factor-like) chr3 49723744 splicing . . . . . 15 C4BPA complement component 4 binding protein, alpha chr1 207287456 NM_000715 c.C154G p.P52A exonic . . . 0.95 D 15 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 chr14 102510737 NM_001376 c.C12811T p.R4271C exonic . . . 0.91 D 15 DMBT1 deleted in malignant brain tumors 1 chr10 124339274 NM_004406 c.C860A p.A287D exonic . . . 1.00 D 15 EBNA1BP2 EBNA1 binding protein 2 chr1 43637631 NM_006824 c.G76T p.A26S exonic . . . 1.00 D 15 FAM21 family with sequence similarity 21 chr10 46264895 splicing . . . . . 15 FBLN1 fibulin 1 chr22 45946446 NM_001996 c.C1648T p.R550C exonic . . . 1.00 D 15 ARHGAP24 Rho GTPase activating protein 24 chr4 86852096 NM_031305 c.C13T p.R5W exonic . . . 0.99 D 15 CHD1L chromodomain helicase DNA binding protein 1-like chr1 146740450 NM_001256338 c.C386G p.P129R exonic . . . 0.98 D 15 MPO myeloperoxidase chr17 56351018 NM_000250 c.C1378T p.R460W exonic . . . 0.99 D 15 MYO19 myosin XIX chr17 34863297 NM_001163735 c.C1408T p.Q470X exonic . . . . . 15 NRXN3 neurexin 3 chr14 79433553 NM_004796 c.A1661G p.Y554C exonic . . . 0.99 D 15 NBAS neuroblastoma amplified sequence chr2 15676570 NM_015909 c.C619T p.R207X exonic . . . . . 15 NR1H2 nuclear receptor subfamily 1, group H, member 2 chr19 50885774 NM_007121 c.T1298C p.L433P exonic . . . 0.98 D 15 OPN1MW opsin 1 (cone pigments), medium-wave-sensitive chrX 153457219 NM_000513 c.G619A p.V207M exonic . . . 0.98 D 15 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 chrX 69646227 NM_001171191 c.C133G p.L45V exonic . . . 0.99 D 15 PRAMEF14 PRAME family member 14 chr1 13670558 splicing . . . . . 15 PRR21 proline rich 21 chr2 240981808 NM_001080835 c.G592T p.G198C exonic . . . 0.99 D 15 CDH3 cadherin 3, type 1, P-cadherin (placental) chr16 68714922 NM_001793 c.G919A p.G307S exonic . . . 1.00 D 15 KIAA1549L KIAA1549-like chr11 33640167 NM_012194 c.C4477T p.R1493W exonic . . . 1.00 D 15 RBM20 RNA binding motif protein 20 chr10 112572124 NM_001134363 c.T1969A p.S657T exonic . . . 0.99 D 15 RBM20 RNA binding motif protein 20 chr10 112572125 NM_001134363 c.C1970G p.S657C exonic . . . 1.00 D 15 GRHL3 grainyhead-like 3 (Drosophila) chr1 24664558 NM_001195010 c.G779A p.R260Q exonic . . . 1.00 D 15 SRCAP Snf2-related CREBBP activator protein chr16 30727769 NM_006662 c.T2786C p.V929A exonic . . . 1.00 D 15 TRAPPC11 trafficking protein particle complex 11 chr4 184612587 NM_021942 c.T2012A p.F671Y exonic . . . 1.00 D 15 VPS26B vacuolar protein sorting 26 homolog B (S. pombe) chr11 134095148 NM_052875 c.G132T p.E44D exonic . . . 1.00 D 16 HTR3B 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic chr11 113802546 NM_006028 c.C325A p.P109T exonic . . . 0.99 D 16 ARFGAP2 ADP-ribosylation factor GTPase activating protein 2 chr11 47196848 NM_001242832 c.A281G p.Q94R exonic . . . 1.00 D 16 ALPK3 alpha-kinase 3 chr15 85411482 NM_020778 c.A5519G p.K1840R exonic . . . 1.00 D 16 ANLN anillin, actin binding protein chr7 36459017 NM_018685 c.G1798C p.D600H exonic . . . 0.97 D 16 BOP1 block of proliferation 1 chr8 145487723 NM_015201 c.C1249T p.R417W exonic . . . 1.00 D 16 CA2 carbonic anhydrase II chr8 86392968 NM_000067 c.C733T p.R245C exonic . . . 1.00 D 16 AUP1 ancient ubiquitous protein 1 chr2 74754718 splicing . . . . . 16 KIAA1522 KIAA1522 chr1 33236672 NM_001198972 c.C1715T p.T572M exonic . . . 1.00 D 16 NBPF16 neuroblastoma breakpoint family, member 16 chr1 148756454 NM_001102663 c.C1783G p.L595V exonic . . . 0.97 D 16 CHD9 chromodomain helicase DNA binding protein 9 chr16 53348361 NM_025134 c.G7247A p.R2416Q exonic . . . 0.99 D 16 CCHCR1 coiled-coil alpha-helical rod protein 1 chr6 31113586 splicing . . . . . 16 CCDC112 coiled-coil domain containing 112 chr5 114611068 NM_001040440 c.C763A p.H255N exonic . . . 1.00 D 16 EPS8L3 EPS8-like 3 chr1 110301152 NM_024526 c.G595C p.E199Q exonic . . . 0.92 D 16 LYST lysosomal trafficking regulator chr1 235872576 NM_000081 c.C9958T p.R3320W exonic . . . 1.00 D 16 COL16A1 collagen, type XVI, alpha 1 chr1 32150176 NM_001856 c.G2108C p.G703A exonic . . . 1.00 D 16 DIAPH1 diaphanous-related formin 1 chr5 140953175 NM_001079812 c.C2215A p.P739T exonic . . . 1.00 D 16 KIAA0196 KIAA0196 chr8 126056801 NM_014846 c.T2644G p.F882V exonic . . . 1.00 D 16 KIF19 kinesin family member 19 chr17 72350690 NM_153209 c.G2698T p.G900W exonic . . . 0.98 D 16 MGAM maltase-glucoamylase (alpha-glucosidase) chr7 141734516 NM_004668 c.C1834T p.R612C exonic . . . 1.00 D 16 NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 chr5 149924891 NM_001543 c.C1988T p.P663L exonic . . . 1.00 D 16 PNPLA7 patatin-like phospholipase domain containing 7 chr9 140392614 NM_152286 c.A1766G p.D589G exonic . . . 0.97 D 16 PADI1 peptidyl arginine deiminase, type I chr1 17555492 NM_013358 c.C875T p.A292V exonic . . . 1.00 D 16 SREBF1 sterol regulatory element binding transcription factor 1 chr17 17716721 NM_004176 c.C3175T p.R1059C exonic . . . 1.00 D 16 MAST4 microtubule associated serine/threonine kinase family member 4 chr5 66396390 NM_015183 c.C473T p.T158M exonic . . . 0.99 D 16 PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3 chr18 39550418 NM_002647 c.A529G p.K177E exonic . . . 0.97 D 16 DHX38 DEAH (Asp-Glu-Ala-His) box polypeptide 38 chr16 72138025 NM_014003 c.C2005T p.R669W exonic . . . 1.00 D 16 TECPR2 tectonin beta-propeller repeat containing 2 chr14 102916956 NM_001172631 c.G3376A p.V1126M exonic . . . 0.99 D 16 TMCC2 transmembrane and coiled-coil domain family 2 chr1 205238180 NM_001242925 c.C616T p.R206W exonic . . . 1.00 D 16 TNK2 tyrosine kinase, non-receptor, 2 chr3 195596385 NM_001010938 c.C1760T p.P587L exonic . . . 1.00 D 16 VPS28 vacuolar protein sorting 28 homolog (S. cerevisiae) chr8 145650330 NM_016208 c.G299A p.R100H exonic . . . 0.94 D 16 ZNF471 zinc finger protein 471 chr19 57036544 NM_020813 c.A1108T p.T370S exonic . . . 0.94 D 17 NAGK N-acetylglucosamine kinase chr2 71299828 NM_017567 c.G551T p.G184V exonic . . . 1.00 D 17 SLC44A5 solute carrier family 44, member 5 chr1 76007130 NM_001130058 c.G3A p.M1I exonic . . . 0.98 D 17 DUX4L4 double homeobox 4 like 4 chr4 190993578 NM_001177376 c.G1375C p.E459Q exonic . . . 0.99 D 17 GAB2 GRB2-associated binding protein 2 chr11 77961311 NM_012296 c.C398T p.T133M exonic . . . 1.00 D 17 ADPGK ADP-dependent glucokinase chr15 73052747 splicing . . . . . 17 KALRN kalirin, RhoGEF kinase chr3 124053254 NM_001024660 c.A1553G p.Q518R exonic . . . 0.93 D 17 DPY19L4 dpy-19-like 4 (C. elegans) chr8 95800162 NM_181787 c.A1889G p.Y630C exonic . . . 1.00 D 17 RASSF2 Ras association (RalGDS/AF-6) domain family member 2 chr20 4776488 NM_170774 c.A260G p.H87R exonic . . . 0.96 D 17 ODZ3 teneurin transmembrane protein 3 chr4 183267808 NM_001080477 c.G237C p.Q79H exonic . . . 0.99 D 17 TNRC18 trinucleotide repeat containing 18 chr7 5354720 NM_001080495 c.A6922G p.S2308G exonic . . . 0.99 D 17 MRPL45 mitochondrial ribosomal protein L45 chr17 36474618 NM_032351 c.C494A p.T165N exonic . . . 1.00 D 17 MEGF10 multiple EGF-like-domains 10 chr5 126754834 NM_001256545 c.G1328A p.C443Y exonic . . . 0.98 D 17 NFRKB nuclear factor related to kappaB binding protein chr11 129755398 NM_006165 c.G611A p.R204H exonic . . . 1.00 D 17 PCOLCE procollagen C-endopeptidase enhancer chr7 100204134 NM_002593 c.C821T p.P274L exonic . . . 0.96 D 17 ILF3 interleukin enhancer binding factor 3, 90kDa chr19 10794171 NM_001137673 c.A1816G p.K606E exonic . . . 0.99 D 17 MUTYH mutY homolog chr1 45797963 NM_001048171 c.G766C p.V256L exonic . . . 0.92 D 17 MKI67 marker of proliferation Ki-67 chr10 129902854 NM_001145966 c.T6170C p.L2057S exonic . . . 0.97 D 17 SKA1 spindle and kinetochore associated complex subunit 1 chr18 47908500 NM_001039535 c.A215G p.E72G exonic . . . 1.00 D 18 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67954721 splicing . . . . . 18 ALG1L ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-likechr3 125651504 NM_001015050 c.G149A p.C50Y exonic . . . 1.00 D 18 CEP128 centrosomal protein 128kDa chr14 81227884 NM_152446 c.T2450C p.L817P exonic . . . 1.00 D 18 COL20A1 collagen, type XX, alpha 1 chr20 61938979 NM_020882 c.G634A p.G212R exonic . . . 0.97 D 18 COL21A1 collagen, type XXI, alpha 1 chr6 56035644 NM_030820 c.C829T p.L277F exonic . . . 1.00 D 18 CPNE7 copine VII chr16 89644040 NM_014427 c.C268T p.R90C exonic . . . 0.99 D 18 DTX2 deltex homolog 2 (Drosophila) chr7 76109831 NM_001102596 c.C5T p.A2V exonic . . . 0.91 D 18 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 chr9 107594107 NM_005502 c.G1511A p.C504Y exonic . . . 1.00 D 18 ZNF341 zinc finger protein 341 chr20 32346609 NM_032819 c.G1004A p.R335Q exonic . . . 1.00 D 18 ZW10 zw10 kinetochore protein chr11 113610054 NM_004724 c.G1634C p.C545S exonic . . . 1.00 D 18 RASAL2 RAS protein activator like 2 chr1 178414797 NM_004841 c.G1183A p.G395R exonic . . . 1.00 D 18 SPATA31A3 SPATA31 subfamily A, member 3 chr9 40703583 NM_001083124 c.C1240T p.Q414X exonic . . . . . 18 LAPTM5 lysosomal protein transmembrane 5 chr1 31212759 NM_006762 c.T284C p.F95S exonic . . . 1.00 D 18 NCF4 neutrophil cytosolic factor 4, 40kDa chr22 37261012 NM_000631 c.C169T p.R57C exonic . . . 1.00 D 18 NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cellschr3 inhibitor, 101576029 zeta splicing . . . . . 18 PIEZO2 piezo-type mechanosensitive ion channel component 2 chr18 10773601 NM_022068 c.C2519G p.P840R exonic . . . 0.94 D 18 PAPLN papilin, proteoglycan-like sulfated glycoprotein chr14 73716721 NM_173462 c.C364T p.P122S exonic . . . 0.96 D 18 RTTN rotatin chr18 67864909 NM_173630 c.T644C p.M215T exonic . . . 1.00 D 18 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 chr21 15882748 NM_022136 c.C444G p.N148K exonic . . . 1.00 D 18 SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin),chr14 member 95088700 3 NM_001085 c.C940T p.P314S exonic . . . 0.99 D 18 TEK TEK tyrosine kinase, endothelial chr9 27205032 NM_000459 c.A2333G p.Q778R exonic . . . 0.97 D 18 SP140 SP140 nuclear body protein chr2 231157480 NM_007237 c.T1945G p.W649G exonic . . . 0.97 D 18 TBX22 T-box 22 chrX 79281197 NM_016954 c.C554T p.S185L exonic . . . 0.97 D 18 TLE1 transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) chr9 84228343 NM_005077 c.C1012T p.R338C exonic . . . 1.00 D 18 SCN3B sodium channel, voltage-gated, type III, beta subunit chr11 123516353 NM_018400 c.T161G p.V54G exonic . . . 0.97 D 19 ABCB9 ATP-binding cassette, sub-family B (MDR/TAP), member 9 chr12 123425419 NM_019624 c.G1375A p.G459S exonic . . . 1.00 D 19 KLHDC2 kelch domain containing 2 chr14 50249311 NM_014315 c.C1096T p.R366W exonic . . . 0.99 D 19 CCDC43 coiled-coil domain containing 43 chr17 42759370 splicing . . . . . 19 CCDC8 coiled-coil domain containing 8 chr19 46914654 NM_032040 c.C1414T p.R472W exonic . . . 0.92 D 19 CCNI2 cyclin I family, member 2 chr5 132086670 NM_001039780 c.C755T p.P252L exonic . . . 0.97 D 19 CSRNP3 cysteine-serine-rich nuclear protein 3 chr2 166514393 NM_024969 c.A271C p.T91P exonic . . . 1.00 D 19 DUX4L4 double homeobox 4 like 4 chr4 190993564 NM_001177376 c.C1361T p.T454M exonic . . . 1.00 D 19 EFCAB4B EF-hand calcium binding domain 4B chr12 3742875 NM_001144958 c.C1630T p.R544W exonic . . . 1.00 D 19 TEKT4 tektin 4 chr2 95542482 NM_144705 c.C1276A p.P426T exonic . . . 1.00 D 19 KRT13 keratin 13 chr17 39659065 splicing . . . . . 19 KIF2C kinesin family member 2C chr1 45225972 NM_006845 c.C1388T p.A463V exonic . . . 0.95 D 19 PCNX pecanex homolog (Drosophila) chr14 71575377 NM_014982 c.C6358T p.R2120W exonic . . . 1.00 D 19 SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase chr16 18879624 NM_015092 c.C3083T p.T1028M exonic . . . 0.99 D 19 TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associatedchrX factor, 70601671 250kDa NM_004606 c.G1499A p.R500H exonic . . . 0.93 D 19 RGPD5 RANBP2-like and GRIP domain containing 5 chr2 113175466 NM_001164463 c.A431T p.E144V exonic . . . 0.98 D 19 SPG11 spastic paraplegia 11 (autosomal recessive) chr15 44876464 NM_001160227 c.G5414A p.R1805H exonic . . . 1.00 D 19 TMPRSS9 transmembrane protease, serine 9 chr19 2421989 NM_182973 c.G2190C p.W730C exonic . . . 0.99 D 19 USP2 ubiquitin specific peptidase 2 chr11 119244162 NM_004205 c.G29T p.R10L exonic . . . 1.00 D 20 SOAT2 sterol O-acyltransferase 2 chr12 53517632 NM_003578 c.C1493T p.A498V exonic . . . 0.94 D 20 PPIH peptidylprolyl isomerase H (cyclophilin H) chr1 43125233 NM_006347 c.C196T p.H66Y exonic . . . 0.95 D 20 CTSC cathepsin C chr11 88027595 NM_001814 c.A971C p.Y324S exonic . . . 1.00 D 20 SPIB Spi-B transcription factor (Spi-1/PU.1 related) chr19 50931390 NM_001243998 c.G313A p.G105S exonic . . . 1.00 D 20 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 chr2 236945289 NM_014914 c.A1571G p.D524G exonic . . . 1.00 D 20 CENPF centromere protein F, 350/400kDa chr1 214794038 NM_016343 c.G614A p.R205H exonic . . . 1.00 D 20 CCDC81 coiled-coil domain containing 81 chr11 86120329 NM_021827 c.G870T p.Q290H exonic . . . 1.00 D 20 CDK11A cyclin-dependent kinase 11A chr1 1635334 NM_024011 c.G1840C p.G614R exonic . . . 1.00 D 20 FAM120B family with sequence similarity 120B chr6 170632228 NM_032448 c.G1796A p.G599E exonic . . . 1.00 D 20 GON4L gon-4-like (C. elegans) chr1 155720514 NM_001037533 c.G6584A p.R2195H exonic . . . 1.00 D 20 PTPRD protein tyrosine phosphatase, receptor type, D chr9 8341796 NM_001171025 c.G3623A p.C1208Y exonic . . . 0.96 D 20 SP100 SP100 nuclear antigen chr2 231405676 NM_001080391 c.G2296T p.V766F exonic . . . 0.96 D 20 LPPR4 lipid phosphate phosphatase-related protein type 4 chr1 99772415 NM_001166252 c.G1967T p.G656V exonic . . . 0.93 D 20 PRKCQ protein kinase C, theta chr10 6528042 NM_001242413 c.G855C p.Q285H exonic . . . 1.00 D 20 RASA4 RAS p21 protein activator 4 chr7 102228180 NM_001079877 c.G1868A p.R623Q exonic . . . 0.93 D 20 TCTN3 tectonic family member 3 chr10 97424006 NM_001143973 c.G1198T p.D400Y exonic . . . 1.00 D 20 ARHGEF17 Rho guanine nucleotide exchange factor (GEF) 17 chr11 73022457 NM_014786 c.G2774A p.R925H exonic . . . 0.96 D 20 SRP9 signal recognition particle 9kDa chr1 225971053 NM_001130440 c.G124A p.V42I exonic . . . 0.95 D 20 SLC7A14 solute carrier family 7, member 14 chr3 170198825 NM_020949 c.C1246T p.L416F exonic . . . 1.00 D 20 SP140 SP140 nuclear body protein chr2 231162158 NM_007237 c.A2039G p.N680S exonic . . . 0.95 D 20 SPATA31A1 SPATA31 subfamily A, member 1 chr9 39360728 NM_001040065 c.C2966A p.S989Y exonic . . . 0.95 D 20 SPATA31A1 SPATA31 subfamily A, member 1 chr9 39889979 NM_001040065 c.C2966A p.S989Y exonic . . . 0.94 D 20 DMXL1 Dmx-like 1 chr5 118533644 NM_005509 c.C7738T p.P2580S exonic . . . 1.00 D 21 ADRA2A adrenoceptor alpha 2A chr10 112838117 NM_000681 c.C363G p.C121W exonic . . . 1.00 D 21 ATXN1L ataxin 1-like chr16 71883663 NM_001137675 c.G20A p.R7K exonic . . . 0.99 D 21 AP3D1 adaptor-related protein complex 3, delta 1 subunit chr19 2108727 NM_003938 c.C3325T p.R1109C exonic . . . 1.00 D 21 CENPP centromere protein P chr9 95373639 NM_001012267 c.C608T p.S203F exonic . . . 0.98 D 21 CCDC135 coiled-coil domain containing 135 chr16 57755619 NM_032269 c.C1247T p.S416L exonic . . . 0.98 D 21 CNTN5 contactin 5 chr11 100169955 NM_175566 c.A2225G p.N742S exonic . . . 1.00 D 21 DENND2C DENN/MADD domain containing 2C chr1 115130471 NM_198459 c.G2363C p.R788P exonic . . . 0.98 D 21 FAM205A family with sequence similarity 205, member A chr9 34723391 NM_001141917 c.G3846C p.K1282N exonic . . . 0.96 D 21 FAM190B coiled-coil serine-rich protein 2 chr10 86259689 NM_018999 c.G2384A p.R795Q exonic . . . 1.00 D 21 HIST1H2AH histone cluster 1, H2ah chr6 27114986 NM_080596 c.C79A p.P27T exonic . . . 0.99 D 21 EML5 echinoderm microtubule associated protein like 5 chr14 89091435 NM_183387 c.G4777A p.V1593I exonic . . . 0.99 D 21 FAM160B2 family with sequence similarity 160, member B2 chr8 21958104 splicing . . . . . 21 DNAH9 dynein, axonemal, heavy chain 9 chr17 11835353 NM_004662 c.G1064A p.R355Q exonic . . . 0.94 D 21 MCAM melanoma cell adhesion molecule chr11 119185250 NM_006500 c.C508T p.P170S exonic . . . 1.00 D 21 MUC4 mucin 4, cell surface associated chr3 195506626 NM_018406 c.C11825T p.T3942I exonic . . . 0.93 D 21 C5orf60 chromosome 5 open reading frame 60 chr5 179070083 NM_001142306 c.C470T p.P157L exonic . . . 0.96 D 21 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147580035 NM_001101663 c.A2039G p.Y680C exonic . . . 0.97 D 21 NCAPD2 non-SMC condensin I complex, subunit D2 chr12 6626990 NM_014865 c.A1454G p.E485G exonic . . . 1.00 D 21 PCDHGB7 protocadherin gamma subfamily B, 7 chr5 140797851 NM_018927 c.T425A p.I142N exonic . . . 1.00 D 21 ALDH16A1 aldehyde dehydrogenase 16 family, member A1 chr19 49969036 NM_001145396 c.A1457G p.Q486R exonic . . . 0.97 D 21 MGEA5 meningioma expressed antigen 5 (hyaluronidase) chr10 103559057 NM_001142434 c.C1192G p.L398V exonic . . . 0.95 D 21 ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila) chr11 124756720 splicing . . . . . 21 SDK2 sidekick cell adhesion molecule 2 chr17 71354244 NM_001144952 c.G5567A p.R1856H exonic . . . 0.92 D 21 RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3 chr12 48131861 NM_001098532 c.T2471C p.L824P exonic . . . 0.94 D 21 TACC2 transforming, acidic coiled-coil containing protein 2 chr10 123970977 NM_006997 c.A1271G p.N424S exonic . . . 1.00 D 22 APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucinechr12 zipper 105571003 containing 2 splicing . . . . . 22 ANKRD20A4 ankyrin repeat domain 20 family, member A4 chr9 69385933 NM_001098805 c.G370A p.A124T exonic . . . 0.99 D 22 CD22 CD22 molecule chr19 35836021 NM_001185101 c.A1669C p.N557H exonic . . . 0.99 D 22 TGM1 transglutaminase 1 chr14 24729896 NM_000359 c.C517G p.P173A exonic . . . 1.00 D 22 FGD3 FYVE, RhoGEF and PH domain containing 3 chr9 95772595 NM_001083536 c.G905C p.R302P exonic . . . 1.00 D 22 GTF2I general transcription factor IIi chr7 74114640 NM_001163636 c.C437T p.S146L exonic . . . 0.99 D 22 AMPH amphiphysin chr7 38500971 NM_001635 c.C929A p.T310N exonic . . . 1.00 D 22 GABRR1 gamma-aminobutyric acid (GABA) A receptor, rho 1 chr6 89891746 NM_002042 c.C827T p.T276M exonic . . . 0.93 D 22 TAPT1 transmembrane anterior posterior transformation 1 chr4 16188435 NM_153365 c.A815G p.K272R exonic . . . 1.00 D 22 PEX14 peroxisomal biogenesis factor 14 chr1 10689734 NM_004565 c.C824T p.S275L exonic . . . 1.00 D 22 KIRREL2 kin of IRRE like 2 (Drosophila) chr19 36348373 NM_032123 c.T188C p.L63P exonic . . . 1.00 D 22 SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter)chr13 member 41373247 15 NM_014252 c.T110C p.M37T exonic . . . 0.99 D 22 OBP2B odorant binding protein 2B chr9 136083535 NM_014581 c.G262A p.G88S exonic . . . 1.00 D 22 OR4F6 olfactory receptor, family 4, subfamily F, member 6 chr15 102345947 NM_001005326 c.G25T p.V9F exonic . . . 0.92 D 22 PRDM15 PR domain containing 15 chr21 43274831 NM_001040424 c.C493T p.H165Y exonic . . . 0.99 D 22 PRAMEF16 PRAME family member 16 chr1 13497946 NM_001045480 c.C1243A p.P415T exonic . . . 1.00 D 22 PRAMEF17 PRAME family member 17 chr1 13718780 NM_001099851 c.C1243A p.P415T exonic . . . 1.00 D 22 PPFIA4 chr1 203025582 NM_015053 c.C668T p.T223M exonic . . . 0.92 D 22 RBM43 RNA binding motif protein 43 chr2 152112094 NM_198557 c.C167T p.P56L exonic . . . 1.00 D 22 SLC35E2 solute carrier family 35, member E2 chr1 1670731 NM_182838 c.C266T p.T89M exonic . . . 1.00 D 22 SLC35E2B solute carrier family 35, member E2B chr1 1607873 NM_001110781 c.C266T p.T89M exonic . . . 1.00 D 22 THBS4 thrombospondin 4 chr5 79366962 NM_003248 c.A1679G p.D560G exonic . . . 1.00 D Supplementary table 2B. Proband-shared variants Proband Gene Gene full name Chr Position RefSeqChange FunctionESP6500 1000 Genome SNP137 PolyPhen2 Nucleotide Amino acid Score 1 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927062 NM_001012419c.G190A p.D64N exonic . . . 1.00 1 ANKRD36 ankyrin repeat domain 36 chr2 97911750 NM_001164315c.A5426G p.E1809G exonic . . . 0.99 1 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 1 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 1 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 1 FAM120A family with sequence similarity 120A chr9 96326682 NM_014612 c.G3217C p.A1073P exonic . . . 1.00 1 FAM21C family with sequence similarity 21, member C chr10 46284890 NM_001169107 c.A3371G p.K1124R exonic . . . 0.99 1 FRG1 FSHD region gene 1 chr4 190883080 NM_004477 c.C733A p.L245M exonic . . . 1.00 1 KRT86 keratin 86 chr1252695854 NM_002284 c.G154C p.G52R exonic . . . 0.93 1 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 1 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 1 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148014182 NM_015383 c.C1130T p.T377I exonic . . . 1.00 1 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148007901 NM_015383 c.C2087T p.T696I exonic . . . 1.00 1 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25671451 NM_030979 c.A1115G p.E372G exonic . . . 0.98 1 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25670712 NM_030979 c.C376G p.L126V exonic . . . 0.93 1 RASSF1 Ras association (RalGDS/AF-6) domain family memberchr3 1 50375431 NM_007182 c.A262C p.T88P exonic . . . 0.99 1 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 1 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>T splicing. . . . 1 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927076 NM_032250 c.203+1G>A splicing . . . . 1 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 1 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 1 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 1 DUX2 double homeobox 2 chr10135498198 splicing. . . . 1 DUX4L3 double homeobox 4 like 3 chr10 135491589 splicing. . . . 1 NFKBIZ nuclear factor of kappa light polypeptide gene enhachr3ncer in 101576028 B-cells inhibitor, zeta splicing. . . . 2 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67934747 NM_001012419 c.G517A p.A173T exonic . . . 0.98 2 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927062 NM_001012419c.G190A p.D64N exonic . . . 1.00 2 ANKRD36 ankyrin repeat domain 36 chr2 97911750 NM_001164315c.A5426G p.E1809G exonic . . . 0.99 2 ARHGAP36 Rho GTPase activating protein 36 chrX 130217764 NM_144967 c.A376C p.T126P exonic . . . 0.99 2 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 2 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 2 CTBP2 C-terminal binding protein 2 chr10 126683225 NM_022802 c.G2213C p.R738P exonic . . . 0.98 2 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 2 FAM120A family with sequence similarity 120A chr9 96326682 NM_014612 c.G3217C p.A1073P exonic . . . 1.00 2 GRIK3 glutamate receptor, ionotropic, kainate 3 chr1 37319270 NM_000831 c.G1158T p.L386F exonic . . . 1.00 2 HNF1B HNF1 homeobox B chr17 36070591 NM_000458 c.A1126C p.T376P exonic . . . 0.92 2 KRT18 keratin 18 chr1253343231 NM_000224 c.G274C p.A92P exonic . . . 0.99 2 MUC4 mucin 4, cell surface associated chr3 195506581 NM_018406 c.A11870G p.D3957G exonic . . . 0.96 2 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146039133 NM_001101663 c.A1883G p.E628G exonic . . . 0.91 2 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 2 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 2 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148014182 NM_015383 c.C1130T p.T377I exonic . . . 1.00 2 PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransfchr8erase 52733120domain containing NM_052937 1 c.G865A p.V289I exonic . . . 0.99 2 PIF1 PIF1 5'-to-3' DNA helicase chr15 65114504 NM_025049 c.G778C p.A260P exonic . . . 1.00 2 POU2F2 POU class 2 homeobox 2 chr19 42596244 NM_001207025c.G1377T p.L459F exonic . . . 0.93 2 PRAMEF15 PRAME family member 15 chr1 13424057 NM_001010890c.C55G p.L19V exonic . . . 1.00 2 PSMB10 proteasome (prosome, macropain) subunit, beta type,chr1667970188 10 NM_002801 c.C172G p.R58G exonic . . . 1.00 2 RASSF1 Ras association (RalGDS/AF-6) domain family memberchr3 1 50375431 NM_007182 c.A262C p.T88P exonic . . . 0.99 2 SLC25A5 solute carrier family 25 (mitochondrial carrier; adeninechrX nucleotide 118603873 translocator), NM_001152 member 5 c.G361T p.G121C exonic . . . 0.95 2 SPDYE2 speedy/RINGO cell cycle regulator family memberchr7 E2 102196464 NM_001031618 c.A497T p.E166V exonic . . . 0.99 2 SPDYE2 speedy/RINGO cell cycle regulator family memberchr7 E2 102295548 NM_001031618 c.A497T p.E166V exonic . . . 0.99 2 TNXB tenascin XB chr6 32009879 NM_019105 c.G12373A p.E4125K exonic . . . 0.99 2 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 2 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>C splicing. . . . 2 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927076 NM_032250 c.203+1G>A splicing . . . . 2 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 2 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 2 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 2 DUX2 double homeobox 2 chr10135488290 splicing. . . . 2 DUX2 double homeobox 2 chr10135498198 splicing. . . . 2 RSPO1 R-spondin 1 chr1 38077351 splicing. . . . 3 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927062 NM_001012419c.G190A p.D64N exonic . . . 1.00 3 ANKRD36 ankyrin repeat domain 36 chr2 97845607 NM_001164315c.G1672A p.D558N exonic . . . 1.00 3 ANKRD36 ankyrin repeat domain 36 chr2 97911750 NM_001164315c.A5426G p.E1809G exonic . . . 0.99 3 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 3 CTBP2 C-terminal binding protein 2 chr10 126683243 NM_022802 c.G2195A p.G732E exonic . . . 0.93 3 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 3 CTBP2 C-terminal binding protein 2 chr10 126682452 NM_022802 c.C2503G p.L835V exonic . . . 0.94 3 CTBP2 C-terminal binding protein 2 chr10 126683225 NM_022802 c.G2213C p.R738P exonic . . . 0.98 3 CTBP2 C-terminal binding protein 2 chr10 126683235 NM_022802 c.G2203T p.V735F exonic . . . 1.00 3 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 3 FAM120A family with sequence similarity 120A chr9 96326682 NM_014612 c.G3217C p.A1073P exonic . . . 1.00 3 FAM75A5 SPATA31 subfamily A, member 5 chr9 41504503 NM_001113541c.G1775C p.S592T exonic . . . 0.98 3 FRG1 FSHD region gene 1 chr4 190883080 NM_004477 c.C733A p.L245M exonic . . . 1.00 3 FRG1 FSHD region gene 1 chr4 190883081 NM_004477 c.T734G p.L245R exonic . . . 1.00 3 GRIK3 glutamate receptor, ionotropic, kainate 3 chr1 37319270 NM_000831 c.G1158T p.L386F exonic . . . 1.00 3 HNF1B HNF1 homeobox B chr17 36070591 NM_000458 c.A1126C p.T376P exonic . . . 0.92 3 KCNH6 potassium voltage-gated channel, subfamily H (eag-rchr1761611569elated), member 6 NM_030779 c.A998C p.H333P exonic . . . 0.99 3 KIR3DL2 killer cell immunoglobulin-like receptor, three domains,chr19 long 55377325 cytoplasmic NM_001242867tail, 2 c.C1015T p.L339F exonic . . . 1.00 3 KRT18 keratin 18 chr1253343231 NM_000224 c.G274C p.A92P exonic . . . 0.99 3 KRT86 keratin 86 chr1252695854 NM_002284 c.G154C p.G52R exonic . . . 0.93 3 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147594545 NM_001101663 c.G571T p.V191L exonic . . . 0.94 3 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 3 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 3 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148014182 NM_015383 c.C1130T p.T377I exonic . . . 1.00 3 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148007901 NM_015383 c.C2087T p.T696I exonic . . . 1.00 3 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25670703 NM_030979 c.G367T p.G123C exonic . . . 1.00 3 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25670712 NM_030979 c.C376G p.L126V exonic . . . 0.93 3 POTEH POTE ankyrin domain family, member H chr22 16282203 NM_001136213 c.A863G p.D288G exonic . . . 0.98 3 POTEM POTE ankyrin domain family, member M chr14 20014557 NM_001145442 c.A752G p.D251G exonic . . . 1.00 3 POU2F2 POU class 2 homeobox 2 chr19 42596244 NM_001207025c.G1377T p.L459F exonic . . . 0.93 3 PRAMEF13 PRAME family member 13 chr1 13450097 NM_001024661c.A329G p.E110G exonic . . . 0.99 3 PRAMEF15 PRAME family member 15 chr1 13424057 NM_001010890c.C55G p.L19V exonic . . . 1.00 3 PSMB10 proteasome (prosome, macropain) subunit, beta type,chr1667970188 10 NM_002801 c.C172G p.R58G exonic . . . 1.00 3 RASSF1 Ras association (RalGDS/AF-6) domain family memberchr3 1 50375431 NM_007182 c.A262C p.T88P exonic . . . 0.99 3 SPDYE2 speedy/RINGO cell cycle regulator family memberchr7 E2 102196464 NM_001031618 c.A497T p.E166V exonic . . . 0.99 3 SPDYE2 speedy/RINGO cell cycle regulator family memberchr7 E2 102295548 NM_001031618 c.A497T p.E166V exonic . . . 0.99 3 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 3 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>C splicing. . . . 3 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927076 NM_032250 c.203+1G>A splicing . . . . 3 TDG thymine-DNA glycosylase chr12 104359839 NM_003211 c.23+1G>C splicing. . . . 3 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 3 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 3 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 3 DUX2 double homeobox 2 chr10135498198 splicing. . . . 3 DUX4L3 double homeobox 4 like 3 chr10 135491589 splicing. . . . 3 NFKBIZ nuclear factor of kappa light polypeptide gene enhachr3ncer in 101576028 B-cells inhibitor, zeta splicing. . . . 4 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67934747 NM_001012419 c.G517A p.A173T exonic . . . 0.98 4 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927062 NM_001012419c.G190A p.D64N exonic . . . 1.00 4 ANKRD36 ankyrin repeat domain 36 chr2 97845607 NM_001164315c.G1672A p.D558N exonic . . . 1.00 4 ANKRD36 ankyrin repeat domain 36 chr2 97911750 NM_001164315c.A5426G p.E1809G exonic . . . 0.99 4 AQP12B aquaporin 12B chr2 241621650 NM_001102467 c.C605T p.T202M exonic . . . 0.93 4 CDC27 cell division cycle 27 chr17 45219329 NM_001114091c.T1459G p.C487G exonic . . . 0.96 4 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 4 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 4 CTBP2 C-terminal binding protein 2 chr10 126682452 NM_022802 c.C2503G p.L835V exonic . . . 0.94 4 CTBP2 C-terminal binding protein 2 chr10 126683225 NM_022802 c.G2213C p.R738P exonic . . . 0.98 4 CTBP2 C-terminal binding protein 2 chr10 126683235 NM_022802 c.G2203T p.V735F exonic . . . 1.00 4 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 4 FAM75A5 SPATA31 subfamily A, member 5 chr9 41504503 NM_001113541c.G1775C p.S592T exonic . . . 0.98 4 FRG1 FSHD region gene 1 chr4 190883080 NM_004477 c.C733A p.L245M exonic . . . 1.00 4 FRG1 FSHD region gene 1 chr4 190883081 NM_004477 c.T734G p.L245R exonic . . . 1.00 4 GRIK3 glutamate receptor, ionotropic, kainate 3 chr1 37319270 NM_000831 c.G1158T p.L386F exonic . . . 1.00 4 KRT18 keratin 18 chr1253343231 NM_000224 c.G274C p.A92P exonic . . . 0.99 4 MUC4 mucin 4, cell surface associated chr3 195506494 NM_018406 c.C11957A p.P3986H exonic . . . 0.99 4 PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransfchr8erase 52733120domain containing NM_052937 1 c.G865A p.V289I exonic . . . 0.99 4 POU2F2 POU class 2 homeobox 2 chr19 42596244 NM_001207025c.G1377T p.L459F exonic . . . 0.93 4 SPDYE2 speedy/RINGO cell cycle regulator family memberchr7 E2 102196464 NM_001031618 c.A497T p.E166V exonic . . . 0.99 4 SPDYE2 speedy/RINGO cell cycle regulator family memberchr7 E2 102295548 NM_001031618 c.A497T p.E166V exonic . . . 0.99 4 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 4 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>T splicing. . . . 4 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927076 NM_032250 c.203+1G>A splicing . . . . 4 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 4 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146039794 splicing. . . . 4 NFKBIZ nuclear factor of kappa light polypeptide gene enhachr3ncer in 101576028 B-cells inhibitor, zeta splicing. . . . 5 ANAPC1 anaphase promoting complex subunit 1 chr2 112573216 NM_022662 c.C3328T p.R1110C exonic . . . 0.99 5 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927062 NM_001012419c.G190A p.D64N exonic . . . 1.00 5 ANKRD36 ankyrin repeat domain 36 chr2 97911750 NM_001164315c.A5426G p.E1809G exonic . . . 0.99 5 CDC27 cell division cycle 27 chr17 45219329 NM_001114091c.T1459G p.C487G exonic . . . 0.96 5 CLEC18A C-type lectin domain family 18, member A chr16 69995558 NM_001136214 c.C1054T p.R352C exonic . . . 0.97 5 CLEC18C C-type lectin domain family 18, member C chr1670218466 NM_173619 c.C1054T p.R352C exonic . . . 0.97 5 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 5 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 5 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 5 FAM21C family with sequence similarity 21, member C chr10 46284890 NM_001169107 c.A3371G p.K1124R exonic . . . 0.99 5 FAM75A1 SPATA31 subfamily A, member 1 chr9 39359711 NM_001040065 c.G1949A p.G650D exonic . . . 1.00 5 FAM75A1 SPATA31 subfamily A, member 1 chr9 39888962 NM_001040065 c.G1949A p.G650D exonic . . . 1.00 5 FRG1 FSHD region gene 1 chr4 190883080 NM_004477 c.C733A p.L245M exonic . . . 1.00 5 FRG1 FSHD region gene 1 chr4 190883081 NM_004477 c.T734G p.L245R exonic . . . 1.00 5 GRIK3 glutamate receptor, ionotropic, kainate 3 chr1 37319270 NM_000831 c.G1158T p.L386F exonic . . . 1.00 5 HNF1B HNF1 homeobox B chr17 36070591 NM_000458 c.A1126C p.T376P exonic . . . 0.92 5 KIR3DL2 killer cell immunoglobulin-like receptor, three domains,chr19 long 55377302 cytoplasmic NM_001242867tail, 2 c.T992C p.V331A exonic . . . 0.99 5 KRT18 keratin 18 chr1253343231 NM_000224 c.G274C p.A92P exonic . . . 0.99 5 MUC4 mucin 4, cell surface associated chr3 195506581 NM_018406 c.A11870G p.D3957G exonic . . . 0.96 5 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147594545 NM_001101663 c.G571T p.V191L exonic . . . 0.94 5 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 5 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 5 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148014182 NM_015383 c.C1130T p.T377I exonic . . . 1.00 5 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148007901 NM_015383 c.C2087T p.T696I exonic . . . 1.00 5 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25671451 NM_030979 c.A1115G p.E372G exonic . . . 0.98 5 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25670703 NM_030979 c.G367T p.G123C exonic . . . 1.00 5 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25670712 NM_030979 c.C376G p.L126V exonic . . . 0.93 5 POU2F2 POU class 2 homeobox 2 chr19 42596244 NM_001207025c.G1377T p.L459F exonic . . . 0.93 5 PRAMEF15 PRAME family member 15 chr1 13424057 NM_001010890c.C55G p.L19V exonic . . . 1.00 5 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 5 ZNF717 zinc finger protein 717 chr3 75787269 NM_001128223c.C1505T p.T502I exonic . . . 0.99 5 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>T splicing. . . . 5 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927076 NM_032250 c.203+1G>A splicing . . . . 5 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 5 DUX2 double homeobox 2 chr10135488290 splicing. . . . 5 DUX2 double homeobox 2 chr10135498198 splicing. . . . 5 DUX4L3 double homeobox 4 like 3 chr10 135491589 splicing. . . . 5 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146039794 splicing. . . . 5 NFKBIZ nuclear factor of kappa light polypeptide gene enhachr3ncer in 101576028 B-cells inhibitor, zeta splicing. . . . 5 RSPO1 R-spondin 1 chr1 38077350 splicing. . . . 5 RSPO2 R-spondin 2 chr1 38077351 splicing. . . . 5 ZNF492 zinc finger protein 492 chr19 22817278 splicing. . . . 6 ACVR2A activin A receptor, type IIA chr2 148676144 NM_001616 c.A945C p.K315N exonic . . . 0.92 6 ANKRD36 ankyrin repeat domain 36 chr2 97911750 NM_001164315c.A5426G p.E1809G exonic . . . 0.99 6 CTBP2 C-terminal binding protein 2 chr10 126682455 NM_022802 c.G2500A p.A834T exonic . . . 1.00 6 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 6 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 6 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 6 FAM120A family with sequence similarity 120A chr9 96326682 NM_014612 c.G3217C p.A1073P exonic . . . 1.00 6 FRG1 FSHD region gene 1 chr4 190883080 NM_004477 c.C733A p.L245M exonic . . . 1.00 6 FRG1 FSHD region gene 1 chr4 190883081 NM_004477 c.T734G p.L245R exonic . . . 1.00 6 HNF1B HNF1 homeobox B chr17 36070591 NM_000458 c.A1126C p.T376P exonic . . . 0.92 6 HSPG2 heparan sulfate proteoglycan 2 chr1 22199882 NM_005529 c.G3779C p.G1260A exonic . . . 1.00 6 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 6 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 6 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25671451 NM_030979 c.A1115G p.E372G exonic . . . 0.98 6 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25670703 NM_030979 c.G367T p.G123C exonic . . . 1.00 6 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25670712 NM_030979 c.C376G p.L126V exonic . . . 0.93 6 PSMB10 proteasome (prosome, macropain) subunit, beta type,chr1667970188 10 NM_002801 c.C172G p.R58G exonic . . . 1.00 6 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 6 ZNF717 zinc finger protein 717 chr3 75787269 NM_001128223c.C1505T p.T502I exonic . . . 0.99 6 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>C splicing. . . . 6 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 6 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 6 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 6 RSPO1 R-spondin 1 chr1 38077351 splicing. . . . 6 RSPO1 R-spondin 1 chr1 38077350 splicing. . . . 7 ATXN3 ataxin 3 chr1492537397 NM_001164782 c.A25C p.T9P exonic . . . 0.97 7 CLEC18A C-type lectin domain family 18, member A chr16 69995558 NM_001136214 c.C1054T p.R352C exonic . . . 0.97 7 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 7 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 7 PLIN4 perilipin 4 chr19 4512117 NM_001080400 c.G1813A p.G605S exonic . . . 0.97 7 ATXN3 ataxin 3 chr1492537397 NM_001164782 c.A25C p.T9P exonic . . . 0.97 7 FRG2 FSHD region gene 2 chr4 190947917 NM_001005217 c.C182G p.S61W exonic . . . 0.95 7 FRG2B FSHD region gene 2 family, member B chr10 135439804 NM_001080998 c.C182G p.S61W exonic . . . 0.95 7 GAB2 GRB2-associated binding protein 2 chr11 77937657 NM_012296 c.G947C p.R316P exonic . . . 1.00 7 HNF1B HNF1 homeobox B chr17 36070591 NM_000458 c.A1126C p.T376P exonic . . . 0.92 7 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 7 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 7 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25671451 NM_030979 c.A1115G p.E372G exonic . . . 0.98 7 PITRM1 pitrilysin metallopeptidase 1 chr10 3208556 NM_001242309c.A187C p.T63P exonic . . . 0.99 7 PLIN4 perilipin 4 chr19 4512117 NM_001080400 c.G1813A p.G605S exonic . . . 0.97 7 POTEH POTE ankyrin domain family, member H chr22 16282203 NM_001136213 c.A863G p.D288G exonic . . . 0.98 7 POTEM POTE ankyrin domain family, member M chr14 20014557 NM_001145442 c.A752G p.D251G exonic . . . 1.00 7 TMEM236 transmembrane protein 236 chr10 17838274 NM_001098844c.C827T p.S276F exonic . . . 1.00 7 TNXB tenascin XB chr6 32009879 NM_019105 c.G12373A p.E4125K exonic . . . 0.99 7 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 7 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 7 DUX2 double homeobox 2 chr10135498198 splicing. . . . 7 NFKBIZ nuclear factor of kappa light polypeptide gene enhachr3ncer in 101576028 B-cells inhibitor, zeta splicing. . . . 9 ACVR2A activin A receptor, type IIA chr2 148676144 NM_001616 c.A945C p.K315N exonic . . . 0.92 9 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927062 NM_001012419c.G190A p.D64N exonic . . . 1.00 9 ANKRD36 ankyrin repeat domain 36 chr2 97845607 NM_001164315c.G1672A p.D558N exonic . . . 1.00 9 ANKRD36 ankyrin repeat domain 36 chr2 97911750 NM_001164315c.A5426G p.E1809G exonic . . . 0.99 9 ARHGAP36 Rho GTPase activating protein 36 chrX 130217764 NM_144967 c.A376C p.T126P exonic . . . 0.99 9 CDC27 cell division cycle 27 chr17 45219329 NM_001114091c.T1459G p.C487G exonic . . . 0.96 9 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 9 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 9 CTBP2 C-terminal binding protein 2 chr10 126682452 NM_022802 c.C2503G p.L835V exonic . . . 0.94 9 CTBP2 C-terminal binding protein 2 chr10 126683225 NM_022802 c.G2213C p.R738P exonic . . . 0.98 9 CTBP2 C-terminal binding protein 2 chr10 126683235 NM_022802 c.G2203T p.V735F exonic . . . 1.00 9 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 9 FAM120A family with sequence similarity 120A chr9 96326682 NM_014612 c.G3217C p.A1073P exonic . . . 1.00 9 FRG2 FSHD region gene 2 chr4 190947917 NM_001005217 c.C182G p.S61W exonic . . . 0.95 9 GRIK3 glutamate receptor, ionotropic, kainate 3 chr1 37319270 NM_000831 c.G1158T p.L386F exonic . . . 1.00 9 KCNH6 potassium voltage-gated channel, subfamily H (eag-rchr1761611569elated), member 6 NM_030779 c.A998C p.H333P exonic . . . 0.99 9 KRT18 keratin 18 chr1253343231 NM_000224 c.G274C p.A92P exonic . . . 0.99 9 NBPF10 neuroblastoma breakpoint family, member 10 chr1 145302695 NM_001039703 c.C1133T p.T378I exonic . . . 0.99 9 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 9 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 9 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25671451 NM_030979 c.A1115G p.E372G exonic . . . 0.98 9 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25670703 NM_030979 c.G367T p.G123C exonic . . . 1.00 9 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25670712 NM_030979 c.C376G p.L126V exonic . . . 0.93 9 PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransfchr8erase 52733120domain containing NM_052937 1 c.G865A p.V289I exonic . . . 0.99 9 POU2F2 POU class 2 homeobox 2 chr19 42596244 NM_001207025c.G1377T p.L459F exonic . . . 0.93 9 PRAMEF15 PRAME family member 15 chr1 13424057 NM_001010890c.C55G p.L19V exonic . . . 1.00 9 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 9 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>C splicing. . . . 9 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927076 NM_032250 c.203+1G>A splicing . . . . 9 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 9 RGPD3 RANBP2-like and GRIP domain containing 3 chr2 107051232 NM_001144013c.1921-2A>G splicing . . . . 9 RSPO1 R-spondin 1 chr1 38077351 splicing. . . . 10 ACVR2A activin A receptor, type IIA chr2 148676144 NM_001616 c.A945C p.K315N exonic . . . 0.92 10 ANKRD36 ankyrin repeat domain 36 chr2 97845607 NM_001164315c.G1672A p.D558N exonic . . . 1.00 10 ANKRD36 ankyrin repeat domain 36 chr2 97911750 NM_001164315c.A5426G p.E1809G exonic . . . 0.99 10 CTBP2 C-terminal binding protein 2 chr10 126682485 NM_022802 c.G2470A p.A824T exonic . . . 1.00 10 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 10 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 10 CTBP2 C-terminal binding protein 2 chr10 126682452 NM_022802 c.C2503G p.L835V exonic . . . 0.94 10 CTBP2 C-terminal binding protein 2 chr10 126683225 NM_022802 c.G2213C p.R738P exonic . . . 0.98 10 CTBP2 C-terminal binding protein 2 chr10 126683235 NM_022802 c.G2203T p.V735F exonic . . . 1.00 10 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 10 FAM120A family with sequence similarity 120A chr9 96326682 NM_014612 c.G3217C p.A1073P exonic . . . 1.00 10 GRIK3 glutamate receptor, ionotropic, kainate 3 chr1 37319270 NM_000831 c.G1158T p.L386F exonic . . . 1.00 10 HNF1B HNF1 homeobox B chr17 36070591 NM_000458 c.A1126C p.T376P exonic . . . 0.92 10 KRT18 keratin 18 chr1253343231 NM_000224 c.G274C p.A92P exonic . . . 0.99 10 MUC4 mucin 4, cell surface associated chr3 195508108 NM_018406 c.C10343T p.S3448L exonic . . . 0.94 10 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 10 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 10 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148014182 NM_015383 c.C1130T p.T377I exonic . . . 1.00 10 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148007901 NM_015383 c.C2087T p.T696I exonic . . . 1.00 10 PIF1 PIF1 5'-to-3' DNA helicase chr15 65114504 NM_025049 c.G778C p.A260P exonic . . . 1.00 10 POU2F2 POU class 2 homeobox 2 chr19 42596244 NM_001207025c.G1377T p.L459F exonic . . . 0.93 10 RASSF1 Ras association (RalGDS/AF-6) domain family memberchr3 1 50375431 NM_007182 c.A262C p.T88P exonic . . . 0.99 10 RGPD4 RANBP2-like and GRIP domain containing 4 chr2 108473216 NM_182588 c.G1067A p.G356E exonic . . . 0.97 10 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 10 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>T splicing. . . . 10 CHMP6 charged multivesicular body protein 6 chr17 78971143 NM_024591 c.495+2T>C splicing . . . . 10 TDG thymine-DNA glycosylase chr12 104359839 NM_003211 c.23+1G>C splicing. . . . 10 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 10 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 10 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 10 CTBP3 C-terminal binding protein 3 chr10 126683037 splicing. . . . 11 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927062 NM_001012419c.G190A p.D64N exonic . . . 1.00 11 ANKRD36 ankyrin repeat domain 36 chr2 97911750 NM_001164315c.A5426G p.E1809G exonic . . . 0.99 11 CLEC18A C-type lectin domain family 18, member A chr16 69995498 NM_001136214 c.G994A p.G332R exonic . . . 0.97 11 CLEC18C C-type lectin domain family 18, member C chr1670218406 NM_173619 c.G994A p.G332R exonic . . . 1.00 11 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 11 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 11 CTBP2 C-terminal binding protein 2 chr10 126682452 NM_022802 c.C2503G p.L835V exonic . . . 0.94 11 CTBP2 C-terminal binding protein 2 chr10 126683225 NM_022802 c.G2213C p.R738P exonic . . . 0.98 11 CTBP2 C-terminal binding protein 2 chr10 126683235 NM_022802 c.G2203T p.V735F exonic . . . 1.00 11 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 11 FRG1 FSHD region gene 1 chr4 190883080 NM_004477 c.C733A p.L245M exonic . . . 1.00 11 FRG1 FSHD region gene 1 chr4 190883081 NM_004477 c.T734G p.L245R exonic . . . 1.00 11 GRIK3 glutamate receptor, ionotropic, kainate 3 chr1 37319270 NM_000831 c.G1158T p.L386F exonic . . . 1.00 11 GTF2I general transcription factor IIi chr7 74163427 NM_001518 c.G2113C p.G705R exonic . . . 1.00 11 HNF1B HNF1 homeobox B chr17 36070591 NM_000458 c.A1126C p.T376P exonic . . . 0.92 11 MUC4 mucin 4, cell surface associated chr3 195508108 NM_018406 c.C10343T p.S3448L exonic . . . 0.94 11 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 11 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 11 PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransfchr8erase 52733120domain containing NM_052937 1 c.G865A p.V289I exonic . . . 0.99 11 POU2F2 POU class 2 homeobox 2 chr19 42596244 NM_001207025c.G1377T p.L459F exonic . . . 0.93 11 PRAMEF15 PRAME family member 15 chr1 13424057 NM_001010890c.C55G p.L19V exonic . . . 1.00 11 PRSS3 protease, serine, 3 chr9 33799051 NM_001197098 c.G596C p.C199S exonic . . . 0.93 11 RASSF1 Ras association (RalGDS/AF-6) domain family memberchr3 1 50375431 NM_007182 c.A262C p.T88P exonic . . . 0.99 11 TBC1D3 TBC1 domain family, member 3 chr17 36338225 NM_001123391c.C1451A p.S484Y exonic . . . 0.99 11 USH2A Usher syndrome 2A (autosomal recessive, mild) chr1 215960153 NM_206933 c.T10246G p.C3416G exonic . . . 1.00 11 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 11 KRTAP10-7 keratin associated protein 10-7 chr21 46020669 NM_198689 c.135-2A>C splicing . . . . 11 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>C splicing. . . . 11 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927076 NM_032250 c.203+1G>A splicing . . . . 11 CHMP6 charged multivesicular body protein 6 chr17 78971143 NM_024591 c.495+2T>C splicing . . . . 11 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 11 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 11 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 11 DUX2 double homeobox 2 chr10 135488290 splicing. . . . 11 NFKBIZ nuclear factor of kappa light polypeptide gene enhachr3ncer in 101576028 B-cells inhibitor, zeta splicing. . . . 12 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927062 NM_001012419c.G190A p.D64N exonic . . . 1.00 12 ANKRD36 ankyrin repeat domain 36 chr2 97911750 NM_001164315c.A5426G p.E1809G exonic . . . 0.99 12 CCDC114 coiled-coil domain containing 114 chr19 48814878 NM_144577 c.C418T p.R140W exonic . . . 1.00 12 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 12 CTBP2 C-terminal binding protein 2 chr10 126683243 NM_022802 c.G2195A p.G732E exonic . . . 0.93 12 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 12 CTBP2 C-terminal binding protein 2 chr10 126682452 NM_022802 c.C2503G p.L835V exonic . . . 0.94 12 CTBP2 C-terminal binding protein 2 chr10 126683225 NM_022802 c.G2213C p.R738P exonic . . . 0.98 12 CTBP2 C-terminal binding protein 2 chr10 126683235 NM_022802 c.G2203T p.V735F exonic . . . 1.00 12 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 12 FAM75A1 SPATA31 subfamily A, member 1 chr9 39359711 NM_001040065 c.G1949A p.G650D exonic . . . 1.00 12 FAM75A1 SPATA31 subfamily A, member 1 chr9 39888962 NM_001040065 c.G1949A p.G650D exonic . . . 1.00 12 FRG2 FSHD region gene 2 chr4 190947917 NM_001005217 c.C182G p.S61W exonic . . . 0.95 12 GRIK3 glutamate receptor, ionotropic, kainate 3 chr1 37319270 NM_000831 c.G1158T p.L386F exonic . . . 1.00 12 LETMD1 LETM1 domain containing 1 chr12 51449662 NM_001243689c.C557G p.P186R exonic . . . 0.98 12 MTIF2 mitochondrial translational initiation factor 2 chr2 55464496 NM_002453 c.A1939G p.R647G exonic . . . 0.97 12 MUC4 mucin 4, cell surface associated chr3 195506494 NM_018406 c.C11957A p.P3986H exonic . . . 0.99 12 MYOT myotilin chr5 137217715 NM_001135940 c.A185T p.K62I exonic . . . 1.00 12 NBPF10 neuroblastoma breakpoint family, member 10 chr1 145302695 NM_001039703 c.C1133T p.T378I exonic . . . 0.99 12 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 12 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 12 NRG1 neuregulin 1 chr8 32453411 NM_001160002 c.C166T p.R56W exonic . . . 1.00 12 PIF1 PIF1 5'-to-3' DNA helicase chr15 65114504 NM_025049 c.G778C p.A260P exonic . . . 1.00 12 POU2F2 POU class 2 homeobox 2 chr19 42596244 NM_001207025c.G1377T p.L459F exonic . . . 0.93 12 PRAMEF15 PRAME family member 15 chr1 13424057 NM_001010890c.C55G p.L19V exonic . . . 1.00 12 PRAMEF4 PRAME family member 4 chr1 12939733 NM_001009611c.C1069G p.L357V exonic . . . 1.00 12 RFX6 regulatory factor X, 6 chr6 117252539 NM_173560 c.T2657C p.M886T exonic . . . 0.94 12 SPDYE2 speedy/RINGO cell cycle regulator family memberchr7 E2 102196464 NM_001031618 c.A497T p.E166V exonic . . . 0.99 12 TBC1D3 TBC1 domain family, member 3 chr17 36338225 NM_001123391c.C1451A p.S484Y exonic . . . 0.99 12 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 12 RGPD4 RANBP2-like and GRIP domain containing 4 chr2 108477648 NM_182588 c.1921-2A>G splicing . . . . 12 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>T splicing. . . . 12 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927076 NM_032250 c.203+1G>A splicing . . . . 12 TYRO3 TYRO3 protein tyrosine kinase chr15 41865198 NM_006293 c.1876-2A>T splicing . . . . 12 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 12 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 12 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 12 CTBP4 C-terminal binding protein 4 chr10 126683037 splicing. . . . 12 NFKBIZ nuclear factor of kappa light polypeptide gene enhachr3ncer in 101576028 B-cells inhibitor, zeta splicing. . . . 13 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927062 NM_001012419c.G190A p.D64N exonic . . . 1.00 13 ANKRD36 ankyrin repeat domain 36 chr2 97845607 NM_001164315c.G1672A p.D558N exonic . . . 1.00 13 ANKRD36 ankyrin repeat domain 36 chr2 97911750 NM_001164315c.A5426G p.E1809G exonic . . . 0.99 13 CCDC114 coiled-coil domain containing 114 chr19 48814878 NM_144577 c.C418T p.R140W exonic . . . 1.00 13 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 13 CTBP2 C-terminal binding protein 2 chr10 126683243 NM_022802 c.G2195A p.G732E exonic . . . 0.93 13 CTBP2 C-terminal binding protein 2 chr10 126683244 NM_022802 c.G2194C p.G732R exonic . . . 1.00 13 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 13 CTBP2 C-terminal binding protein 2 chr10 126682452 NM_022802 c.C2503G p.L835V exonic . . . 0.94 13 CTBP2 C-terminal binding protein 2 chr10 126683225 NM_022802 c.G2213C p.R738P exonic . . . 0.98 13 CTBP2 C-terminal binding protein 2 chr10 126683235 NM_022802 c.G2203T p.V735F exonic . . . 1.00 13 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 13 FAM194B family with sequence similarity 194, member B chr1346170705 NM_182542 c.C436A p.L146M exonic . . . 0.98 13 HNF1B HNF1 homeobox B chr17 36070591 NM_000458 c.A1126C p.T376P exonic . . . 0.92 13 KRT18 keratin 18 chr1253343231 NM_000224 c.G274C p.A92P exonic . . . 0.99 13 LETMD1 LETM1 domain containing 1 chr12 51449662 NM_001243689c.C557G p.P186R exonic . . . 0.98 13 MTIF2 mitochondrial translational initiation factor 2 chr2 55464496 NM_002453 c.A1939G p.R647G exonic . . . 0.97 13 MYOT myotilin chr5 137217715 NM_001135940 c.A185T p.K62I exonic . . . 1.00 13 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 13 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 13 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148014182 NM_015383 c.C1130T p.T377I exonic . . . 1.00 13 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148007901 NM_015383 c.C2087T p.T696I exonic . . . 1.00 13 NRG1 neuregulin 1 chr8 32453411 NM_001160002 c.C166T p.R56W exonic . . . 1.00 13 POU2F2 POU class 2 homeobox 2 chr19 42596244 NM_001207025c.G1377T p.L459F exonic . . . 0.93 13 PRAMEF15 PRAME family member 15 chr1 13424057 NM_001010890c.C55G p.L19V exonic . . . 1.00 13 PRAMEF4 PRAME family member 4 chr1 12939733 NM_001009611c.C1069G p.L357V exonic . . . 1.00 13 RFX6 regulatory factor X, 6 chr6 117252539 NM_173560 c.T2657C p.M886T exonic . . . 0.94 13 SLC25A5 solute carrier family 25 (mitochondrial carrier; adeninechrX nucleotide 118603873 translocator), NM_001152 member 5 c.G361T p.G121C exonic . . . 0.95 13 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 13 RGPD4 RANBP2-like and GRIP domain containing 4 chr2 108477648 NM_182588 c.1921-2A>G splicing . . . . 13 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>T splicing. . . . 13 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927076 NM_032250 c.203+1G>A splicing . . . . 13 TYRO3 TYRO3 protein tyrosine kinase chr15 41865198 NM_006293 c.1876-2A>G splicing . . . . 13 TDG thymine-DNA glycosylase chr12 104359839 NM_003211 c.23+1G>C splicing. . . . 13 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 13 RGPD3 RANBP2-like and GRIP domain containing 3 chr2 107051232 NM_001144013c.1921-2A>G splicing . . . . 13 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 13 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 13 CDC27 cell division cycle 27 chr17 45216103 splicing. . . . 13 NFKBIZ nuclear factor of kappa light polypeptide gene enhachr3ncer in 101576028 B-cells inhibitor, zeta splicing. . . . 14 ACVR2A activin A receptor, type IIA chr2 148676144 NM_001616 c.A945C p.K315N exonic . . . 0.92 14 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927062 NM_001012419c.G190A p.D64N exonic . . . 1.00 14 ANKRD36 ankyrin repeat domain 36 chr2 97911750 NM_001164315c.A5426G p.E1809G exonic . . . 0.99 14 CDC27 cell division cycle 27 chr17 45219329 NM_001114091c.T1459G p.C487G exonic . . . 0.96 14 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 14 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 14 CTBP2 C-terminal binding protein 2 chr10 126682452 NM_022802 c.C2503G p.L835V exonic . . . 0.94 14 CTBP2 C-terminal binding protein 2 chr10 126683225 NM_022802 c.G2213C p.R738P exonic . . . 0.98 14 CTBP2 C-terminal binding protein 2 chr10 126683235 NM_022802 c.G2203T p.V735F exonic . . . 1.00 14 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 14 FAM120A family with sequence similarity 120A chr9 96326682 NM_014612 c.G3217C p.A1073P exonic . . . 1.00 14 FRG1 FSHD region gene 1 chr4 190883080 NM_004477 c.C733A p.L245M exonic . . . 1.00 14 FRG1 FSHD region gene 1 chr4 190883081 NM_004477 c.T734G p.L245R exonic . . . 1.00 14 FRG2 FSHD region gene 2 chr4 190947917 NM_001005217 c.C182G p.S61W exonic . . . 0.95 14 HNF1B HNF1 homeobox B chr17 36070591 NM_000458 c.A1126C p.T376P exonic . . . 0.92 14 MUC4 mucin 4, cell surface associated chr3 195508108 NM_018406 c.C10343T p.S3448L exonic . . . 0.94 14 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 14 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 14 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148007901 NM_015383 c.C2087T p.T696I exonic . . . 1.00 14 PIF1 PIF1 5'-to-3' DNA helicase chr15 65114504 NM_025049 c.G778C p.A260P exonic . . . 1.00 14 POU2F2 POU class 2 homeobox 2 chr19 42596244 NM_001207025c.G1377T p.L459F exonic . . . 0.93 14 PRAMEF15 PRAME family member 15 chr1 13424057 NM_001010890c.C55G p.L19V exonic . . . 1.00 14 RASSF1 Ras association (RalGDS/AF-6) domain family memberchr3 1 50375431 NM_007182 c.A262C p.T88P exonic . . . 0.99 14 SLC25A5 solute carrier family 25 (mitochondrial carrier; adeninechrX nucleotide 118603873 translocator), NM_001152 member 5 c.G361T p.G121C exonic . . . 0.95 14 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 14 ZNF717 zinc finger protein 717 chr3 75787269 NM_001128223c.C1505T p.T502I exonic . . . 0.99 14 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>C splicing. . . . 14 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927076 NM_032250 c.203+1G>A splicing . . . . 14 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 14 CDC27 cell division cycle 27 chr17 45216103 splicing. . . . 15 ANKRD20A2 ankyrin repeat domain 20 family, member A2 chr9 43091410 NM_001012419 c.A2414G p.E805G exonic . . . 0.93 15 CLEC18A C-type lectin domain family 18, member A chr16 69995498 NM_001136214 c.G994A p.G332R exonic . . . 0.97 15 CLEC18C C-type lectin domain family 18, member C chr1670218406 NM_173619 c.G994A p.G332R exonic . . . 1.00 15 DDT D-dopachrome tautomerase chr22 24315961 NM_001084392c.G280A p.D94N exonic . . . 0.94 15 DDTL D-dopachrome tautomerase-like chr22 24309745 NM_001084393c.G280A p.D94N exonic . . . 0.91 15 EYS eyes shut homolog (Drosophila) chr6 65300994 NM_001142800c.A4766T p.N1589I exonic . . . 0.99 15 FAM21C family with sequence similarity 21, member C chr10 46284890 NM_001169107 c.A3371G p.K1124R exonic . . . 0.99 15 FRG2 FSHD region gene 2 chr4 190947917 NM_001005217 c.C182G p.S61W exonic . . . 0.95 15 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 15 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 15 PRSS3 protease, serine, 3 chr9 33799051 NM_001197098 c.G596C p.C199S exonic . . . 0.93 15 ZNF717 zinc finger protein 717 chr3 75787269 NM_001128223c.C1505T p.T502I exonic . . . 0.99 15 KRTAP10-7 keratin associated protein 10-7 chr21 46020669 NM_198689 c.135-2A>C splicing . . . . 15 TDG thymine-DNA glycosylase chr12 104359839 NM_003211 c.23+1G>C splicing. . . . 15 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 15 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 15 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 15 RSPO1 R-spondin 1 chr1 38077351 splicing. . . . 15 RSPO1 R-spondin 1 chr1 38077350 splicing. . . . 15 ZNF492 zinc finger protein 492 chr19 22817278 splicing. . . . 16 FRG2 FSHD region gene 2 chr4 190947917 NM_001005217 c.C182G p.S61W exonic . . . 0.95 16 FRG2B FSHD region gene 2 family, member B chr10 135439804 NM_001080998 c.C182G p.S61W exonic . . . 0.95 16 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 16 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 16 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148014182 NM_015383 c.C1130T p.T377I exonic . . . 1.00 16 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148007901 NM_015383 c.C2087T p.T696I exonic . . . 1.00 16 PLIN4 perilipin 4 chr19 4512117 NM_001080400 c.G1813A p.G605S exonic . . . 0.97 16 ZNF717 zinc finger protein 717 chr3 75787269 NM_001128223c.C1505T p.T502I exonic . . . 0.99 16 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 16 DUX4L3 double homeobox 4 like 3 chr10 135491589 splicing. . . . 17 ANKRD20A2 ankyrin repeat domain 20 family, member A2 chr9 43091410 NM_001012419 c.A2414G p.E805G exonic . . . 0.93 17 ATXN3 ataxin 3 chr1492537397 NM_001164782 c.A25C p.T9P exonic . . . 0.97 17 CLEC18A C-type lectin domain family 18, member A chr16 69995558 NM_001136214 c.C1054T p.R352C exonic . . . 0.97 17 CLEC18C C-type lectin domain family 18, member C chr1670218466 NM_173619 c.C1054T p.R352C exonic . . . 0.97 17 FRG2 FSHD region gene 2 chr4 190947917 NM_001005217 c.C182G p.S61W exonic . . . 0.95 17 FRG2B FSHD region gene 2 family, member B chr10 135439804 NM_001080998 c.C182G p.S61W exonic . . . 0.95 17 MUC4 mucin 4, cell surface associated chr3 195506581 NM_018406 c.A11870G p.D3957G exonic . . . 0.96 17 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 17 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 17 PARP4 poly (ADP-ribose) polymerase family, member 4 chr1325044054 NM_006437 c.A2024G p.N675S exonic . . . 0.99 17 PLIN4 perilipin 4 chr19 4512117 NM_001080400 c.G1813A p.G605S exonic . . . 0.97 17 SLC25A5 solute carrier family 25 (mitochondrial carrier; adeninechrX nucleotide 118603873 translocator), NM_001152 member 5 c.G361T p.G121C exonic . . . 0.95 17 ZNF717 zinc finger protein 717 chr3 75787269 NM_001128223c.C1505T p.T502I exonic . . . 0.99 17 NFKBIZ nuclear factor of kappa light polypeptide gene enhachr3ncer in 101576028 B-cells inhibitor, zeta splicing. . . . 18 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67934747 NM_001012419 c.G517A p.A173T exonic . . . 0.98 18 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927062 NM_001012419c.G190A p.D64N exonic . . . 1.00 18 ANKRD36 ankyrin repeat domain 36 chr2 97845607 NM_001164315c.G1672A p.D558N exonic . . . 1.00 18 CDC27 cell division cycle 27 chr17 45219329 NM_001114091c.T1459G p.C487G exonic . . . 0.96 18 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 18 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 18 CTBP2 C-terminal binding protein 2 chr10 126683235 NM_022802 c.G2203T p.V735F exonic . . . 1.00 18 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 18 FAM120A family with sequence similarity 120A chr9 96326682 NM_014612 c.G3217C p.A1073P exonic . . . 1.00 18 FRG2 FSHD region gene 2 chr4 190947917 NM_001005217 c.C182G p.S61W exonic . . . 0.95 18 GRIK3 glutamate receptor, ionotropic, kainate 3 chr1 37319270 NM_000831 c.G1158T p.L386F exonic . . . 1.00 18 HNF1B HNF1 homeobox B chr17 36070591 NM_000458 c.A1126C p.T376P exonic . . . 0.92 18 MUC4 mucin 4, cell surface associated chr3 195506581 NM_018406 c.A11870G p.D3957G exonic . . . 0.96 18 NBPF10 neuroblastoma breakpoint family, member 10 chr1 145302695 NM_001039703 c.C1133T p.T378I exonic . . . 0.99 18 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 18 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 18 POU2F2 POU class 2 homeobox 2 chr19 42596244 NM_001207025c.G1377T p.L459F exonic . . . 0.93 18 PRAMEF13 PRAME family member 13 chr1 13450097 NM_001024661c.A329G p.E110G exonic . . . 0.99 18 PRAMEF15 PRAME family member 15 chr1 13424057 NM_001010890c.C55G p.L19V exonic . . . 1.00 18 PRSS3 protease, serine, 3 chr9 33799051 NM_001197098 c.G596C p.C199S exonic . . . 0.93 18 RASSF1 Ras association (RalGDS/AF-6) domain family memberchr3 1 50375431 NM_007182 c.A262C p.T88P exonic . . . 0.99 18 RGPD4 RANBP2-like and GRIP domain containing 4 chr2 108473216 NM_182588 c.G1067A p.G356E exonic . . . 0.97 18 SPDYE2 speedy/RINGO cell cycle regulator family memberchr7 E2 102196464 NM_001031618 c.A497T p.E166V exonic . . . 0.99 18 SPDYE2 speedy/RINGO cell cycle regulator family memberchr7 E2 102300219 NM_001031618 c.C838T p.R280C exonic . . . 0.94 18 TMEM236 transmembrane protein 236 chr10 17838274 NM_001098844c.C827T p.S276F exonic . . . 1.00 18 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 18 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927076 NM_032250 c.203+1G>A splicing . . . . 18 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 18 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 18 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 18 CDC27 cell division cycle 27 chr17 45216103 splicing. . . . 18 NFKBIZ nuclear factor of kappa light polypeptide gene enhachr3ncer in 101576028 B-cells inhibitor, zeta splicing. . . . 19 ACVR2A activin A receptor, type IIA chr2 148676144 NM_001616 c.A945C p.K315N exonic . . . 0.92 19 ANAPC1 anaphase promoting complex subunit 1 chr2 112573216 NM_022662 c.C3328T p.R1110C exonic . . . 0.99 19 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927062 NM_001012419c.G190A p.D64N exonic . . . 1.00 19 ANKRD36 ankyrin repeat domain 36 chr2 97845607 NM_001164315c.G1672A p.D558N exonic . . . 1.00 19 ANKRD36 ankyrin repeat domain 36 chr2 97911750 NM_001164315c.A5426G p.E1809G exonic . . . 0.99 19 CTBP2 C-terminal binding protein 2 chr10 126682485 NM_022802 c.G2470A p.A824T exonic . . . 1.00 19 CTBP2 C-terminal binding protein 2 chr10 126682455 NM_022802 c.G2500A p.A834T exonic . . . 1.00 19 CTBP2 C-terminal binding protein 2 chr10 126682454 NM_022802 c.C2501T p.A834V exonic . . . 1.00 19 CTBP2 C-terminal binding protein 2 chr10 126683219 NM_022802 c.A2219C p.K740T exonic . . . 0.99 19 CTBP2 C-terminal binding protein 2 chr10 126683225 NM_022802 c.G2213C p.R738P exonic . . . 0.98 19 CTBP2 C-terminal binding protein 2 chr10 126683235 NM_022802 c.G2203T p.V735F exonic . . . 1.00 19 DDT D-dopachrome tautomerase chr22 24315961 NM_001084392c.G280A p.D94N exonic . . . 0.94 19 DDTL D-dopachrome tautomerase-like chr22 24309745 NM_001084393c.G280A p.D94N exonic . . . 0.91 19 DMXL2 Dmx-like 2 chr15 51766637 NM_001174117 c.G5206T p.A1736S exonic . . . 0.99 19 FAM120A family with sequence similarity 120A chr9 96326682 NM_014612 c.G3217C p.A1073P exonic . . . 1.00 19 FAM194B family with sequence similarity 194, member B chr1346170705 NM_182542 c.C436A p.L146M exonic . . . 0.98 19 FAM75A1 SPATA31 subfamily A, member 1 chr9 39359711 NM_001040065 c.G1949A p.G650D exonic . . . 1.00 19 FAM75A1 SPATA31 subfamily A, member 1 chr9 39888962 NM_001040065 c.G1949A p.G650D exonic . . . 1.00 19 FRG2 FSHD region gene 2 chr4 190947917 NM_001005217 c.C182G p.S61W exonic . . . 0.95 19 HNF1B HNF1 homeobox B chr17 36070591 NM_000458 c.A1126C p.T376P exonic . . . 0.92 19 KRT18 keratin 18 chr1253343231 NM_000224 c.G274C p.A92P exonic . . . 0.99 19 MUC4 mucin 4, cell surface associated chr3 195508108 NM_018406 c.C10343T p.S3448L exonic . . . 0.94 19 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 19 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 19 NBPF14 neuroblastoma breakpoint family, member 14 chr1 148014182 NM_015383 c.C1130T p.T377I exonic . . . 1.00 19 POU2F2 POU class 2 homeobox 2 chr19 42596244 NM_001207025c.G1377T p.L459F exonic . . . 0.93 19 PRAMEF15 PRAME family member 15 chr1 13424057 NM_001010890c.C55G p.L19V exonic . . . 1.00 19 SLC25A5 solute carrier family 25 (mitochondrial carrier; adeninechrX nucleotide 118603873 translocator), NM_001152 member 5 c.G361T p.G121C exonic . . . 0.95 19 TBC1D3 TBC1 domain family, member 3 chr17 36338225 NM_001123391c.C1451A p.S484Y exonic . . . 0.99 19 VWF von Willebrand factor chr12 6132010 NM_000552 c.G3434A p.R1145H exonic . . . 1.00 19 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>T splicing. . . . 19 ANKRD20A1 ankyrin repeat domain 20 family, member A1 chr9 67927076 NM_032250 c.203+1G>A splicing . . . . 19 TDG thymine-DNA glycosylase chr12 104359839 NM_003211 c.23+1G>C splicing. . . . 19 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 19 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 19 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 19 CDC27 cell division cycle 27 chr17 45216103 splicing. . . . 19 NFKBIZ nuclear factor of kappa light polypeptide gene enhachr3ncer in 101576028 B-cells inhibitor, zeta splicing. . . . 19 RSPO1 R-spondin 1 chr1 38077351 splicing. . . . 19 RSPO1 R-spondin 1 chr1 38077350 splicing. . . . 20 NBPF16 neuroblastoma breakpoint family, member 16 chr1 148756664 NM_001102663 c.G1993T p.G665X exonic . . . . 20 ANKRD20A2 ankyrin repeat domain 20 family, member A2 chr9 43091410 NM_001012419 c.A2414G p.E805G exonic . . . 0.93 20 ATXN3 ataxin 3 chr1492537397 NM_001164782 c.A25C p.T9P exonic . . . 0.97 20 CLEC18A C-type lectin domain family 18, member A chr16 69995498 NM_001136214 c.G994A p.G332R exonic . . . 0.97 20 CLEC18C C-type lectin domain family 18, member C chr1670218406 NM_173619 c.G994A p.G332R exonic . . . 1.00 20 EYS eyes shut homolog (Drosophila) chr6 65300994 NM_001142800c.A4766T p.N1589I exonic . . . 0.99 20 HNF1B HNF1 homeobox B chr17 36070591 NM_000458 c.A1126C p.T376P exonic . . . 0.92 20 LOC100132247 putative NPIP-like protein LOC100132247-like chr16 22545476 NM_001135865 c.G1172A p.R391H exonic . . . 0.99 20 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146039133 NM_001101663 c.A1883G p.E628G exonic . . . 0.91 20 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 20 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 20 PARP4 poly (ADP-ribose) polymerase family, member 4 chr1325044054 NM_006437 c.A2024G p.N675S exonic . . . 0.99 20 PITRM1 pitrilysin metallopeptidase 1 chr10 3208556 NM_001242309c.A187C p.T63P exonic . . . 0.99 20 PLIN4 perilipin 4 chr19 4512117 NM_001080400 c.G1813A p.G605S exonic . . . 0.97 20 SLC25A5 solute carrier family 25 (mitochondrial carrier; adeninechrX nucleotide 118603873 translocator), NM_001152 member 5 c.G361T p.G121C exonic . . . 0.95 20 ZNF717 zinc finger protein 717 chr3 75787269 NM_001128223c.C1505T p.T502I exonic . . . 0.99 20 TDG thymine-DNA glycosylase chr12 104359839 NM_003211 c.23+1G>C splicing. . . . 20 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 20 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 20 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 20 NFKBIZ nuclear factor of kappa light polypeptide gene enhachr3ncer in 101576028 B-cells inhibitor, zeta splicing. . . . 20 RSPO1 R-spondin 1 chr1 38077351 splicing. . . . 20 RSPO1 R-spondin 1 chr1 38077350 splicing. . . . 20 ZNF492 zinc finger protein 492 chr19 22817278 splicing. . . . 21 GAB2 GRB2-associated binding protein 2 chr11 77937657 NM_012296 c.G947C p.R316P exonic . . . 1.00 21 LOC100132247 putative NPIP-like protein LOC100132247-like chr16 22545476 NM_001135865 c.G1172A p.R391H exonic . . . 0.99 21 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 21 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 21 PLIN4 perilipin 4 chr19 4512117 NM_001080400 c.G1813A p.G605S exonic . . . 0.97 21 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 21 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 21 RSPO1 R-spondin 1 chr1 38077350 splicing. . . . 22 GAB2 GRB2-associated binding protein 2 chr11 77937657 NM_012296 c.G947C p.R316P exonic . . . 1.00 22 HLA-DRB1 major histocompatibility complex, class II, DR betachr6 1 32552039 NM_002124 c.G217C p.V73L exonic . . . 0.98 22 NBPF11 neuroblastoma breakpoint family, member 11 chr1 146037495 NM_001101663 c.T2206C p.Y736H exonic . . . 0.96 22 NBPF11 neuroblastoma breakpoint family, member 11 chr1 147579272 NM_001101663 c.T2206C p.Y736H exonic . . . 0.97 22 PABPC3 poly(A) binding protein, cytoplasmic 3 chr13 25670703 NM_030979 c.G367T p.G123C exonic . . . 1.00 22 PLIN4 perilipin 4 chr19 4512117 NM_001080400 c.G1813A p.G605S exonic . . . 0.97 22 ZNF595 zinc finger protein 595 chr4 86033 NM_182524 c.637+1A>C splicing. . . . 22 AQP7 aquaporin 7 chr9 33386400 NM_001170 c.406+2T>C splicing . . . . 22 FAM86B2 family with sequence similarity 86, member B2 chr8 12289590 NM_001137610c.240+1G>A splicing . . . . 22 FAM86B1 family with sequence similarity 86, member B1 chr8 12047316 NM_001083537c.240+1G>A splicing . . . . 22 DUX2 double homeobox 2 chr10 135488290 splicing. . . . 22 NFKBIZ nuclear factor of kappa light polypeptide gene enhachr3ncer in 101576028 B-cells inhibitor, zeta splicing. . . . PolyPhen2 Prediction D D D D D D D D D D D D D D D D D ...... D D D D D D D D D D D D D D D D D D D D D D D D D D D D ...... D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D ...... D D D D D D D D D D D D D D D D D D D D D D D . . . . . D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D ...... D D D D D D D D D D D D D D D D D D D ...... D D D D D D D D D D D D D D D D D D D . . . . D D D D D D D D D D D D D D D D D D D D D D D D D D D . . . . . D D D D D D D D D D D D D D D D D D D D D D D D ...... D D D D D D D D D D D D D D D D D D D D D D D D D D ...... D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D ...... D D D D D D D D D D D D D D D D D D D D D D D D D D D D D ...... D D D D D D D D D D D D D D D D D D D D D D D D D D . . . . D D D D D D D D D D D D ...... D D D D D D D D . . D D D D D D D D D D D D D . D D D D D D D D D D D D D D D D D D D D D D D D D D ...... D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D ...... D D D D D D D D D D D D D D D ...... D D D D D . . . D D D D D D ......