A systematic, large-scale resequencing screen of X ... · A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation Patrick S Tarpey, Raffaella

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick S Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley, Sarah Edkins, Claire Hardy,

Sarah O’Meara, Calli Latimer, Ed Dicks, Andrew Menzies, Phil Stephens, Matt Blow, Chris

Greenman, Yali Xue, Chris Tyler-Smith, Deborah Thompson, Kristian Gray, Jenny Andrews, Syd

Barthorpe, Gemma Buck, Jennifer Cole, Rebecca Dunmore, David Jones, Mark Maddison, Tatiana

Mironenko, Rachel Turner, Kelly Turrell, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, Jon

Teague, Adam Butler, Andrew Jenkinson, Mingming Jia, David Richardson, Rebecca Shepherd,

Richard Wooster, M Isabel Tejada, Francisco Martinez, Gemma Carvill, Rene Goliath, Arjan PM de

Brouwer, Hans van Bokhoven, Hilde Van Esch, Jamel Chelly, Martine Raynaud, Hans-Hilger Ropers,

Fatima E Abidi, Anand K Srivastava, James Cox, Ying Luo, Uma Mallya, Jenny Moon, Josef Parnau,

Shehla Mohammed, John L Tolmie, Cheryl Shoubridge, Mark Corbett, Alison Gardner, Eric Haan,

Sinitdhorn Rujirabanjerd, Marie Shaw, Lucianne Vandeleur, Tod Fullston, Douglas F Easton, Jackie

Boyle, Michael Partington, Anna Hackett, Michael Field, Cindy Skinner, Roger E Stevenson, Martin

Bobrow, Gillian Turner, Charles E Schwartz, Jozef Gecz,, F Lucy Raymond, P Andrew Futreal &

Michael R Stratton.

Nature Genetics: doi:10.1038/ng.367

Supplementary Discussion

Read through variants

Three genes from the X specific part of the X chromosome (H2BFWT, NSDHL, and CXorf12)

carried variants that cause a translational frameshift close to the wild type termination codon

which alters the carboxy-terminal amino acid sequence and extends it into previously

untranslated 3’ DNA (termed “read-through” variants). All three read-through variants segregated

with MR in the four families in which they were detected (Supplementary Figure 1) and were not

found in controls. However, the read-through variant in CXorf12 was found in an individual who

also carries a MECP2 duplication and is therefore unlikely to be MR-causing

In frame insertions / deletions

Twelve non-recurrent and 14 recurrent in-frame insertions / deletions were observed (Table 2,

Supplementary Tables 3 and 4). Fourteen were three base pair, four were six base pair and eight

were larger in-frame variants. Thirteen of the 26 in-frame alterations were at perfect repetitive

sequences, eight of which were constituted of more than two repeat units. Several more were at

imperfect repeats. None of these polymorphic repeats had more than two alleles and no obvious

differences were observed in the pattern of variation between recurrent and non-recurrent

alterations. One gene, PASD1, carried two different non-recurrent in-frame alterations and one,

AMOT, had two different recurrent in-frame alterations. Among known XLMR genes, non-

recurrent in-frame alterations were found in ATRX and PQBP1 and a recurrent in-frame

alteration in SHROOM4. Evaluation of 288 male controls revealed none of the non-recurrent and

13 of the recurrent in-frame variants. The role in MR of the non-recurrent in-frame variants will

require further detailed study.


Clinical characteristics of XLMR families.

The families examined in this study ranged from large extended pedigrees with many cases of

MR to small nuclear clusters. Twenty two percent of the XLMR families studied were sibling

pairs, seven percent were other two case families, 25% were three case families and 46% had

four or more cases of MR (Table 1). The family set was also heterogeneous with respect to

disease phenotype, including a broad range of MR severity and diverse accessory phenotypic

features. Twenty four percent of screened cases had mild (IQ 50-69), 46% had moderate (IQ 35-

49) and 26% had severe (IQ 20-34) mental retardation. Twelve percent had microcephaly, 11%

had macrocephaly, 32% had dysmorphic features, 12% had absent and 85% had delayed

language or speech, 22% had epilepsy and 23% had additional neurological features (excluding

epilepsy). Further information pertaining to the clinical features of individual families may be

obtained by directly contacting the clinical investigators. Of the XLMR cases screened, the likely

genetic basis of 53 (25%) has now been established by detection of truncating, missense, in-

frame or copy number variants found in this screen or by others analysing the same cases in

parallel (Supplementary Table 7). Therefore the abnormal genes underlying the large majority of

the XLMR families studied remain to be identified. We compared the clinical features of cases in

which MR-causing variants have been identified to those in which the disease-causing variant

remains unknown. In cases with MR-causing mutations compared to cases without MR-causing

mutations, MR was overall more severe (p<.01), microcephaly or macrocephaly was found in

30% v 22% (p=.084), epilepsy in 34% v 19% (p=.017), dysmorphic features in 38% v 30%

(p=.070) and accessory neurological features in 28% v 21% (p=.088). This suggests that a larger

proportion of mild MR cases are not due to the classes of variant readily detectable by our

screen, are not due to X chromosome genes or do not have an underlying genetic basis. Of the

family structures studied, sibling pairs are a priori the most likely to be attributable to autosomal

recessive genes or to non-genetic causes. There was, however, no apparent difference in the

proportion of sibling pairs that were found to have MR-causing variants (21%) compared to all

other types of familial cluster (23%).


Legends for Supplementary Tables

Supplementary Table 1

The full set of the X chromosome genes considered in this screen.


Variants indentified in the follow up screen of cases and controls and their frequencies.


The sequence variants indentified in the screen and their frequencies.


In frame variants found in the screen.


Ranking of amino acid conservation scores of missense variants.


Ranking by NNsplice score of missense and synonymous variants found in the screen.


Likely MR‐causing variants identified in the 208 XLMR families. These variants were identified during

this re‐sequencing investigation , or via parallel investigations, including array‐CGH , of the same

samples .


dN/dS scores for the genes on the X chromosome.


Legends for Supplementary Figures

Supplementary Figure 1

The pedigrees of all the XLMR families with truncating or read through variants. Individuals carrying

the truncating or read through variant in each family are marked with an asterix.

Supplementary Figure 2

Cumulative conservation scores for the non‐recurrent missense variants found in the screen

compared to recurrent missense variants.


Supplementary Table 1: The full set of the X chromosome genes considered in this screen

Re-sequenced Gene Name Vega ID Ensembl ID Refseq ID CCDS ID Region of X Chromosome Gene Class

Yes ABCB7 OTTHUMG00000021862 ENSG00000131269 NM_004299 CCDS14428 X Specific Disease gene Yes ABCD1 OTTHUMG00000024215 ENSG00000101986 NM_000033 CCDS14728 X Specific XLMR gene No AC092402 OTTHUMG00000024230 X Specific Non disease gene Yes ACE2 OTTHUMG00000021177 ENSG00000130234 NM_021804 CCDS14169 X Specific Non disease gene Yes ACOT9 OTTHUMG00000021257 ENSG00000123130 CCDS35216 X Specific Non disease gene No ACRC OTTHUMG00000033327 ENSG00000147174 NM_052957 CCDS35326 X Specific Non disease gene Yes ACSL4 OTTHUMG00000022190 ENSG00000068366 NM_004458 CCDS14549 X Specific XLMR gene Yes ACTRT1 OTTHUMG00000022359 ENSG00000123165 NM_138289 CCDS14611 X Specific Non disease gene No AF003627 OTTHUMG00000024168 CCDS35430 X Specific Non disease gene No AF196779 OTTHUMG00000021511 X Specific Non disease gene Yes AFF2 OTTHUMG00000022613 ENSG00000155966 NM_002025 CCDS14684 X Specific XLMR gene Yes AGTR2 OTTHUMG00000022243 ENSG00000180772 NM_000686 CCDS14569 X Specific XLMR gene Yes AIFM1 OTTHUMG00000022392 ENSG00000156709 NM_004208 CCDS14618 X Specific Non disease gene No AJ271736 OTTHUMG00000022676 X Specific Non disease gene Yes AKAP14 OTTHUMG00000022285 ENSG00000186471 NM_178813 CCDS14591 X Specific Non disease gene Yes AKAP4 OTTHUMG00000021517 ENSG00000147081 NM_003886 CCDS14330 X Specific Non disease gene No AL135749 OTTHUMG00000021810 ENSG00000186871 NM_017669 CCDS35330 X Specific Non disease gene No AL353999 OTTHUMG00000021821 X Specific Non disease gene Yes ALAS2 OTTHUMG00000021641 ENSG00000158578 NM_001037968 CCDS35303 X Specific Disease gene Yes ALG13 OTTHUMG00000022209 ENSG00000101901 NM_001099922 CCDS14559 X Specific Non disease gene Yes AMELX OTTHUMG00000021130 ENSG00000125363 NM_182680 CCDS14144 X Specific Disease gene Yes AMMECR1 OTTHUMG00000022197 ENSG00000101935 NM_015365 CCDS14551 X Specific Non disease gene Yes AMOT OTTHUMG00000022216 ENSG00000126016 NM_001113490 CCDS14563 X Specific Non disease gene Yes AP1S2 OTTHUMG00000021186 ENSG00000182287 NM_003916 CCDS14173 X Specific XLMR gene Yes APEX2 OTTHUMG00000021642 ENSG00000169188 NM_014481 CCDS14365 X Specific Non disease gene Yes APLN OTTHUMG00000022371 ENSG00000171388 NM_017413 X Specific Non disease gene Yes APOO OTTHUMG00000021259 ENSG00000184831 NM_024122 CCDS14208 X Specific Non disease gene Yes APOOL OTTHUMG00000021930 ENSG00000155008 NM_198450 X Specific Non disease gene Yes AR OTTHUMG00000021740 ENSG00000169083 NM_000044 CCDS14387 X Specific Disease gene Yes ARAF OTTHUMG00000021446 ENSG00000078061 NM_001654 CCDS35232 X Specific Non disease gene Yes ARD1A OTTHUMG00000024225 ENSG00000102030 NM_003491 CCDS14737 X Specific Non disease gene Yes ARHGAP4 OTTHUMG00000024226 ENSG00000089820 NM_001666 CCDS14736 X Specific Non disease gene Yes ARHGAP6 OTTHUMG00000021134 ENSG00000047648 NM_013427 CCDS14140 X Specific Non disease gene Yes ARHGEF6 OTTHUMG00000022518 ENSG00000129675 NM_004840 CCDS14660 X Specific XLMR gene Yes ARHGEF9 OTTHUMG00000021700 ENSG00000131089 NM_015185 CCDS35315 X Specific XLMR gene Yes ARL13A OTTHUMG00000022013 ENSG00000174225 NM_001012990 X Specific Non disease gene Yes ARMCX1 OTTHUMG00000022033 ENSG00000126947 NM_016608 CCDS14487 X Specific Non disease gene Yes ARMCX2 OTTHUMG00000022038 ENSG00000184867 NM_177949 CCDS14490 X Specific Non disease gene Yes ARMCX3 OTTHUMG00000022035 ENSG00000102401 NM_177947 CCDS14489 X Specific Non disease gene Yes ARMCX4 ENSG00000196440 X Specific Non disease gene Yes ARMCX5 OTTHUMG00000022062 ENSG00000125962 NM_022838 CCDS14500 X Specific Non disease gene Yes ARMCX6 OTTHUMG00000022034 ENSG00000198960 NM_019007 CCDS14488 X Specific Non disease gene Yes ARMCX6 OTTHUMG00000022036 X Specific Non disease gene Yes ARR3 OTTHUMG00000021768 ENSG00000120500 NM_004312 CCDS14399 X Specific Non disease gene Yes ARSD OTTHUMG00000021077 ENSG00000006756 NM_001669 CCDS35196 X Specific Non disease gene Yes ARSE OTTHUMG00000137358 ENSG00000157399 NM_000047 CCDS14122 X Specific Disease gene Yes ARSF OTTHUMG00000021081 ENSG00000062096 NM_004042 CCDS14123 X Specific Non disease gene Yes ARSH ENSG00000205667 CCDS35198 X Specific Non disease gene Yes ARX OTTHUMG00000021275 ENSG00000004848 NM_139058 CCDS14215 X Specific XLMR gene Yes ASB11 OTTHUMG00000021173 ENSG00000165192 NM_080873 CCDS14164 X Specific Non disease gene Yes ASB12 OTTHUMG00000021705 ENSG00000198881 NM_130388 CCDS14378 X Specific Non disease gene Yes ASB9 OTTHUMG00000021172 ENSG00000102048 NM_001031739 CCDS35208 X Specific Non disease gene Yes ASMT OTTHUMG00000021065 ENSG00000196433 NM_004043 CCDS14117 PAR Non disease gene Yes ASMTL OTTHUMG00000021057 ENSG00000169093 NM_004192 PAR Non disease gene Yes ATG4A OTTHUMG00000022176 ENSG00000101844 NM_178270 CCDS14538 X Specific Non disease gene Yes ATP11C OTTHUMG00000022538 ENSG00000101974 NM_001010986 CCDS35410 X Specific Non disease gene Yes ATP1B4 OTTHUMG00000022299 ENSG00000101892 NM_012069 CCDS14598 X Specific Non disease gene Yes ATP2B3 OTTHUMG00000024202 ENSG00000067842 NM_021949 CCDS35440 X Specific Non disease gene No ATP6AP1 OTTHUMG00000033291 ENSG00000071553 NM_001183 CCDS35451 X Specific Non disease gene Yes ATP6AP2 OTTHUMG00000024103 ENSG00000182220 NM_005765 CCDS14252 X Specific XLMR gene Yes ATP7A OTTHUMG00000021885 ENSG00000165240 NM_000052 CCDS35339 X Specific XLMR gene Yes ATRX OTTHUMG00000022686 ENSG00000085224 NM_000489 CCDS14435 X Specific XLMR gene Yes ATXN3L OTTHUMG00000021146 ENSG00000123594 X Specific Non disease gene Yes AVPR2 OTTHUMG00000024227 ENSG00000126895 NM_000054 CCDS14735 X Specific Disease gene Yes BCAP31 OTTHUMG00000024218 ENSG00000185825 NM_005745 CCDS14727 X Specific Non disease gene Yes BCOR OTTHUMG00000024100 ENSG00000183337 NM_017745 CCDS14250 X Specific XLMR gene Yes BCORL1 OTTHUMG00000022379 ENSG00000085185 NM_021946 CCDS14616 X Specific Non disease gene Yes BEX1 OTTHUMG00000022708 ENSG00000133169 NM_018476 CCDS35354 X Specific Non disease gene Yes BEX2 OTTHUMG00000022095 ENSG00000133134 NM_032621 CCDS14505 X Specific Non disease gene Yes BEX4 OTTHUMG00000022091 ENSG00000102409 NM_001080425 CCDS35355 X Specific Non disease gene




Yes BEX5 OTTHUMG00000022049 ENSG00000184515 NM_001012978 CCDS35350 X Specific Non disease gene Yes BGN OTTHUMG00000024205 ENSG00000182492 NM_001711 CCDS14721 X Specific Non disease gene Yes BHLHB9 OTTHUMG00000022060 ENSG00000198908 NM_030639 CCDS14502 X Specific Non disease gene Yes BIRC4 OTTHUMG00000022336 ENSG00000101966 CCDS14606 X Specific Disease gene Yes BMP15 OTTHUMG00000021525 ENSG00000130385 NM_005448 CCDS14334 X Specific Disease gene Yes BMP2KL OTTHUMG00000021848 ENSG00000204113 XM_293293 X Specific Non disease gene Yes BMX OTTHUMG00000021180 ENSG00000102010 NM_203281 CCDS14168 X Specific Non disease gene Yes BRCC3 OTTHUMG00000022658 ENSG00000185515 NM_024332 X Specific Non disease gene Yes BRS3 OTTHUMG00000022726 ENSG00000102239 NM_001727 CCDS14656 X Specific Non disease gene Yes BRWD3 OTTHUMG00000021908 ENSG00000165288 NM_153252 CCDS14447 X Specific XLMR gene Yes BTK OTTHUMG00000022022 ENSG00000010671 NM_000061 CCDS14482 X Specific Disease gene Yes C1GALT1C1 OTTHUMG00000022305 ENSG00000171155 NM_152692 CCDS14602 X Specific Disease gene Yes CA5B OTTHUMG00000021183 ENSG00000169239 NM_007220 CCDS14171 X Specific Non disease gene No CA5BL OTTHUMG00000021182 ENSG00000186312 XM_933657 X Specific Non disease gene Yes CACNA1F OTTHUMG00000022703 ENSG00000102001 NM_005183 CCDS35253 X Specific Disease gene Yes CAPN6 OTTHUMG00000022203 ENSG00000077274 NM_014289 CCDS14555 X Specific Non disease gene Yes CASK OTTHUMG00000021378 ENSG00000147044 NM_003688 CCDS14257 X Specific Non disease gene Yes CCDC120 OTTHUMG00000021509 ENSG00000147144 NM_033626 CCDS14316 X Specific Non disease gene Yes CCDC22 OTTHUMG00000024141 ENSG00000101997 NM_014008 CCDS14322 X Specific Non disease gene Yes CCNB3 OTTHUMG00000021519 ENSG00000147082 NM_033031 CCDS14331 X Specific Non disease gene Yes CD40LG OTTHUMG00000022512 ENSG00000102245 NM_000074 CCDS14659 X Specific Disease gene Yes CD99 OTTHUMG00000021073 ENSG00000002586 NM_002414 CCDS14119 PAR Non disease gene Yes CD99L2 OTTHUMG00000024247 ENSG00000102181 NM_031462 CCDS35427 X Specific Non disease gene Yes CDKL5 OTTHUMG00000021214 ENSG00000008086 NM_003159 CCDS14186 X Specific XLMR gene Yes CDR1 OTTHUMG00000137398 ENSG00000184258 NM_004065 CCDS14670 X Specific Non disease gene Yes CDX4 OTTHUMG00000021831 ENSG00000131264 NM_005193 CCDS14424 X Specific Non disease gene Yes CENPI OTTHUMG00000022018 ENSG00000102384 NM_006733 CCDS14479 X Specific Non disease gene Yes CETN2 OTTHUMG00000024246 ENSG00000147400 NM_004344 CCDS14716 X Specific Non disease gene Yes CFP OTTHUMG00000021451 ENSG00000126759 NM_002621 CCDS14282 X Specific Disease gene Yes CHIC1 OTTHUMG00000021835 ENSG00000204116 NM_001039840 X Specific Non disease gene Yes CHM OTTHUMG00000021937 ENSG00000188419 NM_000390 CCDS14454 X Specific Disease gene Yes CHRDL1 OTTHUMG00000022199 ENSG00000101938 NM_145234 CCDS14553 X Specific Non disease gene Yes CHST7 OTTHUMG00000021423 ENSG00000147119 NM_019886 CCDS14268 X Specific Non disease gene Yes CITED1 OTTHUMG00000021812 ENSG00000125931 NM_004143 CCDS14419 X Specific Non disease gene Yes CLCN4 OTTHUMG00000021125 ENSG00000073464 NM_001830 CCDS14137 X Specific Non disease gene Yes CLCN5 OTTHUMG00000021514 ENSG00000171365 NM_000084 CCDS14328 X Specific Disease gene Yes CLDN2 OTTHUMG00000022154 ENSG00000165376 NM_020384 CCDS14524 X Specific Non disease gene Yes CLIC2 OTTHUMG00000022660 ENSG00000155962 NM_001289 CCDS14767 X Specific Non disease gene Yes CNGA2 OTTHUMG00000024173 ENSG00000183862 NM_005140 CCDS14701 X Specific Non disease gene Yes CNKSR2 OTTHUMG00000021233 ENSG00000149970 NM_014927 CCDS14198 X Specific Non disease gene Yes COL4A5 OTTHUMG00000022182 ENSG00000188153 NM_033380 CCDS35366 X Specific Disease gene Yes COL4A6 OTTHUMG00000022179 ENSG00000197565 NM_033641 CCDS14542 X Specific Disease gene Yes COX7B OTTHUMG00000022718 ENSG00000131174 NM_001866 CCDS14437 X Specific Non disease gene Yes CPXCR1 OTTHUMG00000021950 ENSG00000147183 NM_033048 CCDS14458 X Specific Non disease gene No CRLF2 OTTHUMG00000067432 NM_001012288 PAR Non disease gene Yes CSAG1 OTTHUMG00000022648 ENSG00000198930 NM_153478 CCDS14711 X Specific Non disease gene Yes CSAG4 OTTHUMT00000058758 X Specific Non disease gene Yes CSF2RA OTTHUMG00000012533 ENSG00000198223 NM_006140 CCDS35191 PAR Non disease gene Yes CSTF2 OTTHUMG00000022709 ENSG00000101811 NM_001325 CCDS14473 X Specific Non disease gene Yes CT45A5 NM_001007551 X Specific Non disease gene No CT47A_HUMAN OTTHUMG00000022310 ENSG00000213505 NM_173571 CCDS35381 X Specific Non disease gene No CTAG1A OTTHUMG00000024238 ENSG00000184033 NM_001327 CCDS14758 X Specific Non disease gene No CTAG1B OTTHUMG00000024232 ENSG00000184033 NM_001327 CCDS14758 X Specific Non disease gene Yes CTAG2 OTTHUMG00000024239 ENSG00000126890 NM_172377 CCDS14759 X Specific Non disease gene Yes CTPS2 OTTHUMG00000021193 ENSG00000047230 NM_019857 CCDS14175 X Specific Non disease gene Yes CUL4B OTTHUMG00000022302 ENSG00000158290 NM_003588 CCDS35379 X Specific XLMR gene Yes CXCR3 OTTHUMG00000033326 ENSG00000186810 NM_001504 CCDS14416 X Specific Non disease gene Yes CXorf1 ENSG00000185417 CCDS14681 X Specific Non disease gene Yes CXorf15 OTTHUMG00000021196 ENSG00000086712 NM_018360 CCDS14178 X Specific Non disease gene Yes CXorf19 OTTHUMG00000022534 X Specific Non disease gene Yes CXorf20 OTTHUMG00000021211 ENSG00000177324 NM_153346 CCDS14184 X Specific Non disease gene Yes CXorf21 OTTHUMG00000021325 ENSG00000120280 NM_025159 CCDS14224 X Specific Non disease gene Yes CXorf22 OTTHUMG00000021350 ENSG00000165164 NM_152632 CCDS14237 X Specific Non disease gene Yes CXorf23 OTTHUMG00000021226 ENSG00000173681 NM_198279 CCDS14194 X Specific Non disease gene Yes CXorf24 OTTHUMG00000021445 ENSG00000196741 XM_937342 X Specific Non disease gene Yes CXorf25 OTTHUMT00000056433 X Specific Non disease gene Yes CXorf26 OTTHUMG00000021876 ENSG00000102390 NM_016500 CCDS14432 X Specific Non disease gene Yes CXorf27 OTTHUMG00000033180 ENSG00000187516 NM_012274 X Specific Non disease gene Yes CXorf28 OTTHUMG00000021082 ENSG00000205666 X Specific Non disease gene Yes CXorf29 OTTHUMG00000021331 ENSG00000205147 X Specific Non disease gene




Yes CXorf30 OTTHUMG00000021353 ENSG00000205081 NM_001098843 X Specific Non disease gene Yes CXorf31 OTTHUMG00000021429 ENSG00000204904 XM_001127244 X Specific Non disease gene Yes CXorf34 OTTHUMG00000022017 ENSG00000188917 NM_024917 CCDS14477 X Specific Non disease gene Yes CXorf36 OTTHUMG00000021403 ENSG00000147113 NM_024689 CCDS14266 X Specific Non disease gene Yes CXorf38 OTTHUMG00000024104 ENSG00000185753 NM_144970 CCDS14253 X Specific Non disease gene Yes CXorf39 OTTHUMG00000022126 ENSG00000123575 NM_207318 CCDS35364 X Specific Non disease gene No CXorf40A OTTHUMG00000034327 ENSG00000197620 NM_178124 CCDS35426 X Specific Non disease gene Yes CXorf41 OTTHUMG00000022160 ENSG00000080572 NM_173494 CCDS14528 X Specific Non disease gene Yes CXorf42 NM_173522 X Specific Non disease gene Yes CXorf45 OTTHUMG00000022210 ENSG00000101901 NM_001099922 X Specific Non disease gene Yes CXorf48 OTTHUMG00000022473 ENSG00000169551 NM_001031705 CCDS14647 X Specific Non disease gene Yes CXorf56 OTTHUMG00000022276 ENSG00000018610 NM_022101 CCDS14579 X Specific Non disease gene Yes CXorf57 OTTHUMG00000022150 ENSG00000147231 NM_018015 CCDS14519 X Specific Non disease gene Yes CXorf58 OTTHUMG00000021258 ENSG00000165182 NM_152761 CCDS14209 X Specific Non disease gene Yes CXorf59 OTTHUMG00000021351 ENSG00000176034 NM_173695 CCDS14238 X Specific Non disease gene Yes CXorf6 OTTHUMG00000024157 ENSG00000013619 X Specific Disease gene Yes CXorf61 OTTHUMG00000022244 ENSG00000204019 NM_001017978 CCDS35372 X Specific Non disease gene Yes CXorf64 OTTHUMG00000022355 ENSG00000183631 X Specific Non disease gene Yes CXorf65 OTTHUMG00000021785 ENSG00000204165 NM_001025265 X Specific Non disease gene Yes CXorf9 OTTHUMG00000022372 ENSG00000122122 NM_018990 CCDS14614 X Specific Non disease gene No CXYorf1 OTTHUMG00000022677 ENSG00000182484 X Specific Non disease gene Yes CXYorf2 OTTHUMT00000055590 PAR Non disease gene Yes CXYorf3 OTTHUMG00000021063 ENSG00000197976 NM_005088 CCDS14116 PAR Non disease gene Yes CYBB OTTHUMG00000033175 ENSG00000165168 NM_000397 CCDS14242 X Specific Disease gene Yes CYLC1 OTTHUMG00000021922 ENSG00000183035 NM_021118 CCDS35341 X Specific Non disease gene Yes CYSLTR1 OTTHUMG00000021889 ENSG00000173198 NM_006639 CCDS14439 X Specific Non disease gene Yes DACH2 OTTHUMG00000021944 ENSG00000126733 NM_053281 CCDS14455 X Specific Non disease gene Yes DCX OTTHUMG00000022204 ENSG00000077279 NM_000555 CCDS14556 X Specific XLMR gene Yes DDX26B OTTHUMG00000022484 ENSG00000165359 NM_182540 CCDS35401 X Specific Non disease gene Yes DDX3X OTTHUMG00000021369 ENSG00000215301 NM_001356 X Specific Non disease gene Yes DDX53 OTTHUMG00000021248 ENSG00000184735 NM_182699 CCDS35214 X Specific Non disease gene Yes DGAT2L3 OTTHUMG00000021773 ENSG00000204195 NM_001013579 CCDS35321 X Specific Non disease gene Yes DGAT2L4 ENSG00000147160 CCDS35320 X Specific Non disease gene Yes DGAT2L6 OTTHUMG00000021774 ENSG00000184210 NM_198512 CCDS14397 X Specific Non disease gene No DHRSX OTTHUMG00000021068 ENSG00000169084 NM_145177 CCDS35195 X Specific Non disease gene Yes DIAPH2 OTTHUMG00000022689 ENSG00000147202 NM_007309 CCDS14468 X Specific Disease gene Yes DKC1 OTTHUMG00000024242 ENSG00000130826 NM_001363 CCDS14761 X Specific XLMR gene Yes DLG3 OTTHUMG00000021778 ENSG00000082458 NM_021120 CCDS14403 X Specific XLMR gene Yes DMD OTTHUMG00000021336 ENSG00000198947 NM_004023 CCDS14232 X Specific XLMR gene No DMRTC1 OTTHUMG00000021818 ENSG00000159123 NM_033053 X Specific Non disease gene Yes DNASE1L1 OTTHUMG00000033188 ENSG00000013563 NM_006730 CCDS14747 X Specific Non disease gene No DOCK11 OTTHUMG00000022256 ENSG00000147251 NM_144658 CCDS35373 X Specific Non disease gene Yes DRP2 OTTHUMG00000022020 ENSG00000102385 NM_001939 X Specific Non disease gene Yes DUSP21 OTTHUMG00000021401 ENSG00000189037 NM_022076 CCDS14264 X Specific Non disease gene Yes DUSP9 OTTHUMG00000024211 ENSG00000130829 NM_001395 CCDS14724 X Specific Non disease gene Yes DYNLT3 OTTHUMG00000033172 ENSG00000165169 NM_006520 CCDS14243 X Specific Non disease gene Yes EBP OTTHUMG00000034482 ENSG00000147155 NM_006579 CCDS14300 X Specific Disease gene Yes EDA OTTHUMG00000021764 ENSG00000158813 NM_001399 CCDS14394 X Specific Disease gene Yes EDA2R OTTHUMG00000021736 ENSG00000131080 NM_021783 CCDS14386 X Specific Non disease gene Yes EFHC2 OTTHUMG00000021393 ENSG00000183690 NM_025184 X Specific Non disease gene Yes EFNB1 OTTHUMG00000021751 ENSG00000090776 NM_004429 CCDS14391 X Specific Disease gene Yes EGFL6 OTTHUMG00000021155 ENSG00000198759 NM_015507 CCDS14155 X Specific Non disease gene Yes EIF1AX OTTHUMG00000022704 ENSG00000173674 NM_001412 CCDS14196 X Specific Non disease gene Yes EIF2S3 OTTHUMG00000021262 ENSG00000130741 NM_001415 CCDS14210 X Specific Non disease gene Yes ELF4 OTTHUMG00000022390 ENSG00000102034 NM_001421 CCDS14617 X Specific Non disease gene Yes ELK1 OTTHUMG00000021452 ENSG00000126767 NM_001114123 CCDS14283 X Specific Non disease gene Yes EMD OTTHUMG00000033186 ENSG00000102119 NM_000117 CCDS14745 X Specific Disease gene Yes ENOX2 OTTHUMG00000022401 ENSG00000165675 NM_006375 CCDS14626 X Specific Non disease gene Yes ERAS OTTHUMG00000059533 ENSG00000187682 NM_181532 CCDS35246 X Specific Non disease gene Yes ESX1 OTTHUMG00000022125 ENSG00000123576 NM_153448 CCDS14516 X Specific Non disease gene Yes F8 OTTHUMG00000022688 ENSG00000185010 NM_000132 CCDS35457 X Specific Disease gene No F8A1 OTTHUMG00000013500 ENSG00000198444 NM_001007523 CCDS35459 X Specific Non disease gene No F8A2 OTTHUMG00000034293 ENSG00000198444 NM_001007523 CCDS35462 X Specific Non disease gene No F8A3 OTTHUMG00000034289 ENSG00000198444 NM_001007523 CCDS35463 X Specific Non disease gene Yes F9 OTTHUMG00000022536 ENSG00000101981 NM_000133 CCDS14666 X Specific Disease gene Yes FAAH2 OTTHUMG00000021684 ENSG00000165591 NM_174912 CCDS14375 X Specific Non disease gene Yes FAM104B OTTHUMG00000021646 ENSG00000182518 NM_138362 CCDS35305 X Specific Non disease gene Yes FAM120C OTTHUMG00000021625 ENSG00000184083 NM_017848 CCDS14356 X Specific Non disease gene Yes FAM122B OTTHUMG00000022461 ENSG00000156504 NM_145284 CCDS14643 X Specific Non disease gene Yes FAM122C OTTHUMG00000022716 ENSG00000156500 NM_138819 CCDS14644 X Specific Non disease gene




Yes FAM123B OTTHUMG00000021703 ENSG00000184675 NM_152424 CCDS14377 X Specific Non disease gene Yes FAM127A OTTHUMG00000022465 ENSG00000134590 NM_001078171 X Specific Non disease gene Yes FAM133A OTTHUMG00000021975 ENSG00000179083 NM_173698 CCDS14466 X Specific Non disease gene Yes FAM3A OTTHUMG00000013418 ENSG00000071889 NM_021806 CCDS35453 X Specific Non disease gene Yes FAM45B OTTHUMG00000022399 ENSG00000203956 NM_018472 X Specific Non disease gene Yes FAM46D OTTHUMG00000021902 ENSG00000174016 NM_152630 CCDS14446 X Specific Non disease gene Yes FAM47A OTTHUMG00000021339 ENSG00000185448 NM_203408 X Specific Non disease gene Yes FAM47B OTTHUMG00000021345 ENSG00000189132 NM_152631 CCDS14236 X Specific Non disease gene Yes FAM47C OTTHUMG00000024025 ENSG00000198173 NM_001013736 CCDS35227 X Specific Non disease gene Yes FAM50A OTTHUMG00000033292 ENSG00000071859 NM_004699 CCDS14751 X Specific Non disease gene Yes FAM58A OTTHUMG00000024206 ENSG00000147382 NM_152274 CCDS14723 X Specific Non disease gene Yes FAM70A OTTHUMG00000022298 ENSG00000125355 NM_017938 CCDS14597 X Specific Non disease gene Yes FAM9A OTTHUMG00000021110 ENSG00000183304 NM_174951 CCDS14131 X Specific Non disease gene Yes FAM9B OTTHUMG00000021114 ENSG00000177138 NM_205849 CCDS14132 X Specific Non disease gene Yes FAM9C OTTHUMG00000021143 ENSG00000187268 NM_174901 CCDS35203 X Specific Non disease gene Yes FANCB OTTHUMG00000021168 ENSG00000181544 NM_152633 CCDS14161 X Specific XLMR gene Yes FATE1 OTTHUMG00000024172 ENSG00000147378 NM_033085 CCDS14700 X Specific Non disease gene Yes FGD1 OTTHUMG00000021627 ENSG00000102302 NM_004463 CCDS14359 X Specific XLMR gene Yes FGF13 OTTHUMG00000022532 ENSG00000129682 NM_004114 CCDS14665 X Specific Non disease gene Yes FGF16 OTTHUMG00000013133 ENSG00000196468 NM_003868 X Specific Non disease gene Yes FHL1 OTTHUMG00000022504 ENSG00000022267 NM_001449 CCDS14655 X Specific Non disease gene Yes FIGF OTTHUMG00000021175 ENSG00000165197 NM_004469 CCDS14166 X Specific Non disease gene Yes FLJ44635 NM_207422 X Specific Non disease gene Yes FLNA OTTHUMG00000022712 ENSG00000196924 NM_001110556 X Specific XLMR gene Yes FMR1 OTTHUMG00000022606 ENSG00000102081 NM_002024 CCDS14682 X Specific XLMR gene Yes FMR1NB OTTHUMG00000022608 ENSG00000176988 NM_152578 CCDS14683 X Specific Non disease gene Yes FOXO4 OTTHUMG00000021789 ENSG00000184481 NM_005938 X Specific Non disease gene Yes FOXP3 OTTHUMG00000024135 ENSG00000049768 NM_014009 CCDS14323 X Specific Disease gene Yes FOXR2 ENSG00000189299 CCDS35308 X Specific Non disease gene Yes FRMD7 OTTHUMG00000022421 ENSG00000165694 NM_194277 CCDS35397 X Specific Non disease gene Yes FRMPD3 OTTHUMG00000022165 ENSG00000147234 XM_042978 X Specific Non disease gene Yes FRMPD4 OTTHUMG00000021138 ENSG00000169933 NM_014728 CCDS35201 X Specific Non disease gene Yes FTHL17 OTTHUMG00000021332 ENSG00000132446 NM_031894 CCDS14227 X Specific Non disease gene Yes FTSJ1 OTTHUMG00000024118 ENSG00000068438 NM_012280 CCDS14295 X Specific XLMR gene Yes FUNDC1 OTTHUMG00000021399 ENSG00000069509 NM_173794 CCDS14263 X Specific Non disease gene Yes FUNDC2 OTTHUMG00000013504 ENSG00000165775 NM_023934 CCDS14763 X Specific Non disease gene Yes FXYD8 OTTHUMG00000021837 ENSG00000182707 NM_001099278 X Specific Non disease gene Yes G6PD OTTHUMG00000024237 ENSG00000160211 NM_001042351 CCDS14756 X Specific Disease gene Yes GAB3 OTTHUMG00000024245 ENSG00000160219 NM_080612 CCDS14760 X Specific Non disease gene Yes GABRA3 OTTHUMG00000024183 ENSG00000011677 NM_000808 CCDS14706 X Specific Non disease gene Yes GABRE OTTHUMG00000024176 ENSG00000102287 NM_004961 CCDS14703 X Specific Non disease gene Yes GABRQ OTTHUMG00000022649 ENSG00000147402 NM_018558 CCDS14707 X Specific Non disease gene No GAGE1 OTTHUMG00000024150 ENSG00000205777 NM_001098409 CCDS14325 X Specific Non disease gene No GAGE10 OTTHUMG00000024136 ENSG00000215276 NM_001098413 X Specific Non disease gene No GAGE12B OTTHUMG00000024142 X Specific Non disease gene No GAGE12C OTTHUMG00000024144 ENSG00000215266 NM_001098408 X Specific Non disease gene No GAGE12D OTTHUMG00000024145 ENSG00000215266 NM_001085441 X Specific Non disease gene No GAGE12E OTTHUMG00000024146 ENSG00000215266 NM_001098418 X Specific Non disease gene No GAGE12F OTTHUMG00000024147 ENSG00000198716 NM_001098405 CCDS35259 X Specific Non disease gene No GAGE12G OTTHUMG00000024148 ENSG00000198716 NM_001098409 CCDS35259 X Specific Non disease gene No GAGE12H OTTHUMG00000024149 ENSG00000215266 NM_001098410 X Specific Non disease gene No GAGE12I OTTHUMG00000067390 ENSG00000198716 NM_001474 CCDS35259 X Specific Non disease gene No GAGE12J OTTHUMG00000024137 ENSG00000215275 NM_001098406 X Specific Non disease gene No GAGE13 OTTHUMG00000024138 X Specific Non disease gene No GAGE2A OTTHUMG00000024143 ENSG00000205775 NM_001472 CCDS35257 X Specific Non disease gene No GAGE2B OTTHUMG00000067391 X Specific Non disease gene No GAGE2C OTTHUMG00000067392 ENSG00000205775 NM_001098407 CCDS35260 X Specific Non disease gene No GAGE2D OTTHUMG00000067393 X Specific Non disease gene No GAGE2E OTTHUMG00000067394 ENSG00000189064 NM_001098407 CCDS35257 X Specific Non disease gene Yes GATA1 OTTHUMG00000021504 ENSG00000102145 NM_002049 CCDS14305 X Specific Disease gene No GDI1 OTTHUMG00000033293 ENSG00000203879 NM_001493 CCDS35452 X Specific XLMR gene Yes GDPD2 OTTHUMG00000021776 ENSG00000130055 NM_017711 CCDS14402 X Specific Non disease gene Yes GEMIN8 OTTHUMG00000021160 ENSG00000046647 NM_001042480 CCDS14159 X Specific Non disease gene Yes GJB1 OTTHUMG00000021797 ENSG00000169562 NM_001097642 CCDS14408 X Specific Disease gene Yes GK OTTHUMG00000021328 ENSG00000198814 NM_203391 CCDS14225 X Specific XLMR gene Yes GLA OTTHUMG00000022026 ENSG00000102393 NM_000169 CCDS14484 X Specific Disease gene Yes GLOD5 OTTHUMG00000024125 ENSG00000171433 NM_001080489 X Specific Non disease gene Yes GLRA2 OTTHUMG00000021166 ENSG00000101958 NM_002063 CCDS14160 X Specific Non disease gene Yes GLRA4 OTTHUMG00000022110 ENSG00000188828 NM_001024452 X Specific Non disease gene Yes GLUD2 OTTHUMG00000022320 ENSG00000182890 NM_012084 CCDS14603 X Specific Non disease gene




Yes GNL3L OTTHUMG00000021629 ENSG00000130119 NM_019067 CCDS14360 X Specific Non disease gene Yes GPC3 OTTHUMG00000022448 ENSG00000147257 NM_004484 CCDS14638 X Specific XLMR gene Yes GPC4 OTTHUMG00000022434 ENSG00000076716 NM_001448 CCDS14637 X Specific Non disease gene Yes GPKOW ENSG00000068394 NM_015698 CCDS35251 X Specific Non disease gene Yes GPM6B OTTHUMG00000021162 ENSG00000046653 NM_001001995 CCDS14158 X Specific Non disease gene Yes GPR101 OTTHUMG00000022521 ENSG00000165370 NM_054021 CCDS14662 X Specific Non disease gene Yes GPR112 OTTHUMG00000022508 ENSG00000156920 NM_153834 CCDS35409 X Specific Non disease gene Yes GPR119 OTTHUMG00000022397 ENSG00000147262 NM_178471 CCDS14625 X Specific Non disease gene Yes GPR143 OTTHUMG00000021118 ENSG00000101850 NM_000273 CCDS14134 X Specific Disease gene Yes GPR173 OTTHUMG00000021596 ENSG00000184194 NM_018969 CCDS14349 X Specific Non disease gene Yes GPR174 OTTHUMG00000021898 ENSG00000147138 NM_032553 CCDS14443 X Specific Non disease gene Yes GPR23 OTTHUMG00000021895 ENSG00000147145 NM_005296 CCDS14441 X Specific Non disease gene Yes GPR34 OTTHUMG00000021375 ENSG00000171659 NM_001097579 CCDS14258 X Specific Non disease gene Yes GPR50 OTTHUMG00000024166 ENSG00000102195 NM_004224 X Specific Non disease gene Yes GPR64 OTTHUMG00000021223 ENSG00000173698 NM_001079858 CCDS14191 X Specific Non disease gene Yes GPR82 OTTHUMG00000021373 ENSG00000171657 NM_080817 CCDS14259 X Specific Non disease gene Yes GPRASP1 OTTHUMG00000022061 ENSG00000198932 NM_001099411 CCDS35352 X Specific Non disease gene Yes GPRASP2 OTTHUMG00000022059 ENSG00000158301 NM_138437 CCDS14501 X Specific Non disease gene Yes GRIA3 OTTHUMG00000022685 ENSG00000125675 NM_007325 CCDS14604 X Specific XLMR gene Yes GRIPAP1 OTTHUMG00000033192 ENSG00000068400 NM_020137 CCDS35248 X Specific Non disease gene Yes GRPR OTTHUMG00000021189 ENSG00000126010 NM_005314 CCDS14174 X Specific Non disease gene Yes GS1-256O22 OTTHUMG00000022580 ENSG00000179542 NM_173078 CCDS14679 X Specific Non disease gene No GS1-421I3 OTTHUMG00000022288 X Specific Non disease gene Yes GS1-421I3 OTTHUMG00000022290 ENSG00000101883 NM_139282 CCDS14593 X Specific Non disease gene No GS1-484O17 OTTHUMG00000021326 ENSG00000178556 X Specific Non disease gene Yes GSPT2 OTTHUMG00000021538 ENSG00000189369 NM_018094 CCDS14336 X Specific Non disease gene Yes GTPBP6 OTTHUMG00000022694 ENSG00000178605 NM_012227 PAR Non disease gene Yes GUCY2F OTTHUMG00000022184 ENSG00000101890 NM_001522 CCDS14545 X Specific Non disease gene Yes GYG2 OTTHUMG00000021079 ENSG00000056998 NM_001079855 CCDS14121 X Specific Non disease gene No H2AFB1 OTTHUMG00000034291 ENSG00000198307 NM_001017991 CCDS35458 X Specific Non disease gene No H2AFB2 OTTHUMG00000034292 ENSG00000198307 NM_001017991 CCDS35461 X Specific Non disease gene No H2AFB3 OTTHUMG00000022670 ENSG00000198307 NM_001017991 CCDS35464 X Specific Non disease gene No H2BFM OTTHUMG00000022122 ENSG00000101812 XM_936705 X Specific Non disease gene Yes H2BFWT OTTHUMG00000022120 ENSG00000123569 NM_001002916 CCDS35362 X Specific Non disease gene Yes HCCS OTTHUMG00000021128 ENSG00000004961 NM_001122608 CCDS14139 X Specific XLMR gene Yes HCFC1 OTTHUMG00000024222 ENSG00000172534 NM_005334 X Specific Non disease gene Yes HDAC6 OTTHUMG00000034496 ENSG00000094631 NM_006044 CCDS14306 X Specific Non disease gene Yes HDAC8 OTTHUMG00000021814 ENSG00000147099 NM_018486 CCDS14420 X Specific Non disease gene Yes HDHD1A OTTHUMG00000021101 ENSG00000130021 NM_012080 X Specific Non disease gene Yes HDX OTTHUMG00000021926 ENSG00000165259 NM_144657 CCDS35342 X Specific Non disease gene Yes HEPH OTTHUMG00000021732 ENSG00000089472 NM_138737 CCDS14384 X Specific Non disease gene Yes HMGB3 OTTHUMG00000024162 ENSG00000029993 NM_005342 CCDS35428 X Specific Non disease gene Yes HNRPH2 OTTHUMG00000022029 ENSG00000126945 NM_001032393 CCDS14485 X Specific Non disease gene Yes HPRT1 OTTHUMG00000022452 ENSG00000165704 NM_000194 CCDS14641 X Specific XLMR gene Yes HS6ST2 OTTHUMG00000022430 ENSG00000171004 NM_001077188 X Specific Non disease gene Yes HSD17B10 OTTHUMG00000021612 ENSG00000072506 NM_004493 CCDS14354 X Specific XLMR gene No HSFX1 OTTHUMG00000022626 ENSG00000171129 NM_016153 CCDS14688 X Specific Non disease gene No HSFX2 OTTHUMG00000022630 XM_001126546 X Specific Non disease gene Yes HTATSF1 OTTHUMG00000022510 ENSG00000102241 NM_014500 CCDS14657 X Specific Non disease gene Yes HTR2C OTTHUMG00000022226 ENSG00000147246 NM_000868 CCDS14564 X Specific Non disease gene Yes HUWE1 OTTHUMG00000021617 ENSG00000086758 NM_031407 CCDS35301 X Specific XLMR gene No IDH3G OTTHUMG00000024219 ENSG00000067829 NM_004135 CCDS14730 X Specific Non disease gene Yes IDS OTTHUMG00000022615 ENSG00000010404 NM_000202 CCDS14685 X Specific XLMR gene Yes IGBP1 OTTHUMG00000021767 ENSG00000089289 NM_001551 CCDS14396 X Specific XLMR gene Yes IGSF1 OTTHUMG00000022406 ENSG00000147255 NM_001555 CCDS14629 X Specific Non disease gene Yes IKBKG OTTHUMG00000024234 ENSG00000073009 NM_001099856 CCDS14757 X Specific XLMR gene Yes IL13RA1 OTTHUMG00000022258 ENSG00000131724 NM_001560 CCDS14573 X Specific Non disease gene Yes IL13RA2 OTTHUMG00000022229 ENSG00000123496 NM_000640 CCDS14565 X Specific Non disease gene Yes IL1RAPL1 OTTHUMG00000021317 ENSG00000169306 NM_014271 CCDS14218 X Specific XLMR gene Yes IL1RAPL2 OTTHUMG00000022141 ENSG00000189108 NM_017416 CCDS14517 X Specific Non disease gene Yes IL2RG OTTHUMG00000021787 ENSG00000147168 NM_000206 CCDS14406 X Specific Disease gene Yes IL3RA OTTHUMG00000021059 ENSG00000185291 NM_002183 CCDS14113 PAR Non disease gene Yes IL9R OTTHUMG00000022720 ENSG00000124334 NM_176786 CCDS14771 PAR Non disease gene Yes INE1 OTTHUMG00000046428 ENSG00000197680 X Specific Non disease gene Yes IQSEC2 OTTHUMG00000021608 ENSG00000124313 NM_015075 CCDS35298 X Specific Non disease gene Yes IRAK1 OTTHUMG00000024228 ENSG00000184216 NM_001569 CCDS14740 X Specific Non disease gene Yes IRS4 OTTHUMG00000022181 ENSG00000133124 NM_003604 CCDS14544 X Specific Non disease gene Yes ITGB1BP2 OTTHUMG00000021793 ENSG00000147166 NM_012278 CCDS14411 X Specific Non disease gene Yes ITIH5L OTTHUMG00000021634 ENSG00000102313 NM_198510 CCDS14361 X Specific Non disease gene Yes ITM2A OTTHUMG00000021900 ENSG00000078596 NM_004867 CCDS14444 X Specific Non disease gene




Yes JARID1C OTTHUMG00000021606 ENSG00000126012 NM_004187 CCDS14351 X Specific XLMR gene Yes KAL1 OTTHUMG00000021107 ENSG00000011201 NM_000216 CCDS14130 X Specific Disease gene Yes KCND1 OTTHUMG00000024127 ENSG00000102057 NM_004979 CCDS14314 X Specific Non disease gene Yes KCNE1L OTTHUMG00000022189 ENSG00000176076 NM_012282 CCDS14547 X Specific Non disease gene Yes KCTD9L OTTHUMG00000022140 ENSG00000181819 X Specific Non disease gene Yes KIAA1166 OTTHUMG00000021712 ENSG00000126970 NM_018684 CCDS14380 X Specific Non disease gene Yes KIAA2022 OTTHUMG00000021860 ENSG00000050030 NM_001008537 CCDS35337 X Specific XLMR gene Yes KIF4A OTTHUMG00000021775 ENSG00000090889 NM_012310 CCDS14401 X Specific Non disease gene Yes KLF8 OTTHUMG00000021666 ENSG00000102349 NM_007250 CCDS14373 X Specific XLMR gene Yes KLHL13 OTTHUMG00000022252 ENSG00000003096 NM_033495 CCDS14571 X Specific Non disease gene Yes KLHL15 OTTHUMG00000021261 ENSG00000174010 NM_030624 CCDS35217 X Specific Non disease gene Yes KLHL34 OTTHUMG00000021234 ENSG00000185915 NM_153270 CCDS14199 X Specific Non disease gene Yes KLHL4 OTTHUMG00000021946 ENSG00000102271 NM_057162 CCDS14457 X Specific Non disease gene Yes L1CAM OTTHUMG00000024221 ENSG00000198910 NM_024003 CCDS14734 X Specific XLMR gene Yes LAGE3 OTTHUMG00000033294 ENSG00000196976 NM_006014 CCDS14753 X Specific Non disease gene Yes LAMP2 OTTHUMG00000022301 ENSG00000005893 NM_002294 CCDS14599 X Specific XLMR gene Yes LANCL3 OTTHUMG00000033177 ENSG00000147036 NM_198511 CCDS14240 X Specific Non disease gene Yes LAS1L OTTHUMG00000021720 ENSG00000001497 NM_031206 CCDS14381 X Specific Non disease gene Yes LCAP OTTHUMG00000058499 ENSG00000196987 NM_001039768 CCDS35442 X Specific Non disease gene Yes LDOC1 OTTHUMG00000022558 ENSG00000182195 NM_012317 CCDS14672 X Specific Non disease gene Yes LHFPL1 OTTHUMG00000022214 ENSG00000182508 NM_178175 CCDS14562 X Specific Non disease gene Yes LONRF3 OTTHUMG00000022262 ENSG00000175556 NM_001031855 CCDS14575 X Specific Non disease gene Yes LRCH2 OTTHUMG00000022233 ENSG00000130224 NM_020871 X Specific Non disease gene Yes LUZP4 OTTHUMG00000022234 ENSG00000102021 NM_016383 CCDS14567 X Specific Non disease gene Yes MAGEA1 OTTHUMG00000024192 ENSG00000198681 NM_004988 CCDS14720 X Specific Non disease gene Yes MAGEA10 OTTHUMG00000024180 ENSG00000124260 NM_021048 CCDS14705 X Specific Non disease gene Yes MAGEA11 OTTHUMG00000022633 ENSG00000185247 NM_001011544 CCDS14690 X Specific Non disease gene Yes MAGEA12 OTTHUMG00000022650 ENSG00000197172 NM_005367 CCDS14710 X Specific Non disease gene No MAGEA2 OTTHUMG00000022639 ENSG00000184750 NM_175743 CCDS14713 X Specific Non disease gene No MAGEA2B OTTHUMG00000022645 ENSG00000184750 NM_153488 CCDS14713 X Specific Non disease gene Yes MAGEA3 OTTHUMG00000022640 ENSG00000213401 NM_005362 CCDS14715 X Specific Non disease gene Yes MAGEA4 OTTHUMG00000024174 ENSG00000147381 NM_001011548 CCDS14702 X Specific Non disease gene Yes MAGEA5 ENSG00000183686 CCDS14704 X Specific Non disease gene Yes MAGEA6 OTTHUMG00000022642 ENSG00000183305 NM_175868 CCDS14708 X Specific Non disease gene Yes MAGEA8 OTTHUMG00000022635 ENSG00000156009 NM_005364 CCDS14692 X Specific Non disease gene No MAGEA9 OTTHUMG00000022627 ENSG00000123584 NM_001080790 CCDS14691 X Specific Non disease gene No MAGEA9B OTTHUMG00000022621 ENSG00000123584 NM_001080790 CCDS35423 X Specific Non disease gene Yes MAGEB1 OTTHUMG00000021322 ENSG00000214107 NM_002363 CCDS14222 X Specific Non disease gene Yes MAGEB10 OTTHUMG00000046084 ENSG00000177689 NM_182506 CCDS35221 X Specific Non disease gene No MAGEB16 OTTHUMG00000021348 ENSG00000189023 NM_001099921 X Specific Non disease gene No MAGEB17 OTTHUMG00000021188 X Specific Non disease gene Yes MAGEB18 OTTHUMG00000021282 ENSG00000176774 NM_173699 CCDS14216 X Specific Non disease gene Yes MAGEB2 OTTHUMG00000021319 ENSG00000099399 NM_002364 CCDS14219 X Specific Non disease gene Yes MAGEB3 OTTHUMG00000021320 ENSG00000198798 NM_002365 CCDS14220 X Specific Non disease gene Yes MAGEB4 OTTHUMG00000021321 ENSG00000120289 NM_002367 CCDS14221 X Specific Non disease gene Yes MAGEB5 OTTHUMG00000021288 ENSG00000188408 XM_942614 X Specific Non disease gene Yes MAGEB6 OTTHUMG00000021285 ENSG00000176746 NM_173523 CCDS14217 X Specific Non disease gene Yes MAGEC1 OTTHUMG00000022569 ENSG00000155495 NM_005462 CCDS35417 X Specific Non disease gene Yes MAGEC2 OTTHUMG00000022574 ENSG00000046774 NM_016249 CCDS14678 X Specific Non disease gene Yes MAGEC3 OTTHUMG00000022570 ENSG00000165509 NM_138702 CCDS14676 X Specific Non disease gene Yes MAGED1 OTTHUMG00000021540 ENSG00000179222 NM_001005332 CCDS14337 X Specific Non disease gene Yes MAGED2 OTTHUMG00000021638 ENSG00000102316 NM_177433 CCDS14362 X Specific Non disease gene No MAGED4 OTTHUMG00000042235 ENSG00000187243 NM_030801 CCDS14338 X Specific Non disease gene No MAGED4B OTTHUMG00000021546 ENSG00000187243 NM_030801 CCDS14338 X Specific Non disease gene Yes MAGEE1 OTTHUMG00000021879 ENSG00000198934 NM_020932 CCDS14433 X Specific Non disease gene Yes MAGEE2 OTTHUMG00000021870 ENSG00000186675 NM_138703 CCDS14431 X Specific Non disease gene Yes MAGEH1 OTTHUMG00000021655 ENSG00000187601 NM_014061 CCDS14369 X Specific Non disease gene Yes MAGIX OTTHUMG00000034501 ENSG00000017621 NM_001099682 X Specific Non disease gene Yes MAOA OTTHUMG00000021387 ENSG00000189221 NM_000240 CCDS14260 X Specific XLMR gene Yes MAOB OTTHUMG00000021388 ENSG00000069535 NM_000898 CCDS14261 X Specific Non disease gene Yes MAP3K15 OTTHUMG00000022724 ENSG00000180815 NM_001001671 CCDS35212 X Specific Non disease gene Yes MAP3K7IP3 OTTHUMG00000021329 ENSG00000157625 NM_152787 CCDS14226 X Specific Non disease gene Yes MAP7D2 OTTHUMG00000021228 ENSG00000184368 NM_152780 CCDS14195 X Specific Non disease gene Yes MAP7D3 OTTHUMG00000022507 ENSG00000129680 NM_024597 X Specific Non disease gene Yes MBNL3 OTTHUMG00000022426 ENSG00000076770 NM_018388 CCDS14633 X Specific Non disease gene No MBTPS2 OTTHUMG00000021237 ENSG00000012174 NM_015884 CCDS14201 X Specific Non disease gene No MCART6 OTTHUMG00000022124 ENSG00000176274 NM_001012755 CCDS35363 X Specific Non disease gene Yes MCF2 OTTHUMG00000022537 ENSG00000101977 NM_005369 CCDS14667 X Specific Non disease gene Yes MCTS1 OTTHUMG00000022303 ENSG00000101898 NM_014060 CCDS14601 X Specific Non disease gene Yes MECP2 OTTHUMG00000024229 ENSG00000169057 NM_004992 CCDS14741 X Specific XLMR gene




Yes MED12 OTTHUMG00000021788 ENSG00000184634 NM_005120 X Specific XLMR gene Yes MED14 OTTHUMG00000024107 ENSG00000180182 NM_004229 CCDS14254 X Specific Non disease gene Yes MID1 OTTHUMG00000021127 ENSG00000101871 NM_001098624 CCDS14138 X Specific XLMR gene Yes MID1IP1 OTTHUMG00000024092 ENSG00000165175 NM_001098791 CCDS14249 X Specific Non disease gene Yes MID2 OTTHUMG00000022171 ENSG00000080561 NM_012216 CCDS14532 X Specific Non disease gene Yes MKRNP5 OTTHUMT00000060698 X Specific Non disease gene Yes MORC4 OTTHUMG00000022155 ENSG00000133131 NM_001085354 CCDS14525 X Specific Non disease gene Yes MORF4L2 OTTHUMG00000022104 ENSG00000123562 NM_012286 CCDS14512 X Specific Non disease gene Yes MOSPD1 OTTHUMG00000035315 ENSG00000101928 NM_019556 CCDS14645 X Specific Non disease gene Yes MOSPD2 OTTHUMG00000021170 ENSG00000130150 NM_152581 CCDS14162 X Specific Non disease gene Yes MPP1 OTTHUMG00000024244 ENSG00000130830 NM_002436 CCDS14762 X Specific Non disease gene No MRTC1B OTTHUMG00000021820 X Specific Non disease gene Yes MSL3L1 OTTHUMG00000021132 ENSG00000005302 NM_078629 CCDS14147 X Specific Non disease gene Yes MSN OTTHUMG00000021723 ENSG00000147065 NM_002444 CCDS14382 X Specific Non disease gene Yes MTCP1 OTTHUMG00000022656 ENSG00000214827 NM_001018025 CCDS14764 X Specific Non disease gene Yes MTM1 OTTHUMG00000024158 ENSG00000171100 NM_000252 CCDS14694 X Specific XLMR gene Yes MTMR1 OTTHUMG00000024159 ENSG00000063601 NM_003828 CCDS14695 X Specific Non disease gene Yes MTMR8 OTTHUMG00000021707 ENSG00000102043 NM_017677 CCDS14379 X Specific Non disease gene Yes MUM1L1 OTTHUMG00000022146 ENSG00000157502 NM_152423 X Specific Non disease gene Yes MXRA5 OTTHUMG00000021083 ENSG00000101825 NM_015419 CCDS14124 X Specific Non disease gene Yes MYCL2 OTTHUMG00000022162 X Specific Non disease gene Yes NAP1L2 OTTHUMG00000021827 ENSG00000186462 NM_021963 CCDS14423 X Specific Non disease gene Yes NAP1L3 OTTHUMG00000021974 ENSG00000186310 NM_004538 CCDS14465 X Specific Non disease gene Yes NAP1L6 OTTHUMG00000021826 ENSG00000204118 X Specific Non disease gene Yes NCBP2L OTTHUMG00000022169 ENSG00000170935 X Specific Non disease gene Yes NDP OTTHUMG00000021391 ENSG00000124479 NM_000266 CCDS14262 X Specific XLMR gene Yes NDUFA1 OTTHUMG00000022287 ENSG00000125356 NM_004541 CCDS14590 X Specific XLMR gene Yes NDUFB11 OTTHUMG00000021433 ENSG00000147123 NM_019056 CCDS14273 X Specific Non disease gene Yes NGFRAP1 OTTHUMG00000022099 ENSG00000166681 NM_206917 CCDS14509 X Specific Non disease gene Yes NHS OTTHUMG00000022799 ENSG00000188158 NM_198270 CCDS14181 X Specific XLMR gene Yes NKAP OTTHUMG00000022284 ENSG00000101882 NM_024528 CCDS14592 X Specific Non disease gene Yes NKRF OTTHUMG00000022277 ENSG00000186416 NM_017544 CCDS35375 X Specific Non disease gene Yes NLGN3 OTTHUMG00000021790 ENSG00000196338 NM_018977 CCDS14407 X Specific XLMR gene Yes NLGN4X OTTHUMG00000021093 ENSG00000146938 NM_020742 CCDS14126 X Specific XLMR gene Yes NONO OTTHUMG00000021798 ENSG00000147140 NM_007363 CCDS14410 X Specific Non disease gene Yes NOX1 OTTHUMG00000022007 ENSG00000007952 NM_013955 CCDS14475 X Specific Non disease gene Yes NP_689795 ENSG00000203948 X Specific Non disease gene Yes NR0B1 OTTHUMG00000021323 ENSG00000169297 NM_000475 CCDS14223 X Specific Non disease gene Yes NRK ENSG00000123572 X Specific Non disease gene Yes NSBP1 OTTHUMG00000021911 ENSG00000198157 NM_030763 CCDS14448 X Specific Non disease gene Yes NSDHL OTTHUMG00000024185 ENSG00000147383 NM_015922 CCDS14717 X Specific Disease gene Yes NUDT10 OTTHUMG00000021530 ENSG00000122824 NM_153183 CCDS35278 X Specific Non disease gene Yes NUDT11 OTTHUMG00000021531 ENSG00000196368 NM_018159 X Specific Non disease gene Yes NUP62CL OTTHUMG00000022159 ENSG00000198088 NM_017681 CCDS14527 X Specific Non disease gene No NXF2 OTTHUMG00000022053 ENSG00000185554 NM_017809 CCDS14497 X Specific Non disease gene No NXF2B OTTHUMG00000022719 ENSG00000185554 NM_001099686 CCDS14497 X Specific Non disease gene Yes NXF3 OTTHUMG00000022088 ENSG00000147206 NM_022052 CCDS14503 X Specific Non disease gene Yes NXF5 OTTHUMG00000022042 ENSG00000126952 NM_032946 CCDS14491 X Specific XLMR gene Yes NXT2 OTTHUMG00000022185 ENSG00000101888 NM_018698 CCDS14546 X Specific Non disease gene Yes NYX OTTHUMG00000021370 ENSG00000188937 NM_022567 CCDS14256 X Specific Disease gene Yes OCRL OTTHUMG00000022706 ENSG00000122126 NM_000276 CCDS35393 X Specific XLMR gene Yes ODZ1 OTTHUMG00000022721 ENSG00000009694 NM_014253 CCDS14609 X Specific Non disease gene Yes OFD1 OTTHUMG00000021159 ENSG00000046651 NM_003611 CCDS14157 X Specific XLMR gene Yes OGT OTTHUMG00000033316 ENSG00000147162 NM_181672 CCDS14414 X Specific Non disease gene Yes OPHN1 OTTHUMG00000021744 ENSG00000079482 NM_002547 CCDS14388 X Specific XLMR gene Yes OPN1LW OTTHUMG00000034295 ENSG00000102076 NM_020061 CCDS14742 X Specific Disease gene No OPN1MW OTTHUMG00000022652 ENSG00000166160 NM_001048181 CCDS14743 X Specific Disease gene No OPN1MW2 OTTHUMG00000024231 ENSG00000166160 NM_001048181 CCDS35447 X Specific Non disease gene Yes OR13H1 OTTHUMG00000022411 ENSG00000171054 NM_001004486 CCDS35396 X Specific Non disease gene Yes OTC OTTHUMG00000022727 ENSG00000036473 NM_000531 CCDS14247 X Specific XLMR gene Yes OTUD5 OTTHUMG00000024130 ENSG00000068308 NM_017602 CCDS14313 X Specific Non disease gene Yes OTUD6A ENSG00000189401 CCDS14395 X Specific Non disease gene Yes P2RY10 OTTHUMG00000021896 ENSG00000078589 NM_198333 CCDS14442 X Specific Non disease gene Yes P2RY4 OTTHUMG00000021769 ENSG00000186912 NM_002565 CCDS14398 X Specific Non disease gene Yes P2RY8 OTTHUMG00000021060 ENSG00000182162 NM_178129 CCDS14115 PAR Non disease gene Yes PABPC5 OTTHUMG00000021959 ENSG00000174740 NM_080832 CCDS14460 X Specific Non disease gene Yes PAGE1 OTTHUMG00000033224 ENSG00000068985 NM_003785 CCDS14327 X Specific Non disease gene No PAGE2 OTTHUMG00000021648 ENSG00000187761 NM_207339 CCDS14367 X Specific Non disease gene No PAGE2B OTTHUMG00000021645 ENSG00000187761 NM_001015038 CCDS35304 X Specific Non disease gene Yes PAGE3 OTTHUMG00000021654 ENSG00000204279 NM_001017931 CCDS35307 X Specific Non disease gene




Yes PAGE4 OTTHUMG00000024155 ENSG00000101951 NM_007003 CCDS35274 X Specific Non disease gene Yes PAGE5 OTTHUMG00000021650 ENSG00000158639 NM_130467 CCDS14368 X Specific Non disease gene Yes PAK3 OTTHUMG00000022202 ENSG00000077264 NM_002578 CCDS14554 X Specific XLMR gene Yes PASD1 OTTHUMG00000024169 ENSG00000166049 NM_173493 CCDS35431 X Specific Non disease gene Yes PCDH11X OTTHUMG00000021965 ENSG00000102290 NM_032967 CCDS14464 X Specific Non disease gene Yes PCDH19 OTTHUMG00000022000 ENSG00000165194 NM_020766 X Specific Non disease gene Yes PCSK1N OTTHUMG00000034502 ENSG00000102109 NM_013271 CCDS14307 X Specific Non disease gene Yes PCTK1 OTTHUMG00000021438 ENSG00000102225 NM_033018 CCDS14276 X Specific Non disease gene Yes PCYT1B OTTHUMG00000021270 ENSG00000102230 NM_004845 CCDS14213 X Specific Non disease gene Yes PDHA1 OTTHUMG00000021224 ENSG00000131828 NM_000284 CCDS14192 X Specific XLMR gene Yes PDK3 OTTHUMG00000021269 ENSG00000067992 NM_005391 CCDS14212 X Specific Non disease gene Yes PDZD11 OTTHUMG00000021771 ENSG00000120509 NM_016484 CCDS14400 X Specific Non disease gene Yes PDZD4 OTTHUMG00000024209 ENSG00000067840 NM_032512 CCDS14732 X Specific Non disease gene Yes PFKFB1 OTTHUMG00000021643 ENSG00000158571 NM_002625 CCDS14364 X Specific Non disease gene Yes PGAM4 OTTHUMG00000057865 ENSG00000186076 NM_001029891 CCDS35338 X Specific Non disease gene Yes PGK1 OTTHUMG00000021888 ENSG00000102144 NM_000291 CCDS14438 X Specific XLMR gene Yes PGRMC1 OTTHUMG00000022268 ENSG00000101856 NM_006667 CCDS14576 X Specific Non disease gene Yes PHEX OTTHUMG00000021241 ENSG00000102174 NM_000444 CCDS14204 X Specific Disease gene Yes PHF16 OTTHUMG00000021431 ENSG00000102221 NM_001077445 CCDS14271 X Specific Non disease gene Yes PHF6 OTTHUMG00000022453 ENSG00000156531 NM_032458 CCDS14639 X Specific XLMR gene Yes PHF8 OTTHUMG00000021622 ENSG00000172943 NM_015107 CCDS14355 X Specific XLMR gene Yes PHKA1 OTTHUMG00000022696 ENSG00000067177 NM_002637 CCDS14421 X Specific Disease gene Yes PHKA2 OTTHUMG00000021222 ENSG00000044446 NM_000292 CCDS14190 X Specific Disease gene Yes PIGA OTTHUMG00000021174 ENSG00000165195 NM_002641 CCDS14165 X Specific Disease gene Yes PIM2 OTTHUMG00000024132 ENSG00000102096 NM_006875 CCDS14312 X Specific Non disease gene Yes PIN4 OTTHUMG00000021811 ENSG00000102309 NM_006223 CCDS14417 X Specific Non disease gene Yes PIR OTTHUMG00000021176 ENSG00000087842 NM_001018109 CCDS14167 X Specific Non disease gene Yes PJA1 OTTHUMG00000021753 ENSG00000181191 NM_022368 CCDS14393 X Specific Non disease gene Yes PLAC1 OTTHUMG00000022457 ENSG00000170965 NM_021796 CCDS14642 X Specific Non disease gene Yes PLCXD1 OTTHUMG00000022693 ENSG00000182378 NM_018390 CCDS14103 PAR Non disease gene Yes PLP1 OTTHUMG00000022111 ENSG00000123560 NM_199478 CCDS14514 X Specific XLMR gene Yes PLP2 OTTHUMG00000021513 ENSG00000102007 NM_002668 CCDS14319 X Specific Non disease gene Yes PLS3 OTTHUMG00000022237 ENSG00000102024 NM_005032 CCDS14568 X Specific Non disease gene Yes PLXNA3 OTTHUMG00000033290 ENSG00000130827 NM_017514 CCDS14752 X Specific Non disease gene Yes PLXNB3 OTTHUMG00000024217 ENSG00000198753 NM_005393 CCDS14729 X Specific Non disease gene Yes PNCK OTTHUMG00000024216 ENSG00000130822 NM_001039582 CCDS35503 X Specific Non disease gene Yes PNMA3 OTTHUMG00000024195 ENSG00000183837 NM_013364 CCDS35435 X Specific Non disease gene Yes PNMA5 OTTHUMG00000024184 ENSG00000198883 NM_052926 CCDS14718 X Specific Non disease gene Yes PNMA6A OTTHUMG00000024191 ENSG00000198013 NM_032882 CCDS14719 X Specific Non disease gene No PNMA6B OTTHUMG00000024193 ENSG00000203902 XM_001127068 X Specific Non disease gene Yes PNPLA4 OTTHUMG00000021103 ENSG00000006757 NM_004650 CCDS14129 X Specific Non disease gene Yes POF1B OTTHUMG00000021934 ENSG00000124429 NM_024921 CCDS14452 X Specific Disease gene Yes POLA1 OTTHUMG00000021277 ENSG00000101868 NM_016937 CCDS14214 X Specific Non disease gene Yes PORCN OTTHUMG00000024116 ENSG00000102312 NM_203473 CCDS14297 X Specific XLMR gene Yes POU3F4 OTTHUMG00000021919 ENSG00000196767 NM_000307 CCDS14450 X Specific Disease gene Yes PPEF1 OTTHUMG00000021219 ENSG00000086717 NM_006240 CCDS14188 X Specific Non disease gene Yes PPP1R3F OTTHUMG00000024139 ENSG00000049769 NM_033215 CCDS35254 X Specific Non disease gene Yes PPP2R3B OTTHUMG00000021052 ENSG00000167393 NM_199326 CCDS14105 PAR Non disease gene Yes PQBP1 OTTHUMG00000024128 ENSG00000102103 NM_001032383 CCDS14309 X Specific XLMR gene Yes PRAF2 OTTHUMG00000034499 ENSG00000102050 NM_007213 CCDS14317 X Specific Non disease gene Yes PRDX4 OTTHUMG00000021253 ENSG00000123131 NM_006406 CCDS14206 X Specific Non disease gene Yes PRICKLE3 OTTHUMG00000024134 ENSG00000012211 NM_006150 CCDS14320 X Specific Non disease gene Yes PRKX OTTHUMG00000021087 ENSG00000183943 NM_005044 CCDS14125 X Specific Non disease gene Yes PRPS1 OTTHUMG00000022167 ENSG00000147224 NM_002764 CCDS14529 X Specific XLMR gene Yes PRPS2 OTTHUMG00000021139 ENSG00000101911 NM_001039091 CCDS14150 X Specific Non disease gene Yes PRRG1 OTTHUMG00000021360 ENSG00000130962 NM_000950 CCDS14239 X Specific Non disease gene Yes PRRG3 OTTHUMG00000024170 ENSG00000130032 NM_024082 CCDS14699 X Specific Non disease gene Yes PSMD10 OTTHUMG00000022177 ENSG00000101843 NM_170750 CCDS14536 X Specific Non disease gene Yes PTCHD1 OTTHUMG00000021251 ENSG00000165186 NM_173495 X Specific Non disease gene Yes PYY3 OTTHUMG00000021515 ENSG00000204474 NM_001109810 X Specific Non disease gene Yes Q0VGB3_HUMAN ENSG00000147223 X Specific Non disease gene Yes Q86V52_HUMAN ENSG00000178947 X Specific Non disease gene Yes RAB33A OTTHUMG00000022391 ENSG00000134594 NM_004794 CCDS14621 X Specific Non disease gene Yes RAB39B OTTHUMG00000022659 ENSG00000155961 NM_171998 CCDS14766 X Specific Non disease gene Yes RAB40A OTTHUMG00000022100 ENSG00000172476 NM_080879 CCDS35357 X Specific Non disease gene Yes RAB40AL OTTHUMG00000022084 ENSG00000102128 NM_001031834 CCDS35353 X Specific Non disease gene Yes RAB41 ENSG00000147127 X Specific Non disease gene Yes RAB9A OTTHUMG00000021156 ENSG00000123595 NM_004251 CCDS14156 X Specific Non disease gene Yes RAB9B OTTHUMG00000022112 ENSG00000123570 NM_016370 CCDS14515 X Specific Non disease gene Yes RAI2 OTTHUMG00000021209 ENSG00000131831 NM_021785 CCDS14183 X Specific Non disease gene




Yes RAP2C OTTHUMG00000022424 ENSG00000123728 NM_021183 CCDS14632 X Specific Non disease gene Yes RBBP7 OTTHUMG00000021198 ENSG00000102054 NM_002893 CCDS14179 X Specific Non disease gene Yes RBM10 OTTHUMG00000021432 ENSG00000182872 NM_005676 CCDS14274 X Specific Non disease gene Yes RBM3 OTTHUMG00000024121 ENSG00000102317 NM_006743 CCDS14301 X Specific Non disease gene Yes RBM41 OTTHUMG00000022156 ENSG00000089682 NM_018301 CCDS14526 X Specific Non disease gene Yes RBMX OTTHUMG00000022517 ENSG00000147274 NM_002139 CCDS14661 X Specific Non disease gene Yes RBMX2 OTTHUMG00000022395 ENSG00000134597 NM_016024 X Specific Non disease gene Yes RENBP OTTHUMG00000024224 ENSG00000102032 NM_002910 CCDS14738 X Specific Non disease gene Yes REPS2 OTTHUMG00000021199 ENSG00000169891 NM_001080975 X Specific Non disease gene Yes RGAG1 OTTHUMG00000022196 ENSG00000181110 NM_020769 CCDS14552 X Specific Non disease gene Yes RGAG4 OTTHUMG00000021808 NM_001024455 X Specific Non disease gene Yes RGN OTTHUMG00000021435 ENSG00000130988 NM_152869 CCDS14272 X Specific Non disease gene Yes RHGXX_HUMAN ENSG00000147256 X Specific Non disease gene Yes RIBC1 OTTHUMG00000021615 ENSG00000158423 NM_001031745 CCDS35299 X Specific Non disease gene Yes RNF113A OTTHUMG00000022283 ENSG00000125352 NM_006978 CCDS14589 X Specific Non disease gene Yes RNF12 OTTHUMG00000021859 ENSG00000131263 NM_016120 CCDS14427 X Specific Non disease gene Yes RNF128 OTTHUMG00000022151 ENSG00000133135 NM_024539 CCDS14520 X Specific Non disease gene No RP11-114H20 OTTHUMG00000021545 X Specific Non disease gene No RP11-115M6 OTTHUMG00000024241 X Specific Non disease gene No RP11-115M6 OTTHUMG00000024243 X Specific Non disease gene Yes RP11-217H1 OTTHUMG00000021882 ENSG00000102158 NM_032121 CCDS14436 X Specific Non disease gene No RP11-241O12 OTTHUMG00000022575 X Specific Non disease gene Yes RP11-262D11 OTTHUMG00000021807 ENSG00000204131 NM_001013627 CCDS35328 X Specific Non disease gene Yes RP11-274K13 OTTHUMG00000022500 ENSG00000203945 X Specific Non disease gene Yes RP11-30A20 OTTHUMG00000021154 X Specific Non disease gene Yes RP11-311P8 OTTHUMG00000021866 ENSG00000102383 NM_144969 CCDS14430 X Specific Non disease gene Yes RP11-321G1 OTTHUMG00000022153 X Specific Non disease gene Yes RP11-35F15 OTTHUMG00000022539 ENSG00000203933 NM_001013403 CCDS35411 X Specific Non disease gene No RP11-363G10 OTTHUMG00000021548 X Specific Non disease gene No RP11-493K23 OTTHUMG00000021823 X Specific Non disease gene No RP11-493K23 OTTHUMG00000021824 ENSG00000186288 NM_001012977 CCDS35334 X Specific Non disease gene No RP11-706O15 OTTHUMG00000067412 X Specific Non disease gene Yes RP1-177G6 OTTHUMG00000022548 ENSG00000203930 X Specific Non disease gene Yes RP11-87M18 OTTHUMG00000021354 ENSG00000205081 X Specific Non disease gene Yes RP11-93B10 OTTHUMG00000021696 ENSG00000186767 X Specific Non disease gene Yes RP1-19N1 OTTHUMG00000022147 X Specific Non disease gene Yes RP1-241P17 OTTHUMG00000022239 ENSG00000188612 X Specific Non disease gene Yes RP13-102H20 OTTHUMG00000022402 X Specific Non disease gene No RP1-321E8 OTTHUMG00000022308 X Specific Non disease gene No RP13-26D14 OTTHUMG00000021772 X Specific Non disease gene Yes RP13-347D8 OTTHUMG00000022264 X Specific Non disease gene No RP13-36C9 OTTHUMG00000022489 X Specific Non disease gene No RP13-36C9 OTTHUMG00000022490 X Specific Non disease gene No RP13-36C9 OTTHUMG00000022491 X Specific Non disease gene No RP13-36C9 OTTHUMG00000022495 X Specific Non disease gene No RP13-77O11 OTTHUMG00000021590 ENSG00000204363 NM_001009616 CCDS35295 X Specific Non disease gene No RP1-57A13 OTTHUMG00000022326 X Specific Non disease gene Yes RP2 OTTHUMG00000021430 ENSG00000102218 NM_006915 CCDS14270 X Specific Disease gene Yes RP3-364I1 OTTHUMG00000022193 ENSG00000133136 X Specific Non disease gene No RP3-525N14 OTTHUMG00000022292 ENSG00000131721 NM_032498 CCDS14594 X Specific Non disease gene Yes RP3-527F8 OTTHUMG00000022511 ENSG00000203941 X Specific Non disease gene Yes RP4-562J12 OTTHUMG00000022261 ENSG00000174460 NM_173798 CCDS14574 X Specific Non disease gene Yes RP4-765F13 OTTHUMG00000022415 X Specific Non disease gene No RP4-809E13 OTTHUMG00000022464 X Specific Non disease gene No RP4-809E13 OTTHUMG00000022466 X Specific Non disease gene Yes RP5-1139I1 OTTHUMG00000022270 ENSG00000077713 X Specific Non disease gene Yes RP5-1189K21 OTTHUMG00000022582 ENSG00000189252 NM_001009609 CCDS35418 X Specific Non disease gene Yes RP6-149D17 OTTHUMG00000022178 X Specific Non disease gene No RP6-166C19 OTTHUMG00000022309 ENSG00000203981 NM_173571 CCDS35382 X Specific Non disease gene No RP6-166C19 OTTHUMG00000022311 ENSG00000203975 NM_001080146 CCDS35391 X Specific Non disease gene No RP6-166C19 OTTHUMG00000022312 ENSG00000197443 NM_173571 CCDS35390 X Specific Non disease gene No RP6-166C19 OTTHUMG00000022313 ENSG00000203976 NM_173571 CCDS35389 X Specific Non disease gene No RP6-166C19 OTTHUMG00000022314 ENSG00000203977 NM_173571 CCDS35388 X Specific Non disease gene No RP6-166C19 OTTHUMG00000022315 ENSG00000203978 NM_173571 CCDS35387 X Specific Non disease gene No RP6-166C19 OTTHUMG00000022316 ENSG00000213499 NM_001080146 CCDS35386 X Specific Non disease gene No RP6-166C19 OTTHUMG00000022317 ENSG00000203979 NM_173571 CCDS35385 X Specific Non disease gene No RP6-166C19 OTTHUMG00000022318 ENSG00000213504 NM_173571 CCDS35384 X Specific Non disease gene No RP6-166C19 OTTHUMG00000022319 ENSG00000213503 NM_173571 CCDS35383 X Specific Non disease gene Yes RP6-213H19 OTTHUMG00000022420 ENSG00000134602 NM_016542 CCDS14631 X Specific Non disease gene Yes RPA4 OTTHUMG00000021987 ENSG00000204086 NM_013347 CCDS35345 X Specific Non disease gene




Yes RPGR OTTHUMG00000021361 ENSG00000156313 NM_000328 CCDS14246 X Specific Disease gene Yes RPL10 OTTHUMG00000033189 ENSG00000147403 NM_006013 CCDS14746 X Specific XLMR gene Yes RPL36A OTTHUMG00000022027 ENSG00000102391 NM_021029 CCDS14483 X Specific Non disease gene Yes RPL39 OTTHUMG00000022278 ENSG00000198918 NM_001000 CCDS14586 X Specific Non disease gene Yes RPL9P7 OTTHUMT00000056054 ENSG00000182754 X Specific Non disease gene Yes RPS26L1 OTTHUMG00000021806 ENSG00000196933 NR_002309 X Specific Non disease gene Yes RPS4X OTTHUMG00000021813 ENSG00000198034 NM_001007 CCDS14418 X Specific Non disease gene Yes RPS6KA3 OTTHUMG00000021231 ENSG00000177189 NM_004586 CCDS14197 X Specific XLMR gene Yes RPS6KA6 OTTHUMG00000021923 ENSG00000072133 NM_014496 CCDS14451 X Specific Non disease gene Yes RRAGB OTTHUMG00000021662 ENSG00000083750 NM_016656 CCDS14371 X Specific Non disease gene Yes RS1 OTTHUMG00000021216 ENSG00000102104 NM_000330 CCDS14187 X Specific Disease gene Yes S100G OTTHUMG00000021194 ENSG00000169906 NM_004057 CCDS14176 X Specific Non disease gene Yes SAGE1 OTTHUMG00000022496 ENSG00000181433 NM_018666 CCDS14652 X Specific Non disease gene Yes SAT1 OTTHUMG00000021256 ENSG00000130066 NM_002970 CCDS14207 X Specific Disease gene Yes SATL1 OTTHUMG00000021931 ENSG00000184788 NM_001012980 CCDS35343 X Specific Non disease gene Yes SCML1 OTTHUMG00000021206 ENSG00000047634 NM_001037540 CCDS35211 X Specific Non disease gene Yes SCML2 OTTHUMG00000021212 ENSG00000102098 NM_006089 CCDS14185 X Specific Non disease gene Yes SEPT6 OTTHUMG00000022280 ENSG00000125354 X Specific Non disease gene Yes SERPINA7 OTTHUMG00000022144 ENSG00000123561 NM_000354 CCDS14518 X Specific Disease gene Yes SH2D1A OTTHUMG00000022344 ENSG00000183918 NM_002351 CCDS14608 X Specific Disease gene Yes SH3BGRL OTTHUMG00000021910 ENSG00000131171 NM_003022 CCDS14449 X Specific Non disease gene Yes SH3KBP1 OTTHUMG00000021227 ENSG00000147010 NM_031892 CCDS35213 X Specific Non disease gene Yes SHOX OTTHUMG00000021053 ENSG00000185960 NM_006883 CCDS14107 PAR Disease gene Yes SHROOM2 OTTHUMG00000021121 ENSG00000146950 NM_001649 CCDS14135 X Specific Non disease gene Yes SHROOM4 OTTHUMG00000021521 ENSG00000158352 NM_020717 CCDS35277 X Specific XLMR gene Yes SIAH1L OTTHUMG00000021347 ENSG00000188216 X Specific Non disease gene Yes SLC10A3 OTTHUMG00000013369 ENSG00000126903 NM_019848 CCDS14755 X Specific Non disease gene Yes SLC16A2 OTTHUMG00000021857 ENSG00000147100 NM_006517 CCDS14426 X Specific XLMR gene Yes SLC25A14 OTTHUMG00000022394 ENSG00000102078 NM_003951 CCDS14623 X Specific Non disease gene Yes SLC25A43 OTTHUMG00000022272 ENSG00000077713 NM_145305 CCDS14577 X Specific Non disease gene Yes SLC25A5 OTTHUMG00000022715 ENSG00000005022 NM_001152 CCDS14578 X Specific Non disease gene Yes SLC25A6 OTTHUMG00000021058 ENSG00000169100 NM_001636 CCDS14114 PAR Non disease gene Yes SLC35A2 OTTHUMG00000024129 ENSG00000102100 NM_005660 CCDS14311 X Specific Non disease gene Yes SLC38A5 OTTHUMG00000024117 ENSG00000017483 NM_033518 CCDS14293 X Specific Non disease gene Yes SLC6A14 OTTHUMG00000022245 ENSG00000087916 NM_007231 CCDS14570 X Specific Non disease gene Yes SLC6A8 OTTHUMG00000024208 ENSG00000130821 NM_005629 CCDS14726 X Specific XLMR gene Yes SLC7A3 OTTHUMG00000021780 ENSG00000165349 NM_032803 CCDS14404 X Specific Non disease gene Yes SLC9A6 OTTHUMG00000022498 ENSG00000198689 NM_001042537 CCDS14654 X Specific XLMR gene Yes SLC9A7 OTTHUMG00000021428 ENSG00000065923 NM_032591 CCDS14269 X Specific Non disease gene Yes SLITRK2 OTTHUMG00000022595 ENSG00000185985 NM_032539 CCDS14680 X Specific Non disease gene Yes SMARCA1 OTTHUMG00000022370 ENSG00000102038 NM_003069 CCDS14612 X Specific Non disease gene Yes SMC1A OTTHUMG00000021614 ENSG00000072501 NM_006306 CCDS14352 X Specific XLMR gene Yes SMPX OTTHUMG00000021235 ENSG00000091482 NM_014332 CCDS14200 X Specific Non disease gene Yes SMS OTTHUMG00000021239 ENSG00000102172 NM_004595 CCDS14203 X Specific XLMR gene Yes SNX12 OTTHUMG00000021786 ENSG00000147164 NM_013346 CCDS14405 X Specific Non disease gene Yes SOX3 OTTHUMG00000022544 ENSG00000134595 NM_005634 CCDS14669 X Specific XLMR gene No SPACA5 OTTHUMG00000021459 ENSG00000171489 NM_205856 CCDS14286 X Specific Non disease gene No SPACA5B OTTHUMG00000021465 ENSG00000171489 NM_001079900 CCDS35238 X Specific Non disease gene No SPANXA1 OTTHUMG00000022564 ENSG00000198021 NM_013453 CCDS14674 X Specific Non disease gene No SPANXA2 OTTHUMG00000022565 ENSG00000198021 NM_145662 CCDS14674 X Specific Non disease gene No SPANXB1 OTTHUMG00000022553 ENSG00000198820 NM_032461 CCDS14671 X Specific Non disease gene No SPANXB2 OTTHUMG00000022554 ENSG00000198820 NM_032461 CCDS14671 X Specific Non disease gene Yes SPANXC OTTHUMG00000022556 ENSG00000198573 NM_022661 CCDS14673 X Specific Non disease gene No SPANXD OTTHUMG00000022563 ENSG00000196406 NM_032417 CCDS14675 X Specific Non disease gene Yes SPANXN1 OTTHUMG00000022593 ENSG00000203923 NM_001009614 CCDS35421 X Specific Non disease gene Yes SPANXN2 OTTHUMG00000022583 ENSG00000203924 NM_001009615 CCDS35419 X Specific Non disease gene Yes SPANXN4 ENSG00000189326 X Specific Non disease gene Yes SPIN2A OTTHUMG00000022705 ENSG00000147059 NM_019003 CCDS35312 X Specific Non disease gene No SPIN2B OTTHUMG00000021680 ENSG00000186787 NM_001006683 CCDS35311 X Specific Non disease gene Yes SPIN3 OTTHUMG00000021677 ENSG00000204271 NM_001010862 X Specific Non disease gene No SPRY3 OTTHUMG00000022675 ENSG00000168939 NM_005840 CCDS14769 PAR Non disease gene Yes SRPK3 OTTHUMG00000024207 ENSG00000184343 NM_014370 CCDS35441 X Specific Non disease gene Yes SRPX OTTHUMG00000021362 ENSG00000101955 NM_006307 CCDS14245 X Specific Non disease gene Yes SRPX2 OTTHUMG00000022003 ENSG00000102359 NM_014467 CCDS14471 X Specific XLMR gene Yes SSR4 OTTHUMG00000024212 ENSG00000180879 NM_006280 CCDS14731 X Specific Non disease gene Yes SSX1 OTTHUMG00000021488 ENSG00000126752 NM_005635 CCDS14290 X Specific Non disease gene No SSX2 OTTHUMG00000022697 ENSG00000157950 NM_175698 CCDS14344 X Specific Non disease gene No SSX2B OTTHUMG00000021593 XM_001125936 X Specific Non disease gene Yes SSX3 OTTHUMG00000021489 ENSG00000165584 NM_021014 CCDS14291 X Specific Non disease gene No SSX4 OTTHUMG00000022698 ENSG00000204645 NM_001040612 CCDS35240 X Specific Non disease gene




No SSX4B OTTHUMG00000021497 ENSG00000204645 NM_001040612 CCDS35241 X Specific Non disease gene Yes SSX5 OTTHUMG00000021471 ENSG00000165583 NM_021015 CCDS14289 X Specific Non disease gene Yes SSX6 OTTHUMG00000021464 ENSG00000171483 NM_173357 CCDS14287 X Specific Non disease gene No SSX7 OTTHUMG00000021572 ENSG00000204368 NM_173358 CCDS14343 X Specific Non disease gene No SSX9 OTTHUMG00000021490 ENSG00000204648 NM_174962 X Specific Non disease gene Yes STAG2 OTTHUMG00000022725 ENSG00000101972 NM_001042751 CCDS14607 X Specific Non disease gene Yes STARD8 OTTHUMG00000021748 ENSG00000130052 NM_014725 CCDS14390 X Specific Non disease gene Yes STS OTTHUMG00000021102 ENSG00000101846 NM_000351 CCDS14127 X Specific Disease gene Yes SUV39H1 OTTHUMG00000022701 ENSG00000101945 NM_003173 CCDS14304 X Specific Non disease gene Yes SYAP1 OTTHUMG00000021192 ENSG00000169895 NM_032796 CCDS14177 X Specific Non disease gene Yes SYBL1 OTTHUMG00000022679 ENSG00000124333 CCDS14770 PAR Non disease gene Yes SYN1 OTTHUMG00000021454 ENSG00000008056 NM_006950 CCDS14280 X Specific XLMR gene Yes SYP OTTHUMG00000034557 ENSG00000102003 NM_003179 CCDS14321 X Specific Non disease gene Yes SYTL4 OTTHUMG00000022004 ENSG00000102362 NM_080737 CCDS14472 X Specific Non disease gene Yes SYTL5 OTTHUMG00000033176 ENSG00000147041 NM_138780 CCDS14244 X Specific Non disease gene Yes TAF1 OTTHUMG00000022723 ENSG00000147133 NM_004606 CCDS35325 X Specific Disease gene Yes TAF7L OTTHUMG00000022021 ENSG00000102387 NM_024885 CCDS35347 X Specific Non disease gene Yes TAF9B OTTHUMG00000021887 ENSG00000187325 NM_015975 CCDS35340 X Specific Non disease gene Yes TAZ OTTHUMG00000033190 ENSG00000102125 NM_000116 CCDS14748 X Specific Disease gene Yes TBC1D25 OTTHUMG00000024123 ENSG00000068354 NM_002536 CCDS35242 X Specific Non disease gene Yes TBC1D8B OTTHUMG00000022152 ENSG00000133138 NM_198881 CCDS14523 X Specific Non disease gene Yes TBL1X OTTHUMG00000021117 ENSG00000101849 NM_005647 CCDS14133 X Specific Non disease gene Yes TBX22 OTTHUMG00000021901 ENSG00000122145 NM_001109879 CCDS14445 X Specific Disease gene Yes TCEAL1 OTTHUMG00000022699 ENSG00000172465 NM_001006640 CCDS35358 X Specific Non disease gene Yes TCEAL2 OTTHUMG00000022048 ENSG00000184905 NM_080390 CCDS14496 X Specific Non disease gene Yes TCEAL3 OTTHUMG00000022106 ENSG00000196507 NM_032926 CCDS14511 X Specific Non disease gene Yes TCEAL4 OTTHUMG00000022103 ENSG00000133142 NM_024863 CCDS14510 X Specific Non disease gene Yes TCEAL5 OTTHUMG00000022092 ENSG00000204065 NM_001012979 CCDS35356 X Specific Non disease gene No TCEAL6 OTTHUMG00000022050 ENSG00000204071 NM_001006938 X Specific Non disease gene Yes TCEAL7 OTTHUMG00000022096 ENSG00000182916 NM_152278 CCDS14506 X Specific Non disease gene Yes TCEAL8 OTTHUMG00000022094 ENSG00000180964 NM_153333 CCDS14504 X Specific Non disease gene Yes TEX11 OTTHUMG00000021782 ENSG00000120498 NM_031276 CCDS35323 X Specific Non disease gene Yes TEX13A OTTHUMG00000022133 ENSG00000133149 NM_031274 X Specific Non disease gene Yes TEX13B OTTHUMG00000022174 ENSG00000170925 NM_031273 CCDS14534 X Specific Non disease gene No TEX28 OTTHUMG00000022654 ENSG00000102080 NM_001586 CCDS14744 X Specific Non disease gene No TEX28P2 OTTHUMG00000022713 ENSG00000185254 XM_927078 CCDS14744 X Specific Non disease gene Yes TFDP3 OTTHUMG00000022433 ENSG00000183434 NM_016521 X Specific Non disease gene Yes TFE3 OTTHUMG00000022690 ENSG00000068323 NM_006521 CCDS14315 X Specific Non disease gene No TGIF2LX OTTHUMG00000021954 ENSG00000153779 NM_138960 CCDS14459 X Specific Non disease gene Yes THOC2 OTTHUMG00000022334 ENSG00000125676 NM_020449 X Specific Non disease gene Yes TIMM17B OTTHUMG00000034498 ENSG00000126768 NM_005834 CCDS14308 X Specific Non disease gene Yes TIMM8A OTTHUMG00000022028 ENSG00000126953 NM_004085 CCDS14481 X Specific XLMR gene Yes TIMP1 OTTHUMG00000021447 ENSG00000102265 NM_003254 CCDS14281 X Specific Non disease gene Yes TKTL1 OTTHUMG00000022707 ENSG00000007350 NM_012253 CCDS35448 X Specific Non disease gene Yes TLR7 OTTHUMG00000021137 ENSG00000196664 NM_016562 CCDS14151 X Specific Non disease gene Yes TLR8 OTTHUMG00000021145 ENSG00000101916 NM_138636 CCDS14152 X Specific Non disease gene Yes TMEM164 OTTHUMG00000022192 ENSG00000157600 NM_032227 CCDS14550 X Specific Non disease gene Yes TMEM185A OTTHUMG00000022625 ENSG00000155984 NM_032508 CCDS14689 X Specific Non disease gene No TMEM185AL OTTHUMG00000022629 X Specific Non disease gene Yes TMEM187 OTTHUMG00000024220 ENSG00000177854 NM_003492 CCDS14739 X Specific Non disease gene Yes TMEM27 OTTHUMG00000021181 ENSG00000147003 NM_020665 CCDS14170 X Specific Non disease gene Yes TMEM28 OTTHUMG00000021756 ENSG00000130054 NM_015686 CCDS35317 X Specific Non disease gene No TMEM29 OTTHUMG00000021595 ENSG00000182646 NM_014138 CCDS35297 X Specific Non disease gene Yes TMEM31 OTTHUMG00000022109 ENSG00000179363 NM_182541 CCDS35359 X Specific Non disease gene Yes TMEM32 OTTHUMG00000022499 ENSG00000169446 NM_173470 CCDS14653 X Specific Non disease gene Yes TMEM35 OTTHUMG00000022016 ENSG00000126950 NM_021637 CCDS14478 X Specific Non disease gene Yes TMEM47 OTTHUMG00000021343 ENSG00000147027 NM_031442 CCDS14235 X Specific Non disease gene Yes TMLHE OTTHUMG00000022674 ENSG00000185973 NM_018196 CCDS14768 X Specific Non disease gene No TMSB4X OTTHUMG00000021144 ENSG00000205542 NM_021109 CCDS35202 X Specific Non disease gene Yes TMSL8 OTTHUMG00000022054 ENSG00000158427 NM_021992 CCDS14498 X Specific Non disease gene Yes TNMD OTTHUMG00000022001 ENSG00000000005 NM_022144 CCDS14469 X Specific Non disease gene Yes TRAPPC2 OTTHUMG00000021157 ENSG00000196459 NM_014563 X Specific Disease gene Yes TRO OTTHUMG00000021640 ENSG00000067445 NM_016157 X Specific Non disease gene Yes TRPC5 OTTHUMG00000022212 ENSG00000072315 NM_012471 CCDS14561 X Specific Non disease gene Yes TSC22D3 OTTHUMG00000022168 ENSG00000157514 NM_004089 CCDS14530 X Specific Non disease gene Yes TSPAN6 OTTHUMG00000022002 ENSG00000000003 NM_003270 CCDS14470 X Specific Non disease gene Yes TSPAN7 OTTHUMG00000024090 ENSG00000156298 NM_004615 CCDS14248 X Specific XLMR gene Yes TSPYL2 OTTHUMG00000021597 ENSG00000184205 NM_022117 CCDS14350 X Specific Non disease gene Yes TSR2 OTTHUMG00000021628 ENSG00000158526 NM_058163 CCDS14358 X Specific Non disease gene Yes U52112 OTTHUMT00000129563 X Specific Non disease gene




No U82695 OTTHUMG00000024203 X Specific Non disease gene Yes UBE1 OTTHUMG00000021436 ENSG00000130985 CCDS14275 X Specific Non disease gene Yes UBE2A OTTHUMG00000022275 ENSG00000077721 NM_003336 CCDS14580 X Specific XLMR gene Yes UBE2NL OTTHUMG00000022586 ENSG00000102069 NM_001012989 CCDS35420 X Specific Non disease gene Yes UBL4A OTTHUMG00000013370 ENSG00000102178 NM_014235 CCDS14754 X Specific Non disease gene Yes UBQLN2 OTTHUMG00000021669 ENSG00000188021 NM_013444 CCDS14374 X Specific Non disease gene Yes UCHL5IP OTTHUMG00000024204 ENSG00000213397 NM_207107 CCDS35439 X Specific Non disease gene Yes UPF3B OTTHUMG00000022282 ENSG00000125351 NM_080632 CCDS14588 X Specific XLMR gene Yes UPRT OTTHUMG00000021864 ENSG00000094841 NM_145052 CCDS14429 X Specific Non disease gene Yes USMG5P1 OTTHUMG00000021847 ENSG00000204114 X Specific Non disease gene Yes USP11 OTTHUMG00000021437 ENSG00000102226 NM_004651 CCDS14277 X Specific Non disease gene Yes USP26 OTTHUMG00000022429 ENSG00000134588 NM_031907 CCDS14635 X Specific Disease gene Yes USP51 ENSG00000185295 CCDS14370 X Specific Non disease gene Yes USP9X OTTHUMG00000021367 ENSG00000124486 NM_001039590 X Specific Non disease gene No UTP14A OTTHUMG00000022378 ENSG00000156697 NM_006649 CCDS14615 X Specific Non disease gene Yes UTX OTTHUMG00000021402 ENSG00000147050 NM_021140 CCDS14265 X Specific Non disease gene Yes UXT OTTHUMG00000021453 ENSG00000126756 NM_153477 CCDS14284 X Specific Non disease gene Yes VBP1 OTTHUMG00000022666 ENSG00000155959 NM_003372 CCDS14765 X Specific Non disease gene Yes VCX OTTHUMG00000028608 ENSG00000182583 NM_013452 CCDS14128 X Specific Non disease gene No VCX2 OTTHUMG00000021105 ENSG00000177504 NM_016378 CCDS35200 X Specific Non disease gene Yes VCX3A OTTHUMG00000021097 ENSG00000169059 NM_016379 CCDS35199 X Specific Non disease gene No VCX3B OTTHUMG00000021106 ENSG00000205642 NM_001001888 X Specific Non disease gene Yes VGLL1 OTTHUMG00000022509 ENSG00000102243 NM_016267 CCDS14658 X Specific Non disease gene Yes VSIG1 OTTHUMG00000022175 ENSG00000101842 NM_182607 CCDS14535 X Specific Non disease gene Yes VSIG4 OTTHUMG00000021727 ENSG00000155659 NM_007268 CCDS14383 X Specific Non disease gene Yes WAS OTTHUMG00000034483 ENSG00000015285 NM_000377 CCDS14303 X Specific Disease gene Yes WBP5 OTTHUMG00000022097 ENSG00000185222 NM_016303 CCDS14507 X Specific Non disease gene Yes WDR13 OTTHUMG00000024119 ENSG00000101940 NM_017883 CCDS14302 X Specific Non disease gene Yes WDR40B OTTHUMG00000022353 ENSG00000198889 NM_178470 CCDS14610 X Specific Non disease gene Yes WDR40C OTTHUMG00000022348 ENSG00000198354 NM_001013628 X Specific Non disease gene Yes WDR42B OTTHUMG00000021312 ENSG00000189186 NM_001017930 CCDS35222 X Specific Non disease gene Yes WDR44 OTTHUMG00000022254 ENSG00000131725 NM_019045 CCDS14572 X Specific Non disease gene Yes WDR45 OTTHUMG00000034500 ENSG00000196998 NM_007075 CCDS14318 X Specific Non disease gene Yes WNK3 OTTHUMG00000021626 ENSG00000196632 NM_020922 CCDS14357 X Specific Non disease gene Yes WWC3 OTTHUMG00000021123 ENSG00000047644 NM_015691 CCDS14136 X Specific Non disease gene No XAGE1 OTTHUMG00000021551 ENSG00000204376 NM_001097592 X Specific Non disease gene No XAGE1B OTTHUMG00000021557 ENSG00000204376 NM_001097594 X Specific Non disease gene No XAGE1C OTTHUMG00000021566 ENSG00000204376 NM_001097597 X Specific Non disease gene No XAGE1D OTTHUMG00000021568 ENSG00000204376 NM_020411 X Specific Non disease gene No XAGE1E OTTHUMG00000021569 ENSG00000204379 NM_001097604 X Specific Non disease gene No XAGE2 OTTHUMG00000021549 ENSG00000155622 NM_001079538 X Specific Non disease gene No XAGE2B OTTHUMG00000021563 ENSG00000185751 NM_130777 CCDS35288 X Specific Non disease gene Yes XAGE3 OTTHUMG00000021587 ENSG00000171402 NM_133179 CCDS14347 X Specific Non disease gene No XAGE-4 OTTHUMG00000021659 ENSG00000169164 X Specific Non disease gene Yes XAGE5 OTTHUMG00000021589 ENSG00000171405 NM_130775 CCDS14346 X Specific Non disease gene Yes XG OTTHUMG00000021075 ENSG00000124343 NM_175569 CCDS14120 X Specific Non disease gene Yes XK OTTHUMG00000033171 ENSG00000047597 NM_021083 CCDS14241 X Specific Disease gene Yes XKRX OTTHUMG00000022010 ENSG00000182489 NM_212559 CCDS14476 X Specific Non disease gene Yes XPNPEP2 OTTHUMG00000022373 ENSG00000122121 NM_003399 CCDS14613 X Specific Disease gene No XX-FW88277B6 OTTHUMG00000022488 X Specific Non disease gene Yes YIPF6 OTTHUMG00000021745 ENSG00000181704 NM_173834 CCDS14389 X Specific Non disease gene Yes YY2 OTTHUMG00000021236 ENSG00000198767 NM_206923 CCDS14202 X Specific Non disease gene Yes ZBED1 OTTHUMG00000021069 ENSG00000214717 NM_004729 CCDS14118 PAR Non disease gene Yes ZBTB33 OTTHUMG00000022296 ENSG00000177485 NM_006777 CCDS14596 X Specific Non disease gene Yes ZC3H12B OTTHUMG00000021719 ENSG00000102053 NM_001010888 X Specific Non disease gene Yes ZCCHC13 OTTHUMG00000021851 ENSG00000187969 NM_203303 CCDS14425 X Specific Non disease gene Yes ZCCHC5 OTTHUMG00000021892 ENSG00000179300 NM_152694 CCDS14440 X Specific Non disease gene Yes ZDHHC9 OTTHUMG00000022375 ENSG00000188706 NM_001008222 CCDS35395 X Specific XLMR gene Yes ZFX OTTHUMG00000021264 ENSG00000005889 NM_003410 CCDS14211 X Specific Non disease gene Yes ZIC3 OTTHUMG00000022525 ENSG00000156925 NM_003413 CCDS14663 X Specific Disease gene Yes ZMAT1 OTTHUMG00000022044 ENSG00000166432 NM_001011657 CCDS35348 X Specific Non disease gene Yes ZMYM3 OTTHUMG00000021799 ENSG00000147130 NM_005096 CCDS14409 X Specific Non disease gene Yes ZNF157 OTTHUMG00000021443 ENSG00000147117 NM_003446 CCDS14278 X Specific Non disease gene Yes ZNF182 OTTHUMG00000021460 ENSG00000147118 NM_001007088 CCDS35236 X Specific Non disease gene Yes ZNF185 OTTHUMG00000024187 ENSG00000147394 NM_007150 X Specific Non disease gene Yes ZNF275 OTTHUMG00000067450 ENSG00000063587 NM_001080485 X Specific Non disease gene Yes ZNF280C OTTHUMG00000022393 ENSG00000056277 NM_017666 CCDS14622 X Specific Non disease gene Yes ZNF41 OTTHUMG00000021448 ENSG00000147124 NM_007130 CCDS14279 X Specific XLMR gene Yes ZNF449 OTTHUMG00000022478 ENSG00000173275 NM_152695 CCDS14649 X Specific Non disease gene Yes ZNF630 OTTHUMG00000021463 ENSG00000147118 NM_001007088 CCDS35237 X Specific Non disease gene




Yes ZNF645 OTTHUMG00000021242 ENSG00000175809 NM_152577 CCDS14205 X Specific Non disease gene Yes ZNF673 OTTHUMG00000021421 ENSG00000147121 NM_017776 CCDS14267 X Specific Non disease gene Yes ZNF711 OTTHUMG00000021933 ENSG00000147180 NM_021998 CCDS35344 X Specific Non disease gene Yes ZNF75 OTTHUMG00000022482 ENSG00000186376 NM_007131 CCDS14648 X Specific Non disease gene Yes ZNF81 OTTHUMG00000021462 ENSG00000197779 NM_007137 X Specific XLMR gene Yes ZRSR2 OTTHUMG00000021184 ENSG00000169249 NM_005089 CCDS14172 X Specific Non disease gene Yes ZXDA OTTHUMG00000021688 ENSG00000198205 NM_007156 CCDS14376 X Specific Non disease gene Yes ZXDB OTTHUMG00000021685 ENSG00000198455 NM_007157 CCDS35313 X Specific Non disease gene


Supplementary Table 2: Variants indentified in the follow up screen of XLMR cases and normal controls

Mutation Class Gene Mutation Frequency in Samples

Frequency in Controls

Ins/Del (out of frame) ARSF c.222_234delCGCCTCCCTCTGC p.S76fs*7 1 Ins/Del (out of frame) ARSF c.363delT p.A122fs*4 1 Missense Substitution ARSF c.1309G>C p.V437L 4 3 Missense Substitution ARSF c.1579C>T p.H527Y 38 57 Missense Substitution ARSF c.244C>T p.R82W 1 Missense Substitution ARSF c.251C>T p.A84V 1 Missense Substitution ARSF c.535C>T p.R179C 5 7 Missense Substitution ARSF c.598A>G p.I200V 34 32 Missense Substitution ARSF c.772A>G p.M258V 1 1 Missense Substitution ARSF c.1004G>A p.R335K 2 Missense Substitution ARSF c.164C>T p.T55M 1 Missense Substitution ARSF c.249C>T p.S83S 1 Nonsense Substitution ARSF c.784C>T p.R262* 2

Silent Substitution ARSF c.1308C>T p.N436N 1 Silent Substitution ARSF c.1357C>T p.L453L 56 42 Silent Substitution ARSF c.1386C>T p.D462D 57 48 Silent Substitution ARSF c.1602G>A p.V534V 37 39 Silent Substitution ARSF c.18C>G p.P6P 10 7 Silent Substitution ARSF c.252G>A p.A84A 6 3 Silent Substitution ARSF c.327A>C p.A109A 1 Silent Substitution ARSF c.1038C>T p.H346H 1

Splice Site ARSF IVS 8+5 G>A 1 3 Ins/Del (out of frame) SYP c.829_832delGACT p.D277fs*59 1 Missense Substitution SYP c.473C>T p.S158L 1 Missense Substitution SYP c.496G>A p.D166N 1 Missense Substitution SYP c.5T>A p.L2Q 1 Missense Substitution SYP c.831C>A p.D277E 1 Missense Substitution SYP c.649G>C p.G217R 1 Missense Substitution SYP c.877G>A p.G293S 1 Missense Substitution SYP c.742G>A p.D248N 1 Nonsense Substitution SYP c.177_178CA>GT p.N59_K60>K* 1

Silent Substitution SYP c.108C>T p.F36F 1 Silent Substitution SYP c.438G>A p.T146T 1 Silent Substitution SYP c.444G>C p.V148V 1 Silent Substitution SYP c.474G>A p.S158S 2 Silent Substitution SYP c.498T>C p.D166D 1 Silent Substitution SYP c.585C>T p.D195D 1 Silent Substitution SYP c.687C>T p.A229A 1 Silent Substitution SYP c.612G>A p.S204S 1

3'UTR SYP IVS 6 +1 T>C 1 Ins/Del (in frame) USP9X c.2841_2846delCTTAAA p.N947_K949>K 1

Missense Substitution USP9X c.5644G>T p.G1882C 1 Missense Substitution USP9X c.3052G>A p.A1018T 1 Missense Substitution USP9X c.5648G>A p.G1883E 1 Missense Substitution USP9X c.6031A>C p.T2011P 1 Missense Substitution USP9X c.6133C>T p.L2045F 1 Missense Substitution USP9X c.6257T>A p.L2086H 1 Missense Substitution USP9X c.6448C>A p.L2150I 1

Silent Substitution USP9X c.1074A>G p.V358V 1 Silent Substitution USP9X c.1086T>C p.T362T 1 Silent Substitution USP9X c.1092A>G p.R364R 1 Silent Substitution USP9X c.1983T>A p.G661G 3 1


Supplementary Table 2: Variants indentified in the follow up screen of XLMR cases and normal controls

Mutation Class Gene Mutation Frequency in Samples

Frequency in Controls

Silent Substitution USP9X c.3123G>T p.P1041P 1 Silent Substitution USP9X c.4062G>A p.L1354L 3 Silent Substitution USP9X c.4596T>A p.L1532L 1 Silent Substitution USP9X c.4599T>A p.T1533T 1 1 Silent Substitution USP9X c.4914A>G p.R1638R 1 Silent Substitution USP9X c.5697A>G p.T1899T 1 Silent Substitution USP9X c.5745T>C p.G1915G 1 Silent Substitution USP9X c.5935G>A p.A1979T 1 Silent Substitution USP9X c.6063C>T p.P2021P 1 Silent Substitution USP9X c.6084T>C p.P2028P 1 Silent Substitution USP9X c.6324G>A p.A2108A 1 Silent Substitution USP9X c.7449G>A p.S2483S 2 1 Silent Substitution USP9X c.81C>G p.P27P 1

Missense Substitution VSIG4 c.1148C>T p.T383I 3 6 Missense Substitution VSIG4 c.158T>C p.L53S 1 Missense Substitution VSIG4 c.274G>T p.V92F 3 9 Missense Substitution VSIG4 c.322C>T p.R108W 2 Missense Substitution VSIG4 c.58C>T p.R20C 1 Missense Substitution VSIG4 c.793A>T p.T265S 3 Missense Substitution VSIG4 c.815G>A p.G272E 1 Missense Substitution VSIG4 c.836G>A p.G279E 24 11 Missense Substitution VSIG4 c.989C>T p.S330F 1 Missense Substitution VSIG4 c.1038T>G p.D346E 1 Missense Substitution VSIG4 c.590T>A p.L197H 1 Missense Substitution VSIG4 c.323G>A p.R108Q 1 Missense Substitution VSIG4 c.670G>A p.D224N 1 Missense Substitution VSIG4 c.908A>G p.Y303C 2 Nonsense Substitution VSIG4 c.973A>T p.R325* 1

Silent Substitution VSIG4 c.345C>A p.V115V 1 1 Silent Substitution VSIG4 c.612C>T p.A204A 1 Silent Substitution VSIG4 c.603G>A p.A201A 1 1

Ins/Del (out of frame) ZNF183 c.495delC p.K166fs*13 1 Missense Substitution ZNF183 c.285T>A p.S95R 1 1 Missense Substitution ZNF183 c.316G>A p.A106T 1 Missense Substitution ZNF183 c.442G>C p.E148Q 1 Missense Substitution ZNF183 c.74A>G p.K25R 1 Missense Substitution ZNF183 c.763G>A p.D255N 2 Missense Substitution ZNF183 c.1006G>A p.D336N 9 5 Missense Substitution ZNF183 c.725G>A p.G242D 1

Silent Substitution ZNF183 c.177G>A p.K59K 1 Silent Substitution ZNF183 c.264A>G p.E88E 1 Silent Substitution ZNF183 c.348G>A p.A116A 1

Missense Substitution ZNF711 c.1601T>C p.M534T 1 Missense Substitution ZNF711 c.1896G>T p.E632D 1 Missense Substitution ZNF711 c.356G>A p.G119E 1 Missense Substitution ZNF711 c.601A>G p.T201A 1 Missense Substitution ZNF711 c.761A>G p.H254R 1 Missense Substitution ZNF711 c.1832A>G p.N611S 1 Nonsense Substitution ZNF711 c.1573C>T p.R525* 1

Silent Substitution ZNF711 c.1998A>G p.T666T 2 1 Silent Substitution ZNF711 c.408A>G p.T136T 1 Silent Substitution ZNF711 c.738A>G p.T246T 8 3


Supplementary Table 3: Sequence variants identified in this screen

Number Mutation Class Gene Name Mutation Frequency Recurrent / Non-recurrent

Region of X Chromosome Gene Class

1 Missense Substitution ABCB7 c.941G>A p.R314Q 1 Nonrecurrent X Specific Disease gene2 Silent Substitution ABCB7 c.1323T>C p.D441D 1 Nonrecurrent X Specific Disease genep p g3 Silent Substitution ABCD1 c.1548G>A p.L516L 35 Recurrent X Specific XLMR gene4 Missense Substitution ACE2 c.1514A>G p.H505R 1 Nonrecurrent X Specific Non Disease gene5 Missense Substitution ACE2 c.77A>G p.K26R 1 Nonrecurrent X Specific Non Disease gene6 Missense Substitution ACE2 c.2158A>G p.N720D 6 Recurrent X Specific Non Disease gene7 Missense Substitution ACE2 c.149A>T p.Y50F 1 Nonrecurrent X Specific Non Disease gene8 Missense Substitution ACE2 c.631G>A p.G211R 1 Nonrecurrent X Specific Non Disease gene9 Silent Substitution ACE2 c.2247G>A p.V749V 12 Recurrent X Specific Non Disease gene10 Missense Substitution ACOT9 c.1037A>G p.Q346R 1 Nonrecurrent X Specific Non Disease gene11 Missense Substitution ACOT9 c.1196A>G p.K399R 1 Nonrecurrent X Specific Non Disease gene12 Missense Substitution ACOT9 c 907G>C p E303Q 5 Recurrent X Specific Non Disease gene12 Missense Substitution ACOT9 c.907G>C p.E303Q 5 Recurrent X Specific Non Disease gene13 Missense Substitution ACOT9 c.566A>G p.H189R 1 Nonrecurrent X Specific Non Disease gene14 Silent Substitution ACOT9 c.1207T>C p.L403L 36 Recurrent X Specific Non Disease gene15 Missense Substitution ACSL4 c.1382C>T p.P461L 1 Nonrecurrent X Specific XLMR gene16 Missense Substitution ACTRT1 c.529G>A p.A177T 7 Recurrent X Specific Non Disease gene17 Silent Substitution ACTRT1 c.954G>T p.V318V 1 Nonrecurrent X Specific Non Disease gene18 Missense Substitution AFF2 c.1834C>G p.H612D 1 Nonrecurrent X Specific XLMR gene19 Missense Substitution AFF2 c.2656C>G p.P886A 1 Nonrecurrent X Specific XLMR gene20 Silent Substitution AFF2 c.1488G>A p.S496S 7 Recurrent X Specific XLMR gene21 Missense Substitution AGTR2 c.62G>T p.G21V 1 Nonrecurrent X Specific XLMR genep p g22 Silent Substitution AIFM1 c.801G>A p.L267L 1 Nonrecurrent X Specific Non Disease gene23 Silent Substitution AIFM1 c.273T>C p.D91D 88 Recurrent X Specific Non Disease gene24 Silent Substitution AIFM1 c.789G>A p.L263L 1 Nonrecurrent X Specific Non Disease gene25 Silent Substitution AIFM1 c.261T>C p.D87D 80 Recurrent X Specific Non Disease gene26 Missense Substitution AKAP14 c.386C>G p.A129G 3 Recurrent X Specific Non Disease gene27 Missense Substitution AKAP4 c.2312A>C p.Q771P 1 Nonrecurrent X Specific Non Disease gene28 Silent Substitution ALG13 c.183C>T p.Y61Y 5 Recurrent X Specific Non Disease gene29 Missense Substitution AMELX c.227A>G p.H76R 1 Nonrecurrent X Specific Disease gene30 Silent Substitution AMELX c.261C>T p.H87H 30 Recurrent X Specific Disease gene31 Sil t S b tit ti AMMECR1 960T C N320N 2 R t X S ifi N Di31 Silent Substitution AMMECR1 c.960T>C p.N320N 2 Recurrent X Specific Non Disease gene32 Ins/Del (in frame) AMOT TGCTGTTGCTGCTGCTGCTGCTCCAG 5 Recurrent X Specific Non Disease gene33 Ins/Del (in frame) AMOT c.1857_1858insCCT p.A620>PA 5 Recurrent X Specific Non Disease gene34 Missense Substitution AMOT c.1261G>A p.G421R 1 Nonrecurrent X Specific Non Disease gene35 Missense Substitution AMOT c.1576A>G p.T526A 1 Nonrecurrent X Specific Non Disease gene36 Silent Substitution AMOT c.1203C>A p.I401I 18 Recurrent X Specific Non Disease gene37 Silent Substitution AMOT c.726C>T p.N242N 2 Recurrent X Specific Non Disease gene38 Silent Substitution AMOT c.15G>A p.Q5Q 4 Recurrent X Specific Non Disease gene39 Ins/Del (out of frame) AP1S2 c.180-2delTACA 1 Nonrecurrent X Specific XLMR gene40 NonsenseSubstitution AP1S2 c.106C>T p.Q36* 1 Nonrecurrent X Specific XLMR gene40 NonsenseSubstitution AP1S2 c.106C T p.Q36 1 Nonrecurrent X Specific XLMR gene41 NonsenseSubstitution AP1S2 c.154C>T p.R52* 1 Nonrecurrent X Specific XLMR gene42 Missense Substitution APEX2 c.968C>T p.P323L 1 Nonrecurrent X Specific Non Disease gene43 Silent Substitution APEX2 c.1278T>C p.T426T 1 Nonrecurrent X Specific Non Disease gene44 Silent Substitution APEX2 c.249C>T p.A83A 4 Recurrent X Specific Non Disease gene45 Silent Substitution APEX2 c.177C>T p.P59P 2 Recurrent X Specific Non Disease gene46 Silent Substitution APEX2 c.1038C>A p.L346L 5 Recurrent X Specific Non Disease gene47 Missense Substitution APLN c.223A>G p.M75V 1 Nonrecurrent X Specific Non Disease gene48 Missense Substitution APOO c.133G>T p.V45F 1 Nonrecurrent X Specific Non Disease gene49 Missense Substitution APOOL c.40G>T p.A14S 1 Nonrecurrent X Specific Non Disease gene0 Sil S b i i AR 636G A R212R 1 N X S ifi Di50 Silent Substitution AR c.636G>A p.R212R 1 Nonrecurrent X Specific Disease gene

51 Silent Substitution AR c.1737C>T p.S579S 1 Nonrecurrent X Specific Disease gene52 Silent Substitution AR c.639G>A p.E213E 22 Recurrent X Specific Disease gene53 Missense Substitution ARAF c.542C>A p.T181N 1 Nonrecurrent X Specific Non Disease gene54 Missense Substitution ARHGAP4 c.157A>G p.M53V 1 Nonrecurrent X Specific Non Disease gene55 Missense Substitution ARHGAP4 c.2470A>C p.S824R 2 Recurrent X Specific Non Disease gene56 Silent Substitution ARHGAP4 c.1533G>A p.K511K 1 Nonrecurrent X Specific Non Disease gene57 Missense Substitution ARHGAP6 c.2373C>G p.D791E 34 Recurrent X Specific Non Disease gene58 Silent Substitution ARHGAP6 c.2289C>A p.S763S 1 Nonrecurrent X Specific Non Disease gene59 Missense Substitution ARHGEF6 c 362G>A p R121H 1 Nonrecurrent X Specific XLMR gene59 Missense Substitution ARHGEF6 c.362G>A p.R121H 1 Nonrecurrent X Specific XLMR gene60 Missense Substitution ARHGEF6 c.992A>G p.Y331C 1 Nonrecurrent X Specific XLMR gene61 Silent Substitution ARMCX1 c.15G>A p.R5R 1 Nonrecurrent X Specific Non Disease gene62 Silent Substitution ARMCX1 c.309C>T p.G103G 28 Recurrent X Specific Non Disease gene63 Silent Substitution ARMCX2 c.639G>A p.S213S 1 Nonrecurrent X Specific Non Disease gene64 Silent Substitution ARMCX2 c.1509G>A p.Q503Q 54 Recurrent X Specific Non Disease gene65 Missense Substitution ARMCX3 c.1004T>A p.F335Y 1 Nonrecurrent X Specific Non Disease gene66 Silent Substitution ARMCX3 c.888G>A p.K296K 30 Recurrent X Specific Non Disease gene67 Silent Substitution ARMCX4 c.246C>T p.Y82Y 25 Recurrent X Specific Non Disease gene68 Missense Substitution ARMCX4 c.526A>G p.R176G 128 Recurrent X Specific Non Disease gene





72 Silent Substitution ARMCX5 c.1239A>G p.G413G 7 Recurrent X Specific Non Disease gene73 Silent Substitution ARMCX5 c.609C>T p.I203I 4 Recurrent X Specific Non Disease genep p g74 Missense Substitution ARMCX6 c.463A>G p.S155G 29 Recurrent X Specific Non Disease gene75 Ins/Del (in frame) ARSD GCGTGGGCTGCCTGTTTTTCATCTCT 6 Recurrent X Specific Non Disease gene76 Missense Substitution ARSD c.470C>T p.S157F 14 Recurrent X Specific Non Disease gene77 Missense Substitution ARSD c.497T>A p.L166Q 16 Recurrent X Specific Non Disease gene78 Missense Substitution ARSD c.671C>G p.S224C 94 Recurrent X Specific Non Disease gene79 Missense Substitution ARSD c.527T>A p.M176K 16 Recurrent X Specific Non Disease gene80 Missense Substitution ARSD c.524G>A p.G175D 45 Recurrent X Specific Non Disease gene81 Missense Substitution ARSD c.1691T>C p.M564T 7 Recurrent X Specific Non Disease gene82 Missense Substitution ARSD c.661G>A p.G221S 14 Recurrent X Specific Non Disease gene83 Missense Substitution ARSD c 667T>C p F223L 2 Recurrent X Specific Non Disease gene83 Missense Substitution ARSD c.667T>C p.F223L 2 Recurrent X Specific Non Disease gene84 Missense Substitution ARSD c.667T>A p.F223I 13 Recurrent X Specific Non Disease gene85 Silent Substitution ARSD c.624G>C p.A208A 17 Recurrent X Specific Non Disease gene86 Silent Substitution ARSD c.648C>T p.A216A 18 Recurrent X Specific Non Disease gene87 Silent Substitution ARSD c.570C>T p.P190P 15 Recurrent X Specific Non Disease gene88 Silent Substitution ARSD c.693C>T p.T231T 2 Recurrent X Specific Non Disease gene89 Missense Substitution ARSE c.548G>A p.R183H 1 Nonrecurrent X Specific Disease gene90 Silent Substitution ARSE c.786G>A p.T262T 6 Recurrent X Specific Disease gene91 Silent Substitution ARSE c.495T>C p.H165H 4 Recurrent X Specific Disease gene92 Missense Substitution ARSF c.1579C>T p.H527Y 16 Recurrent X Specific Non Disease genep p g93 Missense Substitution ARSF c.1579C>A p.H527N 1 Nonrecurrent X Specific Non Disease gene94 Missense Substitution ARSF c.1141G>A p.V381I 1 Nonrecurrent X Specific Non Disease gene95 Missense Substitution ARSF c.598A>G p.I200V 8 Recurrent X Specific Non Disease gene96 Missense Substitution ARSF c.178C>T p.R60C 73 Recurrent X Specific Non Disease gene97 Missense Substitution ARSF c.244C>T p.R82W 77 Recurrent X Specific Non Disease gene98 Missense Substitution ARSF c.175G>C p.D59H 74 Recurrent X Specific Non Disease gene99 Missense Substitution ARSF c.251C>T p.A84V 77 Recurrent X Specific Non Disease gene100 Missense Substitution ARSF c.223G>A p.A75T 74 Recurrent X Specific Non Disease gene101 Missense Substitution ARSF c.229C>A p.L77I 76 Recurrent X Specific Non Disease gene102 Sil t S b tit ti ARSF 1602G A V534V 5 R t X S ifi N Di102 Silent Substitution ARSF c.1602G>A p.V534V 5 Recurrent X Specific Non Disease gene103 Silent Substitution ARSF c.1386C>T p.D462D 10 Recurrent X Specific Non Disease gene104 Silent Substitution ARSF c.1357C>T p.L453L 9 Recurrent X Specific Non Disease gene105 Silent Substitution ARSF c.273C>G p.P91P 71 Recurrent X Specific Non Disease gene106 Silent Substitution ARSF c.810A>G p.E270E 22 Recurrent X Specific Non Disease gene107 Silent Substitution ARSF c.18C>G p.P6P 4 Recurrent X Specific Non Disease gene108 Splice ARSF IVS8+5 G>A 1 Nonrecurrent X Specific Non Disease gene109 Missense Substitution ARSH c.1552C>T p.R518C 1 Nonrecurrent X Specific Non Disease gene110 Missense Substitution ARSH c.430C>A p.P144T 3 Recurrent X Specific Non Disease gene111 Missense Substitution ARSH c.563G>A p.R188H 6 Recurrent X Specific Non Disease gene111 Missense Substitution ARSH c.563G A p.R188H 6 Recurrent X Specific Non Disease gene112 Silent Substitution ARSH c.147C>T p.L49L 2 Recurrent X Specific Non Disease gene113 Silent Substitution ARSH c.1611A>G p.P537P 3 Recurrent X Specific Non Disease gene114 Silent Substitution ARSH c.192C>T p.T64T 11 Recurrent X Specific Non Disease gene115 Missense Substitution ASB11 c.787A>G p.S263G 6 Recurrent X Specific Non Disease gene116 Missense Substitution ASB12 c.712G>T p.G238C 1 Nonrecurrent X Specific Non Disease gene117 Silent Substitution ASB12 c.792C>A p.A264A 1 Nonrecurrent X Specific Non Disease gene118 Silent Substitution ASB12 c.45C>T p.P15P 3 Recurrent X Specific Non Disease gene119 Missense Substitution ASB9 c.707T>C p.V236A 1 Nonrecurrent X Specific Non Disease gene120 Silent Substitution ASB9 c.357T>C p.N119N 2 Recurrent X Specific Non Disease gene121 Mi S b i i ASMT 1C A N1 K 1 N PAR N Di121 Missense Substitution ASMT c.51C>A p.N17K 1 Nonrecurrent PAR Non Disease gene122 Silent Substitution ASMT c.187C>T p.L63L 1 Nonrecurrent PAR Non Disease gene123 Silent Substitution ASMT c.45C>T p.Y15Y 1 Nonrecurrent PAR Non Disease gene124 Silent Substitution ASMT c.861C>T p.D287D 26 Recurrent PAR Non Disease gene125 Missense Substitution ASMTL c.585C>G p.N195K 1 Nonrecurrent PAR Non Disease gene126 Missense Substitution ASMTL c.682T>C p.S228P 48 Recurrent PAR Non Disease gene127 Missense Substitution ASMTL c.1090T>C p.Y364H 49 Recurrent PAR Non Disease gene128 Missense Substitution ASMTL c.1300G>A p.G434S 36 Recurrent PAR Non Disease gene129 Missense Substitution ASMTL c.1622G>A p.R541K 3 Recurrent PAR Non Disease gene130 Silent Substitution ASMTL c 1215G>A p A405A 1 Nonrecurrent PAR Non Disease gene130 Silent Substitution ASMTL c.1215G>A p.A405A 1 Nonrecurrent PAR Non Disease gene131 Silent Substitution ASMTL c.1671G>A p.T557T 1 Nonrecurrent PAR Non Disease gene132 Silent Substitution ASMTL c.996G>A p.A332A 1 Nonrecurrent PAR Non Disease gene133 Silent Substitution ASMTL c.1101G>A p.S367S 1 Nonrecurrent PAR Non Disease gene134 Silent Substitution ASMTL c.1386G>C p.T462T 70 Recurrent PAR Non Disease gene135 Silent Substitution ASMTL c.276A>G p.T92T 14 Recurrent PAR Non Disease gene136 Silent Substitution ASMTL c.732C>T p.G244G 74 Recurrent PAR Non Disease gene137 Silent Substitution ASMTL c.648T>C p.R216R 72 Recurrent PAR Non Disease gene138 Ins/Del (out of frame) ASMTL c.1864delT p.*622fs*8 68 Recurrent PAR Non Disease gene139 Missense Substitution ATP11C c.2009G>A p.G670D 1 Nonrecurrent X Specific Non Disease gene





143 Missense Substitution ATP11C c.1750A>G p.T584A 1 Nonrecurrent X Specific Non Disease gene144 Missense Substitution ATP11C c.342T>G p.C114W 155 Recurrent X Specific Non Disease genep p g145 Silent Substitution ATP11C c.1653T>C p.S551S 1 Nonrecurrent X Specific Non Disease gene146 Missense Substitution ATP1B4 c.910A>T p.T304S 1 Nonrecurrent X Specific Non Disease gene147 Missense Substitution ATP1B4 c.23G>C p.R8T 1 Nonrecurrent X Specific Non Disease gene148 Silent Substitution ATP1B4 c.261G>A p.Q87Q 1 Nonrecurrent X Specific Non Disease gene149 Missense Substitution ATP2B3 c.1687G>A p.E563K 1 Nonrecurrent X Specific Non Disease gene150 Silent Substitution ATP2B3 c.1014G>A p.E338E 1 Nonrecurrent X Specific Non Disease gene151 Silent Substitution ATP2B3 c.588G>A p.T196T 1 Nonrecurrent X Specific Non Disease gene152 Silent Substitution ATP2B3 c.1686C>G p.R562R 1 Nonrecurrent X Specific Non Disease gene153 Silent Substitution ATP2B3 c.1473A>G p.G491G 116 Recurrent X Specific Non Disease gene154 Silent Substitution ATP2B3 c 2592G>C p V864V 111 Recurrent X Specific Non Disease gene154 Silent Substitution ATP2B3 c.2592G>C p.V864V 111 Recurrent X Specific Non Disease gene155 Silent Substitution ATP6AP2 c.472C>T p.L158L 1 Nonrecurrent X Specific XLMR gene156 Silent Substitution ATP6AP2 c.765T>C p.Y255Y 1 Nonrecurrent X Specific XLMR gene157 Missense Substitution ATP7A c.1009G>A p.A337T 1 Nonrecurrent X Specific XLMR gene158 Missense Substitution ATP7A c.2299G>C p.V767L 30 Recurrent X Specific XLMR gene159 Silent Substitution ATP7A c.327G>A p.K109K 2 Recurrent X Specific XLMR gene160 Ins/Del (in frame) ATRX 568_576delGCTTTTAAG p.A190_S193 1 Nonrecurrent X Specific XLMR gene161 Missense Substitution ATRX c.6149A>C p.H2050P 1 Nonrecurrent X Specific XLMR gene162 Missense Substitution ATRX c.4525C>T p.P1509S 1 Nonrecurrent X Specific XLMR gene163 Missense Substitution ATRX c.4253C>T p.A1418V 1 Nonrecurrent X Specific XLMR genep p g164 Missense Substitution ATRX c.826A>G p.T276A 1 Nonrecurrent X Specific XLMR gene165 Missense Substitution ATRX c.4967A>G p.N1656S 2 Recurrent X Specific XLMR gene166 Missense Substitution ATRX c.5642G>A p.R1881H 1 Nonrecurrent X Specific XLMR gene167 Missense Substitution ATRX c.2173C>G p.Q725E 39 Recurrent X Specific XLMR gene168 Missense Substitution ATRX c.1983C>G p.H661Q 2 Recurrent X Specific XLMR gene169 Silent Substitution ATRX c.6642C>T p.Y2214Y 1 Nonrecurrent X Specific XLMR gene170 Silent Substitution ATRX c.234C>T p.S78S 1 Nonrecurrent X Specific XLMR gene171 Missense Substitution ATXN3L c.995G>A p.G332D 60 Recurrent X Specific Non Disease gene172 Missense Substitution ATXN3L c.765G>C p.M255I 1 Nonrecurrent X Specific Non Disease gene173 Sil t S b tit ti ATXN3L 939G A R313R 22 R t X S ifi N Di173 Silent Substitution ATXN3L c.939G>A p.R313R 22 Recurrent X Specific Non Disease gene174 NonsenseSubstitution ATXN3L c.76G>T p.E26* 1 Nonrecurrent X Specific Non Disease gene175 Missense Substitution AVPR2 c.35G>A p.G12E 4 Recurrent X Specific Disease gene176 Silent Substitution AVPR2 c.1017G>A p.L339L 1 Nonrecurrent X Specific Disease gene177 Silent Substitution AVPR2 c.117G>A p.A39A 1 Nonrecurrent X Specific Disease gene178 Silent Substitution AVPR2 c.927A>G p.L309L 49 Recurrent X Specific Disease gene179 Silent Substitution AVPR2 c.993C>T p.S331S 4 Recurrent X Specific Disease gene180 Missense Substitution BCOR c.4789G>A p.D1597N 1 Nonrecurrent X Specific XLMR gene181 Silent Substitution BCOR c.1650C>T p.T550T 1 Nonrecurrent X Specific XLMR gene182 Silent Substitution BCOR c.3348C>T p.P1116P 1 Nonrecurrent X Specific XLMR gene182 Silent Substitution BCOR c.3348C T p.P1116P 1 Nonrecurrent X Specific XLMR gene183 Silent Substitution BCOR c.1257A>G p.K419K 1 Nonrecurrent X Specific XLMR gene184 Silent Substitution BCOR c.1692A>G p.A564A 14 Recurrent X Specific XLMR gene185 Silent Substitution BCOR c.1260T>C p.D420D 167 Recurrent X Specific XLMR gene186 Missense Substitution BCORL1 c.3601G>A p.E1201K 1 Nonrecurrent X Specific Non Disease gene187 Missense Substitution BCORL1 c.3143G>A p.R1048Q 1 Nonrecurrent X Specific Non Disease gene188 Missense Substitution BCORL1 c.3158A>G p.K1053R 2 Recurrent X Specific Non Disease gene189 Missense Substitution BCORL1 c.625G>A p.G209S 17 Recurrent X Specific Non Disease gene190 Silent Substitution BCORL1 c.2064C>T p.V688V 1 Nonrecurrent X Specific Non Disease gene191 Silent Substitution BCORL1 c.4011C>T p.S1337S 1 Nonrecurrent X Specific Non Disease gene192 Sil S b i i BCORL1 1446G A P482P 2 R X S ifi N Di192 Silent Substitution BCORL1 c.1446G>A p.P482P 2 Recurrent X Specific Non Disease gene193 Missense Substitution BEX2 c.207A>G p.I69M 1 Nonrecurrent X Specific Non Disease gene194 Silent Substitution BEX2 c.204C>T p.D68D 1 Nonrecurrent X Specific Non Disease gene195 Missense Substitution BEX4 c.22G>A p.E8K 1 Nonrecurrent X Specific Non Disease gene196 Missense Substitution BEX4 c.15C>G p.I5M 7 Recurrent X Specific Non Disease gene197 Silent Substitution BEX4 c.567C>T p.C189C 2 Recurrent X Specific Non Disease gene198 Splice BEX4 IVS1+1 G>A 1 Nonrecurrent X Specific Non Disease gene199 Missense Substitution BGN c.257A>G p.K86R 2 Recurrent X Specific Non Disease gene200 Silent Substitution BGN c.540C>T p.S180S 77 Recurrent X Specific Non Disease gene201 Silent Substitution BGN c 141G>A p S47S 89 Recurrent X Specific Non Disease gene201 Silent Substitution BGN c.141G>A p.S47S 89 Recurrent X Specific Non Disease gene202 Silent Substitution BGN c.564C>T p.I188I 3 Recurrent X Specific Non Disease gene203 Silent Substitution BHLHB9 c.1212T>C p.H404H 1 Nonrecurrent X Specific Non Disease gene204 Missense Substitution BIRC4 c.769C>G p.P257A 1 Nonrecurrent X Specific Disease gene205 Missense Substitution BIRC4 c.1268A>C p.Q423P 58 Recurrent X Specific Disease gene206 Missense Substitution BIRC4 c.1411T>C p.C471R 28 Recurrent X Specific Disease gene207 Missense Substitution BIRC4 c.1456A>G p.T486A 22 Recurrent X Specific Disease gene208 Missense Substitution BIRC4 c.1387G>A p.V463I 28 Recurrent X Specific Disease gene209 Missense Substitution BIRC4 c.1403T>C p.L468P 28 Recurrent X Specific Disease gene210 Ins/Del (in frame) BMP15 c.788_789insTCT p.R264> 1 Nonrecurrent X Specific Disease gene





214 Missense Substitution BMP15 c.202C>T p.R68W 1 Nonrecurrent X Specific Disease gene215 Missense Substitution BMP15 c.520C>T p.P174S 1 Nonrecurrent X Specific Disease genep p g216 Silent Substitution BMP15 c.852C>T p.S284S 2 Recurrent X Specific Disease gene217 Missense Substitution BMP2KL c.401G>A p.S134N 1 Nonrecurrent X Specific Non Disease gene218 Missense Substitution BMX c.851C>T p.S284L 1 Nonrecurrent X Specific Non Disease gene219 Missense Substitution BMX c.506G>A p.R169K 1 Nonrecurrent X Specific Non Disease gene220 Silent Substitution BMX c.264T>A p.L88L 1 Nonrecurrent X Specific Non Disease gene221 Missense Substitution BRWD3 c.4786A>G p.K1596E 1 Nonrecurrent X Specific XLMR gene222 Ins/Del (out of frame) BRWD3 c.946_947insA p.R316fs*2 1 Nonrecurrent X Specific XLMR gene223 Splice BRWD3 IVS29+1 G>T 1 Nonrecurrent X Specific XLMR gene224 Silent Substitution BTK c.1899C>T p.C633C 32 Recurrent X Specific Disease gene225 Missense Substitution C1GALT1C1 c 428C>T p A143V 1 Nonrecurrent X Specific Disease gene225 Missense Substitution C1GALT1C1 c.428C>T p.A143V 1 Nonrecurrent X Specific Disease gene226 Missense Substitution C1GALT1C1 c.393T>A p.D131E 36 Recurrent X Specific Disease gene227 Silent Substitution CA5B c.189C>A p.R63R 1 Nonrecurrent X Specific Non Disease gene228 Silent Substitution CA5B c.918G>A p.A306A 66 Recurrent X Specific Non Disease gene229 Missense Substitution CACNA1F c.2417C>T p.A806V 1 Nonrecurrent X Specific Disease gene230 Missense Substitution CACNA1F c.1556G>A p.R519Q 1 Nonrecurrent X Specific Disease gene231 Missense Substitution CACNA1F c.5789G>A p.R1930H 5 Recurrent X Specific Disease gene232 Missense Substitution CACNA1F c.1903G>A p.V635I 1 Nonrecurrent X Specific Disease gene233 Silent Substitution CACNA1F c.1842C>T p.G614G 55 Recurrent X Specific Disease gene234 Silent Substitution CACNA1F c.3846G>A p.E1282E 1 Nonrecurrent X Specific Disease genep p g235 Silent Substitution CACNA1F c.5862C>T p.D1954D 1 Nonrecurrent X Specific Disease gene236 Silent Substitution CACNA1F c.3309T>C p.H1103H 53 Recurrent X Specific Disease gene237 Missense Substitution CAPN6 c.1493C>T p.T498I 1 Nonrecurrent X Specific Non Disease gene238 Missense Substitution CAPN6 c.829G>C p.V277L 6 Recurrent X Specific Non Disease gene239 Silent Substitution CAPN6 c.1449C>T p.L483L 1 Nonrecurrent X Specific Non Disease gene240 Silent Substitution CAPN6 c.432C>T p.N144N 1 Nonrecurrent X Specific Non Disease gene241 Silent Substitution CAPN6 c.1026T>C p.N342N 8 Recurrent X Specific Non Disease gene242 Missense Substitution CASK c.2129A>G p.D710G 1 Nonrecurrent X Specific Non Disease gene243 Missense Substitution CASK c.802T>C p.Y268H 1 Nonrecurrent X Specific Non Disease gene244 Sil t S b tit ti CASK 1392C T T464T 1 N t X S ifi N Di244 Silent Substitution CASK c.1392C>T p.T464T 1 Nonrecurrent X Specific Non Disease gene245 Missense Substitution CCDC120 c.1778G>A p.R593H 1 Nonrecurrent X Specific Non Disease gene246 Silent Substitution CCDC120 c.102G>T p.G34G 1 Nonrecurrent X Specific Non Disease gene247 Missense Substitution CCDC22 c.1288G>A p.A430T 1 Nonrecurrent X Specific Non Disease gene248 Missense Substitution CCDC22 c.49A>G p.T17A 1 Nonrecurrent X Specific Non Disease gene249 Missense Substitution CCDC22 c.715G>A p.E239K 1 Nonrecurrent X Specific Non Disease gene250 Silent Substitution CCDC22 c.747G>A p.Q249Q 29 Recurrent X Specific Non Disease gene251 Missense Substitution CCNB3 c.2221A>G p.T741A 1 Nonrecurrent X Specific Non Disease gene252 Missense Substitution CCNB3 c.3809G>A p.R1270K 2 Recurrent X Specific Non Disease gene253 Silent Substitution CCNB3 c.3750C>T p.N1250N 1 Nonrecurrent X Specific Non Disease gene253 Silent Substitution CCNB3 c.3750C T p.N1250N 1 Nonrecurrent X Specific Non Disease gene254 Missense Substitution CD40LG c.655G>A p.G219R 3 Recurrent X Specific Disease gene255 Silent Substitution CD40LG c.148T>C p.L50L 36 Recurrent X Specific Disease gene256 Missense Substitution CD99 c.518A>T p.N173I 4 Recurrent PAR Non Disease gene257 Missense Substitution CD99 c.493G>A p.D165N 4 Recurrent PAR Non Disease gene258 Missense Substitution CD99 c.496A>G p.M166V 4 Recurrent PAR Non Disease gene259 Silent Substitution CD99 c.363C>T p.A121A 10 Recurrent PAR Non Disease gene260 Missense Substitution CD99L2 c.758C>T p.P253L 1 Nonrecurrent X Specific Non Disease gene261 Silent Substitution CD99L2 c.24C>T p.F8F 3 Recurrent X Specific Non Disease gene262 Missense Substitution CDKL5 c.2372A>C p.Q791P 16 Recurrent X Specific XLMR gene263 Mi S b i i CDKL 2200A G T 34A 1 N X S ifi XLMR263 Missense Substitution CDKL5 c.2200A>G p.T734A 1 Nonrecurrent X Specific XLMR gene264 Missense Substitution CDKL5 c.2840C>T p.P947L 1 Nonrecurrent X Specific XLMR gene265 Silent Substitution CDKL5 c.3003C>T p.H1001H 1 Nonrecurrent X Specific XLMR gene266 Silent Substitution CDKL5 c.3084G>A p.T1028T 1 Nonrecurrent X Specific XLMR gene267 Missense Substitution CDR1 c.620T>C p.I207T 1 Nonrecurrent X Specific Non Disease gene268 Missense Substitution CDR1 c.571T>C p.W191R 1 Nonrecurrent X Specific Non Disease gene269 Silent Substitution CDR1 c.300G>A p.L100L 1 Nonrecurrent X Specific Non Disease gene270 Missense Substitution CENPI c.167A>G p.H56R 1 Nonrecurrent X Specific Non Disease gene271 Missense Substitution CENPI c.1667T>C p.F556S 1 Nonrecurrent X Specific Non Disease gene272 Silent Substitution CENPI c 1674G>A p L558L 1 Nonrecurrent X Specific Non Disease gene272 Silent Substitution CENPI c.1674G>A p.L558L 1 Nonrecurrent X Specific Non Disease gene273 Silent Substitution CENPI c.1479G>T p.V493V 51 Recurrent X Specific Non Disease gene274 Missense Substitution CFP c.359T>C p.L120P 1 Nonrecurrent X Specific Disease gene275 Missense Substitution CFP c.1187G>A p.G396E 1 Nonrecurrent X Specific Disease gene276 Silent Substitution CFP c.1284C>T p.N428N 26 Recurrent X Specific Disease gene277 Missense Substitution CHM c.265A>T p.S89C 5 Recurrent X Specific Disease gene278 Missense Substitution CHM c.1100G>A p.R367Q 1 Nonrecurrent X Specific Disease gene279 Silent Substitution CHM c.351A>G p.A117A 28 Recurrent X Specific Disease gene280 Silent Substitution CHM c.1641G>T p.L547L 2 Recurrent X Specific Disease gene281 Silent Substitution CHRDL1 c.951A>G p.K317K 74 Recurrent X Specific Non Disease gene





285 Silent Substitution CLCN4 c.1758G>A p.V586V 1 Nonrecurrent X Specific Non Disease gene286 Silent Substitution CLCN4 c.1632G>A p.G544G 1 Nonrecurrent X Specific Non Disease genep p g287 Silent Substitution CLCN4 c.1437G>A p.A479A 6 Recurrent X Specific Non Disease gene288 Missense Substitution CLCN5 c.1625C>T p.A542V 1 Nonrecurrent X Specific Disease gene289 Missense Substitution CLCN5 c.384C>G p.S128R 1 Nonrecurrent X Specific Disease gene290 Missense Substitution CLDN2 c.56T>C p.L19S 1 Nonrecurrent X Specific Non Disease gene291 Missense Substitution CLIC2 c.478C>G p.P160A 1 Nonrecurrent X Specific Non Disease gene292 Missense Substitution CNGA2 c.913G>A p.D305N 1 Nonrecurrent X Specific Non Disease gene293 Missense Substitution CNGA2 c.416G>T p.W139L 23 Recurrent X Specific Non Disease gene294 Missense Substitution CNGA2 c.634C>G p.R212G 1 Nonrecurrent X Specific Non Disease gene295 Missense Substitution CNGA2 c.1987G>A p.E663K 11 Recurrent X Specific Non Disease gene296 Missense Substitution CNGA2 c 338G>T p G113V 2 Recurrent X Specific Non Disease gene296 Missense Substitution CNGA2 c.338G>T p.G113V 2 Recurrent X Specific Non Disease gene297 Missense Substitution CNGA2 c.1081G>A p.V361I 2 Recurrent X Specific Non Disease gene298 Silent Substitution CNGA2 c.840C>T p.L280L 1 Nonrecurrent X Specific Non Disease gene299 Silent Substitution CNGA2 c.1527G>A p.Q509Q 1 Nonrecurrent X Specific Non Disease gene300 Silent Substitution CNGA2 c.582G>A p.L194L 17 Recurrent X Specific Non Disease gene301 Missense Substitution CNKSR2 c.2598C>G p.D866E 1 Nonrecurrent X Specific Non Disease gene302 Missense Substitution CNKSR2 c.592A>G p.I198V 1 Nonrecurrent X Specific Non Disease gene303 Silent Substitution CNKSR2 c.651A>G p.Q217Q 1 Nonrecurrent X Specific Non Disease gene304 Missense Substitution COL4A5 c.1992G>T p.K664N 3 Recurrent X Specific Disease gene305 Missense Substitution COL4A5 c.1289C>A p.A430D 1 Nonrecurrent X Specific Disease genep p g306 Silent Substitution COL4A5 c.2571A>G p.G857G 1 Nonrecurrent X Specific Disease gene307 Missense Substitution COL4A6 c.1379G>T p.R460L 1 Nonrecurrent X Specific Disease gene308 Missense Substitution COL4A6 c.3886C>T p.P1296S 1 Nonrecurrent X Specific Disease gene309 Missense Substitution COL4A6 c.3481A>G p.I1161V 9 Recurrent X Specific Disease gene310 Missense Substitution COL4A6 c.323C>T p.P108L 1 Nonrecurrent X Specific Disease gene311 Missense Substitution COL4A6 c.3760G>T p.A1254S 1 Nonrecurrent X Specific Disease gene312 Missense Substitution COL4A6 c.1360T>C p.S454P 23 Recurrent X Specific Disease gene313 Silent Substitution COL4A6 c.3078C>T p.G1026G 35 Recurrent X Specific Disease gene314 Silent Substitution COL4A6 c.3402C>T p.A1134A 4 Recurrent X Specific Disease gene315 Mi S b tit ti CPXCR1 755G C G252A 5 R t X S ifi N Di315 Missense Substitution CPXCR1 c.755G>C p.G252A 5 Recurrent X Specific Non Disease gene316 Missense Substitution CPXCR1 c.392G>A p.R131H 82 Recurrent X Specific Non Disease gene317 Missense Substitution CPXCR1 c.532A>T p.I178L 1 Nonrecurrent X Specific Non Disease gene318 Missense Substitution CPXCR1 c.773C>T p.T258I 1 Nonrecurrent X Specific Non Disease gene319 Missense Substitution MED14 c.2860T>C p.Y954H 2 Recurrent X Specific Non Disease gene320 Silent Substitution MED14 c.4041G>A p.P1347P 1 Nonrecurrent X Specific Non Disease gene321 Silent Substitution MED14 c.2094A>G p.Q698Q 2 Recurrent X Specific Non Disease gene322 Missense Substitution CSAG1 c.83A>T p.Y28F 3 Recurrent X Specific Non Disease gene323 Missense Substitution CSAG1 c.83A>G p.Y28C 2 Recurrent X Specific Non Disease gene324 Silent Substitution CSAG4 c.78C>T p.P26P 37 Recurrent X Specific Non Disease gene324 Silent Substitution CSAG4 c.78C T p.P26P 37 Recurrent X Specific Non Disease gene325 Missense Substitution CSF2RA c.50C>G p.A17G 7 Recurrent PAR Non Disease gene326 Missense Substitution CSF2RA c.223A>G p.S75G 1 Nonrecurrent PAR Non Disease gene327 Missense Substitution CSF2RA c.1045T>C p.F349L 1 Nonrecurrent PAR Non Disease gene328 Silent Substitution CSF2RA c.987G>C p.V329V 1 Nonrecurrent PAR Non Disease gene329 Silent Substitution CSF2RA c.999G>A p.V333V 91 Recurrent PAR Non Disease gene330 Missense Substitution CSTF2 c.683C>G p.A228G 1 Nonrecurrent X Specific Non Disease gene331 Missense Substitution CTAG2 c.522G>T p.K174N 1 Nonrecurrent X Specific Non Disease gene332 Silent Substitution CTAG2 c.345T>G p.P115P 60 Recurrent X Specific Non Disease gene333 Missense Substitution CTPS2 c.308G>A p.R103H 2 Recurrent X Specific Non Disease gene334 Sil S b i i CTPS2 1 99G A P 33P 4 R X S ifi N Di334 Silent Substitution CTPS2 c.1599G>A p.P533P 4 Recurrent X Specific Non Disease gene335 Missense Substitution CUL4B c.1714C>T p.R572C 1 Nonrecurrent X Specific XLMR gene336 Missense Substitution CUL4B c.638C>T p.T213I 1 Nonrecurrent X Specific XLMR gene337 Silent Substitution CUL4B c.2234T>C p.V745A 1 Nonrecurrent X Specific XLMR gene338 Ins/Del (out of frame) CUL4B c.1007_1011delTTATA p.I336fs*2 1 Nonrecurrent X Specific XLMR gene339 NonsenseSubstitution CUL4B c.1162C>T p.R388* 1 Nonrecurrent X Specific XLMR gene340 NonsenseSubstitution CUL4B c.2566C>T p.R856* 1 Nonrecurrent X Specific XLMR gene341 Splice CUL4B IVS7-2 A>G 1 Nonrecurrent X Specific XLMR gene342 Splice (cryptic) CUL4B c.2493G>A p.T831T 1 Nonrecurrent X Specific XLMR gene343 Missense Substitution CXorf1 c 106T>G p S36A 2 Recurrent X Specific Non Disease gene343 Missense Substitution CXorf1 c.106T>G p.S36A 2 Recurrent X Specific Non Disease gene344 Missense Substitution CXorf15 c.894A>C p.E298D 1 Nonrecurrent X Specific Non Disease gene345 Missense Substitution CXorf15 c.736A>G p.I246V 2 Recurrent X Specific Non Disease gene346 Missense Substitution CXorf15 c.305C>T p.T102M 1 Nonrecurrent X Specific Non Disease gene347 Silent Substitution CXorf15 c.1326G>A p.Q442Q 62 Recurrent X Specific Non Disease gene348 Missense Substitution CXorf20 c.1435C>G p.L479V 1 Nonrecurrent X Specific Non Disease gene349 Missense Substitution CXorf20 c.462T>G p.F154L 23 Recurrent X Specific Non Disease gene350 Silent Substitution CXorf20 c.1164C>A p.P388P 1 Nonrecurrent X Specific Non Disease gene351 Missense Substitution CXorf21 c.362G>T p.C121F 1 Nonrecurrent X Specific Non Disease gene352 Silent Substitution CXorf21 c.627T>G p.V209V 122 Recurrent X Specific Non Disease gene





356 Silent Substitution CXorf22 c.129C>T p.I43I 22 Recurrent X Specific Non Disease gene357 Silent Substitution CXorf22 c.180C>T p.L60L 3 Recurrent X Specific Non Disease genep p g358 Silent Substitution CXorf22 c.630G>A p.Q210Q 3 Recurrent X Specific Non Disease gene359 Silent Substitution CXorf22 c.1926T>C p.L642L 10 Recurrent X Specific Non Disease gene360 Missense Substitution CXorf23 c.631G>T p.V211L 1 Nonrecurrent X Specific Non Disease gene361 Missense Substitution CXorf24 c.251C>T p.T84I 53 Recurrent X Specific Non Disease gene362 Missense Substitution CXorf25 c.167G>A p.G56E 1 Nonrecurrent X Specific Non Disease gene363 Missense Substitution CXorf25 c.284C>T p.P95L 5 Recurrent X Specific Non Disease gene364 Missense Substitution CXorf27 c.292G>A p.A98T 1 Nonrecurrent X Specific Non Disease gene365 Silent Substitution CXorf27 c.171C>T p.L57L 2 Recurrent X Specific Non Disease gene366 Missense Substitution CXorf28 c.17C>T p.A6V 1 Nonrecurrent X Specific Non Disease gene367 Silent Substitution CXorf28 c 63G>A p G21G 17 Recurrent X Specific Non Disease gene367 Silent Substitution CXorf28 c.63G>A p.G21G 17 Recurrent X Specific Non Disease gene368 Missense Substitution CXorf30 c.398A>G p.H133R 13 Recurrent X Specific Non Disease gene369 Missense Substitution CXorf30 c.2738T>A p.F913Y 13 Recurrent X Specific Non Disease gene370 Missense Substitution CXorf30 c.2336T>C p.M779T 2 Recurrent X Specific Non Disease gene371 Missense Substitution CXorf30 c.515C>T p.T172M 1 Nonrecurrent X Specific Non Disease gene372 Missense Substitution CXorf30 c.233G>A p.R78H 3 Recurrent X Specific Non Disease gene373 Silent Substitution CXorf30 c.261A>G p.L87L 2 Recurrent X Specific Non Disease gene374 Silent Substitution CXorf30 c.18A>G p.E6E 5 Recurrent X Specific Non Disease gene375 Missense Substitution CXorf34 c.1009G>A p.G337R 13 Recurrent X Specific Non Disease gene376 Missense Substitution CXorf34 c.333A>C p.L111F 7 Recurrent X Specific Non Disease genep p g377 Missense Substitution CXorf36 c.383G>A p.R128K 67 Recurrent X Specific Non Disease gene378 Missense Substitution CXorf38 c.629C>T p.T210M 4 Recurrent X Specific Non Disease gene379 Silent Substitution CXorf38 c.76T>C p.L26L 97 Recurrent X Specific Non Disease gene380 Silent Substitution CXorf41 c.333G>A p.E111E 1 Nonrecurrent X Specific Non Disease gene381 Missense Substitution HDX c.1190T>C p.F397S 31 Recurrent X Specific Non Disease gene382 Silent Substitution HDX c.1683G>A p.P561P 31 Recurrent X Specific Non Disease gene383 Missense Substitution CXorf45 c.875C>T p.S292F 1 Nonrecurrent X Specific Non Disease gene384 Silent Substitution CXorf56 c.375C>T p.G125G 89 Recurrent X Specific Non Disease gene385 Missense Substitution CXorf57 c.2279A>G p.H760R 1 Nonrecurrent X Specific Non Disease gene386 Sil t S b tit ti CX f57 2418A G P806P 1 N t X S ifi N Di386 Silent Substitution CXorf57 c.2418A>G p.P806P 1 Nonrecurrent X Specific Non Disease gene387 Missense Substitution CXorf58 c.62A>G p.Q21R 3 Recurrent X Specific Non Disease gene388 Missense Substitution CXorf58 c.70C>T p.R24C 50 Recurrent X Specific Non Disease gene389 Silent Substitution CXorf58 c.21A>T p.V7V 1 Nonrecurrent X Specific Non Disease gene390 Missense Substitution CXorf59 c.98A>T p.D33V 1 Nonrecurrent X Specific Non Disease gene391 Missense Substitution CXorf59 c.314A>C p.H105P 1 Nonrecurrent X Specific Non Disease gene392 Missense Substitution CXorf6 c.1547C>T p.T516M 1 Nonrecurrent X Specific Disease gene393 Missense Substitution CXorf6 c.1480C>T p.P494S 1 Nonrecurrent X Specific Disease gene394 Missense Substitution CXorf6 c.856C>T p.P286S 17 Recurrent X Specific Disease gene395 Silent Substitution CXorf6 c.207C>T p.G69G 1 Nonrecurrent X Specific Disease gene395 Silent Substitution CXorf6 c.207C T p.G69G 1 Nonrecurrent X Specific Disease gene396 Missense Substitution CXorf9 c.847G>C p.D283H 1 Nonrecurrent X Specific Non Disease gene397 Missense Substitution CXYorf2 c.385C>G p.R129G 33 Recurrent PAR Non Disease gene398 Missense Substitution CXYorf2 c.320A>T p.H107L 1 Nonrecurrent PAR Non Disease gene399 Missense Substitution CXYorf2 c.307T>C p.C103R 13 Recurrent PAR Non Disease gene400 Silent Substitution CXYorf2 c.390T>C p.D130D 33 Recurrent PAR Non Disease gene401 Silent Substitution CXYorf2 c.268C>T p.L90L 44 Recurrent PAR Non Disease gene402 Missense Substitution CXYorf3 c.386C>T p.S129F 1 Nonrecurrent PAR Non Disease gene403 Missense Substitution CXYorf3 c.569C>T p.P190L 3 Recurrent PAR Non Disease gene404 Missense Substitution CXYorf3 c.256A>G p.K86E 1 Nonrecurrent PAR Non Disease gene40 Mi S b i i CXY f3 310A G S104G 1 N PAR N Di405 Missense Substitution CXYorf3 c.310A>G p.S104G 1 Nonrecurrent PAR Non Disease gene406 Missense Substitution CXYorf3 c.2023C>T p.R675C 5 Recurrent PAR Non Disease gene407 Missense Substitution CXYorf3 c.1498C>G p.P500A 34 Recurrent PAR Non Disease gene408 Silent Substitution CXYorf3 c.666C>T p.R222R 68 Recurrent PAR Non Disease gene409 Silent Substitution CXYorf3 c.1923G>A p.P641P 1 Nonrecurrent PAR Non Disease gene410 Silent Substitution CXYorf3 c.585C>T p.Y195Y 1 Nonrecurrent PAR Non Disease gene411 Silent Substitution CXYorf3 c.705C>T p.R235R 1 Nonrecurrent PAR Non Disease gene412 Silent Substitution CXYorf3 c.255C>T p.N85N 7 Recurrent PAR Non Disease gene413 Silent Substitution CXYorf3 c.9G>A p.A3A 5 Recurrent PAR Non Disease gene414 Silent Substitution CYSLTR1 c 927C>T p F309F 139 Recurrent X Specific Non Disease gene414 Silent Substitution CYSLTR1 c.927C>T p.F309F 139 Recurrent X Specific Non Disease gene415 Missense Substitution DACH2 c.1136C>T p.P379L 1 Nonrecurrent X Specific Non Disease gene416 Missense Substitution DACH2 c.1268T>C p.M423T 1 Nonrecurrent X Specific Non Disease gene417 Missense Substitution DDX3X c.1939G>A p.G647R 1 Nonrecurrent X Specific Non Disease gene418 Missense Substitution DDX53 c.490G>A p.E164K 1 Nonrecurrent X Specific Non Disease gene419 Missense Substitution DDX53 c.1143G>T p.M381I 25 Recurrent X Specific Non Disease gene420 Missense Substitution DDX53 c.1172G>T p.R391M 25 Recurrent X Specific Non Disease gene421 Missense Substitution DDX53 c.319G>T p.A107S 1 Nonrecurrent X Specific Non Disease gene422 Silent Substitution DDX53 c.1074C>T p.D358D 2 Recurrent X Specific Non Disease gene423 Missense Substitution DGAT2L3 c.238C>G p.H80D 3 Recurrent X Specific Non Disease gene





427 Missense Substitution DGAT2L4 c.82A>C p.I28L 1 Nonrecurrent X Specific Non Disease gene428 Missense Substitution DGAT2L4 c.286A>G p.I96V 1 Nonrecurrent X Specific Non Disease genep p g429 Missense Substitution DIAPH2 c.3106C>A p.R1036S 1 Nonrecurrent X Specific Disease gene430 Missense Substitution DIAPH2 c.247G>A p.A83T 1 Nonrecurrent X Specific Disease gene431 Silent Substitution DIAPH2 c.588C>T p.S196S 2 Recurrent X Specific Disease gene432 Silent Substitution DKC1 c.1461C>T p.A487A 5 Recurrent X Specific XLMR gene433 Missense Substitution DLG3 c.304G>A p.G102S 1 Nonrecurrent X Specific XLMR gene434 Silent Substitution DLG3 c.429C>T p.F143F 1 Nonrecurrent X Specific XLMR gene435 Missense Substitution DMD c.626C>T p.S209F 1 Nonrecurrent X Specific XLMR gene436 Missense Substitution DMD c.1349A>T p.E450V 3 Recurrent X Specific XLMR gene437 Missense Substitution DMD c.1354A>G p.N452D 3 Recurrent X Specific XLMR gene438 Missense Substitution DMD c 1382A>G p H461R 5 Recurrent X Specific XLMR gene438 Missense Substitution DMD c.1382A>G p.H461R 5 Recurrent X Specific XLMR gene439 Missense Substitution DMD c.1565G>A p.R522Q 1 Nonrecurrent X Specific XLMR gene440 Silent Substitution DMD c.1653G>A p.P551P 1 Nonrecurrent X Specific XLMR gene441 Silent Substitution DMD c.240G>A p.K80K 1 Nonrecurrent X Specific XLMR gene442 Silent Substitution DMD c.348T>C p.N116N 33 Recurrent X Specific XLMR gene443 Silent Substitution DMD c.3409C>T p.L1137L 2 Recurrent X Specific XLMR gene444 Missense Substitution DNASE1L1 c.364G>A p.V122I 8 Recurrent X Specific Non Disease gene445 Missense Substitution DNASE1L1 c.278G>A p.S93N 1 Nonrecurrent X Specific Non Disease gene446 Silent Substitution DNASE1L1 c.294G>A p.T98T 1 Nonrecurrent X Specific Non Disease gene447 Silent Substitution DNASE1L1 c.201C>G p.P67P 114 Recurrent X Specific Non Disease genep p g448 Missense Substitution DRP2 c.1508C>T p.T503M 1 Nonrecurrent X Specific Non Disease gene449 Missense Substitution DRP2 c.430G>A p.A144T 1 Nonrecurrent X Specific Non Disease gene450 Missense Substitution DRP2 c.193G>C p.V65L 19 Recurrent X Specific Non Disease gene451 Missense Substitution DRP2 c.171C>A p.S57R 4 Recurrent X Specific Non Disease gene452 Silent Substitution DRP2 c.1746G>A p.E582E 1 Nonrecurrent X Specific Non Disease gene453 Silent Substitution DRP2 c.1938G>T p.L646L 3 Recurrent X Specific Non Disease gene454 Splice DRP2 IVS13+5 G>A 7 Recurrent X Specific Non Disease gene455 Splice DRP2 IVS10+1 G>C 1 Nonrecurrent X Specific Non Disease gene456 Missense Substitution DUSP21 c.557T>C p.M186T 11 Recurrent X Specific Non Disease gene457 Mi S b tit ti DUSP21 550C G L184V 1 N t X S ifi N Di457 Missense Substitution DUSP21 c.550C>G p.L184V 1 Nonrecurrent X Specific Non Disease gene458 Missense Substitution DUSP21 c.562A>G p.I188V 4 Recurrent X Specific Non Disease gene459 Silent Substitution DYNLT3 c.183C>T p.A61A 22 Recurrent X Specific Non Disease gene460 Silent Substitution EDA c.757C>T p.L253L 1 Nonrecurrent X Specific Disease gene461 Missense Substitution EDA2R c.170G>A p.R57K 140 Recurrent X Specific Non Disease gene462 Silent Substitution EDA2R c.621C>T p.N207N 1 Nonrecurrent X Specific Non Disease gene463 Missense Substitution EFHC2 c.170G>A p.C57Y 1 Nonrecurrent X Specific Non Disease gene464 Missense Substitution EFHC2 c.92A>G p.N31S 12 Recurrent X Specific Non Disease gene465 Missense Substitution EFHC2 c.1519G>C p.E507Q 1 Nonrecurrent X Specific Non Disease gene466 Missense Substitution EFHC2 c.1289C>A p.S430Y 15 Recurrent X Specific Non Disease gene466 Missense Substitution EFHC2 c.1289C A p.S430Y 15 Recurrent X Specific Non Disease gene467 Missense Substitution EFNB1 c.422G>C p.S141T 1 Nonrecurrent X Specific Disease gene468 Silent Substitution EFNB1 c.891C>T p.T297T 1 Nonrecurrent X Specific Disease gene469 Missense Substitution EGFL6 c.1127A>G p.E376G 1 Nonrecurrent X Specific Non Disease gene470 Missense Substitution EGFL6 c.1603G>A p.D535N 2 Recurrent X Specific Non Disease gene471 Missense Substitution EGFL6 c.223G>A p.V75M 1 Nonrecurrent X Specific Non Disease gene472 Silent Substitution EGFL6 c.1087C>A p.R363R 1 Nonrecurrent X Specific Non Disease gene473 Silent Substitution EGFL6 c.867C>T p.S289S 6 Recurrent X Specific Non Disease gene474 Missense Substitution EIF2S3 c.451G>C p.V151L 1 Nonrecurrent X Specific Non Disease gene475 Missense Substitution EIF2S3 c.374A>G p.K125R 8 Recurrent X Specific Non Disease gene4 6 Sil S b i i EIF2S3 99C T H33H 120 R X S ifi N Di476 Silent Substitution EIF2S3 c.99C>T p.H33H 120 Recurrent X Specific Non Disease gene477 Silent Substitution ELF4 c.1107G>A p.S369S 3 Recurrent X Specific Non Disease gene478 Silent Substitution ELF4 c.1509G>A p.T503T 54 Recurrent X Specific Non Disease gene479 Silent Substitution ELF4 c.1152A>T p.P384P 3 Recurrent X Specific Non Disease gene480 Missense Substitution ELK1 c.970A>T p.S324C 1 Nonrecurrent X Specific Non Disease gene481 Missense Substitution ELK1 c.548G>A p.S183N 2 Recurrent X Specific Non Disease gene482 Silent Substitution ELK1 c.141G>A p.G47G 1 Nonrecurrent X Specific Non Disease gene483 Silent Substitution ELK1 c.672C>A p.P224P 2 Recurrent X Specific Non Disease gene484 Missense Substitution EMD c.684G>T p.Q228H 1 Nonrecurrent X Specific Disease gene485 Missense Substitution ENOX2 c 1448A>G p E483G 1 Nonrecurrent X Specific Non Disease gene485 Missense Substitution ENOX2 c.1448A>G p.E483G 1 Nonrecurrent X Specific Non Disease gene486 Missense Substitution ESX1 c.578A>G p.K193R 16 Recurrent X Specific Non Disease gene487 Missense Substitution ESX1 c.389C>T p.A130V 2 Recurrent X Specific Non Disease gene488 Silent Substitution ESX1 c.225G>A p.E75E 2 Recurrent X Specific Non Disease gene489 Missense Substitution F8 c.1216G>A p.A406T 1 Nonrecurrent X Specific Disease gene490 Missense Substitution F8 c.396A>C p.E132D 1 Nonrecurrent X Specific Disease gene491 Missense Substitution F8 c.6533G>A p.R2178H 1 Nonrecurrent X Specific Disease gene492 Missense Substitution F8 c.5059A>G p.I1687V 1 Nonrecurrent X Specific Disease gene493 Missense Substitution F8 c.3780C>G p.D1260E 34 Recurrent X Specific Disease gene494 Silent Substitution F8 c.102C>T p.D34D 1 Nonrecurrent X Specific Disease gene





498 Silent Substitution F9 c.819T>C p.V273V 2 Recurrent X Specific Disease gene499 Missense Substitution FAAH2 c.124C>T p.R42W 6 Recurrent X Specific Non Disease genep p g500 Silent Substitution FAAH2 c.966G>A p.V322V 1 Nonrecurrent X Specific Non Disease gene501 Silent Substitution FAAH2 c.1404T>C p.P468P 17 Recurrent X Specific Non Disease gene502 Silent Substitution FAAH2 c.99T>C p.G33G 42 Recurrent X Specific Non Disease gene503 Ins/Del (in frame) FAM120C c.329_330insGCCGCC p.Q112>PPQ 11 Recurrent X Specific Non Disease gene504 Missense Substitution FAM120C c.1298G>A p.R433Q 1 Nonrecurrent X Specific Non Disease gene505 Missense Substitution FAM120C c.882G>A p.M294I 1 Nonrecurrent X Specific Non Disease gene506 Missense Substitution FAM120C c.2802G>A p.M934I 2 Recurrent X Specific Non Disease gene507 Silent Substitution FAM122B c.255A>G p.S85S 1 Nonrecurrent X Specific Non Disease gene508 Silent Substitution FAM122B c.84A>G p.L28L 1 Nonrecurrent X Specific Non Disease gene509 Silent Substitution FAM122B c 252A>G p Q84Q 6 Recurrent X Specific Non Disease gene509 Silent Substitution FAM122B c.252A>G p.Q84Q 6 Recurrent X Specific Non Disease gene510 Missense Substitution FAM122C c.202C>T p.P68S 2 Recurrent X Specific Non Disease gene511 Missense Substitution FAM123B c.742C>A p.P248T 1 Nonrecurrent X Specific Non Disease gene512 Missense Substitution FAM123B c.477T>G p.F159L 3 Recurrent X Specific Non Disease gene513 Silent Substitution FAM123B c.135C>T p.S45S 2 Recurrent X Specific Non Disease gene514 Missense Substitution FAM133A c.199G>A p.E67K 12 Recurrent X Specific Non Disease gene515 Silent Substitution FAM3A c.393C>T p.N131N 1 Nonrecurrent X Specific Non Disease gene516 Missense Substitution FAM45B c.88T>C p.W30R 7 Recurrent X Specific Non Disease gene517 Missense Substitution FAM46D c.555C>G p.D185E 138 Recurrent X Specific Non Disease gene518 Missense Substitution FAM47A c.632T>C p.L211P 2 Recurrent X Specific Non Disease genep p g519 Missense Substitution FAM47A c.1129G>T p.A377S 21 Recurrent X Specific Non Disease gene520 Missense Substitution FAM47B c.1256G>C p.R419P 2 Recurrent X Specific Non Disease gene521 Missense Substitution FAM47B c.1649C>T p.P550L 1 Nonrecurrent X Specific Non Disease gene522 Missense Substitution FAM47B c.544T>C p.Y182H 2 Recurrent X Specific Non Disease gene523 Missense Substitution FAM47B c.1861G>A p.V621I 1 Nonrecurrent X Specific Non Disease gene524 Missense Substitution FAM47B c.358G>C p.E120Q 20 Recurrent X Specific Non Disease gene525 NonsenseSubstitution FAM47B c.331C>T p.Q111* 1 Nonrecurrent X Specific Non Disease gene526 Missense Substitution FAM47C c.524C>A p.P175H 1 Nonrecurrent X Specific Non Disease gene527 Missense Substitution FAM47C c.2942C>T p.A981V 2 Recurrent X Specific Non Disease gene528 Mi S b tit ti FAM47C 2771A C N924T 2 R t X S ifi N Di528 Missense Substitution FAM47C c.2771A>C p.N924T 2 Recurrent X Specific Non Disease gene529 Silent Substitution FAM47C c.552G>A p.G184G 2 Recurrent X Specific Non Disease gene530 Missense Substitution FAM50A c.410C>T p.A137V 2 Recurrent X Specific Non Disease gene531 Missense Substitution FAM50A c.956T>G p.F319C 1 Nonrecurrent X Specific Non Disease gene532 Silent Substitution FAM50A c.612C>T p.S204S 1 Nonrecurrent X Specific Non Disease gene533 Missense Substitution FAM9A c.427G>A p.A143T 1 Nonrecurrent X Specific Non Disease gene534 Missense Substitution FAM9A c.238G>A p.D80N 4 Recurrent X Specific Non Disease gene535 Missense Substitution FAM9C c.337C>T p.R113C 1 Nonrecurrent X Specific Non Disease gene536 Missense Substitution FANCB c.1004G>A p.G335E 8 Recurrent X Specific XLMR gene537 Missense Substitution FANCB c.2435A>G p.Y812C 1 Nonrecurrent X Specific XLMR gene537 Missense Substitution FANCB c.2435A G p.Y812C 1 Nonrecurrent X Specific XLMR gene538 Silent Substitution FANCB c.2004C>T p.A668A 1 Nonrecurrent X Specific XLMR gene539 Missense Substitution FATE1 c.320G>A p.G107D 2 Recurrent X Specific Non Disease gene540 Missense Substitution FATE1 c.29C>T p.A10V 17 Recurrent X Specific Non Disease gene541 Missense Substitution FGD1 c.110C>T p.A37V 1 Nonrecurrent X Specific XLMR gene542 Missense Substitution FGD1 c.935C>T p.P312L 1 Nonrecurrent X Specific XLMR gene543 Silent Substitution FGD1 c.2091T>C p.T697T 3 Recurrent X Specific XLMR gene544 Silent Substitution FGD1 c.2136A>G p.P712P 2 Recurrent X Specific XLMR gene545 Missense Substitution FHL1 c.823G>A p.D275N 1 Nonrecurrent X Specific Non Disease gene546 Silent Substitution FHL1 c.441C>T p.D147D 2 Recurrent X Specific Non Disease gene4 Sil S b i i FIGF 111G A L3 L 6 R X S ifi N Di547 Silent Substitution FIGF c.111G>A p.L37L 6 Recurrent X Specific Non Disease gene

548 Missense Substitution FLNA c.3814C>T p.R1272C 1 Nonrecurrent X Specific XLMR gene549 Missense Substitution FLNA c.2162C>T p.A721V 1 Nonrecurrent X Specific XLMR gene550 Silent Substitution FLNA c.3897C>T p.N1299N 1 Nonrecurrent X Specific XLMR gene551 Silent Substitution FLNA c.7434G>A p.E2478E 1 Nonrecurrent X Specific XLMR gene552 Silent Substitution FLNA c.6642G>C p.V2214V 1 Nonrecurrent X Specific XLMR gene553 Silent Substitution FLNA c.5850T>C p.A1950A 17 Recurrent X Specific XLMR gene554 Silent Substitution FMR1 c.1857C>T p.D619D 1 Nonrecurrent X Specific XLMR gene555 Silent Substitution FMR1 c.414G>A p.R138R 21 Recurrent X Specific XLMR gene556 Missense Substitution FMR1NB c 425C>T p A142V 71 Recurrent X Specific Non Disease gene556 Missense Substitution FMR1NB c.425C>T p.A142V 71 Recurrent X Specific Non Disease gene557 Missense Substitution FOXO4 c.751G>A p.D251N 1 Nonrecurrent X Specific Non Disease gene558 Missense Substitution FOXP3 c.100G>A p.D34N 2 Recurrent X Specific Disease gene559 Silent Substitution FOXP3 c.1221C>T p.T407T 1 Nonrecurrent X Specific Disease gene560 Silent Substitution FOXP3 c.543C>T p.S181S 8 Recurrent X Specific Disease gene561 Missense Substitution FOXR2 c.199C>G p.P67A 1 Nonrecurrent X Specific Non Disease gene562 Missense Substitution FOXR2 c.857T>C p.V286A 115 Recurrent X Specific Non Disease gene563 Silent Substitution FOXR2 c.42C>T p.L14L 1 Nonrecurrent X Specific Non Disease gene564 Missense Substitution FRMD7 c.842C>T p.S281L 9 Recurrent X Specific Non Disease gene565 Missense Substitution FRMD7 c.1474C>T p.P492S 1 Nonrecurrent X Specific Non Disease gene





569 Silent Substitution FRMD7 c.1533T>C p.I511I 61 Recurrent X Specific Non Disease gene570 Silent Substitution FRMD7 c.1101T>C p.N367N 16 Recurrent X Specific Non Disease genep p g571 Missense Substitution FRMPD3 c.1745G>A p.S582N 1 Nonrecurrent X Specific Non Disease gene572 Missense Substitution FRMPD3 c.3842C>T p.S1281L 1 Nonrecurrent X Specific Non Disease gene573 Missense Substitution FRMPD3 c.4322C>T p.S1441F 1 Nonrecurrent X Specific Non Disease gene574 Missense Substitution FRMPD3 c.74G>A p.G25E 1 Nonrecurrent X Specific Non Disease gene575 Silent Substitution FRMPD3 c.1263C>T p.C421C 1 Nonrecurrent X Specific Non Disease gene576 Silent Substitution FRMPD3 c.816T>C p.L272L 1 Nonrecurrent X Specific Non Disease gene577 Silent Substitution FRMPD3 c.5454A>G p.Q1818Q 3 Recurrent X Specific Non Disease gene578 Silent Substitution FRMPD3 c.2205G>A p.E735E 2 Recurrent X Specific Non Disease gene579 Silent Substitution FRMPD4 c.2868C>T p.S956S 1 Nonrecurrent X Specific Non Disease gene580 Silent Substitution FRMPD4 c 3937C>A p R1313R 1 Nonrecurrent X Specific Non Disease gene580 Silent Substitution FRMPD4 c.3937C>A p.R1313R 1 Nonrecurrent X Specific Non Disease gene581 Silent Substitution FRMPD4 c.438G>A p.S146S 1 Nonrecurrent X Specific Non Disease gene582 Silent Substitution FRMPD4 c.1401C>G p.V467V 17 Recurrent X Specific Non Disease gene583 Silent Substitution FTHL17 c.141G>A p.V47V 11 Recurrent X Specific Non Disease gene584 Missense Substitution FTSJ1 c.706G>A p.V236M 1 Nonrecurrent X Specific XLMR gene585 Silent Substitution FTSJ1 c.738G>A p.S246S 1 Nonrecurrent X Specific XLMR gene586 Silent Substitution FUNDC1 c.48C>T p.D16D 5 Recurrent X Specific Non Disease gene587 Silent Substitution FUNDC1 c.81A>C p.A27A 3 Recurrent X Specific Non Disease gene588 Missense Substitution G6PD c.582C>G p.D194E 1 Nonrecurrent X Specific Disease gene589 Missense Substitution G6PD c.311G>A p.R104H 1 Nonrecurrent X Specific Disease genep p g590 Missense Substitution G6PD c.844G>C p.D282H 1 Nonrecurrent X Specific Disease gene591 Missense Substitution GAB3 c.110G>A p.R37H 1 Nonrecurrent X Specific Non Disease gene592 Missense Substitution GAB3 c.709C>T p.P237S 12 Recurrent X Specific Non Disease gene593 Missense Substitution GAB3 c.1088T>C p.L363S 1 Nonrecurrent X Specific Non Disease gene594 Missense Substitution GABRE c.304T>G p.S102A 96 Recurrent X Specific Non Disease gene595 Silent Substitution GABRE c.579C>T p.A193A 10 Recurrent X Specific Non Disease gene596 Silent Substitution GABRE c.186G>A p.G62G 2 Recurrent X Specific Non Disease gene597 Silent Substitution GABRE c.240C>T p.A80A 14 Recurrent X Specific Non Disease gene598 Missense Substitution GABRQ c.805C>T p.L269F 1 Nonrecurrent X Specific Non Disease gene599 Mi S b tit ti GABRQ 1432T A F478I 63 R t X S ifi N Di599 Missense Substitution GABRQ c.1432T>A p.F478I 63 Recurrent X Specific Non Disease gene600 Silent Substitution GABRQ c.660C>T p.N220N 1 Nonrecurrent X Specific Non Disease gene601 Silent Substitution GABRQ c.1464C>T p.A488A 1 Nonrecurrent X Specific Non Disease gene602 Missense Substitution GDPD2 c.7G>A p.E3K 1 Nonrecurrent X Specific Non Disease gene603 Missense Substitution GDPD2 c.1483G>A p.V495I 2 Recurrent X Specific Non Disease gene604 Silent Substitution GDPD2 c.792T>C p.D264D 15 Recurrent X Specific Non Disease gene605 Missense Substitution GEMIN8 c.91G>T p.A31S 2 Recurrent X Specific Non Disease gene606 Silent Substitution GK c.165G>A p.Q55Q 22 Recurrent X Specific XLMR gene607 Missense Substitution GLA c.937G>T p.D313Y 2 Recurrent X Specific Disease gene608 Missense Substitution GLOD5 c.511A>G p.K171E 2 Recurrent X Specific Non Disease gene608 Missense Substitution GLOD5 c.511A G p.K171E 2 Recurrent X Specific Non Disease gene609 Missense Substitution GLOD5 c.55G>A p.G19R 1 Nonrecurrent X Specific Non Disease gene610 Missense Substitution GLOD5 c.76G>A p.A26T 35 Recurrent X Specific Non Disease gene611 Missense Substitution GLRA2 c.1261A>G p.I421V 2 Recurrent X Specific Non Disease gene612 Silent Substitution GLRA2 c.747T>C p.H249H 65 Recurrent X Specific Non Disease gene613 Missense Substitution GLRA4 c.313C>T p.P105S 1 Nonrecurrent X Specific Non Disease gene614 Missense Substitution GLRA4 c.253A>G p.I85V 165 Recurrent X Specific Non Disease gene615 Missense Substitution GLRA4 c.432G>C p.E144D 1 Nonrecurrent X Specific Non Disease gene616 Silent Substitution GLRA4 c.555C>G p.T185T 51 Recurrent X Specific Non Disease gene617 Missense Substitution GLUD2 c.1492T>G p.S498A 6 Recurrent X Specific Non Disease gene618 I /D l (i f ) GNL3L 1 1 9d lAAA K62 W63 W 3 R X S ifi N Di618 Ins/Del (in frame) GNL3L c.177_179delAAA p.K62_W63>W 3 Recurrent X Specific Non Disease gene619 Missense Substitution GNL3L c.1145A>C p.E382A 1 Nonrecurrent X Specific Non Disease gene620 Missense Substitution GNL3L c.1255A>G p.K419E 1 Nonrecurrent X Specific Non Disease gene621 Missense Substitution GNL3L c.1106G>A p.R369H 1 Nonrecurrent X Specific Non Disease gene622 Missense Substitution GNL3L c.1501G>T p.A501S 1 Nonrecurrent X Specific Non Disease gene623 Silent Substitution GNL3L c.1563C>T p.D521D 1 Nonrecurrent X Specific Non Disease gene624 Missense Substitution GPC4 c.1276G>T p.G426W 1 Nonrecurrent X Specific Non Disease gene625 Missense Substitution GPC4 c.1173G>T p.E391D 54 Recurrent X Specific Non Disease gene626 Missense Substitution GPC4 c.1325C>T p.A442V 47 Recurrent X Specific Non Disease gene627 Missense Substitution GPKOW c 385G>A p A129T 1 Nonrecurrent X Specific Non Disease gene627 Missense Substitution GPKOW c.385G>A p.A129T 1 Nonrecurrent X Specific Non Disease gene628 Silent Substitution GPKOW c.366G>A p.A122A 1 Nonrecurrent X Specific Non Disease gene629 Silent Substitution GPM6B c.105C>T p.Y35Y 2 Recurrent X Specific Non Disease gene630 Missense Substitution GPR101 c.1127T>C p.L376P 21 Recurrent X Specific Non Disease gene631 Missense Substitution GPR101 c.476C>T p.A159V 1 Nonrecurrent X Specific Non Disease gene632 Missense Substitution GPR101 c.370G>T p.V124L 96 Recurrent X Specific Non Disease gene633 Silent Substitution GPR101 c.735G>A p.E245E 1 Nonrecurrent X Specific Non Disease gene634 Silent Substitution GPR101 c.1224T>C p.Y408Y 1 Nonrecurrent X Specific Non Disease gene635 Ins/Del (in frame) GPR112 c.7969_7971delGAT p.D2657_M2658>M 125 Recurrent X Specific Non Disease gene636 Missense Substitution GPR112 c.4639T>A p.C1547S 2 Recurrent X Specific Non Disease gene





640 Missense Substitution GPR112 c.4618T>C p.S1540P 97 Recurrent X Specific Non Disease gene641 Missense Substitution GPR112 c.3697T>C p.S1233P 3 Recurrent X Specific Non Disease genep p g642 Missense Substitution GPR112 c.3638C>A p.T1213N 84 Recurrent X Specific Non Disease gene643 Missense Substitution GPR112 c.7211C>G p.T2404S 1 Nonrecurrent X Specific Non Disease gene644 Missense Substitution GPR112 c.3610A>T p.T1204S 2 Recurrent X Specific Non Disease gene645 Missense Substitution GPR112 c.5182A>C p.T1728P 9 Recurrent X Specific Non Disease gene646 Missense Substitution GPR112 c.1963A>G p.I655V 1 Nonrecurrent X Specific Non Disease gene647 Missense Substitution GPR112 c.5371T>C p.F1791L 97 Recurrent X Specific Non Disease gene648 Missense Substitution GPR112 c.828A>G p.I276M 58 Recurrent X Specific Non Disease gene649 Missense Substitution GPR112 c.2209G>T p.A737S 1 Nonrecurrent X Specific Non Disease gene650 Silent Substitution GPR112 c.5517A>G p.S1839S 1 Nonrecurrent X Specific Non Disease gene651 Silent Substitution GPR112 c 7938C>T p T2646T 1 Nonrecurrent X Specific Non Disease gene651 Silent Substitution GPR112 c.7938C>T p.T2646T 1 Nonrecurrent X Specific Non Disease gene652 Silent Substitution GPR112 c.3252G>A p.L1084L 1 Nonrecurrent X Specific Non Disease gene653 Silent Substitution GPR112 c.5493C>T p.P1831P 97 Recurrent X Specific Non Disease gene654 Silent Substitution GPR112 c.7941C>A p.T2647T 124 Recurrent X Specific Non Disease gene655 Silent Substitution GPR112 c.8271T>C p.F2757F 118 Recurrent X Specific Non Disease gene656 Silent Substitution GPR112 c.9117G>A p.T3039T 123 Recurrent X Specific Non Disease gene657 Silent Substitution GPR112 c.4179T>C p.T1393T 94 Recurrent X Specific Non Disease gene658 Silent Substitution GPR112 c.4938C>G p.L1646L 7 Recurrent X Specific Non Disease gene659 Missense Substitution GPR119 c.659A>T p.D220V 1 Nonrecurrent X Specific Non Disease gene660 Missense Substitution GPR119 c.706C>G p.L236V 1 Nonrecurrent X Specific Non Disease genep p g661 Silent Substitution GPR173 c.1062C>T p.H354H 30 Recurrent X Specific Non Disease gene662 Silent Substitution GPR173 c.87G>A p.L29L 23 Recurrent X Specific Non Disease gene663 Missense Substitution GPR174 c.752C>T p.P251L 1 Nonrecurrent X Specific Non Disease gene664 Missense Substitution GPR174 c.484T>C p.S162P 101 Recurrent X Specific Non Disease gene665 Missense Substitution GPR174 c.263C>A p.P88H 1 Nonrecurrent X Specific Non Disease gene666 Missense Substitution GPR23 c.133G>A p.V45I 1 Nonrecurrent X Specific Non Disease gene667 Ins/Del (in frame) GPR50 5_1516delCCACTGGCCACA p.T502_I 79 Recurrent X Specific Non Disease gene668 Missense Substitution GPR50 c.1478G>A p.S493N 11 Recurrent X Specific Non Disease gene669 Missense Substitution GPR50 c.1505C>T p.T502I 2 Recurrent X Specific Non Disease gene670 Mi S b tit ti GPR50 1262T C V421A 1 N t X S ifi N Di670 Missense Substitution GPR50 c.1262T>C p.V421A 1 Nonrecurrent X Specific Non Disease gene671 Missense Substitution GPR50 c.1594A>G p.T532A 78 Recurrent X Specific Non Disease gene672 Missense Substitution GPR50 c.1816A>G p.I606V 97 Recurrent X Specific Non Disease gene673 Silent Substitution GPR50 c.1269C>T p.G423G 1 Nonrecurrent X Specific Non Disease gene674 Silent Substitution GPR50 c.555C>T p.N185N 2 Recurrent X Specific Non Disease gene675 Silent Substitution GPR50 c.1689G>A p.S563S 2 Recurrent X Specific Non Disease gene676 Missense Substitution GPR64 c.191A>G p.N64S 1 Nonrecurrent X Specific Non Disease gene677 Silent Substitution GPR64 c.2007G>C p.L669L 1 Nonrecurrent X Specific Non Disease gene678 Silent Substitution GPR64 c.1605G>A p.S535S 3 Recurrent X Specific Non Disease gene679 Silent Substitution GPR82 c.939T>C p.D313D 24 Recurrent X Specific Non Disease gene679 Silent Substitution GPR82 c.939T C p.D313D 24 Recurrent X Specific Non Disease gene680 Missense Substitution GPRASP1 c.3277C>T p.P1093S 2 Recurrent X Specific Non Disease gene681 Missense Substitution GPRASP1 c.944C>G p.A315G 12 Recurrent X Specific Non Disease gene682 Silent Substitution GPRASP1 c.3840G>A p.G1280G 1 Nonrecurrent X Specific Non Disease gene683 Missense Substitution GPRASP2 c.519A>C p.R173S 2 Recurrent X Specific Non Disease gene684 Missense Substitution GPRASP2 c.326G>A p.R109H 2 Recurrent X Specific Non Disease gene685 Silent Substitution GPRASP2 c.2163C>T p.S721S 2 Recurrent X Specific Non Disease gene686 Missense Substitution GRIA3 c.2117T>C p.M706T 1 Nonrecurrent X Specific XLMR gene687 Silent Substitution GRIA3 c.1200T>C p.N400N 110 Recurrent X Specific XLMR gene688 Missense Substitution GRIPAP1 c.662A>C p.E221A 3 Recurrent X Specific Non Disease gene689 Mi S b i i GRIPAP1 1394G A R46 Q 1 N X S ifi N Di689 Missense Substitution GRIPAP1 c.1394G>A p.R465Q 1 Nonrecurrent X Specific Non Disease gene690 Silent Substitution GRIPAP1 c.1242C>T p.S414S 1 Nonrecurrent X Specific Non Disease gene691 Silent Substitution GRIPAP1 c.591C>T p.H197H 1 Nonrecurrent X Specific Non Disease gene692 Missense Substitution GRPR c.691T>C p.Y231H 1 Nonrecurrent X Specific Non Disease gene693 Silent Substitution GRPR c.396G>A p.T132T 3 Recurrent X Specific Non Disease gene694 Silent Substitution GRPR c.720T>C p.S240S 1 Nonrecurrent X Specific Non Disease gene695 Silent Substitution GRPR c.663T>C p.I221I 49 Recurrent X Specific Non Disease gene696 Silent Substitution GRPR c.453T>C p.S151S 37 Recurrent X Specific Non Disease gene697 Missense Substitution SPANXN2 c.125A>C p.N42T 1 Nonrecurrent X Specific Non Disease gene698 Missense Substitution GSPT2 c 793A>G p K265E 1 Nonrecurrent X Specific Non Disease gene698 Missense Substitution GSPT2 c.793A>G p.K265E 1 Nonrecurrent X Specific Non Disease gene699 Missense Substitution GSPT2 c.1186G>A p.A396T 1 Nonrecurrent X Specific Non Disease gene700 Silent Substitution GSPT2 c.919T>C p.L307L 1 Nonrecurrent X Specific Non Disease gene701 Missense Substitution GTPBP6 c.167C>T p.P56L 12 Recurrent PAR Non Disease gene702 Missense Substitution GTPBP6 c.110A>G p.E37G 2 Recurrent PAR Non Disease gene703 Missense Substitution GTPBP6 c.584G>A p.R195Q 3 Recurrent PAR Non Disease gene704 Missense Substitution GTPBP6 c.373C>G p.L125V 1 Nonrecurrent PAR Non Disease gene705 Missense Substitution GTPBP6 c.317G>A p.R106H 1 Nonrecurrent PAR Non Disease gene706 Missense Substitution GTPBP6 c.583C>G p.R195G 1 Nonrecurrent PAR Non Disease gene707 Silent Substitution GTPBP6 c.324C>T p.H108H 1 Nonrecurrent PAR Non Disease gene





711 Missense Substitution GUCY2F c.2029G>C p.V677L 1 Nonrecurrent X Specific Non Disease gene712 Missense Substitution GUCY2F c.1140G>T p.Q380H 1 Nonrecurrent X Specific Non Disease genep p g713 Missense Substitution GUCY2F c.688C>T p.R230W 2 Recurrent X Specific Non Disease gene714 Missense Substitution GUCY2F c.479T>A p.I160N 2 Recurrent X Specific Non Disease gene715 Missense Substitution GUCY2F c.851T>C p.L284P 3 Recurrent X Specific Non Disease gene716 Missense Substitution GUCY2F c.887G>A p.R296Q 8 Recurrent X Specific Non Disease gene717 Silent Substitution GUCY2F c.2050C>T p.L684L 1 Nonrecurrent X Specific Non Disease gene718 Missense Substitution GYG2 c.1117C>T p.R373C 3 Recurrent X Specific Non Disease gene719 Missense Substitution GYG2 c.938A>G p.H313R 139 Recurrent X Specific Non Disease gene720 Missense Substitution GYG2 c.809C>T p.A270V 145 Recurrent X Specific Non Disease gene721 Missense Substitution GYG2 c.19C>T p.H7Y 25 Recurrent X Specific Non Disease gene722 Silent Substitution GYG2 c 651G>A p P217P 1 Nonrecurrent X Specific Non Disease gene722 Silent Substitution GYG2 c.651G>A p.P217P 1 Nonrecurrent X Specific Non Disease gene723 Missense Substitution H2BFWT c.259C>T p.R87W 6 Recurrent X Specific Non Disease gene724 Ins/Del (out of frame) H2BFWT c.510delA p.Q171fs*5 2 Recurrent X Specific Non Disease gene725 Missense Substitution HCCS c.215C>T p.A72V 6 Recurrent X Specific XLMR gene726 Missense Substitution HCFC1 c.2033C>T p.S678L 1 Nonrecurrent X Specific Non Disease gene727 Missense Substitution HCFC1 c.2299G>A p.A767T 1 Nonrecurrent X Specific Non Disease gene728 Missense Substitution HCFC1 c.4954T>C p.S1652P 4 Recurrent X Specific Non Disease gene729 Silent Substitution HCFC1 c.420C>G p.T140T 1 Nonrecurrent X Specific Non Disease gene730 Silent Substitution HCFC1 c.5106C>A p.P1702P 1 Nonrecurrent X Specific Non Disease gene731 Silent Substitution HCFC1 c.5199G>A p.L1733L 1 Nonrecurrent X Specific Non Disease genep p g732 Silent Substitution HCFC1 c.1992C>G p.T664T 22 Recurrent X Specific Non Disease gene733 Silent Substitution HCFC1 c.3894G>A p.A1298A 29 Recurrent X Specific Non Disease gene734 Silent Substitution HCFC1 c.5568C>T p.C1856C 100 Recurrent X Specific Non Disease gene735 Silent Substitution HCFC1 c.1818G>A p.T606T 3 Recurrent X Specific Non Disease gene736 Silent Substitution HCFC1 c.4251G>T p.L1417L 19 Recurrent X Specific Non Disease gene737 Splice HCFC1 IVS21+2T>C 1 Nonrecurrent X Specific Non Disease gene738 Missense Substitution HDAC6 c.3248G>A p.G1083D 2 Recurrent X Specific Non Disease gene739 Missense Substitution HDAC6 c.494G>A p.R165H 1 Nonrecurrent X Specific Non Disease gene740 Missense Substitution HDAC6 c.2495G>A p.R832H 3 Recurrent X Specific Non Disease gene741 Mi S b tit ti HDAC6 3598A G N1200D 1 N t X S ifi N Di741 Missense Substitution HDAC6 c.3598A>G p.N1200D 1 Nonrecurrent X Specific Non Disease gene742 Silent Substitution HDAC8 c.957C>T p.T319T 1 Nonrecurrent X Specific Non Disease gene743 Silent Substitution HDAC8 c.159G>A p.Q53Q 4 Recurrent X Specific Non Disease gene744 Missense Substitution HDHD1A c.221C>T p.T74M 41 Recurrent X Specific Non Disease gene745 Missense Substitution HDHD1A c.227C>T p.A76V 1 Nonrecurrent X Specific Non Disease gene746 Silent Substitution HDHD1A c.291G>A p.L97L 46 Recurrent X Specific Non Disease gene747 Silent Substitution HDHD1A c.312G>A p.A104A 46 Recurrent X Specific Non Disease gene748 Silent Substitution HDHD1A c.414G>A p.P138P 88 Recurrent X Specific Non Disease gene749 Silent Substitution HDHD1A c.315G>A p.S105S 4 Recurrent X Specific Non Disease gene750 Missense Substitution HEPH c.1531C>T p.P511S 1 Nonrecurrent X Specific Non Disease gene750 Missense Substitution HEPH c.1531C T p.P511S 1 Nonrecurrent X Specific Non Disease gene751 Missense Substitution HEPH c.1783G>A p.A595T 8 Recurrent X Specific Non Disease gene752 Missense Substitution HEPH c.3247G>T p.V1083L 1 Nonrecurrent X Specific Non Disease gene753 Silent Substitution HEPH c.3042C>T p.G1014G 1 Nonrecurrent X Specific Non Disease gene754 Silent Substitution HEPH c.96C>A p.I32I 1 Nonrecurrent X Specific Non Disease gene755 Silent Substitution HEPH c.1068C>A p.G356G 1 Nonrecurrent X Specific Non Disease gene756 Silent Substitution HEPH c.2379A>G p.T793T 43 Recurrent X Specific Non Disease gene757 Silent Substitution HEPH c.2295T>C p.Y765Y 44 Recurrent X Specific Non Disease gene758 Missense Substitution HNRPH2 c.769T>A p.S257T 1 Nonrecurrent X Specific Non Disease gene759 Silent Substitution HNRPH2 c.1320C>T p.N440N 5 Recurrent X Specific Non Disease gene60 Mi S b i i HS6ST2 1090G T A364S 3 R X S ifi N Di760 Missense Substitution HS6ST2 c.1090G>T p.A364S 3 Recurrent X Specific Non Disease gene

761 Missense Substitution HS6ST2 c.973G>A p.E325K 6 Recurrent X Specific Non Disease gene762 Silent Substitution HSD17B10 c.574C>A p.R192R 1 Nonrecurrent X Specific XLMR gene763 Missense Substitution HTATSF1 c.251G>A p.S84N 1 Nonrecurrent X Specific Non Disease gene764 Missense Substitution HTATSF1 c.1433G>C p.G478A 1 Nonrecurrent X Specific Non Disease gene765 Silent Substitution HTATSF1 c.1725C>T p.D575D 20 Recurrent X Specific Non Disease gene766 Missense Substitution HTR2C c.68G>C p.C23S 19 Recurrent X Specific Non Disease gene767 Silent Substitution HTR2C c.717C>T p.Y239Y 1 Nonrecurrent X Specific Non Disease gene768 Missense Substitution HUWE1 c.12229C>T p.R4077C 1 Nonrecurrent X Specific XLMR gene769 Missense Substitution HUWE1 c 11707C>T p R3903W 1 Nonrecurrent X Specific XLMR gene769 Missense Substitution HUWE1 c.11707C>T p.R3903W 1 Nonrecurrent X Specific XLMR gene770 Missense Substitution HUWE1 c.8612G>A p.R2871H 1 Nonrecurrent X Specific XLMR gene771 Missense Substitution HUWE1 c.1448A>G p.N483S 3 Recurrent X Specific XLMR gene772 Missense Substitution HUWE1 c.10358G>A p.G3453D 1 Nonrecurrent X Specific XLMR gene773 Missense Substitution HUWE1 c.6758T>G p.L2253R 1 Nonrecurrent X Specific XLMR gene774 Silent Substitution HUWE1 c.2655C>T p.L885L 1 Nonrecurrent X Specific XLMR gene775 Silent Substitution HUWE1 c.10377T>C p.F3459F 2 Recurrent X Specific XLMR gene776 Silent Substitution HUWE1 c.2109A>G p.S703S 97 Recurrent X Specific XLMR gene777 Silent Substitution HUWE1 c.147C>T p.C49C 1 Nonrecurrent X Specific XLMR gene778 Silent Substitution HUWE1 c.9771G>A p.R3257R 2 Recurrent X Specific XLMR gene





782 Missense Substitution IDS c.263G>A p.R88H 1 Nonrecurrent X Specific XLMR gene783 Silent Substitution IDS c.438C>T p.T146T 62 Recurrent X Specific XLMR genep p g784 Missense Substitution IGBP1 c.214G>C p.A72P 1 Nonrecurrent X Specific XLMR gene785 Missense Substitution IGBP1 c.608T>C p.I203T 1 Nonrecurrent X Specific XLMR gene786 Silent Substitution IGBP1 c.597G>A p.R199R 1 Nonrecurrent X Specific XLMR gene787 Missense Substitution IGSF1 c.2939T>C p.V980A 1 Nonrecurrent X Specific Non Disease gene788 Missense Substitution IGSF1 c.498G>C p.E166D 1 Nonrecurrent X Specific Non Disease gene789 Missense Substitution IGSF1 c.765G>A p.M255I 1 Nonrecurrent X Specific Non Disease gene790 Missense Substitution IGSF1 c.3228G>C p.M1076I 1 Nonrecurrent X Specific Non Disease gene791 Missense Substitution IGSF1 c.1184T>G p.L395R 1 Nonrecurrent X Specific Non Disease gene792 Silent Substitution IGSF1 c.3579C>T p.V1193V 42 Recurrent X Specific Non Disease gene793 Silent Substitution IGSF1 c 732G>A p L244L 1 Nonrecurrent X Specific Non Disease gene793 Silent Substitution IGSF1 c.732G>A p.L244L 1 Nonrecurrent X Specific Non Disease gene794 Silent Substitution IGSF1 c.1347A>G p.E449E 55 Recurrent X Specific Non Disease gene795 Silent Substitution IGSF1 c.2556T>C p.Y852Y 58 Recurrent X Specific Non Disease gene796 Missense Substitution IKBKG c.337G>A p.D113N 2 Recurrent X Specific XLMR gene797 Silent Substitution IL13RA1 c.1050C>T p.L350L 6 Recurrent X Specific Non Disease gene798 Missense Substitution IL13RA2 c.331T>C p.W111R 1 Nonrecurrent X Specific Non Disease gene799 Missense Substitution IL13RA2 c.827T>C p.I276T 1 Nonrecurrent X Specific Non Disease gene800 Missense Substitution IL1RAPL1 c.91T>C p.C31R 1 Nonrecurrent X Specific XLMR gene801 Silent Substitution IL1RAPL1 c.36C>T p.Y12Y 1 Nonrecurrent X Specific XLMR gene802 Silent Substitution IL1RAPL1 c.1605G>T p.T535T 1 Nonrecurrent X Specific XLMR genep p g803 Missense Substitution IL1RAPL2 c.317C>T p.A106V 1 Nonrecurrent X Specific Non Disease gene804 Missense Substitution IL1RAPL2 c.1916A>G p.H639R 1 Nonrecurrent X Specific Non Disease gene805 Silent Substitution IL1RAPL2 c.1059T>C p.Y353Y 19 Recurrent X Specific Non Disease gene806 Missense Substitution IL2RG c.1105A>G p.T369A 1 Nonrecurrent X Specific Disease gene807 NonsenseSubstitution IL9R c.58C>T p.R20* 1 Nonrecurrent PAR Non Disease gene808 Missense Substitution INE1 c.34C>T p.P12S 1 Nonrecurrent X Specific Non Disease gene809 Missense Substitution IQSEC2 c.2578C>T p.R860W 1 Nonrecurrent X Specific Non Disease gene810 Missense Substitution IQSEC2 c.2264G>A p.R755Q 1 Nonrecurrent X Specific Non Disease gene811 Missense Substitution IQSEC2 c.2393A>C p.Q798P 1 Nonrecurrent X Specific Non Disease gene812 Mi S b tit ti IRAK1 1874C T T625M 4 R t X S ifi N Di812 Missense Substitution IRAK1 c.1874C>T p.T625M 4 Recurrent X Specific Non Disease gene813 Missense Substitution IRAK1 c.1595C>T p.S532L 163 Recurrent X Specific Non Disease gene814 Silent Substitution IRAK1 c.585C>T p.P195P 1 Nonrecurrent X Specific Non Disease gene815 Silent Substitution IRAK1 c.483C>T p.V161V 162 Recurrent X Specific Non Disease gene816 Missense Substitution IRS4 c.2635C>G p.H879D 36 Recurrent X Specific Non Disease gene817 Missense Substitution IRS4 c.3620C>T p.A1207V 1 Nonrecurrent X Specific Non Disease gene818 Missense Substitution IRS4 c.1232GA>AT p.R411H 1 Nonrecurrent X Specific Non Disease gene819 Silent Substitution IRS4 c.1353C>T p.N451N 1 Nonrecurrent X Specific Non Disease gene820 Silent Substitution IRS4 c.3663G>A p.R1221R 1 Nonrecurrent X Specific Non Disease gene821 Missense Substitution ITIH5L c.3122G>C p.W1041S 22 Recurrent X Specific Non Disease gene821 Missense Substitution ITIH5L c.3122G C p.W1041S 22 Recurrent X Specific Non Disease gene822 Missense Substitution ITIH5L c.2104T>A p.Y702N 1 Nonrecurrent X Specific Non Disease gene823 Missense Substitution ITIH5L c.1159G>C p.G387R 1 Nonrecurrent X Specific Non Disease gene824 Missense Substitution ITIH5L c.1288G>C p.G430R 1 Nonrecurrent X Specific Non Disease gene825 Missense Substitution ITIH5L c.3163A>G p.S1055G 1 Nonrecurrent X Specific Non Disease gene826 Missense Substitution ITIH5L c.1739G>A p.R580H 1 Nonrecurrent X Specific Non Disease gene827 Missense Substitution ITIH5L c.2261C>T p.T754M 3 Recurrent X Specific Non Disease gene828 Silent Substitution ITIH5L c.1995A>G p.K665K 1 Nonrecurrent X Specific Non Disease gene829 NonsenseSubstitution ITIH5L c.670C>T p.R224* 1 Nonrecurrent X Specific Non Disease gene830 Splice ITIH5L IVS7+1 insT 1 Nonrecurrent X Specific Non Disease gene831 Mi S b i i ITM2A 21 C T A 2V R X S ifi N Di831 Missense Substitution ITM2A c.215C>T p.A72V 5 Recurrent X Specific Non Disease gene832 Silent Substitution ITM2A c.606G>A p.V202V 1 Nonrecurrent X Specific Non Disease gene833 Missense Substitution JARID1C c.2138C>T p.T713M 1 Nonrecurrent X Specific XLMR gene834 Missense Substitution JARID1C c.4637G>A p.R1546Q 1 Nonrecurrent X Specific XLMR gene835 Silent Substitution JARID1C c.1764G>A p.Q588Q 1 Nonrecurrent X Specific XLMR gene836 Silent Substitution JARID1C c.564G>A p.K188K 1 Nonrecurrent X Specific XLMR gene837 Missense Substitution KAL1 c.1759G>T p.V587L 1 Nonrecurrent X Specific Disease gene838 Missense Substitution KAL1 c.1532C>A p.S511Y 1 Nonrecurrent X Specific Disease gene839 Missense Substitution KAL1 c.1600G>A p.V534I 92 Recurrent X Specific Disease gene840 Silent Substitution KAL1 c 1833C>T p I611I 100 Recurrent X Specific Disease gene840 Silent Substitution KAL1 c.1833C>T p.I611I 100 Recurrent X Specific Disease gene841 Missense Substitution KCND1 c.1396C>G p.L466V 1 Nonrecurrent X Specific Non Disease gene842 Silent Substitution KCND1 c.1164C>T p.F388F 1 Nonrecurrent X Specific Non Disease gene843 Missense Substitution KCNE1L c.97C>T p.P33S 17 Recurrent X Specific Non Disease gene844 Missense Substitution KIAA1166 c.637C>T p.R213W 1 Nonrecurrent X Specific Non Disease gene845 Missense Substitution KIAA2022 c.3812T>C p.M1271T 1 Nonrecurrent X Specific Non Disease gene846 Missense Substitution KIAA2022 c.2801A>G p.N934S 2 Recurrent X Specific Non Disease gene847 Missense Substitution KIAA2022 c.133G>A p.A45T 1 Nonrecurrent X Specific Non Disease gene848 Missense Substitution KIAA2022 c.206C>G p.S69C 2 Recurrent X Specific Non Disease gene849 Silent Substitution KIAA2022 c.2598C>A p.S866S 2 Recurrent X Specific Non Disease gene





853 Silent Substitution KIF4A c.987T>C p.Y329Y 5 Recurrent X Specific Non Disease gene854 Silent Substitution KIF4A c.273C>T p.G91G 2 Recurrent X Specific Non Disease genep p g855 Silent Substitution KIF4A c.1656C>T p.P552P 7 Recurrent X Specific Non Disease gene856 Silent Substitution KIF4A c.969A>G p.T323T 4 Recurrent X Specific Non Disease gene857 Ins/Del (in frame) KLHL15 c.716_721delCAGAAT p.S239_F241>F 1 Nonrecurrent X Specific Non Disease gene858 Silent Substitution KLHL15 c.1779G>A p.P593P 1 Nonrecurrent X Specific Non Disease gene859 Missense Substitution KLHL4 c.211C>A p.H71N 1 Nonrecurrent X Specific Non Disease gene860 Silent Substitution KLHL4 c.1062G>T p.G354G 38 Recurrent X Specific Non Disease gene861 Silent Substitution KLHL4 c.1359C>T p.T453T 140 Recurrent X Specific Non Disease gene862 Missense Substitution L1CAM c.2302G>A p.V768I 2 Recurrent X Specific XLMR gene863 Missense Substitution L1CAM c.2583C>G p.H861Q 1 Nonrecurrent X Specific XLMR gene864 Missense Substitution L1CAM c 3370A>T p I1124F 1 Nonrecurrent X Specific XLMR gene864 Missense Substitution L1CAM c.3370A>T p.I1124F 1 Nonrecurrent X Specific XLMR gene865 Missense Substitution L1CAM c.1319A>G p.Q440R 1 Nonrecurrent X Specific XLMR gene866 Missense Substitution LAMP2 c.1171G>A p.V391I 1 Nonrecurrent X Specific XLMR gene867 Missense Substitution LAMP2 c.299C>T p.A100V 1 Nonrecurrent X Specific XLMR gene868 Silent Substitution LAMP2 c.927C>T p.S309S 12 Recurrent X Specific XLMR gene869 Silent Substitution LAMP2 c.519A>G p.V173V 1 Nonrecurrent X Specific XLMR gene870 Silent Substitution LAMP2 c.156A>T p.V52V 78 Recurrent X Specific XLMR gene871 Missense Substitution LANCL3 c.1142T>C p.L381P 13 Recurrent X Specific Non Disease gene872 Silent Substitution LANCL3 c.789C>T p.S263S 33 Recurrent X Specific Non Disease gene873 Silent Substitution LANCL3 c.717G>A p.S239S 4 Recurrent X Specific Non Disease genep p g874 Missense Substitution LAS1L c.806C>G p.A269G 1 Nonrecurrent X Specific Non Disease gene875 Silent Substitution LHFPL1 c.375T>C p.F125F 12 Recurrent X Specific Non Disease gene876 Silent Substitution PRICKLE3 c.1251G>A p.A417A 1 Nonrecurrent X Specific Non Disease gene877 Silent Substitution PRICKLE3 c.1662C>T p.S554S 14 Recurrent X Specific Non Disease gene878 Missense Substitution LONRF3 c.569G>C p.R190P 1 Nonrecurrent X Specific Non Disease gene879 Missense Substitution LONRF3 c.365C>G p.A122G 1 Nonrecurrent X Specific Non Disease gene880 Silent Substitution LONRF3 c.1428C>T p.Y476Y 1 Nonrecurrent X Specific Non Disease gene881 Silent Substitution LONRF3 c.924G>A p.P308P 1 Nonrecurrent X Specific Non Disease gene882 Silent Substitution LONRF3 c.1911A>G p.A637A 74 Recurrent X Specific Non Disease gene883 Sil t S b tit ti LONRF3 846T C N282N 5 R t X S ifi N Di883 Silent Substitution LONRF3 c.846T>C p.N282N 5 Recurrent X Specific Non Disease gene884 Silent Substitution LONRF3 c.42T>C p.A14A 11 Recurrent X Specific Non Disease gene885 Missense Substitution LRCH2 c.2092C>T p.P698S 1 Nonrecurrent X Specific Non Disease gene886 Missense Substitution LRCH2 c.781G>A p.E261K 3 Recurrent X Specific Non Disease gene887 Missense Substitution LRCH2 c.1628C>T p.S543F 1 Nonrecurrent X Specific Non Disease gene888 Silent Substitution LRCH2 c.687G>A p.E229E 1 Nonrecurrent X Specific Non Disease gene889 Silent Substitution LRCH2 c.1923T>C p.H641H 1 Nonrecurrent X Specific Non Disease gene890 Silent Substitution LUZP4 c.600A>G p.Q200Q 25 Recurrent X Specific Non Disease gene891 Silent Substitution LUZP4 c.618C>T p.G206G 4 Recurrent X Specific Non Disease gene892 Silent Substitution LUZP4 c.603T>A p.S201S 8 Recurrent X Specific Non Disease gene892 Silent Substitution LUZP4 c.603T A p.S201S 8 Recurrent X Specific Non Disease gene893 Silent Substitution LUZP4 c.597T>C p.G199G 7 Recurrent X Specific Non Disease gene894 Silent Substitution LUZP4 c.537G>A p.Q179Q 2 Recurrent X Specific Non Disease gene895 Missense Substitution MAGEA1 c.187G>A p.A63T 4 Recurrent X Specific Non Disease gene896 Missense Substitution MAGEA1 c.215G>A p.R72Q 13 Recurrent X Specific Non Disease gene897 Missense Substitution MAGEA1 c.94A>G p.T32A 41 Recurrent X Specific Non Disease gene898 Silent Substitution MAGEA1 c.354A>T p.R118R 2 Recurrent X Specific Non Disease gene899 Silent Substitution MAGEA11 c.747C>T p.L249L 99 Recurrent X Specific Non Disease gene900 Silent Substitution MAGEA12 c.807C>T p.Y269Y 1 Nonrecurrent X Specific Non Disease gene901 Silent Substitution MAGEA12 c.888A>G p.G296G 71 Recurrent X Specific Non Disease gene902 Mi S b i i MAGEA3 923T C V308A 38 R X S ifi N Di902 Missense Substitution MAGEA3 c.923T>C p.V308A 38 Recurrent X Specific Non Disease gene903 Missense Substitution MAGEA3 c.835G>A p.V279I 35 Recurrent X Specific Non Disease gene904 Missense Substitution MAGEA3 c.927G>T p.L309F 2 Recurrent X Specific Non Disease gene905 Missense Substitution MAGEA4 c.122C>T p.S41F 1 Nonrecurrent X Specific Non Disease gene906 Missense Substitution MAGEA4 c.806G>A p.R269H 1 Nonrecurrent X Specific Non Disease gene907 Missense Substitution MAGEA4 c.517G>A p.A173T 99 Recurrent X Specific Non Disease gene908 Silent Substitution MAGEA4 c.84A>G p.A28A 102 Recurrent X Specific Non Disease gene909 Silent Substitution MAGEA4 c.648C>T p.S216S 9 Recurrent X Specific Non Disease gene910 Missense Substitution MAGEA5 c.170G>A p.G57E 1 Nonrecurrent X Specific Non Disease gene911 Missense Substitution MAGEA5 c 185T>C p L62P 1 Nonrecurrent X Specific Non Disease gene911 Missense Substitution MAGEA5 c.185T>C p.L62P 1 Nonrecurrent X Specific Non Disease gene912 Missense Substitution MAGEA5 c.175C>G p.P59A 1 Nonrecurrent X Specific Non Disease gene913 Missense Substitution MAGEA5 c.187A>C p.K63Q 3 Recurrent X Specific Non Disease gene914 Missense Substitution MAGEA5 c.46C>G p.L16V 2 Recurrent X Specific Non Disease gene915 Missense Substitution MAGEA5 c.83T>C p.V28A 1 Nonrecurrent X Specific Non Disease gene916 Silent Substitution MAGEA5 c.12G>A p.E4E 1 Nonrecurrent X Specific Non Disease gene917 Silent Substitution MAGEA5 c.141A>T p.P47P 1 Nonrecurrent X Specific Non Disease gene918 Silent Substitution MAGEA5 c.156G>A p.E52E 4 Recurrent X Specific Non Disease gene919 Silent Substitution MAGEA5 c.207C>T p.S69S 2 Recurrent X Specific Non Disease gene920 Silent Substitution MAGEA8 c.918C>T p.S306S 1 Nonrecurrent X Specific Non Disease gene





924 Missense Substitution MAGEB1 c.589A>G p.R197G 3 Recurrent X Specific Non Disease gene925 Missense Substitution MAGEB18 c.194A>G p.Q65R 1 Nonrecurrent X Specific Non Disease genep p g926 Missense Substitution MAGEB18 c.118C>T p.P40S 21 Recurrent X Specific Non Disease gene927 Silent Substitution MAGEB18 c.930G>A p.E310E 1 Nonrecurrent X Specific Non Disease gene928 Silent Substitution MAGEB18 c.690C>T p.A230A 20 Recurrent X Specific Non Disease gene929 Missense Substitution MAGEB2 c.118T>A p.C40S 1 Nonrecurrent X Specific Non Disease gene930 Missense Substitution MAGEB2 c.181G>A p.E61K 185 Recurrent X Specific Non Disease gene931 Missense Substitution MAGEB2 c.698A>T p.Y233F 1 Nonrecurrent X Specific Non Disease gene932 Silent Substitution MAGEB2 c.820C>T p.L274L 1 Nonrecurrent X Specific Non Disease gene933 Silent Substitution MAGEB2 c.216G>A p.A72A 59 Recurrent X Specific Non Disease gene934 Silent Substitution MAGEB2 c.306C>T p.S102S 74 Recurrent X Specific Non Disease gene935 Missense Substitution MAGEB3 c 320G>A p R107H 58 Recurrent X Specific Non Disease gene935 Missense Substitution MAGEB3 c.320G>A p.R107H 58 Recurrent X Specific Non Disease gene936 Missense Substitution MAGEB3 c.335T>C p.I112T 138 Recurrent X Specific Non Disease gene937 Silent Substitution MAGEB3 c.489A>G p.V163V 56 Recurrent X Specific Non Disease gene938 Missense Substitution MAGEB4 c.653A>C p.E218A 1 Nonrecurrent X Specific Non Disease gene939 Missense Substitution MAGEB4 c.83G>A p.G28D 1 Nonrecurrent X Specific Non Disease gene940 Silent Substitution MAGEB4 c.354G>A p.Q118Q 1 Nonrecurrent X Specific Non Disease gene941 Silent Substitution MAGEB4 c.906G>C p.L302L 49 Recurrent X Specific Non Disease gene942 Silent Substitution MAGEB4 c.750A>G p.V250V 49 Recurrent X Specific Non Disease gene943 Missense Substitution MAGEB5 c.319T>C p.Y107H 1 Nonrecurrent X Specific Non Disease gene944 Missense Substitution MAGEB6 c.514G>C p.G172R 3 Recurrent X Specific Non Disease genep p g945 Missense Substitution MAGEB6 c.1187T>C p.I396T 1 Nonrecurrent X Specific Non Disease gene946 Missense Substitution MAGEB6 c.1162C>T p.P388S 3 Recurrent X Specific Non Disease gene947 Missense Substitution MAGEB6 c.299C>T p.A100V 9 Recurrent X Specific Non Disease gene948 Missense Substitution MAGEB6 c.293G>A p.R98H 5 Recurrent X Specific Non Disease gene949 Silent Substitution MAGEB6 c.219T>C p.P73P 1 Nonrecurrent X Specific Non Disease gene950 Silent Substitution MAGEB6 c.339C>G p.G113G 1 Nonrecurrent X Specific Non Disease gene951 Silent Substitution MAGEB6 c.138C>T p.R46R 1 Nonrecurrent X Specific Non Disease gene952 Silent Substitution MAGEB6 c.774C>T p.S258S 1 Nonrecurrent X Specific Non Disease gene953 Silent Substitution MAGEB6 c.342T>G p.S114S 9 Recurrent X Specific Non Disease gene954 Sil t S b tit ti MAGEB6 288C T T96T 17 R t X S ifi N Di954 Silent Substitution MAGEB6 c.288C>T p.T96T 17 Recurrent X Specific Non Disease gene955 Missense Substitution MAGEC1 c.2522G>T p.S841I 4 Recurrent X Specific Non Disease gene956 Missense Substitution MAGEC1 c.2749C>T p.R917W 5 Recurrent X Specific Non Disease gene957 Missense Substitution MAGEC1 c.1697A>G p.Q566R 6 Recurrent X Specific Non Disease gene958 Missense Substitution MAGEC1 c.3086G>A p.R1029H 1 Nonrecurrent X Specific Non Disease gene959 Missense Substitution MAGEC1 c.74G>A p.C25Y 29 Recurrent X Specific Non Disease gene960 Silent Substitution MAGEC1 c.267C>T p.G89G 1 Nonrecurrent X Specific Non Disease gene961 Silent Substitution MAGEC1 c.1629G>A p.L543L 1 Nonrecurrent X Specific Non Disease gene962 Silent Substitution MAGEC1 c.3174G>A p.E1058E 23 Recurrent X Specific Non Disease gene963 Ins/Del (in frame) MAGEC2 c.40 42delAAC p.N14 D15>D 1 Nonrecurrent X Specific Non Disease gene963 Ins/Del (in frame) MAGEC2 c.40_42delAAC p.N14_D15 D 1 Nonrecurrent X Specific Non Disease gene964 Missense Substitution MAGEC2 c.824C>G p.T275S 2 Recurrent X Specific Non Disease gene965 Silent Substitution MAGEC2 c.909G>A p.P303P 139 Recurrent X Specific Non Disease gene966 Missense Substitution MAGEC3 c.419A>T p.D140V 1 Nonrecurrent X Specific Non Disease gene967 Missense Substitution MAGEC3 c.1699G>T p.V567F 2 Recurrent X Specific Non Disease gene968 Missense Substitution MAGEC3 c.463T>C p.S155P 13 Recurrent X Specific Non Disease gene969 Missense Substitution MAGEC3 c.493T>A p.L165M 11 Recurrent X Specific Non Disease gene970 Missense Substitution MAGED1 c.1081C>T p.P361S 1 Nonrecurrent X Specific Non Disease gene971 Silent Substitution MAGED1 c.2197C>T p.L733L 1 Nonrecurrent X Specific Non Disease gene972 Silent Substitution MAGED1 c.2227C>A p.R743R 34 Recurrent X Specific Non Disease gene9 3 Sil S b i i MAGED2 624C T A208A 48 R X S ifi N Di973 Silent Substitution MAGED2 c.624C>T p.A208A 48 Recurrent X Specific Non Disease gene974 Silent Substitution MAGED2 c.396A>G p.T132T 68 Recurrent X Specific Non Disease gene975 Silent Substitution MAGED2 c.252A>G p.S84S 68 Recurrent X Specific Non Disease gene976 Silent Substitution MAGED2 c.1443G>A p.A481A 27 Recurrent X Specific Non Disease gene977 Silent Substitution MAGED2 c.981C>T p.S327S 68 Recurrent X Specific Non Disease gene978 Missense Substitution MAGEE1 c.913A>T p.S305C 1 Nonrecurrent X Specific Non Disease gene979 Missense Substitution MAGEE1 c.1017G>C p.E339D 1 Nonrecurrent X Specific Non Disease gene980 Silent Substitution MAGEE1 c.2499T>C p.P833P 1 Nonrecurrent X Specific Non Disease gene981 Silent Substitution MAGEE1 c.228A>C p.P76P 1 Nonrecurrent X Specific Non Disease gene982 Missense Substitution MAGEE2 c 562C>A p L188I 1 Nonrecurrent X Specific Non Disease gene982 Missense Substitution MAGEE2 c.562C>A p.L188I 1 Nonrecurrent X Specific Non Disease gene983 Missense Substitution MAGEE2 c.176C>A p.S59Y 1 Nonrecurrent X Specific Non Disease gene984 NonsenseSubstitution MAGEE2 c.358G>T p.E120* 9 Recurrent X Specific Non Disease gene985 Missense Substitution MAGEH1 c.206C>T p.S69L 1 Nonrecurrent X Specific Non Disease gene986 Missense Substitution MAGEH1 c.62A>C p.N21T 1 Nonrecurrent X Specific Non Disease gene987 Silent Substitution MAGEH1 c.492G>A p.G164G 45 Recurrent X Specific Non Disease gene988 Silent Substitution MAOA c.891G>T p.R297R 101 Recurrent X Specific XLMR gene989 Silent Substitution MAOA c.1410T>C p.D470D 64 Recurrent X Specific XLMR gene990 Silent Substitution MAOA c.385A>C p.R129R 10 Recurrent X Specific XLMR gene991 Missense Substitution MAOB c.326C>T p.P109L 1 Nonrecurrent X Specific Non Disease gene





995 Missense Substitution MAP3K15 c.2176C>G p.Q726E 2 Recurrent X Specific Non Disease gene996 NonsenseSubstitution MAP3K15 c.1069C>T p.R357* 1 Nonrecurrent X Specific Non Disease genep p g997 Silent Substitution MAP3K7IP3 c.90G>A p.Q30Q 1 Nonrecurrent X Specific Non Disease gene998 Missense Substitution MAP7D2 c.545A>G p.N182S 41 Recurrent X Specific Non Disease gene999 Silent Substitution MAP7D2 c.864A>G p.P288P 1 Nonrecurrent X Specific Non Disease gene

1000 Silent Substitution MAP7D2 c.2127C>T p.D709D 1 Nonrecurrent X Specific Non Disease gene1001 Silent Substitution MAP7D2 c.1062G>T p.P354P 2 Recurrent X Specific Non Disease gene1002 Missense Substitution MAP7D3 c.1763C>T p.P588L 2 Recurrent X Specific Non Disease gene1003 Missense Substitution MAP7D3 c.2156C>T p.A719V 1 Nonrecurrent X Specific Non Disease gene1004 Missense Substitution MAP7D3 c.3014G>A p.R1005Q 2 Recurrent X Specific Non Disease gene1005 Missense Substitution MAP7D3 c.1728G>A p.M576I 1 Nonrecurrent X Specific Non Disease gene1006 Missense Substitution MAP7D3 c 2774A>G p Q925R 96 Recurrent X Specific Non Disease gene1006 Missense Substitution MAP7D3 c.2774A>G p.Q925R 96 Recurrent X Specific Non Disease gene1007 Missense Substitution MAP7D3 c.449C>G p.S150C 1 Nonrecurrent X Specific Non Disease gene1008 Missense Substitution MAP7D3 c.2396A>C p.E799A 83 Recurrent X Specific Non Disease gene1009 Silent Substitution MAP7D3 c.468C>T p.I156I 1 Nonrecurrent X Specific Non Disease gene1010 Silent Substitution MAP7D3 c.1758G>A p.E586E 10 Recurrent X Specific Non Disease gene1011 Silent Substitution MAP7D3 c.387T>C p.F129F 2 Recurrent X Specific Non Disease gene1012 Silent Substitution MAP7D3 c.360G>A p.E120E 30 Recurrent X Specific Non Disease gene1013 Splice MAP7D3 IVS9+1 G>C 1 Nonrecurrent X Specific Non Disease gene1014 Missense Substitution MBNL3 c.364T>G p.S122A 1 Nonrecurrent X Specific Non Disease gene1015 Missense Substitution MCF2 c.1780A>G p.N594D 1 Nonrecurrent X Specific Non Disease genep p g1016 Missense Substitution MCF2 c.1004G>A p.R335H 1 Nonrecurrent X Specific Non Disease gene1017 Missense Substitution MCF2 c.1705C>T p.H569Y 9 Recurrent X Specific Non Disease gene1018 Silent Substitution MCF2 c.2241C>T p.D747D 1 Nonrecurrent X Specific Non Disease gene1019 Silent Substitution MCF2 c.1962A>T p.G654G 112 Recurrent X Specific Non Disease gene1020 Silent Substitution MECP2 c.582C>T p.S194S 2 Recurrent X Specific XLMR gene1021 Silent Substitution MECP2 c.897C>T p.T299T 2 Recurrent X Specific XLMR gene1022 Missense Substitution MED12 c.4C>T p.R2W 1 Nonrecurrent X Specific XLMR gene1023 Missense Substitution MED12 c.3425G>A p.R1142H 1 Nonrecurrent X Specific XLMR gene1024 Missense Substitution MED12 c.2561A>G p.N854S 1 Nonrecurrent X Specific XLMR gene1025 Sil t S b tit ti MED12 3471A C P1157P 54 R t X S ifi XLMR1025 Silent Substitution MED12 c.3471A>C p.P1157P 54 Recurrent X Specific XLMR gene1026 Silent Substitution MED12 c.5076C>T p.N1692N 2 Recurrent X Specific XLMR gene1027 Missense Substitution CT45A5 c.374A>T p.D125V 1 Nonrecurrent X Specific Non Disease gene1028 Missense Substitution CT45A5 c.290A>T p.N97I 3 Recurrent X Specific Non Disease gene1029 Missense Substitution CT45A5 c.247G>A p.G83R 6 Recurrent X Specific Non Disease gene1030 Missense Substitution CT45A5 c.311G>A p.G104E 1 Nonrecurrent X Specific Non Disease gene1031 Missense Substitution CT45A5 c.254T>G p.M85R 5 Recurrent X Specific Non Disease gene1032 Missense Substitution CT45A5 c.184C>G p.H62D 16 Recurrent X Specific Non Disease gene1033 Missense Substitution CT45A5 c.262C>T p.P88S 6 Recurrent X Specific Non Disease gene1034 Missense Substitution CT45A5 c.188C>G p.A63G 12 Recurrent X Specific Non Disease gene1034 Missense Substitution CT45A5 c.188C G p.A63G 12 Recurrent X Specific Non Disease gene1035 Missense Substitution CT45A5 c.302A>G p.N101S 1 Nonrecurrent X Specific Non Disease gene1036 Missense Substitution CT45A5 c.272A>G p.N91S 5 Recurrent X Specific Non Disease gene1037 Missense Substitution CT45A5 c.416G>A p.R139Q 1 Nonrecurrent X Specific Non Disease gene1038 Missense Substitution CT45A5 c.388G>T p.V130L 11 Recurrent X Specific Non Disease gene1039 Missense Substitution CT45A5 c.358C>G p.Q120E 10 Recurrent X Specific Non Disease gene1040 Missense Substitution CT45A5 c.409C>A p.L137I 9 Recurrent X Specific Non Disease gene1041 Silent Substitution CT45A5 c.291T>C p.N97N 136 Recurrent X Specific Non Disease gene1042 Silent Substitution MID1 c.861G>A p.G287G 1 Nonrecurrent X Specific XLMR gene1043 Silent Substitution MID1 c.1917C>T p.P639P 1 Nonrecurrent X Specific XLMR gene1044 Sil S b i i MID1 1230C T S410S 3 R X S ifi XLMR1044 Silent Substitution MID1 c.1230C>T p.S410S 3 Recurrent X Specific XLMR gene1045 Missense Substitution MID2 c.1073C>A p.A358D 9 Recurrent X Specific Non Disease gene1046 Missense Substitution MID2 c.1769A>C p.K590T 1 Nonrecurrent X Specific Non Disease gene1047 Silent Substitution MID2 c.120A>C p.S40S 7 Recurrent X Specific Non Disease gene1048 Missense Substitution MORC4 c.508G>A p.V170M 1 Nonrecurrent X Specific Non Disease gene1049 Missense Substitution MORC4 c.1639G>A p.A547T 2 Recurrent X Specific Non Disease gene1050 Missense Substitution MORC4 c.446A>G p.N149S 4 Recurrent X Specific Non Disease gene1051 Missense Substitution MPP1 c.200G>A p.R67Q 1 Nonrecurrent X Specific Non Disease gene1052 Silent Substitution MPP1 c.822C>T p.V274V 1 Nonrecurrent X Specific Non Disease gene1053 Silent Substitution MPP1 c 546G>A p A182A 1 Nonrecurrent X Specific Non Disease gene1053 Silent Substitution MPP1 c.546G>A p.A182A 1 Nonrecurrent X Specific Non Disease gene1054 Silent Substitution MPP1 c.255G>T p.T85T 147 Recurrent X Specific Non Disease gene1055 Missense Substitution MSL3L1 c.1094G>A p.S365N 1 Nonrecurrent X Specific Non Disease gene1056 Silent Substitution MSL3L1 c.768G>A p.E256E 1 Nonrecurrent X Specific Non Disease gene1057 Silent Substitution MSN c.528T>C p.H176H 3 Recurrent X Specific Non Disease gene1058 Missense Substitution MTM1 c.899C>T p.A300V 1 Nonrecurrent X Specific XLMR gene1059 Silent Substitution MTM1 c.1701C>T p.Y567Y 1 Nonrecurrent X Specific XLMR gene1060 Silent Substitution MTMR1 c.1902C>T p.G634G 109 Recurrent X Specific Non Disease gene1061 Missense Substitution MTMR8 c.217C>T p.R73C 1 Nonrecurrent X Specific Non Disease gene1062 Missense Substitution MTMR8 c.130G>A p.A44T 1 Nonrecurrent X Specific Non Disease gene





1066 Silent Substitution MUM1L1 c.579C>T p.C193C 2 Recurrent X Specific Non Disease gene1067 Missense Substitution MXRA5 c.2480C>G p.P827R 1 Nonrecurrent X Specific Non Disease genep p g1068 Missense Substitution MXRA5 c.5657C>T p.T1886I 1 Nonrecurrent X Specific Non Disease gene1069 Missense Substitution MXRA5 c.5735C>G p.T1912S 1 Nonrecurrent X Specific Non Disease gene1070 Missense Substitution MXRA5 c.4788T>A p.D1596E 1 Nonrecurrent X Specific Non Disease gene1071 Missense Substitution MXRA5 c.8100G>C p.E2700D 19 Recurrent X Specific Non Disease gene1072 Missense Substitution MXRA5 c.1387A>G p.I463V 2 Recurrent X Specific Non Disease gene1073 Missense Substitution MXRA5 c.664G>A p.D222N 3 Recurrent X Specific Non Disease gene1074 Missense Substitution MXRA5 c.5611A>G p.T1871A 1 Nonrecurrent X Specific Non Disease gene1075 Missense Substitution MXRA5 c.3383C>T p.A1128V 114 Recurrent X Specific Non Disease gene1076 Missense Substitution MXRA5 c.5998G>A p.G2000S 77 Recurrent X Specific Non Disease gene1077 Missense Substitution MXRA5 c 2249C>T p S750L 1 Nonrecurrent X Specific Non Disease gene1077 Missense Substitution MXRA5 c.2249C>T p.S750L 1 Nonrecurrent X Specific Non Disease gene1078 Missense Substitution MXRA5 c.3281C>T p.T1094I 1 Nonrecurrent X Specific Non Disease gene1079 Silent Substitution MXRA5 c.3747C>T p.S1249S 20 Recurrent X Specific Non Disease gene1080 Silent Substitution MXRA5 c.3933G>A p.E1311E 1 Nonrecurrent X Specific Non Disease gene1081 Silent Substitution MXRA5 c.8310G>A p.P2770P 1 Nonrecurrent X Specific Non Disease gene1082 Silent Substitution MXRA5 c.2016G>A p.G672G 1 Nonrecurrent X Specific Non Disease gene1083 Silent Substitution MXRA5 c.8148G>A p.E2716E 7 Recurrent X Specific Non Disease gene1084 Silent Substitution MXRA5 c.1935C>T p.D645D 119 Recurrent X Specific Non Disease gene1085 Silent Substitution MXRA5 c.1638G>A p.E546E 2 Recurrent X Specific Non Disease gene1086 Silent Substitution MXRA5 c.2409A>G p.P803P 142 Recurrent X Specific Non Disease genep p g1087 Silent Substitution MXRA5 c.2442T>C p.S814S 120 Recurrent X Specific Non Disease gene1088 Silent Substitution MXRA5 c.5559A>C p.P1853P 83 Recurrent X Specific Non Disease gene1089 Silent Substitution MXRA5 c.5694G>A p.P1898P 11 Recurrent X Specific Non Disease gene1090 Ins/Del (in frame) NAP1L2 c.660_663delGAG p.E660_E661>D 1 Nonrecurrent X Specific Non Disease gene1091 Ins/Del (in frame) NAP1L3 c.190_195delAGCAGC p.S64_S65delSS 1 Nonrecurrent X Specific Non Disease gene1092 Missense Substitution NAP1L3 c.670C>G p.P224A 127 Recurrent X Specific Non Disease gene1093 Missense Substitution NAP1L3 c.926A>G p.K309R 1 Nonrecurrent X Specific Non Disease gene1094 Missense Substitution NAP1L6 c.80C>T p.P27L 1 Nonrecurrent X Specific Non Disease gene1095 Missense Substitution NCBP2L c.509T>C p.L170P 18 Recurrent X Specific Non Disease gene1096 Sil t S b tit ti NCBP2L 522T C Y174Y 1 N t X S ifi N Di1096 Silent Substitution NCBP2L c.522T>C p.Y174Y 1 Nonrecurrent X Specific Non Disease gene1097 Silent Substitution NCBP2L c.843G>T p.S281S 16 Recurrent X Specific Non Disease gene1098 Silent Substitution NCBP2L c.1209C>A p.V403V 19 Recurrent X Specific Non Disease gene1099 Silent Substitution NDUFA1 c.141G>C p.L47L 3 Recurrent X Specific XLMR gene1100 NonsenseSubstitution NDUFA1 c.901C>T p.Q301* 1 Nonrecurrent X Specific XLMR gene1101 Missense Substitution NHS c.2267T>C p.F756S 1 Nonrecurrent X Specific XLMR gene1102 Missense Substitution NHS c.1651C>T p.P551S 3 Recurrent X Specific XLMR gene1103 Missense Substitution NHS c.2530G>A p.A844T 1 Nonrecurrent X Specific XLMR gene1104 Missense Substitution NHS c.3955T>C p.F1319L 9 Recurrent X Specific XLMR gene1105 Missense Substitution NHS c.3866G>T p.G1289V 1 Nonrecurrent X Specific XLMR gene1105 Missense Substitution NHS c.3866G T p.G1289V 1 Nonrecurrent X Specific XLMR gene1106 Silent Substitution NHS c.765C>G p.P255P 1 Nonrecurrent X Specific XLMR gene1107 Silent Substitution NHS c.2418G>A p.Q806Q 1 Nonrecurrent X Specific XLMR gene1108 Silent Substitution NHS c.3141A>G p.L1047L 2 Recurrent X Specific XLMR gene1109 Silent Substitution NHS c.3138T>C p.S1046S 2 Recurrent X Specific XLMR gene1110 Silent Substitution NKRF c.156T>C p.H52H 2 Recurrent X Specific Non Disease gene1111 Silent Substitution NLGN3 c.747C>T p.S249S 1 Nonrecurrent X Specific XLMR gene1112 Missense Substitution NLGN4X c.2388C>A p.N796K 1 Nonrecurrent X Specific XLMR gene1113 Missense Substitution NLGN4X c.2360C>T p.T787M 26 Recurrent X Specific XLMR gene1114 Missense Substitution NLGN4X c.2164G>A p.A722T 22 Recurrent X Specific XLMR gene111 Mi S b i i NLGN4X 1 C T L 93F 1 N X S ifi XLMR1115 Missense Substitution NLGN4X c.1777C>T p.L593F 1 Nonrecurrent X Specific XLMR gene1116 Missense Substitution NLGN4X c.2317C>T p.L773F 22 Recurrent X Specific XLMR gene1117 Silent Substitution NLGN4X c.933C>T p.T311T 41 Recurrent X Specific XLMR gene1118 Silent Substitution NLGN4X c.2356C>T p.L786L 1 Nonrecurrent X Specific XLMR gene1119 Silent Substitution NLGN4X c.2253A>G p.T751T 17 Recurrent X Specific XLMR gene1120 Silent Substitution NLGN4X c.1779C>G p.L593L 1 Nonrecurrent X Specific XLMR gene1121 Ins/Del (in frame) NOX1 c.555_557delCTT p.F185_L186>L 93 Recurrent X Specific Non Disease gene1122 Missense Substitution NP_689795 c.359A>G p.Q120R 144 Recurrent X Specific Non Disease gene1123 Silent Substitution NR0B1 c.498G>A p.R166R 28 Recurrent X Specific Non Disease gene1124 Silent Substitution NR0B1 c 114C>T p C38C 34 Recurrent X Specific Non Disease gene1124 Silent Substitution NR0B1 c.114C>T p.C38C 34 Recurrent X Specific Non Disease gene1125 Missense Substitution NRK c.2230C>A p.Q744K 1 Nonrecurrent X Specific Non Disease gene1126 Missense Substitution NRK c.4495G>A p.D1499N 1 Nonrecurrent X Specific Non Disease gene1127 Missense Substitution NRK c.1072G>A p.V358M 50 Recurrent X Specific Non Disease gene1128 Missense Substitution NRK c.3044C>T p.A1015V 1 Nonrecurrent X Specific Non Disease gene1129 Missense Substitution NRK c.2912A>G p.D971G 1 Nonrecurrent X Specific Non Disease gene1130 Missense Substitution NRK c.2779A>G p.S927G 1 Nonrecurrent X Specific Non Disease gene1131 Silent Substitution NRK c.4206A>G p.V1402V 1 Nonrecurrent X Specific Non Disease gene1132 Missense Substitution NSBP1 c.23G>T p.G8V 1 Nonrecurrent X Specific Non Disease gene1133 Silent Substitution NSDHL c.132T>G p.G44G 48 Recurrent X Specific Disease gene





1137 Missense Substitution NUP62CL c.216G>C p.M72I 1 Nonrecurrent X Specific Non Disease gene1138 Silent Substitution NUP62CL c.477T>C p.R159R 8 Recurrent X Specific Non Disease genep p g1139 Silent Substitution NUP62CL c.426A>G p.S142S 3 Recurrent X Specific Non Disease gene1140 Silent Substitution NXF3 c.318G>A p.P106P 1 Nonrecurrent X Specific Non Disease gene1141 Silent Substitution NXF3 c.150T>C p.D50D 1 Nonrecurrent X Specific Non Disease gene1142 Missense Substitution NXF5 c.67A>G p.K23E 5 Recurrent X Specific XLMR gene1143 Silent Substitution NXF5 c.1191A>G p.S397S 27 Recurrent X Specific XLMR gene1144 Missense Substitution ODZ1 c.5450G>T p.R1817L 1 Nonrecurrent X Specific Non Disease gene1145 Missense Substitution ODZ1 c.6560A>T p.H2187L 1 Nonrecurrent X Specific Non Disease gene1146 Missense Substitution ODZ1 c.8030C>T p.A2677V 1 Nonrecurrent X Specific Non Disease gene1147 Missense Substitution ODZ1 c.3709C>T p.P1237S 1 Nonrecurrent X Specific Non Disease gene1148 Missense Substitution ODZ1 c 1118T>C p M373T 4 Recurrent X Specific Non Disease gene1148 Missense Substitution ODZ1 c.1118T>C p.M373T 4 Recurrent X Specific Non Disease gene1149 Silent Substitution ODZ1 c.5355G>A p.S1785S 1 Nonrecurrent X Specific Non Disease gene1150 Silent Substitution ODZ1 c.5982T>C p.Y1994Y 1 Nonrecurrent X Specific Non Disease gene1151 Silent Substitution ODZ1 c.1122C>T p.D374D 1 Nonrecurrent X Specific Non Disease gene1152 Silent Substitution ODZ1 c.6492T>G p.V2164V 1 Nonrecurrent X Specific Non Disease gene1153 Silent Substitution ODZ1 c.5544A>G p.S1848S 21 Recurrent X Specific Non Disease gene1154 Silent Substitution ODZ1 c.4992C>A p.T1664T 71 Recurrent X Specific Non Disease gene1155 Silent Substitution ODZ1 c.4482A>G p.A1494A 29 Recurrent X Specific Non Disease gene1156 Silent Substitution ODZ1 c.39A>G p.P13P 3 Recurrent X Specific Non Disease gene1157 Silent Substitution ODZ1 c.3192G>T p.V1064V 2 Recurrent X Specific Non Disease genep p g1158 Missense Substitution OFD1 c.535A>T p.I179F 2 Recurrent X Specific XLMR gene1159 Silent Substitution OFD1 c.714T>C p.Y238Y 1 Nonrecurrent X Specific XLMR gene1160 Missense Substitution OGT c.1678A>G p.T560A 1 Nonrecurrent X Specific Non Disease gene1161 Silent Substitution OGT c.1470T>C p.N490N 1 Nonrecurrent X Specific Non Disease gene1162 Silent Substitution OGT c.1743T>C p.Y581Y 1 Nonrecurrent X Specific Non Disease gene1163 Silent Substitution OGT c.2811A>G p.P937P 1 Nonrecurrent X Specific Non Disease gene1164 Missense Substitution OPHN1 c.1955C>T p.S652F 1 Nonrecurrent X Specific XLMR gene1165 Missense Substitution OPHN1 c.434T>C p.L145P 1 Nonrecurrent X Specific XLMR gene1166 Missense Substitution OPHN1 c.2168A>G p.D723G 1 Nonrecurrent X Specific XLMR gene1167 Mi S b tit ti OPHN1 115G A V39I 12 R t X S ifi XLMR1167 Missense Substitution OPHN1 c.115G>A p.V39I 12 Recurrent X Specific XLMR gene1168 Missense Substitution OTC c.809A>G p.Q270R 7 Recurrent X Specific XLMR gene1169 Missense Substitution OTC c.137A>G p.K46R 33 Recurrent X Specific XLMR gene1170 Missense Substitution OTC c.863T>G p.M288R 1 Nonrecurrent X Specific XLMR gene1171 Silent Substitution OTC c.387T>A p.R129R 1 Nonrecurrent X Specific XLMR gene1172 Missense Substitution P2RY10 c.7A>C p.N3H 5 Recurrent X Specific Non Disease gene1173 Missense Substitution P2RY4 c.739A>G p.I247V 5 Recurrent X Specific Non Disease gene1174 Missense Substitution P2RY4 c.700T>G p.S234A 10 Recurrent X Specific Non Disease gene1175 Missense Substitution P2RY4 c.1054C>A p.P352T 6 Recurrent X Specific Non Disease gene1176 Missense Substitution P2RY4 c.533A>C p.N178T 27 Recurrent X Specific Non Disease gene1176 Missense Substitution P2RY4 c.533A C p.N178T 27 Recurrent X Specific Non Disease gene1177 Silent Substitution P2RY4 c.726C>A p.R242R 11 Recurrent X Specific Non Disease gene1178 NonsenseSubstitution P2RY4 c.1043G>A p.W348* 1 Nonrecurrent X Specific Non Disease gene1179 Silent Substitution P2RY8 c.54G>A p.R18R 1 Nonrecurrent PAR Non Disease gene1180 Silent Substitution P2RY8 c.141G>C p.V47V 1 Nonrecurrent PAR Non Disease gene1181 Missense Substitution PABPC5 c.151C>G p.R51G 2 Recurrent X Specific Non Disease gene1182 Silent Substitution PAGE1 c.168G>A p.G56G 2 Recurrent X Specific Non Disease gene1183 Silent Substitution PAGE1 c.87C>T p.D29D 7 Recurrent X Specific Non Disease gene1184 Missense Substitution PAGE3 c.103A>G p.N35D 125 Recurrent X Specific Non Disease gene1185 Silent Substitution PAGE3 c.255A>C p.G85G 50 Recurrent X Specific Non Disease gene1186 I /D l (i f ) PASD1 lAGCGGCAGCTGCGGGAGCAGC 1 N X S ifi N Di1186 Ins/Del (in frame) PASD1 elAGCGGCAGCTGCGGGAGCAGC p 1 Nonrecurrent X Specific Non Disease gene1187 Ins/Del (in frame) PASD1 delATGGACCAGCAGGACCCA p.M32 1 Nonrecurrent X Specific Non Disease gene1188 Missense Substitution PASD1 c.1878A>C p.Q626H 1 Nonrecurrent X Specific Non Disease gene1189 Missense Substitution PASD1 c.1525G>A p.V509M 7 Recurrent X Specific Non Disease gene1190 Missense Substitution PASD1 c.584T>C p.V195A 1 Nonrecurrent X Specific Non Disease gene1191 Silent Substitution PASD1 c.513A>C p.G171G 1 Nonrecurrent X Specific Non Disease gene1192 Silent Substitution PASD1 c.606G>A p.E202E 4 Recurrent X Specific Non Disease gene1193 Silent Substitution PASD1 c.513A>G p.G171G 37 Recurrent X Specific Non Disease gene1194 Silent Substitution PASD1 c.522C>T p.C174C 38 Recurrent X Specific Non Disease gene1195 Silent Substitution PASD1 c 915G>A p E305E 3 Recurrent X Specific Non Disease gene1195 Silent Substitution PASD1 c.915G>A p.E305E 3 Recurrent X Specific Non Disease gene1196 Silent Substitution PASD1 c.1371T>C p.G457G 28 Recurrent X Specific Non Disease gene1197 Missense Substitution PCDH11X c.3053G>A p.R1018Q 4 Recurrent X Specific Non Disease gene1198 Missense Substitution PCDH19 c.813C>G p.H271Q 1 Nonrecurrent X Specific Non Disease gene1199 Missense Substitution PCDH19 c.1232G>A p.R411Q 1 Nonrecurrent X Specific Non Disease gene1200 Silent Substitution PCDH19 c.186G>A p.P62P 1 Nonrecurrent X Specific Non Disease gene1201 Silent Substitution PCDH19 c.1377C>T p.D459D 1 Nonrecurrent X Specific Non Disease gene1202 Silent Substitution PCDH19 c.130C>T p.L44L 41 Recurrent X Specific Non Disease gene1203 Silent Substitution PCTK1 c.636G>A p.V212V 1 Nonrecurrent X Specific Non Disease gene1204 Silent Substitution PCYT1B c.609G>A p.S203S 1 Nonrecurrent X Specific Non Disease gene





1208 Missense Substitution PDK3 c.376A>G p.M126V 1 Nonrecurrent X Specific Non Disease gene1209 Silent Substitution PDK3 c.336G>C p.L112L 1 Nonrecurrent X Specific Non Disease genep p g1210 Missense Substitution PFKFB1 c.122C>T p.S41F 1 Nonrecurrent X Specific Non Disease gene1211 Missense Substitution PGAM4 c.37G>A p.E13K 1 Nonrecurrent X Specific Non Disease gene1212 Missense Substitution PGAM4 c.257G>A p.R86H 10 Recurrent X Specific Non Disease gene1213 Missense Substitution PGK1 c.241G>T p.V81F 2 Recurrent X Specific XLMR gene1214 Missense Substitution PGK1 c.674A>G p.N225S 1 Nonrecurrent X Specific XLMR gene1215 Missense Substitution PGK1 c.914C>G p.S305C 1 Nonrecurrent X Specific XLMR gene1216 Missense Substitution PGK1 c.183G>A p.M61I 1 Nonrecurrent X Specific XLMR gene1217 Missense Substitution PGRMC1 c.574C>T p.R192W 1 Nonrecurrent X Specific Non Disease gene1218 Missense Substitution PGRMC1 c.494A>G p.H165R 2 Recurrent X Specific Non Disease gene1219 Missense Substitution PHF16 c 2236T>C p F746L 4 Recurrent X Specific Non Disease gene1219 Missense Substitution PHF16 c.2236T>C p.F746L 4 Recurrent X Specific Non Disease gene1220 Missense Substitution PHF16 c.2042A>G p.D681G 1 Nonrecurrent X Specific Non Disease gene1221 Missense Substitution PHF8 c.2720G>A p.R907H 1 Nonrecurrent X Specific XLMR gene1222 Silent Substitution PHF8 c.1140C>T p.R380R 1 Nonrecurrent X Specific XLMR gene1223 Silent Substitution PHF8 c.441T>G p.V147V 4 Recurrent X Specific XLMR gene1224 Silent Substitution PHKA1 c.429C>T p.L143L 3 Recurrent X Specific Disease gene1225 Missense Substitution PHKA2 c.112G>C p.E38Q 2 Recurrent X Specific Disease gene1226 Missense Substitution PHKA2 c.3388C>T p.R1130C 1 Nonrecurrent X Specific Disease gene1227 Missense Substitution PHKA2 c.1952C>A p.T651N 1 Nonrecurrent X Specific Disease gene1228 Missense Substitution PHKA2 c.2077A>G p.I693V 1 Nonrecurrent X Specific Disease genep p g1229 Silent Substitution PHKA2 c.2532G>A p.L844L 1 Nonrecurrent X Specific Disease gene1230 Silent Substitution PHKA2 c.3132G>A p.S1044S 1 Nonrecurrent X Specific Disease gene1231 Silent Substitution PHKA2 c.2157G>A p.P719P 1 Nonrecurrent X Specific Disease gene1232 Silent Substitution PHKA2 c.742A>C p.R248R 1 Nonrecurrent X Specific Disease gene1233 Silent Substitution PHKA2 c.2436G>A p.G812G 2 Recurrent X Specific Disease gene1234 Missense Substitution PIGA c.613G>A p.V205I 1 Nonrecurrent X Specific Disease gene1235 Silent Substitution PIM2 c.870C>T p.A290A 2 Recurrent X Specific Non Disease gene1236 Missense Substitution PIN4 c.47G>A p.R16Q 15 Recurrent X Specific Non Disease gene1237 Missense Substitution PIN4 c.54C>A p.S18R 15 Recurrent X Specific Non Disease gene1238 Sil t S b tit ti PIN4 279C T A93A 4 R t X S ifi N Di1238 Silent Substitution PIN4 c.279C>T p.A93A 4 Recurrent X Specific Non Disease gene1239 Silent Substitution PIN4 c.444T>C p.H148H 3 Recurrent X Specific Non Disease gene1240 Silent Substitution PIR c.681G>A p.Q227Q 18 Recurrent X Specific Non Disease gene1241 Missense Substitution PJA1 c.1254G>T p.E418D 43 Recurrent X Specific Non Disease gene1242 Missense Substitution PJA1 c.1353C>G p.F451L 1 Nonrecurrent X Specific Non Disease gene1243 Silent Substitution PJA1 c.246C>T p.S82S 38 Recurrent X Specific Non Disease gene1244 Missense Substitution PJA1 c.731G>A p.S244N 24 Recurrent X Specific Non Disease gene1245 Silent Substitution PJA1 c.606C>T p.G202G 10 Recurrent X Specific Non Disease gene1246 Missense Substitution PLCXD1 c.236C>G p.P79R 2 Recurrent PAR Non Disease gene1247 Missense Substitution PLCXD1 c.137A>G p.D46G 2 Recurrent PAR Non Disease gene1247 Missense Substitution PLCXD1 c.137A G p.D46G 2 Recurrent PAR Non Disease gene1248 Missense Substitution PLCXD1 c.512T>C p.I171T 1 Nonrecurrent PAR Non Disease gene1249 Missense Substitution PLCXD1 c.914G>T p.G305V 30 Recurrent PAR Non Disease gene1250 Missense Substitution PLCXD1 c.944C>T p.A315V 1 Nonrecurrent PAR Non Disease gene1251 Missense Substitution PLCXD1 c.380C>T p.T127M 1 Nonrecurrent PAR Non Disease gene1252 Missense Substitution PLCXD1 c.928G>A p.V310I 1 Nonrecurrent PAR Non Disease gene1253 Silent Substitution PLCXD1 c.684C>G p.T228T 1 Nonrecurrent PAR Non Disease gene1254 Silent Substitution PLCXD1 c.837G>T p.R279R 1 Nonrecurrent PAR Non Disease gene1255 Silent Substitution PLCXD1 c.798C>T p.S266S 1 Nonrecurrent PAR Non Disease gene1256 Silent Substitution PLCXD1 c.312C>T p.D104D 57 Recurrent PAR Non Disease gene12 Sil S b i i PLP1 4 9G A V1 3V 1 N X S ifi XLMR1257 Silent Substitution PLP1 c.459G>A p.V153V 1 Nonrecurrent X Specific XLMR gene1258 Silent Substitution PLP1 c.609T>C p.D203D 61 Recurrent X Specific XLMR gene1259 Missense Substitution PLP2 c.16C>T p.R6C 2 Recurrent X Specific Non Disease gene1260 Silent Substitution PLS3 c.321T>A p.G107G 1 Nonrecurrent X Specific Non Disease gene1261 Silent Substitution PLS3 c.1476C>G p.T492T 1 Nonrecurrent X Specific Non Disease gene1262 Silent Substitution PLS3 c.1545T>C p.D515D 1 Nonrecurrent X Specific Non Disease gene1263 Silent Substitution PLS3 c.1294T>C p.L432L 7 Recurrent X Specific Non Disease gene1264 Silent Substitution PLS3 c.1242T>C p.P414P 7 Recurrent X Specific Non Disease gene1265 Missense Substitution PLXNA3 c.3520C>A p.L1174I 1 Nonrecurrent X Specific Non Disease gene1266 Missense Substitution PLXNA3 c 1298G>A p R433H 3 Recurrent X Specific Non Disease gene1266 Missense Substitution PLXNA3 c.1298G>A p.R433H 3 Recurrent X Specific Non Disease gene1267 Missense Substitution PLXNA3 c.2589C>G p.D863E 9 Recurrent X Specific Non Disease gene1268 Silent Substitution PLXNA3 c.5373T>C p.Y1791Y 1 Nonrecurrent X Specific Non Disease gene1269 Silent Substitution PLXNA3 c.4077C>T p.R1359R 1 Nonrecurrent X Specific Non Disease gene1270 Silent Substitution PLXNA3 c.2901A>G p.T967T 1 Nonrecurrent X Specific Non Disease gene1271 Silent Substitution PLXNA3 c.3723G>C p.A1241A 19 Recurrent X Specific Non Disease gene1272 Silent Substitution PLXNA3 c.2289C>T p.F763F 10 Recurrent X Specific Non Disease gene1273 Silent Substitution PLXNA3 c.3462G>T p.A1154A 2 Recurrent X Specific Non Disease gene1274 Silent Substitution PLXNA3 c.1167G>A p.L389L 2 Recurrent X Specific Non Disease gene1275 Silent Substitution PLXNA3 c.933G>A p.P311P 2 Recurrent X Specific Non Disease gene





1279 Silent Substitution PLXNB3 c.1209C>T p.L403L 2 Recurrent X Specific Non Disease gene1280 Missense Substitution PNMA3 c.1130T>C p.V377A 166 Recurrent X Specific Non Disease genep p g1281 Silent Substitution PNMA3 c.777G>A p.E259E 1 Nonrecurrent X Specific Non Disease gene1282 Missense Substitution PNMA5 c.889G>A p.A297T 4 Recurrent X Specific Non Disease gene1283 Silent Substitution PNMA5 c.1164A>G p.P388P 13 Recurrent X Specific Non Disease gene1284 Missense Substitution PNMA6A c.1124T>G p.L375R 1 Nonrecurrent X Specific Non Disease gene1285 Missense Substitution PNPLA4 c.575C>T p.P192L 1 Nonrecurrent X Specific Non Disease gene1286 Missense Substitution PNPLA4 c.484G>A p.V162M 1 Nonrecurrent X Specific Non Disease gene1287 Silent Substitution PNPLA4 c.243A>G p.V81V 1 Nonrecurrent X Specific Non Disease gene1288 Missense Substitution POF1B c.986G>A p.R329Q 1 Nonrecurrent X Specific Disease gene1289 Missense Substitution POF1B c.716G>C p.C239S 1 Nonrecurrent X Specific Disease gene1290 Missense Substitution POF1B c 1045A>T p M349L 23 Recurrent X Specific Disease gene1290 Missense Substitution POF1B c.1045A>T p.M349L 23 Recurrent X Specific Disease gene1291 Silent Substitution POF1B c.1383G>A p.T461T 2 Recurrent X Specific Disease gene1292 Missense Substitution POLA1 c.3604G>C p.D1202H 1 Nonrecurrent X Specific Non Disease gene1293 Missense Substitution POLA1 c.2799C>G p.D933E 1 Nonrecurrent X Specific Non Disease gene1294 Silent Substitution POLA1 c.813G>A p.K271K 1 Nonrecurrent X Specific Non Disease gene1295 Silent Substitution POLA1 c.4338C>T p.Y1446Y 4 Recurrent X Specific Non Disease gene1296 Silent Substitution POLA1 c.3699C>A p.V1233V 13 Recurrent X Specific Non Disease gene1297 Missense Substitution POU3F4 c.733A>G p.M245V 2 Recurrent X Specific Disease gene1298 Silent Substitution POU3F4 c.471C>T p.A157A 1 Nonrecurrent X Specific Disease gene1299 Missense Substitution PPEF1 c.1327G>A p.G443S 17 Recurrent X Specific Non Disease genep p g1300 Missense Substitution PPP1R3F c.1384T>G p.S462A 1 Nonrecurrent X Specific Non Disease gene1301 Missense Substitution PPP1R3F c.1399G>A p.G467R 1 Nonrecurrent X Specific Non Disease gene1302 Missense Substitution PPP1R3F c.794A>G p.Y265C 1 Nonrecurrent X Specific Non Disease gene1303 Silent Substitution PPP1R3F c.2313C>T p.A771A 1 Nonrecurrent X Specific Non Disease gene1304 Silent Substitution PPP1R3F c.2136C>T p.A712A 1 Nonrecurrent X Specific Non Disease gene1305 Missense Substitution PPP2R3B c.457G>A p.A153T 12 Recurrent PAR Non Disease gene1306 Missense Substitution PPP2R3B c.1667C>T p.P556L 1 Nonrecurrent PAR Non Disease gene1307 Missense Substitution PPP2R3B c.1556C>T p.A519V 1 Nonrecurrent PAR Non Disease gene1308 Silent Substitution PPP2R3B c.525C>T p.P175P 1 Nonrecurrent PAR Non Disease gene1309 Sil t S b tit ti PPP2R3B 1698A G A566A 12 R t PAR N Di1309 Silent Substitution PPP2R3B c.1698A>G p.A566A 12 Recurrent PAR Non Disease gene1310 Silent Substitution PPP2R3B c.393C>T p.P131P 13 Recurrent PAR Non Disease gene1311 Silent Substitution PPP2R3B c.489T>C p.D163D 42 Recurrent PAR Non Disease gene1312 Silent Substitution PPP2R3B c.1392T>C p.A464A 4 Recurrent PAR Non Disease gene1313 Ins/Del (in frame) PQBP1 lAGGGGCCATGACAAGTCGGAC p.G 1 Nonrecurrent X Specific XLMR gene1314 Missense Substitution PQBP1 c.19C>G p.L7V 1 Nonrecurrent X Specific XLMR gene1315 Silent Substitution PRDX4 c.579G>A p.E193E 1 Nonrecurrent X Specific Non Disease gene1316 Silent Substitution PRKX c.249C>T p.P83P 95 Recurrent X Specific Non Disease gene1317 Silent Substitution PRPS1 c.477C>T p.I159I 1 Nonrecurrent X Specific XLMR gene1318 Silent Substitution PRPS1 c.942C>T p.S314S 1 Nonrecurrent X Specific XLMR gene1318 Silent Substitution PRPS1 c.942C T p.S314S 1 Nonrecurrent X Specific XLMR gene1319 Silent Substitution PRPS2 c.45G>A p.L15L 39 Recurrent X Specific Non Disease gene1320 Missense Substitution PRRG1 c.595A>G p.I199V 1 Nonrecurrent X Specific Non Disease gene1321 Missense Substitution PRRG1 c.49C>T p.R17C 1 Nonrecurrent X Specific Non Disease gene1322 Silent Substitution PRRG1 c.369T>G p.P123P 2 Recurrent X Specific Non Disease gene1323 Missense Substitution PRRG3 c.458A>G p.N153S 177 Recurrent X Specific Non Disease gene1324 Missense Substitution PRRG3 c.464C>T p.P155L 3 Recurrent X Specific Non Disease gene1325 Silent Substitution PRRG3 c.318G>A p.Q106Q 1 Nonrecurrent X Specific Non Disease gene1326 Missense Substitution PSMD10 c.652T>A p.L218I 1 Nonrecurrent X Specific Non Disease gene1327 Missense Substitution PTCHD1 c.761A>G p.H254R 1 Nonrecurrent X Specific Non Disease gene1328 Sil S b i i PTCHD1 234G C G 8G 1 N X S ifi N Di1328 Silent Substitution PTCHD1 c.234G>C p.G78G 1 Nonrecurrent X Specific Non Disease gene1329 Silent Substitution PTCHD1 c.543T>C p.C181C 96 Recurrent X Specific Non Disease gene1330 Silent Substitution Q0VGB3_HUMAN c.297G>A p.R99R 1 Nonrecurrent X Specific Non Disease gene1331 Missense Substitution RAB33A c.16C>G p.L6V 2 Recurrent X Specific Non Disease gene1332 Silent Substitution RAB33A c.282T>G p.G94G 2 Recurrent X Specific Non Disease gene1333 Silent Substitution RAB39B c.543A>G p.T181T 1 Nonrecurrent X Specific Non Disease gene1334 Missense Substitution RAB40A c.134A>T p.H45L 56 Recurrent X Specific Non Disease gene1335 Missense Substitution RAB40A c.125C>T p.P42L 1 Nonrecurrent X Specific Non Disease gene1336 Missense Substitution RAB40A c.134A>C p.H45P 1 Nonrecurrent X Specific Non Disease gene1337 Missense Substitution RAB40A c 485A>G p N162S 1 Nonrecurrent X Specific Non Disease gene1337 Missense Substitution RAB40A c.485A>G p.N162S 1 Nonrecurrent X Specific Non Disease gene1338 Missense Substitution RAB40AL c.82A>G p.S28G 1 Nonrecurrent X Specific Non Disease gene1339 Silent Substitution RAB40AL c.282C>T p.Y94Y 1 Nonrecurrent X Specific Non Disease gene1340 Silent Substitution RAB40AL c.15C>T p.G5G 1 Nonrecurrent X Specific Non Disease gene1341 Silent Substitution RAB40AL c.84T>C p.S28S 1 Nonrecurrent X Specific Non Disease gene1342 Silent Substitution RAB40AL c.55C>T p.L19L 2 Recurrent X Specific Non Disease gene1343 Silent Substitution RAB41 c.564G>C p.V188V 1 Nonrecurrent X Specific Non Disease gene1344 Silent Substitution RAB41 c.639C>T p.F213F 1 Nonrecurrent X Specific Non Disease gene1345 Silent Substitution RAB9B c.327G>A p.A109A 1 Nonrecurrent X Specific Non Disease gene1346 Silent Substitution RAI2 c.1170G>A p.T390T 1 Nonrecurrent X Specific Non Disease gene





1350 Silent Substitution RBM10 c.2484C>T p.P828P 1 Nonrecurrent X Specific Non Disease gene1351 Silent Substitution RBM41 c.999G>A p.Q333Q 1 Nonrecurrent X Specific Non Disease genep p g1352 Missense Substitution RBMX c.1129C>T p.R377C 1 Nonrecurrent X Specific Non Disease gene1353 Missense Substitution RENBP c.968T>C p.F323S 1 Nonrecurrent X Specific Non Disease gene1354 Missense Substitution RENBP c.1027G>A p.A343T 1 Nonrecurrent X Specific Non Disease gene1355 Missense Substitution RENBP c.50A>G p.Q17R 1 Nonrecurrent X Specific Non Disease gene1356 Missense Substitution RENBP c.295C>A p.P99T 1 Nonrecurrent X Specific Non Disease gene1357 Silent Substitution REPS2 c.1440T>C p.N480N 2 Recurrent X Specific Non Disease gene1358 Ins/Del (in frame) RGAG1 c.3943_3945delAAG p.K1315_D1316>D 1 Nonrecurrent X Specific Non Disease gene1359 Missense Substitution RGAG1 c.3598T>C p.W1200R 7 Recurrent X Specific Non Disease gene1360 Missense Substitution RGAG1 c.457G>A p.A153T 2 Recurrent X Specific Non Disease gene1361 Silent Substitution RGAG1 c 1392C>T p S464S 1 Nonrecurrent X Specific Non Disease gene1361 Silent Substitution RGAG1 c.1392C>T p.S464S 1 Nonrecurrent X Specific Non Disease gene1362 Silent Substitution RGAG1 c.3420C>T p.S1140S 1 Nonrecurrent X Specific Non Disease gene1363 Silent Substitution RGAG1 c.3921C>T p.T1307T 1 Nonrecurrent X Specific Non Disease gene1364 Silent Substitution RGAG1 c.840T>A p.G280G 91 Recurrent X Specific Non Disease gene1365 Missense Substitution RGAG4 c.1477A>C p.S493R 15 Recurrent X Specific Non Disease gene1366 Missense Substitution RGAG4 c.167T>C p.V56A 11 Recurrent X Specific Non Disease gene1367 Silent Substitution RGAG4 c.1836A>G p.G612G 152 Recurrent X Specific Non Disease gene1368 Silent Substitution RGAG4 c.1857C>T p.R619R 151 Recurrent X Specific Non Disease gene1369 Missense Substitution RHGXX_HUMAN c.1532A>G p.H511R 1 Nonrecurrent X Specific Non Disease gene1370 Silent Substitution RHGXX HUMAN c.378C>T p.T126T 1 Nonrecurrent X Specific Non Disease gene_ p p g1371 Silent Substitution RHGXX_HUMAN c.516G>A p.E172E 2 Recurrent X Specific Non Disease gene1372 Missense Substitution RNF113A c.1006G>A p.D336N 3 Recurrent X Specific Non Disease gene1373 Missense Substitution RNF12 c.533A>C p.N178T 2 Recurrent X Specific Non Disease gene1374 Silent Substitution RNF12 c.1395G>A p.S465S 3 Recurrent X Specific Non Disease gene1375 Missense Substitution RNF128 c.610A>T p.N204Y 1 Nonrecurrent X Specific Non Disease gene1376 Missense Substitution RP11-217H1 c.932T>G p.V311G 1 Nonrecurrent X Specific Non Disease gene1377 Missense Substitution RP11-262D11 c.1699A>G p.R567G 1 Nonrecurrent X Specific Non Disease gene1378 Missense Substitution RP11-262D11 c.1595C>T p.T532I 7 Recurrent X Specific Non Disease gene1379 Missense Substitution RP11-262D11 c.1667G>A p.R556Q 1 Nonrecurrent X Specific Non Disease gene1380 Sil t S b tit ti RP11 262D11 1812C T D604D 1 N t X S ifi N Di1380 Silent Substitution RP11-262D11 c.1812C>T p.D604D 1 Nonrecurrent X Specific Non Disease gene1381 Missense Substitution RP11-274K13 c.68C>T p.T23M 1 Nonrecurrent X Specific Non Disease gene1382 Missense Substitution RP11-30A20 c.975C>G p.N325K 1 Nonrecurrent X Specific Non Disease gene1383 Missense Substitution RP11-30A20 c.1052G>T p.W351L 99 Recurrent X Specific Non Disease gene1384 Missense Substitution RP11-30A20 c.488C>T p.S163L 96 Recurrent X Specific Non Disease gene1385 Silent Substitution RP11-30A20 c.1011C>T p.N337N 96 Recurrent X Specific Non Disease gene1386 Missense Substitution RP11-35F15 c.115A>G p.T39A 1 Nonrecurrent X Specific Non Disease gene1387 Missense Substitution RP11-35F15 c.698C>T p.P233L 17 Recurrent X Specific Non Disease gene1388 Missense Substitution KLHL34 c.1706T>A p.V569D 1 Nonrecurrent X Specific Non Disease gene1389 Silent Substitution KLHL34 c.1887C>T p.D629D 1 Nonrecurrent X Specific Non Disease gene1389 Silent Substitution KLHL34 c.1887C T p.D629D 1 Nonrecurrent X Specific Non Disease gene1390 Missense Substitution MAGEB10 c.149T>C p.F50S 81 Recurrent X Specific Non Disease gene1391 Missense Substitution MAGEB10 c.590G>A p.G197D 1 Nonrecurrent X Specific Non Disease gene1392 Missense Substitution MAGEB10 c.194G>A p.R65Q 72 Recurrent X Specific Non Disease gene1393 Silent Substitution MAGEB10 c.558A>C p.L186L 5 Recurrent X Specific Non Disease gene1394 Missense Substitution OR13H1 c.797A>C p.Y266S 116 Recurrent X Specific Non Disease gene1395 Silent Substitution OR13H1 c.549C>G p.L183L 61 Recurrent X Specific Non Disease gene1396 Silent Substitution OR13H1 c.420A>G p.V140V 86 Recurrent X Specific Non Disease gene1397 Missense Substitution RP1-177G6 c.268C>G p.P90A 2 Recurrent X Specific Non Disease gene1398 Silent Substitution RP1-19N1 c.276C>T p.S92S 1 Nonrecurrent X Specific Non Disease gene1399 Sil S b i i KLHL13 G A V18 V 8 R X S ifi N Di1399 Silent Substitution KLHL13 c.555G>A p.V185V 8 Recurrent X Specific Non Disease gene1400 Silent Substitution KLHL13 c.1866G>C p.L622L 12 Recurrent X Specific Non Disease gene1401 Silent Substitution SPANXN1 c.174A>G p.K58K 2 Recurrent X Specific Non Disease gene1402 Missense Substitution CXorf64 c.578T>C p.M193T 4 Recurrent X Specific Non Disease gene1403 Missense Substitution CXorf64 c.343C>G p.L115V 19 Recurrent X Specific Non Disease gene1404 Silent Substitution CXorf64 c.807G>A p.P269P 66 Recurrent X Specific Non Disease gene1405 Silent Substitution CXorf64 c.132C>T p.D44D 11 Recurrent X Specific Non Disease gene1406 Silent Substitution CXorf64 c.279C>T p.Y93Y 5 Recurrent X Specific Non Disease gene1407 Missense Substitution RP13-347D8 c.3347T>C p.L1116P 1 Nonrecurrent X Specific Non Disease gene1408 Missense Substitution RP13-347D8 c 2734C>T p P912S 1 Nonrecurrent X Specific Non Disease gene1408 Missense Substitution RP13 347D8 c.2734C>T p.P912S 1 Nonrecurrent X Specific Non Disease gene1409 Missense Substitution RP13-347D8 c.2305A>T p.I769F 10 Recurrent X Specific Non Disease gene1410 Missense Substitution RP13-347D8 c.4319A>G p.E1440G 15 Recurrent X Specific Non Disease gene1411 Missense Substitution RP13-347D8 c.593C>T p.S198L 2 Recurrent X Specific Non Disease gene1412 Missense Substitution RP13-347D8 c.794G>A p.R265H 3 Recurrent X Specific Non Disease gene1413 Missense Substitution RP13-347D8 c.88C>A p.L30I 4 Recurrent X Specific Non Disease gene1414 Silent Substitution RP13-347D8 c.2616G>A p.P872P 1 Nonrecurrent X Specific Non Disease gene1415 Silent Substitution RP13-347D8 c.2646G>A p.S882S 1 Nonrecurrent X Specific Non Disease gene1416 Silent Substitution RP13-347D8 c.1218C>T p.V406V 3 Recurrent X Specific Non Disease gene1417 Silent Substitution RP13-347D8 c.3945T>C p.S1315S 15 Recurrent X Specific Non Disease gene





1421 Silent Substitution MOSPD2 c.654C>T p.V218V 2 Recurrent X Specific Non Disease gene1422 Missense Substitution RP2 c.844C>T p.R282W 6 Recurrent X Specific Disease genep p g1423 Ins/Del (in frame) NKAP c.603_605delATC p.S202_K203>K 9 Recurrent X Specific Non Disease gene1424 Missense Substitution RP3-527F8 c.79T>C p.F27L 26 Recurrent X Specific Non Disease gene1425 Silent Substitution RP3-527F8 c.96C>T p.S32S 1 Nonrecurrent X Specific Non Disease gene1426 Silent Substitution ARMCX6 c.18T>C p.N6N 3 Recurrent X Specific Non Disease gene1427 Silent Substitution RP4-765F13 c.144C>T p.P48P 1 Nonrecurrent X Specific Non Disease gene1428 Silent Substitution RP4-765F13 c.15G>A p.L5L 1 Nonrecurrent X Specific Non Disease gene1429 Silent Substitution CXorf65 c.417G>A p.A139A 55 Recurrent X Specific Non Disease gene1430 Missense Substitution RP6-213H19 c.133C>T p.R45C 1 Nonrecurrent X Specific Non Disease gene1431 Missense Substitution RPA4 c.97G>A p.A33T 45 Recurrent X Specific Non Disease gene1432 Silent Substitution RPA4 c 420T>A p L140L 1 Nonrecurrent X Specific Non Disease gene1432 Silent Substitution RPA4 c.420T>A p.L140L 1 Nonrecurrent X Specific Non Disease gene1433 Silent Substitution RPA4 c.150T>C p.N50N 47 Recurrent X Specific Non Disease gene1434 Ins/Del (in frame) RPGR c.1579_1581delCAA p.Q527_T528>T 2 Recurrent X Specific Disease gene1435 Missense Substitution RPGR c.1697G>A p.G566E 7 Recurrent X Specific Disease gene1436 Missense Substitution RPGR c.1598C>T p.T533M 2 Recurrent X Specific Disease gene1437 Missense Substitution RPGR c.1367A>G p.Q456R 2 Recurrent X Specific Disease gene1438 Missense Substitution RPGR c.1291A>G p.I431V 6 Recurrent X Specific Disease gene1439 Missense Substitution RPGR c.1274G>A p.R425K 7 Recurrent X Specific Disease gene1440 Silent Substitution RPGR c.732G>A p.K244K 1 Nonrecurrent X Specific Disease gene1441 Silent Substitution RPGR c.1164G>A p.A388A 28 Recurrent X Specific Disease genep p g1442 Missense Substitution RPL10 c.605A>G p.N202S 119 Recurrent X Specific XLMR gene1443 Silent Substitution RPL36A c.141C>T p.G47G 1 Nonrecurrent X Specific Non Disease gene1444 Silent Substitution RPL39 c.126A>G p.R42R 3 Recurrent X Specific Non Disease gene1445 Ins/Del (out of frame) RPL9P7 c.75delT p.I26fs*2 1 Nonrecurrent X Specific Non Disease gene1446 Missense Substitution RPS26L1 c.157A>G p.I53V 1 Nonrecurrent X Specific Non Disease gene1447 Silent Substitution RPS4X c.492G>A p.L164L 116 Recurrent X Specific Non Disease gene1448 Missense Substitution RPS6KA3 c.2168G>A p.R723H 1 Nonrecurrent X Specific XLMR gene1449 Missense Substitution RPS6KA3 c.113T>G p.I38S 1 Nonrecurrent X Specific XLMR gene1450 Silent Substitution RPS6KA3 c.213A>G p.L71L 1 Nonrecurrent X Specific XLMR gene1451 Mi S b tit ti RPS6KA6 2228C A T743N 1 N t X S ifi N Di1451 Missense Substitution RPS6KA6 c.2228C>A p.T743N 1 Nonrecurrent X Specific Non Disease gene1452 Missense Substitution RPS6KA6 c.2074G>A p.D692N 12 Recurrent X Specific Non Disease gene1453 Silent Substitution RPS6KA6 c.537C>T p.L179L 1 Nonrecurrent X Specific Non Disease gene1454 Silent Substitution RS1 c.330T>C p.C110C 1 Nonrecurrent X Specific Disease gene1455 Missense Substitution SAGE1 c.2630T>C p.V877A 1 Nonrecurrent X Specific Non Disease gene1456 Missense Substitution SAGE1 c.2414T>C p.L805S 56 Recurrent X Specific Non Disease gene1457 Missense Substitution SAGE1 c.200C>T p.S67L 3 Recurrent X Specific Non Disease gene1458 Missense Substitution SAGE1 c.1159C>T p.H387Y 16 Recurrent X Specific Non Disease gene1459 Missense Substitution SAGE1 c.2654C>T p.A885V 1 Nonrecurrent X Specific Non Disease gene1460 Missense Substitution SAGE1 c.604G>A p.V202I 1 Nonrecurrent X Specific Non Disease gene1460 Missense Substitution SAGE1 c.604G A p.V202I 1 Nonrecurrent X Specific Non Disease gene1461 Silent Substitution SAGE1 c.1200T>C p.D400D 1 Nonrecurrent X Specific Non Disease gene1462 Silent Substitution SAGE1 c.2646C>T p.L882L 1 Nonrecurrent X Specific Non Disease gene1463 Silent Substitution SAGE1 c.1059A>T p.V353V 1 Nonrecurrent X Specific Non Disease gene1464 Silent Substitution SAGE1 c.24G>A p.T8T 43 Recurrent X Specific Non Disease gene1465 Silent Substitution SAGE1 c.285T>C p.N95N 53 Recurrent X Specific Non Disease gene1466 Silent Substitution SAGE1 c.1497A>G p.Q499Q 54 Recurrent X Specific Non Disease gene1467 Silent Substitution SAGE1 c.2463G>A p.K821K 41 Recurrent X Specific Non Disease gene1468 NonsenseSubstitution SAGE1 c.621T>A p.C207* 1 Nonrecurrent X Specific Non Disease gene1469 Missense Substitution SATL1 c.1130G>T p.S377I 2 Recurrent X Specific Non Disease gene14 0 Mi S b i i SATL1 1120T A S3 4T 2 R X S ifi N Di1470 Missense Substitution SATL1 c.1120T>A p.S374T 2 Recurrent X Specific Non Disease gene1471 Missense Substitution SATL1 c.667C>A p.P223T 1 Nonrecurrent X Specific Non Disease gene1472 Missense Substitution SATL1 c.835T>C p.W279R 122 Recurrent X Specific Non Disease gene1473 Missense Substitution SATL1 c.259C>G p.P87A 1 Nonrecurrent X Specific Non Disease gene1474 Silent Substitution SATL1 c.1755C>T p.N585N 3 Recurrent X Specific Non Disease gene1475 Silent Substitution SATL1 c.387G>C p.T129T 2 Recurrent X Specific Non Disease gene1476 NonsenseSubstitution SATL1 c.1325G>A p.W442* 1 Nonrecurrent X Specific Non Disease gene1477 Silent Substitution SCML2 c.342C>T p.D114D 30 Recurrent X Specific Non Disease gene1478 Missense Substitution SEPT6 c.1108C>T p.R370C 1 Nonrecurrent X Specific Non Disease gene1479 Silent Substitution SEPT6 c 1155G>A p K385K 11 Recurrent X Specific Non Disease gene1479 Silent Substitution SEPT6 c.1155G>A p.K385K 11 Recurrent X Specific Non Disease gene1480 Missense Substitution SERPINA7 c.909G>T p.L303F 25 Recurrent X Specific Disease gene1481 Missense Substitution SERPINA7 c.986A>T p.Y329F 2 Recurrent X Specific Disease gene1482 Silent Substitution SERPINA7 c.207C>A p.S69S 1 Nonrecurrent X Specific Disease gene1483 Missense Substitution SH3KBP1 c.1949G>A p.R650Q 1 Nonrecurrent X Specific Non Disease gene1484 Silent Substitution SH3KBP1 c.1266G>A p.P422P 1 Nonrecurrent X Specific Non Disease gene1485 Silent Substitution SH3KBP1 c.1029A>C p.P343P 2 Recurrent X Specific Non Disease gene1486 Missense Substitution SHOX c.376C>G p.L126V 1 Nonrecurrent PAR Disease gene1487 Missense Substitution SHOX c.62G>A p.G21D 1 Nonrecurrent PAR Disease gene1488 Missense Substitution SHROOM2 c.1426G>C p.G476R 1 Nonrecurrent X Specific Non Disease gene





1492 Missense Substitution SHROOM2 c.631G>A p.G211S 1 Nonrecurrent X Specific Non Disease gene1493 Missense Substitution SHROOM2 c.4661G>A p.R1554H 1 Nonrecurrent X Specific Non Disease genep p g1494 Missense Substitution SHROOM2 c.4821G>C p.L1607F 34 Recurrent X Specific Non Disease gene1495 Missense Substitution SHROOM2 c.3032G>A p.R1011Q 1 Nonrecurrent X Specific Non Disease gene1496 Silent Substitution SHROOM2 c.3756A>G p.T1252T 1 Nonrecurrent X Specific Non Disease gene1497 Silent Substitution SHROOM2 c.3774G>C p.S1258S 1 Nonrecurrent X Specific Non Disease gene1498 Silent Substitution SHROOM2 c.783G>A p.S261S 1 Nonrecurrent X Specific Non Disease gene1499 Silent Substitution SHROOM2 c.483G>A p.E161E 1 Nonrecurrent X Specific Non Disease gene1500 Silent Substitution SHROOM2 c.2946G>A p.P982P 1 Nonrecurrent X Specific Non Disease gene1501 Ins/Del (in frame) SHROOM4 _3384insACAGCAGCAGCA p.Q1128> 3 Recurrent X Specific XLMR gene1502 Missense Substitution SHROOM4 c.2669G>A p.C890Y 1 Nonrecurrent X Specific XLMR gene1503 Missense Substitution SHROOM4 c 3988G>A p E1330K 1 Nonrecurrent X Specific XLMR gene1503 Missense Substitution SHROOM4 c.3988G>A p.E1330K 1 Nonrecurrent X Specific XLMR gene1504 Missense Substitution SHROOM4 c.4101G>T p.L1367F 1 Nonrecurrent X Specific XLMR gene1505 Missense Substitution SHROOM4 c.266G>A p.R89K 1 Nonrecurrent X Specific XLMR gene1506 Missense Substitution SHROOM4 c.1879C>T p.P627S 3 Recurrent X Specific XLMR gene1507 Missense Substitution SHROOM4 c.1135G>A p.V379M 1 Nonrecurrent X Specific XLMR gene1508 Silent Substitution SHROOM4 c.294G>A p.P98P 1 Nonrecurrent X Specific XLMR gene1509 Silent Substitution SHROOM4 c.450C>T p.T150T 1 Nonrecurrent X Specific XLMR gene1510 Silent Substitution SHROOM4 c.3168T>C p.R1056R 1 Nonrecurrent X Specific XLMR gene1511 Silent Substitution SHROOM4 c.3468A>G p.E1156E 51 Recurrent X Specific XLMR gene1512 Silent Substitution SIAH1L c.765C>T p.D255D 1 Nonrecurrent X Specific Non Disease genep p g1513 Missense Substitution SLC10A3 c.1213A>G p.T405A 1 Nonrecurrent X Specific Non Disease gene1514 Missense Substitution SLC10A3 c.544G>A p.A182T 1 Nonrecurrent X Specific Non Disease gene1515 Silent Substitution SLC16A2 c.669C>T p.L223L 1 Nonrecurrent X Specific XLMR gene1516 Missense Substitution SLC25A14 c.701C>A p.T234K 1 Nonrecurrent X Specific Non Disease gene1517 Missense Substitution SLC25A43 c.1001C>T p.P334L 109 Recurrent X Specific Non Disease gene1518 Silent Substitution SLC25A43 c.57T>C p.A19A 8 Recurrent X Specific Non Disease gene1519 Missense Substitution SLC25A5 c.332T>G p.L111R 93 Recurrent X Specific Non Disease gene1520 Silent Substitution SLC25A5 c.699T>C p.T233T 96 Recurrent X Specific Non Disease gene1521 Silent Substitution SLC25A6 c.762C>T p.T254T 1 Nonrecurrent PAR Non Disease gene1522 Sil t S b tit ti SLC25A6 306C T G102G 1 N t PAR N Di1522 Silent Substitution SLC25A6 c.306C>T p.G102G 1 Nonrecurrent PAR Non Disease gene1523 Silent Substitution SLC25A6 c.408C>T p.F136F 11 Recurrent PAR Non Disease gene1524 Silent Substitution SLC25A6 c.429G>A p.A143A 2 Recurrent PAR Non Disease gene1525 Missense Substitution SLC38A5 c.1352T>C p.M451T 13 Recurrent X Specific Non Disease gene1526 Missense Substitution SLC6A14 c.1010A>G p.N337S 1 Nonrecurrent X Specific Non Disease gene1527 Missense Substitution SLC6A14 c.99T>G p.N33K 1 Nonrecurrent X Specific Non Disease gene1528 Missense Substitution SLC6A14 c.1529C>T p.T510I 18 Recurrent X Specific Non Disease gene1529 Silent Substitution SLC6A14 c.1332G>A p.K444K 1 Nonrecurrent X Specific Non Disease gene1530 Silent Substitution SLC6A14 c.120C>T p.S40S 1 Nonrecurrent X Specific Non Disease gene1531 Silent Substitution SLC6A14 c.84T>A p.G28G 2 Recurrent X Specific Non Disease gene1531 Silent Substitution SLC6A14 c.84T A p.G28G 2 Recurrent X Specific Non Disease gene1532 Silent Substitution SLC6A14 c.1593A>C p.V531V 5 Recurrent X Specific Non Disease gene1533 Missense Substitution SLC6A8 c.833G>T p.R278L 18 Recurrent X Specific XLMR gene1534 Missense Substitution SLC6A8 c.1789C>A p.P597T 5 Recurrent X Specific XLMR gene1535 Missense Substitution SLC6A8 c.575A>G p.N192S 13 Recurrent X Specific XLMR gene1536 Missense Substitution SLC6A8 c.620G>A p.R207Q 25 Recurrent X Specific XLMR gene1537 Silent Substitution SLC6A8 c.405C>T p.Y135Y 21 Recurrent X Specific XLMR gene1538 Silent Substitution SLC6A8 c.597C>T p.T199T 19 Recurrent X Specific XLMR gene1539 Missense Substitution SLC7A3 c.608T>C p.F203S 1 Nonrecurrent X Specific Non Disease gene1540 Missense Substitution SLC7A3 c.1766G>C p.S589T 1 Nonrecurrent X Specific Non Disease gene1 41 Mi S b i i SLC A3 1 22C G L 08V 12 R X S ifi N Di1541 Missense Substitution SLC7A3 c.1522C>G p.L508V 12 Recurrent X Specific Non Disease gene1542 Missense Substitution SLC7A3 c.1571T>C p.I524T 1 Nonrecurrent X Specific Non Disease gene1543 Missense Substitution SLC7A3 c.1798C>T p.R600C 1 Nonrecurrent X Specific Non Disease gene1544 Silent Substitution SLC7A3 c.237G>A p.L79L 1 Nonrecurrent X Specific Non Disease gene1545 Silent Substitution SLC7A3 c.744C>T p.F248F 1 Nonrecurrent X Specific Non Disease gene1546 Silent Substitution SLC7A3 c.1599T>C p.S533S 124 Recurrent X Specific Non Disease gene1547 Silent Substitution SLC7A3 c.855G>A p.P285P 9 Recurrent X Specific Non Disease gene1548 Silent Substitution SLC7A3 c.1032T>C p.A344A 7 Recurrent X Specific Non Disease gene1549 Missense Substitution SLC9A6 c.1607G>A p.R536Q 1 Nonrecurrent X Specific XLMR gene1550 Silent Substitution SLC9A6 c 1089A>C p A363A 1 Nonrecurrent X Specific XLMR gene1550 Silent Substitution SLC9A6 c.1089A>C p.A363A 1 Nonrecurrent X Specific XLMR gene1551 Silent Substitution SLC9A6 c.1659C>T p.S553S 9 Recurrent X Specific XLMR gene1552 Ins/Del (out of frame) SLC9A6 c.511_512delAT p.H171fs*59 1 Nonrecurrent X Specific XLMR gene1553 NonsenseSubstitution SLC9A6 c.1402C>T p.R468* 1 Nonrecurrent X Specific XLMR gene1554 Splice SLC9A6 IVS3+1delGTAA 1 Nonrecurrent X Specific XLMR gene1555 Missense Substitution SLC9A7 c.1092C>G p.F364L 1 Nonrecurrent X Specific Non Disease gene1556 Missense Substitution SLC9A7 c.455A>G p.E152G 1 Nonrecurrent X Specific Non Disease gene1557 Silent Substitution SLC9A7 c.1740C>T p.D580D 1 Nonrecurrent X Specific Non Disease gene1558 Silent Substitution SLC9A7 c.1824C>T p.Y608Y 93 Recurrent X Specific Non Disease gene1559 Missense Substitution SLITRK2 c.1801T>C p.S601P 2 Recurrent X Specific Non Disease gene





1563 Silent Substitution SLITRK2 c.1873T>C p.L625L 3 Recurrent X Specific Non Disease gene1564 Missense Substitution SMARCA1 c.823C>T p.R275C 1 Nonrecurrent X Specific Non Disease genep p g1565 Missense Substitution SMARCA1 c.2117G>A p.R706H 1 Nonrecurrent X Specific Non Disease gene1566 Silent Substitution SMARCA1 c.1608C>T p.T536T 1 Nonrecurrent X Specific Non Disease gene1567 Silent Substitution SMARCA1 c.1269A>G p.Q423Q 3 Recurrent X Specific Non Disease gene1568 Silent Substitution SMC1A c.3438C>T p.S1146S 1 Nonrecurrent X Specific XLMR gene1569 Missense Substitution SMS c.449T>C p.I150T 1 Nonrecurrent X Specific XLMR gene1570 Silent Substitution SMS c.1026A>C p.S342S 3 Recurrent X Specific XLMR gene1571 Missense Substitution SOX3 c.310G>A p.G104R 2 Recurrent X Specific XLMR gene1572 Silent Substitution SOX3 c.609T>C p.Y203Y 7 Recurrent X Specific XLMR gene1573 Ins/Del (in frame) SPANXN4 c.87_89delGAA p.K29_N30>N 3 Recurrent X Specific Non Disease gene1574 Silent Substitution SPANXN4 c 87G>A p K29K 1 Nonrecurrent X Specific Non Disease gene1574 Silent Substitution SPANXN4 c.87G>A p.K29K 1 Nonrecurrent X Specific Non Disease gene1575 Missense Substitution SPIN2A c.700A>G p.T234A 3 Recurrent X Specific Non Disease gene1576 Missense Substitution SRPK3 c.341G>A p.G114E 1 Nonrecurrent X Specific Non Disease gene1577 Ins/Del (in frame) SRPX c.68_70delTGC p.L23_R24 1 Nonrecurrent X Specific Non Disease gene1578 Missense Substitution SRPX c.347A>G p.K116R 1 Nonrecurrent X Specific Non Disease gene1579 Missense Substitution SRPX c.673C>T p.P225S 2 Recurrent X Specific Non Disease gene1580 Missense Substitution SRPX c.1238C>T p.S413F 10 Recurrent X Specific Non Disease gene1581 Missense Substitution SRPX2 c.329G>A p.R110H 1 Nonrecurrent X Specific XLMR gene1582 Missense Substitution SSX1 c.422C>A p.P141H 1 Nonrecurrent X Specific Non Disease gene1583 Missense Substitution SSX3 c.403G>A p.D135N 4 Recurrent X Specific Non Disease genep p g1584 Missense Substitution SSX5 c.541C>T p.R181C 2 Recurrent X Specific Non Disease gene1585 Silent Substitution SSX5 c.522G>A p.Q174Q 10 Recurrent X Specific Non Disease gene1586 Missense Substitution SSX6 c.44C>A p.A15D 1 Nonrecurrent X Specific Non Disease gene1587 Missense Substitution SSX6 c.197C>A p.T66N 1 Nonrecurrent X Specific Non Disease gene1588 NonsenseSubstitution SSX6 c.111G>A: p.W37* 1 Nonrecurrent X Specific Non Disease gene1589 Missense Substitution STARD8 c.980G>A p.R327Q 15 Recurrent X Specific Non Disease gene1590 Missense Substitution STARD8 c.678A>C p.K226N 1 Nonrecurrent X Specific Non Disease gene1591 Missense Substitution STARD8 c.1273G>A p.G425R 2 Recurrent X Specific Non Disease gene1592 Silent Substitution STARD8 c.2248A>C p.R750R 1 Nonrecurrent X Specific Non Disease gene1593 Sil t S b tit ti STARD8 279C T P93P 12 R t X S ifi N Di1593 Silent Substitution STARD8 c.279C>T p.P93P 12 Recurrent X Specific Non Disease gene1594 Silent Substitution SEPT6 c.1851A>C p.G617G 78 Recurrent X Specific Non Disease gene1595 Silent Substitution SUV39H1 c.780C>T p.T260T 1 Nonrecurrent X Specific Non Disease gene1596 Silent Substitution SYAP1 c.717G>A p.P239P 1 Nonrecurrent X Specific Non Disease gene1597 Missense Substitution SYBL1 c.586G>A p.V196I 1 Nonrecurrent PAR Non Disease gene1598 Silent Substitution SYN1 c.1422C>T p.P474P 1 Nonrecurrent X Specific XLMR gene1599 Silent Substitution SYN1 c.1107C>T p.I369I 1 Nonrecurrent X Specific XLMR gene1600 Silent Substitution SYN1 c.426A>G p.K142K 1 Nonrecurrent X Specific XLMR gene1601 Silent Substitution SYN1 c.510T>C p.N170N 68 Recurrent X Specific XLMR gene1602 Ins/Del (out of frame) SYP c.274 275insA p.T92fs*4 1 Nonrecurrent X Specific Non Disease gene1602 Ins/Del (out of frame) SYP c.274_275insA p.T92fs 4 1 Nonrecurrent X Specific Non Disease gene1603 Missense Substitution SYTL4 c.1938G>A p.M646I 2 Recurrent X Specific Non Disease gene1604 Missense Substitution SYTL4 c.1574G>C p.G525A 2 Recurrent X Specific Non Disease gene1605 Silent Substitution SYTL4 c.507A>G p.R169R 3 Recurrent X Specific Non Disease gene1606 Missense Substitution SYTL5 c.1105T>C p.S369P 5 Recurrent X Specific Non Disease gene1607 Missense Substitution SYTL5 c.1334C>T p.A445V 1 Nonrecurrent X Specific Non Disease gene1608 Missense Substitution SYTL5 c.904C>T p.R302C 11 Recurrent X Specific Non Disease gene1609 Missense Substitution SYTL5 c.823A>G p.I275V 21 Recurrent X Specific Non Disease gene1610 Silent Substitution SYTL5 c.489A>G p.A163A 49 Recurrent X Specific Non Disease gene1611 Silent Substitution SYTL5 c.579G>A p.S193S 3 Recurrent X Specific Non Disease gene1612 Sil S b i i SYTL 13 0T C Y4 0Y 2 R X S ifi N Di1612 Silent Substitution SYTL5 c.1350T>C p.Y450Y 52 Recurrent X Specific Non Disease gene1613 Silent Substitution SYTL5 c.978G>A p.E326E 1 Nonrecurrent X Specific Non Disease gene1614 NonsenseSubstitution SYTL5 c.1633G>T p.G545* 1 Nonrecurrent X Specific Non Disease gene1615 Ins/Del (in frame) TAF1 c.832_833insAGG p.V278> 1 Nonrecurrent X Specific Disease gene1616 Missense Substitution TAF1 c.3118G>A p.G1040R 1 Nonrecurrent X Specific Disease gene1617 Missense Substitution TAF1 c.839G>C p.C280S 1 Nonrecurrent X Specific Disease gene1618 Missense Substitution TAF1 c.923A>G p.D308G 1 Nonrecurrent X Specific Disease gene1619 Missense Substitution TAF1 c.805C>G p.L269V 2 Recurrent X Specific Disease gene1620 Missense Substitution TAF1 c.2402C>T p.T801M 1 Nonrecurrent X Specific Disease gene1621 Silent Substitution TAF1 c 4705C>T p L1569L 1 Nonrecurrent X Specific Disease gene1621 Silent Substitution TAF1 c.4705C>T p.L1569L 1 Nonrecurrent X Specific Disease gene1622 Silent Substitution TAF1 c.528T>C p.T176T 1 Nonrecurrent X Specific Disease gene1623 Ins/Del (in frame) TAF7L 1062_1069delAAAGAA p.K354_E356> 11 Recurrent X Specific Non Disease gene1624 Missense Substitution TAF7L c.1373G>A p.R458H 3 Recurrent X Specific Non Disease gene1625 Missense Substitution TAF7L c.181G>A p.E61K 2 Recurrent X Specific Non Disease gene1626 Missense Substitution TAF7L c.922A>G p.S308G 13 Recurrent X Specific Non Disease gene1627 Silent Substitution TAF7L c.1047G>A p.E349E 1 Nonrecurrent X Specific Non Disease gene1628 Missense Substitution TAF9B c.46G>T p.A16S 1 Nonrecurrent X Specific Non Disease gene1629 Missense Substitution TBC1D8B c.2168A>G p.N723S 1 Nonrecurrent X Specific Non Disease gene1630 Missense Substitution TBC1D8B c.3187G>A p.E1063K 1 Nonrecurrent X Specific Non Disease gene





1634 Missense Substitution TCEAL2 c.374C>T p.A125V 1 Nonrecurrent X Specific Non Disease gene1635 Silent Substitution TCEAL2 c.609T>C p.Y203Y 15 Recurrent X Specific Non Disease genep p g1636 Silent Substitution TCEAL2 c.615G>A p.R205R 17 Recurrent X Specific Non Disease gene1637 Missense Substitution TCEAL4 c.266G>A p.G89E 2 Recurrent X Specific Non Disease gene1638 Silent Substitution TCEAL4 c.867T>C p.H289H 70 Recurrent X Specific Non Disease gene1639 Missense Substitution TCEAL5 c.302G>C p.R101P 1 Nonrecurrent X Specific Non Disease gene1640 Missense Substitution TCEAL5 c.580G>A p.G194S 1 Nonrecurrent X Specific Non Disease gene1641 Missense Substitution TCEAL8 c.125T>C p.V42A 1 Nonrecurrent X Specific Non Disease gene1642 Missense Substitution TEX11 c.448C>T p.P150S 1 Nonrecurrent X Specific Non Disease gene1643 Missense Substitution TEX11 c.898G>A p.E300K 1 Nonrecurrent X Specific Non Disease gene1644 Missense Substitution TEX11 c.1306G>A p.E436K 8 Recurrent X Specific Non Disease gene1645 Missense Substitution TEX11 c 344A>G p K115R 3 Recurrent X Specific Non Disease gene1645 Missense Substitution TEX11 c.344A>G p.K115R 3 Recurrent X Specific Non Disease gene1646 Silent Substitution TEX11 c.405C>T p.A135A 1 Nonrecurrent X Specific Non Disease gene1647 Silent Substitution TEX11 c.2496T>C p.D832D 9 Recurrent X Specific Non Disease gene1648 Missense Substitution TEX13A c.422A>G p.K141R 1 Nonrecurrent X Specific Non Disease gene1649 Missense Substitution TEX13A c.1046G>T p.G349V 1 Nonrecurrent X Specific Non Disease gene1650 Missense Substitution TEX13B c.589G>A p.G197R 2 Recurrent X Specific Non Disease gene1651 Missense Substitution TEX13B c.272A>T p.Q91L 1 Nonrecurrent X Specific Non Disease gene1652 Silent Substitution TEX13B c.519C>T p.A173A 1 Nonrecurrent X Specific Non Disease gene1653 Missense Substitution TFDP3 c.405G>T p.Q135H 3 Recurrent X Specific Non Disease gene1654 Silent Substitution TFDP3 c.261C>T p.H87H 1 Nonrecurrent X Specific Non Disease genep p g1655 Missense Substitution TFE3 c.416C>T p.A139V 1 Nonrecurrent X Specific Non Disease gene1656 Silent Substitution TFE3 c.1323A>G p.V441V 64 Recurrent X Specific Non Disease gene1657 Missense Substitution THOC2 c.1076T>C p.L359P 1 Nonrecurrent X Specific Non Disease gene1658 Silent Substitution THOC2 c.1398A>G p.T466T 1 Nonrecurrent X Specific Non Disease gene1659 Silent Substitution TIMM17B c.228T>C p.I76I 77 Recurrent X Specific Non Disease gene1660 Missense Substitution TIMP1 c.575G>A p.R192Q 1 Nonrecurrent X Specific Non Disease gene1661 Silent Substitution TIMP1 c.474C>T p.I158I 1 Nonrecurrent X Specific Non Disease gene1662 Silent Substitution TIMP1 c.372T>C p.F124F 62 Recurrent X Specific Non Disease gene1663 Silent Substitution TIMP1 c.261C>T p.P87P 2 Recurrent X Specific Non Disease gene1664 Mi S b tit ti TLR7 665T A V222D 1 N t X S ifi N Di1664 Missense Substitution TLR7 c.665T>A p.V222D 1 Nonrecurrent X Specific Non Disease gene1665 Missense Substitution TLR7 c.32A>T p.Q11L 33 Recurrent X Specific Non Disease gene1666 Silent Substitution TLR7 c.2403G>A p.T801T 15 Recurrent X Specific Non Disease gene1667 Silent Substitution TLR7 c.1035G>A p.L345L 3 Recurrent X Specific Non Disease gene1668 Missense Substitution TLR8 c.1771G>A p.V591I 1 Nonrecurrent X Specific Non Disease gene1669 Missense Substitution TLR8 c.2343A>C p.K781N 1 Nonrecurrent X Specific Non Disease gene1670 Silent Substitution TLR8 c.2301A>G p.K767K 1 Nonrecurrent X Specific Non Disease gene1671 Silent Substitution TLR8 c.129C>T p.C43C 1 Nonrecurrent X Specific Non Disease gene1672 Silent Substitution TLR8 c.2307C>A p.I769I 59 Recurrent X Specific Non Disease gene1673 Silent Substitution TLR8 c.408C>T p.D136D 31 Recurrent X Specific Non Disease gene1673 Silent Substitution TLR8 c.408C T p.D136D 31 Recurrent X Specific Non Disease gene1674 Silent Substitution TLR8 c.2007G>C p.L669L 66 Recurrent X Specific Non Disease gene1675 Silent Substitution TLR8 c.699C>T p.H233H 67 Recurrent X Specific Non Disease gene1676 Missense Substitution TMEM187 c.413G>A p.R138Q 1 Nonrecurrent X Specific Non Disease gene1677 Missense Substitution TMEM187 c.232A>G p.M78V 33 Recurrent X Specific Non Disease gene1678 Missense Substitution TMEM187 c.209C>T p.S70L 21 Recurrent X Specific Non Disease gene1679 Silent Substitution TMEM187 c.735G>A p.T245T 19 Recurrent X Specific Non Disease gene1680 Silent Substitution TMEM187 c.441C>T p.C147C 29 Recurrent X Specific Non Disease gene1681 Ins/Del (out of frame) TMEM187 c.782delG p.R261fs*1 1 Nonrecurrent X Specific Non Disease gene1682 Missense Substitution TMEM27 c.589C>T p.P197S 1 Nonrecurrent X Specific Non Disease gene1683 Sil S b i i TMEM28 1329C T T443T 1 N X S ifi N Di1683 Silent Substitution TMEM28 c.1329C>T p.T443T 1 Nonrecurrent X Specific Non Disease gene1684 Silent Substitution TMLHE c.573C>T p.F191F 1 Nonrecurrent X Specific Non Disease gene1685 Missense Substitution TNMD c.112A>G p.I38V 2 Recurrent X Specific Non Disease gene1686 Silent Substitution TNMD c.306G>A p.V102V 58 Recurrent X Specific Non Disease gene1687 Missense Substitution TRO c.1448C>T p.P483L 14 Recurrent X Specific Non Disease gene1688 Silent Substitution TRO c.315G>A p.Q105Q 1 Nonrecurrent X Specific Non Disease gene1689 Silent Substitution TRO c.1086A>G p.Q362Q 1 Nonrecurrent X Specific Non Disease gene1690 Silent Substitution TRO c.225T>C p.P75P 4 Recurrent X Specific Non Disease gene1691 Missense Substitution TRPC5 c.401C>T p.T134M 2 Recurrent X Specific Non Disease gene1692 Missense Substitution TRPC5 c 2212C>A p L738I 1 Nonrecurrent X Specific Non Disease gene1692 Missense Substitution TRPC5 c.2212C>A p.L738I 1 Nonrecurrent X Specific Non Disease gene1693 Silent Substitution TRPC5 c.39G>A p.P13P 3 Recurrent X Specific Non Disease gene1694 Silent Substitution TRPC5 c.1809C>G p.T603T 7 Recurrent X Specific Non Disease gene1695 Missense Substitution TSPAN6 c.322G>A p.A108T 36 Recurrent X Specific Non Disease gene1696 Missense Substitution TSPAN6 c.703C>T p.R235C 2 Recurrent X Specific Non Disease gene1697 Silent Substitution TSPAN6 c.186C>T p.F62F 1 Nonrecurrent X Specific Non Disease gene1698 Silent Substitution TSPYL2 c.2043C>T p.N681N 1 Nonrecurrent X Specific Non Disease gene1699 Missense Substitution LCAP c.938C>G p.T313S 1 Nonrecurrent X Specific Non Disease gene1700 Silent Substitution UBE1 c.1242C>T p.S414S 1 Nonrecurrent X Specific Non Disease gene1701 Silent Substitution UBE1 c.1296C>T p.L432L 2 Recurrent X Specific Non Disease gene





1705 NonsenseSubstitution UBE2NL c.266T>G p.L89* 117 Recurrent X Specific Non Disease gene1706 Silent Substitution UBQLN2 c.1383G>A p.G461G 1 Nonrecurrent X Specific Non Disease genep p g1707 Silent Substitution UBQLN2 c.1461C>A p.T487T 2 Recurrent X Specific Non Disease gene1708 Missense Substitution UCHL5IP c.44T>A p.L15Q 1 Nonrecurrent X Specific Non Disease gene1709 Missense Substitution UCHL5IP c.467G>T p.R156L 1 Nonrecurrent X Specific Non Disease gene1710 Missense Substitution UCHL5IP c.673A>C p.M225L 1 Nonrecurrent X Specific Non Disease gene1711 Silent Substitution UCHL5IP c.651T>C p.R217R 2 Recurrent X Specific Non Disease gene1712 Silent Substitution UPF3B c.879A>G p.K293K 1 Nonrecurrent X Specific XLMR gene1713 Ins/Del (out of frame) UPF3B c.674_677delGAAA p.R225fs*22 1 Nonrecurrent X Specific XLMR gene1714 Ins/Del (out of frame) UPF3B c.867_868delAG p.G290fs*2 1 Nonrecurrent X Specific XLMR gene1715 NonsenseSubstitution UPF3B c.1288C>T p.R430* 1 Nonrecurrent X Specific XLMR gene1716 Missense Substitution UPRT c 483G>A p M161I 1 Nonrecurrent X Specific Non Disease gene1716 Missense Substitution UPRT c.483G>A p.M161I 1 Nonrecurrent X Specific Non Disease gene1717 Missense Substitution UPRT c.215C>T p.S72F 1 Nonrecurrent X Specific Non Disease gene1718 Silent Substitution UPRT c.381T>G p.R127R 140 Recurrent X Specific Non Disease gene1719 Missense Substitution USP11 c.448G>A p.V150M 1 Nonrecurrent X Specific Non Disease gene1720 Silent Substitution USP11 c.1515G>A p.P505P 1 Nonrecurrent X Specific Non Disease gene1721 Silent Substitution USP11 c.2562C>T p.F854F 1 Nonrecurrent X Specific Non Disease gene1722 Silent Substitution USP11 c.2310C>T p.V770V 1 Nonrecurrent X Specific Non Disease gene1723 Silent Substitution USP11 c.2727C>A p.V909V 2 Recurrent X Specific Non Disease gene1724 Ins/Del (in frame) USP26 c.369_370insACA p.Q124>TQ 2 Recurrent X Specific Disease gene1725 Missense Substitution USP26 c.2207C>T p.S736F 1 Nonrecurrent X Specific Disease genep p g1726 Missense Substitution USP26 c.2206T>A p.S736T 1 Nonrecurrent X Specific Disease gene1727 Missense Substitution USP26 c.1423C>T p.H475Y 2 Recurrent X Specific Disease gene1728 Missense Substitution USP26 c.1044T>A p.F348L 1 Nonrecurrent X Specific Disease gene1729 Missense Substitution USP26 c.494T>C p.L165S 2 Recurrent X Specific Disease gene1730 Missense Substitution USP26 c.1090C>T p.L364F 17 Recurrent X Specific Disease gene1731 Silent Substitution USP26 c.576G>A p.E192E 72 Recurrent X Specific Disease gene1732 Silent Substitution USP26 c.2088A>G p.P696P 2 Recurrent X Specific Disease gene1733 Missense Substitution USP51 c.1988G>A p.S663N 1 Nonrecurrent X Specific Non Disease gene1734 Silent Substitution USP9X c.5715T>C p.D1905D 1 Nonrecurrent X Specific Non Disease gene1735 Sil t S b tit ti USP9X 3609C T S1203S 1 N t X S ifi N Di1735 Silent Substitution USP9X c.3609C>T p.S1203S 1 Nonrecurrent X Specific Non Disease gene1736 Silent Substitution USP9X c.4791G>A p.K1597K 1 Nonrecurrent X Specific Non Disease gene1737 Silent Substitution USP9X c.1983T>A p.G661G 4 Recurrent X Specific Non Disease gene1738 Ins/Del (out of frame) USP9X c.7505delA p.Q2502fs*18 1 Nonrecurrent X Specific Non Disease gene1739 Missense Substitution UTX c.2177C>A p.T726K 29 Recurrent X Specific Non Disease gene1740 Silent Substitution UTX c.3111G>A p.Q1037Q 27 Recurrent X Specific Non Disease gene1741 Splice VBP1 IVS3+5G>A 1 Nonrecurrent X Specific Non Disease gene1742 Silent Substitution VGLL1 c.45A>G p.K15K 7 Recurrent X Specific Non Disease gene1743 Missense Substitution VSIG1 c.439G>A p.V147I 7 Recurrent X Specific Non Disease gene1744 Missense Substitution VSIG4 c.480G>T p.R160S 1 Nonrecurrent X Specific Non Disease gene1744 Missense Substitution VSIG4 c.480G T p.R160S 1 Nonrecurrent X Specific Non Disease gene1745 Missense Substitution VSIG4 c.274G>T p.V92F 2 Recurrent X Specific Non Disease gene1746 Missense Substitution VSIG4 c.836G>A p.G279E 5 Recurrent X Specific Non Disease gene1747 Missense Substitution VSIG4 c.1148C>T p.T383I 1 Nonrecurrent X Specific Non Disease gene1748 NonsenseSubstitution VSIG4 c.973A>T p.R325* 1 Nonrecurrent X Specific Non Disease gene1749 Missense Substitution WDR13 c.145G>C p.A49P 1 Nonrecurrent X Specific Non Disease gene1750 Missense Substitution WDR40B c.56A>G p.D19G 4 Recurrent X Specific Non Disease gene1751 Silent Substitution WDR40B c.1137C>T p.A379A 1 Nonrecurrent X Specific Non Disease gene1752 Missense Substitution WDR40C c.441C>A p.H147Q 46 Recurrent X Specific Non Disease gene1753 Silent Substitution WDR40C c.1218C>T p.C406C 50 Recurrent X Specific Non Disease gene1 4 Sil S b i i WDR40C 20A C P240P 31 R X S ifi N Di1754 Silent Substitution WDR40C c.720A>C p.P240P 31 Recurrent X Specific Non Disease gene1755 Missense Substitution WDR42B c.1558G>C p.G520R 1 Nonrecurrent X Specific Non Disease gene1756 Missense Substitution WDR42B c.643G>A p.G215S 1 Nonrecurrent X Specific Non Disease gene1757 Missense Substitution WDR42B c.25G>A p.G9S 1 Nonrecurrent X Specific Non Disease gene1758 Silent Substitution WDR42B c.306G>A p.E102E 11 Recurrent X Specific Non Disease gene1759 Missense Substitution WDR44 c.865G>A p.A289T 18 Recurrent X Specific Non Disease gene1760 Silent Substitution WDR44 c.612C>T p.A204A 1 Nonrecurrent X Specific Non Disease gene1761 Silent Substitution WDR44 c.147G>A p.E49E 6 Recurrent X Specific Non Disease gene1762 Silent Substitution WDR44 c.1776C>T p.N592N 18 Recurrent X Specific Non Disease gene1763 Silent Substitution WDR44 c 951C>T p T317T 23 Recurrent X Specific Non Disease gene1763 Silent Substitution WDR44 c.951C>T p.T317T 23 Recurrent X Specific Non Disease gene1764 Missense Substitution WNK3 c.1667C>G p.P556R 1 Nonrecurrent X Specific Non Disease gene1765 Missense Substitution WNK3 c.3841C>T p.R1281W 1 Nonrecurrent X Specific Non Disease gene1766 Missense Substitution WNK3 c.4219A>G p.K1407E 1 Nonrecurrent X Specific Non Disease gene1767 Silent Substitution WNK3 c.2169C>A p.G723G 1 Nonrecurrent X Specific Non Disease gene1768 Silent Substitution WNK3 c.1206T>C p.H402H 1 Nonrecurrent X Specific Non Disease gene1769 Missense Substitution WWC3 c.2675G>A p.R892Q 1 Nonrecurrent X Specific Non Disease gene1770 Missense Substitution WWC3 c.1483G>A p.A495T 4 Recurrent X Specific Non Disease gene1771 Missense Substitution WWC3 c.2279C>T p.T760M 1 Nonrecurrent X Specific Non Disease gene1772 Missense Substitution WWC3 c.1975G>A p.A659T 1 Nonrecurrent X Specific Non Disease gene





1776 Silent Substitution WWC3 c.1128T>C p.R376R 3 Recurrent X Specific Non Disease gene1777 Missense Substitution XG c.178G>A p.D60N 36 Recurrent X Specific Non Disease genep p g1778 Missense Substitution XK c.872A>G p.N291S 1 Nonrecurrent X Specific Disease gene1779 Missense Substitution XKRX c.596A>G p.Y199C 1 Nonrecurrent X Specific Non Disease gene1780 Missense Substitution XKRX c.995A>G p.Y332C 1 Nonrecurrent X Specific Non Disease gene1781 Missense Substitution XKRX c.1265G>A p.R422H 3 Recurrent X Specific Non Disease gene1782 Missense Substitution XKRX c.128G>A p.R43Q 2 Recurrent X Specific Non Disease gene1783 Silent Substitution XKRX c.1287A>G p.V429V 1 Nonrecurrent X Specific Non Disease gene1784 Silent Substitution XKRX c.1215G>A p.L405L 1 Nonrecurrent X Specific Non Disease gene1785 Missense Substitution XPNPEP2 c.644C>T p.T215I 2 Recurrent X Specific Disease gene1786 Missense Substitution XPNPEP2 c.373A>T p.M125L 1 Nonrecurrent X Specific Disease gene1787 Missense Substitution XPNPEP2 c 667G>A p V223I 2 Recurrent X Specific Disease gene1787 Missense Substitution XPNPEP2 c.667G>A p.V223I 2 Recurrent X Specific Disease gene1788 Missense Substitution XPNPEP2 c.988A>G p.M330V 1 Nonrecurrent X Specific Disease gene1789 Silent Substitution XPNPEP2 c.2022C>T p.V674V 1 Nonrecurrent X Specific Disease gene1790 Silent Substitution XPNPEP2 c.1236C>T p.S412S 1 Nonrecurrent X Specific Disease gene1791 Silent Substitution XPNPEP2 c.447T>C p.P149P 35 Recurrent X Specific Disease gene1792 Silent Substitution XPNPEP2 c.1824C>G p.P608P 6 Recurrent X Specific Disease gene1793 Missense Substitution YY2 c.622C>T p.P208S 1 Nonrecurrent X Specific Non Disease gene1794 Missense Substitution ZBED1 c.1766A>G p.K589R 1 Nonrecurrent PAR Non Disease gene1795 Missense Substitution ZBED1 c.595G>A p.D199N 1 Nonrecurrent PAR Non Disease gene1796 Missense Substitution ZBED1 c.442A>G p.T148A 2 Recurrent PAR Non Disease genep g1797 Silent Substitution ZBED1 c.1872C>T p.S624S 1 Nonrecurrent PAR Non Disease gene1798 Silent Substitution ZBED1 c.1554C>T p.D518D 1 Nonrecurrent PAR Non Disease gene1799 Silent Substitution ZBED1 c.324C>T p.D108D 16 Recurrent PAR Non Disease gene1800 Silent Substitution ZBED1 c.615T>C p.N205N 17 Recurrent PAR Non Disease gene1801 Silent Substitution ZBED1 c.168C>T p.Y56Y 3 Recurrent PAR Non Disease gene1802 Missense Substitution ZBTB33 c.1478A>G p.Y493C 1 Nonrecurrent X Specific Non Disease gene1803 Missense Substitution ZBTB33 c.1595C>G p.P532R 1 Nonrecurrent X Specific Non Disease gene1804 Silent Substitution ZBTB33 c.411T>G p.P137P 1 Nonrecurrent X Specific Non Disease gene1805 Missense Substitution ZC3H12B c.1564C>T p.R522C 1 Nonrecurrent X Specific Non Disease gene1806 Sil t S b tit ti ZC3H12B 660A C I220I 1 N t X S ifi N Di1806 Silent Substitution ZC3H12B c.660A>C p.I220I 1 Nonrecurrent X Specific Non Disease gene1807 Missense Substitution ZCCHC13 c.182T>C p.V61A 1 Nonrecurrent X Specific Non Disease gene1808 Silent Substitution ZCCHC13 c.39C>T p.G13G 1 Nonrecurrent X Specific Non Disease gene1809 NonsenseSubstitution ZCCHC13 c.45G>A p.W15* 1 Nonrecurrent X Specific Non Disease gene1810 Missense Substitution ZCCHC5 c.349C>T p.P117S 28 Recurrent X Specific Non Disease gene1811 Missense Substitution ZCCHC5 c.424G>A p.A142T 7 Recurrent X Specific Non Disease gene1812 Missense Substitution ZDHHC9 c.442C>T p.R148W 1 Nonrecurrent X Specific XLMR gene1813 Missense Substitution ZDHHC9 c.448C>T p.P150S 1 Nonrecurrent X Specific XLMR gene1814 Ins/Del (out of frame) ZDHHC9 c.175_176insCGCT p.Y59fs*33 1 Nonrecurrent X Specific XLMR gene1815 Splice ZDHHC9 IVS3+5 G>C 1 Nonrecurrent X Specific XLMR gene1815 Splice ZDHHC9 IVS3 5 G C 1 Nonrecurrent X Specific XLMR gene1816 Missense Substitution ZFX c.1870G>A p.A624T 40 Recurrent X Specific Non Disease gene1817 Missense Substitution ZFX c.581A>G p.N194S 1 Nonrecurrent X Specific Non Disease gene1818 Missense Substitution ZFX c.911A>G p.N304S 1 Nonrecurrent X Specific Non Disease gene1819 Missense Substitution ZFX c.1954A>G p.I652V 5 Recurrent X Specific Non Disease gene1820 Missense Substitution ZFX c.465T>A p.H155Q 2 Recurrent X Specific Non Disease gene1821 Missense Substitution ZFX c.409G>A p.D137N 1 Nonrecurrent X Specific Non Disease gene1822 Missense Substitution ZMAT1 c.128G>A p.R43K 2 Recurrent X Specific Non Disease gene1823 Silent Substitution ZMYM3 c.4065C>T p.R1355R 1 Nonrecurrent X Specific Non Disease gene1824 Silent Substitution ZMYM3 c.3945C>T p.N1315N 2 Recurrent X Specific Non Disease gene182 Mi S b i i ZNF182 282C A N94K 2 R X S ifi N Di1825 Missense Substitution ZNF182 c.282C>A p.N94K 2 Recurrent X Specific Non Disease gene1826 Missense Substitution ZNF185 c.1315C>G p.R439G 1 Nonrecurrent X Specific Non Disease gene1827 Silent Substitution ZNF185 c.69G>A p.E23E 1 Nonrecurrent X Specific Non Disease gene1828 Missense Substitution ZNF275 c.499G>A p.V167I 2 Recurrent X Specific Non Disease gene1829 Silent Substitution ZNF275 c.810C>T p.C270C 107 Recurrent X Specific Non Disease gene1830 Missense Substitution ZNF41 c.1997C>T p.A666V 1 Nonrecurrent X Specific XLMR gene1831 Missense Substitution ZNF41 c.374T>G p.I125R 6 Recurrent X Specific XLMR gene1832 Missense Substitution ZNF41 c.945T>G p.D315E 4 Recurrent X Specific XLMR gene1833 Missense Substitution ZNF41 c.1597A>G p.T533A 1 Nonrecurrent X Specific XLMR gene1834 Silent Substitution ZNF41 c 1578T>A p A526A 1 Nonrecurrent X Specific XLMR gene1834 Silent Substitution ZNF41 c.1578T>A p.A526A 1 Nonrecurrent X Specific XLMR gene1835 Silent Substitution ZNF41 c.786G>A p.Q262Q 4 Recurrent X Specific XLMR gene1836 Missense Substitution ZNF449 c.337G>A p.E113K 1 Nonrecurrent X Specific Non Disease gene1837 Silent Substitution ZNF449 c.1068T>C p.C356C 17 Recurrent X Specific Non Disease gene1838 Silent Substitution ZNF449 c.471C>T p.A157A 2 Recurrent X Specific Non Disease gene1839 Missense Substitution ZNF630 c.430C>T p.R144C 1 Nonrecurrent X Specific Non Disease gene1840 Missense Substitution ZNF630 c.212G>A p.S71N 4 Recurrent X Specific Non Disease gene1841 Missense Substitution ZNF630 c.346T>A p.L116I 1 Nonrecurrent X Specific Non Disease gene1842 Silent Substitution ZNF630 c.1149C>T p.A383A 1 Nonrecurrent X Specific Non Disease gene1843 Silent Substitution ZNF630 c.1626C>T p.P542P 22 Recurrent X Specific Non Disease gene





1847 Silent Substitution ZNF645 c.834G>A p.Q278Q 2 Recurrent X Specific Non Disease gene1848 Missense Substitution ZNF673 c.289A>C p.K97Q 1 Nonrecurrent X Specific Non Disease genep p g1849 Silent Substitution ZNF673 c.355A>C p.R119R 1 Nonrecurrent X Specific Non Disease gene1850 Ins/Del (out of frame) ZNF711 c.2157_2158delTG p.719fs*1 1 Nonrecurrent X Specific Non Disease gene1851 Silent Substitution ZNF75 c.1434G>A p.T478T 86 Recurrent X Specific Non Disease gene1852 Missense Substitution ZNF81 c.8C>T p.A3V 2 Recurrent X Specific XLMR gene1853 Silent Substitution ZNF81 c.18C>T p.D6D 1 Nonrecurrent X Specific XLMR gene1854 Silent Substitution ZRSR2 c.864C>T p.N288N 89 Recurrent X Specific Non Disease gene1855 Silent Substitution ZRSR2 c.909C>T p.P303P 5 Recurrent X Specific Non Disease gene1856 Missense Substitution ZXDA c.2278A>G p.N760D 1 Nonrecurrent X Specific Non Disease gene1857 Silent Substitution ZXDA c.1155C>T p.P385P 13 Recurrent X Specific Non Disease gene1858 Silent Substitution ZXDA c 1272C>T p F424F 24 Recurrent X Specific Non Disease gene1858 Silent Substitution ZXDA c.1272C>T p.F424F 24 Recurrent X Specific Non Disease gene


Supp

lem

enta

ry T

able

4:

In fr

ame

varia

nts

foun

d in

the

scre

en

Gen

eO

bser

ved

in

cont

rols

Mut

atio

nFr

eque

ncy

Sequ

ence

Con

text

AM

OT

Yes

c.15

11_1

537d

elTT

GC

TGTT

GC

TGC

TGC

TGC

TGC

TCC

AG

p.V

504_

A51

3>A

5C

ATG

GTA

GC

TGC

TGC

TCC

AG

[TTG

CTG

TTG

CTG

CTG

CTG

CTG

CTC

CA

G]C

TGC

TGC

TGC

TGC

CC

CG

TCTC

CA

GC

CA

CTG

AM

OT

Yes

c.18

57_1

858i

nsC

CT

p.A

620>

PA

5TG

GC

TCA

GG

CTG

AG

GTT

CC

T[C

CT]

GC

AA

GTC

CA

GC

TAC

CG

GTC

CTG

GA

CC

AC

AT

AR

SD

Yes

c.70

1_73

0del

CC

GG

CG

TGG

GC

TGC

CTG

TTTT

TCA

TCTC

TT p

.A23

4_W

244>

G6

GA

GA

GC

AG

TCA

CC

GG

CA

TGG

[CC

GG

CG

TGG

GC

TGC

CTG

TTTT

TCA

TCTC

TT]G

GTA

CTC

CTC

CTT

CG

GG

TTTG

TGC

GA

CG

CT

ATR

XN

oc.

568_

576d

elG

CTT

TTA

AG

p.A

190_

S19

3>S

1C

AA

AA

TTA

CG

TCA

GC

TTA

AG

[GC

TTTT

AA

G]T

CTG

TGTT

GG

CTG

ATA

TTA

AG

AA

GG

CTC

AT

BM

P15

No

c.78

8_78

9ins

TCT

p.R

264>

LR1

ATG

GA

AA

GG

GA

ATC

TCTT

CT[

TCT]

CC

GG

AG

AA

CC

CG

AC

AA

GC

AG

ATG

GTA

TCTC

FAM

120C

Yes

c.32

9_33

0ins

GC

CG

CC

p.Q

112>

PP

Q11

CC

CG

GG

CTG

CA

CC

CTC

CG

CT[

GC

CG

CC

]GC

CG

CC

GC

CG

CC

GC

CC

CC

TCA

GC

TGC

CC

GG

GN

L3L

No

c.17

7_17

9del

AA

A p

.K62

_W63

>W3

GC

CA

ATC

GA

GA

GG

CTG

AA

TT[A

AA

]GA

AG

AA

GTG

Ggt

aagc

tttttg

ccttg

gtg

GP

R11

2Y

esc.

7969

_797

1del

GA

T p

.D26

57_M

2658

>M12

5TG

AG

TGC

CA

GC

ATT

TCA

GA

T[G

AT]

ATG

TTC

ATT

CA

AA

AC

TTA

GC

TGA

CC

CA

GTG

GP

R50

Yes

c.15

05_1

516d

elC

CA

CTG

GC

CA

CA

p.T

502_

I506

>I79

CA

CC

AG

CC

AC

CC

TAA

AC

CC

A[C

CA

CTG

GC

CA

CA

]TC

AA

GC

CA

GC

TAC

CA

GC

CA

TGC

TGA

GC

CC

AK

LHL1

5N

oc.

716_

721d

elC

AG

AA

T p

.S23

9_F2

41>F

1gt

gttc

ttagG

TTA

AG

AC

AT[

CA

GA

AT]

TTTA

TAG

ATA

CTC

CC

GA

CA

GC

TCC

GTT

AC

GM

AG

EC

2N

oc.

40_4

2del

AA

C p

.N14

_D15

>D1

TTC

CA

TTC

CG

CA

AC

GTT

GA

C[A

AC

]GA

CTC

CC

GA

CC

TCA

GTT

GA

GTT

AG

AA

GA

CT

NA

P1L

2N

oc.

660_

663d

elG

AG

p.E

660_

E66

1>D

1A

GG

AG

GA

GG

AG

GA

GG

AG

GA

G[G

AG

]GA

CG

AC

ATT

GA

GG

CTA

CTG

GA

GA

AG

AG

AA

TN

AP

1L3

No

c.19

0_19

5del

AG

CA

GC

p.S

64_S

65de

lSS

1G

CA

GC

GG

CA

GC

AG

CA

GC

AG

C[A

GC

AG

C]G

GC

AG

CA

CTA

GC

AG

CC

GC

AG

CC

GC

TTG

TAT

NK

AP

Yes

c.60

3_60

5del

ATC

p.S

202_

K20

3>K

9A

AA

AG

GA

GA

AA

GA

AA

AA

ATC

[ATC

]GA

AA

AG

AA

AA

CA

TAA

GA

AG

TATT

CTG

AA

GA

NO

X1

Yes

c.55

5_55

7del

CTT

p.F

185_

L186

>L93

AG

TGTG

AA

CA

GC

AA

TTTA

TT[C

TT]A

TTTT

TGC

TCA

TCA

AA

AA

ATA

Aag

gattt

tP

AS

D1

No

c.14

78_1

498d

elA

GC

GG

CA

GC

TGC

GG

GA

GC

AG

C p

.Q49

3_L5

00>L

1A

CA

AC

AC

CTG

AA

GG

AG

CA

GC

[AG

CG

GC

AG

CTG

CG

GG

AG

CA

GC

]TG

CA

AC

AG

CTG

AG

AG

AG

CA

AA

GG

AA

GG

TGC

PA

SD

1N

oc.

958_

975d

elA

TGG

AC

CA

GC

AG

GA

CC

CA

p.M

320_

E32

6>E

1C

AG

TGG

AC

CA

GG

AG

GG

CC

CA

[ATG

GA

CC

AG

CA

GG

AC

CC

A]G

AG

AA

CC

CA

GTT

GC

CC

CG

TTG

GA

CC

AG

GC

AP

QB

P1

No

c.33

4_35

4del

AG

GG

GC

CA

TGA

CA

AG

TCG

GA

C p

.G11

3_S

120>

S1

GG

AG

CC

ATG

AC

AA

GTC

GG

AC

[AG

GG

GC

CA

TGA

CA

AG

TCG

GA

C]C

GC

AG

CC

ATG

AG

AA

AC

TAG

AC

AG

GG

GC

CA

CR

GA

G1

No

c.39

43_3

945d

elA

AG

p.K

1315

_D13

16>D

1A

GTG

CC

AG

CTG

GC

TGA

AG

AG

[AA

G]G

ATT

CC

CC

AG

GC

AA

CTC

AA

GC

CA

GG

TTC

TGR

PG

RY

esc.

1579

_158

1del

CA

A p

.Q52

7_T5

28>T

2ca

aaaa

attta

cagA

AA

CA

A[C

AA

]AC

AA

TTG

GG

GA

AC

TGA

CG

CA

GG

ATA

CA

GC

TS

HR

OO

M4

Yes

c.33

83_3

384i

nsA

CA

GC

AG

CA

GC

A p

.Q11

28>Q

QQ

Q c

.339

1_33

92in

sAG

G p

.Q11

31>Q

E3

AA

GC

AG

CA

AC

AG

CA

GC

AG

CA

[AC

AG

CA

GC

AG

CA

]GA

AG

CA

AC

[AG

G]A

GG

AG

GA

GG

AG

GA

GG

AG

SP

AN

XN

4Y

esc.

87_8

9del

GA

A p

.K29

_N30

>N3

tttttt

tacc

agA

AG

AA

GA

A[G

AA

]TC

TGC

AC

AG

AG

CC

TCA

GC

CC

CTG

AA

CA

GA

GS

RP

XN

oc.

68_7

0del

TGC

p.L

23_R

24>R

1TC

TGC

TGC

TGC

TGC

TGC

TGC

[TG

C]G

CG

TCC

CG

CC

CA

GC

CG

CA

GC

TTC

CC

AG

gta

TAF1

No

c.83

2_83

3ins

AG

G p

.V27

8>E

V1

GG

AA

GA

GC

AG

ATC

CA

GG

AG

G[A

GG

]TG

GA

GTG

CTC

AG

TAG

AA

TCA

GA

AG

TCA

GC

CTA

F7L

Yes

c.10

62_1

069d

elA

AA

GA

A p

.K35

4_E

356>

E11

ATG

AG

GA

TGA

AG

ATG

AA

GA

C[A

AA

GA

A]G

AG

GA

GG

AG

GA

AG

ATT

GTT

CTG

AA

GA

GTA

TU

SP

26Y

esc.

369_

370i

nsA

CA

p.Q

124>

TQ2

GTG

GG

AG

TGTC

TTTT

CTA

GC

[AC

A]A

CA

AC

AC

AG

AA

GG

AA

ATC

AA

CA

AA

AC

TTC

A


Supplementary Table 5: Missense substitutions ranked by conservation score


Region of X chromosome Gene Class Conservation

Score844 Missense Substitution KIAA1166 c.637C>T p.R213W 1 Nonrecurrent X Specific Non Disease gene 23242 Missense Substitution CASK c.2129A>G p.D710G 1 Nonrecurrent X Specific Non Disease gene 19243 Missense Substitution CASK c.802T>C p.Y268H 1 Nonrecurrent X Specific Non Disease gene 191160 Missense Substitution OGT c.1678A>G p.T560A 1 Nonrecurrent X Specific Non Disease gene 15.9031478 Missense Substitution SEPT6 c.1108C>T p.R370C 1 Nonrecurrent X Specific Non Disease gene 15.124467 Missense Substitution EFNB1 c.422G>C p.S141T 1 Nonrecurrent X Specific Disease gene 15871 Missense Substitution LANCL3 c.1142T>C p.L381P 13 Recurrent X Specific Non Disease gene 15905 Missense Substitution MAGEA4 c.122C>T p.S41F 1 Nonrecurrent X Specific Non Disease gene 15

1144 Missense Substitution ODZ1 c.5450G>T p.R1817L 1 Nonrecurrent X Specific Non Disease gene 151145 Missense Substitution ODZ1 c.6560A>T p.H2187L 1 Nonrecurrent X Specific Non Disease gene 151168 Missense Substitution OTC c.809A>G p.Q270R 7 Recurrent X Specific XLMR gene 151210 Missense Substitution PFKFB1 c.122C>T p.S41F 1 Nonrecurrent X Specific Non Disease gene 151430 Missense Substitution RP6-213H19 c.133C>T p.R45C 1 Nonrecurrent X Specific Non Disease gene 151451 Missense Substitution RPS6KA6 c.2228C>A p.T743N 1 Nonrecurrent X Specific Non Disease gene 141702 Missense Substitution UBE2A c.215T>C p.F72S 1 Nonrecurrent X Specific XLMR gene 141703 Missense Substitution UBE2A c.238C>G p.Q80E 1 Nonrecurrent X Specific XLMR gene 141146 Missense Substitution ODZ1 c.8030C>T p.A2677V 1 Nonrecurrent X Specific Non Disease gene 13.35841 Missense Substitution KCND1 c.1396C>G p.L466V 1 Nonrecurrent X Specific Non Disease gene 13.2485 Missense Substitution ENOX2 c.1448A>G p.E483G 1 Nonrecurrent X Specific Non Disease gene 13.14301 Missense Substitution CNKSR2 c.2598C>G p.D866E 1 Nonrecurrent X Specific Non Disease gene 13.062288 Missense Substitution CLCN5 c.1625C>T p.A542V 1 Nonrecurrent X Specific Disease gene 13.008

1102 Missense Substitution NHS c.1651C>T p.P551S 3 Recurrent X Specific XLMR gene 13139 Missense Substitution ATP11C c.2009G>A p.G670D 1 Nonrecurrent X Specific Non Disease gene 13283 Missense Substitution CLCN4 c.635T>G p.V212G 1 Nonrecurrent X Specific Non Disease gene 13292 Missense Substitution CNGA2 c.913G>A p.D305N 1 Nonrecurrent X Specific Non Disease gene 13396 Missense Substitution CXorf9 c.847G>C p.D283H 1 Nonrecurrent X Specific Non Disease gene 13686 Missense Substitution GRIA3 c.2117T>C p.M706T 1 Nonrecurrent X Specific XLMR gene 13

1101 Missense Substitution NHS c.2267T>C p.F756S 1 Nonrecurrent X Specific XLMR gene 131297 Missense Substitution POU3F4 c.733A>G p.M245V 2 Recurrent X Specific Disease gene 131314 Missense Substitution PQBP1 c.19C>G p.L7V 1 Nonrecurrent X Specific XLMR gene 131045 Missense Substitution MID2 c.1073C>A p.A358D 9 Recurrent X Specific Non Disease gene 12.721198 Missense Substitution PCDH19 c.813C>G p.H271Q 1 Nonrecurrent X Specific Non Disease gene 12.614335 Missense Substitution CUL4B c.1714C>T p.R572C 1 Nonrecurrent X Specific XLMR gene 12.3681 Missense Substitution ABCB7 c.941G>A p.R314Q 1 Nonrecurrent X Specific Disease gene 12.288

225 Missense Substitution C1GALT1C1 c.428C>T p.A143V 1 Nonrecurrent X Specific Disease gene 12226 Missense Substitution C1GALT1C1 c.393T>A p.D131E 36 Recurrent X Specific Disease gene 12237 Missense Substitution CAPN6 c.1493C>T p.T498I 1 Nonrecurrent X Specific Non Disease gene 12351 Missense Substitution CXorf21 c.362G>T p.C121F 1 Nonrecurrent X Specific Non Disease gene 12663 Missense Substitution GPR174 c.752C>T p.P251L 1 Nonrecurrent X Specific Non Disease gene 12697 Missense Substitution SPANXN2 c.125A>C p.N42T 1 Nonrecurrent X Specific Non Disease gene 12784 Missense Substitution IGBP1 c.214G>C p.A72P 1 Nonrecurrent X Specific XLMR gene 12

1265 Missense Substitution PLXNA3 c.3520C>A p.L1174I 1 Nonrecurrent X Specific Non Disease gene 121516 Missense Substitution SLC25A14 c.701C>A p.T234K 1 Nonrecurrent X Specific Non Disease gene 121564 Missense Substitution SMARCA1 c.823C>T p.R275C 1 Nonrecurrent X Specific Non Disease gene 121565 Missense Substitution SMARCA1 c.2117G>A p.R706H 1 Nonrecurrent X Specific Non Disease gene 1265 Missense Substitution ARMCX3 c.1004T>A p.F335Y 1 Nonrecurrent X Specific Non Disease gene 11.843

262 Missense Substitution CDKL5 c.2372A>C p.Q791P 16 Recurrent X Specific XLMR gene 11.761802 Missense Substitution ZBTB33 c.1478A>G p.Y493C 1 Nonrecurrent X Specific Non Disease gene 11.7451803 Missense Substitution ZBTB33 c.1595C>G p.P532R 1 Nonrecurrent X Specific Non Disease gene 11.745336 Missense Substitution CUL4B c.638C>T p.T213I 1 Nonrecurrent X Specific XLMR gene 11.376116 Missense Substitution ASB12 c.712G>T p.G238C 1 Nonrecurrent X Specific Non Disease gene 11448 Missense Substitution DRP2 c.1508C>T p.T503M 1 Nonrecurrent X Specific Non Disease gene 11449 Missense Substitution DRP2 c.430G>A p.A144T 1 Nonrecurrent X Specific Non Disease gene 11698 Missense Substitution GSPT2 c.793A>G p.K265E 1 Nonrecurrent X Specific Non Disease gene 11726 Missense Substitution HCFC1 c.2033C>T p.S678L 1 Nonrecurrent X Specific Non Disease gene 11727 Missense Substitution HCFC1 c.2299G>A p.A767T 1 Nonrecurrent X Specific Non Disease gene 11768 Missense Substitution HUWE1 c.12229C>T p.R4077C 1 Nonrecurrent X Specific XLMR gene 11769 Missense Substitution HUWE1 c.11707C>T p.R3903W 1 Nonrecurrent X Specific XLMR gene 11770 Missense Substitution HUWE1 c.8612G>A p.R2871H 1 Nonrecurrent X Specific XLMR gene 11

1526 Missense Substitution SLC6A14 c.1010A>G p.N337S 1 Nonrecurrent X Specific Non Disease gene 111778 Missense Substitution XK c.872A>G p.N291S 1 Nonrecurrent X Specific Disease gene 11785 Missense Substitution IGBP1 c.608T>C p.I203T 1 Nonrecurrent X Specific XLMR gene 10.908204 Missense Substitution BIRC4 c.769C>G p.P257A 1 Nonrecurrent X Specific Disease gene 10.716140 Missense Substitution ATP11C c.840A>T p.K280N 1 Nonrecurrent X Specific Non Disease gene 10.686

1657 Missense Substitution THOC2 c.1076T>C p.L359P 1 Nonrecurrent X Specific Non Disease gene 10.5281022 Missense Substitution MED12 c.4C>T p.R2W 1 Nonrecurrent X Specific XLMR gene 10.40215 Missense Substitution ACSL4 c.1382C>T p.P461L 1 Nonrecurrent X Specific XLMR gene 10.346

450 Missense Substitution DRP2 c.193G>C p.V65L 19 Recurrent X Specific Non Disease gene 10.2191058 Missense Substitution MTM1 c.899C>T p.A300V 1 Nonrecurrent X Specific XLMR gene 10.192290 Missense Substitution CLDN2 c.56T>C p.L19S 1 Nonrecurrent X Specific Non Disease gene 10.128115 Missense Substitution ASB11 c.787A>G p.S263G 6 Recurrent X Specific Non Disease gene 10.081263 Missense Substitution CDKL5 c.2200A>G p.T734A 1 Nonrecurrent X Specific XLMR gene 10.06610 Missense Substitution ACOT9 c.1037A>G p.Q346R 1 Nonrecurrent X Specific Non Disease gene 1011 Missense Substitution ACOT9 c.1196A>G p.K399R 1 Nonrecurrent X Specific Non Disease gene 10

378 Missense Substitution CXorf38 c.629C>T p.T210M 4 Recurrent X Specific Non Disease gene 10548 Missense Substitution FLNA c.3814C>T p.R1272C 1 Nonrecurrent X Specific XLMR gene 10564 Missense Substitution FRMD7 c.842C>T p.S281L 9 Recurrent X Specific Non Disease gene 10565 Missense Substitution FRMD7 c.1474C>T p.P492S 1 Nonrecurrent X Specific Non Disease gene 101377 Missense Substitution RP11-262D11 c.1699A>G p.R567G 1 Nonrecurrent X Specific Non Disease gene 101378 Missense Substitution RP11-262D11 c.1595C>T p.T532I 7 Recurrent X Specific Non Disease gene 10141 Missense Substitution ATP11C c.2177G>A p.R726H 1 Nonrecurrent X Specific Non Disease gene 9.8931046 Missense Substitution MID2 c.1769A>C p.K590T 1 Nonrecurrent X Specific Non Disease gene 9.824845 Missense Substitution KIAA2022 c.3812T>C p.M1271T 1 Nonrecurrent X Specific Non Disease gene 9.698

1559 Missense Substitution SLITRK2 c.1801T>C p.S601P 2 Recurrent X Specific Non Disease gene 9.624451 Missense Substitution DRP2 c.171C>A p.S57R 4 Recurrent X Specific Non Disease gene 9.57319 Missense Substitution MED14 c.2860T>C p.Y954H 2 Recurrent X Specific Non Disease gene 9.5361023 Missense Substitution MED12 c.3425G>A p.R1142H 1 Nonrecurrent X Specific XLMR gene 9.534Nature Genetics: doi:10.1038/ng.367




Score1199 Missense Substitution PCDH19 c.1232G>A p.R411Q 1 Nonrecurrent X Specific Non Disease gene 9.486142 Missense Substitution ATP11C c.1303A>G p.K435E 1 Nonrecurrent X Specific Non Disease gene 9.399846 Missense Substitution KIAA2022 c.2801A>G p.N934S 2 Recurrent X Specific Non Disease gene 9.16512 Missense Substitution ACOT9 c.907G>C p.E303Q 5 Recurrent X Specific Non Disease gene 9.08

1103 Missense Substitution NHS c.2530G>A p.A844T 1 Nonrecurrent X Specific XLMR gene 9.035666 Missense Substitution GPR23 c.133G>A p.V45I 1 Nonrecurrent X Specific Non Disease gene 9758 Missense Substitution HNRPH2 c.769T>A p.S257T 1 Nonrecurrent X Specific Non Disease gene 9780 Missense Substitution IDS c.727C>T p.P243S 1 Nonrecurrent X Specific XLMR gene 9809 Missense Substitution IQSEC2 c.2578C>T p.R860W 1 Nonrecurrent X Specific Non Disease gene 9810 Missense Substitution IQSEC2 c.2264G>A p.R755Q 1 Nonrecurrent X Specific Non Disease gene 91288 Missense Substitution POF1B c.986G>A p.R329Q 1 Nonrecurrent X Specific Disease gene 91418 Missense Substitution MOSPD2 c.719G>A p.S240N 3 Recurrent X Specific Non Disease gene 9847 Missense Substitution KIAA2022 c.133G>A p.A45T 1 Nonrecurrent X Specific Non Disease gene 8.983

1379 Missense Substitution RP11-262D11 c.1667G>A p.R556Q 1 Nonrecurrent X Specific Non Disease gene 8.9421 Missense Substitution AGTR2 c.62G>T p.G21V 1 Nonrecurrent X Specific XLMR gene 8.745

293 Missense Substitution CNGA2 c.416G>T p.W139L 23 Recurrent X Specific Non Disease gene 8.6971051 Missense Substitution MPP1 c.200G>A p.R67Q 1 Nonrecurrent X Specific Non Disease gene 8.68859 Missense Substitution ARHGEF6 c.362G>A p.R121H 1 Nonrecurrent X Specific XLMR gene 8.668

143 Missense Substitution ATP11C c.1750A>G p.T584A 1 Nonrecurrent X Specific Non Disease gene 8.632199 Missense Substitution BGN c.257A>G p.K86R 2 Recurrent X Specific Non Disease gene 8.6161549 Missense Substitution SLC9A6 c.1607G>A p.R536Q 1 Nonrecurrent X Specific XLMR gene 8.582291 Missense Substitution CLIC2 c.478C>G p.P160A 1 Nonrecurrent X Specific Non Disease gene 8.58624 Missense Substitution GPC4 c.1276G>T p.G426W 1 Nonrecurrent X Specific Non Disease gene 8.535625 Missense Substitution GPC4 c.1173G>T p.E391D 54 Recurrent X Specific Non Disease gene 8.535144 Missense Substitution ATP11C c.342T>G p.C114W 155 Recurrent X Specific Non Disease gene 8.46334 Missense Substitution AMOT c.1261G>A p.G421R 1 Nonrecurrent X Specific Non Disease gene 8.46

1169 Missense Substitution OTC c.137A>G p.K46R 33 Recurrent X Specific XLMR gene 8.46284 Missense Substitution CLCN4 c.949G>A p.V317I 1 Nonrecurrent X Specific Non Disease gene 8.3591691 Missense Substitution TRPC5 c.401C>T p.T134M 2 Recurrent X Specific Non Disease gene 8.352496 Missense Substitution F9 c.907C>T p.H303Y 1 Nonrecurrent X Specific Disease gene 8.334803 Missense Substitution IL1RAPL2 c.317C>T p.A106V 1 Nonrecurrent X Specific Non Disease gene 8.328333 Missense Substitution CTPS2 c.308G>A p.R103H 2 Recurrent X Specific Non Disease gene 8.11344 Missense Substitution CXorf15 c.894A>C p.E298D 1 Nonrecurrent X Specific Non Disease gene 8557 Missense Substitution FOXO4 c.751G>A p.D251N 1 Nonrecurrent X Specific Non Disease gene 8588 Missense Substitution G6PD c.582C>G p.D194E 1 Nonrecurrent X Specific Disease gene 8589 Missense Substitution G6PD c.311G>A p.R104H 1 Nonrecurrent X Specific Disease gene 8985 Missense Substitution MAGEH1 c.206C>T p.S69L 1 Nonrecurrent X Specific Non Disease gene 81353 Missense Substitution RENBP c.968T>C p.F323S 1 Nonrecurrent X Specific Non Disease gene 81354 Missense Substitution RENBP c.1027G>A p.A343T 1 Nonrecurrent X Specific Non Disease gene 81642 Missense Substitution TEX11 c.448C>T p.P150S 1 Nonrecurrent X Specific Non Disease gene 81785 Missense Substitution XPNPEP2 c.644C>T p.T215I 2 Recurrent X Specific Disease gene 81786 Missense Substitution XPNPEP2 c.373A>T p.M125L 1 Nonrecurrent X Specific Disease gene 81812 Missense Substitution ZDHHC9 c.442C>T p.R148W 1 Nonrecurrent X Specific XLMR gene 81813 Missense Substitution ZDHHC9 c.448C>T p.P150S 1 Nonrecurrent X Specific XLMR gene 81292 Missense Substitution POLA1 c.3604G>C p.D1202H 1 Nonrecurrent X Specific Non Disease gene 7.983771 Missense Substitution HUWE1 c.1448A>G p.N483S 3 Recurrent X Specific XLMR gene 7.843433 Missense Substitution DLG3 c.304G>A p.G102S 1 Nonrecurrent X Specific XLMR gene 7.77294 Missense Substitution CNGA2 c.634C>G p.R212G 1 Nonrecurrent X Specific Non Disease gene 7.683804 Missense Substitution IL1RAPL2 c.1916A>G p.H639R 1 Nonrecurrent X Specific Non Disease gene 7.644302 Missense Substitution CNKSR2 c.592A>G p.I198V 1 Nonrecurrent X Specific Non Disease gene 7.616205 Missense Substitution BIRC4 c.1268A>C p.Q423P 58 Recurrent X Specific Disease gene 7.548

1692 Missense Substitution TRPC5 c.2212C>A p.L738I 1 Nonrecurrent X Specific Non Disease gene 7.452330 Missense Substitution CSTF2 c.683C>G p.A228G 1 Nonrecurrent X Specific Non Disease gene 7.389

1519 Missense Substitution SLC25A5 c.332T>G p.L111R 93 Recurrent X Specific Non Disease gene 7.34238 Missense Substitution CAPN6 c.829G>C p.V277L 6 Recurrent X Specific Non Disease gene 7.2961293 Missense Substitution POLA1 c.2799C>G p.D933E 1 Nonrecurrent X Specific Non Disease gene 7.254146 Missense Substitution ATP1B4 c.910A>T p.T304S 1 Nonrecurrent X Specific Non Disease gene 7.23608 Missense Substitution GLOD5 c.511A>G p.K171E 2 Recurrent X Specific Non Disease gene 7.184

1024 Missense Substitution MED12 c.2561A>G p.N854S 1 Nonrecurrent X Specific XLMR gene 7.182530 Missense Substitution FAM50A c.410C>T p.A137V 2 Recurrent X Specific Non Disease gene 7.09345 Missense Substitution CXorf15 c.736A>G p.I246V 2 Recurrent X Specific Non Disease gene 7.056811 Missense Substitution IQSEC2 c.2393A>C p.Q798P 1 Nonrecurrent X Specific Non Disease gene 7.03860 Missense Substitution ARHGEF6 c.992A>G p.Y331C 1 Nonrecurrent X Specific XLMR gene 7.018

186 Missense Substitution BCORL1 c.3601G>A p.E1201K 1 Nonrecurrent X Specific Non Disease gene 7187 Missense Substitution BCORL1 c.3143G>A p.R1048Q 1 Nonrecurrent X Specific Non Disease gene 7188 Missense Substitution BCORL1 c.3158A>G p.K1053R 2 Recurrent X Specific Non Disease gene 7247 Missense Substitution CCDC22 c.1288G>A p.A430T 1 Nonrecurrent X Specific Non Disease gene 7571 Missense Substitution FRMPD3 c.1745G>A p.S582N 1 Nonrecurrent X Specific Non Disease gene 7591 Missense Substitution GAB3 c.110G>A p.R37H 1 Nonrecurrent X Specific Non Disease gene 7613 Missense Substitution GLRA4 c.313C>T p.P105S 1 Nonrecurrent X Specific Non Disease gene 7668 Missense Substitution GPR50 c.1478G>A p.S493N 11 Recurrent X Specific Non Disease gene 7709 Missense Substitution GUCY2F c.2380G>A p.E794K 1 Nonrecurrent X Specific Non Disease gene 7710 Missense Substitution GUCY2F c.1883G>A p.R628Q 4 Recurrent X Specific Non Disease gene 7711 Missense Substitution GUCY2F c.2029G>C p.V677L 1 Nonrecurrent X Specific Non Disease gene 7862 Missense Substitution L1CAM c.2302G>A p.V768I 2 Recurrent X Specific XLMR gene 7863 Missense Substitution L1CAM c.2583C>G p.H861Q 1 Nonrecurrent X Specific XLMR gene 7864 Missense Substitution L1CAM c.3370A>T p.I1124F 1 Nonrecurrent X Specific XLMR gene 71388 Missense Substitution #N/A c.1706T>A p.V569D 1 Nonrecurrent X Specific Non Disease gene 71606 Missense Substitution SYTL5 c.1105T>C p.S369P 5 Recurrent X Specific Non Disease gene 71607 Missense Substitution SYTL5 c.1334C>T p.A445V 1 Nonrecurrent X Specific Non Disease gene 7885 Missense Substitution LRCH2 c.2092C>T p.P698S 1 Nonrecurrent X Specific Non Disease gene 6.9281323 Missense Substitution PRRG3 c.458A>G p.N153S 177 Recurrent X Specific Non Disease gene 6.8511181 Missense Substitution PABPC5 c.151C>G p.R51G 2 Recurrent X Specific Non Disease gene 6.842986 Missense Substitution MAGEH1 c.62A>C p.N21T 1 Nonrecurrent X Specific Non Disease gene 6.816206 Missense Substitution BIRC4 c.1411T>C p.C471R 28 Recurrent X Specific Disease gene 6.744207 Missense Substitution BIRC4 c.1456A>G p.T486A 22 Recurrent X Specific Disease gene 6.744

1452 Missense Substitution RPS6KA6 c.2074G>A p.D692N 12 Recurrent X Specific Non Disease gene 6.664Nature Genetics: doi:10.1038/ng.367




Score1787 Missense Substitution XPNPEP2 c.667G>A p.V223I 2 Recurrent X Specific Disease gene 6.592848 Missense Substitution KIAA2022 c.206C>G p.S69C 2 Recurrent X Specific Non Disease gene 6.591295 Missense Substitution CNGA2 c.1987G>A p.E663K 11 Recurrent X Specific Non Disease gene 6.5651372 Missense Substitution RNF113A c.1006G>A p.D336N 3 Recurrent X Specific Non Disease gene 6.49626 Missense Substitution GPC4 c.1325C>T p.A442V 47 Recurrent X Specific Non Disease gene 6.4857 Missense Substitution ARHGAP6 c.2373C>G p.D791E 34 Recurrent X Specific Non Disease gene 6.462

1289 Missense Substitution POF1B c.716G>C p.C239S 1 Nonrecurrent X Specific Disease gene 6.45353 Missense Substitution ARAF c.542C>A p.T181N 1 Nonrecurrent X Specific Non Disease gene 6.435

781 Missense Substitution IDS c.1144G>C p.D382H 1 Nonrecurrent X Specific XLMR gene 6.426254 Missense Substitution CD40LG c.655G>A p.G219R 3 Recurrent X Specific Disease gene 6.42504 Missense Substitution FAM120C c.1298G>A p.R433Q 1 Nonrecurrent X Specific Non Disease gene 6.3761828 Missense Substitution ZNF275 c.499G>A p.V167I 2 Recurrent X Specific Non Disease gene 6.3761104 Missense Substitution NHS c.3955T>C p.F1319L 9 Recurrent X Specific XLMR gene 6.3571014 Missense Substitution MBNL3 c.364T>G p.S122A 1 Nonrecurrent X Specific Non Disease gene 6.354218 Missense Substitution BMX c.851C>T p.S284L 1 Nonrecurrent X Specific Non Disease gene 6.3181147 Missense Substitution ODZ1 c.3709C>T p.P1237S 1 Nonrecurrent X Specific Non Disease gene 6.255566 Missense Substitution FRMD7 c.1403G>A p.R468H 15 Recurrent X Specific Non Disease gene 6.18712 Missense Substitution GUCY2F c.1140G>T p.Q380H 1 Nonrecurrent X Specific Non Disease gene 6.153

1525 Missense Substitution SLC38A5 c.1352T>C p.M451T 13 Recurrent X Specific Non Disease gene 6.097607 Missense Substitution GLA c.937G>T p.D313Y 2 Recurrent X Specific Disease gene 6.055

1608 Missense Substitution SYTL5 c.904C>T p.R302C 11 Recurrent X Specific Non Disease gene 6.013307 Missense Substitution COL4A6 c.1379G>T p.R460L 1 Nonrecurrent X Specific Disease gene 618 Missense Substitution AFF2 c.1834C>G p.H612D 1 Nonrecurrent X Specific XLMR gene 6

304 Missense Substitution COL4A5 c.1992G>T p.K664N 3 Recurrent X Specific Disease gene 6308 Missense Substitution COL4A6 c.3886C>T p.P1296S 1 Nonrecurrent X Specific Disease gene 6309 Missense Substitution COL4A6 c.3481A>G p.I1161V 9 Recurrent X Specific Disease gene 6375 Missense Substitution CXorf34 c.1009G>A p.G337R 13 Recurrent X Specific Non Disease gene 6376 Missense Substitution CXorf34 c.333A>C p.L111F 7 Recurrent X Specific Non Disease gene 6619 Missense Substitution GNL3L c.1145A>C p.E382A 1 Nonrecurrent X Specific Non Disease gene 6620 Missense Substitution GNL3L c.1255A>G p.K419E 1 Nonrecurrent X Specific Non Disease gene 6621 Missense Substitution GNL3L c.1106G>A p.R369H 1 Nonrecurrent X Specific Non Disease gene 6630 Missense Substitution GPR101 c.1127T>C p.L376P 21 Recurrent X Specific Non Disease gene 6631 Missense Substitution GPR101 c.476C>T p.A159V 1 Nonrecurrent X Specific Non Disease gene 6632 Missense Substitution GPR101 c.370G>T p.V124L 96 Recurrent X Specific Non Disease gene 6688 Missense Substitution GRIPAP1 c.662A>C p.E221A 3 Recurrent X Specific Non Disease gene 6982 Missense Substitution MAGEE2 c.562C>A p.L188I 1 Nonrecurrent X Specific Non Disease gene 61015 Missense Substitution MCF2 c.1780A>G p.N594D 1 Nonrecurrent X Specific Non Disease gene 61213 Missense Substitution PGK1 c.241G>T p.V81F 2 Recurrent X Specific XLMR gene 61214 Missense Substitution PGK1 c.674A>G p.N225S 1 Nonrecurrent X Specific XLMR gene 6147 Missense Substitution ATP1B4 c.23G>C p.R8T 1 Nonrecurrent X Specific Non Disease gene 5.99850 Missense Substitution KIF4A c.1322C>T p.A441V 1 Nonrecurrent X Specific Non Disease gene 5.964772 Missense Substitution HUWE1 c.10358G>A p.G3453D 1 Nonrecurrent X Specific XLMR gene 5.907728 Missense Substitution HCFC1 c.4954T>C p.S1652P 4 Recurrent X Specific Non Disease gene 5.8191326 Missense Substitution PSMD10 c.652T>A p.L218I 1 Nonrecurrent X Specific Non Disease gene 5.81413 Missense Substitution ACOT9 c.566A>G p.H189R 1 Nonrecurrent X Specific Non Disease gene 5.76

1375 Missense Substitution RNF128 c.610A>T p.N204Y 1 Nonrecurrent X Specific Non Disease gene 5.742614 Missense Substitution GLRA4 c.253A>G p.I85V 165 Recurrent X Specific Non Disease gene 5.733833 Missense Substitution JARID1C c.2138C>T p.T713M 1 Nonrecurrent X Specific XLMR gene 5.691164 Missense Substitution OPHN1 c.1955C>T p.S652F 1 Nonrecurrent X Specific XLMR gene 5.67545 Missense Substitution FHL1 c.823G>A p.D275N 1 Nonrecurrent X Specific Non Disease gene 5.61669 Missense Substitution GPR50 c.1505C>T p.T502I 2 Recurrent X Specific Non Disease gene 5.607782 Missense Substitution IDS c.263G>A p.R88H 1 Nonrecurrent X Specific XLMR gene 5.58760 Missense Substitution HS6ST2 c.1090G>T p.A364S 3 Recurrent X Specific Non Disease gene 5.472761 Missense Substitution HS6ST2 c.973G>A p.E325K 6 Recurrent X Specific Non Disease gene 5.47248 Missense Substitution APOO c.133G>T p.V45F 1 Nonrecurrent X Specific Non Disease gene 5.46

1105 Missense Substitution NHS c.3866G>T p.G1289V 1 Nonrecurrent X Specific XLMR gene 5.447511 Missense Substitution FAM123B c.742C>A p.P248T 1 Nonrecurrent X Specific Non Disease gene 5.4081266 Missense Substitution PLXNA3 c.1298G>A p.R433H 3 Recurrent X Specific Non Disease gene 5.341324 Missense Substitution PRRG3 c.464C>T p.P155L 3 Recurrent X Specific Non Disease gene 5.317219 Missense Substitution BMX c.506G>A p.R169K 1 Nonrecurrent X Specific Non Disease gene 5.31208 Missense Substitution BIRC4 c.1387G>A p.V463I 28 Recurrent X Specific Disease gene 5.292

1749 Missense Substitution WDR13 c.145G>C p.A49P 1 Nonrecurrent X Specific Non Disease gene 5.28865 Missense Substitution L1CAM c.1319A>G p.Q440R 1 Nonrecurrent X Specific XLMR gene 5.222

1641 Missense Substitution TCEAL8 c.125T>C p.V42A 1 Nonrecurrent X Specific Non Disease gene 5.215851 Missense Substitution KIF4A c.1265T>G p.L422W 8 Recurrent X Specific Non Disease gene 5.173970 Missense Substitution MAGED1 c.1081C>T p.P361S 1 Nonrecurrent X Specific Non Disease gene 5.136713 Missense Substitution GUCY2F c.688C>T p.R230W 2 Recurrent X Specific Non Disease gene 5.089886 Missense Substitution LRCH2 c.781G>A p.E261K 3 Recurrent X Specific Non Disease gene 5.0561267 Missense Substitution PLXNA3 c.2589C>G p.D863E 9 Recurrent X Specific Non Disease gene 5.0281759 Missense Substitution WDR44 c.865G>A p.A289T 18 Recurrent X Specific Non Disease gene 5.026

6 Missense Substitution ACE2 c.2158A>G p.N720D 6 Recurrent X Specific Non Disease gene 54 Missense Substitution ACE2 c.1514A>G p.H505R 1 Nonrecurrent X Specific Non Disease gene 55 Missense Substitution ACE2 c.77A>G p.K26R 1 Nonrecurrent X Specific Non Disease gene 57 Missense Substitution ACE2 c.149A>T p.Y50F 1 Nonrecurrent X Specific Non Disease gene 5

54 Missense Substitution ARHGAP4 c.157A>G p.M53V 1 Nonrecurrent X Specific Non Disease gene 5229 Missense Substitution CACNA1F c.2417C>T p.A806V 1 Nonrecurrent X Specific Disease gene 5230 Missense Substitution CACNA1F c.1556G>A p.R519Q 1 Nonrecurrent X Specific Disease gene 5435 Missense Substitution DMD c.626C>T p.S209F 1 Nonrecurrent X Specific XLMR gene 5436 Missense Substitution DMD c.1349A>T p.E450V 3 Recurrent X Specific XLMR gene 5437 Missense Substitution DMD c.1354A>G p.N452D 3 Recurrent X Specific XLMR gene 5514 Missense Substitution FAM133A c.199G>A p.E67K 12 Recurrent X Specific Non Disease gene 5866 Missense Substitution LAMP2 c.1171G>A p.V391I 1 Nonrecurrent X Specific XLMR gene 51355 Missense Substitution RENBP c.50A>G p.Q17R 1 Nonrecurrent X Specific Non Disease gene 4.9841356 Missense Substitution RENBP c.295C>A p.P99T 1 Nonrecurrent X Specific Non Disease gene 4.984602 Missense Substitution GDPD2 c.7G>A p.E3K 1 Nonrecurrent X Specific Non Disease gene 4.963

1788 Missense Substitution XPNPEP2 c.988A>G p.M330V 1 Nonrecurrent X Specific Disease gene 4.96592 Missense Substitution GAB3 c.709C>T p.P237S 12 Recurrent X Specific Non Disease gene 4.935Nature Genetics: doi:10.1038/ng.367




Score1148 Missense Substitution ODZ1 c.1118T>C p.M373T 4 Recurrent X Specific Non Disease gene 4.9051217 Missense Substitution PGRMC1 c.574C>T p.R192W 1 Nonrecurrent X Specific Non Disease gene 4.8511218 Missense Substitution PGRMC1 c.494A>G p.H165R 2 Recurrent X Specific Non Disease gene 4.8511527 Missense Substitution SLC6A14 c.99T>G p.N33K 1 Nonrecurrent X Specific Non Disease gene 4.84843 Missense Substitution KCNE1L c.97C>T p.P33S 17 Recurrent X Specific Non Disease gene 4.8021394 Missense Substitution #N/A c.797A>C p.Y266S 116 Recurrent X Specific Non Disease gene 4.776296 Missense Substitution CNGA2 c.338G>T p.G113V 2 Recurrent X Specific Non Disease gene 4.771270 Missense Substitution CENPI c.167A>G p.H56R 1 Nonrecurrent X Specific Non Disease gene 4.752180 Missense Substitution BCOR c.4789G>A p.D1597N 1 Nonrecurrent X Specific XLMR gene 4.739497 Missense Substitution F9 c.580A>G p.T194A 30 Recurrent X Specific Disease gene 4.734603 Missense Substitution GDPD2 c.1483G>A p.V495I 2 Recurrent X Specific Non Disease gene 4.73242 Missense Substitution APEX2 c.968C>T p.P323L 1 Nonrecurrent X Specific Non Disease gene 4.608549 Missense Substitution FLNA c.2162C>T p.A721V 1 Nonrecurrent X Specific XLMR gene 4.57531 Missense Substitution FAM50A c.956T>G p.F319C 1 Nonrecurrent X Specific Non Disease gene 4.53622 Missense Substitution GNL3L c.1501G>T p.A501S 1 Nonrecurrent X Specific Non Disease gene 4.4941016 Missense Substitution MCF2 c.1004G>A p.R335H 1 Nonrecurrent X Specific Non Disease gene 4.494149 Missense Substitution ATP2B3 c.1687G>A p.E563K 1 Nonrecurrent X Specific Non Disease gene 4.488750 Missense Substitution HEPH c.1531C>T p.P511S 1 Nonrecurrent X Specific Non Disease gene 4.48835 Missense Substitution AMOT c.1576A>G p.T526A 1 Nonrecurrent X Specific Non Disease gene 4.476

1165 Missense Substitution OPHN1 c.434T>C p.L145P 1 Nonrecurrent X Specific XLMR gene 4.464714 Missense Substitution GUCY2F c.479T>A p.I160N 2 Recurrent X Specific Non Disease gene 4.459438 Missense Substitution DMD c.1382A>G p.H461R 5 Recurrent X Specific XLMR gene 4.305887 Missense Substitution LRCH2 c.1628C>T p.S543F 1 Nonrecurrent X Specific Non Disease gene 4.216

1442 Missense Substitution RPL10 c.605A>G p.N202S 119 Recurrent X Specific XLMR gene 4.2021331 Missense Substitution RAB33A c.16C>G p.L6V 2 Recurrent X Specific Non Disease gene 4.2572 Missense Substitution FRMPD3 c.3842C>T p.S1281L 1 Nonrecurrent X Specific Non Disease gene 4.165852 Missense Substitution KIF4A c.2079C>A p.F693L 1 Nonrecurrent X Specific Non Disease gene 4.0391300 Missense Substitution PPP1R3F c.1384T>G p.S462A 1 Nonrecurrent X Specific Non Disease gene 4.032377 Missense Substitution CXorf36 c.383G>A p.R128K 67 Recurrent X Specific Non Disease gene 4.01383 Missense Substitution CXorf45 c.875C>T p.S292F 1 Nonrecurrent X Specific Non Disease gene 4392 Missense Substitution CXorf6 c.1547C>T p.T516M 1 Nonrecurrent X Specific Disease gene 4393 Missense Substitution CXorf6 c.1480C>T p.P494S 1 Nonrecurrent X Specific Disease gene 4394 Missense Substitution CXorf6 c.856C>T p.P286S 17 Recurrent X Specific Disease gene 4461 Missense Substitution EDA2R c.170G>A p.R57K 140 Recurrent X Specific Non Disease gene 4683 Missense Substitution GPRASP2 c.519A>C p.R173S 2 Recurrent X Specific Non Disease gene 4763 Missense Substitution HTATSF1 c.251G>A p.S84N 1 Nonrecurrent X Specific Non Disease gene 4787 Missense Substitution IGSF1 c.2939T>C p.V980A 1 Nonrecurrent X Specific Non Disease gene 4788 Missense Substitution IGSF1 c.498G>C p.E166D 1 Nonrecurrent X Specific Non Disease gene 4789 Missense Substitution IGSF1 c.765G>A p.M255I 1 Nonrecurrent X Specific Non Disease gene 4664 Missense Substitution GPR174 c.484T>C p.S162P 101 Recurrent X Specific Non Disease gene 3.948715 Missense Substitution GUCY2F c.851T>C p.L284P 3 Recurrent X Specific Non Disease gene 3.941590 Missense Substitution G6PD c.844G>C p.D282H 1 Nonrecurrent X Specific Disease gene 3.856878 Missense Substitution LONRF3 c.569G>C p.R190P 1 Nonrecurrent X Specific Non Disease gene 3.843381 Missense Substitution HDX c.1190T>C p.F397S 31 Recurrent X Specific Non Disease gene 3.773231 Missense Substitution CACNA1F c.5789G>A p.R1930H 5 Recurrent X Specific Disease gene 3.745

1609 Missense Substitution SYTL5 c.823A>G p.I275V 21 Recurrent X Specific Non Disease gene 3.7451369 Missense Substitution RHGXX_HUMAN c.1532A>G p.H511R 1 Nonrecurrent X Specific Non Disease gene 3.7261215 Missense Substitution PGK1 c.914C>G p.S305C 1 Nonrecurrent X Specific XLMR gene 3.672289 Missense Substitution CLCN5 c.384C>G p.S128R 1 Nonrecurrent X Specific Disease gene 3.632505 Missense Substitution FAM120C c.882G>A p.M294I 1 Nonrecurrent X Specific Non Disease gene 3.592245 Missense Substitution CCDC120 c.1778G>A p.R593H 1 Nonrecurrent X Specific Non Disease gene 3.581301 Missense Substitution PPP1R3F c.1399G>A p.G467R 1 Nonrecurrent X Specific Non Disease gene 3.514310 Missense Substitution COL4A6 c.323C>T p.P108L 1 Nonrecurrent X Specific Disease gene 3.486277 Missense Substitution CHM c.265A>T p.S89C 5 Recurrent X Specific Disease gene 3.479278 Missense Substitution CHM c.1100G>A p.R367Q 1 Nonrecurrent X Specific Disease gene 3.479659 Missense Substitution GPR119 c.659A>T p.D220V 1 Nonrecurrent X Specific Non Disease gene 3.423660 Missense Substitution GPR119 c.706C>G p.L236V 1 Nonrecurrent X Specific Non Disease gene 3.423512 Missense Substitution FAM123B c.477T>G p.F159L 3 Recurrent X Specific Non Disease gene 3.408665 Missense Substitution GPR174 c.263C>A p.P88H 1 Nonrecurrent X Specific Non Disease gene 3.336439 Missense Substitution DMD c.1565G>A p.R522Q 1 Nonrecurrent X Specific XLMR gene 3.315517 Missense Substitution FAM46D c.555C>G p.D185E 138 Recurrent X Specific Non Disease gene 3.2881166 Missense Substitution OPHN1 c.2168A>G p.D723G 1 Nonrecurrent X Specific XLMR gene 3.2671017 Missense Substitution MCF2 c.1705C>T p.H569Y 9 Recurrent X Specific Non Disease gene 3.216867 Missense Substitution LAMP2 c.299C>T p.A100V 1 Nonrecurrent X Specific XLMR gene 3.215947 Missense Substitution MAGEB6 c.299C>T p.A100V 9 Recurrent X Specific Non Disease gene 3.215998 Missense Substitution MAP7D2 c.545A>G p.N182S 41 Recurrent X Specific Non Disease gene 3.172615 Missense Substitution GLRA4 c.432G>C p.E144D 1 Nonrecurrent X Specific Non Disease gene 3.122766 Missense Substitution HTR2C c.68G>C p.C23S 19 Recurrent X Specific Non Disease gene 3.03327 Missense Substitution AKAP4 c.2312A>C p.Q771P 1 Nonrecurrent X Specific Non Disease gene 3

274 Missense Substitution CFP c.359T>C p.L120P 1 Nonrecurrent X Specific Disease gene 3275 Missense Substitution CFP c.1187G>A p.G396E 1 Nonrecurrent X Specific Disease gene 3558 Missense Substitution FOXP3 c.100G>A p.D34N 2 Recurrent X Specific Disease gene 3605 Missense Substitution GEMIN8 c.91G>T p.A31S 2 Recurrent X Specific Non Disease gene 3874 Missense Substitution LAS1L c.806C>G p.A269G 1 Nonrecurrent X Specific Non Disease gene 31061 Missense Substitution MTMR8 c.217C>T p.R73C 1 Nonrecurrent X Specific Non Disease gene 31062 Missense Substitution MTMR8 c.130G>A p.A44T 1 Nonrecurrent X Specific Non Disease gene 31173 Missense Substitution P2RY4 c.739A>G p.I247V 5 Recurrent X Specific Non Disease gene 31246 Missense Substitution PLCXD1 c.236C>G p.P79R 2 Recurrent PAR Non Disease gene 31247 Missense Substitution PLCXD1 c.137A>G p.D46G 2 Recurrent PAR Non Disease gene 31248 Missense Substitution PLCXD1 c.512T>C p.I171T 1 Nonrecurrent PAR Non Disease gene 31616 Missense Substitution TAF1 c.3118G>A p.G1040R 1 Nonrecurrent X Specific Disease gene 31617 Missense Substitution TAF1 c.839G>C p.C280S 1 Nonrecurrent X Specific Disease gene 31618 Missense Substitution TAF1 c.923A>G p.D308G 1 Nonrecurrent X Specific Disease gene 31619 Missense Substitution TAF1 c.805C>G p.L269V 2 Recurrent X Specific Disease gene 31708 Missense Substitution UCHL5IP c.44T>A p.L15Q 1 Nonrecurrent X Specific Non Disease gene 31709 Missense Substitution UCHL5IP c.467G>T p.R156L 1 Nonrecurrent X Specific Non Disease gene 31710 Missense Substitution UCHL5IP c.673A>C p.M225L 1 Nonrecurrent X Specific Non Disease gene 3Nature Genetics: doi:10.1038/ng.367




Score816 Missense Substitution IRS4 c.2635C>G p.H879D 36 Recurrent X Specific Non Disease gene 2.945790 Missense Substitution IGSF1 c.3228G>C p.M1076I 1 Nonrecurrent X Specific Non Disease gene 2.944541 Missense Substitution FGD1 c.110C>T p.A37V 1 Nonrecurrent X Specific XLMR gene 2.94593 Missense Substitution GAB3 c.1088T>C p.L363S 1 Nonrecurrent X Specific Non Disease gene 2.9191629 Missense Substitution TBC1D8B c.2168A>G p.N723S 1 Nonrecurrent X Specific Non Disease gene 2.919311 Missense Substitution COL4A6 c.3760G>T p.A1254S 1 Nonrecurrent X Specific Disease gene 2.911655 Missense Substitution TFE3 c.416C>T p.A139V 1 Nonrecurrent X Specific Non Disease gene 2.908271 Missense Substitution CENPI c.1667T>C p.F556S 1 Nonrecurrent X Specific Non Disease gene 2.898221 Missense Substitution BRWD3 c.4786A>G p.K1596E 1 Nonrecurrent X Specific XLMR gene 2.862429 Missense Substitution DIAPH2 c.3106C>A p.R1036S 1 Nonrecurrent X Specific Disease gene 2.845

1048 Missense Substitution MORC4 c.508G>A p.V170M 1 Nonrecurrent X Specific Non Disease gene 2.821419 Missense Substitution MOSPD2 c.15C>G p.H5Q 1 Nonrecurrent X Specific Non Disease gene 2.682791 Missense Substitution IGSF1 c.1184T>G p.L395R 1 Nonrecurrent X Specific Non Disease gene 2.672189 Missense Substitution BCORL1 c.625G>A p.G209S 17 Recurrent X Specific Non Disease gene 2.66751 Missense Substitution HEPH c.1783G>A p.A595T 8 Recurrent X Specific Non Disease gene 2.544752 Missense Substitution HEPH c.3247G>T p.V1083L 1 Nonrecurrent X Specific Non Disease gene 2.5261630 Missense Substitution TBC1D8B c.3187G>A p.E1063K 1 Nonrecurrent X Specific Non Disease gene 2.52573 Missense Substitution FRMPD3 c.4322C>T p.S1441F 1 Nonrecurrent X Specific Non Disease gene 2.4851176 Missense Substitution P2RY4 c.533A>C p.N178T 27 Recurrent X Specific Non Disease gene 2.4761373 Missense Substitution RNF12 c.533A>C p.N178T 2 Recurrent X Specific Non Disease gene 2.476764 Missense Substitution HTATSF1 c.1433G>C p.G478A 1 Nonrecurrent X Specific Non Disease gene 2.461244 Missense Substitution PJA1 c.731G>A p.S244N 24 Recurrent X Specific Non Disease gene 2.441167 Missense Substitution OPHN1 c.115G>A p.V39I 12 Recurrent X Specific XLMR gene 2.3671174 Missense Substitution P2RY4 c.700T>G p.S234A 10 Recurrent X Specific Non Disease gene 2.235689 Missense Substitution GRIPAP1 c.1394G>A p.R465Q 1 Nonrecurrent X Specific Non Disease gene 2.172305 Missense Substitution COL4A5 c.1289C>A p.A430D 1 Nonrecurrent X Specific Disease gene 2.088175 Missense Substitution AVPR2 c.35G>A p.G12E 4 Recurrent X Specific Disease gene 2.075248 Missense Substitution CCDC22 c.49A>G p.T17A 1 Nonrecurrent X Specific Non Disease gene 2.016390 Missense Substitution CXorf59 c.98A>T p.D33V 1 Nonrecurrent X Specific Non Disease gene 21336 Missense Substitution RAB40A c.134A>C p.H45P 1 Nonrecurrent X Specific Non Disease gene 216 Missense Substitution ACTRT1 c.529G>A p.A177T 7 Recurrent X Specific Non Disease gene 226 Missense Substitution AKAP14 c.386C>G p.A129G 3 Recurrent X Specific Non Disease gene 229 Missense Substitution AMELX c.227A>G p.H76R 1 Nonrecurrent X Specific Disease gene 274 Missense Substitution ARMCX6 c.463A>G p.S155G 29 Recurrent X Specific Non Disease gene 292 Missense Substitution ARSF c.1579C>T p.H527Y 16 Recurrent X Specific Non Disease gene 293 Missense Substitution ARSF c.1579C>A p.H527N 1 Nonrecurrent X Specific Non Disease gene 294 Missense Substitution ARSF c.1141G>A p.V381I 1 Nonrecurrent X Specific Non Disease gene 2

211 Missense Substitution BMP15 c.538G>A p.A180T 1 Nonrecurrent X Specific Disease gene 2212 Missense Substitution BMP15 c.413G>A p.R138H 1 Nonrecurrent X Specific Disease gene 2348 Missense Substitution CXorf20 c.1435C>G p.L479V 1 Nonrecurrent X Specific Non Disease gene 2353 Missense Substitution CXorf22 c.835C>T p.P279S 1 Nonrecurrent X Specific Non Disease gene 2354 Missense Substitution CXorf22 c.706G>A p.V236M 22 Recurrent X Specific Non Disease gene 2391 Missense Substitution CXorf59 c.314A>C p.H105P 1 Nonrecurrent X Specific Non Disease gene 2418 Missense Substitution DDX53 c.490G>A p.E164K 1 Nonrecurrent X Specific Non Disease gene 2419 Missense Substitution DDX53 c.1143G>T p.M381I 25 Recurrent X Specific Non Disease gene 2463 Missense Substitution EFHC2 c.170G>A p.C57Y 1 Nonrecurrent X Specific Non Disease gene 2464 Missense Substitution EFHC2 c.92A>G p.N31S 12 Recurrent X Specific Non Disease gene 2484 Missense Substitution EMD c.684G>T p.Q228H 1 Nonrecurrent X Specific Disease gene 2486 Missense Substitution ESX1 c.578A>G p.K193R 16 Recurrent X Specific Non Disease gene 2489 Missense Substitution F8 c.1216G>A p.A406T 1 Nonrecurrent X Specific Disease gene 2490 Missense Substitution F8 c.396A>C p.E132D 1 Nonrecurrent X Specific Disease gene 2491 Missense Substitution F8 c.6533G>A p.R2178H 1 Nonrecurrent X Specific Disease gene 2539 Missense Substitution FATE1 c.320G>A p.G107D 2 Recurrent X Specific Non Disease gene 2584 Missense Substitution FTSJ1 c.706G>A p.V236M 1 Nonrecurrent X Specific XLMR gene 2738 Missense Substitution HDAC6 c.3248G>A p.G1083D 2 Recurrent X Specific Non Disease gene 2739 Missense Substitution HDAC6 c.494G>A p.R165H 1 Nonrecurrent X Specific Non Disease gene 2740 Missense Substitution HDAC6 c.2495G>A p.R832H 3 Recurrent X Specific Non Disease gene 2741 Missense Substitution HDAC6 c.3598A>G p.N1200D 1 Nonrecurrent X Specific Non Disease gene 2798 Missense Substitution IL13RA2 c.331T>C p.W111R 1 Nonrecurrent X Specific Non Disease gene 2799 Missense Substitution IL13RA2 c.827T>C p.I276T 1 Nonrecurrent X Specific Non Disease gene 2895 Missense Substitution MAGEA1 c.187G>A p.A63T 4 Recurrent X Specific Non Disease gene 2896 Missense Substitution MAGEA1 c.215G>A p.R72Q 13 Recurrent X Specific Non Disease gene 2906 Missense Substitution MAGEA4 c.806G>A p.R269H 1 Nonrecurrent X Specific Non Disease gene 21002 Missense Substitution MAP7D3 c.1763C>T p.P588L 2 Recurrent X Specific Non Disease gene 21003 Missense Substitution MAP7D3 c.2156C>T p.A719V 1 Nonrecurrent X Specific Non Disease gene 21004 Missense Substitution MAP7D3 c.3014G>A p.R1005Q 2 Recurrent X Specific Non Disease gene 21064 Missense Substitution MUM1L1 c.20T>A p.L7Q 5 Recurrent X Specific Non Disease gene 21092 Missense Substitution NAP1L3 c.670C>G p.P224A 127 Recurrent X Specific Non Disease gene 21093 Missense Substitution NAP1L3 c.926A>G p.K309R 1 Nonrecurrent X Specific Non Disease gene 21132 Missense Substitution NSBP1 c.23G>T p.G8V 1 Nonrecurrent X Specific Non Disease gene 21136 Missense Substitution NUP62CL c.530T>C p.M177T 8 Recurrent X Specific Non Disease gene 21137 Missense Substitution NUP62CL c.216G>C p.M72I 1 Nonrecurrent X Specific Non Disease gene 21334 Missense Substitution RAB40A c.134A>T p.H45L 56 Recurrent X Specific Non Disease gene 21335 Missense Substitution RAB40A c.125C>T p.P42L 1 Nonrecurrent X Specific Non Disease gene 21337 Missense Substitution RAB40A c.485A>G p.N162S 1 Nonrecurrent X Specific Non Disease gene 21359 Missense Substitution RGAG1 c.3598T>C p.W1200R 7 Recurrent X Specific Non Disease gene 21386 Missense Substitution RP11-35F15 c.115A>G p.T39A 1 Nonrecurrent X Specific Non Disease gene 21390 Missense Substitution MAGEB10 c.149T>C p.F50S 81 Recurrent X Specific Non Disease gene 21402 Missense Substitution CXorf64 c.578T>C p.M193T 4 Recurrent X Specific Non Disease gene 21403 Missense Substitution CXorf64 c.343C>G p.L115V 19 Recurrent X Specific Non Disease gene 21407 Missense Substitution RP13-347D8 c.3347T>C p.L1116P 1 Nonrecurrent X Specific Non Disease gene 21408 Missense Substitution RP13-347D8 c.2734C>T p.P912S 1 Nonrecurrent X Specific Non Disease gene 21409 Missense Substitution RP13-347D8 c.2305A>T p.I769F 10 Recurrent X Specific Non Disease gene 21469 Missense Substitution SATL1 c.1130G>T p.S377I 2 Recurrent X Specific Non Disease gene 21470 Missense Substitution SATL1 c.1120T>A p.S374T 2 Recurrent X Specific Non Disease gene 21533 Missense Substitution SLC6A8 c.833G>T p.R278L 18 Recurrent X Specific XLMR gene 21634 Missense Substitution TCEAL2 c.374C>T p.A125V 1 Nonrecurrent X Specific Non Disease gene 2Nature Genetics: doi:10.1038/ng.367




Score1637 Missense Substitution TCEAL4 c.266G>A p.G89E 2 Recurrent X Specific Non Disease gene 21639 Missense Substitution TCEAL5 c.302G>C p.R101P 1 Nonrecurrent X Specific Non Disease gene 21640 Missense Substitution TCEAL5 c.580G>A p.G194S 1 Nonrecurrent X Specific Non Disease gene 21648 Missense Substitution TEX13A c.422A>G p.K141R 1 Nonrecurrent X Specific Non Disease gene 21676 Missense Substitution TMEM187 c.413G>A p.R138Q 1 Nonrecurrent X Specific Non Disease gene 21725 Missense Substitution USP26 c.2207C>T p.S736F 1 Nonrecurrent X Specific Disease gene 21726 Missense Substitution USP26 c.2206T>A p.S736T 1 Nonrecurrent X Specific Disease gene 2444 Missense Substitution DNASE1L1 c.364G>A p.V122I 8 Recurrent X Specific Non Disease gene 1.953

1175 Missense Substitution P2RY4 c.1054C>A p.P352T 6 Recurrent X Specific Non Disease gene 1.914506 Missense Substitution FAM120C c.2802G>A p.M934I 2 Recurrent X Specific Non Disease gene 1.912

1049 Missense Substitution MORC4 c.1639G>A p.A547T 2 Recurrent X Specific Non Disease gene 1.83879 Missense Substitution LONRF3 c.365C>G p.A122G 1 Nonrecurrent X Specific Non Disease gene 1.813360 Missense Substitution CXorf23 c.631G>T p.V211L 1 Nonrecurrent X Specific Non Disease gene 1.776983 Missense Substitution MAGEE2 c.176C>A p.S59Y 1 Nonrecurrent X Specific Non Disease gene 1.722859 Missense Substitution KLHL4 c.211C>A p.H71N 1 Nonrecurrent X Specific Non Disease gene 1.6941480 Missense Substitution SERPINA7 c.909G>T p.L303F 25 Recurrent X Specific Disease gene 1.5841481 Missense Substitution SERPINA7 c.986A>T p.Y329F 2 Recurrent X Specific Disease gene 1.5841050 Missense Substitution MORC4 c.446A>G p.N149S 4 Recurrent X Specific Non Disease gene 1.52595 Missense Substitution ARSF c.598A>G p.I200V 8 Recurrent X Specific Non Disease gene 1.52

1743 Missense Substitution VSIG1 c.439G>A p.V147I 7 Recurrent X Specific Non Disease gene 1.518465 Missense Substitution EFHC2 c.1519G>C p.E507Q 1 Nonrecurrent X Specific Non Disease gene 1.472385 Missense Substitution CXorf57 c.2279A>G p.H760R 1 Nonrecurrent X Specific Non Disease gene 1.46834 Missense Substitution JARID1C c.4637G>A p.R1546Q 1 Nonrecurrent X Specific XLMR gene 1.43806 Missense Substitution IL2RG c.1105A>G p.T369A 1 Nonrecurrent X Specific Disease gene 1.428349 Missense Substitution CXorf20 c.462T>G p.F154L 23 Recurrent X Specific Non Disease gene 1.374193 Missense Substitution BEX2 c.207A>G p.I69M 1 Nonrecurrent X Specific Non Disease gene 1.372

1455 Missense Substitution SAGE1 c.2630T>C p.V877A 1 Nonrecurrent X Specific Non Disease gene 1.37907 Missense Substitution MAGEA4 c.517G>A p.A173T 99 Recurrent X Specific Non Disease gene 1.3521677 Missense Substitution TMEM187 c.232A>G p.M78V 33 Recurrent X Specific Non Disease gene 1.344930 Missense Substitution MAGEB2 c.181G>A p.E61K 185 Recurrent X Specific Non Disease gene 1.334

1625 Missense Substitution TAF7L c.181G>A p.E61K 2 Recurrent X Specific Non Disease gene 1.3341727 Missense Substitution USP26 c.1423C>T p.H475Y 2 Recurrent X Specific Disease gene 1.31847 Missense Substitution APLN c.223A>G p.M75V 1 Nonrecurrent X Specific Non Disease gene 1.29

171 Missense Substitution ATXN3L c.995G>A p.G332D 60 Recurrent X Specific Non Disease gene 1.28213 Missense Substitution BMP15 c.308A>G p.N103S 16 Recurrent X Specific Disease gene 1.272445 Missense Substitution DNASE1L1 c.278G>A p.S93N 1 Nonrecurrent X Specific Non Disease gene 1.2541305 Missense Substitution PPP2R3B c.457G>A p.A153T 12 Recurrent PAR Non Disease gene 1.231360 Missense Substitution RGAG1 c.457G>A p.A153T 2 Recurrent X Specific Non Disease gene 1.231387 Missense Substitution RP11-35F15 c.698C>T p.P233L 17 Recurrent X Specific Non Disease gene 1.2214 Missense Substitution BMP15 c.202C>T p.R68W 1 Nonrecurrent X Specific Disease gene 1.198368 Missense Substitution CXorf30 c.398A>G p.H133R 13 Recurrent X Specific Non Disease gene 1.198627 Missense Substitution GPKOW c.385G>A p.A129T 1 Nonrecurrent X Specific Non Disease gene 1.196232 Missense Substitution CACNA1F c.1903G>A p.V635I 1 Nonrecurrent X Specific Disease gene 1.195

1728 Missense Substitution USP26 c.1044T>A p.F348L 1 Nonrecurrent X Specific Disease gene 1.184264 Missense Substitution CDKL5 c.2840C>T p.P947L 1 Nonrecurrent X Specific XLMR gene 1.176817 Missense Substitution IRS4 c.3620C>T p.A1207V 1 Nonrecurrent X Specific Non Disease gene 1.175

1620 Missense Substitution TAF1 c.2402C>T p.T801M 1 Nonrecurrent X Specific Disease gene 1.1221391 Missense Substitution MAGEB10 c.590G>A p.G197D 1 Nonrecurrent X Specific Non Disease gene 1.112978 Missense Substitution MAGEE1 c.913A>T p.S305C 1 Nonrecurrent X Specific Non Disease gene 1.11215 Missense Substitution BMP15 c.520C>T p.P174S 1 Nonrecurrent X Specific Disease gene 1.0981410 Missense Substitution RP13-347D8 c.4319A>G p.E1440G 15 Recurrent X Specific Non Disease gene 1.071729 Missense Substitution USP26 c.494T>C p.L165S 2 Recurrent X Specific Disease gene 1.048420 Missense Substitution DDX53 c.1172G>T p.R391M 25 Recurrent X Specific Non Disease gene 1.044

1571 Missense Substitution SOX3 c.310G>A p.G104R 2 Recurrent X Specific XLMR gene 1.0321456 Missense Substitution SAGE1 c.2414T>C p.L805S 56 Recurrent X Specific Non Disease gene 1.026430 Missense Substitution DIAPH2 c.247G>A p.A83T 1 Nonrecurrent X Specific Disease gene 1.025812 Missense Substitution IRAK1 c.1874C>T p.T625M 4 Recurrent X Specific Non Disease gene 1.01770 Missense Substitution ARMCX5 c.26G>A p.R9K 1 Nonrecurrent X Specific Non Disease gene 1

119 Missense Substitution ASB9 c.707T>C p.V236A 1 Nonrecurrent X Specific Non Disease gene 1217 Missense Substitution BMP2KL c.401G>A p.S134N 1 Nonrecurrent X Specific Non Disease gene 1267 Missense Substitution CDR1 c.620T>C p.I207T 1 Nonrecurrent X Specific Non Disease gene 1315 Missense Substitution CPXCR1 c.755G>C p.G252A 5 Recurrent X Specific Non Disease gene 1316 Missense Substitution CPXCR1 c.392G>A p.R131H 82 Recurrent X Specific Non Disease gene 1317 Missense Substitution CPXCR1 c.532A>T p.I178L 1 Nonrecurrent X Specific Non Disease gene 1364 Missense Substitution CXorf27 c.292G>A p.A98T 1 Nonrecurrent X Specific Non Disease gene 1474 Missense Substitution EIF2S3 c.451G>C p.V151L 1 Nonrecurrent X Specific Non Disease gene 1475 Missense Substitution EIF2S3 c.374A>G p.K125R 8 Recurrent X Specific Non Disease gene 1510 Missense Substitution FAM122C c.202C>T p.P68S 2 Recurrent X Specific Non Disease gene 1518 Missense Substitution FAM47A c.632T>C p.L211P 2 Recurrent X Specific Non Disease gene 1520 Missense Substitution FAM47B c.1256G>C p.R419P 2 Recurrent X Specific Non Disease gene 1521 Missense Substitution FAM47B c.1649C>T p.P550L 1 Nonrecurrent X Specific Non Disease gene 1522 Missense Substitution FAM47B c.544T>C p.Y182H 2 Recurrent X Specific Non Disease gene 1523 Missense Substitution FAM47B c.1861G>A p.V621I 1 Nonrecurrent X Specific Non Disease gene 1524 Missense Substitution FAM47B c.358G>C p.E120Q 20 Recurrent X Specific Non Disease gene 1526 Missense Substitution FAM47C c.524C>A p.P175H 1 Nonrecurrent X Specific Non Disease gene 1527 Missense Substitution FAM47C c.2942C>T p.A981V 2 Recurrent X Specific Non Disease gene 1617 Missense Substitution GLUD2 c.1492T>G p.S498A 6 Recurrent X Specific Non Disease gene 1680 Missense Substitution GPRASP1 c.3277C>T p.P1093S 2 Recurrent X Specific Non Disease gene 1821 Missense Substitution ITIH5L c.3122G>C p.W1041S 22 Recurrent X Specific Non Disease gene 1822 Missense Substitution ITIH5L c.2104T>A p.Y702N 1 Nonrecurrent X Specific Non Disease gene 1823 Missense Substitution ITIH5L c.1159G>C p.G387R 1 Nonrecurrent X Specific Non Disease gene 1824 Missense Substitution ITIH5L c.1288G>C p.G430R 1 Nonrecurrent X Specific Non Disease gene 1825 Missense Substitution ITIH5L c.3163A>G p.S1055G 1 Nonrecurrent X Specific Non Disease gene 1826 Missense Substitution ITIH5L c.1739G>A p.R580H 1 Nonrecurrent X Specific Non Disease gene 1902 Missense Substitution MAGEA3 c.923T>C p.V308A 38 Recurrent X Specific Non Disease gene 1903 Missense Substitution MAGEA3 c.835G>A p.V279I 35 Recurrent X Specific Non Disease gene 1955 Missense Substitution MAGEC1 c.2522G>T p.S841I 4 Recurrent X Specific Non Disease gene 1Nature Genetics: doi:10.1038/ng.367




Score956 Missense Substitution MAGEC1 c.2749C>T p.R917W 5 Recurrent X Specific Non Disease gene 1957 Missense Substitution MAGEC1 c.1697A>G p.Q566R 6 Recurrent X Specific Non Disease gene 1966 Missense Substitution MAGEC3 c.419A>T p.D140V 1 Nonrecurrent X Specific Non Disease gene 1967 Missense Substitution MAGEC3 c.1699G>T p.V567F 2 Recurrent X Specific Non Disease gene 1

1188 Missense Substitution PASD1 c.1878A>C p.Q626H 1 Nonrecurrent X Specific Non Disease gene 11189 Missense Substitution PASD1 c.1525G>A p.V509M 7 Recurrent X Specific Non Disease gene 11211 Missense Substitution PGAM4 c.37G>A p.E13K 1 Nonrecurrent X Specific Non Disease gene 11212 Missense Substitution PGAM4 c.257G>A p.R86H 10 Recurrent X Specific Non Disease gene 11397 Missense Substitution RP1-177G6 c.268C>G p.P90A 2 Recurrent X Specific Non Disease gene 11650 Missense Substitution TEX13B c.589G>A p.G197R 2 Recurrent X Specific Non Disease gene 11651 Missense Substitution TEX13B c.272A>T p.Q91L 1 Nonrecurrent X Specific Non Disease gene 11750 Missense Substitution WDR40B c.56A>G p.D19G 4 Recurrent X Specific Non Disease gene 1369 Missense Substitution CXorf30 c.2738T>A p.F913Y 13 Recurrent X Specific Non Disease gene 0.988

1826 Missense Substitution ZNF185 c.1315C>G p.R439G 1 Nonrecurrent X Specific Non Disease gene 0.9768 Missense Substitution ACE2 c.631G>A p.G211R 1 Nonrecurrent X Specific Non Disease gene 0.97

979 Missense Substitution MAGEE1 c.1017G>C p.E339D 1 Nonrecurrent X Specific Non Disease gene 0.93499 Missense Substitution FAAH2 c.124C>T p.R42W 6 Recurrent X Specific Non Disease gene 0.928813 Missense Substitution IRAK1 c.1595C>T p.S532L 163 Recurrent X Specific Non Disease gene 0.9181649 Missense Substitution TEX13A c.1046G>T p.G349V 1 Nonrecurrent X Specific Non Disease gene 0.866415 Missense Substitution DACH2 c.1136C>T p.P379L 1 Nonrecurrent X Specific Non Disease gene 0.849416 Missense Substitution DACH2 c.1268T>C p.M423T 1 Nonrecurrent X Specific Non Disease gene 0.84989 Missense Substitution ARSE c.548G>A p.R183H 1 Nonrecurrent X Specific Disease gene 0.837

1063 Missense Substitution MTMR8 c.1693C>T p.P565S 1 Nonrecurrent X Specific Non Disease gene 0.8071678 Missense Substitution TMEM187 c.209C>T p.S70L 21 Recurrent X Specific Non Disease gene 0.7661005 Missense Substitution MAP7D3 c.1728G>A p.M576I 1 Nonrecurrent X Specific Non Disease gene 0.751006 Missense Substitution MAP7D3 c.2774A>G p.Q925R 96 Recurrent X Specific Non Disease gene 0.721534 Missense Substitution SLC6A8 c.1789C>A p.P597T 5 Recurrent X Specific XLMR gene 0.6681471 Missense Substitution SATL1 c.667C>A p.P223T 1 Nonrecurrent X Specific Non Disease gene 0.664897 Missense Substitution MAGEA1 c.94A>G p.T32A 41 Recurrent X Specific Non Disease gene 0.564487 Missense Substitution ESX1 c.389C>T p.A130V 2 Recurrent X Specific Non Disease gene 0.50271 Missense Substitution ARMCX5 c.466A>G p.T156A 1 Nonrecurrent X Specific Non Disease gene 0.467

1424 Missense Substitution RP3-527F8 c.79T>C p.F27L 26 Recurrent X Specific Non Disease gene 0.467670 Missense Substitution GPR50 c.1262T>C p.V421A 1 Nonrecurrent X Specific Non Disease gene 0.462480 Missense Substitution ELK1 c.970A>T p.S324C 1 Nonrecurrent X Specific Non Disease gene 0.458481 Missense Substitution ELK1 c.548G>A p.S183N 2 Recurrent X Specific Non Disease gene 0.458172 Missense Substitution ATXN3L c.765G>C p.M255I 1 Nonrecurrent X Specific Non Disease gene 0.45698 Missense Substitution ARSF c.175G>C p.D59H 74 Recurrent X Specific Non Disease gene 0.44496 Missense Substitution ARSF c.178C>T p.R60C 73 Recurrent X Specific Non Disease gene 0.44497 Missense Substitution ARSF c.244C>T p.R82W 77 Recurrent X Specific Non Disease gene 0.44499 Missense Substitution ARSF c.251C>T p.A84V 77 Recurrent X Specific Non Disease gene 0.444100 Missense Substitution ARSF c.223G>A p.A75T 74 Recurrent X Specific Non Disease gene 0.444101 Missense Substitution ARSF c.229C>A p.L77I 76 Recurrent X Specific Non Disease gene 0.444492 Missense Substitution F8 c.5059A>G p.I1687V 1 Nonrecurrent X Specific Disease gene 0.43849 Missense Substitution APOOL c.40G>T p.A14S 1 Nonrecurrent X Specific Non Disease gene 0.426

1459 Missense Substitution SAGE1 c.2654C>T p.A885V 1 Nonrecurrent X Specific Non Disease gene 0.4241457 Missense Substitution SAGE1 c.200C>T p.S67L 3 Recurrent X Specific Non Disease gene 0.4241458 Missense Substitution SAGE1 c.1159C>T p.H387Y 16 Recurrent X Specific Non Disease gene 0.424519 Missense Substitution FAM47A c.1129G>T p.A377S 21 Recurrent X Specific Non Disease gene 0.4528 Missense Substitution FAM47C c.2771A>C p.N924T 2 Recurrent X Specific Non Disease gene 0.4556 Missense Substitution FMR1NB c.425C>T p.A142V 71 Recurrent X Specific Non Disease gene 0.4968 Missense Substitution MAGEC3 c.463T>C p.S155P 13 Recurrent X Specific Non Disease gene 0.4370 Missense Substitution CXorf30 c.2336T>C p.M779T 2 Recurrent X Specific Non Disease gene 0.3981392 Missense Substitution MAGEB10 c.194G>A p.R65Q 72 Recurrent X Specific Non Disease gene 0.3841597 Missense Substitution SYBL1 c.586G>A p.V196I 1 Nonrecurrent PAR Non Disease gene 0.3661249 Missense Substitution PLCXD1 c.914G>T p.G305V 30 Recurrent PAR Non Disease gene 0.354268 Missense Substitution CDR1 c.571T>C p.W191R 1 Nonrecurrent X Specific Non Disease gene 0.333827 Missense Substitution ITIH5L c.2261C>T p.T754M 3 Recurrent X Specific Non Disease gene 0.333318 Missense Substitution CPXCR1 c.773C>T p.T258I 1 Nonrecurrent X Specific Non Disease gene 0.267387 Missense Substitution CXorf58 c.62A>G p.Q21R 3 Recurrent X Specific Non Disease gene 0.267493 Missense Substitution F8 c.3780C>G p.D1260E 34 Recurrent X Specific Disease gene 0.264260 Missense Substitution CD99L2 c.758C>T p.P253L 1 Nonrecurrent X Specific Non Disease gene 0.2481730 Missense Substitution USP26 c.1090C>T p.L364F 17 Recurrent X Specific Disease gene 0.2181752 Missense Substitution WDR40C c.441C>A p.H147Q 46 Recurrent X Specific Non Disease gene 0.2161535 Missense Substitution SLC6A8 c.575A>G p.N192S 13 Recurrent X Specific XLMR gene 0.1741282 Missense Substitution PNMA5 c.889G>A p.A297T 4 Recurrent X Specific Non Disease gene 0.171472 Missense Substitution SATL1 c.835T>C p.W279R 122 Recurrent X Specific Non Disease gene 0.132466 Missense Substitution EFHC2 c.1289C>A p.S430Y 15 Recurrent X Specific Non Disease gene 0.1061536 Missense Substitution SLC6A8 c.620G>A p.R207Q 25 Recurrent X Specific XLMR gene 0.086676 Missense Substitution GPR64 c.191A>G p.N64S 1 Nonrecurrent X Specific Non Disease gene 0703 Missense Substitution GTPBP6 c.584G>A p.R195Q 3 Recurrent PAR Non Disease gene 01832 Missense Substitution ZNF41 c.945T>G p.D315E 4 Recurrent X Specific XLMR gene 01821 Missense Substitution ZFX c.409G>A p.D137N 1 Nonrecurrent X Specific Non Disease gene 01660 Missense Substitution TIMP1 c.575G>A p.R192Q 1 Nonrecurrent X Specific Non Disease gene 01338 Missense Substitution RAB40AL c.82A>G p.S28G 1 Nonrecurrent X Specific Non Disease gene 01805 Missense Substitution ZC3H12B c.1564C>T p.R522C 1 Nonrecurrent X Specific Non Disease gene 01579 Missense Substitution SRPX c.673C>T p.P225S 2 Recurrent X Specific Non Disease gene 019 Missense Substitution AFF2 c.2656C>G p.P886A 1 Nonrecurrent X Specific XLMR gene 055 Missense Substitution ARHGAP4 c.2470A>C p.S824R 2 Recurrent X Specific Non Disease gene 068 Missense Substitution ARMCX4 c.526A>G p.R176G 128 Recurrent X Specific Non Disease gene 076 Missense Substitution ARSD c.470C>T p.S157F 14 Recurrent X Specific Non Disease gene 077 Missense Substitution ARSD c.497T>A p.L166Q 16 Recurrent X Specific Non Disease gene 078 Missense Substitution ARSD c.671C>G p.S224C 94 Recurrent X Specific Non Disease gene 079 Missense Substitution ARSD c.527T>A p.M176K 16 Recurrent X Specific Non Disease gene 080 Missense Substitution ARSD c.524G>A p.G175D 45 Recurrent X Specific Non Disease gene 081 Missense Substitution ARSD c.1691T>C p.M564T 7 Recurrent X Specific Non Disease gene 082 Missense Substitution ARSD c.661G>A p.G221S 14 Recurrent X Specific Non Disease gene 083 Missense Substitution ARSD c.667T>C p.F223L 2 Recurrent X Specific Non Disease gene 0Nature Genetics: doi:10.1038/ng.367




Score84 Missense Substitution ARSD c.667T>A p.F223I 13 Recurrent X Specific Non Disease gene 0

109 Missense Substitution ARSH c.1552C>T p.R518C 1 Nonrecurrent X Specific Non Disease gene 0110 Missense Substitution ARSH c.430C>A p.P144T 3 Recurrent X Specific Non Disease gene 0111 Missense Substitution ARSH c.563G>A p.R188H 6 Recurrent X Specific Non Disease gene 0121 Missense Substitution ASMT c.51C>A p.N17K 1 Nonrecurrent PAR Non Disease gene 0125 Missense Substitution ASMTL c.585C>G p.N195K 1 Nonrecurrent PAR Non Disease gene 0126 Missense Substitution ASMTL c.682T>C p.S228P 48 Recurrent PAR Non Disease gene 0127 Missense Substitution ASMTL c.1090T>C p.Y364H 49 Recurrent PAR Non Disease gene 0128 Missense Substitution ASMTL c.1300G>A p.G434S 36 Recurrent PAR Non Disease gene 0129 Missense Substitution ASMTL c.1622G>A p.R541K 3 Recurrent PAR Non Disease gene 0157 Missense Substitution ATP7A c.1009G>A p.A337T 1 Nonrecurrent X Specific XLMR gene 0158 Missense Substitution ATP7A c.2299G>C p.V767L 30 Recurrent X Specific XLMR gene 0161 Missense Substitution ATRX c.6149A>C p.H2050P 1 Nonrecurrent X Specific XLMR gene 0162 Missense Substitution ATRX c.4525C>T p.P1509S 1 Nonrecurrent X Specific XLMR gene 0163 Missense Substitution ATRX c.4253C>T p.A1418V 1 Nonrecurrent X Specific XLMR gene 0164 Missense Substitution ATRX c.826A>G p.T276A 1 Nonrecurrent X Specific XLMR gene 0165 Missense Substitution ATRX c.4967A>G p.N1656S 2 Recurrent X Specific XLMR gene 0166 Missense Substitution ATRX c.5642G>A p.R1881H 1 Nonrecurrent X Specific XLMR gene 0167 Missense Substitution ATRX c.2173C>G p.Q725E 39 Recurrent X Specific XLMR gene 0168 Missense Substitution ATRX c.1983C>G p.H661Q 2 Recurrent X Specific XLMR gene 0195 Missense Substitution BEX4 c.22G>A p.E8K 1 Nonrecurrent X Specific Non Disease gene 0196 Missense Substitution BEX4 c.15C>G p.I5M 7 Recurrent X Specific Non Disease gene 0209 Missense Substitution BIRC4 c.1403T>C p.L468P 28 Recurrent X Specific Disease gene 0249 Missense Substitution CCDC22 c.715G>A p.E239K 1 Nonrecurrent X Specific Non Disease gene 0251 Missense Substitution CCNB3 c.2221A>G p.T741A 1 Nonrecurrent X Specific Non Disease gene 0252 Missense Substitution CCNB3 c.3809G>A p.R1270K 2 Recurrent X Specific Non Disease gene 0256 Missense Substitution CD99 c.518A>T p.N173I 4 Recurrent PAR Non Disease gene 0257 Missense Substitution CD99 c.493G>A p.D165N 4 Recurrent PAR Non Disease gene 0258 Missense Substitution CD99 c.496A>G p.M166V 4 Recurrent PAR Non Disease gene 0282 Missense Substitution CITED1 c.288C>G p.H96Q 46 Recurrent X Specific Non Disease gene 0297 Missense Substitution CNGA2 c.1081G>A p.V361I 2 Recurrent X Specific Non Disease gene 0312 Missense Substitution COL4A6 c.1360T>C p.S454P 23 Recurrent X Specific Disease gene 0322 Missense Substitution CSAG1 c.83A>T p.Y28F 3 Recurrent X Specific Non Disease gene 0323 Missense Substitution CSAG1 c.83A>G p.Y28C 2 Recurrent X Specific Non Disease gene 0325 Missense Substitution CSF2RA c.50C>G p.A17G 7 Recurrent PAR Non Disease gene 0326 Missense Substitution CSF2RA c.223A>G p.S75G 1 Nonrecurrent PAR Non Disease gene 0327 Missense Substitution CSF2RA c.1045T>C p.F349L 1 Nonrecurrent PAR Non Disease gene 0331 Missense Substitution CTAG2 c.522G>T p.K174N 1 Nonrecurrent X Specific Non Disease gene 0343 Missense Substitution CXorf1 c.106T>G p.S36A 2 Recurrent X Specific Non Disease gene 0346 Missense Substitution CXorf15 c.305C>T p.T102M 1 Nonrecurrent X Specific Non Disease gene 0361 Missense Substitution CXorf24 c.251C>T p.T84I 53 Recurrent X Specific Non Disease gene 0362 Missense Substitution CXorf25 c.167G>A p.G56E 1 Nonrecurrent X Specific Non Disease gene 0363 Missense Substitution CXorf25 c.284C>T p.P95L 5 Recurrent X Specific Non Disease gene 0366 Missense Substitution CXorf28 c.17C>T p.A6V 1 Nonrecurrent X Specific Non Disease gene 0371 Missense Substitution CXorf30 c.515C>T p.T172M 1 Nonrecurrent X Specific Non Disease gene 0372 Missense Substitution CXorf30 c.233G>A p.R78H 3 Recurrent X Specific Non Disease gene 0388 Missense Substitution CXorf58 c.70C>T p.R24C 50 Recurrent X Specific Non Disease gene 0397 Missense Substitution CXYorf2 c.385C>G p.R129G 33 Recurrent PAR Non Disease gene 0398 Missense Substitution CXYorf2 c.320A>T p.H107L 1 Nonrecurrent PAR Non Disease gene 0399 Missense Substitution CXYorf2 c.307T>C p.C103R 13 Recurrent PAR Non Disease gene 0402 Missense Substitution CXYorf3 c.386C>T p.S129F 1 Nonrecurrent PAR Non Disease gene 0403 Missense Substitution CXYorf3 c.569C>T p.P190L 3 Recurrent PAR Non Disease gene 0404 Missense Substitution CXYorf3 c.256A>G p.K86E 1 Nonrecurrent PAR Non Disease gene 0405 Missense Substitution CXYorf3 c.310A>G p.S104G 1 Nonrecurrent PAR Non Disease gene 0406 Missense Substitution CXYorf3 c.2023C>T p.R675C 5 Recurrent PAR Non Disease gene 0407 Missense Substitution CXYorf3 c.1498C>G p.P500A 34 Recurrent PAR Non Disease gene 0417 Missense Substitution DDX3X c.1939G>A p.G647R 1 Nonrecurrent X Specific Non Disease gene 0421 Missense Substitution DDX53 c.319G>T p.A107S 1 Nonrecurrent X Specific Non Disease gene 0423 Missense Substitution DGAT2L3 c.238C>G p.H80D 3 Recurrent X Specific Non Disease gene 0424 Missense Substitution DGAT2L3 c.241C>G p.P81A 1 Nonrecurrent X Specific Non Disease gene 0427 Missense Substitution DGAT2L4 c.82A>C p.I28L 1 Nonrecurrent X Specific Non Disease gene 0428 Missense Substitution DGAT2L4 c.286A>G p.I96V 1 Nonrecurrent X Specific Non Disease gene 0456 Missense Substitution DUSP21 c.557T>C p.M186T 11 Recurrent X Specific Non Disease gene 0457 Missense Substitution DUSP21 c.550C>G p.L184V 1 Nonrecurrent X Specific Non Disease gene 0458 Missense Substitution DUSP21 c.562A>G p.I188V 4 Recurrent X Specific Non Disease gene 0469 Missense Substitution EGFL6 c.1127A>G p.E376G 1 Nonrecurrent X Specific Non Disease gene 0470 Missense Substitution EGFL6 c.1603G>A p.D535N 2 Recurrent X Specific Non Disease gene 0471 Missense Substitution EGFL6 c.223G>A p.V75M 1 Nonrecurrent X Specific Non Disease gene 0516 Missense Substitution FAM45B c.88T>C p.W30R 7 Recurrent X Specific Non Disease gene 0533 Missense Substitution FAM9A c.427G>A p.A143T 1 Nonrecurrent X Specific Non Disease gene 0534 Missense Substitution FAM9A c.238G>A p.D80N 4 Recurrent X Specific Non Disease gene 0535 Missense Substitution FAM9C c.337C>T p.R113C 1 Nonrecurrent X Specific Non Disease gene 0536 Missense Substitution FANCB c.1004G>A p.G335E 8 Recurrent X Specific XLMR gene 0537 Missense Substitution FANCB c.2435A>G p.Y812C 1 Nonrecurrent X Specific XLMR gene 0540 Missense Substitution FATE1 c.29C>T p.A10V 17 Recurrent X Specific Non Disease gene 0542 Missense Substitution FGD1 c.935C>T p.P312L 1 Nonrecurrent X Specific XLMR gene 0561 Missense Substitution FOXR2 c.199C>G p.P67A 1 Nonrecurrent X Specific Non Disease gene 0562 Missense Substitution FOXR2 c.857T>C p.V286A 115 Recurrent X Specific Non Disease gene 0574 Missense Substitution FRMPD3 c.74G>A p.G25E 1 Nonrecurrent X Specific Non Disease gene 0594 Missense Substitution GABRE c.304T>G p.S102A 96 Recurrent X Specific Non Disease gene 0598 Missense Substitution GABRQ c.805C>T p.L269F 1 Nonrecurrent X Specific Non Disease gene 0599 Missense Substitution GABRQ c.1432T>A p.F478I 63 Recurrent X Specific Non Disease gene 0609 Missense Substitution GLOD5 c.55G>A p.G19R 1 Nonrecurrent X Specific Non Disease gene 0610 Missense Substitution GLOD5 c.76G>A p.A26T 35 Recurrent X Specific Non Disease gene 0611 Missense Substitution GLRA2 c.1261A>G p.I421V 2 Recurrent X Specific Non Disease gene 0636 Missense Substitution GPR112 c.4639T>A p.C1547S 2 Recurrent X Specific Non Disease gene 0637 Missense Substitution GPR112 c.9045C>A p.S3015R 1 Nonrecurrent X Specific Non Disease gene 0Nature Genetics: doi:10.1038/ng.367




Score638 Missense Substitution GPR112 c.1103C>A p.P368H 86 Recurrent X Specific Non Disease gene 0639 Missense Substitution GPR112 c.325T>C p.S109P 1 Nonrecurrent X Specific Non Disease gene 0640 Missense Substitution GPR112 c.4618T>C p.S1540P 97 Recurrent X Specific Non Disease gene 0641 Missense Substitution GPR112 c.3697T>C p.S1233P 3 Recurrent X Specific Non Disease gene 0642 Missense Substitution GPR112 c.3638C>A p.T1213N 84 Recurrent X Specific Non Disease gene 0643 Missense Substitution GPR112 c.7211C>G p.T2404S 1 Nonrecurrent X Specific Non Disease gene 0644 Missense Substitution GPR112 c.3610A>T p.T1204S 2 Recurrent X Specific Non Disease gene 0645 Missense Substitution GPR112 c.5182A>C p.T1728P 9 Recurrent X Specific Non Disease gene 0646 Missense Substitution GPR112 c.1963A>G p.I655V 1 Nonrecurrent X Specific Non Disease gene 0647 Missense Substitution GPR112 c.5371T>C p.F1791L 97 Recurrent X Specific Non Disease gene 0648 Missense Substitution GPR112 c.828A>G p.I276M 58 Recurrent X Specific Non Disease gene 0649 Missense Substitution GPR112 c.2209G>T p.A737S 1 Nonrecurrent X Specific Non Disease gene 0671 Missense Substitution GPR50 c.1594A>G p.T532A 78 Recurrent X Specific Non Disease gene 0672 Missense Substitution GPR50 c.1816A>G p.I606V 97 Recurrent X Specific Non Disease gene 0681 Missense Substitution GPRASP1 c.944C>G p.A315G 12 Recurrent X Specific Non Disease gene 0684 Missense Substitution GPRASP2 c.326G>A p.R109H 2 Recurrent X Specific Non Disease gene 0692 Missense Substitution GRPR c.691T>C p.Y231H 1 Nonrecurrent X Specific Non Disease gene 0699 Missense Substitution GSPT2 c.1186G>A p.A396T 1 Nonrecurrent X Specific Non Disease gene 0701 Missense Substitution GTPBP6 c.167C>T p.P56L 12 Recurrent PAR Non Disease gene 0702 Missense Substitution GTPBP6 c.110A>G p.E37G 2 Recurrent PAR Non Disease gene 0704 Missense Substitution GTPBP6 c.373C>G p.L125V 1 Nonrecurrent PAR Non Disease gene 0705 Missense Substitution GTPBP6 c.317G>A p.R106H 1 Nonrecurrent PAR Non Disease gene 0706 Missense Substitution GTPBP6 c.583C>G p.R195G 1 Nonrecurrent PAR Non Disease gene 0716 Missense Substitution GUCY2F c.887G>A p.R296Q 8 Recurrent X Specific Non Disease gene 0718 Missense Substitution GYG2 c.1117C>T p.R373C 3 Recurrent X Specific Non Disease gene 0719 Missense Substitution GYG2 c.938A>G p.H313R 139 Recurrent X Specific Non Disease gene 0720 Missense Substitution GYG2 c.809C>T p.A270V 145 Recurrent X Specific Non Disease gene 0721 Missense Substitution GYG2 c.19C>T p.H7Y 25 Recurrent X Specific Non Disease gene 0723 Missense Substitution H2BFWT c.259C>T p.R87W 6 Recurrent X Specific Non Disease gene 0725 Missense Substitution HCCS c.215C>T p.A72V 6 Recurrent X Specific XLMR gene 0744 Missense Substitution HDHD1A c.221C>T p.T74M 41 Recurrent X Specific Non Disease gene 0745 Missense Substitution HDHD1A c.227C>T p.A76V 1 Nonrecurrent X Specific Non Disease gene 0773 Missense Substitution HUWE1 c.6758T>G p.L2253R 1 Nonrecurrent X Specific XLMR gene 0796 Missense Substitution IKBKG c.337G>A p.D113N 2 Recurrent X Specific XLMR gene 0800 Missense Substitution IL1RAPL1 c.91T>C p.C31R 1 Nonrecurrent X Specific XLMR gene 0808 Missense Substitution INE1 c.34C>T p.P12S 1 Nonrecurrent X Specific Non Disease gene 0818 Missense Substitution IRS4 c.1232GA>AT p.R411H 1 Nonrecurrent X Specific Non Disease gene 0831 Missense Substitution ITM2A c.215C>T p.A72V 5 Recurrent X Specific Non Disease gene 0837 Missense Substitution KAL1 c.1759G>T p.V587L 1 Nonrecurrent X Specific Disease gene 0838 Missense Substitution KAL1 c.1532C>A p.S511Y 1 Nonrecurrent X Specific Disease gene 0839 Missense Substitution KAL1 c.1600G>A p.V534I 92 Recurrent X Specific Disease gene 0904 Missense Substitution MAGEA3 c.927G>T p.L309F 2 Recurrent X Specific Non Disease gene 0910 Missense Substitution MAGEA5 c.170G>A p.G57E 1 Nonrecurrent X Specific Non Disease gene 0911 Missense Substitution MAGEA5 c.185T>C p.L62P 1 Nonrecurrent X Specific Non Disease gene 0912 Missense Substitution MAGEA5 c.175C>G p.P59A 1 Nonrecurrent X Specific Non Disease gene 0913 Missense Substitution MAGEA5 c.187A>C p.K63Q 3 Recurrent X Specific Non Disease gene 0914 Missense Substitution MAGEA5 c.46C>G p.L16V 2 Recurrent X Specific Non Disease gene 0915 Missense Substitution MAGEA5 c.83T>C p.V28A 1 Nonrecurrent X Specific Non Disease gene 0923 Missense Substitution MAGEB1 c.799C>T p.R267C 1 Nonrecurrent X Specific Non Disease gene 0924 Missense Substitution MAGEB1 c.589A>G p.R197G 3 Recurrent X Specific Non Disease gene 0925 Missense Substitution MAGEB18 c.194A>G p.Q65R 1 Nonrecurrent X Specific Non Disease gene 0926 Missense Substitution MAGEB18 c.118C>T p.P40S 21 Recurrent X Specific Non Disease gene 0929 Missense Substitution MAGEB2 c.118T>A p.C40S 1 Nonrecurrent X Specific Non Disease gene 0931 Missense Substitution MAGEB2 c.698A>T p.Y233F 1 Nonrecurrent X Specific Non Disease gene 0935 Missense Substitution MAGEB3 c.320G>A p.R107H 58 Recurrent X Specific Non Disease gene 0936 Missense Substitution MAGEB3 c.335T>C p.I112T 138 Recurrent X Specific Non Disease gene 0938 Missense Substitution MAGEB4 c.653A>C p.E218A 1 Nonrecurrent X Specific Non Disease gene 0939 Missense Substitution MAGEB4 c.83G>A p.G28D 1 Nonrecurrent X Specific Non Disease gene 0943 Missense Substitution MAGEB5 c.319T>C p.Y107H 1 Nonrecurrent X Specific Non Disease gene 0944 Missense Substitution MAGEB6 c.514G>C p.G172R 3 Recurrent X Specific Non Disease gene 0945 Missense Substitution MAGEB6 c.1187T>C p.I396T 1 Nonrecurrent X Specific Non Disease gene 0946 Missense Substitution MAGEB6 c.1162C>T p.P388S 3 Recurrent X Specific Non Disease gene 0948 Missense Substitution MAGEB6 c.293G>A p.R98H 5 Recurrent X Specific Non Disease gene 0958 Missense Substitution MAGEC1 c.3086G>A p.R1029H 1 Nonrecurrent X Specific Non Disease gene 0959 Missense Substitution MAGEC1 c.74G>A p.C25Y 29 Recurrent X Specific Non Disease gene 0964 Missense Substitution MAGEC2 c.824C>G p.T275S 2 Recurrent X Specific Non Disease gene 0969 Missense Substitution MAGEC3 c.493T>A p.L165M 11 Recurrent X Specific Non Disease gene 0991 Missense Substitution MAOB c.326C>T p.P109L 1 Nonrecurrent X Specific Non Disease gene 0993 Missense Substitution MAP3K15 c.1559T>C p.V520A 1 Nonrecurrent X Specific Non Disease gene 0994 Missense Substitution MAP3K15 c.2331G>C p.R777S 1 Nonrecurrent X Specific Non Disease gene 0995 Missense Substitution MAP3K15 c.2176C>G p.Q726E 2 Recurrent X Specific Non Disease gene 01007 Missense Substitution MAP7D3 c.449C>G p.S150C 1 Nonrecurrent X Specific Non Disease gene 01008 Missense Substitution MAP7D3 c.2396A>C p.E799A 83 Recurrent X Specific Non Disease gene 01027 Missense Substitution CT45A5 c.374A>T p.D125V 1 Nonrecurrent X Specific Non Disease gene 01028 Missense Substitution CT45A5 c.290A>T p.N97I 3 Recurrent X Specific Non Disease gene 01029 Missense Substitution CT45A5 c.247G>A p.G83R 6 Recurrent X Specific Non Disease gene 01030 Missense Substitution CT45A5 c.311G>A p.G104E 1 Nonrecurrent X Specific Non Disease gene 01031 Missense Substitution CT45A5 c.254T>G p.M85R 5 Recurrent X Specific Non Disease gene 01032 Missense Substitution CT45A5 c.184C>G p.H62D 16 Recurrent X Specific Non Disease gene 01033 Missense Substitution CT45A5 c.262C>T p.P88S 6 Recurrent X Specific Non Disease gene 01034 Missense Substitution CT45A5 c.188C>G p.A63G 12 Recurrent X Specific Non Disease gene 01035 Missense Substitution CT45A5 c.302A>G p.N101S 1 Nonrecurrent X Specific Non Disease gene 01036 Missense Substitution CT45A5 c.272A>G p.N91S 5 Recurrent X Specific Non Disease gene 01037 Missense Substitution CT45A5 c.416G>A p.R139Q 1 Nonrecurrent X Specific Non Disease gene 01038 Missense Substitution CT45A5 c.388G>T p.V130L 11 Recurrent X Specific Non Disease gene 01039 Missense Substitution CT45A5 c.358C>G p.Q120E 10 Recurrent X Specific Non Disease gene 01040 Missense Substitution CT45A5 c.409C>A p.L137I 9 Recurrent X Specific Non Disease gene 0Nature Genetics: doi:10.1038/ng.367




Score1055 Missense Substitution MSL3L1 c.1094G>A p.S365N 1 Nonrecurrent X Specific Non Disease gene 01067 Missense Substitution MXRA5 c.2480C>G p.P827R 1 Nonrecurrent X Specific Non Disease gene 01068 Missense Substitution MXRA5 c.5657C>T p.T1886I 1 Nonrecurrent X Specific Non Disease gene 01069 Missense Substitution MXRA5 c.5735C>G p.T1912S 1 Nonrecurrent X Specific Non Disease gene 01070 Missense Substitution MXRA5 c.4788T>A p.D1596E 1 Nonrecurrent X Specific Non Disease gene 01071 Missense Substitution MXRA5 c.8100G>C p.E2700D 19 Recurrent X Specific Non Disease gene 01072 Missense Substitution MXRA5 c.1387A>G p.I463V 2 Recurrent X Specific Non Disease gene 01073 Missense Substitution MXRA5 c.664G>A p.D222N 3 Recurrent X Specific Non Disease gene 01074 Missense Substitution MXRA5 c.5611A>G p.T1871A 1 Nonrecurrent X Specific Non Disease gene 01075 Missense Substitution MXRA5 c.3383C>T p.A1128V 114 Recurrent X Specific Non Disease gene 01076 Missense Substitution MXRA5 c.5998G>A p.G2000S 77 Recurrent X Specific Non Disease gene 01077 Missense Substitution MXRA5 c.2249C>T p.S750L 1 Nonrecurrent X Specific Non Disease gene 01078 Missense Substitution MXRA5 c.3281C>T p.T1094I 1 Nonrecurrent X Specific Non Disease gene 01094 Missense Substitution NAP1L6 c.80C>T p.P27L 1 Nonrecurrent X Specific Non Disease gene 01095 Missense Substitution NCBP2L c.509T>C p.L170P 18 Recurrent X Specific Non Disease gene 01112 Missense Substitution NLGN4X c.2388C>A p.N796K 1 Nonrecurrent X Specific XLMR gene 01113 Missense Substitution NLGN4X c.2360C>T p.T787M 26 Recurrent X Specific XLMR gene 01114 Missense Substitution NLGN4X c.2164G>A p.A722T 22 Recurrent X Specific XLMR gene 01115 Missense Substitution NLGN4X c.1777C>T p.L593F 1 Nonrecurrent X Specific XLMR gene 01116 Missense Substitution NLGN4X c.2317C>T p.L773F 22 Recurrent X Specific XLMR gene 01122 Missense Substitution NP_689795 c.359A>G p.Q120R 144 Recurrent X Specific Non Disease gene 01125 Missense Substitution NRK c.2230C>A p.Q744K 1 Nonrecurrent X Specific Non Disease gene 01126 Missense Substitution NRK c.4495G>A p.D1499N 1 Nonrecurrent X Specific Non Disease gene 01127 Missense Substitution NRK c.1072G>A p.V358M 50 Recurrent X Specific Non Disease gene 01128 Missense Substitution NRK c.3044C>T p.A1015V 1 Nonrecurrent X Specific Non Disease gene 01129 Missense Substitution NRK c.2912A>G p.D971G 1 Nonrecurrent X Specific Non Disease gene 01130 Missense Substitution NRK c.2779A>G p.S927G 1 Nonrecurrent X Specific Non Disease gene 01142 Missense Substitution NXF5 c.67A>G p.K23E 5 Recurrent X Specific XLMR gene 01158 Missense Substitution OFD1 c.535A>T p.I179F 2 Recurrent X Specific XLMR gene 01170 Missense Substitution OTC c.863T>G p.M288R 1 Nonrecurrent X Specific XLMR gene 01172 Missense Substitution P2RY10 c.7A>C p.N3H 5 Recurrent X Specific Non Disease gene 01184 Missense Substitution PAGE3 c.103A>G p.N35D 125 Recurrent X Specific Non Disease gene 01190 Missense Substitution PASD1 c.584T>C p.V195A 1 Nonrecurrent X Specific Non Disease gene 01197 Missense Substitution PCDH11X c.3053G>A p.R1018Q 4 Recurrent X Specific Non Disease gene 01206 Missense Substitution PDHA1 c.844A>C p.M282L 1 Nonrecurrent X Specific XLMR gene 01208 Missense Substitution PDK3 c.376A>G p.M126V 1 Nonrecurrent X Specific Non Disease gene 01216 Missense Substitution PGK1 c.183G>A p.M61I 1 Nonrecurrent X Specific XLMR gene 01219 Missense Substitution PHF16 c.2236T>C p.F746L 4 Recurrent X Specific Non Disease gene 01220 Missense Substitution PHF16 c.2042A>G p.D681G 1 Nonrecurrent X Specific Non Disease gene 01221 Missense Substitution PHF8 c.2720G>A p.R907H 1 Nonrecurrent X Specific XLMR gene 01225 Missense Substitution PHKA2 c.112G>C p.E38Q 2 Recurrent X Specific Disease gene 01226 Missense Substitution PHKA2 c.3388C>T p.R1130C 1 Nonrecurrent X Specific Disease gene 01227 Missense Substitution PHKA2 c.1952C>A p.T651N 1 Nonrecurrent X Specific Disease gene 01228 Missense Substitution PHKA2 c.2077A>G p.I693V 1 Nonrecurrent X Specific Disease gene 01234 Missense Substitution PIGA c.613G>A p.V205I 1 Nonrecurrent X Specific Disease gene 01236 Missense Substitution PIN4 c.47G>A p.R16Q 15 Recurrent X Specific Non Disease gene 01237 Missense Substitution PIN4 c.54C>A p.S18R 15 Recurrent X Specific Non Disease gene 01241 Missense Substitution PJA1 c.1254G>T p.E418D 43 Recurrent X Specific Non Disease gene 01242 Missense Substitution PJA1 c.1353C>G p.F451L 1 Nonrecurrent X Specific Non Disease gene 01250 Missense Substitution PLCXD1 c.944C>T p.A315V 1 Nonrecurrent PAR Non Disease gene 01251 Missense Substitution PLCXD1 c.380C>T p.T127M 1 Nonrecurrent PAR Non Disease gene 01252 Missense Substitution PLCXD1 c.928G>A p.V310I 1 Nonrecurrent PAR Non Disease gene 01280 Missense Substitution PNMA3 c.1130T>C p.V377A 166 Recurrent X Specific Non Disease gene 01284 Missense Substitution PNMA6A c.1124T>G p.L375R 1 Nonrecurrent X Specific Non Disease gene 01285 Missense Substitution PNPLA4 c.575C>T p.P192L 1 Nonrecurrent X Specific Non Disease gene 01286 Missense Substitution PNPLA4 c.484G>A p.V162M 1 Nonrecurrent X Specific Non Disease gene 01290 Missense Substitution POF1B c.1045A>T p.M349L 23 Recurrent X Specific Disease gene 01299 Missense Substitution PPEF1 c.1327G>A p.G443S 17 Recurrent X Specific Non Disease gene 01302 Missense Substitution PPP1R3F c.794A>G p.Y265C 1 Nonrecurrent X Specific Non Disease gene 01306 Missense Substitution PPP2R3B c.1667C>T p.P556L 1 Nonrecurrent PAR Non Disease gene 01307 Missense Substitution PPP2R3B c.1556C>T p.A519V 1 Nonrecurrent PAR Non Disease gene 01320 Missense Substitution PRRG1 c.595A>G p.I199V 1 Nonrecurrent X Specific Non Disease gene 01321 Missense Substitution PRRG1 c.49C>T p.R17C 1 Nonrecurrent X Specific Non Disease gene 01327 Missense Substitution PTCHD1 c.761A>G p.H254R 1 Nonrecurrent X Specific Non Disease gene 01348 Missense Substitution RBM10 c.1891G>C p.A631P 5 Recurrent X Specific Non Disease gene 01352 Missense Substitution RBMX c.1129C>T p.R377C 1 Nonrecurrent X Specific Non Disease gene 01365 Missense Substitution RGAG4 c.1477A>C p.S493R 15 Recurrent X Specific Non Disease gene 01366 Missense Substitution RGAG4 c.167T>C p.V56A 11 Recurrent X Specific Non Disease gene 01376 Missense Substitution RP11-217H1 c.932T>G p.V311G 1 Nonrecurrent X Specific Non Disease gene 01381 Missense Substitution RP11-274K13 c.68C>T p.T23M 1 Nonrecurrent X Specific Non Disease gene 01382 Missense Substitution RP11-30A20 c.975C>G p.N325K 1 Nonrecurrent X Specific Non Disease gene 01383 Missense Substitution RP11-30A20 c.1052G>T p.W351L 99 Recurrent X Specific Non Disease gene 01384 Missense Substitution RP11-30A20 c.488C>T p.S163L 96 Recurrent X Specific Non Disease gene 01411 Missense Substitution RP13-347D8 c.593C>T p.S198L 2 Recurrent X Specific Non Disease gene 01412 Missense Substitution RP13-347D8 c.794G>A p.R265H 3 Recurrent X Specific Non Disease gene 01413 Missense Substitution RP13-347D8 c.88C>A p.L30I 4 Recurrent X Specific Non Disease gene 01422 Missense Substitution RP2 c.844C>T p.R282W 6 Recurrent X Specific Disease gene 01431 Missense Substitution RPA4 c.97G>A p.A33T 45 Recurrent X Specific Non Disease gene 01435 Missense Substitution RPGR c.1697G>A p.G566E 7 Recurrent X Specific Disease gene 01436 Missense Substitution RPGR c.1598C>T p.T533M 2 Recurrent X Specific Disease gene 01437 Missense Substitution RPGR c.1367A>G p.Q456R 2 Recurrent X Specific Disease gene 01438 Missense Substitution RPGR c.1291A>G p.I431V 6 Recurrent X Specific Disease gene 01439 Missense Substitution RPGR c.1274G>A p.R425K 7 Recurrent X Specific Disease gene 01446 Missense Substitution RPS26L1 c.157A>G p.I53V 1 Nonrecurrent X Specific Non Disease gene 01448 Missense Substitution RPS6KA3 c.2168G>A p.R723H 1 Nonrecurrent X Specific XLMR gene 01449 Missense Substitution RPS6KA3 c.113T>G p.I38S 1 Nonrecurrent X Specific XLMR gene 01460 Missense Substitution SAGE1 c.604G>A p.V202I 1 Nonrecurrent X Specific Non Disease gene 0Nature Genetics: doi:10.1038/ng.367




Score1473 Missense Substitution SATL1 c.259C>G p.P87A 1 Nonrecurrent X Specific Non Disease gene 01483 Missense Substitution SH3KBP1 c.1949G>A p.R650Q 1 Nonrecurrent X Specific Non Disease gene 01486 Missense Substitution SHOX c.376C>G p.L126V 1 Nonrecurrent PAR Disease gene 01487 Missense Substitution SHOX c.62G>A p.G21D 1 Nonrecurrent PAR Disease gene 01488 Missense Substitution SHROOM2 c.1426G>C p.G476R 1 Nonrecurrent X Specific Non Disease gene 01489 Missense Substitution SHROOM2 c.2458G>A p.G820R 1 Nonrecurrent X Specific Non Disease gene 01490 Missense Substitution SHROOM2 c.1680A>T p.K560N 1 Nonrecurrent X Specific Non Disease gene 01491 Missense Substitution SHROOM2 c.3320C>T p.A1107V 1 Nonrecurrent X Specific Non Disease gene 01492 Missense Substitution SHROOM2 c.631G>A p.G211S 1 Nonrecurrent X Specific Non Disease gene 01493 Missense Substitution SHROOM2 c.4661G>A p.R1554H 1 Nonrecurrent X Specific Non Disease gene 01494 Missense Substitution SHROOM2 c.4821G>C p.L1607F 34 Recurrent X Specific Non Disease gene 01495 Missense Substitution SHROOM2 c.3032G>A p.R1011Q 1 Nonrecurrent X Specific Non Disease gene 01502 Missense Substitution SHROOM4 c.2669G>A p.C890Y 1 Nonrecurrent X Specific XLMR gene 01503 Missense Substitution SHROOM4 c.3988G>A p.E1330K 1 Nonrecurrent X Specific XLMR gene 01504 Missense Substitution SHROOM4 c.4101G>T p.L1367F 1 Nonrecurrent X Specific XLMR gene 01505 Missense Substitution SHROOM4 c.266G>A p.R89K 1 Nonrecurrent X Specific XLMR gene 01506 Missense Substitution SHROOM4 c.1879C>T p.P627S 3 Recurrent X Specific XLMR gene 01507 Missense Substitution SHROOM4 c.1135G>A p.V379M 1 Nonrecurrent X Specific XLMR gene 01513 Missense Substitution SLC10A3 c.1213A>G p.T405A 1 Nonrecurrent X Specific Non Disease gene 01514 Missense Substitution SLC10A3 c.544G>A p.A182T 1 Nonrecurrent X Specific Non Disease gene 01517 Missense Substitution SLC25A43 c.1001C>T p.P334L 109 Recurrent X Specific Non Disease gene 01528 Missense Substitution SLC6A14 c.1529C>T p.T510I 18 Recurrent X Specific Non Disease gene 01539 Missense Substitution SLC7A3 c.608T>C p.F203S 1 Nonrecurrent X Specific Non Disease gene 01540 Missense Substitution SLC7A3 c.1766G>C p.S589T 1 Nonrecurrent X Specific Non Disease gene 01541 Missense Substitution SLC7A3 c.1522C>G p.L508V 12 Recurrent X Specific Non Disease gene 01542 Missense Substitution SLC7A3 c.1571T>C p.I524T 1 Nonrecurrent X Specific Non Disease gene 01543 Missense Substitution SLC7A3 c.1798C>T p.R600C 1 Nonrecurrent X Specific Non Disease gene 01555 Missense Substitution SLC9A7 c.1092C>G p.F364L 1 Nonrecurrent X Specific Non Disease gene 01556 Missense Substitution SLC9A7 c.455A>G p.E152G 1 Nonrecurrent X Specific Non Disease gene 01569 Missense Substitution SMS c.449T>C p.I150T 1 Nonrecurrent X Specific XLMR gene 01575 Missense Substitution SPIN2A c.700A>G p.T234A 3 Recurrent X Specific Non Disease gene 01576 Missense Substitution SRPK3 c.341G>A p.G114E 1 Nonrecurrent X Specific Non Disease gene 01578 Missense Substitution SRPX c.347A>G p.K116R 1 Nonrecurrent X Specific Non Disease gene 01580 Missense Substitution SRPX c.1238C>T p.S413F 10 Recurrent X Specific Non Disease gene 01581 Missense Substitution SRPX2 c.329G>A p.R110H 1 Nonrecurrent X Specific XLMR gene 01582 Missense Substitution SSX1 c.422C>A p.P141H 1 Nonrecurrent X Specific Non Disease gene 01583 Missense Substitution SSX3 c.403G>A p.D135N 4 Recurrent X Specific Non Disease gene 01584 Missense Substitution SSX5 c.541C>T p.R181C 2 Recurrent X Specific Non Disease gene 01586 Missense Substitution SSX6 c.44C>A p.A15D 1 Nonrecurrent X Specific Non Disease gene 01587 Missense Substitution SSX6 c.197C>A p.T66N 1 Nonrecurrent X Specific Non Disease gene 01589 Missense Substitution STARD8 c.980G>A p.R327Q 15 Recurrent X Specific Non Disease gene 01590 Missense Substitution STARD8 c.678A>C p.K226N 1 Nonrecurrent X Specific Non Disease gene 01591 Missense Substitution STARD8 c.1273G>A p.G425R 2 Recurrent X Specific Non Disease gene 01603 Missense Substitution SYTL4 c.1938G>A p.M646I 2 Recurrent X Specific Non Disease gene 01604 Missense Substitution SYTL4 c.1574G>C p.G525A 2 Recurrent X Specific Non Disease gene 01624 Missense Substitution TAF7L c.1373G>A p.R458H 3 Recurrent X Specific Non Disease gene 01626 Missense Substitution TAF7L c.922A>G p.S308G 13 Recurrent X Specific Non Disease gene 01628 Missense Substitution TAF9B c.46G>T p.A16S 1 Nonrecurrent X Specific Non Disease gene 01632 Missense Substitution TBX22 c.559G>A p.E187K 7 Recurrent X Specific Disease gene 01643 Missense Substitution TEX11 c.898G>A p.E300K 1 Nonrecurrent X Specific Non Disease gene 01644 Missense Substitution TEX11 c.1306G>A p.E436K 8 Recurrent X Specific Non Disease gene 01645 Missense Substitution TEX11 c.344A>G p.K115R 3 Recurrent X Specific Non Disease gene 01653 Missense Substitution TFDP3 c.405G>T p.Q135H 3 Recurrent X Specific Non Disease gene 01664 Missense Substitution TLR7 c.665T>A p.V222D 1 Nonrecurrent X Specific Non Disease gene 01665 Missense Substitution TLR7 c.32A>T p.Q11L 33 Recurrent X Specific Non Disease gene 01668 Missense Substitution TLR8 c.1771G>A p.V591I 1 Nonrecurrent X Specific Non Disease gene 01669 Missense Substitution TLR8 c.2343A>C p.K781N 1 Nonrecurrent X Specific Non Disease gene 01682 Missense Substitution TMEM27 c.589C>T p.P197S 1 Nonrecurrent X Specific Non Disease gene 01685 Missense Substitution TNMD c.112A>G p.I38V 2 Recurrent X Specific Non Disease gene 01687 Missense Substitution TRO c.1448C>T p.P483L 14 Recurrent X Specific Non Disease gene 01695 Missense Substitution TSPAN6 c.322G>A p.A108T 36 Recurrent X Specific Non Disease gene 01696 Missense Substitution TSPAN6 c.703C>T p.R235C 2 Recurrent X Specific Non Disease gene 01699 Missense Substitution LCAP c.938C>G p.T313S 1 Nonrecurrent X Specific Non Disease gene 01716 Missense Substitution UPRT c.483G>A p.M161I 1 Nonrecurrent X Specific Non Disease gene 01717 Missense Substitution UPRT c.215C>T p.S72F 1 Nonrecurrent X Specific Non Disease gene 01719 Missense Substitution USP11 c.448G>A p.V150M 1 Nonrecurrent X Specific Non Disease gene 01733 Missense Substitution USP51 c.1988G>A p.S663N 1 Nonrecurrent X Specific Non Disease gene 01739 Missense Substitution UTX c.2177C>A p.T726K 29 Recurrent X Specific Non Disease gene 01744 Missense Substitution VSIG4 c.480G>T p.R160S 1 Nonrecurrent X Specific Non Disease gene 01745 Missense Substitution VSIG4 c.274G>T p.V92F 2 Recurrent X Specific Non Disease gene 01746 Missense Substitution VSIG4 c.836G>A p.G279E 5 Recurrent X Specific Non Disease gene 01747 Missense Substitution VSIG4 c.1148C>T p.T383I 1 Nonrecurrent X Specific Non Disease gene 01755 Missense Substitution WDR42B c.1558G>C p.G520R 1 Nonrecurrent X Specific Non Disease gene 01756 Missense Substitution WDR42B c.643G>A p.G215S 1 Nonrecurrent X Specific Non Disease gene 01757 Missense Substitution WDR42B c.25G>A p.G9S 1 Nonrecurrent X Specific Non Disease gene 01764 Missense Substitution WNK3 c.1667C>G p.P556R 1 Nonrecurrent X Specific Non Disease gene 01765 Missense Substitution WNK3 c.3841C>T p.R1281W 1 Nonrecurrent X Specific Non Disease gene 01766 Missense Substitution WNK3 c.4219A>G p.K1407E 1 Nonrecurrent X Specific Non Disease gene 01769 Missense Substitution WWC3 c.2675G>A p.R892Q 1 Nonrecurrent X Specific Non Disease gene 01770 Missense Substitution WWC3 c.1483G>A p.A495T 4 Recurrent X Specific Non Disease gene 01771 Missense Substitution WWC3 c.2279C>T p.T760M 1 Nonrecurrent X Specific Non Disease gene 01772 Missense Substitution WWC3 c.1975G>A p.A659T 1 Nonrecurrent X Specific Non Disease gene 01777 Missense Substitution XG c.178G>A p.D60N 36 Recurrent X Specific Non Disease gene 01779 Missense Substitution XKRX c.596A>G p.Y199C 1 Nonrecurrent X Specific Non Disease gene 01780 Missense Substitution XKRX c.995A>G p.Y332C 1 Nonrecurrent X Specific Non Disease gene 01781 Missense Substitution XKRX c.1265G>A p.R422H 3 Recurrent X Specific Non Disease gene 01782 Missense Substitution XKRX c.128G>A p.R43Q 2 Recurrent X Specific Non Disease gene 0Nature Genetics: doi:10.1038/ng.367




Score1793 Missense Substitution YY2 c.622C>T p.P208S 1 Nonrecurrent X Specific Non Disease gene 01794 Missense Substitution ZBED1 c.1766A>G p.K589R 1 Nonrecurrent PAR Non Disease gene 01795 Missense Substitution ZBED1 c.595G>A p.D199N 1 Nonrecurrent PAR Non Disease gene 01796 Missense Substitution ZBED1 c.442A>G p.T148A 2 Recurrent PAR Non Disease gene 01807 Missense Substitution ZCCHC13 c.182T>C p.V61A 1 Nonrecurrent X Specific Non Disease gene 01810 Missense Substitution ZCCHC5 c.349C>T p.P117S 28 Recurrent X Specific Non Disease gene 01811 Missense Substitution ZCCHC5 c.424G>A p.A142T 7 Recurrent X Specific Non Disease gene 01816 Missense Substitution ZFX c.1870G>A p.A624T 40 Recurrent X Specific Non Disease gene 01817 Missense Substitution ZFX c.581A>G p.N194S 1 Nonrecurrent X Specific Non Disease gene 01818 Missense Substitution ZFX c.911A>G p.N304S 1 Nonrecurrent X Specific Non Disease gene 01819 Missense Substitution ZFX c.1954A>G p.I652V 5 Recurrent X Specific Non Disease gene 01820 Missense Substitution ZFX c.465T>A p.H155Q 2 Recurrent X Specific Non Disease gene 01822 Missense Substitution ZMAT1 c.128G>A p.R43K 2 Recurrent X Specific Non Disease gene 01825 Missense Substitution ZNF182 c.282C>A p.N94K 2 Recurrent X Specific Non Disease gene 01830 Missense Substitution ZNF41 c.1997C>T p.A666V 1 Nonrecurrent X Specific XLMR gene 01831 Missense Substitution ZNF41 c.374T>G p.I125R 6 Recurrent X Specific XLMR gene 01833 Missense Substitution ZNF41 c.1597A>G p.T533A 1 Nonrecurrent X Specific XLMR gene 01836 Missense Substitution ZNF449 c.337G>A p.E113K 1 Nonrecurrent X Specific Non Disease gene 01839 Missense Substitution ZNF630 c.430C>T p.R144C 1 Nonrecurrent X Specific Non Disease gene 01840 Missense Substitution ZNF630 c.212G>A p.S71N 4 Recurrent X Specific Non Disease gene 01841 Missense Substitution ZNF630 c.346T>A p.L116I 1 Nonrecurrent X Specific Non Disease gene 01845 Missense Substitution ZNF645 c.498C>A p.D166E 18 Recurrent X Specific Non Disease gene 01848 Missense Substitution ZNF673 c.289A>C p.K97Q 1 Nonrecurrent X Specific Non Disease gene 01852 Missense Substitution ZNF81 c.8C>T p.A3V 2 Recurrent X Specific XLMR gene 01856 Missense Substitution ZXDA c.2278A>G p.N760D 1 Nonrecurrent X Specific Non Disease gene 0425 Silent Substitution DGAT2L3 c.150A>G p.E50E 48 Recurrent X Specific Non Disease gene408 Silent Substitution CXYorf3 c.666C>T p.R222R 68 Recurrent PAR Non Disease gene

1544 Silent Substitution SLC7A3 c.237G>A p.L79L 1 Nonrecurrent X Specific Non Disease gene890 Silent Substitution LUZP4 c.600A>G p.Q200Q 25 Recurrent X Specific Non Disease gene

1079 Silent Substitution MXRA5 c.3747C>T p.S1249S 20 Recurrent X Specific Non Disease gene102 Silent Substitution ARSF c.1602G>A p.V534V 5 Recurrent X Specific Non Disease gene777 Silent Substitution HUWE1 c.147C>T p.C49C 1 Nonrecurrent X Specific XLMR gene858 Silent Substitution KLHL15 c.1779G>A p.P593P 1 Nonrecurrent X Specific Non Disease gene233 Silent Substitution CACNA1F c.1842C>T p.G614G 55 Recurrent X Specific Disease gene1268 Silent Substitution PLXNA3 c.5373T>C p.Y1791Y 1 Nonrecurrent X Specific Non Disease gene1042 Silent Substitution MID1 c.861G>A p.G287G 1 Nonrecurrent X Specific XLMR gene1291 Silent Substitution POF1B c.1383G>A p.T461T 2 Recurrent X Specific Disease gene693 Silent Substitution GRPR c.396G>A p.T132T 3 Recurrent X Specific Non Disease gene792 Silent Substitution IGSF1 c.3579C>T p.V1193V 42 Recurrent X Specific Non Disease gene868 Silent Substitution LAMP2 c.927C>T p.S309S 12 Recurrent X Specific XLMR gene72 Silent Substitution ARMCX5 c.1239A>G p.G413G 7 Recurrent X Specific Non Disease gene

1316 Silent Substitution PRKX c.249C>T p.P83P 95 Recurrent X Specific Non Disease gene2 Silent Substitution ABCB7 c.1323T>C p.D441D 1 Nonrecurrent X Specific Disease gene3 Silent Substitution ABCD1 c.1548G>A p.L516L 35 Recurrent X Specific XLMR gene9 Silent Substitution ACE2 c.2247G>A p.V749V 12 Recurrent X Specific Non Disease gene

14 Silent Substitution ACOT9 c.1207T>C p.L403L 36 Recurrent X Specific Non Disease gene17 Silent Substitution ACTRT1 c.954G>T p.V318V 1 Nonrecurrent X Specific Non Disease gene20 Silent Substitution AFF2 c.1488G>A p.S496S 7 Recurrent X Specific XLMR gene22 Silent Substitution AIFM1 c.801G>A p.L267L 1 Nonrecurrent X Specific Non Disease gene23 Silent Substitution AIFM1 c.273T>C p.D91D 88 Recurrent X Specific Non Disease gene24 Silent Substitution AIFM1 c.789G>A p.L263L 1 Nonrecurrent X Specific Non Disease gene25 Silent Substitution AIFM1 c.261T>C p.D87D 80 Recurrent X Specific Non Disease gene28 Silent Substitution ALG13 c.183C>T p.Y61Y 5 Recurrent X Specific Non Disease gene30 Silent Substitution AMELX c.261C>T p.H87H 30 Recurrent X Specific Disease gene31 Silent Substitution AMMECR1 c.960T>C p.N320N 2 Recurrent X Specific Non Disease gene32 Ins/Del (in frame) AMOT TGCTGTTGCTGCTGCTGCTGCTCCAG 5 Recurrent X Specific Non Disease gene33 Ins/Del (in frame) AMOT c.1857_1858insCCT p.A620>PA 5 Recurrent X Specific Non Disease gene36 Silent Substitution AMOT c.1203C>A p.I401I 18 Recurrent X Specific Non Disease gene37 Silent Substitution AMOT c.726C>T p.N242N 2 Recurrent X Specific Non Disease gene38 Silent Substitution AMOT c.15G>A p.Q5Q 4 Recurrent X Specific Non Disease gene39 Ins/Del (out of frame) AP1S2 c.180-2delTACA 1 Nonrecurrent X Specific XLMR gene40 NonsenseSubstitution AP1S2 c.106C>T p.Q36* 1 Nonrecurrent X Specific XLMR gene41 NonsenseSubstitution AP1S2 c.154C>T p.R52* 1 Nonrecurrent X Specific XLMR gene43 Silent Substitution APEX2 c.1278T>C p.T426T 1 Nonrecurrent X Specific Non Disease gene44 Silent Substitution APEX2 c.249C>T p.A83A 4 Recurrent X Specific Non Disease gene45 Silent Substitution APEX2 c.177C>T p.P59P 2 Recurrent X Specific Non Disease gene46 Silent Substitution APEX2 c.1038C>A p.L346L 5 Recurrent X Specific Non Disease gene50 Silent Substitution AR c.636G>A p.R212R 1 Nonrecurrent X Specific Disease gene51 Silent Substitution AR c.1737C>T p.S579S 1 Nonrecurrent X Specific Disease gene52 Silent Substitution AR c.639G>A p.E213E 22 Recurrent X Specific Disease gene56 Silent Substitution ARHGAP4 c.1533G>A p.K511K 1 Nonrecurrent X Specific Non Disease gene58 Silent Substitution ARHGAP6 c.2289C>A p.S763S 1 Nonrecurrent X Specific Non Disease gene61 Silent Substitution ARMCX1 c.15G>A p.R5R 1 Nonrecurrent X Specific Non Disease gene62 Silent Substitution ARMCX1 c.309C>T p.G103G 28 Recurrent X Specific Non Disease gene63 Silent Substitution ARMCX2 c.639G>A p.S213S 1 Nonrecurrent X Specific Non Disease gene64 Silent Substitution ARMCX2 c.1509G>A p.Q503Q 54 Recurrent X Specific Non Disease gene66 Silent Substitution ARMCX3 c.888G>A p.K296K 30 Recurrent X Specific Non Disease gene67 Silent Substitution ARMCX4 c.246C>T p.Y82Y 25 Recurrent X Specific Non Disease gene69 Silent Substitution ARMCX4 c.81C>T p.Y27Y 143 Recurrent X Specific Non Disease gene73 Silent Substitution ARMCX5 c.609C>T p.I203I 4 Recurrent X Specific Non Disease gene75 Ins/Del (in frame) ARSD GCGTGGGCTGCCTGTTTTTCATCTCTT 6 Recurrent X Specific Non Disease gene85 Silent Substitution ARSD c.624G>C p.A208A 17 Recurrent X Specific Non Disease gene86 Silent Substitution ARSD c.648C>T p.A216A 18 Recurrent X Specific Non Disease gene87 Silent Substitution ARSD c.570C>T p.P190P 15 Recurrent X Specific Non Disease gene88 Silent Substitution ARSD c.693C>T p.T231T 2 Recurrent X Specific Non Disease gene90 Silent Substitution ARSE c.786G>A p.T262T 6 Recurrent X Specific Disease gene91 Silent Substitution ARSE c.495T>C p.H165H 4 Recurrent X Specific Disease geneNature Genetics: doi:10.1038/ng.367




Score103 Silent Substitution ARSF c.1386C>T p.D462D 10 Recurrent X Specific Non Disease gene104 Silent Substitution ARSF c.1357C>T p.L453L 9 Recurrent X Specific Non Disease gene105 Silent Substitution ARSF c.273C>G p.P91P 71 Recurrent X Specific Non Disease gene106 Silent Substitution ARSF c.810A>G p.E270E 22 Recurrent X Specific Non Disease gene107 Silent Substitution ARSF c.18C>G p.P6P 4 Recurrent X Specific Non Disease gene108 Splice ARSF c.1102+5G>A 1 Nonrecurrent X Specific Non Disease gene112 Silent Substitution ARSH c.147C>T p.L49L 2 Recurrent X Specific Non Disease gene113 Silent Substitution ARSH c.1611A>G p.P537P 3 Recurrent X Specific Non Disease gene114 Silent Substitution ARSH c.192C>T p.T64T 11 Recurrent X Specific Non Disease gene117 Silent Substitution ASB12 c.792C>A p.A264A 1 Nonrecurrent X Specific Non Disease gene118 Silent Substitution ASB12 c.45C>T p.P15P 3 Recurrent X Specific Non Disease gene120 Silent Substitution ASB9 c.357T>C p.N119N 2 Recurrent X Specific Non Disease gene122 Silent Substitution ASMT c.187C>T p.L63L 1 Nonrecurrent PAR Non Disease gene123 Silent Substitution ASMT c.45C>T p.Y15Y 1 Nonrecurrent PAR Non Disease gene124 Silent Substitution ASMT c.861C>T p.D287D 26 Recurrent PAR Non Disease gene130 Silent Substitution ASMTL c.1215G>A p.A405A 1 Nonrecurrent PAR Non Disease gene131 Silent Substitution ASMTL c.1671G>A p.T557T 1 Nonrecurrent PAR Non Disease gene132 Silent Substitution ASMTL c.996G>A p.A332A 1 Nonrecurrent PAR Non Disease gene133 Silent Substitution ASMTL c.1101G>A p.S367S 1 Nonrecurrent PAR Non Disease gene134 Silent Substitution ASMTL c.1386G>C p.T462T 70 Recurrent PAR Non Disease gene135 Silent Substitution ASMTL c.276A>G p.T92T 14 Recurrent PAR Non Disease gene136 Silent Substitution ASMTL c.732C>T p.G244G 74 Recurrent PAR Non Disease gene137 Silent Substitution ASMTL c.648T>C p.R216R 72 Recurrent PAR Non Disease gene138 Ins/Del (out of frame) ASMTL c.1864delT p.*622fs*8 68 Recurrent PAR Non Disease gene145 Silent Substitution ATP11C c.1653T>C p.S551S 1 Nonrecurrent X Specific Non Disease gene148 Silent Substitution ATP1B4 c.261G>A p.Q87Q 1 Nonrecurrent X Specific Non Disease gene150 Silent Substitution ATP2B3 c.1014G>A p.E338E 1 Nonrecurrent X Specific Non Disease gene151 Silent Substitution ATP2B3 c.588G>A p.T196T 1 Nonrecurrent X Specific Non Disease gene152 Silent Substitution ATP2B3 c.1686C>G p.R562R 1 Nonrecurrent X Specific Non Disease gene153 Silent Substitution ATP2B3 c.1473A>G p.G491G 116 Recurrent X Specific Non Disease gene154 Silent Substitution ATP2B3 c.2592G>C p.V864V 111 Recurrent X Specific Non Disease gene155 Silent Substitution ATP6AP2 c.472C>T p.L158L 1 Nonrecurrent X Specific XLMR gene156 Silent Substitution ATP6AP2 c.765T>C p.Y255Y 1 Nonrecurrent X Specific XLMR gene159 Silent Substitution ATP7A c.327G>A p.K109K 2 Recurrent X Specific XLMR gene160 Ins/Del (in frame) ATRX 568_576delGCTTTTAAG p.A190_S193> 1 Nonrecurrent X Specific XLMR gene169 Silent Substitution ATRX c.6642C>T p.Y2214Y 1 Nonrecurrent X Specific XLMR gene170 Silent Substitution ATRX c.234C>T p.S78S 1 Nonrecurrent X Specific XLMR gene173 Silent Substitution ATXN3L c.939G>A p.R313R 22 Recurrent X Specific Non Disease gene174 NonsenseSubstitution ATXN3L c.76G>T p.E26* 1 Nonrecurrent X Specific Non Disease gene176 Silent Substitution AVPR2 c.1017G>A p.L339L 1 Nonrecurrent X Specific Disease gene177 Silent Substitution AVPR2 c.117G>A p.A39A 1 Nonrecurrent X Specific Disease gene178 Silent Substitution AVPR2 c.927A>G p.L309L 49 Recurrent X Specific Disease gene179 Silent Substitution AVPR2 c.993C>T p.S331S 4 Recurrent X Specific Disease gene181 Silent Substitution BCOR c.1650C>T p.T550T 1 Nonrecurrent X Specific XLMR gene182 Silent Substitution BCOR c.3348C>T p.P1116P 1 Nonrecurrent X Specific XLMR gene183 Silent Substitution BCOR c.1257A>G p.K419K 1 Nonrecurrent X Specific XLMR gene184 Silent Substitution BCOR c.1692A>G p.A564A 14 Recurrent X Specific XLMR gene185 Silent Substitution BCOR c.1260T>C p.D420D 167 Recurrent X Specific XLMR gene190 Silent Substitution BCORL1 c.2064C>T p.V688V 1 Nonrecurrent X Specific Non Disease gene191 Silent Substitution BCORL1 c.4011C>T p.S1337S 1 Nonrecurrent X Specific Non Disease gene192 Silent Substitution BCORL1 c.1446G>A p.P482P 2 Recurrent X Specific Non Disease gene194 Silent Substitution BEX2 c.204C>T p.D68D 1 Nonrecurrent X Specific Non Disease gene197 Silent Substitution BEX4 c.567C>T p.C189C 2 Recurrent X Specific Non Disease gene198 Splice BEX4 c.103+1G>A 1 Nonrecurrent X Specific Non Disease gene200 Silent Substitution BGN c.540C>T p.S180S 77 Recurrent X Specific Non Disease gene201 Silent Substitution BGN c.141G>A p.S47S 89 Recurrent X Specific Non Disease gene202 Silent Substitution BGN c.564C>T p.I188I 3 Recurrent X Specific Non Disease gene203 Silent Substitution BHLHB9 c.1212T>C p.H404H 1 Nonrecurrent X Specific Non Disease gene210 Ins/Del (in frame) BMP15 c.788_789insTCT p.R264> 1 Nonrecurrent X Specific Disease gene216 Silent Substitution BMP15 c.852C>T p.S284S 2 Recurrent X Specific Disease gene220 Silent Substitution BMX c.264T>A p.L88L 1 Nonrecurrent X Specific Non Disease gene222 Ins/Del (out of frame) BRWD3 c.946_947insA p.R316fs*2 1 Nonrecurrent X Specific XLMR gene223 Splice BRWD3 c.3325+1G>T 1 Nonrecurrent X Specific XLMR gene224 Silent Substitution BTK c.1899C>T p.C633C 32 Recurrent X Specific Disease gene227 Silent Substitution CA5B c.189C>A p.R63R 1 Nonrecurrent X Specific Non Disease gene228 Silent Substitution CA5B c.918G>A p.A306A 66 Recurrent X Specific Non Disease gene234 Silent Substitution CACNA1F c.3846G>A p.E1282E 1 Nonrecurrent X Specific Disease gene235 Silent Substitution CACNA1F c.5862C>T p.D1954D 1 Nonrecurrent X Specific Disease gene236 Silent Substitution CACNA1F c.3309T>C p.H1103H 53 Recurrent X Specific Disease gene239 Silent Substitution CAPN6 c.1449C>T p.L483L 1 Nonrecurrent X Specific Non Disease gene240 Silent Substitution CAPN6 c.432C>T p.N144N 1 Nonrecurrent X Specific Non Disease gene241 Silent Substitution CAPN6 c.1026T>C p.N342N 8 Recurrent X Specific Non Disease gene244 Silent Substitution CASK c.1392C>T p.T464T 1 Nonrecurrent X Specific Non Disease gene246 Silent Substitution CCDC120 c.102G>T p.G34G 1 Nonrecurrent X Specific Non Disease gene250 Silent Substitution CCDC22 c.747G>A p.Q249Q 29 Recurrent X Specific Non Disease gene253 Silent Substitution CCNB3 c.3750C>T p.N1250N 1 Nonrecurrent X Specific Non Disease gene255 Silent Substitution CD40LG c.148T>C p.L50L 36 Recurrent X Specific Disease gene259 Silent Substitution CD99 c.363C>T p.A121A 10 Recurrent PAR Non Disease gene261 Silent Substitution CD99L2 c.24C>T p.F8F 3 Recurrent X Specific Non Disease gene265 Silent Substitution CDKL5 c.3003C>T p.H1001H 1 Nonrecurrent X Specific XLMR gene266 Silent Substitution CDKL5 c.3084G>A p.T1028T 1 Nonrecurrent X Specific XLMR gene269 Silent Substitution CDR1 c.300G>A p.L100L 1 Nonrecurrent X Specific Non Disease gene272 Silent Substitution CENPI c.1674G>A p.L558L 1 Nonrecurrent X Specific Non Disease gene273 Silent Substitution CENPI c.1479G>T p.V493V 51 Recurrent X Specific Non Disease gene276 Silent Substitution CFP c.1284C>T p.N428N 26 Recurrent X Specific Disease gene279 Silent Substitution CHM c.351A>G p.A117A 28 Recurrent X Specific Disease gene280 Silent Substitution CHM c.1641G>T p.L547L 2 Recurrent X Specific Disease geneNature Genetics: doi:10.1038/ng.367




Score281 Silent Substitution CHRDL1 c.951A>G p.K317K 74 Recurrent X Specific Non Disease gene285 Silent Substitution CLCN4 c.1758G>A p.V586V 1 Nonrecurrent X Specific Non Disease gene286 Silent Substitution CLCN4 c.1632G>A p.G544G 1 Nonrecurrent X Specific Non Disease gene287 Silent Substitution CLCN4 c.1437G>A p.A479A 6 Recurrent X Specific Non Disease gene298 Silent Substitution CNGA2 c.840C>T p.L280L 1 Nonrecurrent X Specific Non Disease gene299 Silent Substitution CNGA2 c.1527G>A p.Q509Q 1 Nonrecurrent X Specific Non Disease gene300 Silent Substitution CNGA2 c.582G>A p.L194L 17 Recurrent X Specific Non Disease gene303 Silent Substitution CNKSR2 c.651A>G p.Q217Q 1 Nonrecurrent X Specific Non Disease gene306 Silent Substitution COL4A5 c.2571A>G p.G857G 1 Nonrecurrent X Specific Disease gene313 Silent Substitution COL4A6 c.3078C>T p.G1026G 35 Recurrent X Specific Disease gene314 Silent Substitution COL4A6 c.3402C>T p.A1134A 4 Recurrent X Specific Disease gene320 Silent Substitution MED14 c.4041G>A p.P1347P 1 Nonrecurrent X Specific Non Disease gene321 Silent Substitution MED14 c.2094A>G p.Q698Q 2 Recurrent X Specific Non Disease gene324 Silent Substitution CSAG4 c.78C>T p.P26P 37 Recurrent X Specific Non Disease gene328 Silent Substitution CSF2RA c.987G>C p.V329V 1 Nonrecurrent PAR Non Disease gene329 Silent Substitution CSF2RA c.999G>A p.V333V 91 Recurrent PAR Non Disease gene332 Silent Substitution CTAG2 c.345T>G p.P115P 60 Recurrent X Specific Non Disease gene334 Silent Substitution CTPS2 c.1599G>A p.P533P 4 Recurrent X Specific Non Disease gene337 Silent Substitution CUL4B c.2234T>C p.V745A 1 Nonrecurrent X Specific XLMR gene338 Ins/Del (out of frame) CUL4B c.1007_1011delTTATA p.I336fs*2 1 Nonrecurrent X Specific XLMR gene339 NonsenseSubstitution CUL4B c.1162C>T p.R388* 1 Nonrecurrent X Specific XLMR gene340 NonsenseSubstitution CUL4B c.2566C>T p.R856* 1 Nonrecurrent X Specific XLMR gene341 Splice CUL4B c.901-2A>G 1 Nonrecurrent X Specific XLMR gene342 Splice CUL4B c.2493G>A p.T831T 1 Nonrecurrent X Specific XLMR gene347 Silent Substitution CXorf15 c.1326G>A p.Q442Q 62 Recurrent X Specific Non Disease gene350 Silent Substitution CXorf20 c.1164C>A p.P388P 1 Nonrecurrent X Specific Non Disease gene352 Silent Substitution CXorf21 c.627T>G p.V209V 122 Recurrent X Specific Non Disease gene355 Silent Substitution CXorf22 c.223C>A p.R75R 1 Nonrecurrent X Specific Non Disease gene356 Silent Substitution CXorf22 c.129C>T p.I43I 22 Recurrent X Specific Non Disease gene357 Silent Substitution CXorf22 c.180C>T p.L60L 3 Recurrent X Specific Non Disease gene358 Silent Substitution CXorf22 c.630G>A p.Q210Q 3 Recurrent X Specific Non Disease gene359 Silent Substitution CXorf22 c.1926T>C p.L642L 10 Recurrent X Specific Non Disease gene365 Silent Substitution CXorf27 c.171C>T p.L57L 2 Recurrent X Specific Non Disease gene367 Silent Substitution CXorf28 c.63G>A p.G21G 17 Recurrent X Specific Non Disease gene373 Silent Substitution CXorf30 c.261A>G p.L87L 2 Recurrent X Specific Non Disease gene374 Silent Substitution CXorf30 c.18A>G p.E6E 5 Recurrent X Specific Non Disease gene379 Silent Substitution CXorf38 c.76T>C p.L26L 97 Recurrent X Specific Non Disease gene380 Silent Substitution CXorf41 c.333G>A p.E111E 1 Nonrecurrent X Specific Non Disease gene382 Silent Substitution HDX c.1683G>A p.P561P 31 Recurrent X Specific Non Disease gene384 Silent Substitution CXorf56 c.375C>T p.G125G 89 Recurrent X Specific Non Disease gene386 Silent Substitution CXorf57 c.2418A>G p.P806P 1 Nonrecurrent X Specific Non Disease gene389 Silent Substitution CXorf58 c.21A>T p.V7V 1 Nonrecurrent X Specific Non Disease gene395 Silent Substitution CXorf6 c.207C>T p.G69G 1 Nonrecurrent X Specific Disease gene400 Silent Substitution CXYorf2 c.390T>C p.D130D 33 Recurrent PAR Non Disease gene401 Silent Substitution CXYorf2 c.268C>T p.L90L 44 Recurrent PAR Non Disease gene409 Silent Substitution CXYorf3 c.1923G>A p.P641P 1 Nonrecurrent PAR Non Disease gene410 Silent Substitution CXYorf3 c.585C>T p.Y195Y 1 Nonrecurrent PAR Non Disease gene411 Silent Substitution CXYorf3 c.705C>T p.R235R 1 Nonrecurrent PAR Non Disease gene412 Silent Substitution CXYorf3 c.255C>T p.N85N 7 Recurrent PAR Non Disease gene413 Silent Substitution CXYorf3 c.9G>A p.A3A 5 Recurrent PAR Non Disease gene414 Silent Substitution CYSLTR1 c.927C>T p.F309F 139 Recurrent X Specific Non Disease gene422 Silent Substitution DDX53 c.1074C>T p.D358D 2 Recurrent X Specific Non Disease gene426 Silent Substitution DGAT2L3 c.648G>A p.T216T 4 Recurrent X Specific Non Disease gene431 Silent Substitution DIAPH2 c.588C>T p.S196S 2 Recurrent X Specific Disease gene432 Silent Substitution DKC1 c.1461C>T p.A487A 5 Recurrent X Specific XLMR gene434 Silent Substitution DLG3 c.429C>T p.F143F 1 Nonrecurrent X Specific XLMR gene440 Silent Substitution DMD c.1653G>A p.P551P 1 Nonrecurrent X Specific XLMR gene441 Silent Substitution DMD c.240G>A p.K80K 1 Nonrecurrent X Specific XLMR gene442 Silent Substitution DMD c.348T>C p.N116N 33 Recurrent X Specific XLMR gene443 Silent Substitution DMD c.3409C>T p.L1137L 2 Recurrent X Specific XLMR gene446 Silent Substitution DNASE1L1 c.294G>A p.T98T 1 Nonrecurrent X Specific Non Disease gene447 Silent Substitution DNASE1L1 c.201C>G p.P67P 114 Recurrent X Specific Non Disease gene452 Silent Substitution DRP2 c.1746G>A p.E582E 1 Nonrecurrent X Specific Non Disease gene453 Silent Substitution DRP2 c.1938G>T p.L646L 3 Recurrent X Specific Non Disease gene454 Splice DRP2 c.1445+5G>A 7 Recurrent X Specific Non Disease gene455 Splice DRP2 c.1096+1G>C 1 Nonrecurrent X Specific Non Disease gene459 Silent Substitution DYNLT3 c.183C>T p.A61A 22 Recurrent X Specific Non Disease gene460 Silent Substitution EDA c.757C>T p.L253L 1 Nonrecurrent X Specific Disease gene462 Silent Substitution EDA2R c.621C>T p.N207N 1 Nonrecurrent X Specific Non Disease gene468 Silent Substitution EFNB1 c.891C>T p.T297T 1 Nonrecurrent X Specific Disease gene472 Silent Substitution EGFL6 c.1087C>A p.R363R 1 Nonrecurrent X Specific Non Disease gene473 Silent Substitution EGFL6 c.867C>T p.S289S 6 Recurrent X Specific Non Disease gene476 Silent Substitution EIF2S3 c.99C>T p.H33H 120 Recurrent X Specific Non Disease gene477 Silent Substitution ELF4 c.1107G>A p.S369S 3 Recurrent X Specific Non Disease gene478 Silent Substitution ELF4 c.1509G>A p.T503T 54 Recurrent X Specific Non Disease gene479 Silent Substitution ELF4 c.1152A>T p.P384P 3 Recurrent X Specific Non Disease gene482 Silent Substitution ELK1 c.141G>A p.G47G 1 Nonrecurrent X Specific Non Disease gene483 Silent Substitution ELK1 c.672C>A p.P224P 2 Recurrent X Specific Non Disease gene488 Silent Substitution ESX1 c.225G>A p.E75E 2 Recurrent X Specific Non Disease gene494 Silent Substitution F8 c.102C>T p.D34D 1 Nonrecurrent X Specific Disease gene495 Silent Substitution F8 c.3864A>C p.S1288S 10 Recurrent X Specific Disease gene498 Silent Substitution F9 c.819T>C p.V273V 2 Recurrent X Specific Disease gene500 Silent Substitution FAAH2 c.966G>A p.V322V 1 Nonrecurrent X Specific Non Disease gene501 Silent Substitution FAAH2 c.1404T>C p.P468P 17 Recurrent X Specific Non Disease gene502 Silent Substitution FAAH2 c.99T>C p.G33G 42 Recurrent X Specific Non Disease gene503 Ins/Del (in frame) FAM120C c.329_330insGCCGCC p.Q112>PPQ 11 Recurrent X Specific Non Disease gene507 Silent Substitution FAM122B c.255A>G p.S85S 1 Nonrecurrent X Specific Non Disease geneNature Genetics: doi:10.1038/ng.367




Score508 Silent Substitution FAM122B c.84A>G p.L28L 1 Nonrecurrent X Specific Non Disease gene509 Silent Substitution FAM122B c.252A>G p.Q84Q 6 Recurrent X Specific Non Disease gene513 Silent Substitution FAM123B c.135C>T p.S45S 2 Recurrent X Specific Non Disease gene515 Silent Substitution FAM3A c.393C>T p.N131N 1 Nonrecurrent X Specific Non Disease gene525 NonsenseSubstitution FAM47B c.331C>T p.Q111* 1 Nonrecurrent X Specific Non Disease gene529 Silent Substitution FAM47C c.552G>A p.G184G 2 Recurrent X Specific Non Disease gene532 Silent Substitution FAM50A c.612C>T p.S204S 1 Nonrecurrent X Specific Non Disease gene538 Silent Substitution FANCB c.2004C>T p.A668A 1 Nonrecurrent X Specific XLMR gene543 Silent Substitution FGD1 c.2091T>C p.T697T 3 Recurrent X Specific XLMR gene544 Silent Substitution FGD1 c.2136A>G p.P712P 2 Recurrent X Specific XLMR gene546 Silent Substitution FHL1 c.441C>T p.D147D 2 Recurrent X Specific Non Disease gene547 Silent Substitution FIGF c.111G>A p.L37L 6 Recurrent X Specific Non Disease gene550 Silent Substitution FLNA c.3897C>T p.N1299N 1 Nonrecurrent X Specific XLMR gene551 Silent Substitution FLNA c.7434G>A p.E2478E 1 Nonrecurrent X Specific XLMR gene552 Silent Substitution FLNA c.6642G>C p.V2214V 1 Nonrecurrent X Specific XLMR gene553 Silent Substitution FLNA c.5850T>C p.A1950A 17 Recurrent X Specific XLMR gene554 Silent Substitution FMR1 c.1857C>T p.D619D 1 Nonrecurrent X Specific XLMR gene555 Silent Substitution FMR1 c.414G>A p.R138R 21 Recurrent X Specific XLMR gene559 Silent Substitution FOXP3 c.1221C>T p.T407T 1 Nonrecurrent X Specific Disease gene560 Silent Substitution FOXP3 c.543C>T p.S181S 8 Recurrent X Specific Disease gene563 Silent Substitution FOXR2 c.42C>T p.L14L 1 Nonrecurrent X Specific Non Disease gene567 Silent Substitution FRMD7 c.1527C>T p.S509S 1 Nonrecurrent X Specific Non Disease gene568 Silent Substitution FRMD7 c.69C>T p.S23S 19 Recurrent X Specific Non Disease gene569 Silent Substitution FRMD7 c.1533T>C p.I511I 61 Recurrent X Specific Non Disease gene570 Silent Substitution FRMD7 c.1101T>C p.N367N 16 Recurrent X Specific Non Disease gene575 Silent Substitution FRMPD3 c.1263C>T p.C421C 1 Nonrecurrent X Specific Non Disease gene576 Silent Substitution FRMPD3 c.816T>C p.L272L 1 Nonrecurrent X Specific Non Disease gene577 Silent Substitution FRMPD3 c.5454A>G p.Q1818Q 3 Recurrent X Specific Non Disease gene578 Silent Substitution FRMPD3 c.2205G>A p.E735E 2 Recurrent X Specific Non Disease gene579 Silent Substitution FRMPD4 c.2868C>T p.S956S 1 Nonrecurrent X Specific Non Disease gene580 Silent Substitution FRMPD4 c.3937C>A p.R1313R 1 Nonrecurrent X Specific Non Disease gene581 Silent Substitution FRMPD4 c.438G>A p.S146S 1 Nonrecurrent X Specific Non Disease gene582 Silent Substitution FRMPD4 c.1401C>G p.V467V 17 Recurrent X Specific Non Disease gene583 Silent Substitution FTHL17 c.141G>A p.V47V 11 Recurrent X Specific Non Disease gene585 Silent Substitution FTSJ1 c.738G>A p.S246S 1 Nonrecurrent X Specific XLMR gene586 Silent Substitution FUNDC1 c.48C>T p.D16D 5 Recurrent X Specific Non Disease gene587 Silent Substitution FUNDC1 c.81A>C p.A27A 3 Recurrent X Specific Non Disease gene595 Silent Substitution GABRE c.579C>T p.A193A 10 Recurrent X Specific Non Disease gene596 Silent Substitution GABRE c.186G>A p.G62G 2 Recurrent X Specific Non Disease gene597 Silent Substitution GABRE c.240C>T p.A80A 14 Recurrent X Specific Non Disease gene600 Silent Substitution GABRQ c.660C>T p.N220N 1 Nonrecurrent X Specific Non Disease gene601 Silent Substitution GABRQ c.1464C>T p.A488A 1 Nonrecurrent X Specific Non Disease gene604 Silent Substitution GDPD2 c.792T>C p.D264D 15 Recurrent X Specific Non Disease gene606 Silent Substitution GK c.165G>A p.Q55Q 22 Recurrent X Specific XLMR gene612 Silent Substitution GLRA2 c.747T>C p.H249H 65 Recurrent X Specific Non Disease gene616 Silent Substitution GLRA4 c.555C>G p.T185T 51 Recurrent X Specific Non Disease gene618 Ins/Del (in frame) GNL3L c.177_179delAAA p.K62_W63>W 3 Recurrent X Specific Non Disease gene623 Silent Substitution GNL3L c.1563C>T p.D521D 1 Nonrecurrent X Specific Non Disease gene628 Silent Substitution GPKOW c.366G>A p.A122A 1 Nonrecurrent X Specific Non Disease gene629 Silent Substitution GPM6B c.105C>T p.Y35Y 2 Recurrent X Specific Non Disease gene633 Silent Substitution GPR101 c.735G>A p.E245E 1 Nonrecurrent X Specific Non Disease gene634 Silent Substitution GPR101 c.1224T>C p.Y408Y 1 Nonrecurrent X Specific Non Disease gene635 Ins/Del (in frame) GPR112 c.7969_7971delGAT p.D2657_M2658>M 125 Recurrent X Specific Non Disease gene650 Silent Substitution GPR112 c.5517A>G p.S1839S 1 Nonrecurrent X Specific Non Disease gene651 Silent Substitution GPR112 c.7938C>T p.T2646T 1 Nonrecurrent X Specific Non Disease gene652 Silent Substitution GPR112 c.3252G>A p.L1084L 1 Nonrecurrent X Specific Non Disease gene653 Silent Substitution GPR112 c.5493C>T p.P1831P 97 Recurrent X Specific Non Disease gene654 Silent Substitution GPR112 c.7941C>A p.T2647T 124 Recurrent X Specific Non Disease gene655 Silent Substitution GPR112 c.8271T>C p.F2757F 118 Recurrent X Specific Non Disease gene656 Silent Substitution GPR112 c.9117G>A p.T3039T 123 Recurrent X Specific Non Disease gene657 Silent Substitution GPR112 c.4179T>C p.T1393T 94 Recurrent X Specific Non Disease gene658 Silent Substitution GPR112 c.4938C>G p.L1646L 7 Recurrent X Specific Non Disease gene661 Silent Substitution GPR173 c.1062C>T p.H354H 30 Recurrent X Specific Non Disease gene662 Silent Substitution GPR173 c.87G>A p.L29L 23 Recurrent X Specific Non Disease gene667 Ins/Del (in frame) GPR50 05_1516delCCACTGGCCACA p.T502_I5 79 Recurrent X Specific Non Disease gene673 Silent Substitution GPR50 c.1269C>T p.G423G 1 Nonrecurrent X Specific Non Disease gene674 Silent Substitution GPR50 c.555C>T p.N185N 2 Recurrent X Specific Non Disease gene675 Silent Substitution GPR50 c.1689G>A p.S563S 2 Recurrent X Specific Non Disease gene677 Silent Substitution GPR64 c.2007G>C p.L669L 1 Nonrecurrent X Specific Non Disease gene678 Silent Substitution GPR64 c.1605G>A p.S535S 3 Recurrent X Specific Non Disease gene679 Silent Substitution GPR82 c.939T>C p.D313D 24 Recurrent X Specific Non Disease gene682 Silent Substitution GPRASP1 c.3840G>A p.G1280G 1 Nonrecurrent X Specific Non Disease gene685 Silent Substitution GPRASP2 c.2163C>T p.S721S 2 Recurrent X Specific Non Disease gene687 Silent Substitution GRIA3 c.1200T>C p.N400N 110 Recurrent X Specific XLMR gene690 Silent Substitution GRIPAP1 c.1242C>T p.S414S 1 Nonrecurrent X Specific Non Disease gene691 Silent Substitution GRIPAP1 c.591C>T p.H197H 1 Nonrecurrent X Specific Non Disease gene694 Silent Substitution GRPR c.720T>C p.S240S 1 Nonrecurrent X Specific Non Disease gene695 Silent Substitution GRPR c.663T>C p.I221I 49 Recurrent X Specific Non Disease gene696 Silent Substitution GRPR c.453T>C p.S151S 37 Recurrent X Specific Non Disease gene700 Silent Substitution GSPT2 c.919T>C p.L307L 1 Nonrecurrent X Specific Non Disease gene707 Silent Substitution GTPBP6 c.324C>T p.H108H 1 Nonrecurrent PAR Non Disease gene708 NonsenseSubstitution GTPBP6 c.118C>T p.Q40* 81 Recurrent PAR Non Disease gene717 Silent Substitution GUCY2F c.2050C>T p.L684L 1 Nonrecurrent X Specific Non Disease gene722 Silent Substitution GYG2 c.651G>A p.P217P 1 Nonrecurrent X Specific Non Disease gene724 Ins/Del (out of frame) H2BFWT c.510delA p.Q171fs*5 2 Recurrent X Specific Non Disease gene729 Silent Substitution HCFC1 c.420C>G p.T140T 1 Nonrecurrent X Specific Non Disease gene730 Silent Substitution HCFC1 c.5106C>A p.P1702P 1 Nonrecurrent X Specific Non Disease geneNature Genetics: doi:10.1038/ng.367




Score731 Silent Substitution HCFC1 c.5199G>A p.L1733L 1 Nonrecurrent X Specific Non Disease gene732 Silent Substitution HCFC1 c.1992C>G p.T664T 22 Recurrent X Specific Non Disease gene733 Silent Substitution HCFC1 c.3894G>A p.A1298A 29 Recurrent X Specific Non Disease gene734 Silent Substitution HCFC1 c.5568C>T p.C1856C 100 Recurrent X Specific Non Disease gene735 Silent Substitution HCFC1 c.1818G>A p.T606T 3 Recurrent X Specific Non Disease gene736 Silent Substitution HCFC1 c.4251G>T p.L1417L 19 Recurrent X Specific Non Disease gene737 Splice HCFC1 c.5088+2T>C 1 Nonrecurrent X Specific Non Disease gene742 Silent Substitution HDAC8 c.957C>T p.T319T 1 Nonrecurrent X Specific Non Disease gene743 Silent Substitution HDAC8 c.159G>A p.Q53Q 4 Recurrent X Specific Non Disease gene746 Silent Substitution HDHD1A c.291G>A p.L97L 46 Recurrent X Specific Non Disease gene747 Silent Substitution HDHD1A c.312G>A p.A104A 46 Recurrent X Specific Non Disease gene748 Silent Substitution HDHD1A c.414G>A p.P138P 88 Recurrent X Specific Non Disease gene749 Silent Substitution HDHD1A c.315G>A p.S105S 4 Recurrent X Specific Non Disease gene753 Silent Substitution HEPH c.3042C>T p.G1014G 1 Nonrecurrent X Specific Non Disease gene754 Silent Substitution HEPH c.96C>A p.I32I 1 Nonrecurrent X Specific Non Disease gene755 Silent Substitution HEPH c.1068C>A p.G356G 1 Nonrecurrent X Specific Non Disease gene756 Silent Substitution HEPH c.2379A>G p.T793T 43 Recurrent X Specific Non Disease gene757 Silent Substitution HEPH c.2295T>C p.Y765Y 44 Recurrent X Specific Non Disease gene759 Silent Substitution HNRPH2 c.1320C>T p.N440N 5 Recurrent X Specific Non Disease gene762 Silent Substitution HSD17B10 c.574C>A p.R192R 1 Nonrecurrent X Specific XLMR gene765 Silent Substitution HTATSF1 c.1725C>T p.D575D 20 Recurrent X Specific Non Disease gene767 Silent Substitution HTR2C c.717C>T p.Y239Y 1 Nonrecurrent X Specific Non Disease gene774 Silent Substitution HUWE1 c.2655C>T p.L885L 1 Nonrecurrent X Specific XLMR gene775 Silent Substitution HUWE1 c.10377T>C p.F3459F 2 Recurrent X Specific XLMR gene776 Silent Substitution HUWE1 c.2109A>G p.S703S 97 Recurrent X Specific XLMR gene778 Silent Substitution HUWE1 c.9771G>A p.R3257R 2 Recurrent X Specific XLMR gene779 Silent Substitution HUWE1 c.4680A>G p.G1560G 1 Nonrecurrent X Specific XLMR gene783 Silent Substitution IDS c.438C>T p.T146T 62 Recurrent X Specific XLMR gene786 Silent Substitution IGBP1 c.597G>A p.R199R 1 Nonrecurrent X Specific XLMR gene793 Silent Substitution IGSF1 c.732G>A p.L244L 1 Nonrecurrent X Specific Non Disease gene794 Silent Substitution IGSF1 c.1347A>G p.E449E 55 Recurrent X Specific Non Disease gene795 Silent Substitution IGSF1 c.2556T>C p.Y852Y 58 Recurrent X Specific Non Disease gene797 Silent Substitution IL13RA1 c.1050C>T p.L350L 6 Recurrent X Specific Non Disease gene801 Silent Substitution IL1RAPL1 c.36C>T p.Y12Y 1 Nonrecurrent X Specific XLMR gene802 Silent Substitution IL1RAPL1 c.1605G>T p.T535T 1 Nonrecurrent X Specific XLMR gene805 Silent Substitution IL1RAPL2 c.1059T>C p.Y353Y 19 Recurrent X Specific Non Disease gene807 NonsenseSubstitution IL9R c.58C>T p.R20* 1 Nonrecurrent PAR Non Disease gene814 Silent Substitution IRAK1 c.585C>T p.P195P 1 Nonrecurrent X Specific Non Disease gene815 Silent Substitution IRAK1 c.483C>T p.V161V 162 Recurrent X Specific Non Disease gene819 Silent Substitution IRS4 c.1353C>T p.N451N 1 Nonrecurrent X Specific Non Disease gene820 Silent Substitution IRS4 c.3663G>A p.R1221R 1 Nonrecurrent X Specific Non Disease gene828 Silent Substitution ITIH5L c.1995A>G p.K665K 1 Nonrecurrent X Specific Non Disease gene829 NonsenseSubstitution ITIH5L c.670C>T p.R224* 1 Nonrecurrent X Specific Non Disease gene830 Splice ITIH5L c.1075+1insT 1 Nonrecurrent X Specific Non Disease gene832 Silent Substitution ITM2A c.606G>A p.V202V 1 Nonrecurrent X Specific Non Disease gene835 Silent Substitution JARID1C c.1764G>A p.Q588Q 1 Nonrecurrent X Specific XLMR gene836 Silent Substitution JARID1C c.564G>A p.K188K 1 Nonrecurrent X Specific XLMR gene840 Silent Substitution KAL1 c.1833C>T p.I611I 100 Recurrent X Specific Disease gene842 Silent Substitution KCND1 c.1164C>T p.F388F 1 Nonrecurrent X Specific Non Disease gene849 Silent Substitution KIAA2022 c.2598C>A p.S866S 2 Recurrent X Specific Non Disease gene853 Silent Substitution KIF4A c.987T>C p.Y329Y 5 Recurrent X Specific Non Disease gene854 Silent Substitution KIF4A c.273C>T p.G91G 2 Recurrent X Specific Non Disease gene855 Silent Substitution KIF4A c.1656C>T p.P552P 7 Recurrent X Specific Non Disease gene856 Silent Substitution KIF4A c.969A>G p.T323T 4 Recurrent X Specific Non Disease gene857 Ins/Del (in frame) KLHL15 c.716_721delCAGAAT p.S239_F241>F 1 Nonrecurrent X Specific Non Disease gene860 Silent Substitution KLHL4 c.1062G>T p.G354G 38 Recurrent X Specific Non Disease gene861 Silent Substitution KLHL4 c.1359C>T p.T453T 140 Recurrent X Specific Non Disease gene869 Silent Substitution LAMP2 c.519A>G p.V173V 1 Nonrecurrent X Specific XLMR gene870 Silent Substitution LAMP2 c.156A>T p.V52V 78 Recurrent X Specific XLMR gene872 Silent Substitution LANCL3 c.789C>T p.S263S 33 Recurrent X Specific Non Disease gene873 Silent Substitution LANCL3 c.717G>A p.S239S 4 Recurrent X Specific Non Disease gene875 Silent Substitution LHFPL1 c.375T>C p.F125F 12 Recurrent X Specific Non Disease gene876 Silent Substitution PRICKLE3 c.1251G>A p.A417A 1 Nonrecurrent X Specific Non Disease gene877 Silent Substitution PRICKLE3 c.1662C>T p.S554S 14 Recurrent X Specific Non Disease gene880 Silent Substitution LONRF3 c.1428C>T p.Y476Y 1 Nonrecurrent X Specific Non Disease gene881 Silent Substitution LONRF3 c.924G>A p.P308P 1 Nonrecurrent X Specific Non Disease gene882 Silent Substitution LONRF3 c.1911A>G p.A637A 74 Recurrent X Specific Non Disease gene883 Silent Substitution LONRF3 c.846T>C p.N282N 5 Recurrent X Specific Non Disease gene884 Silent Substitution LONRF3 c.42T>C p.A14A 11 Recurrent X Specific Non Disease gene888 Silent Substitution LRCH2 c.687G>A p.E229E 1 Nonrecurrent X Specific Non Disease gene889 Silent Substitution LRCH2 c.1923T>C p.H641H 1 Nonrecurrent X Specific Non Disease gene891 Silent Substitution LUZP4 c.618C>T p.G206G 4 Recurrent X Specific Non Disease gene892 Silent Substitution LUZP4 c.603T>A p.S201S 8 Recurrent X Specific Non Disease gene893 Silent Substitution LUZP4 c.597T>C p.G199G 7 Recurrent X Specific Non Disease gene894 Silent Substitution LUZP4 c.537G>A p.Q179Q 2 Recurrent X Specific Non Disease gene898 Silent Substitution MAGEA1 c.354A>T p.R118R 2 Recurrent X Specific Non Disease gene899 Silent Substitution MAGEA11 c.747C>T p.L249L 99 Recurrent X Specific Non Disease gene900 Silent Substitution MAGEA12 c.807C>T p.Y269Y 1 Nonrecurrent X Specific Non Disease gene901 Silent Substitution MAGEA12 c.888A>G p.G296G 71 Recurrent X Specific Non Disease gene908 Silent Substitution MAGEA4 c.84A>G p.A28A 102 Recurrent X Specific Non Disease gene909 Silent Substitution MAGEA4 c.648C>T p.S216S 9 Recurrent X Specific Non Disease gene916 Silent Substitution MAGEA5 c.12G>A p.E4E 1 Nonrecurrent X Specific Non Disease gene917 Silent Substitution MAGEA5 c.141A>T p.P47P 1 Nonrecurrent X Specific Non Disease gene918 Silent Substitution MAGEA5 c.156G>A p.E52E 4 Recurrent X Specific Non Disease gene919 Silent Substitution MAGEA5 c.207C>T p.S69S 2 Recurrent X Specific Non Disease gene920 Silent Substitution MAGEA8 c.918C>T p.S306S 1 Nonrecurrent X Specific Non Disease gene921 Silent Substitution MAGEA8 c.681A>G p.A227A 129 Recurrent X Specific Non Disease geneNature Genetics: doi:10.1038/ng.367




Score922 Silent Substitution MAGEA8 c.849A>G p.E283E 2 Recurrent X Specific Non Disease gene927 Silent Substitution MAGEB18 c.930G>A p.E310E 1 Nonrecurrent X Specific Non Disease gene928 Silent Substitution MAGEB18 c.690C>T p.A230A 20 Recurrent X Specific Non Disease gene932 Silent Substitution MAGEB2 c.820C>T p.L274L 1 Nonrecurrent X Specific Non Disease gene933 Silent Substitution MAGEB2 c.216G>A p.A72A 59 Recurrent X Specific Non Disease gene934 Silent Substitution MAGEB2 c.306C>T p.S102S 74 Recurrent X Specific Non Disease gene937 Silent Substitution MAGEB3 c.489A>G p.V163V 56 Recurrent X Specific Non Disease gene940 Silent Substitution MAGEB4 c.354G>A p.Q118Q 1 Nonrecurrent X Specific Non Disease gene941 Silent Substitution MAGEB4 c.906G>C p.L302L 49 Recurrent X Specific Non Disease gene942 Silent Substitution MAGEB4 c.750A>G p.V250V 49 Recurrent X Specific Non Disease gene949 Silent Substitution MAGEB6 c.219T>C p.P73P 1 Nonrecurrent X Specific Non Disease gene950 Silent Substitution MAGEB6 c.339C>G p.G113G 1 Nonrecurrent X Specific Non Disease gene951 Silent Substitution MAGEB6 c.138C>T p.R46R 1 Nonrecurrent X Specific Non Disease gene952 Silent Substitution MAGEB6 c.774C>T p.S258S 1 Nonrecurrent X Specific Non Disease gene953 Silent Substitution MAGEB6 c.342T>G p.S114S 9 Recurrent X Specific Non Disease gene954 Silent Substitution MAGEB6 c.288C>T p.T96T 17 Recurrent X Specific Non Disease gene960 Silent Substitution MAGEC1 c.267C>T p.G89G 1 Nonrecurrent X Specific Non Disease gene961 Silent Substitution MAGEC1 c.1629G>A p.L543L 1 Nonrecurrent X Specific Non Disease gene962 Silent Substitution MAGEC1 c.3174G>A p.E1058E 23 Recurrent X Specific Non Disease gene963 Ins/Del (in frame) MAGEC2 c.40_42delAAC p.N14_D15>D 1 Nonrecurrent X Specific Non Disease gene965 Silent Substitution MAGEC2 c.909G>A p.P303P 139 Recurrent X Specific Non Disease gene971 Silent Substitution MAGED1 c.2197C>T p.L733L 1 Nonrecurrent X Specific Non Disease gene972 Silent Substitution MAGED1 c.2227C>A p.R743R 34 Recurrent X Specific Non Disease gene973 Silent Substitution MAGED2 c.624C>T p.A208A 48 Recurrent X Specific Non Disease gene974 Silent Substitution MAGED2 c.396A>G p.T132T 68 Recurrent X Specific Non Disease gene975 Silent Substitution MAGED2 c.252A>G p.S84S 68 Recurrent X Specific Non Disease gene976 Silent Substitution MAGED2 c.1443G>A p.A481A 27 Recurrent X Specific Non Disease gene977 Silent Substitution MAGED2 c.981C>T p.S327S 68 Recurrent X Specific Non Disease gene980 Silent Substitution MAGEE1 c.2499T>C p.P833P 1 Nonrecurrent X Specific Non Disease gene981 Silent Substitution MAGEE1 c.228A>C p.P76P 1 Nonrecurrent X Specific Non Disease gene984 NonsenseSubstitution MAGEE2 c.358G>T p.E120* 9 Recurrent X Specific Non Disease gene987 Silent Substitution MAGEH1 c.492G>A p.G164G 45 Recurrent X Specific Non Disease gene988 Silent Substitution MAOA c.891G>T p.R297R 101 Recurrent X Specific XLMR gene989 Silent Substitution MAOA c.1410T>C p.D470D 64 Recurrent X Specific XLMR gene990 Silent Substitution MAOA c.385A>C p.R129R 10 Recurrent X Specific XLMR gene992 Silent Substitution MAOB c.402A>G p.P134P 2 Recurrent X Specific Non Disease gene996 NonsenseSubstitution MAP3K15 c.1069C>T p.R357* 1 Nonrecurrent X Specific Non Disease gene997 Silent Substitution MAP3K7IP3 c.90G>A p.Q30Q 1 Nonrecurrent X Specific Non Disease gene999 Silent Substitution MAP7D2 c.864A>G p.P288P 1 Nonrecurrent X Specific Non Disease gene1000 Silent Substitution MAP7D2 c.2127C>T p.D709D 1 Nonrecurrent X Specific Non Disease gene1001 Silent Substitution MAP7D2 c.1062G>T p.P354P 2 Recurrent X Specific Non Disease gene1009 Silent Substitution MAP7D3 c.468C>T p.I156I 1 Nonrecurrent X Specific Non Disease gene1010 Silent Substitution MAP7D3 c.1758G>A p.E586E 10 Recurrent X Specific Non Disease gene1011 Silent Substitution MAP7D3 c.387T>C p.F129F 2 Recurrent X Specific Non Disease gene1012 Silent Substitution MAP7D3 c.360G>A p.E120E 30 Recurrent X Specific Non Disease gene1013 Splice MAP7D3 c.2432+1G>C 1 Nonrecurrent X Specific Non Disease gene1018 Silent Substitution MCF2 c.2241C>T p.D747D 1 Nonrecurrent X Specific Non Disease gene1019 Silent Substitution MCF2 c.1962A>T p.G654G 112 Recurrent X Specific Non Disease gene1020 Silent Substitution MECP2 c.582C>T p.S194S 2 Recurrent X Specific XLMR gene1021 Silent Substitution MECP2 c.897C>T p.T299T 2 Recurrent X Specific XLMR gene1025 Silent Substitution MED12 c.3471A>C p.P1157P 54 Recurrent X Specific XLMR gene1026 Silent Substitution MED12 c.5076C>T p.N1692N 2 Recurrent X Specific XLMR gene1041 Silent Substitution CT45A5 c.291T>C p.N97N 136 Recurrent X Specific Non Disease gene1043 Silent Substitution MID1 c.1917C>T p.P639P 1 Nonrecurrent X Specific XLMR gene1044 Silent Substitution MID1 c.1230C>T p.S410S 3 Recurrent X Specific XLMR gene1047 Silent Substitution MID2 c.120A>C p.S40S 7 Recurrent X Specific Non Disease gene1052 Silent Substitution MPP1 c.822C>T p.V274V 1 Nonrecurrent X Specific Non Disease gene1053 Silent Substitution MPP1 c.546G>A p.A182A 1 Nonrecurrent X Specific Non Disease gene1054 Silent Substitution MPP1 c.255G>T p.T85T 147 Recurrent X Specific Non Disease gene1056 Silent Substitution MSL3L1 c.768G>A p.E256E 1 Nonrecurrent X Specific Non Disease gene1057 Silent Substitution MSN c.528T>C p.H176H 3 Recurrent X Specific Non Disease gene1059 Silent Substitution MTM1 c.1701C>T p.Y567Y 1 Nonrecurrent X Specific XLMR gene1060 Silent Substitution MTMR1 c.1902C>T p.G634G 109 Recurrent X Specific Non Disease gene1065 Silent Substitution MUM1L1 c.546G>A p.V182V 7 Recurrent X Specific Non Disease gene1066 Silent Substitution MUM1L1 c.579C>T p.C193C 2 Recurrent X Specific Non Disease gene1080 Silent Substitution MXRA5 c.3933G>A p.E1311E 1 Nonrecurrent X Specific Non Disease gene1081 Silent Substitution MXRA5 c.8310G>A p.P2770P 1 Nonrecurrent X Specific Non Disease gene1082 Silent Substitution MXRA5 c.2016G>A p.G672G 1 Nonrecurrent X Specific Non Disease gene1083 Silent Substitution MXRA5 c.8148G>A p.E2716E 7 Recurrent X Specific Non Disease gene1084 Silent Substitution MXRA5 c.1935C>T p.D645D 119 Recurrent X Specific Non Disease gene1085 Silent Substitution MXRA5 c.1638G>A p.E546E 2 Recurrent X Specific Non Disease gene1086 Silent Substitution MXRA5 c.2409A>G p.P803P 142 Recurrent X Specific Non Disease gene1087 Silent Substitution MXRA5 c.2442T>C p.S814S 120 Recurrent X Specific Non Disease gene1088 Silent Substitution MXRA5 c.5559A>C p.P1853P 83 Recurrent X Specific Non Disease gene1089 Silent Substitution MXRA5 c.5694G>A p.P1898P 11 Recurrent X Specific Non Disease gene1090 Ins/Del (in frame) NAP1L2 c.660_663delGAG p.E660_E661>D 1 Nonrecurrent X Specific Non Disease gene1091 Ins/Del (in frame) NAP1L3 c.190_195delAGCAGC p.S64_S65delSS 1 Nonrecurrent X Specific Non Disease gene1096 Silent Substitution NCBP2L c.522T>C p.Y174Y 1 Nonrecurrent X Specific Non Disease gene1097 Silent Substitution NCBP2L c.843G>T p.S281S 16 Recurrent X Specific Non Disease gene1098 Silent Substitution NCBP2L c.1209C>A p.V403V 19 Recurrent X Specific Non Disease gene1099 Silent Substitution NDUFA1 c.141G>C p.L47L 3 Recurrent X Specific XLMR gene1100 NonsenseSubstitution NDUFA1 c.901C>T p.Q301* 1 Nonrecurrent X Specific XLMR gene1106 Silent Substitution NHS c.765C>G p.P255P 1 Nonrecurrent X Specific XLMR gene1107 Silent Substitution NHS c.2418G>A p.Q806Q 1 Nonrecurrent X Specific XLMR gene1108 Silent Substitution NHS c.3141A>G p.L1047L 2 Recurrent X Specific XLMR gene1109 Silent Substitution NHS c.3138T>C p.S1046S 2 Recurrent X Specific XLMR gene1110 Silent Substitution NKRF c.156T>C p.H52H 2 Recurrent X Specific Non Disease geneNature Genetics: doi:10.1038/ng.367




Score1111 Silent Substitution NLGN3 c.747C>T p.S249S 1 Nonrecurrent X Specific XLMR gene1117 Silent Substitution NLGN4X c.933C>T p.T311T 41 Recurrent X Specific XLMR gene1118 Silent Substitution NLGN4X c.2356C>T p.L786L 1 Nonrecurrent X Specific XLMR gene1119 Silent Substitution NLGN4X c.2253A>G p.T751T 17 Recurrent X Specific XLMR gene1120 Silent Substitution NLGN4X c.1779C>G p.L593L 1 Nonrecurrent X Specific XLMR gene1121 Ins/Del (in frame) NOX1 c.555_557delCTT p.F185_L186>L 93 Recurrent X Specific Non Disease gene1123 Silent Substitution NR0B1 c.498G>A p.R166R 28 Recurrent X Specific Non Disease gene1124 Silent Substitution NR0B1 c.114C>T p.C38C 34 Recurrent X Specific Non Disease gene1131 Silent Substitution NRK c.4206A>G p.V1402V 1 Nonrecurrent X Specific Non Disease gene1133 Silent Substitution NSDHL c.132T>G p.G44G 48 Recurrent X Specific Disease gene1134 Silent Substitution NSDHL c.1054C>T p.L352L 2 Recurrent X Specific Disease gene1135 Ins/Del (out of frame) NSDHL c.1098_1099insT p.R367fs*>8 1 Nonrecurrent X Specific Disease gene1138 Silent Substitution NUP62CL c.477T>C p.R159R 8 Recurrent X Specific Non Disease gene1139 Silent Substitution NUP62CL c.426A>G p.S142S 3 Recurrent X Specific Non Disease gene1140 Silent Substitution NXF3 c.318G>A p.P106P 1 Nonrecurrent X Specific Non Disease gene1141 Silent Substitution NXF3 c.150T>C p.D50D 1 Nonrecurrent X Specific Non Disease gene1143 Silent Substitution NXF5 c.1191A>G p.S397S 27 Recurrent X Specific XLMR gene1149 Silent Substitution ODZ1 c.5355G>A p.S1785S 1 Nonrecurrent X Specific Non Disease gene1150 Silent Substitution ODZ1 c.5982T>C p.Y1994Y 1 Nonrecurrent X Specific Non Disease gene1151 Silent Substitution ODZ1 c.1122C>T p.D374D 1 Nonrecurrent X Specific Non Disease gene1152 Silent Substitution ODZ1 c.6492T>G p.V2164V 1 Nonrecurrent X Specific Non Disease gene1153 Silent Substitution ODZ1 c.5544A>G p.S1848S 21 Recurrent X Specific Non Disease gene1154 Silent Substitution ODZ1 c.4992C>A p.T1664T 71 Recurrent X Specific Non Disease gene1155 Silent Substitution ODZ1 c.4482A>G p.A1494A 29 Recurrent X Specific Non Disease gene1156 Silent Substitution ODZ1 c.39A>G p.P13P 3 Recurrent X Specific Non Disease gene1157 Silent Substitution ODZ1 c.3192G>T p.V1064V 2 Recurrent X Specific Non Disease gene1159 Silent Substitution OFD1 c.714T>C p.Y238Y 1 Nonrecurrent X Specific XLMR gene1161 Silent Substitution OGT c.1470T>C p.N490N 1 Nonrecurrent X Specific Non Disease gene1162 Silent Substitution OGT c.1743T>C p.Y581Y 1 Nonrecurrent X Specific Non Disease gene1163 Silent Substitution OGT c.2811A>G p.P937P 1 Nonrecurrent X Specific Non Disease gene1171 Silent Substitution OTC c.387T>A p.R129R 1 Nonrecurrent X Specific XLMR gene1177 Silent Substitution P2RY4 c.726C>A p.R242R 11 Recurrent X Specific Non Disease gene1178 NonsenseSubstitution P2RY4 c.1043G>A p.W348* 1 Nonrecurrent X Specific Non Disease gene1179 Silent Substitution P2RY8 c.54G>A p.R18R 1 Nonrecurrent PAR Non Disease gene1180 Silent Substitution P2RY8 c.141G>C p.V47V 1 Nonrecurrent PAR Non Disease gene1182 Silent Substitution PAGE1 c.168G>A p.G56G 2 Recurrent X Specific Non Disease gene1183 Silent Substitution PAGE1 c.87C>T p.D29D 7 Recurrent X Specific Non Disease gene1185 Silent Substitution PAGE3 c.255A>C p.G85G 50 Recurrent X Specific Non Disease gene1186 Ins/Del (in frame) PASD1 delAGCGGCAGCTGCGGGAGCAGC p.Q 1 Nonrecurrent X Specific Non Disease gene1187 Ins/Del (in frame) PASD1 5delATGGACCAGCAGGACCCA p.M320 1 Nonrecurrent X Specific Non Disease gene1191 Silent Substitution PASD1 c.513A>C p.G171G 1 Nonrecurrent X Specific Non Disease gene1192 Silent Substitution PASD1 c.606G>A p.E202E 4 Recurrent X Specific Non Disease gene1193 Silent Substitution PASD1 c.513A>G p.G171G 37 Recurrent X Specific Non Disease gene1194 Silent Substitution PASD1 c.522C>T p.C174C 38 Recurrent X Specific Non Disease gene1195 Silent Substitution PASD1 c.915G>A p.E305E 3 Recurrent X Specific Non Disease gene1196 Silent Substitution PASD1 c.1371T>C p.G457G 28 Recurrent X Specific Non Disease gene1200 Silent Substitution PCDH19 c.186G>A p.P62P 1 Nonrecurrent X Specific Non Disease gene1201 Silent Substitution PCDH19 c.1377C>T p.D459D 1 Nonrecurrent X Specific Non Disease gene1202 Silent Substitution PCDH19 c.130C>T p.L44L 41 Recurrent X Specific Non Disease gene1203 Silent Substitution PCTK1 c.636G>A p.V212V 1 Nonrecurrent X Specific Non Disease gene1204 Silent Substitution PCYT1B c.609G>A p.S203S 1 Nonrecurrent X Specific Non Disease gene1205 Silent Substitution PCYT1B c.126T>G p.T42T 1 Nonrecurrent X Specific Non Disease gene1207 Silent Substitution PDHA1 c.795A>G p.A265A 6 Recurrent X Specific XLMR gene1209 Silent Substitution PDK3 c.336G>C p.L112L 1 Nonrecurrent X Specific Non Disease gene1222 Silent Substitution PHF8 c.1140C>T p.R380R 1 Nonrecurrent X Specific XLMR gene1223 Silent Substitution PHF8 c.441T>G p.V147V 4 Recurrent X Specific XLMR gene1224 Silent Substitution PHKA1 c.429C>T p.L143L 3 Recurrent X Specific Disease gene1229 Silent Substitution PHKA2 c.2532G>A p.L844L 1 Nonrecurrent X Specific Disease gene1230 Silent Substitution PHKA2 c.3132G>A p.S1044S 1 Nonrecurrent X Specific Disease gene1231 Silent Substitution PHKA2 c.2157G>A p.P719P 1 Nonrecurrent X Specific Disease gene1232 Silent Substitution PHKA2 c.742A>C p.R248R 1 Nonrecurrent X Specific Disease gene1233 Silent Substitution PHKA2 c.2436G>A p.G812G 2 Recurrent X Specific Disease gene1235 Silent Substitution PIM2 c.870C>T p.A290A 2 Recurrent X Specific Non Disease gene1238 Silent Substitution PIN4 c.279C>T p.A93A 4 Recurrent X Specific Non Disease gene1239 Silent Substitution PIN4 c.444T>C p.H148H 3 Recurrent X Specific Non Disease gene1240 Silent Substitution PIR c.681G>A p.Q227Q 18 Recurrent X Specific Non Disease gene1243 Silent Substitution PJA1 c.246C>T p.S82S 38 Recurrent X Specific Non Disease gene1245 Silent Substitution PJA1 c.606C>T p.G202G 10 Recurrent X Specific Non Disease gene1253 Silent Substitution PLCXD1 c.684C>G p.T228T 1 Nonrecurrent PAR Non Disease gene1254 Silent Substitution PLCXD1 c.837G>T p.R279R 1 Nonrecurrent PAR Non Disease gene1255 Silent Substitution PLCXD1 c.798C>T p.S266S 1 Nonrecurrent PAR Non Disease gene1256 Silent Substitution PLCXD1 c.312C>T p.D104D 57 Recurrent PAR Non Disease gene1257 Silent Substitution PLP1 c.459G>A p.V153V 1 Nonrecurrent X Specific XLMR gene1258 Silent Substitution PLP1 c.609T>C p.D203D 61 Recurrent X Specific XLMR gene1259 Missense Substitution PLP2 c.16C>T p.R6C 2 Recurrent X Specific Non Disease gene1260 Silent Substitution PLS3 c.321T>A p.G107G 1 Nonrecurrent X Specific Non Disease gene1261 Silent Substitution PLS3 c.1476C>G p.T492T 1 Nonrecurrent X Specific Non Disease gene1262 Silent Substitution PLS3 c.1545T>C p.D515D 1 Nonrecurrent X Specific Non Disease gene1263 Silent Substitution PLS3 c.1294T>C p.L432L 7 Recurrent X Specific Non Disease gene1264 Silent Substitution PLS3 c.1242T>C p.P414P 7 Recurrent X Specific Non Disease gene1269 Silent Substitution PLXNA3 c.4077C>T p.R1359R 1 Nonrecurrent X Specific Non Disease gene1270 Silent Substitution PLXNA3 c.2901A>G p.T967T 1 Nonrecurrent X Specific Non Disease gene1271 Silent Substitution PLXNA3 c.3723G>C p.A1241A 19 Recurrent X Specific Non Disease gene1272 Silent Substitution PLXNA3 c.2289C>T p.F763F 10 Recurrent X Specific Non Disease gene1273 Silent Substitution PLXNA3 c.3462G>T p.A1154A 2 Recurrent X Specific Non Disease gene1274 Silent Substitution PLXNA3 c.1167G>A p.L389L 2 Recurrent X Specific Non Disease gene1275 Silent Substitution PLXNA3 c.933G>A p.P311P 2 Recurrent X Specific Non Disease geneNature Genetics: doi:10.1038/ng.367




Score1276 Silent Substitution PLXNB3 c.4113G>A p.T1371T 1 Nonrecurrent X Specific Non Disease gene1277 Silent Substitution PLXNB3 c.1776T>C p.P592P 1 Nonrecurrent X Specific Non Disease gene1278 Silent Substitution PLXNB3 c.2208G>A p.E736E 1 Nonrecurrent X Specific Non Disease gene1279 Silent Substitution PLXNB3 c.1209C>T p.L403L 2 Recurrent X Specific Non Disease gene1281 Silent Substitution PNMA3 c.777G>A p.E259E 1 Nonrecurrent X Specific Non Disease gene1283 Silent Substitution PNMA5 c.1164A>G p.P388P 13 Recurrent X Specific Non Disease gene1287 Silent Substitution PNPLA4 c.243A>G p.V81V 1 Nonrecurrent X Specific Non Disease gene1294 Silent Substitution POLA1 c.813G>A p.K271K 1 Nonrecurrent X Specific Non Disease gene1295 Silent Substitution POLA1 c.4338C>T p.Y1446Y 4 Recurrent X Specific Non Disease gene1296 Silent Substitution POLA1 c.3699C>A p.V1233V 13 Recurrent X Specific Non Disease gene1298 Silent Substitution POU3F4 c.471C>T p.A157A 1 Nonrecurrent X Specific Disease gene1303 Silent Substitution PPP1R3F c.2313C>T p.A771A 1 Nonrecurrent X Specific Non Disease gene1304 Silent Substitution PPP1R3F c.2136C>T p.A712A 1 Nonrecurrent X Specific Non Disease gene1308 Silent Substitution PPP2R3B c.525C>T p.P175P 1 Nonrecurrent PAR Non Disease gene1309 Silent Substitution PPP2R3B c.1698A>G p.A566A 12 Recurrent PAR Non Disease gene1310 Silent Substitution PPP2R3B c.393C>T p.P131P 13 Recurrent PAR Non Disease gene1311 Silent Substitution PPP2R3B c.489T>C p.D163D 42 Recurrent PAR Non Disease gene1312 Silent Substitution PPP2R3B c.1392T>C p.A464A 4 Recurrent PAR Non Disease gene1313 Ins/Del (in frame) PQBP1 elAGGGGCCATGACAAGTCGGAC p.G1 1 Nonrecurrent X Specific XLMR gene1315 Silent Substitution PRDX4 c.579G>A p.E193E 1 Nonrecurrent X Specific Non Disease gene1317 Silent Substitution PRPS1 c.477C>T p.I159I 1 Nonrecurrent X Specific XLMR gene1318 Silent Substitution PRPS1 c.942C>T p.S314S 1 Nonrecurrent X Specific XLMR gene1319 Silent Substitution PRPS2 c.45G>A p.L15L 39 Recurrent X Specific Non Disease gene1322 Silent Substitution PRRG1 c.369T>G p.P123P 2 Recurrent X Specific Non Disease gene1325 Silent Substitution PRRG3 c.318G>A p.Q106Q 1 Nonrecurrent X Specific Non Disease gene1328 Silent Substitution PTCHD1 c.234G>C p.G78G 1 Nonrecurrent X Specific Non Disease gene1329 Silent Substitution PTCHD1 c.543T>C p.C181C 96 Recurrent X Specific Non Disease gene1330 Silent Substitution Q0VGB3_HUMAN c.297G>A p.R99R 1 Nonrecurrent X Specific Non Disease gene1332 Silent Substitution RAB33A c.282T>G p.G94G 2 Recurrent X Specific Non Disease gene1333 Silent Substitution RAB39B c.543A>G p.T181T 1 Nonrecurrent X Specific Non Disease gene1339 Silent Substitution RAB40AL c.282C>T p.Y94Y 1 Nonrecurrent X Specific Non Disease gene1340 Silent Substitution RAB40AL c.15C>T p.G5G 1 Nonrecurrent X Specific Non Disease gene1341 Silent Substitution RAB40AL c.84T>C p.S28S 1 Nonrecurrent X Specific Non Disease gene1342 Silent Substitution RAB40AL c.55C>T p.L19L 2 Recurrent X Specific Non Disease gene1343 Silent Substitution RAB41 c.564G>C p.V188V 1 Nonrecurrent X Specific Non Disease gene1344 Silent Substitution RAB41 c.639C>T p.F213F 1 Nonrecurrent X Specific Non Disease gene1345 Silent Substitution RAB9B c.327G>A p.A109A 1 Nonrecurrent X Specific Non Disease gene1346 Silent Substitution RAI2 c.1170G>A p.T390T 1 Nonrecurrent X Specific Non Disease gene1347 Silent Substitution RAI2 c.1002C>A p.P334P 5 Recurrent X Specific Non Disease gene1349 Silent Substitution RBM10 c.1536C>T p.A512A 1 Nonrecurrent X Specific Non Disease gene1350 Silent Substitution RBM10 c.2484C>T p.P828P 1 Nonrecurrent X Specific Non Disease gene1351 Silent Substitution RBM41 c.999G>A p.Q333Q 1 Nonrecurrent X Specific Non Disease gene1357 Silent Substitution REPS2 c.1440T>C p.N480N 2 Recurrent X Specific Non Disease gene1358 Ins/Del (in frame) RGAG1 c.3943_3945delAAG p.K1315_D1316>D 1 Nonrecurrent X Specific Non Disease gene1361 Silent Substitution RGAG1 c.1392C>T p.S464S 1 Nonrecurrent X Specific Non Disease gene1362 Silent Substitution RGAG1 c.3420C>T p.S1140S 1 Nonrecurrent X Specific Non Disease gene1363 Silent Substitution RGAG1 c.3921C>T p.T1307T 1 Nonrecurrent X Specific Non Disease gene1364 Silent Substitution RGAG1 c.840T>A p.G280G 91 Recurrent X Specific Non Disease gene1367 Silent Substitution RGAG4 c.1836A>G p.G612G 152 Recurrent X Specific Non Disease gene1368 Silent Substitution RGAG4 c.1857C>T p.R619R 151 Recurrent X Specific Non Disease gene1370 Silent Substitution RHGXX_HUMAN c.378C>T p.T126T 1 Nonrecurrent X Specific Non Disease gene1371 Silent Substitution RHGXX_HUMAN c.516G>A p.E172E 2 Recurrent X Specific Non Disease gene1374 Silent Substitution RNF12 c.1395G>A p.S465S 3 Recurrent X Specific Non Disease gene1380 Silent Substitution RP11-262D11 c.1812C>T p.D604D 1 Nonrecurrent X Specific Non Disease gene1385 Silent Substitution RP11-30A20 c.1011C>T p.N337N 96 Recurrent X Specific Non Disease gene1389 Silent Substitution #N/A c.1887C>T p.D629D 1 Nonrecurrent X Specific Non Disease gene1393 Silent Substitution MAGEB10 c.558A>C p.L186L 5 Recurrent X Specific Non Disease gene1395 Silent Substitution #N/A c.549C>G p.L183L 61 Recurrent X Specific Non Disease gene1396 Silent Substitution #N/A c.420A>G p.V140V 86 Recurrent X Specific Non Disease gene1398 Silent Substitution RP1-19N1 c.276C>T p.S92S 1 Nonrecurrent X Specific Non Disease gene1399 Silent Substitution KLHL13 c.555G>A p.V185V 8 Recurrent X Specific Non Disease gene1400 Silent Substitution KLHL13 c.1866G>C p.L622L 12 Recurrent X Specific Non Disease gene1401 Silent Substitution SPANXN1 c.174A>G p.K58K 2 Recurrent X Specific Non Disease gene1404 Silent Substitution CXorf64 c.807G>A p.P269P 66 Recurrent X Specific Non Disease gene1405 Silent Substitution CXorf64 c.132C>T p.D44D 11 Recurrent X Specific Non Disease gene1406 Silent Substitution CXorf64 c.279C>T p.Y93Y 5 Recurrent X Specific Non Disease gene1414 Silent Substitution RP13-347D8 c.2616G>A p.P872P 1 Nonrecurrent X Specific Non Disease gene1415 Silent Substitution RP13-347D8 c.2646G>A p.S882S 1 Nonrecurrent X Specific Non Disease gene1416 Silent Substitution RP13-347D8 c.1218C>T p.V406V 3 Recurrent X Specific Non Disease gene1417 Silent Substitution RP13-347D8 c.3945T>C p.S1315S 15 Recurrent X Specific Non Disease gene1420 Silent Substitution MOSPD2 c.96T>C p.Y32Y 1 Nonrecurrent X Specific Non Disease gene1421 Silent Substitution MOSPD2 c.654C>T p.V218V 2 Recurrent X Specific Non Disease gene1423 Ins/Del (in frame) NKAP c.603_605delATC p.S202_K203>K 9 Recurrent X Specific Non Disease gene1425 Silent Substitution RP3-527F8 c.96C>T p.S32S 1 Nonrecurrent X Specific Non Disease gene1426 Silent Substitution ARMCX6 c.18T>C p.N6N 3 Recurrent X Specific Non Disease gene1427 Silent Substitution RP4-765F13 c.144C>T p.P48P 1 Nonrecurrent X Specific Non Disease gene1428 Silent Substitution RP4-765F13 c.15G>A p.L5L 1 Nonrecurrent X Specific Non Disease gene1429 Silent Substitution CXorf65 c.417G>A p.A139A 55 Recurrent X Specific Non Disease gene1432 Silent Substitution RPA4 c.420T>A p.L140L 1 Nonrecurrent X Specific Non Disease gene1433 Silent Substitution RPA4 c.150T>C p.N50N 47 Recurrent X Specific Non Disease gene1434 Ins/Del (in frame) RPGR c.1579_1581delCAA p.Q527_T528>T 2 Recurrent X Specific Disease gene1440 Silent Substitution RPGR c.732G>A p.K244K 1 Nonrecurrent X Specific Disease gene1441 Silent Substitution RPGR c.1164G>A p.A388A 28 Recurrent X Specific Disease gene1443 Silent Substitution RPL36A c.141C>T p.G47G 1 Nonrecurrent X Specific Non Disease gene1444 Silent Substitution RPL39 c.126A>G p.R42R 3 Recurrent X Specific Non Disease gene1445 Ins/Del (out of frame) RPL9P7 c.75delT p.I26fs*2 1 Nonrecurrent X Specific Non Disease gene1447 Silent Substitution RPS4X c.492G>A p.L164L 116 Recurrent X Specific Non Disease geneNature Genetics: doi:10.1038/ng.367




Score1450 Silent Substitution RPS6KA3 c.213A>G p.L71L 1 Nonrecurrent X Specific XLMR gene1453 Silent Substitution RPS6KA6 c.537C>T p.L179L 1 Nonrecurrent X Specific Non Disease gene1454 Silent Substitution RS1 c.330T>C p.C110C 1 Nonrecurrent X Specific Disease gene1461 Silent Substitution SAGE1 c.1200T>C p.D400D 1 Nonrecurrent X Specific Non Disease gene1462 Silent Substitution SAGE1 c.2646C>T p.L882L 1 Nonrecurrent X Specific Non Disease gene1463 Silent Substitution SAGE1 c.1059A>T p.V353V 1 Nonrecurrent X Specific Non Disease gene1464 Silent Substitution SAGE1 c.24G>A p.T8T 43 Recurrent X Specific Non Disease gene1465 Silent Substitution SAGE1 c.285T>C p.N95N 53 Recurrent X Specific Non Disease gene1466 Silent Substitution SAGE1 c.1497A>G p.Q499Q 54 Recurrent X Specific Non Disease gene1467 Silent Substitution SAGE1 c.2463G>A p.K821K 41 Recurrent X Specific Non Disease gene1468 NonsenseSubstitution SAGE1 c.621T>A p.C207* 1 Nonrecurrent X Specific Non Disease gene1474 Silent Substitution SATL1 c.1755C>T p.N585N 3 Recurrent X Specific Non Disease gene1475 Silent Substitution SATL1 c.387G>C p.T129T 2 Recurrent X Specific Non Disease gene1476 NonsenseSubstitution SATL1 c.1325G>A p.W442* 1 Nonrecurrent X Specific Non Disease gene1477 Silent Substitution SCML2 c.342C>T p.D114D 30 Recurrent X Specific Non Disease gene1479 Silent Substitution SEPT6 c.1155G>A p.K385K 11 Recurrent X Specific Non Disease gene1482 Silent Substitution SERPINA7 c.207C>A p.S69S 1 Nonrecurrent X Specific Disease gene1484 Silent Substitution SH3KBP1 c.1266G>A p.P422P 1 Nonrecurrent X Specific Non Disease gene1485 Silent Substitution SH3KBP1 c.1029A>C p.P343P 2 Recurrent X Specific Non Disease gene1496 Silent Substitution SHROOM2 c.3756A>G p.T1252T 1 Nonrecurrent X Specific Non Disease gene1497 Silent Substitution SHROOM2 c.3774G>C p.S1258S 1 Nonrecurrent X Specific Non Disease gene1498 Silent Substitution SHROOM2 c.783G>A p.S261S 1 Nonrecurrent X Specific Non Disease gene1499 Silent Substitution SHROOM2 c.483G>A p.E161E 1 Nonrecurrent X Specific Non Disease gene1500 Silent Substitution SHROOM2 c.2946G>A p.P982P 1 Nonrecurrent X Specific Non Disease gene1501 Ins/Del (in frame) SHROOM4 3_3384insACAGCAGCAGCA p.Q1128>Q 3 Recurrent X Specific XLMR gene1508 Silent Substitution SHROOM4 c.294G>A p.P98P 1 Nonrecurrent X Specific XLMR gene1509 Silent Substitution SHROOM4 c.450C>T p.T150T 1 Nonrecurrent X Specific XLMR gene1510 Silent Substitution SHROOM4 c.3168T>C p.R1056R 1 Nonrecurrent X Specific XLMR gene1511 Silent Substitution SHROOM4 c.3468A>G p.E1156E 51 Recurrent X Specific XLMR gene1512 Silent Substitution SIAH1L c.765C>T p.D255D 1 Nonrecurrent X Specific Non Disease gene1515 Silent Substitution SLC16A2 c.669C>T p.L223L 1 Nonrecurrent X Specific XLMR gene1518 Silent Substitution SLC25A43 c.57T>C p.A19A 8 Recurrent X Specific Non Disease gene1520 Silent Substitution SLC25A5 c.699T>C p.T233T 96 Recurrent X Specific Non Disease gene1521 Silent Substitution SLC25A6 c.762C>T p.T254T 1 Nonrecurrent PAR Non Disease gene1522 Silent Substitution SLC25A6 c.306C>T p.G102G 1 Nonrecurrent PAR Non Disease gene1523 Silent Substitution SLC25A6 c.408C>T p.F136F 11 Recurrent PAR Non Disease gene1524 Silent Substitution SLC25A6 c.429G>A p.A143A 2 Recurrent PAR Non Disease gene1529 Silent Substitution SLC6A14 c.1332G>A p.K444K 1 Nonrecurrent X Specific Non Disease gene1530 Silent Substitution SLC6A14 c.120C>T p.S40S 1 Nonrecurrent X Specific Non Disease gene1531 Silent Substitution SLC6A14 c.84T>A p.G28G 2 Recurrent X Specific Non Disease gene1532 Silent Substitution SLC6A14 c.1593A>C p.V531V 5 Recurrent X Specific Non Disease gene1537 Silent Substitution SLC6A8 c.405C>T p.Y135Y 21 Recurrent X Specific XLMR gene1538 Silent Substitution SLC6A8 c.597C>T p.T199T 19 Recurrent X Specific XLMR gene1545 Silent Substitution SLC7A3 c.744C>T p.F248F 1 Nonrecurrent X Specific Non Disease gene1546 Silent Substitution SLC7A3 c.1599T>C p.S533S 124 Recurrent X Specific Non Disease gene1547 Silent Substitution SLC7A3 c.855G>A p.P285P 9 Recurrent X Specific Non Disease gene1548 Silent Substitution SLC7A3 c.1032T>C p.A344A 7 Recurrent X Specific Non Disease gene1550 Silent Substitution SLC9A6 c.1089A>C p.A363A 1 Nonrecurrent X Specific XLMR gene1551 Silent Substitution SLC9A6 c.1659C>T p.S553S 9 Recurrent X Specific XLMR gene1552 Ins/Del (out of frame) SLC9A6 c.511_512delAT p.H171fs*59 1 Nonrecurrent X Specific XLMR gene1553 NonsenseSubstitution SLC9A6 c.1402C>T p.R468* 1 Nonrecurrent X Specific XLMR gene1554 Splice SLC9A6 c.507+1delGTAA 1 Nonrecurrent X Specific XLMR gene1557 Silent Substitution SLC9A7 c.1740C>T p.D580D 1 Nonrecurrent X Specific Non Disease gene1558 Silent Substitution SLC9A7 c.1824C>T p.Y608Y 93 Recurrent X Specific Non Disease gene1560 Silent Substitution SLITRK2 c.1495C>T p.L499L 1 Nonrecurrent X Specific Non Disease gene1561 Silent Substitution SLITRK2 c.987G>A p.V329V 1 Nonrecurrent X Specific Non Disease gene1562 Silent Substitution SLITRK2 c.939T>C p.P313P 147 Recurrent X Specific Non Disease gene1563 Silent Substitution SLITRK2 c.1873T>C p.L625L 3 Recurrent X Specific Non Disease gene1566 Silent Substitution SMARCA1 c.1608C>T p.T536T 1 Nonrecurrent X Specific Non Disease gene1567 Silent Substitution SMARCA1 c.1269A>G p.Q423Q 3 Recurrent X Specific Non Disease gene1568 Silent Substitution SMC1A c.3438C>T p.S1146S 1 Nonrecurrent X Specific XLMR gene1570 Silent Substitution SMS c.1026A>C p.S342S 3 Recurrent X Specific XLMR gene1572 Silent Substitution SOX3 c.609T>C p.Y203Y 7 Recurrent X Specific XLMR gene1573 Ins/Del (in frame) SPANXN4 c.87_89delGAA p.K29_N30>N 3 Recurrent X Specific Non Disease gene1574 Silent Substitution SPANXN4 c.87G>A p.K29K 1 Nonrecurrent X Specific Non Disease gene1577 Ins/Del (in frame) SRPX c.68_70delTGC p.L23_R24 1 Nonrecurrent X Specific Non Disease gene1585 Silent Substitution SSX5 c.522G>A p.Q174Q 10 Recurrent X Specific Non Disease gene1588 NonsenseSubstitution SSX6 c.111G>A: p.W37* 1 Nonrecurrent X Specific Non Disease gene1592 Silent Substitution STARD8 c.2248A>C p.R750R 1 Nonrecurrent X Specific Non Disease gene1593 Silent Substitution STARD8 c.279C>T p.P93P 12 Recurrent X Specific Non Disease gene1594 Silent Substitution SEPT6 c.1851A>C p.G617G 78 Recurrent X Specific Non Disease gene1595 Silent Substitution SUV39H1 c.780C>T p.T260T 1 Nonrecurrent X Specific Non Disease gene1596 Silent Substitution SYAP1 c.717G>A p.P239P 1 Nonrecurrent X Specific Non Disease gene1598 Silent Substitution SYN1 c.1422C>T p.P474P 1 Nonrecurrent X Specific XLMR gene1599 Silent Substitution SYN1 c.1107C>T p.I369I 1 Nonrecurrent X Specific XLMR gene1600 Silent Substitution SYN1 c.426A>G p.K142K 1 Nonrecurrent X Specific XLMR gene1601 Silent Substitution SYN1 c.510T>C p.N170N 68 Recurrent X Specific XLMR gene1602 Ins/Del (out of frame) SYP c.274_275insA p.T92fs*4 1 Nonrecurrent X Specific Non Disease gene1605 Silent Substitution SYTL4 c.507A>G p.R169R 3 Recurrent X Specific Non Disease gene1610 Silent Substitution SYTL5 c.489A>G p.A163A 49 Recurrent X Specific Non Disease gene1611 Silent Substitution SYTL5 c.579G>A p.S193S 3 Recurrent X Specific Non Disease gene1612 Silent Substitution SYTL5 c.1350T>C p.Y450Y 52 Recurrent X Specific Non Disease gene1613 Silent Substitution SYTL5 c.978G>A p.E326E 1 Nonrecurrent X Specific Non Disease gene1614 NonsenseSubstitution SYTL5 c.1633G>T p.G545* 1 Nonrecurrent X Specific Non Disease gene1615 Ins/Del (in frame) TAF1 c.832_833insAGG p.V278> 1 Nonrecurrent X Specific Disease gene1621 Silent Substitution TAF1 c.4705C>T p.L1569L 1 Nonrecurrent X Specific Disease gene1622 Silent Substitution TAF1 c.528T>C p.T176T 1 Nonrecurrent X Specific Disease geneNature Genetics: doi:10.1038/ng.367




Score1623 Ins/Del (in frame) TAF7L c.1062_1069delAAAGAA p.K354_E356>E 11 Recurrent X Specific Non Disease gene1627 Silent Substitution TAF7L c.1047G>A p.E349E 1 Nonrecurrent X Specific Non Disease gene1631 Silent Substitution TBC1D8B c.3051T>C p.A1017A 1 Nonrecurrent X Specific Non Disease gene1633 Silent Substitution TBX22 c.72C>T p.L24L 1 Nonrecurrent X Specific Disease gene1635 Silent Substitution TCEAL2 c.609T>C p.Y203Y 15 Recurrent X Specific Non Disease gene1636 Silent Substitution TCEAL2 c.615G>A p.R205R 17 Recurrent X Specific Non Disease gene1638 Silent Substitution TCEAL4 c.867T>C p.H289H 70 Recurrent X Specific Non Disease gene1646 Silent Substitution TEX11 c.405C>T p.A135A 1 Nonrecurrent X Specific Non Disease gene1647 Silent Substitution TEX11 c.2496T>C p.D832D 9 Recurrent X Specific Non Disease gene1652 Silent Substitution TEX13B c.519C>T p.A173A 1 Nonrecurrent X Specific Non Disease gene1654 Silent Substitution TFDP3 c.261C>T p.H87H 1 Nonrecurrent X Specific Non Disease gene1656 Silent Substitution TFE3 c.1323A>G p.V441V 64 Recurrent X Specific Non Disease gene1658 Silent Substitution THOC2 c.1398A>G p.T466T 1 Nonrecurrent X Specific Non Disease gene1659 Silent Substitution TIMM17B c.228T>C p.I76I 77 Recurrent X Specific Non Disease gene1661 Silent Substitution TIMP1 c.474C>T p.I158I 1 Nonrecurrent X Specific Non Disease gene1662 Silent Substitution TIMP1 c.372T>C p.F124F 62 Recurrent X Specific Non Disease gene1663 Silent Substitution TIMP1 c.261C>T p.P87P 2 Recurrent X Specific Non Disease gene1666 Silent Substitution TLR7 c.2403G>A p.T801T 15 Recurrent X Specific Non Disease gene1667 Silent Substitution TLR7 c.1035G>A p.L345L 3 Recurrent X Specific Non Disease gene1670 Silent Substitution TLR8 c.2301A>G p.K767K 1 Nonrecurrent X Specific Non Disease gene1671 Silent Substitution TLR8 c.129C>T p.C43C 1 Nonrecurrent X Specific Non Disease gene1672 Silent Substitution TLR8 c.2307C>A p.I769I 59 Recurrent X Specific Non Disease gene1673 Silent Substitution TLR8 c.408C>T p.D136D 31 Recurrent X Specific Non Disease gene1674 Silent Substitution TLR8 c.2007G>C p.L669L 66 Recurrent X Specific Non Disease gene1675 Silent Substitution TLR8 c.699C>T p.H233H 67 Recurrent X Specific Non Disease gene1679 Silent Substitution TMEM187 c.735G>A p.T245T 19 Recurrent X Specific Non Disease gene1680 Silent Substitution TMEM187 c.441C>T p.C147C 29 Recurrent X Specific Non Disease gene1681 Ins/Del (out of frame) TMEM187 c.782delG p.R261fs*1 1 Nonrecurrent X Specific Non Disease gene1683 Silent Substitution TMEM28 c.1329C>T p.T443T 1 Nonrecurrent X Specific Non Disease gene1684 Silent Substitution TMLHE c.573C>T p.F191F 1 Nonrecurrent X Specific Non Disease gene1686 Silent Substitution TNMD c.306G>A p.V102V 58 Recurrent X Specific Non Disease gene1688 Silent Substitution TRO c.315G>A p.Q105Q 1 Nonrecurrent X Specific Non Disease gene1689 Silent Substitution TRO c.1086A>G p.Q362Q 1 Nonrecurrent X Specific Non Disease gene1690 Silent Substitution TRO c.225T>C p.P75P 4 Recurrent X Specific Non Disease gene1693 Silent Substitution TRPC5 c.39G>A p.P13P 3 Recurrent X Specific Non Disease gene1694 Silent Substitution TRPC5 c.1809C>G p.T603T 7 Recurrent X Specific Non Disease gene1697 Silent Substitution TSPAN6 c.186C>T p.F62F 1 Nonrecurrent X Specific Non Disease gene1698 Silent Substitution TSPYL2 c.2043C>T p.N681N 1 Nonrecurrent X Specific Non Disease gene1700 Silent Substitution UBE1 c.1242C>T p.S414S 1 Nonrecurrent X Specific Non Disease gene1701 Silent Substitution UBE1 c.1296C>T p.L432L 2 Recurrent X Specific Non Disease gene1704 Silent Substitution UBE2NL c.420A>G p.T140T 1 Nonrecurrent X Specific Non Disease gene1705 NonsenseSubstitution UBE2NL c.266T>G p.L89* 117 Recurrent X Specific Non Disease gene1706 Silent Substitution UBQLN2 c.1383G>A p.G461G 1 Nonrecurrent X Specific Non Disease gene1707 Silent Substitution UBQLN2 c.1461C>A p.T487T 2 Recurrent X Specific Non Disease gene1711 Silent Substitution UCHL5IP c.651T>C p.R217R 2 Recurrent X Specific Non Disease gene1712 Silent Substitution UPF3B c.879A>G p.K293K 1 Nonrecurrent X Specific XLMR gene1713 Ins/Del (out of frame) UPF3B c.674_677delGAAA p.R225fs*22 1 Nonrecurrent X Specific XLMR gene1714 Ins/Del (out of frame) UPF3B c.867_868delAG p.G290fs*2 1 Nonrecurrent X Specific XLMR gene1715 NonsenseSubstitution UPF3B c.1288C>T p.R430* 1 Nonrecurrent X Specific XLMR gene1718 Silent Substitution UPRT c.381T>G p.R127R 140 Recurrent X Specific Non Disease gene1720 Silent Substitution USP11 c.1515G>A p.P505P 1 Nonrecurrent X Specific Non Disease gene1721 Silent Substitution USP11 c.2562C>T p.F854F 1 Nonrecurrent X Specific Non Disease gene1722 Silent Substitution USP11 c.2310C>T p.V770V 1 Nonrecurrent X Specific Non Disease gene1723 Silent Substitution USP11 c.2727C>A p.V909V 2 Recurrent X Specific Non Disease gene1724 Ins/Del (in frame) USP26 c.369_370insACA p.Q124>TQ 2 Recurrent X Specific Disease gene1731 Silent Substitution USP26 c.576G>A p.E192E 72 Recurrent X Specific Disease gene1732 Silent Substitution USP26 c.2088A>G p.P696P 2 Recurrent X Specific Disease gene1734 Silent Substitution USP9X c.5715T>C p.D1905D 1 Nonrecurrent X Specific Non Disease gene1735 Silent Substitution USP9X c.3609C>T p.S1203S 1 Nonrecurrent X Specific Non Disease gene1736 Silent Substitution USP9X c.4791G>A p.K1597K 1 Nonrecurrent X Specific Non Disease gene1737 Silent Substitution USP9X c.1983T>A p.G661G 4 Recurrent X Specific Non Disease gene1738 Ins/Del (out of frame) USP9X c.7505delA p.Q2502fs*18 1 Nonrecurrent X Specific Non Disease gene1740 Silent Substitution UTX c.3111G>A p.Q1037Q 27 Recurrent X Specific Non Disease gene1741 Splice VBP1 c.285+5G>A 1 Nonrecurrent X Specific Non Disease gene1742 Silent Substitution VGLL1 c.45A>G p.K15K 7 Recurrent X Specific Non Disease gene1748 NonsenseSubstitution VSIG4 c.973A>T p.R325* 1 Nonrecurrent X Specific Non Disease gene1751 Silent Substitution WDR40B c.1137C>T p.A379A 1 Nonrecurrent X Specific Non Disease gene1753 Silent Substitution WDR40C c.1218C>T p.C406C 50 Recurrent X Specific Non Disease gene1754 Silent Substitution WDR40C c.720A>C p.P240P 31 Recurrent X Specific Non Disease gene1758 Silent Substitution WDR42B c.306G>A p.E102E 11 Recurrent X Specific Non Disease gene1760 Silent Substitution WDR44 c.612C>T p.A204A 1 Nonrecurrent X Specific Non Disease gene1761 Silent Substitution WDR44 c.147G>A p.E49E 6 Recurrent X Specific Non Disease gene1762 Silent Substitution WDR44 c.1776C>T p.N592N 18 Recurrent X Specific Non Disease gene1763 Silent Substitution WDR44 c.951C>T p.T317T 23 Recurrent X Specific Non Disease gene1767 Silent Substitution WNK3 c.2169C>A p.G723G 1 Nonrecurrent X Specific Non Disease gene1768 Silent Substitution WNK3 c.1206T>C p.H402H 1 Nonrecurrent X Specific Non Disease gene1773 Silent Substitution WWC3 c.1560C>T p.H520H 1 Nonrecurrent X Specific Non Disease gene1774 Silent Substitution WWC3 c.1440G>A p.P480P 1 Nonrecurrent X Specific Non Disease gene1775 Silent Substitution WWC3 c.1503A>C p.A501A 5 Recurrent X Specific Non Disease gene1776 Silent Substitution WWC3 c.1128T>C p.R376R 3 Recurrent X Specific Non Disease gene1783 Silent Substitution XKRX c.1287A>G p.V429V 1 Nonrecurrent X Specific Non Disease gene1784 Silent Substitution XKRX c.1215G>A p.L405L 1 Nonrecurrent X Specific Non Disease gene1789 Silent Substitution XPNPEP2 c.2022C>T p.V674V 1 Nonrecurrent X Specific Disease gene1790 Silent Substitution XPNPEP2 c.1236C>T p.S412S 1 Nonrecurrent X Specific Disease gene1791 Silent Substitution XPNPEP2 c.447T>C p.P149P 35 Recurrent X Specific Disease gene1792 Silent Substitution XPNPEP2 c.1824C>G p.P608P 6 Recurrent X Specific Disease gene1797 Silent Substitution ZBED1 c.1872C>T p.S624S 1 Nonrecurrent PAR Non Disease geneNature Genetics: doi:10.1038/ng.367




Score1798 Silent Substitution ZBED1 c.1554C>T p.D518D 1 Nonrecurrent PAR Non Disease gene1799 Silent Substitution ZBED1 c.324C>T p.D108D 16 Recurrent PAR Non Disease gene1800 Silent Substitution ZBED1 c.615T>C p.N205N 17 Recurrent PAR Non Disease gene1801 Silent Substitution ZBED1 c.168C>T p.Y56Y 3 Recurrent PAR Non Disease gene1804 Silent Substitution ZBTB33 c.411T>G p.P137P 1 Nonrecurrent X Specific Non Disease gene1806 Silent Substitution ZC3H12B c.660A>C p.I220I 1 Nonrecurrent X Specific Non Disease gene1808 Silent Substitution ZCCHC13 c.39C>T p.G13G 1 Nonrecurrent X Specific Non Disease gene1809 NonsenseSubstitution ZCCHC13 c.45G>A p.W15* 1 Nonrecurrent X Specific Non Disease gene1814 Ins/Del (out of frame) ZDHHC9 c.175_176insCGCT p.Y59fs*33 1 Nonrecurrent X Specific XLMR gene1815 Splice ZDHHC9 c.167+5G>C 1 Nonrecurrent X Specific XLMR gene1823 Silent Substitution ZMYM3 c.4065C>T p.R1355R 1 Nonrecurrent X Specific Non Disease gene1824 Silent Substitution ZMYM3 c.3945C>T p.N1315N 2 Recurrent X Specific Non Disease gene1827 Silent Substitution ZNF185 c.69G>A p.E23E 1 Nonrecurrent X Specific Non Disease gene1829 Silent Substitution ZNF275 c.810C>T p.C270C 107 Recurrent X Specific Non Disease gene1834 Silent Substitution ZNF41 c.1578T>A p.A526A 1 Nonrecurrent X Specific XLMR gene1835 Silent Substitution ZNF41 c.786G>A p.Q262Q 4 Recurrent X Specific XLMR gene1837 Silent Substitution ZNF449 c.1068T>C p.C356C 17 Recurrent X Specific Non Disease gene1838 Silent Substitution ZNF449 c.471C>T p.A157A 2 Recurrent X Specific Non Disease gene1842 Silent Substitution ZNF630 c.1149C>T p.A383A 1 Nonrecurrent X Specific Non Disease gene1843 Silent Substitution ZNF630 c.1626C>T p.P542P 22 Recurrent X Specific Non Disease gene1844 Silent Substitution ZNF630 c.1671T>C p.H557H 3 Recurrent X Specific Non Disease gene1846 Silent Substitution ZNF645 c.624C>T p.I208I 21 Recurrent X Specific Non Disease gene1847 Silent Substitution ZNF645 c.834G>A p.Q278Q 2 Recurrent X Specific Non Disease gene1849 Silent Substitution ZNF673 c.355A>C p.R119R 1 Nonrecurrent X Specific Non Disease gene1850 Ins/Del (out of frame) ZNF711 c.2157_2158delTG p.719fs*1 1 Nonrecurrent X Specific Non Disease gene1851 Silent Substitution ZNF75 c.1434G>A p.T478T 86 Recurrent X Specific Non Disease gene1853 Silent Substitution ZNF81 c.18C>T p.D6D 1 Nonrecurrent X Specific XLMR gene1854 Silent Substitution ZRSR2 c.864C>T p.N288N 89 Recurrent X Specific Non Disease gene1855 Silent Substitution ZRSR2 c.909C>T p.P303P 5 Recurrent X Specific Non Disease gene1857 Silent Substitution ZXDA c.1155C>T p.P385P 13 Recurrent X Specific Non Disease gene1858 Silent Substitution ZXDA c.1272C>T p.F424F 24 Recurrent X Specific Non Disease gene


Supplementary Table 6: Variants ranked by NNSplice score

Mutation Class Gene Name Mutation Frequency Recurrent / Non-recurrent

Region of X Chromosome Gene Class Splice

SiteNNSplice

ScoreMissense Substitution CASK c.2129A>G p.D710G 1 Nonrecurrent X Specific Non Disease gene Donor 0.99

Silent Substitution DGAT2L3 c.150A>G p.E50E 48 Recurrent X Specific Non Disease gene Donor 0.99Silent Substitution CXYorf3 c.666C>T p.R222R 68 Recurrent PAR Non Disease gene Donor 0.97

Missense Substitution GPR64 c.191A>G p.N64S 1 Nonrecurrent X Specific Non Disease gene Donor 0.95Missense Substitution GTPBP6 c.584G>A p.R195Q 3 Recurrent PAR Non Disease gene Donor 0.94

Silent Substitution SLC7A3 c.237G>A p.L79L 1 Nonrecurrent X Specific Non Disease gene Acceptor 0.94Missense Substitution ZNF41 c.945T>G p.D315E 4 Recurrent X Specific XLMR gene Donor 0.94Missense Substitution ODZ1 c.8030C>T p.A2677V 1 Nonrecurrent X Specific Non Disease gene Donor 0.93Missense Substitution ZFX c.409G>A p.D137N 1 Nonrecurrent X Specific Non Disease gene Donor 0.92Missense Substitution CXorf59 c.98A>T p.D33V 1 Nonrecurrent X Specific Non Disease gene Acceptor 0.9Missense Substitution KIAA2022 c.206C>G p.S69C 2 Recurrent X Specific Non Disease gene Donor 0.88Missense Substitution COL4A6 c.1379G>T p.R460L 1 Nonrecurrent X Specific Disease gene Acceptor 0.87Missense Substitution TIMP1 c.575G>A p.R192Q 1 Nonrecurrent X Specific Non Disease gene Acceptor 0.87Missense Substitution SLC9A6 c.1607G>A p.R536Q 1 Nonrecurrent X Specific XLMR gene Acceptor 0.86

Silent Substitution LUZP4 c.600A>G p.Q200Q 25 Recurrent X Specific Non Disease gene Donor 0.85Silent Substitution MXRA5 c.3747C>T p.S1249S 20 Recurrent X Specific Non Disease gene Donor 0.84

Missense Substitution NHS c.1651C>T p.P551S 3 Recurrent X Specific XLMR gene Acceptor 0.83Missense Substitution BCORL1 c.625G>A p.G209S 17 Recurrent X Specific Non Disease gene Acceptor 0.79

Silent Substitution ARSF c.1602G>A p.V534V 5 Recurrent X Specific Non Disease gene Donor 0.76Missense Substitution ASB11 c.787A>G p.S263G 6 Recurrent X Specific Non Disease gene Donor 0.75Missense Substitution GUCY2F c.1140G>T p.Q380H 1 Nonrecurrent X Specific Non Disease gene Acceptor 0.74Missense Substitution RAB40AL c.82A>G p.S28G 1 Nonrecurrent X Specific Non Disease gene Donor 0.72

Silent Substitution HUWE1 c.147C>T p.C49C 1 Nonrecurrent X Specific XLMR gene Donor 0.7Missense Substitution PLXNA3 c.2589C>G p.D863E 9 Recurrent X Specific Non Disease gene Donor 0.69Missense Substitution CLDN2 c.56T>C p.L19S 1 Nonrecurrent X Specific Non Disease gene Acceptor 0.68

Silent Substitution KLHL15 c.1779G>A p.P593P 1 Nonrecurrent X Specific Non Disease gene Acceptor 0.67Silent Substitution CACNA1F c.1842C>T p.G614G 55 Recurrent X Specific Disease gene Donor 0.66

Missense Substitution CTPS2 c.308G>A p.R103H 2 Recurrent X Specific Non Disease gene Donor 0.63Silent Substitution PLXNA3 c.5373T>C p.Y1791Y 1 Nonrecurrent X Specific Non Disease gene Donor 0.63

Missense Substitution SAGE1 c.2654C>T p.A885V 1 Nonrecurrent X Specific Non Disease gene Donor 0.62Missense Substitution ARSF c.175G>C p.D59H 74 Recurrent X Specific Non Disease gene Acceptor 0.61Missense Substitution ZC3H12B c.1564C>T p.R522C 1 Nonrecurrent X Specific Non Disease gene Acceptor 0.6Missense Substitution ARSF c.178C>T p.R60C 73 Recurrent X Specific Non Disease gene Acceptor 0.59Missense Substitution ACE2 c.2158A>G p.N720D 6 Recurrent X Specific Non Disease gene Donor 0.57

Silent Substitution MID1 c.861G>A p.G287G 1 Nonrecurrent X Specific XLMR gene Donor 0.54Silent Substitution POF1B c.1383G>A p.T461T 2 Recurrent X Specific Disease gene Donor 0.54Silent Substitution GRPR c.396G>A p.T132T 3 Recurrent X Specific Non Disease gene Acceptor 0.53

Missense Substitution SERPINA7 c.909G>T p.L303F 25 Recurrent X Specific Disease gene Acceptor 0.53Silent Substitution IGSF1 c.3579C>T p.V1193V 42 Recurrent X Specific Non Disease gene Acceptor 0.52

Missense Substitution SRPX c.673C>T p.P225S 2 Recurrent X Specific Non Disease gene Acceptor 0.49Missense Substitution AFF2 c.2656C>G p.P886A 1 Nonrecurrent X Specific XLMR gene Acceptor 0.44

Silent Substitution LAMP2 c.927C>T p.S309S 12 Recurrent X Specific XLMR gene Acceptor 0.44Silent Substitution ARMCX5 c.1239A>G p.G413G 7 Recurrent X Specific Non Disease gene Acceptor 0.43

Missense Substitution DIAPH2 c.247G>A p.A83T 1 Nonrecurrent X Specific Disease gene Donor 0.43Missense Substitution ELK1 c.970A>T p.S324C 1 Nonrecurrent X Specific Non Disease gene Acceptor 0.43

Silent Substitution PRKX c.249C>T p.P83P 95 Recurrent X Specific Non Disease gene Acceptor 0.42Missense Substitution KCNE1L c.97C>T p.P33S 17 Recurrent X Specific Non Disease gene Acceptor 0.41Missense Substitution RAB40A c.134A>C p.H45P 1 Nonrecurrent X Specific Non Disease gene Acceptor 0.41Missense Substitution ABCB7 c.941G>A p.R314Q 1 Nonrecurrent X Specific Disease gene

Silent Substitution ABCB7 c.1323T>C p.D441D 1 Nonrecurrent X Specific Disease geneSilent Substitution ABCD1 c.1548G>A p.L516L 35 Recurrent X Specific XLMR gene

Missense Substitution ACE2 c.1514A>G p.H505R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ACE2 c.77A>G p.K26R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ACE2 c.149A>T p.Y50F 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ACE2 c.631G>A p.G211R 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution ACE2 c.2247G>A p.V749V 12 Recurrent X Specific Non Disease geneMissense Substitution ACOT9 c.1037A>G p.Q346R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ACOT9 c.1196A>G p.K399R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ACOT9 c.907G>C p.E303Q 5 Recurrent X Specific Non Disease geneMissense Substitution ACOT9 c.566A>G p.H189R 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution ACOT9 c.1207T>C p.L403L 36 Recurrent X Specific Non Disease geneMissense Substitution ACSL4 c.1382C>T p.P461L 1 Nonrecurrent X Specific XLMR geneMissense Substitution ACTRT1 c.529G>A p.A177T 7 Recurrent X Specific Non Disease gene

Silent Substitution ACTRT1 c.954G>T p.V318V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution AFF2 c.1834C>G p.H612D 1 Nonrecurrent X Specific XLMR gene

Silent Substitution AFF2 c.1488G>A p.S496S 7 Recurrent X Specific XLMR geneMissense Substitution AGTR2 c.62G>T p.G21V 1 Nonrecurrent X Specific XLMR gene

Silent Substitution AIFM1 c.801G>A p.L267L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution AIFM1 c.273T>C p.D91D 88 Recurrent X Specific Non Disease geneSilent Substitution AIFM1 c.789G>A p.L263L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution AIFM1 c.261T>C p.D87D 80 Recurrent X Specific Non Disease gene

Missense Substitution AKAP14 c.386C>G p.A129G 3 Recurrent X Specific Non Disease geneMissense Substitution AKAP4 c.2312A>C p.Q771P 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution ALG13 c.183C>T p.Y61Y 5 Recurrent X Specific Non Disease geneMissense Substitution AMELX c.227A>G p.H76R 1 Nonrecurrent X Specific Disease gene

Silent Substitution AMELX c.261C>T p.H87H 30 Recurrent X Specific Disease geneSilent Substitution AMMECR1 c.960T>C p.N320N 2 Recurrent X Specific Non Disease geneIns/Del (in frame) AMOT TGCTGTTGCTGCTGCTGCTGCTCCAG 5 Recurrent X Specific Non Disease geneIns/Del (in frame) AMOT c.1857_1858insCCT p.A620>PA 5 Recurrent X Specific Non Disease gene

Missense Substitution AMOT c.1261G>A p.G421R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution AMOT c.1576A>G p.T526A 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution AMOT c.1203C>A p.I401I 18 Recurrent X Specific Non Disease geneSilent Substitution AMOT c.726C>T p.N242N 2 Recurrent X Specific Non Disease geneSilent Substitution AMOT c.15G>A p.Q5Q 4 Recurrent X Specific Non Disease gene





SiteNNSplice

ScoreIns/Del (out of frame) AP1S2 c.180-2delTACA 1 Nonrecurrent X Specific XLMR geneNonsenseSubstitution AP1S2 c.106C>T p.Q36* 1 Nonrecurrent X Specific XLMR geneNonsenseSubstitution AP1S2 c.154C>T p.R52* 1 Nonrecurrent X Specific XLMR geneMissense Substitution APEX2 c.968C>T p.P323L 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution APEX2 c.1278T>C p.T426T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution APEX2 c.249C>T p.A83A 4 Recurrent X Specific Non Disease geneSilent Substitution APEX2 c.177C>T p.P59P 2 Recurrent X Specific Non Disease geneSilent Substitution APEX2 c.1038C>A p.L346L 5 Recurrent X Specific Non Disease gene

Missense Substitution APLN c.223A>G p.M75V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution APOO c.133G>T p.V45F 1 Nonrecurrent X Specific Non Disease geneMissense Substitution APOOL c.40G>T p.A14S 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution AR c.636G>A p.R212R 1 Nonrecurrent X Specific Disease geneSilent Substitution AR c.1737C>T p.S579S 1 Nonrecurrent X Specific Disease geneSilent Substitution AR c.639G>A p.E213E 22 Recurrent X Specific Disease gene

Missense Substitution ARAF c.542C>A p.T181N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ARHGAP4 c.157A>G p.M53V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ARHGAP4 c.2470A>C p.S824R 2 Recurrent X Specific Non Disease gene

Silent Substitution ARHGAP4 c.1533G>A p.K511K 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ARHGAP6 c.2373C>G p.D791E 34 Recurrent X Specific Non Disease gene

Silent Substitution ARHGAP6 c.2289C>A p.S763S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ARHGEF6 c.362G>A p.R121H 1 Nonrecurrent X Specific XLMR geneMissense Substitution ARHGEF6 c.992A>G p.Y331C 1 Nonrecurrent X Specific XLMR gene

Silent Substitution ARMCX1 c.15G>A p.R5R 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ARMCX1 c.309C>T p.G103G 28 Recurrent X Specific Non Disease geneSilent Substitution ARMCX2 c.639G>A p.S213S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ARMCX2 c.1509G>A p.Q503Q 54 Recurrent X Specific Non Disease gene

Missense Substitution ARMCX3 c.1004T>A p.F335Y 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ARMCX3 c.888G>A p.K296K 30 Recurrent X Specific Non Disease geneSilent Substitution ARMCX4 c.246C>T p.Y82Y 25 Recurrent X Specific Non Disease gene

Missense Substitution ARMCX4 c.526A>G p.R176G 128 Recurrent X Specific Non Disease geneSilent Substitution ARMCX4 c.81C>T p.Y27Y 143 Recurrent X Specific Non Disease gene

Missense Substitution ARMCX5 c.26G>A p.R9K 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ARMCX5 c.466A>G p.T156A 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution ARMCX5 c.609C>T p.I203I 4 Recurrent X Specific Non Disease geneMissense Substitution ARMCX6 c.463A>G p.S155G 29 Recurrent X Specific Non Disease gene

Ins/Del (in frame) ARSD GCGTGGGCTGCCTGTTTTTCATCTCTT 6 Recurrent X Specific Non Disease geneMissense Substitution ARSD c.470C>T p.S157F 14 Recurrent X Specific Non Disease geneMissense Substitution ARSD c.497T>A p.L166Q 16 Recurrent X Specific Non Disease geneMissense Substitution ARSD c.671C>G p.S224C 94 Recurrent X Specific Non Disease geneMissense Substitution ARSD c.527T>A p.M176K 16 Recurrent X Specific Non Disease geneMissense Substitution ARSD c.524G>A p.G175D 45 Recurrent X Specific Non Disease geneMissense Substitution ARSD c.1691T>C p.M564T 7 Recurrent X Specific Non Disease geneMissense Substitution ARSD c.661G>A p.G221S 14 Recurrent X Specific Non Disease geneMissense Substitution ARSD c.667T>C p.F223L 2 Recurrent X Specific Non Disease geneMissense Substitution ARSD c.667T>A p.F223I 13 Recurrent X Specific Non Disease gene

Silent Substitution ARSD c.624G>C p.A208A 17 Recurrent X Specific Non Disease geneSilent Substitution ARSD c.648C>T p.A216A 18 Recurrent X Specific Non Disease geneSilent Substitution ARSD c.570C>T p.P190P 15 Recurrent X Specific Non Disease geneSilent Substitution ARSD c.693C>T p.T231T 2 Recurrent X Specific Non Disease gene

Missense Substitution ARSE c.548G>A p.R183H 1 Nonrecurrent X Specific Disease geneSilent Substitution ARSE c.786G>A p.T262T 6 Recurrent X Specific Disease geneSilent Substitution ARSE c.495T>C p.H165H 4 Recurrent X Specific Disease gene

Missense Substitution ARSF c.1579C>T p.H527Y 16 Recurrent X Specific Non Disease geneMissense Substitution ARSF c.1579C>A p.H527N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ARSF c.1141G>A p.V381I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ARSF c.598A>G p.I200V 8 Recurrent X Specific Non Disease geneMissense Substitution ARSF c.244C>T p.R82W 77 Recurrent X Specific Non Disease geneMissense Substitution ARSF c.251C>T p.A84V 77 Recurrent X Specific Non Disease geneMissense Substitution ARSF c.223G>A p.A75T 74 Recurrent X Specific Non Disease geneMissense Substitution ARSF c.229C>A p.L77I 76 Recurrent X Specific Non Disease gene

Silent Substitution ARSF c.1386C>T p.D462D 10 Recurrent X Specific Non Disease geneSilent Substitution ARSF c.1357C>T p.L453L 9 Recurrent X Specific Non Disease geneSilent Substitution ARSF c.273C>G p.P91P 71 Recurrent X Specific Non Disease geneSilent Substitution ARSF c.810A>G p.E270E 22 Recurrent X Specific Non Disease geneSilent Substitution ARSF c.18C>G p.P6P 4 Recurrent X Specific Non Disease gene

Splice ARSF c.1102+5G>A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ARSH c.1552C>T p.R518C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ARSH c.430C>A p.P144T 3 Recurrent X Specific Non Disease geneMissense Substitution ARSH c.563G>A p.R188H 6 Recurrent X Specific Non Disease gene

Silent Substitution ARSH c.147C>T p.L49L 2 Recurrent X Specific Non Disease geneSilent Substitution ARSH c.1611A>G p.P537P 3 Recurrent X Specific Non Disease geneSilent Substitution ARSH c.192C>T p.T64T 11 Recurrent X Specific Non Disease gene

Missense Substitution ASB12 c.712G>T p.G238C 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ASB12 c.792C>A p.A264A 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ASB12 c.45C>T p.P15P 3 Recurrent X Specific Non Disease gene

Missense Substitution ASB9 c.707T>C p.V236A 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ASB9 c.357T>C p.N119N 2 Recurrent X Specific Non Disease gene

Missense Substitution ASMT c.51C>A p.N17K 1 Nonrecurrent PAR Non Disease geneSilent Substitution ASMT c.187C>T p.L63L 1 Nonrecurrent PAR Non Disease geneSilent Substitution ASMT c.45C>T p.Y15Y 1 Nonrecurrent PAR Non Disease geneSilent Substitution ASMT c.861C>T p.D287D 26 Recurrent PAR Non Disease gene

Missense Substitution ASMTL c.585C>G p.N195K 1 Nonrecurrent PAR Non Disease geneMissense Substitution ASMTL c.682T>C p.S228P 48 Recurrent PAR Non Disease geneMissense Substitution ASMTL c.1090T>C p.Y364H 49 Recurrent PAR Non Disease gene





SiteNNSplice

ScoreMissense Substitution ASMTL c.1300G>A p.G434S 36 Recurrent PAR Non Disease geneMissense Substitution ASMTL c.1622G>A p.R541K 3 Recurrent PAR Non Disease gene

Silent Substitution ASMTL c.1215G>A p.A405A 1 Nonrecurrent PAR Non Disease geneSilent Substitution ASMTL c.1671G>A p.T557T 1 Nonrecurrent PAR Non Disease geneSilent Substitution ASMTL c.996G>A p.A332A 1 Nonrecurrent PAR Non Disease geneSilent Substitution ASMTL c.1101G>A p.S367S 1 Nonrecurrent PAR Non Disease geneSilent Substitution ASMTL c.1386G>C p.T462T 70 Recurrent PAR Non Disease geneSilent Substitution ASMTL c.276A>G p.T92T 14 Recurrent PAR Non Disease geneSilent Substitution ASMTL c.732C>T p.G244G 74 Recurrent PAR Non Disease geneSilent Substitution ASMTL c.648T>C p.R216R 72 Recurrent PAR Non Disease gene

Ins/Del (out of frame) ASMTL c.1864delT p.*622fs*8 68 Recurrent PAR Non Disease geneMissense Substitution ATP11C c.2009G>A p.G670D 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ATP11C c.840A>T p.K280N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ATP11C c.2177G>A p.R726H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ATP11C c.1303A>G p.K435E 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ATP11C c.1750A>G p.T584A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ATP11C c.342T>G p.C114W 155 Recurrent X Specific Non Disease gene

Silent Substitution ATP11C c.1653T>C p.S551S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ATP1B4 c.910A>T p.T304S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ATP1B4 c.23G>C p.R8T 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution ATP1B4 c.261G>A p.Q87Q 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ATP2B3 c.1687G>A p.E563K 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution ATP2B3 c.1014G>A p.E338E 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ATP2B3 c.588G>A p.T196T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ATP2B3 c.1686C>G p.R562R 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ATP2B3 c.1473A>G p.G491G 116 Recurrent X Specific Non Disease geneSilent Substitution ATP2B3 c.2592G>C p.V864V 111 Recurrent X Specific Non Disease geneSilent Substitution ATP6AP2 c.472C>T p.L158L 1 Nonrecurrent X Specific XLMR geneSilent Substitution ATP6AP2 c.765T>C p.Y255Y 1 Nonrecurrent X Specific XLMR gene

Missense Substitution ATP7A c.1009G>A p.A337T 1 Nonrecurrent X Specific XLMR geneMissense Substitution ATP7A c.2299G>C p.V767L 30 Recurrent X Specific XLMR gene

Silent Substitution ATP7A c.327G>A p.K109K 2 Recurrent X Specific XLMR geneIns/Del (in frame) ATRX 568_576delGCTTTTAAG p.A190_S193> 1 Nonrecurrent X Specific XLMR gene

Missense Substitution ATRX c.6149A>C p.H2050P 1 Nonrecurrent X Specific XLMR geneMissense Substitution ATRX c.4525C>T p.P1509S 1 Nonrecurrent X Specific XLMR geneMissense Substitution ATRX c.4253C>T p.A1418V 1 Nonrecurrent X Specific XLMR geneMissense Substitution ATRX c.826A>G p.T276A 1 Nonrecurrent X Specific XLMR geneMissense Substitution ATRX c.4967A>G p.N1656S 2 Recurrent X Specific XLMR geneMissense Substitution ATRX c.5642G>A p.R1881H 1 Nonrecurrent X Specific XLMR geneMissense Substitution ATRX c.2173C>G p.Q725E 39 Recurrent X Specific XLMR geneMissense Substitution ATRX c.1983C>G p.H661Q 2 Recurrent X Specific XLMR gene

Silent Substitution ATRX c.6642C>T p.Y2214Y 1 Nonrecurrent X Specific XLMR geneSilent Substitution ATRX c.234C>T p.S78S 1 Nonrecurrent X Specific XLMR gene

Missense Substitution ATXN3L c.995G>A p.G332D 60 Recurrent X Specific Non Disease geneMissense Substitution ATXN3L c.765G>C p.M255I 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution ATXN3L c.939G>A p.R313R 22 Recurrent X Specific Non Disease geneNonsenseSubstitution ATXN3L c.76G>T p.E26* 1 Nonrecurrent X Specific Non Disease geneMissense Substitution AVPR2 c.35G>A p.G12E 4 Recurrent X Specific Disease gene

Silent Substitution AVPR2 c.1017G>A p.L339L 1 Nonrecurrent X Specific Disease geneSilent Substitution AVPR2 c.117G>A p.A39A 1 Nonrecurrent X Specific Disease geneSilent Substitution AVPR2 c.927A>G p.L309L 49 Recurrent X Specific Disease geneSilent Substitution AVPR2 c.993C>T p.S331S 4 Recurrent X Specific Disease gene

Missense Substitution BCOR c.4789G>A p.D1597N 1 Nonrecurrent X Specific XLMR geneSilent Substitution BCOR c.1650C>T p.T550T 1 Nonrecurrent X Specific XLMR geneSilent Substitution BCOR c.3348C>T p.P1116P 1 Nonrecurrent X Specific XLMR geneSilent Substitution BCOR c.1257A>G p.K419K 1 Nonrecurrent X Specific XLMR geneSilent Substitution BCOR c.1692A>G p.A564A 14 Recurrent X Specific XLMR geneSilent Substitution BCOR c.1260T>C p.D420D 167 Recurrent X Specific XLMR gene

Missense Substitution BCORL1 c.3601G>A p.E1201K 1 Nonrecurrent X Specific Non Disease geneMissense Substitution BCORL1 c.3143G>A p.R1048Q 1 Nonrecurrent X Specific Non Disease geneMissense Substitution BCORL1 c.3158A>G p.K1053R 2 Recurrent X Specific Non Disease gene

Silent Substitution BCORL1 c.2064C>T p.V688V 1 Nonrecurrent X Specific Non Disease geneSilent Substitution BCORL1 c.4011C>T p.S1337S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution BCORL1 c.1446G>A p.P482P 2 Recurrent X Specific Non Disease gene

Missense Substitution BEX2 c.207A>G p.I69M 1 Nonrecurrent X Specific Non Disease geneSilent Substitution BEX2 c.204C>T p.D68D 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution BEX4 c.22G>A p.E8K 1 Nonrecurrent X Specific Non Disease geneMissense Substitution BEX4 c.15C>G p.I5M 7 Recurrent X Specific Non Disease gene

Silent Substitution BEX4 c.567C>T p.C189C 2 Recurrent X Specific Non Disease geneSplice BEX4 c.103+1G>A 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution BGN c.257A>G p.K86R 2 Recurrent X Specific Non Disease geneSilent Substitution BGN c.540C>T p.S180S 77 Recurrent X Specific Non Disease geneSilent Substitution BGN c.141G>A p.S47S 89 Recurrent X Specific Non Disease geneSilent Substitution BGN c.564C>T p.I188I 3 Recurrent X Specific Non Disease geneSilent Substitution BHLHB9 c.1212T>C p.H404H 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution BIRC4 c.769C>G p.P257A 1 Nonrecurrent X Specific Disease geneMissense Substitution BIRC4 c.1268A>C p.Q423P 58 Recurrent X Specific Disease geneMissense Substitution BIRC4 c.1411T>C p.C471R 28 Recurrent X Specific Disease geneMissense Substitution BIRC4 c.1456A>G p.T486A 22 Recurrent X Specific Disease geneMissense Substitution BIRC4 c.1387G>A p.V463I 28 Recurrent X Specific Disease geneMissense Substitution BIRC4 c.1403T>C p.L468P 28 Recurrent X Specific Disease gene

Ins/Del (in frame) BMP15 c.788_789insTCT p.R264> 1 Nonrecurrent X Specific Disease geneMissense Substitution BMP15 c.538G>A p.A180T 1 Nonrecurrent X Specific Disease geneMissense Substitution BMP15 c.413G>A p.R138H 1 Nonrecurrent X Specific Disease gene





SiteNNSplice

ScoreMissense Substitution BMP15 c.308A>G p.N103S 16 Recurrent X Specific Disease geneMissense Substitution BMP15 c.202C>T p.R68W 1 Nonrecurrent X Specific Disease geneMissense Substitution BMP15 c.520C>T p.P174S 1 Nonrecurrent X Specific Disease gene

Silent Substitution BMP15 c.852C>T p.S284S 2 Recurrent X Specific Disease geneMissense Substitution BMP2KL c.401G>A p.S134N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution BMX c.851C>T p.S284L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution BMX c.506G>A p.R169K 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution BMX c.264T>A p.L88L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution BRWD3 c.4786A>G p.K1596E 1 Nonrecurrent X Specific XLMR geneIns/Del (out of frame) BRWD3 c.946_947insA p.R316fs*2 1 Nonrecurrent X Specific XLMR gene

Splice BRWD3 c.3325+1G>T 1 Nonrecurrent X Specific XLMR geneSilent Substitution BTK c.1899C>T p.C633C 32 Recurrent X Specific Disease gene

Missense Substitution C1GALT1C1 c.428C>T p.A143V 1 Nonrecurrent X Specific Disease geneMissense Substitution C1GALT1C1 c.393T>A p.D131E 36 Recurrent X Specific Disease gene

Silent Substitution CA5B c.189C>A p.R63R 1 Nonrecurrent X Specific Non Disease geneSilent Substitution CA5B c.918G>A p.A306A 66 Recurrent X Specific Non Disease gene

Missense Substitution CACNA1F c.2417C>T p.A806V 1 Nonrecurrent X Specific Disease geneMissense Substitution CACNA1F c.1556G>A p.R519Q 1 Nonrecurrent X Specific Disease geneMissense Substitution CACNA1F c.5789G>A p.R1930H 5 Recurrent X Specific Disease geneMissense Substitution CACNA1F c.1903G>A p.V635I 1 Nonrecurrent X Specific Disease gene

Silent Substitution CACNA1F c.3846G>A p.E1282E 1 Nonrecurrent X Specific Disease geneSilent Substitution CACNA1F c.5862C>T p.D1954D 1 Nonrecurrent X Specific Disease geneSilent Substitution CACNA1F c.3309T>C p.H1103H 53 Recurrent X Specific Disease gene

Missense Substitution CAPN6 c.1493C>T p.T498I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CAPN6 c.829G>C p.V277L 6 Recurrent X Specific Non Disease gene

Silent Substitution CAPN6 c.1449C>T p.L483L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution CAPN6 c.432C>T p.N144N 1 Nonrecurrent X Specific Non Disease geneSilent Substitution CAPN6 c.1026T>C p.N342N 8 Recurrent X Specific Non Disease gene

Missense Substitution CASK c.802T>C p.Y268H 1 Nonrecurrent X Specific Non Disease geneSilent Substitution CASK c.1392C>T p.T464T 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution CCDC120 c.1778G>A p.R593H 1 Nonrecurrent X Specific Non Disease geneSilent Substitution CCDC120 c.102G>T p.G34G 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution CCDC22 c.1288G>A p.A430T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CCDC22 c.49A>G p.T17A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CCDC22 c.715G>A p.E239K 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution CCDC22 c.747G>A p.Q249Q 29 Recurrent X Specific Non Disease geneMissense Substitution CCNB3 c.2221A>G p.T741A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CCNB3 c.3809G>A p.R1270K 2 Recurrent X Specific Non Disease gene

Silent Substitution CCNB3 c.3750C>T p.N1250N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CD40LG c.655G>A p.G219R 3 Recurrent X Specific Disease gene

Silent Substitution CD40LG c.148T>C p.L50L 36 Recurrent X Specific Disease geneMissense Substitution CD99 c.518A>T p.N173I 4 Recurrent PAR Non Disease geneMissense Substitution CD99 c.493G>A p.D165N 4 Recurrent PAR Non Disease geneMissense Substitution CD99 c.496A>G p.M166V 4 Recurrent PAR Non Disease gene

Silent Substitution CD99 c.363C>T p.A121A 10 Recurrent PAR Non Disease geneMissense Substitution CD99L2 c.758C>T p.P253L 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution CD99L2 c.24C>T p.F8F 3 Recurrent X Specific Non Disease geneMissense Substitution CDKL5 c.2372A>C p.Q791P 16 Recurrent X Specific XLMR geneMissense Substitution CDKL5 c.2200A>G p.T734A 1 Nonrecurrent X Specific XLMR geneMissense Substitution CDKL5 c.2840C>T p.P947L 1 Nonrecurrent X Specific XLMR gene

Silent Substitution CDKL5 c.3003C>T p.H1001H 1 Nonrecurrent X Specific XLMR geneSilent Substitution CDKL5 c.3084G>A p.T1028T 1 Nonrecurrent X Specific XLMR gene

Missense Substitution CDR1 c.620T>C p.I207T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CDR1 c.571T>C p.W191R 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution CDR1 c.300G>A p.L100L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CENPI c.167A>G p.H56R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CENPI c.1667T>C p.F556S 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution CENPI c.1674G>A p.L558L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution CENPI c.1479G>T p.V493V 51 Recurrent X Specific Non Disease gene

Missense Substitution CFP c.359T>C p.L120P 1 Nonrecurrent X Specific Disease geneMissense Substitution CFP c.1187G>A p.G396E 1 Nonrecurrent X Specific Disease gene

Silent Substitution CFP c.1284C>T p.N428N 26 Recurrent X Specific Disease geneMissense Substitution CHM c.265A>T p.S89C 5 Recurrent X Specific Disease geneMissense Substitution CHM c.1100G>A p.R367Q 1 Nonrecurrent X Specific Disease gene

Silent Substitution CHM c.351A>G p.A117A 28 Recurrent X Specific Disease geneSilent Substitution CHM c.1641G>T p.L547L 2 Recurrent X Specific Disease geneSilent Substitution CHRDL1 c.951A>G p.K317K 74 Recurrent X Specific Non Disease gene

Missense Substitution CITED1 c.288C>G p.H96Q 46 Recurrent X Specific Non Disease geneMissense Substitution CLCN4 c.635T>G p.V212G 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CLCN4 c.949G>A p.V317I 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution CLCN4 c.1758G>A p.V586V 1 Nonrecurrent X Specific Non Disease geneSilent Substitution CLCN4 c.1632G>A p.G544G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution CLCN4 c.1437G>A p.A479A 6 Recurrent X Specific Non Disease gene

Missense Substitution CLCN5 c.1625C>T p.A542V 1 Nonrecurrent X Specific Disease geneMissense Substitution CLCN5 c.384C>G p.S128R 1 Nonrecurrent X Specific Disease geneMissense Substitution CLIC2 c.478C>G p.P160A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CNGA2 c.913G>A p.D305N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CNGA2 c.416G>T p.W139L 23 Recurrent X Specific Non Disease geneMissense Substitution CNGA2 c.634C>G p.R212G 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CNGA2 c.1987G>A p.E663K 11 Recurrent X Specific Non Disease geneMissense Substitution CNGA2 c.338G>T p.G113V 2 Recurrent X Specific Non Disease geneMissense Substitution CNGA2 c.1081G>A p.V361I 2 Recurrent X Specific Non Disease gene

Silent Substitution CNGA2 c.840C>T p.L280L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution CNGA2 c.1527G>A p.Q509Q 1 Nonrecurrent X Specific Non Disease gene





SiteNNSplice

ScoreSilent Substitution CNGA2 c.582G>A p.L194L 17 Recurrent X Specific Non Disease gene

Missense Substitution CNKSR2 c.2598C>G p.D866E 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CNKSR2 c.592A>G p.I198V 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution CNKSR2 c.651A>G p.Q217Q 1 Nonrecurrent X Specific Non Disease geneMissense Substitution COL4A5 c.1992G>T p.K664N 3 Recurrent X Specific Disease geneMissense Substitution COL4A5 c.1289C>A p.A430D 1 Nonrecurrent X Specific Disease gene

Silent Substitution COL4A5 c.2571A>G p.G857G 1 Nonrecurrent X Specific Disease geneMissense Substitution COL4A6 c.3886C>T p.P1296S 1 Nonrecurrent X Specific Disease geneMissense Substitution COL4A6 c.3481A>G p.I1161V 9 Recurrent X Specific Disease geneMissense Substitution COL4A6 c.323C>T p.P108L 1 Nonrecurrent X Specific Disease geneMissense Substitution COL4A6 c.3760G>T p.A1254S 1 Nonrecurrent X Specific Disease geneMissense Substitution COL4A6 c.1360T>C p.S454P 23 Recurrent X Specific Disease gene

Silent Substitution COL4A6 c.3078C>T p.G1026G 35 Recurrent X Specific Disease geneSilent Substitution COL4A6 c.3402C>T p.A1134A 4 Recurrent X Specific Disease gene

Missense Substitution CPXCR1 c.755G>C p.G252A 5 Recurrent X Specific Non Disease geneMissense Substitution CPXCR1 c.392G>A p.R131H 82 Recurrent X Specific Non Disease geneMissense Substitution CPXCR1 c.532A>T p.I178L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CPXCR1 c.773C>T p.T258I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MED14 c.2860T>C p.Y954H 2 Recurrent X Specific Non Disease gene

Silent Substitution MED14 c.4041G>A p.P1347P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MED14 c.2094A>G p.Q698Q 2 Recurrent X Specific Non Disease gene

Missense Substitution CSAG1 c.83A>T p.Y28F 3 Recurrent X Specific Non Disease geneMissense Substitution CSAG1 c.83A>G p.Y28C 2 Recurrent X Specific Non Disease gene

Silent Substitution CSAG4 c.78C>T p.P26P 37 Recurrent X Specific Non Disease geneMissense Substitution CSF2RA c.50C>G p.A17G 7 Recurrent PAR Non Disease geneMissense Substitution CSF2RA c.223A>G p.S75G 1 Nonrecurrent PAR Non Disease geneMissense Substitution CSF2RA c.1045T>C p.F349L 1 Nonrecurrent PAR Non Disease gene

Silent Substitution CSF2RA c.987G>C p.V329V 1 Nonrecurrent PAR Non Disease geneSilent Substitution CSF2RA c.999G>A p.V333V 91 Recurrent PAR Non Disease gene

Missense Substitution CSTF2 c.683C>G p.A228G 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CTAG2 c.522G>T p.K174N 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution CTAG2 c.345T>G p.P115P 60 Recurrent X Specific Non Disease geneSilent Substitution CTPS2 c.1599G>A p.P533P 4 Recurrent X Specific Non Disease gene

Missense Substitution CUL4B c.1714C>T p.R572C 1 Nonrecurrent X Specific XLMR geneMissense Substitution CUL4B c.638C>T p.T213I 1 Nonrecurrent X Specific XLMR gene

Silent Substitution CUL4B c.2234T>C p.V745A 1 Nonrecurrent X Specific XLMR geneIns/Del (out of frame) CUL4B c.1007_1011delTTATA p.I336fs*2 1 Nonrecurrent X Specific XLMR geneNonsenseSubstitution CUL4B c.1162C>T p.R388* 1 Nonrecurrent X Specific XLMR geneNonsenseSubstitution CUL4B c.2566C>T p.R856* 1 Nonrecurrent X Specific XLMR gene

Splice CUL4B c.901-2A>G 1 Nonrecurrent X Specific XLMR geneSplice CUL4B c.2493G>A p.T831T 1 Nonrecurrent X Specific XLMR gene

Missense Substitution CXorf1 c.106T>G p.S36A 2 Recurrent X Specific Non Disease geneMissense Substitution CXorf15 c.894A>C p.E298D 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CXorf15 c.736A>G p.I246V 2 Recurrent X Specific Non Disease geneMissense Substitution CXorf15 c.305C>T p.T102M 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution CXorf15 c.1326G>A p.Q442Q 62 Recurrent X Specific Non Disease geneMissense Substitution CXorf20 c.1435C>G p.L479V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CXorf20 c.462T>G p.F154L 23 Recurrent X Specific Non Disease gene

Silent Substitution CXorf20 c.1164C>A p.P388P 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CXorf21 c.362G>T p.C121F 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution CXorf21 c.627T>G p.V209V 122 Recurrent X Specific Non Disease geneMissense Substitution CXorf22 c.835C>T p.P279S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CXorf22 c.706G>A p.V236M 22 Recurrent X Specific Non Disease gene

Silent Substitution CXorf22 c.223C>A p.R75R 1 Nonrecurrent X Specific Non Disease geneSilent Substitution CXorf22 c.129C>T p.I43I 22 Recurrent X Specific Non Disease geneSilent Substitution CXorf22 c.180C>T p.L60L 3 Recurrent X Specific Non Disease geneSilent Substitution CXorf22 c.630G>A p.Q210Q 3 Recurrent X Specific Non Disease geneSilent Substitution CXorf22 c.1926T>C p.L642L 10 Recurrent X Specific Non Disease gene

Missense Substitution CXorf23 c.631G>T p.V211L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CXorf24 c.251C>T p.T84I 53 Recurrent X Specific Non Disease geneMissense Substitution CXorf25 c.167G>A p.G56E 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CXorf25 c.284C>T p.P95L 5 Recurrent X Specific Non Disease geneMissense Substitution CXorf27 c.292G>A p.A98T 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution CXorf27 c.171C>T p.L57L 2 Recurrent X Specific Non Disease geneMissense Substitution CXorf28 c.17C>T p.A6V 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution CXorf28 c.63G>A p.G21G 17 Recurrent X Specific Non Disease geneMissense Substitution CXorf30 c.398A>G p.H133R 13 Recurrent X Specific Non Disease geneMissense Substitution CXorf30 c.2738T>A p.F913Y 13 Recurrent X Specific Non Disease geneMissense Substitution CXorf30 c.2336T>C p.M779T 2 Recurrent X Specific Non Disease geneMissense Substitution CXorf30 c.515C>T p.T172M 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CXorf30 c.233G>A p.R78H 3 Recurrent X Specific Non Disease gene

Silent Substitution CXorf30 c.261A>G p.L87L 2 Recurrent X Specific Non Disease geneSilent Substitution CXorf30 c.18A>G p.E6E 5 Recurrent X Specific Non Disease gene

Missense Substitution CXorf34 c.1009G>A p.G337R 13 Recurrent X Specific Non Disease geneMissense Substitution CXorf34 c.333A>C p.L111F 7 Recurrent X Specific Non Disease geneMissense Substitution CXorf36 c.383G>A p.R128K 67 Recurrent X Specific Non Disease geneMissense Substitution CXorf38 c.629C>T p.T210M 4 Recurrent X Specific Non Disease gene

Silent Substitution CXorf38 c.76T>C p.L26L 97 Recurrent X Specific Non Disease geneSilent Substitution CXorf41 c.333G>A p.E111E 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution HDX c.1190T>C p.F397S 31 Recurrent X Specific Non Disease geneSilent Substitution HDX c.1683G>A p.P561P 31 Recurrent X Specific Non Disease gene

Missense Substitution CXorf45 c.875C>T p.S292F 1 Nonrecurrent X Specific Non Disease geneSilent Substitution CXorf56 c.375C>T p.G125G 89 Recurrent X Specific Non Disease gene

Missense Substitution CXorf57 c.2279A>G p.H760R 1 Nonrecurrent X Specific Non Disease gene





SiteNNSplice

ScoreSilent Substitution CXorf57 c.2418A>G p.P806P 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution CXorf58 c.62A>G p.Q21R 3 Recurrent X Specific Non Disease geneMissense Substitution CXorf58 c.70C>T p.R24C 50 Recurrent X Specific Non Disease gene

Silent Substitution CXorf58 c.21A>T p.V7V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CXorf59 c.314A>C p.H105P 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CXorf6 c.1547C>T p.T516M 1 Nonrecurrent X Specific Disease geneMissense Substitution CXorf6 c.1480C>T p.P494S 1 Nonrecurrent X Specific Disease geneMissense Substitution CXorf6 c.856C>T p.P286S 17 Recurrent X Specific Disease gene

Silent Substitution CXorf6 c.207C>T p.G69G 1 Nonrecurrent X Specific Disease geneMissense Substitution CXorf9 c.847G>C p.D283H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CXYorf2 c.385C>G p.R129G 33 Recurrent PAR Non Disease geneMissense Substitution CXYorf2 c.320A>T p.H107L 1 Nonrecurrent PAR Non Disease geneMissense Substitution CXYorf2 c.307T>C p.C103R 13 Recurrent PAR Non Disease gene

Silent Substitution CXYorf2 c.390T>C p.D130D 33 Recurrent PAR Non Disease geneSilent Substitution CXYorf2 c.268C>T p.L90L 44 Recurrent PAR Non Disease gene

Missense Substitution CXYorf3 c.386C>T p.S129F 1 Nonrecurrent PAR Non Disease geneMissense Substitution CXYorf3 c.569C>T p.P190L 3 Recurrent PAR Non Disease geneMissense Substitution CXYorf3 c.256A>G p.K86E 1 Nonrecurrent PAR Non Disease geneMissense Substitution CXYorf3 c.310A>G p.S104G 1 Nonrecurrent PAR Non Disease geneMissense Substitution CXYorf3 c.2023C>T p.R675C 5 Recurrent PAR Non Disease geneMissense Substitution CXYorf3 c.1498C>G p.P500A 34 Recurrent PAR Non Disease gene

Silent Substitution CXYorf3 c.1923G>A p.P641P 1 Nonrecurrent PAR Non Disease geneSilent Substitution CXYorf3 c.585C>T p.Y195Y 1 Nonrecurrent PAR Non Disease geneSilent Substitution CXYorf3 c.705C>T p.R235R 1 Nonrecurrent PAR Non Disease geneSilent Substitution CXYorf3 c.255C>T p.N85N 7 Recurrent PAR Non Disease geneSilent Substitution CXYorf3 c.9G>A p.A3A 5 Recurrent PAR Non Disease geneSilent Substitution CYSLTR1 c.927C>T p.F309F 139 Recurrent X Specific Non Disease gene

Missense Substitution DACH2 c.1136C>T p.P379L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution DACH2 c.1268T>C p.M423T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution DDX3X c.1939G>A p.G647R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution DDX53 c.490G>A p.E164K 1 Nonrecurrent X Specific Non Disease geneMissense Substitution DDX53 c.1143G>T p.M381I 25 Recurrent X Specific Non Disease geneMissense Substitution DDX53 c.1172G>T p.R391M 25 Recurrent X Specific Non Disease geneMissense Substitution DDX53 c.319G>T p.A107S 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution DDX53 c.1074C>T p.D358D 2 Recurrent X Specific Non Disease geneMissense Substitution DGAT2L3 c.238C>G p.H80D 3 Recurrent X Specific Non Disease geneMissense Substitution DGAT2L3 c.241C>G p.P81A 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution DGAT2L3 c.648G>A p.T216T 4 Recurrent X Specific Non Disease geneMissense Substitution DGAT2L4 c.82A>C p.I28L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution DGAT2L4 c.286A>G p.I96V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution DIAPH2 c.3106C>A p.R1036S 1 Nonrecurrent X Specific Disease gene

Silent Substitution DIAPH2 c.588C>T p.S196S 2 Recurrent X Specific Disease geneSilent Substitution DKC1 c.1461C>T p.A487A 5 Recurrent X Specific XLMR gene

Missense Substitution DLG3 c.304G>A p.G102S 1 Nonrecurrent X Specific XLMR geneSilent Substitution DLG3 c.429C>T p.F143F 1 Nonrecurrent X Specific XLMR gene

Missense Substitution DMD c.626C>T p.S209F 1 Nonrecurrent X Specific XLMR geneMissense Substitution DMD c.1349A>T p.E450V 3 Recurrent X Specific XLMR geneMissense Substitution DMD c.1354A>G p.N452D 3 Recurrent X Specific XLMR geneMissense Substitution DMD c.1382A>G p.H461R 5 Recurrent X Specific XLMR geneMissense Substitution DMD c.1565G>A p.R522Q 1 Nonrecurrent X Specific XLMR gene

Silent Substitution DMD c.1653G>A p.P551P 1 Nonrecurrent X Specific XLMR geneSilent Substitution DMD c.240G>A p.K80K 1 Nonrecurrent X Specific XLMR geneSilent Substitution DMD c.348T>C p.N116N 33 Recurrent X Specific XLMR geneSilent Substitution DMD c.3409C>T p.L1137L 2 Recurrent X Specific XLMR gene

Missense Substitution DNASE1L1 c.364G>A p.V122I 8 Recurrent X Specific Non Disease geneMissense Substitution DNASE1L1 c.278G>A p.S93N 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution DNASE1L1 c.294G>A p.T98T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution DNASE1L1 c.201C>G p.P67P 114 Recurrent X Specific Non Disease gene

Missense Substitution DRP2 c.1508C>T p.T503M 1 Nonrecurrent X Specific Non Disease geneMissense Substitution DRP2 c.430G>A p.A144T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution DRP2 c.193G>C p.V65L 19 Recurrent X Specific Non Disease geneMissense Substitution DRP2 c.171C>A p.S57R 4 Recurrent X Specific Non Disease gene

Silent Substitution DRP2 c.1746G>A p.E582E 1 Nonrecurrent X Specific Non Disease geneSilent Substitution DRP2 c.1938G>T p.L646L 3 Recurrent X Specific Non Disease gene

Splice DRP2 c.1445+5G>A 7 Recurrent X Specific Non Disease geneSplice DRP2 c.1096+1G>C 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution DUSP21 c.557T>C p.M186T 11 Recurrent X Specific Non Disease geneMissense Substitution DUSP21 c.550C>G p.L184V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution DUSP21 c.562A>G p.I188V 4 Recurrent X Specific Non Disease gene

Silent Substitution DYNLT3 c.183C>T p.A61A 22 Recurrent X Specific Non Disease geneSilent Substitution EDA c.757C>T p.L253L 1 Nonrecurrent X Specific Disease gene

Missense Substitution EDA2R c.170G>A p.R57K 140 Recurrent X Specific Non Disease geneSilent Substitution EDA2R c.621C>T p.N207N 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution EFHC2 c.170G>A p.C57Y 1 Nonrecurrent X Specific Non Disease geneMissense Substitution EFHC2 c.92A>G p.N31S 12 Recurrent X Specific Non Disease geneMissense Substitution EFHC2 c.1519G>C p.E507Q 1 Nonrecurrent X Specific Non Disease geneMissense Substitution EFHC2 c.1289C>A p.S430Y 15 Recurrent X Specific Non Disease geneMissense Substitution EFNB1 c.422G>C p.S141T 1 Nonrecurrent X Specific Disease gene

Silent Substitution EFNB1 c.891C>T p.T297T 1 Nonrecurrent X Specific Disease geneMissense Substitution EGFL6 c.1127A>G p.E376G 1 Nonrecurrent X Specific Non Disease geneMissense Substitution EGFL6 c.1603G>A p.D535N 2 Recurrent X Specific Non Disease geneMissense Substitution EGFL6 c.223G>A p.V75M 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution EGFL6 c.1087C>A p.R363R 1 Nonrecurrent X Specific Non Disease geneSilent Substitution EGFL6 c.867C>T p.S289S 6 Recurrent X Specific Non Disease gene





SiteNNSplice

ScoreMissense Substitution EIF2S3 c.451G>C p.V151L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution EIF2S3 c.374A>G p.K125R 8 Recurrent X Specific Non Disease gene

Silent Substitution EIF2S3 c.99C>T p.H33H 120 Recurrent X Specific Non Disease geneSilent Substitution ELF4 c.1107G>A p.S369S 3 Recurrent X Specific Non Disease geneSilent Substitution ELF4 c.1509G>A p.T503T 54 Recurrent X Specific Non Disease geneSilent Substitution ELF4 c.1152A>T p.P384P 3 Recurrent X Specific Non Disease gene

Missense Substitution ELK1 c.548G>A p.S183N 2 Recurrent X Specific Non Disease geneSilent Substitution ELK1 c.141G>A p.G47G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ELK1 c.672C>A p.P224P 2 Recurrent X Specific Non Disease gene

Missense Substitution EMD c.684G>T p.Q228H 1 Nonrecurrent X Specific Disease geneMissense Substitution ENOX2 c.1448A>G p.E483G 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ESX1 c.578A>G p.K193R 16 Recurrent X Specific Non Disease geneMissense Substitution ESX1 c.389C>T p.A130V 2 Recurrent X Specific Non Disease gene

Silent Substitution ESX1 c.225G>A p.E75E 2 Recurrent X Specific Non Disease geneMissense Substitution F8 c.1216G>A p.A406T 1 Nonrecurrent X Specific Disease geneMissense Substitution F8 c.396A>C p.E132D 1 Nonrecurrent X Specific Disease geneMissense Substitution F8 c.6533G>A p.R2178H 1 Nonrecurrent X Specific Disease geneMissense Substitution F8 c.5059A>G p.I1687V 1 Nonrecurrent X Specific Disease geneMissense Substitution F8 c.3780C>G p.D1260E 34 Recurrent X Specific Disease gene

Silent Substitution F8 c.102C>T p.D34D 1 Nonrecurrent X Specific Disease geneSilent Substitution F8 c.3864A>C p.S1288S 10 Recurrent X Specific Disease gene

Missense Substitution F9 c.907C>T p.H303Y 1 Nonrecurrent X Specific Disease geneMissense Substitution F9 c.580A>G p.T194A 30 Recurrent X Specific Disease gene

Silent Substitution F9 c.819T>C p.V273V 2 Recurrent X Specific Disease geneMissense Substitution FAAH2 c.124C>T p.R42W 6 Recurrent X Specific Non Disease gene

Silent Substitution FAAH2 c.966G>A p.V322V 1 Nonrecurrent X Specific Non Disease geneSilent Substitution FAAH2 c.1404T>C p.P468P 17 Recurrent X Specific Non Disease geneSilent Substitution FAAH2 c.99T>C p.G33G 42 Recurrent X Specific Non Disease geneIns/Del (in frame) FAM120C c.329_330insGCCGCC p.Q112>PPQ 11 Recurrent X Specific Non Disease gene

Missense Substitution FAM120C c.1298G>A p.R433Q 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FAM120C c.882G>A p.M294I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FAM120C c.2802G>A p.M934I 2 Recurrent X Specific Non Disease gene

Silent Substitution FAM122B c.255A>G p.S85S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution FAM122B c.84A>G p.L28L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution FAM122B c.252A>G p.Q84Q 6 Recurrent X Specific Non Disease gene

Missense Substitution FAM122C c.202C>T p.P68S 2 Recurrent X Specific Non Disease geneMissense Substitution FAM123B c.742C>A p.P248T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FAM123B c.477T>G p.F159L 3 Recurrent X Specific Non Disease gene

Silent Substitution FAM123B c.135C>T p.S45S 2 Recurrent X Specific Non Disease geneMissense Substitution FAM133A c.199G>A p.E67K 12 Recurrent X Specific Non Disease gene

Silent Substitution FAM3A c.393C>T p.N131N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FAM45B c.88T>C p.W30R 7 Recurrent X Specific Non Disease geneMissense Substitution FAM46D c.555C>G p.D185E 138 Recurrent X Specific Non Disease geneMissense Substitution FAM47A c.632T>C p.L211P 2 Recurrent X Specific Non Disease geneMissense Substitution FAM47A c.1129G>T p.A377S 21 Recurrent X Specific Non Disease geneMissense Substitution FAM47B c.1256G>C p.R419P 2 Recurrent X Specific Non Disease geneMissense Substitution FAM47B c.1649C>T p.P550L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FAM47B c.544T>C p.Y182H 2 Recurrent X Specific Non Disease geneMissense Substitution FAM47B c.1861G>A p.V621I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FAM47B c.358G>C p.E120Q 20 Recurrent X Specific Non Disease geneNonsenseSubstitution FAM47B c.331C>T p.Q111* 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FAM47C c.524C>A p.P175H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FAM47C c.2942C>T p.A981V 2 Recurrent X Specific Non Disease geneMissense Substitution FAM47C c.2771A>C p.N924T 2 Recurrent X Specific Non Disease gene

Silent Substitution FAM47C c.552G>A p.G184G 2 Recurrent X Specific Non Disease geneMissense Substitution FAM50A c.410C>T p.A137V 2 Recurrent X Specific Non Disease geneMissense Substitution FAM50A c.956T>G p.F319C 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution FAM50A c.612C>T p.S204S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FAM9A c.427G>A p.A143T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FAM9A c.238G>A p.D80N 4 Recurrent X Specific Non Disease geneMissense Substitution FAM9C c.337C>T p.R113C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FANCB c.1004G>A p.G335E 8 Recurrent X Specific XLMR geneMissense Substitution FANCB c.2435A>G p.Y812C 1 Nonrecurrent X Specific XLMR gene

Silent Substitution FANCB c.2004C>T p.A668A 1 Nonrecurrent X Specific XLMR geneMissense Substitution FATE1 c.320G>A p.G107D 2 Recurrent X Specific Non Disease geneMissense Substitution FATE1 c.29C>T p.A10V 17 Recurrent X Specific Non Disease geneMissense Substitution FGD1 c.110C>T p.A37V 1 Nonrecurrent X Specific XLMR geneMissense Substitution FGD1 c.935C>T p.P312L 1 Nonrecurrent X Specific XLMR gene

Silent Substitution FGD1 c.2091T>C p.T697T 3 Recurrent X Specific XLMR geneSilent Substitution FGD1 c.2136A>G p.P712P 2 Recurrent X Specific XLMR gene

Missense Substitution FHL1 c.823G>A p.D275N 1 Nonrecurrent X Specific Non Disease geneSilent Substitution FHL1 c.441C>T p.D147D 2 Recurrent X Specific Non Disease geneSilent Substitution FIGF c.111G>A p.L37L 6 Recurrent X Specific Non Disease gene

Missense Substitution FLNA c.3814C>T p.R1272C 1 Nonrecurrent X Specific XLMR geneMissense Substitution FLNA c.2162C>T p.A721V 1 Nonrecurrent X Specific XLMR gene

Silent Substitution FLNA c.3897C>T p.N1299N 1 Nonrecurrent X Specific XLMR geneSilent Substitution FLNA c.7434G>A p.E2478E 1 Nonrecurrent X Specific XLMR geneSilent Substitution FLNA c.6642G>C p.V2214V 1 Nonrecurrent X Specific XLMR geneSilent Substitution FLNA c.5850T>C p.A1950A 17 Recurrent X Specific XLMR geneSilent Substitution FMR1 c.1857C>T p.D619D 1 Nonrecurrent X Specific XLMR geneSilent Substitution FMR1 c.414G>A p.R138R 21 Recurrent X Specific XLMR gene

Missense Substitution FMR1NB c.425C>T p.A142V 71 Recurrent X Specific Non Disease geneMissense Substitution FOXO4 c.751G>A p.D251N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FOXP3 c.100G>A p.D34N 2 Recurrent X Specific Disease gene





SiteNNSplice

ScoreSilent Substitution FOXP3 c.1221C>T p.T407T 1 Nonrecurrent X Specific Disease geneSilent Substitution FOXP3 c.543C>T p.S181S 8 Recurrent X Specific Disease gene

Missense Substitution FOXR2 c.199C>G p.P67A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FOXR2 c.857T>C p.V286A 115 Recurrent X Specific Non Disease gene

Silent Substitution FOXR2 c.42C>T p.L14L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FRMD7 c.842C>T p.S281L 9 Recurrent X Specific Non Disease geneMissense Substitution FRMD7 c.1474C>T p.P492S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FRMD7 c.1403G>A p.R468H 15 Recurrent X Specific Non Disease gene

Silent Substitution FRMD7 c.1527C>T p.S509S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution FRMD7 c.69C>T p.S23S 19 Recurrent X Specific Non Disease geneSilent Substitution FRMD7 c.1533T>C p.I511I 61 Recurrent X Specific Non Disease geneSilent Substitution FRMD7 c.1101T>C p.N367N 16 Recurrent X Specific Non Disease gene

Missense Substitution FRMPD3 c.1745G>A p.S582N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FRMPD3 c.3842C>T p.S1281L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FRMPD3 c.4322C>T p.S1441F 1 Nonrecurrent X Specific Non Disease geneMissense Substitution FRMPD3 c.74G>A p.G25E 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution FRMPD3 c.1263C>T p.C421C 1 Nonrecurrent X Specific Non Disease geneSilent Substitution FRMPD3 c.816T>C p.L272L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution FRMPD3 c.5454A>G p.Q1818Q 3 Recurrent X Specific Non Disease geneSilent Substitution FRMPD3 c.2205G>A p.E735E 2 Recurrent X Specific Non Disease geneSilent Substitution FRMPD4 c.2868C>T p.S956S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution FRMPD4 c.3937C>A p.R1313R 1 Nonrecurrent X Specific Non Disease geneSilent Substitution FRMPD4 c.438G>A p.S146S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution FRMPD4 c.1401C>G p.V467V 17 Recurrent X Specific Non Disease geneSilent Substitution FTHL17 c.141G>A p.V47V 11 Recurrent X Specific Non Disease gene

Missense Substitution FTSJ1 c.706G>A p.V236M 1 Nonrecurrent X Specific XLMR geneSilent Substitution FTSJ1 c.738G>A p.S246S 1 Nonrecurrent X Specific XLMR geneSilent Substitution FUNDC1 c.48C>T p.D16D 5 Recurrent X Specific Non Disease geneSilent Substitution FUNDC1 c.81A>C p.A27A 3 Recurrent X Specific Non Disease gene

Missense Substitution G6PD c.582C>G p.D194E 1 Nonrecurrent X Specific Disease geneMissense Substitution G6PD c.311G>A p.R104H 1 Nonrecurrent X Specific Disease geneMissense Substitution G6PD c.844G>C p.D282H 1 Nonrecurrent X Specific Disease geneMissense Substitution GAB3 c.110G>A p.R37H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GAB3 c.709C>T p.P237S 12 Recurrent X Specific Non Disease geneMissense Substitution GAB3 c.1088T>C p.L363S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GABRE c.304T>G p.S102A 96 Recurrent X Specific Non Disease gene

Silent Substitution GABRE c.579C>T p.A193A 10 Recurrent X Specific Non Disease geneSilent Substitution GABRE c.186G>A p.G62G 2 Recurrent X Specific Non Disease geneSilent Substitution GABRE c.240C>T p.A80A 14 Recurrent X Specific Non Disease gene

Missense Substitution GABRQ c.805C>T p.L269F 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GABRQ c.1432T>A p.F478I 63 Recurrent X Specific Non Disease gene

Silent Substitution GABRQ c.660C>T p.N220N 1 Nonrecurrent X Specific Non Disease geneSilent Substitution GABRQ c.1464C>T p.A488A 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution GDPD2 c.7G>A p.E3K 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GDPD2 c.1483G>A p.V495I 2 Recurrent X Specific Non Disease gene

Silent Substitution GDPD2 c.792T>C p.D264D 15 Recurrent X Specific Non Disease geneMissense Substitution GEMIN8 c.91G>T p.A31S 2 Recurrent X Specific Non Disease gene

Silent Substitution GK c.165G>A p.Q55Q 22 Recurrent X Specific XLMR geneMissense Substitution GLA c.937G>T p.D313Y 2 Recurrent X Specific Disease geneMissense Substitution GLOD5 c.511A>G p.K171E 2 Recurrent X Specific Non Disease geneMissense Substitution GLOD5 c.55G>A p.G19R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GLOD5 c.76G>A p.A26T 35 Recurrent X Specific Non Disease geneMissense Substitution GLRA2 c.1261A>G p.I421V 2 Recurrent X Specific Non Disease gene

Silent Substitution GLRA2 c.747T>C p.H249H 65 Recurrent X Specific Non Disease geneMissense Substitution GLRA4 c.313C>T p.P105S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GLRA4 c.253A>G p.I85V 165 Recurrent X Specific Non Disease geneMissense Substitution GLRA4 c.432G>C p.E144D 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution GLRA4 c.555C>G p.T185T 51 Recurrent X Specific Non Disease geneMissense Substitution GLUD2 c.1492T>G p.S498A 6 Recurrent X Specific Non Disease gene

Ins/Del (in frame) GNL3L c.177_179delAAA p.K62_W63>W 3 Recurrent X Specific Non Disease geneMissense Substitution GNL3L c.1145A>C p.E382A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GNL3L c.1255A>G p.K419E 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GNL3L c.1106G>A p.R369H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GNL3L c.1501G>T p.A501S 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution GNL3L c.1563C>T p.D521D 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GPC4 c.1276G>T p.G426W 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GPC4 c.1173G>T p.E391D 54 Recurrent X Specific Non Disease geneMissense Substitution GPC4 c.1325C>T p.A442V 47 Recurrent X Specific Non Disease geneMissense Substitution GPKOW c.385G>A p.A129T 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution GPKOW c.366G>A p.A122A 1 Nonrecurrent X Specific Non Disease geneSilent Substitution GPM6B c.105C>T p.Y35Y 2 Recurrent X Specific Non Disease gene

Missense Substitution GPR101 c.1127T>C p.L376P 21 Recurrent X Specific Non Disease geneMissense Substitution GPR101 c.476C>T p.A159V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GPR101 c.370G>T p.V124L 96 Recurrent X Specific Non Disease gene

Silent Substitution GPR101 c.735G>A p.E245E 1 Nonrecurrent X Specific Non Disease geneSilent Substitution GPR101 c.1224T>C p.Y408Y 1 Nonrecurrent X Specific Non Disease geneIns/Del (in frame) GPR112 c.7969_7971delGAT p.D2657_M2658>M 125 Recurrent X Specific Non Disease gene

Missense Substitution GPR112 c.4639T>A p.C1547S 2 Recurrent X Specific Non Disease geneMissense Substitution GPR112 c.9045C>A p.S3015R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GPR112 c.1103C>A p.P368H 86 Recurrent X Specific Non Disease geneMissense Substitution GPR112 c.325T>C p.S109P 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GPR112 c.4618T>C p.S1540P 97 Recurrent X Specific Non Disease geneMissense Substitution GPR112 c.3697T>C p.S1233P 3 Recurrent X Specific Non Disease geneMissense Substitution GPR112 c.3638C>A p.T1213N 84 Recurrent X Specific Non Disease gene





SiteNNSplice

ScoreMissense Substitution GPR112 c.7211C>G p.T2404S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GPR112 c.3610A>T p.T1204S 2 Recurrent X Specific Non Disease geneMissense Substitution GPR112 c.5182A>C p.T1728P 9 Recurrent X Specific Non Disease geneMissense Substitution GPR112 c.1963A>G p.I655V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GPR112 c.5371T>C p.F1791L 97 Recurrent X Specific Non Disease geneMissense Substitution GPR112 c.828A>G p.I276M 58 Recurrent X Specific Non Disease geneMissense Substitution GPR112 c.2209G>T p.A737S 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution GPR112 c.5517A>G p.S1839S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution GPR112 c.7938C>T p.T2646T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution GPR112 c.3252G>A p.L1084L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution GPR112 c.5493C>T p.P1831P 97 Recurrent X Specific Non Disease geneSilent Substitution GPR112 c.7941C>A p.T2647T 124 Recurrent X Specific Non Disease geneSilent Substitution GPR112 c.8271T>C p.F2757F 118 Recurrent X Specific Non Disease geneSilent Substitution GPR112 c.9117G>A p.T3039T 123 Recurrent X Specific Non Disease geneSilent Substitution GPR112 c.4179T>C p.T1393T 94 Recurrent X Specific Non Disease geneSilent Substitution GPR112 c.4938C>G p.L1646L 7 Recurrent X Specific Non Disease gene

Missense Substitution GPR119 c.659A>T p.D220V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GPR119 c.706C>G p.L236V 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution GPR173 c.1062C>T p.H354H 30 Recurrent X Specific Non Disease geneSilent Substitution GPR173 c.87G>A p.L29L 23 Recurrent X Specific Non Disease gene

Missense Substitution GPR174 c.752C>T p.P251L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GPR174 c.484T>C p.S162P 101 Recurrent X Specific Non Disease geneMissense Substitution GPR174 c.263C>A p.P88H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GPR23 c.133G>A p.V45I 1 Nonrecurrent X Specific Non Disease gene

Ins/Del (in frame) GPR50 05_1516delCCACTGGCCACA p.T502_I5 79 Recurrent X Specific Non Disease geneMissense Substitution GPR50 c.1478G>A p.S493N 11 Recurrent X Specific Non Disease geneMissense Substitution GPR50 c.1505C>T p.T502I 2 Recurrent X Specific Non Disease geneMissense Substitution GPR50 c.1262T>C p.V421A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GPR50 c.1594A>G p.T532A 78 Recurrent X Specific Non Disease geneMissense Substitution GPR50 c.1816A>G p.I606V 97 Recurrent X Specific Non Disease gene

Silent Substitution GPR50 c.1269C>T p.G423G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution GPR50 c.555C>T p.N185N 2 Recurrent X Specific Non Disease geneSilent Substitution GPR50 c.1689G>A p.S563S 2 Recurrent X Specific Non Disease geneSilent Substitution GPR64 c.2007G>C p.L669L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution GPR64 c.1605G>A p.S535S 3 Recurrent X Specific Non Disease geneSilent Substitution GPR82 c.939T>C p.D313D 24 Recurrent X Specific Non Disease gene

Missense Substitution GPRASP1 c.3277C>T p.P1093S 2 Recurrent X Specific Non Disease geneMissense Substitution GPRASP1 c.944C>G p.A315G 12 Recurrent X Specific Non Disease gene

Silent Substitution GPRASP1 c.3840G>A p.G1280G 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GPRASP2 c.519A>C p.R173S 2 Recurrent X Specific Non Disease geneMissense Substitution GPRASP2 c.326G>A p.R109H 2 Recurrent X Specific Non Disease gene

Silent Substitution GPRASP2 c.2163C>T p.S721S 2 Recurrent X Specific Non Disease geneMissense Substitution GRIA3 c.2117T>C p.M706T 1 Nonrecurrent X Specific XLMR gene

Silent Substitution GRIA3 c.1200T>C p.N400N 110 Recurrent X Specific XLMR geneMissense Substitution GRIPAP1 c.662A>C p.E221A 3 Recurrent X Specific Non Disease geneMissense Substitution GRIPAP1 c.1394G>A p.R465Q 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution GRIPAP1 c.1242C>T p.S414S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution GRIPAP1 c.591C>T p.H197H 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution GRPR c.691T>C p.Y231H 1 Nonrecurrent X Specific Non Disease geneSilent Substitution GRPR c.720T>C p.S240S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution GRPR c.663T>C p.I221I 49 Recurrent X Specific Non Disease geneSilent Substitution GRPR c.453T>C p.S151S 37 Recurrent X Specific Non Disease gene

Missense Substitution SPANXN2 c.125A>C p.N42T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GSPT2 c.793A>G p.K265E 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GSPT2 c.1186G>A p.A396T 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution GSPT2 c.919T>C p.L307L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GTPBP6 c.167C>T p.P56L 12 Recurrent PAR Non Disease geneMissense Substitution GTPBP6 c.110A>G p.E37G 2 Recurrent PAR Non Disease geneMissense Substitution GTPBP6 c.373C>G p.L125V 1 Nonrecurrent PAR Non Disease geneMissense Substitution GTPBP6 c.317G>A p.R106H 1 Nonrecurrent PAR Non Disease geneMissense Substitution GTPBP6 c.583C>G p.R195G 1 Nonrecurrent PAR Non Disease gene

Silent Substitution GTPBP6 c.324C>T p.H108H 1 Nonrecurrent PAR Non Disease geneNonsenseSubstitution GTPBP6 c.118C>T p.Q40* 81 Recurrent PAR Non Disease geneMissense Substitution GUCY2F c.2380G>A p.E794K 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GUCY2F c.1883G>A p.R628Q 4 Recurrent X Specific Non Disease geneMissense Substitution GUCY2F c.2029G>C p.V677L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GUCY2F c.688C>T p.R230W 2 Recurrent X Specific Non Disease geneMissense Substitution GUCY2F c.479T>A p.I160N 2 Recurrent X Specific Non Disease geneMissense Substitution GUCY2F c.851T>C p.L284P 3 Recurrent X Specific Non Disease geneMissense Substitution GUCY2F c.887G>A p.R296Q 8 Recurrent X Specific Non Disease gene

Silent Substitution GUCY2F c.2050C>T p.L684L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution GYG2 c.1117C>T p.R373C 3 Recurrent X Specific Non Disease geneMissense Substitution GYG2 c.938A>G p.H313R 139 Recurrent X Specific Non Disease geneMissense Substitution GYG2 c.809C>T p.A270V 145 Recurrent X Specific Non Disease geneMissense Substitution GYG2 c.19C>T p.H7Y 25 Recurrent X Specific Non Disease gene

Silent Substitution GYG2 c.651G>A p.P217P 1 Nonrecurrent X Specific Non Disease geneMissense Substitution H2BFWT c.259C>T p.R87W 6 Recurrent X Specific Non Disease geneIns/Del (out of frame) H2BFWT c.510delA p.Q171fs*5 2 Recurrent X Specific Non Disease geneMissense Substitution HCCS c.215C>T p.A72V 6 Recurrent X Specific XLMR geneMissense Substitution HCFC1 c.2033C>T p.S678L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution HCFC1 c.2299G>A p.A767T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution HCFC1 c.4954T>C p.S1652P 4 Recurrent X Specific Non Disease gene

Silent Substitution HCFC1 c.420C>G p.T140T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution HCFC1 c.5106C>A p.P1702P 1 Nonrecurrent X Specific Non Disease gene





SiteNNSplice

ScoreSilent Substitution HCFC1 c.5199G>A p.L1733L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution HCFC1 c.1992C>G p.T664T 22 Recurrent X Specific Non Disease geneSilent Substitution HCFC1 c.3894G>A p.A1298A 29 Recurrent X Specific Non Disease geneSilent Substitution HCFC1 c.5568C>T p.C1856C 100 Recurrent X Specific Non Disease geneSilent Substitution HCFC1 c.1818G>A p.T606T 3 Recurrent X Specific Non Disease geneSilent Substitution HCFC1 c.4251G>T p.L1417L 19 Recurrent X Specific Non Disease gene

Splice HCFC1 c.5088+2T>C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution HDAC6 c.3248G>A p.G1083D 2 Recurrent X Specific Non Disease geneMissense Substitution HDAC6 c.494G>A p.R165H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution HDAC6 c.2495G>A p.R832H 3 Recurrent X Specific Non Disease geneMissense Substitution HDAC6 c.3598A>G p.N1200D 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution HDAC8 c.957C>T p.T319T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution HDAC8 c.159G>A p.Q53Q 4 Recurrent X Specific Non Disease gene

Missense Substitution HDHD1A c.221C>T p.T74M 41 Recurrent X Specific Non Disease geneMissense Substitution HDHD1A c.227C>T p.A76V 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution HDHD1A c.291G>A p.L97L 46 Recurrent X Specific Non Disease geneSilent Substitution HDHD1A c.312G>A p.A104A 46 Recurrent X Specific Non Disease geneSilent Substitution HDHD1A c.414G>A p.P138P 88 Recurrent X Specific Non Disease geneSilent Substitution HDHD1A c.315G>A p.S105S 4 Recurrent X Specific Non Disease gene

Missense Substitution HEPH c.1531C>T p.P511S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution HEPH c.1783G>A p.A595T 8 Recurrent X Specific Non Disease geneMissense Substitution HEPH c.3247G>T p.V1083L 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution HEPH c.3042C>T p.G1014G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution HEPH c.96C>A p.I32I 1 Nonrecurrent X Specific Non Disease geneSilent Substitution HEPH c.1068C>A p.G356G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution HEPH c.2379A>G p.T793T 43 Recurrent X Specific Non Disease geneSilent Substitution HEPH c.2295T>C p.Y765Y 44 Recurrent X Specific Non Disease gene

Missense Substitution HNRPH2 c.769T>A p.S257T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution HNRPH2 c.1320C>T p.N440N 5 Recurrent X Specific Non Disease gene

Missense Substitution HS6ST2 c.1090G>T p.A364S 3 Recurrent X Specific Non Disease geneMissense Substitution HS6ST2 c.973G>A p.E325K 6 Recurrent X Specific Non Disease gene

Silent Substitution HSD17B10 c.574C>A p.R192R 1 Nonrecurrent X Specific XLMR geneMissense Substitution HTATSF1 c.251G>A p.S84N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution HTATSF1 c.1433G>C p.G478A 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution HTATSF1 c.1725C>T p.D575D 20 Recurrent X Specific Non Disease geneMissense Substitution HTR2C c.68G>C p.C23S 19 Recurrent X Specific Non Disease gene

Silent Substitution HTR2C c.717C>T p.Y239Y 1 Nonrecurrent X Specific Non Disease geneMissense Substitution HUWE1 c.12229C>T p.R4077C 1 Nonrecurrent X Specific XLMR geneMissense Substitution HUWE1 c.11707C>T p.R3903W 1 Nonrecurrent X Specific XLMR geneMissense Substitution HUWE1 c.8612G>A p.R2871H 1 Nonrecurrent X Specific XLMR geneMissense Substitution HUWE1 c.1448A>G p.N483S 3 Recurrent X Specific XLMR geneMissense Substitution HUWE1 c.10358G>A p.G3453D 1 Nonrecurrent X Specific XLMR geneMissense Substitution HUWE1 c.6758T>G p.L2253R 1 Nonrecurrent X Specific XLMR gene

Silent Substitution HUWE1 c.2655C>T p.L885L 1 Nonrecurrent X Specific XLMR geneSilent Substitution HUWE1 c.10377T>C p.F3459F 2 Recurrent X Specific XLMR geneSilent Substitution HUWE1 c.2109A>G p.S703S 97 Recurrent X Specific XLMR geneSilent Substitution HUWE1 c.9771G>A p.R3257R 2 Recurrent X Specific XLMR geneSilent Substitution HUWE1 c.4680A>G p.G1560G 1 Nonrecurrent X Specific XLMR gene

Missense Substitution IDS c.727C>T p.P243S 1 Nonrecurrent X Specific XLMR geneMissense Substitution IDS c.1144G>C p.D382H 1 Nonrecurrent X Specific XLMR geneMissense Substitution IDS c.263G>A p.R88H 1 Nonrecurrent X Specific XLMR gene

Silent Substitution IDS c.438C>T p.T146T 62 Recurrent X Specific XLMR geneMissense Substitution IGBP1 c.214G>C p.A72P 1 Nonrecurrent X Specific XLMR geneMissense Substitution IGBP1 c.608T>C p.I203T 1 Nonrecurrent X Specific XLMR gene

Silent Substitution IGBP1 c.597G>A p.R199R 1 Nonrecurrent X Specific XLMR geneMissense Substitution IGSF1 c.2939T>C p.V980A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution IGSF1 c.498G>C p.E166D 1 Nonrecurrent X Specific Non Disease geneMissense Substitution IGSF1 c.765G>A p.M255I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution IGSF1 c.3228G>C p.M1076I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution IGSF1 c.1184T>G p.L395R 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution IGSF1 c.732G>A p.L244L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution IGSF1 c.1347A>G p.E449E 55 Recurrent X Specific Non Disease geneSilent Substitution IGSF1 c.2556T>C p.Y852Y 58 Recurrent X Specific Non Disease gene

Missense Substitution IKBKG c.337G>A p.D113N 2 Recurrent X Specific XLMR geneSilent Substitution IL13RA1 c.1050C>T p.L350L 6 Recurrent X Specific Non Disease gene

Missense Substitution IL13RA2 c.331T>C p.W111R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution IL13RA2 c.827T>C p.I276T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution IL1RAPL1 c.91T>C p.C31R 1 Nonrecurrent X Specific XLMR gene

Silent Substitution IL1RAPL1 c.36C>T p.Y12Y 1 Nonrecurrent X Specific XLMR geneSilent Substitution IL1RAPL1 c.1605G>T p.T535T 1 Nonrecurrent X Specific XLMR gene

Missense Substitution IL1RAPL2 c.317C>T p.A106V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution IL1RAPL2 c.1916A>G p.H639R 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution IL1RAPL2 c.1059T>C p.Y353Y 19 Recurrent X Specific Non Disease geneMissense Substitution IL2RG c.1105A>G p.T369A 1 Nonrecurrent X Specific Disease geneNonsenseSubstitution IL9R c.58C>T p.R20* 1 Nonrecurrent PAR Non Disease geneMissense Substitution INE1 c.34C>T p.P12S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution IQSEC2 c.2578C>T p.R860W 1 Nonrecurrent X Specific Non Disease geneMissense Substitution IQSEC2 c.2264G>A p.R755Q 1 Nonrecurrent X Specific Non Disease geneMissense Substitution IQSEC2 c.2393A>C p.Q798P 1 Nonrecurrent X Specific Non Disease geneMissense Substitution IRAK1 c.1874C>T p.T625M 4 Recurrent X Specific Non Disease geneMissense Substitution IRAK1 c.1595C>T p.S532L 163 Recurrent X Specific Non Disease gene

Silent Substitution IRAK1 c.585C>T p.P195P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution IRAK1 c.483C>T p.V161V 162 Recurrent X Specific Non Disease gene

Missense Substitution IRS4 c.2635C>G p.H879D 36 Recurrent X Specific Non Disease gene





SiteNNSplice

ScoreMissense Substitution IRS4 c.3620C>T p.A1207V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution IRS4 c.1232GA>AT p.R411H 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution IRS4 c.1353C>T p.N451N 1 Nonrecurrent X Specific Non Disease geneSilent Substitution IRS4 c.3663G>A p.R1221R 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution ITIH5L c.3122G>C p.W1041S 22 Recurrent X Specific Non Disease geneMissense Substitution ITIH5L c.2104T>A p.Y702N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ITIH5L c.1159G>C p.G387R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ITIH5L c.1288G>C p.G430R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ITIH5L c.3163A>G p.S1055G 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ITIH5L c.1739G>A p.R580H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ITIH5L c.2261C>T p.T754M 3 Recurrent X Specific Non Disease gene

Silent Substitution ITIH5L c.1995A>G p.K665K 1 Nonrecurrent X Specific Non Disease geneNonsenseSubstitution ITIH5L c.670C>T p.R224* 1 Nonrecurrent X Specific Non Disease gene

Splice ITIH5L c.1075+1insT 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ITM2A c.215C>T p.A72V 5 Recurrent X Specific Non Disease gene

Silent Substitution ITM2A c.606G>A p.V202V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution JARID1C c.2138C>T p.T713M 1 Nonrecurrent X Specific XLMR geneMissense Substitution JARID1C c.4637G>A p.R1546Q 1 Nonrecurrent X Specific XLMR gene

Silent Substitution JARID1C c.1764G>A p.Q588Q 1 Nonrecurrent X Specific XLMR geneSilent Substitution JARID1C c.564G>A p.K188K 1 Nonrecurrent X Specific XLMR gene

Missense Substitution KAL1 c.1759G>T p.V587L 1 Nonrecurrent X Specific Disease geneMissense Substitution KAL1 c.1532C>A p.S511Y 1 Nonrecurrent X Specific Disease geneMissense Substitution KAL1 c.1600G>A p.V534I 92 Recurrent X Specific Disease gene

Silent Substitution KAL1 c.1833C>T p.I611I 100 Recurrent X Specific Disease geneMissense Substitution KCND1 c.1396C>G p.L466V 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution KCND1 c.1164C>T p.F388F 1 Nonrecurrent X Specific Non Disease geneMissense Substitution KIAA1166 c.637C>T p.R213W 1 Nonrecurrent X Specific Non Disease geneMissense Substitution KIAA2022 c.3812T>C p.M1271T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution KIAA2022 c.2801A>G p.N934S 2 Recurrent X Specific Non Disease geneMissense Substitution KIAA2022 c.133G>A p.A45T 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution KIAA2022 c.2598C>A p.S866S 2 Recurrent X Specific Non Disease geneMissense Substitution KIF4A c.1322C>T p.A441V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution KIF4A c.1265T>G p.L422W 8 Recurrent X Specific Non Disease geneMissense Substitution KIF4A c.2079C>A p.F693L 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution KIF4A c.987T>C p.Y329Y 5 Recurrent X Specific Non Disease geneSilent Substitution KIF4A c.273C>T p.G91G 2 Recurrent X Specific Non Disease geneSilent Substitution KIF4A c.1656C>T p.P552P 7 Recurrent X Specific Non Disease geneSilent Substitution KIF4A c.969A>G p.T323T 4 Recurrent X Specific Non Disease geneIns/Del (in frame) KLHL15 c.716_721delCAGAAT p.S239_F241>F 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution KLHL4 c.211C>A p.H71N 1 Nonrecurrent X Specific Non Disease geneSilent Substitution KLHL4 c.1062G>T p.G354G 38 Recurrent X Specific Non Disease geneSilent Substitution KLHL4 c.1359C>T p.T453T 140 Recurrent X Specific Non Disease gene

Missense Substitution L1CAM c.2302G>A p.V768I 2 Recurrent X Specific XLMR geneMissense Substitution L1CAM c.2583C>G p.H861Q 1 Nonrecurrent X Specific XLMR geneMissense Substitution L1CAM c.3370A>T p.I1124F 1 Nonrecurrent X Specific XLMR geneMissense Substitution L1CAM c.1319A>G p.Q440R 1 Nonrecurrent X Specific XLMR geneMissense Substitution LAMP2 c.1171G>A p.V391I 1 Nonrecurrent X Specific XLMR geneMissense Substitution LAMP2 c.299C>T p.A100V 1 Nonrecurrent X Specific XLMR gene

Silent Substitution LAMP2 c.519A>G p.V173V 1 Nonrecurrent X Specific XLMR geneSilent Substitution LAMP2 c.156A>T p.V52V 78 Recurrent X Specific XLMR gene

Missense Substitution LANCL3 c.1142T>C p.L381P 13 Recurrent X Specific Non Disease geneSilent Substitution LANCL3 c.789C>T p.S263S 33 Recurrent X Specific Non Disease geneSilent Substitution LANCL3 c.717G>A p.S239S 4 Recurrent X Specific Non Disease gene

Missense Substitution LAS1L c.806C>G p.A269G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution LHFPL1 c.375T>C p.F125F 12 Recurrent X Specific Non Disease geneSilent Substitution PRICKLE3 c.1251G>A p.A417A 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PRICKLE3 c.1662C>T p.S554S 14 Recurrent X Specific Non Disease gene

Missense Substitution LONRF3 c.569G>C p.R190P 1 Nonrecurrent X Specific Non Disease geneMissense Substitution LONRF3 c.365C>G p.A122G 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution LONRF3 c.1428C>T p.Y476Y 1 Nonrecurrent X Specific Non Disease geneSilent Substitution LONRF3 c.924G>A p.P308P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution LONRF3 c.1911A>G p.A637A 74 Recurrent X Specific Non Disease geneSilent Substitution LONRF3 c.846T>C p.N282N 5 Recurrent X Specific Non Disease geneSilent Substitution LONRF3 c.42T>C p.A14A 11 Recurrent X Specific Non Disease gene

Missense Substitution LRCH2 c.2092C>T p.P698S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution LRCH2 c.781G>A p.E261K 3 Recurrent X Specific Non Disease geneMissense Substitution LRCH2 c.1628C>T p.S543F 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution LRCH2 c.687G>A p.E229E 1 Nonrecurrent X Specific Non Disease geneSilent Substitution LRCH2 c.1923T>C p.H641H 1 Nonrecurrent X Specific Non Disease geneSilent Substitution LUZP4 c.618C>T p.G206G 4 Recurrent X Specific Non Disease geneSilent Substitution LUZP4 c.603T>A p.S201S 8 Recurrent X Specific Non Disease geneSilent Substitution LUZP4 c.597T>C p.G199G 7 Recurrent X Specific Non Disease geneSilent Substitution LUZP4 c.537G>A p.Q179Q 2 Recurrent X Specific Non Disease gene

Missense Substitution MAGEA1 c.187G>A p.A63T 4 Recurrent X Specific Non Disease geneMissense Substitution MAGEA1 c.215G>A p.R72Q 13 Recurrent X Specific Non Disease geneMissense Substitution MAGEA1 c.94A>G p.T32A 41 Recurrent X Specific Non Disease gene

Silent Substitution MAGEA1 c.354A>T p.R118R 2 Recurrent X Specific Non Disease geneSilent Substitution MAGEA11 c.747C>T p.L249L 99 Recurrent X Specific Non Disease geneSilent Substitution MAGEA12 c.807C>T p.Y269Y 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEA12 c.888A>G p.G296G 71 Recurrent X Specific Non Disease gene

Missense Substitution MAGEA3 c.923T>C p.V308A 38 Recurrent X Specific Non Disease geneMissense Substitution MAGEA3 c.835G>A p.V279I 35 Recurrent X Specific Non Disease geneMissense Substitution MAGEA3 c.927G>T p.L309F 2 Recurrent X Specific Non Disease geneMissense Substitution MAGEA4 c.122C>T p.S41F 1 Nonrecurrent X Specific Non Disease gene





SiteNNSplice

ScoreMissense Substitution MAGEA4 c.806G>A p.R269H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEA4 c.517G>A p.A173T 99 Recurrent X Specific Non Disease gene

Silent Substitution MAGEA4 c.84A>G p.A28A 102 Recurrent X Specific Non Disease geneSilent Substitution MAGEA4 c.648C>T p.S216S 9 Recurrent X Specific Non Disease gene

Missense Substitution MAGEA5 c.170G>A p.G57E 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEA5 c.185T>C p.L62P 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEA5 c.175C>G p.P59A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEA5 c.187A>C p.K63Q 3 Recurrent X Specific Non Disease geneMissense Substitution MAGEA5 c.46C>G p.L16V 2 Recurrent X Specific Non Disease geneMissense Substitution MAGEA5 c.83T>C p.V28A 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution MAGEA5 c.12G>A p.E4E 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEA5 c.141A>T p.P47P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEA5 c.156G>A p.E52E 4 Recurrent X Specific Non Disease geneSilent Substitution MAGEA5 c.207C>T p.S69S 2 Recurrent X Specific Non Disease geneSilent Substitution MAGEA8 c.918C>T p.S306S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEA8 c.681A>G p.A227A 129 Recurrent X Specific Non Disease geneSilent Substitution MAGEA8 c.849A>G p.E283E 2 Recurrent X Specific Non Disease gene

Missense Substitution MAGEB1 c.799C>T p.R267C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEB1 c.589A>G p.R197G 3 Recurrent X Specific Non Disease geneMissense Substitution MAGEB18 c.194A>G p.Q65R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEB18 c.118C>T p.P40S 21 Recurrent X Specific Non Disease gene

Silent Substitution MAGEB18 c.930G>A p.E310E 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEB18 c.690C>T p.A230A 20 Recurrent X Specific Non Disease gene

Missense Substitution MAGEB2 c.118T>A p.C40S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEB2 c.181G>A p.E61K 185 Recurrent X Specific Non Disease geneMissense Substitution MAGEB2 c.698A>T p.Y233F 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution MAGEB2 c.820C>T p.L274L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEB2 c.216G>A p.A72A 59 Recurrent X Specific Non Disease geneSilent Substitution MAGEB2 c.306C>T p.S102S 74 Recurrent X Specific Non Disease gene

Missense Substitution MAGEB3 c.320G>A p.R107H 58 Recurrent X Specific Non Disease geneMissense Substitution MAGEB3 c.335T>C p.I112T 138 Recurrent X Specific Non Disease gene

Silent Substitution MAGEB3 c.489A>G p.V163V 56 Recurrent X Specific Non Disease geneMissense Substitution MAGEB4 c.653A>C p.E218A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEB4 c.83G>A p.G28D 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution MAGEB4 c.354G>A p.Q118Q 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEB4 c.906G>C p.L302L 49 Recurrent X Specific Non Disease geneSilent Substitution MAGEB4 c.750A>G p.V250V 49 Recurrent X Specific Non Disease gene

Missense Substitution MAGEB5 c.319T>C p.Y107H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEB6 c.514G>C p.G172R 3 Recurrent X Specific Non Disease geneMissense Substitution MAGEB6 c.1187T>C p.I396T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEB6 c.1162C>T p.P388S 3 Recurrent X Specific Non Disease geneMissense Substitution MAGEB6 c.299C>T p.A100V 9 Recurrent X Specific Non Disease geneMissense Substitution MAGEB6 c.293G>A p.R98H 5 Recurrent X Specific Non Disease gene

Silent Substitution MAGEB6 c.219T>C p.P73P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEB6 c.339C>G p.G113G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEB6 c.138C>T p.R46R 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEB6 c.774C>T p.S258S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEB6 c.342T>G p.S114S 9 Recurrent X Specific Non Disease geneSilent Substitution MAGEB6 c.288C>T p.T96T 17 Recurrent X Specific Non Disease gene

Missense Substitution MAGEC1 c.2522G>T p.S841I 4 Recurrent X Specific Non Disease geneMissense Substitution MAGEC1 c.2749C>T p.R917W 5 Recurrent X Specific Non Disease geneMissense Substitution MAGEC1 c.1697A>G p.Q566R 6 Recurrent X Specific Non Disease geneMissense Substitution MAGEC1 c.3086G>A p.R1029H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEC1 c.74G>A p.C25Y 29 Recurrent X Specific Non Disease gene

Silent Substitution MAGEC1 c.267C>T p.G89G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEC1 c.1629G>A p.L543L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEC1 c.3174G>A p.E1058E 23 Recurrent X Specific Non Disease geneIns/Del (in frame) MAGEC2 c.40_42delAAC p.N14_D15>D 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution MAGEC2 c.824C>G p.T275S 2 Recurrent X Specific Non Disease geneSilent Substitution MAGEC2 c.909G>A p.P303P 139 Recurrent X Specific Non Disease gene

Missense Substitution MAGEC3 c.419A>T p.D140V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEC3 c.1699G>T p.V567F 2 Recurrent X Specific Non Disease geneMissense Substitution MAGEC3 c.463T>C p.S155P 13 Recurrent X Specific Non Disease geneMissense Substitution MAGEC3 c.493T>A p.L165M 11 Recurrent X Specific Non Disease geneMissense Substitution MAGED1 c.1081C>T p.P361S 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution MAGED1 c.2197C>T p.L733L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGED1 c.2227C>A p.R743R 34 Recurrent X Specific Non Disease geneSilent Substitution MAGED2 c.624C>T p.A208A 48 Recurrent X Specific Non Disease geneSilent Substitution MAGED2 c.396A>G p.T132T 68 Recurrent X Specific Non Disease geneSilent Substitution MAGED2 c.252A>G p.S84S 68 Recurrent X Specific Non Disease geneSilent Substitution MAGED2 c.1443G>A p.A481A 27 Recurrent X Specific Non Disease geneSilent Substitution MAGED2 c.981C>T p.S327S 68 Recurrent X Specific Non Disease gene

Missense Substitution MAGEE1 c.913A>T p.S305C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEE1 c.1017G>C p.E339D 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution MAGEE1 c.2499T>C p.P833P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAGEE1 c.228A>C p.P76P 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution MAGEE2 c.562C>A p.L188I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEE2 c.176C>A p.S59Y 1 Nonrecurrent X Specific Non Disease geneNonsenseSubstitution MAGEE2 c.358G>T p.E120* 9 Recurrent X Specific Non Disease geneMissense Substitution MAGEH1 c.206C>T p.S69L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEH1 c.62A>C p.N21T 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution MAGEH1 c.492G>A p.G164G 45 Recurrent X Specific Non Disease geneSilent Substitution MAOA c.891G>T p.R297R 101 Recurrent X Specific XLMR geneSilent Substitution MAOA c.1410T>C p.D470D 64 Recurrent X Specific XLMR gene





SiteNNSplice

ScoreSilent Substitution MAOA c.385A>C p.R129R 10 Recurrent X Specific XLMR gene

Missense Substitution MAOB c.326C>T p.P109L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAOB c.402A>G p.P134P 2 Recurrent X Specific Non Disease gene

Missense Substitution MAP3K15 c.1559T>C p.V520A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAP3K15 c.2331G>C p.R777S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAP3K15 c.2176C>G p.Q726E 2 Recurrent X Specific Non Disease geneNonsenseSubstitution MAP3K15 c.1069C>T p.R357* 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution MAP3K7IP3 c.90G>A p.Q30Q 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAP7D2 c.545A>G p.N182S 41 Recurrent X Specific Non Disease gene

Silent Substitution MAP7D2 c.864A>G p.P288P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAP7D2 c.2127C>T p.D709D 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAP7D2 c.1062G>T p.P354P 2 Recurrent X Specific Non Disease gene

Missense Substitution MAP7D3 c.1763C>T p.P588L 2 Recurrent X Specific Non Disease geneMissense Substitution MAP7D3 c.2156C>T p.A719V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAP7D3 c.3014G>A p.R1005Q 2 Recurrent X Specific Non Disease geneMissense Substitution MAP7D3 c.1728G>A p.M576I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAP7D3 c.2774A>G p.Q925R 96 Recurrent X Specific Non Disease geneMissense Substitution MAP7D3 c.449C>G p.S150C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAP7D3 c.2396A>C p.E799A 83 Recurrent X Specific Non Disease gene

Silent Substitution MAP7D3 c.468C>T p.I156I 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MAP7D3 c.1758G>A p.E586E 10 Recurrent X Specific Non Disease geneSilent Substitution MAP7D3 c.387T>C p.F129F 2 Recurrent X Specific Non Disease geneSilent Substitution MAP7D3 c.360G>A p.E120E 30 Recurrent X Specific Non Disease gene

Splice MAP7D3 c.2432+1G>C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MBNL3 c.364T>G p.S122A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MCF2 c.1780A>G p.N594D 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MCF2 c.1004G>A p.R335H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MCF2 c.1705C>T p.H569Y 9 Recurrent X Specific Non Disease gene

Silent Substitution MCF2 c.2241C>T p.D747D 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MCF2 c.1962A>T p.G654G 112 Recurrent X Specific Non Disease geneSilent Substitution MECP2 c.582C>T p.S194S 2 Recurrent X Specific XLMR geneSilent Substitution MECP2 c.897C>T p.T299T 2 Recurrent X Specific XLMR gene

Missense Substitution MED12 c.4C>T p.R2W 1 Nonrecurrent X Specific XLMR geneMissense Substitution MED12 c.3425G>A p.R1142H 1 Nonrecurrent X Specific XLMR geneMissense Substitution MED12 c.2561A>G p.N854S 1 Nonrecurrent X Specific XLMR gene

Silent Substitution MED12 c.3471A>C p.P1157P 54 Recurrent X Specific XLMR geneSilent Substitution MED12 c.5076C>T p.N1692N 2 Recurrent X Specific XLMR gene

Missense Substitution CT45A5 c.374A>T p.D125V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CT45A5 c.290A>T p.N97I 3 Recurrent X Specific Non Disease geneMissense Substitution CT45A5 c.247G>A p.G83R 6 Recurrent X Specific Non Disease geneMissense Substitution CT45A5 c.311G>A p.G104E 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CT45A5 c.254T>G p.M85R 5 Recurrent X Specific Non Disease geneMissense Substitution CT45A5 c.184C>G p.H62D 16 Recurrent X Specific Non Disease geneMissense Substitution CT45A5 c.262C>T p.P88S 6 Recurrent X Specific Non Disease geneMissense Substitution CT45A5 c.188C>G p.A63G 12 Recurrent X Specific Non Disease geneMissense Substitution CT45A5 c.302A>G p.N101S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CT45A5 c.272A>G p.N91S 5 Recurrent X Specific Non Disease geneMissense Substitution CT45A5 c.416G>A p.R139Q 1 Nonrecurrent X Specific Non Disease geneMissense Substitution CT45A5 c.388G>T p.V130L 11 Recurrent X Specific Non Disease geneMissense Substitution CT45A5 c.358C>G p.Q120E 10 Recurrent X Specific Non Disease geneMissense Substitution CT45A5 c.409C>A p.L137I 9 Recurrent X Specific Non Disease gene

Silent Substitution CT45A5 c.291T>C p.N97N 136 Recurrent X Specific Non Disease geneSilent Substitution MID1 c.1917C>T p.P639P 1 Nonrecurrent X Specific XLMR geneSilent Substitution MID1 c.1230C>T p.S410S 3 Recurrent X Specific XLMR gene

Missense Substitution MID2 c.1073C>A p.A358D 9 Recurrent X Specific Non Disease geneMissense Substitution MID2 c.1769A>C p.K590T 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution MID2 c.120A>C p.S40S 7 Recurrent X Specific Non Disease geneMissense Substitution MORC4 c.508G>A p.V170M 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MORC4 c.1639G>A p.A547T 2 Recurrent X Specific Non Disease geneMissense Substitution MORC4 c.446A>G p.N149S 4 Recurrent X Specific Non Disease geneMissense Substitution MPP1 c.200G>A p.R67Q 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution MPP1 c.822C>T p.V274V 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MPP1 c.546G>A p.A182A 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MPP1 c.255G>T p.T85T 147 Recurrent X Specific Non Disease gene

Missense Substitution MSL3L1 c.1094G>A p.S365N 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MSL3L1 c.768G>A p.E256E 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MSN c.528T>C p.H176H 3 Recurrent X Specific Non Disease gene

Missense Substitution MTM1 c.899C>T p.A300V 1 Nonrecurrent X Specific XLMR geneSilent Substitution MTM1 c.1701C>T p.Y567Y 1 Nonrecurrent X Specific XLMR geneSilent Substitution MTMR1 c.1902C>T p.G634G 109 Recurrent X Specific Non Disease gene

Missense Substitution MTMR8 c.217C>T p.R73C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MTMR8 c.130G>A p.A44T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MTMR8 c.1693C>T p.P565S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MUM1L1 c.20T>A p.L7Q 5 Recurrent X Specific Non Disease gene

Silent Substitution MUM1L1 c.546G>A p.V182V 7 Recurrent X Specific Non Disease geneSilent Substitution MUM1L1 c.579C>T p.C193C 2 Recurrent X Specific Non Disease gene

Missense Substitution MXRA5 c.2480C>G p.P827R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MXRA5 c.5657C>T p.T1886I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MXRA5 c.5735C>G p.T1912S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MXRA5 c.4788T>A p.D1596E 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MXRA5 c.8100G>C p.E2700D 19 Recurrent X Specific Non Disease geneMissense Substitution MXRA5 c.1387A>G p.I463V 2 Recurrent X Specific Non Disease geneMissense Substitution MXRA5 c.664G>A p.D222N 3 Recurrent X Specific Non Disease geneMissense Substitution MXRA5 c.5611A>G p.T1871A 1 Nonrecurrent X Specific Non Disease gene





SiteNNSplice

ScoreMissense Substitution MXRA5 c.3383C>T p.A1128V 114 Recurrent X Specific Non Disease geneMissense Substitution MXRA5 c.5998G>A p.G2000S 77 Recurrent X Specific Non Disease geneMissense Substitution MXRA5 c.2249C>T p.S750L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MXRA5 c.3281C>T p.T1094I 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution MXRA5 c.3933G>A p.E1311E 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MXRA5 c.8310G>A p.P2770P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MXRA5 c.2016G>A p.G672G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MXRA5 c.8148G>A p.E2716E 7 Recurrent X Specific Non Disease geneSilent Substitution MXRA5 c.1935C>T p.D645D 119 Recurrent X Specific Non Disease geneSilent Substitution MXRA5 c.1638G>A p.E546E 2 Recurrent X Specific Non Disease geneSilent Substitution MXRA5 c.2409A>G p.P803P 142 Recurrent X Specific Non Disease geneSilent Substitution MXRA5 c.2442T>C p.S814S 120 Recurrent X Specific Non Disease geneSilent Substitution MXRA5 c.5559A>C p.P1853P 83 Recurrent X Specific Non Disease geneSilent Substitution MXRA5 c.5694G>A p.P1898P 11 Recurrent X Specific Non Disease geneIns/Del (in frame) NAP1L2 c.660_663delGAG p.E660_E661>D 1 Nonrecurrent X Specific Non Disease geneIns/Del (in frame) NAP1L3 c.190_195delAGCAGC p.S64_S65delSS 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution NAP1L3 c.670C>G p.P224A 127 Recurrent X Specific Non Disease geneMissense Substitution NAP1L3 c.926A>G p.K309R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution NAP1L6 c.80C>T p.P27L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution NCBP2L c.509T>C p.L170P 18 Recurrent X Specific Non Disease gene

Silent Substitution NCBP2L c.522T>C p.Y174Y 1 Nonrecurrent X Specific Non Disease geneSilent Substitution NCBP2L c.843G>T p.S281S 16 Recurrent X Specific Non Disease geneSilent Substitution NCBP2L c.1209C>A p.V403V 19 Recurrent X Specific Non Disease geneSilent Substitution NDUFA1 c.141G>C p.L47L 3 Recurrent X Specific XLMR gene

NonsenseSubstitution NDUFA1 c.901C>T p.Q301* 1 Nonrecurrent X Specific XLMR geneMissense Substitution NHS c.2267T>C p.F756S 1 Nonrecurrent X Specific XLMR geneMissense Substitution NHS c.2530G>A p.A844T 1 Nonrecurrent X Specific XLMR geneMissense Substitution NHS c.3955T>C p.F1319L 9 Recurrent X Specific XLMR geneMissense Substitution NHS c.3866G>T p.G1289V 1 Nonrecurrent X Specific XLMR gene

Silent Substitution NHS c.765C>G p.P255P 1 Nonrecurrent X Specific XLMR geneSilent Substitution NHS c.2418G>A p.Q806Q 1 Nonrecurrent X Specific XLMR geneSilent Substitution NHS c.3141A>G p.L1047L 2 Recurrent X Specific XLMR geneSilent Substitution NHS c.3138T>C p.S1046S 2 Recurrent X Specific XLMR geneSilent Substitution NKRF c.156T>C p.H52H 2 Recurrent X Specific Non Disease geneSilent Substitution NLGN3 c.747C>T p.S249S 1 Nonrecurrent X Specific XLMR gene

Missense Substitution NLGN4X c.2388C>A p.N796K 1 Nonrecurrent X Specific XLMR geneMissense Substitution NLGN4X c.2360C>T p.T787M 26 Recurrent X Specific XLMR geneMissense Substitution NLGN4X c.2164G>A p.A722T 22 Recurrent X Specific XLMR geneMissense Substitution NLGN4X c.1777C>T p.L593F 1 Nonrecurrent X Specific XLMR geneMissense Substitution NLGN4X c.2317C>T p.L773F 22 Recurrent X Specific XLMR gene

Silent Substitution NLGN4X c.933C>T p.T311T 41 Recurrent X Specific XLMR geneSilent Substitution NLGN4X c.2356C>T p.L786L 1 Nonrecurrent X Specific XLMR geneSilent Substitution NLGN4X c.2253A>G p.T751T 17 Recurrent X Specific XLMR geneSilent Substitution NLGN4X c.1779C>G p.L593L 1 Nonrecurrent X Specific XLMR geneIns/Del (in frame) NOX1 c.555_557delCTT p.F185_L186>L 93 Recurrent X Specific Non Disease gene

Missense Substitution NP_689795 c.359A>G p.Q120R 144 Recurrent X Specific Non Disease geneSilent Substitution NR0B1 c.498G>A p.R166R 28 Recurrent X Specific Non Disease geneSilent Substitution NR0B1 c.114C>T p.C38C 34 Recurrent X Specific Non Disease gene

Missense Substitution NRK c.2230C>A p.Q744K 1 Nonrecurrent X Specific Non Disease geneMissense Substitution NRK c.4495G>A p.D1499N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution NRK c.1072G>A p.V358M 50 Recurrent X Specific Non Disease geneMissense Substitution NRK c.3044C>T p.A1015V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution NRK c.2912A>G p.D971G 1 Nonrecurrent X Specific Non Disease geneMissense Substitution NRK c.2779A>G p.S927G 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution NRK c.4206A>G p.V1402V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution NSBP1 c.23G>T p.G8V 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution NSDHL c.132T>G p.G44G 48 Recurrent X Specific Disease geneSilent Substitution NSDHL c.1054C>T p.L352L 2 Recurrent X Specific Disease gene

Ins/Del (out of frame) NSDHL c.1098_1099insT p.R367fs*>8 1 Nonrecurrent X Specific Disease geneMissense Substitution NUP62CL c.530T>C p.M177T 8 Recurrent X Specific Non Disease geneMissense Substitution NUP62CL c.216G>C p.M72I 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution NUP62CL c.477T>C p.R159R 8 Recurrent X Specific Non Disease geneSilent Substitution NUP62CL c.426A>G p.S142S 3 Recurrent X Specific Non Disease geneSilent Substitution NXF3 c.318G>A p.P106P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution NXF3 c.150T>C p.D50D 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution NXF5 c.67A>G p.K23E 5 Recurrent X Specific XLMR geneSilent Substitution NXF5 c.1191A>G p.S397S 27 Recurrent X Specific XLMR gene

Missense Substitution ODZ1 c.5450G>T p.R1817L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ODZ1 c.6560A>T p.H2187L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ODZ1 c.3709C>T p.P1237S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ODZ1 c.1118T>C p.M373T 4 Recurrent X Specific Non Disease gene

Silent Substitution ODZ1 c.5355G>A p.S1785S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ODZ1 c.5982T>C p.Y1994Y 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ODZ1 c.1122C>T p.D374D 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ODZ1 c.6492T>G p.V2164V 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ODZ1 c.5544A>G p.S1848S 21 Recurrent X Specific Non Disease geneSilent Substitution ODZ1 c.4992C>A p.T1664T 71 Recurrent X Specific Non Disease geneSilent Substitution ODZ1 c.4482A>G p.A1494A 29 Recurrent X Specific Non Disease geneSilent Substitution ODZ1 c.39A>G p.P13P 3 Recurrent X Specific Non Disease geneSilent Substitution ODZ1 c.3192G>T p.V1064V 2 Recurrent X Specific Non Disease gene

Missense Substitution OFD1 c.535A>T p.I179F 2 Recurrent X Specific XLMR geneSilent Substitution OFD1 c.714T>C p.Y238Y 1 Nonrecurrent X Specific XLMR gene

Missense Substitution OGT c.1678A>G p.T560A 1 Nonrecurrent X Specific Non Disease geneSilent Substitution OGT c.1470T>C p.N490N 1 Nonrecurrent X Specific Non Disease gene





SiteNNSplice

ScoreSilent Substitution OGT c.1743T>C p.Y581Y 1 Nonrecurrent X Specific Non Disease geneSilent Substitution OGT c.2811A>G p.P937P 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution OPHN1 c.1955C>T p.S652F 1 Nonrecurrent X Specific XLMR geneMissense Substitution OPHN1 c.434T>C p.L145P 1 Nonrecurrent X Specific XLMR geneMissense Substitution OPHN1 c.2168A>G p.D723G 1 Nonrecurrent X Specific XLMR geneMissense Substitution OPHN1 c.115G>A p.V39I 12 Recurrent X Specific XLMR geneMissense Substitution OTC c.809A>G p.Q270R 7 Recurrent X Specific XLMR geneMissense Substitution OTC c.137A>G p.K46R 33 Recurrent X Specific XLMR geneMissense Substitution OTC c.863T>G p.M288R 1 Nonrecurrent X Specific XLMR gene

Silent Substitution OTC c.387T>A p.R129R 1 Nonrecurrent X Specific XLMR geneMissense Substitution P2RY10 c.7A>C p.N3H 5 Recurrent X Specific Non Disease geneMissense Substitution P2RY4 c.739A>G p.I247V 5 Recurrent X Specific Non Disease geneMissense Substitution P2RY4 c.700T>G p.S234A 10 Recurrent X Specific Non Disease geneMissense Substitution P2RY4 c.1054C>A p.P352T 6 Recurrent X Specific Non Disease geneMissense Substitution P2RY4 c.533A>C p.N178T 27 Recurrent X Specific Non Disease gene

Silent Substitution P2RY4 c.726C>A p.R242R 11 Recurrent X Specific Non Disease geneNonsenseSubstitution P2RY4 c.1043G>A p.W348* 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution P2RY8 c.54G>A p.R18R 1 Nonrecurrent PAR Non Disease geneSilent Substitution P2RY8 c.141G>C p.V47V 1 Nonrecurrent PAR Non Disease gene

Missense Substitution PABPC5 c.151C>G p.R51G 2 Recurrent X Specific Non Disease geneSilent Substitution PAGE1 c.168G>A p.G56G 2 Recurrent X Specific Non Disease geneSilent Substitution PAGE1 c.87C>T p.D29D 7 Recurrent X Specific Non Disease gene

Missense Substitution PAGE3 c.103A>G p.N35D 125 Recurrent X Specific Non Disease geneSilent Substitution PAGE3 c.255A>C p.G85G 50 Recurrent X Specific Non Disease geneIns/Del (in frame) PASD1 delAGCGGCAGCTGCGGGAGCAGC p.Q 1 Nonrecurrent X Specific Non Disease geneIns/Del (in frame) PASD1 5delATGGACCAGCAGGACCCA p.M320 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution PASD1 c.1878A>C p.Q626H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PASD1 c.1525G>A p.V509M 7 Recurrent X Specific Non Disease geneMissense Substitution PASD1 c.584T>C p.V195A 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution PASD1 c.513A>C p.G171G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PASD1 c.606G>A p.E202E 4 Recurrent X Specific Non Disease geneSilent Substitution PASD1 c.513A>G p.G171G 37 Recurrent X Specific Non Disease geneSilent Substitution PASD1 c.522C>T p.C174C 38 Recurrent X Specific Non Disease geneSilent Substitution PASD1 c.915G>A p.E305E 3 Recurrent X Specific Non Disease geneSilent Substitution PASD1 c.1371T>C p.G457G 28 Recurrent X Specific Non Disease gene

Missense Substitution PCDH11X c.3053G>A p.R1018Q 4 Recurrent X Specific Non Disease geneMissense Substitution PCDH19 c.813C>G p.H271Q 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PCDH19 c.1232G>A p.R411Q 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution PCDH19 c.186G>A p.P62P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PCDH19 c.1377C>T p.D459D 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PCDH19 c.130C>T p.L44L 41 Recurrent X Specific Non Disease geneSilent Substitution PCTK1 c.636G>A p.V212V 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PCYT1B c.609G>A p.S203S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PCYT1B c.126T>G p.T42T 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution PDHA1 c.844A>C p.M282L 1 Nonrecurrent X Specific XLMR geneSilent Substitution PDHA1 c.795A>G p.A265A 6 Recurrent X Specific XLMR gene

Missense Substitution PDK3 c.376A>G p.M126V 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PDK3 c.336G>C p.L112L 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution PFKFB1 c.122C>T p.S41F 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PGAM4 c.37G>A p.E13K 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PGAM4 c.257G>A p.R86H 10 Recurrent X Specific Non Disease geneMissense Substitution PGK1 c.241G>T p.V81F 2 Recurrent X Specific XLMR geneMissense Substitution PGK1 c.674A>G p.N225S 1 Nonrecurrent X Specific XLMR geneMissense Substitution PGK1 c.914C>G p.S305C 1 Nonrecurrent X Specific XLMR geneMissense Substitution PGK1 c.183G>A p.M61I 1 Nonrecurrent X Specific XLMR geneMissense Substitution PGRMC1 c.574C>T p.R192W 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PGRMC1 c.494A>G p.H165R 2 Recurrent X Specific Non Disease geneMissense Substitution PHF16 c.2236T>C p.F746L 4 Recurrent X Specific Non Disease geneMissense Substitution PHF16 c.2042A>G p.D681G 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PHF8 c.2720G>A p.R907H 1 Nonrecurrent X Specific XLMR gene

Silent Substitution PHF8 c.1140C>T p.R380R 1 Nonrecurrent X Specific XLMR geneSilent Substitution PHF8 c.441T>G p.V147V 4 Recurrent X Specific XLMR geneSilent Substitution PHKA1 c.429C>T p.L143L 3 Recurrent X Specific Disease gene

Missense Substitution PHKA2 c.112G>C p.E38Q 2 Recurrent X Specific Disease geneMissense Substitution PHKA2 c.3388C>T p.R1130C 1 Nonrecurrent X Specific Disease geneMissense Substitution PHKA2 c.1952C>A p.T651N 1 Nonrecurrent X Specific Disease geneMissense Substitution PHKA2 c.2077A>G p.I693V 1 Nonrecurrent X Specific Disease gene

Silent Substitution PHKA2 c.2532G>A p.L844L 1 Nonrecurrent X Specific Disease geneSilent Substitution PHKA2 c.3132G>A p.S1044S 1 Nonrecurrent X Specific Disease geneSilent Substitution PHKA2 c.2157G>A p.P719P 1 Nonrecurrent X Specific Disease geneSilent Substitution PHKA2 c.742A>C p.R248R 1 Nonrecurrent X Specific Disease geneSilent Substitution PHKA2 c.2436G>A p.G812G 2 Recurrent X Specific Disease gene

Missense Substitution PIGA c.613G>A p.V205I 1 Nonrecurrent X Specific Disease geneSilent Substitution PIM2 c.870C>T p.A290A 2 Recurrent X Specific Non Disease gene

Missense Substitution PIN4 c.47G>A p.R16Q 15 Recurrent X Specific Non Disease geneMissense Substitution PIN4 c.54C>A p.S18R 15 Recurrent X Specific Non Disease gene

Silent Substitution PIN4 c.279C>T p.A93A 4 Recurrent X Specific Non Disease geneSilent Substitution PIN4 c.444T>C p.H148H 3 Recurrent X Specific Non Disease geneSilent Substitution PIR c.681G>A p.Q227Q 18 Recurrent X Specific Non Disease gene

Missense Substitution PJA1 c.1254G>T p.E418D 43 Recurrent X Specific Non Disease geneMissense Substitution PJA1 c.1353C>G p.F451L 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution PJA1 c.246C>T p.S82S 38 Recurrent X Specific Non Disease geneMissense Substitution PJA1 c.731G>A p.S244N 24 Recurrent X Specific Non Disease gene

Silent Substitution PJA1 c.606C>T p.G202G 10 Recurrent X Specific Non Disease gene





SiteNNSplice

ScoreMissense Substitution PLCXD1 c.236C>G p.P79R 2 Recurrent PAR Non Disease geneMissense Substitution PLCXD1 c.137A>G p.D46G 2 Recurrent PAR Non Disease geneMissense Substitution PLCXD1 c.512T>C p.I171T 1 Nonrecurrent PAR Non Disease geneMissense Substitution PLCXD1 c.914G>T p.G305V 30 Recurrent PAR Non Disease geneMissense Substitution PLCXD1 c.944C>T p.A315V 1 Nonrecurrent PAR Non Disease geneMissense Substitution PLCXD1 c.380C>T p.T127M 1 Nonrecurrent PAR Non Disease geneMissense Substitution PLCXD1 c.928G>A p.V310I 1 Nonrecurrent PAR Non Disease gene

Silent Substitution PLCXD1 c.684C>G p.T228T 1 Nonrecurrent PAR Non Disease geneSilent Substitution PLCXD1 c.837G>T p.R279R 1 Nonrecurrent PAR Non Disease geneSilent Substitution PLCXD1 c.798C>T p.S266S 1 Nonrecurrent PAR Non Disease geneSilent Substitution PLCXD1 c.312C>T p.D104D 57 Recurrent PAR Non Disease geneSilent Substitution PLP1 c.459G>A p.V153V 1 Nonrecurrent X Specific XLMR geneSilent Substitution PLP1 c.609T>C p.D203D 61 Recurrent X Specific XLMR gene

Missense Substitution PLP2 c.16C>T p.R6C 2 Recurrent X Specific Non Disease geneSilent Substitution PLS3 c.321T>A p.G107G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PLS3 c.1476C>G p.T492T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PLS3 c.1545T>C p.D515D 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PLS3 c.1294T>C p.L432L 7 Recurrent X Specific Non Disease geneSilent Substitution PLS3 c.1242T>C p.P414P 7 Recurrent X Specific Non Disease gene

Missense Substitution PLXNA3 c.3520C>A p.L1174I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PLXNA3 c.1298G>A p.R433H 3 Recurrent X Specific Non Disease gene

Silent Substitution PLXNA3 c.4077C>T p.R1359R 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PLXNA3 c.2901A>G p.T967T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PLXNA3 c.3723G>C p.A1241A 19 Recurrent X Specific Non Disease geneSilent Substitution PLXNA3 c.2289C>T p.F763F 10 Recurrent X Specific Non Disease geneSilent Substitution PLXNA3 c.3462G>T p.A1154A 2 Recurrent X Specific Non Disease geneSilent Substitution PLXNA3 c.1167G>A p.L389L 2 Recurrent X Specific Non Disease geneSilent Substitution PLXNA3 c.933G>A p.P311P 2 Recurrent X Specific Non Disease geneSilent Substitution PLXNB3 c.4113G>A p.T1371T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PLXNB3 c.1776T>C p.P592P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PLXNB3 c.2208G>A p.E736E 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PLXNB3 c.1209C>T p.L403L 2 Recurrent X Specific Non Disease gene

Missense Substitution PNMA3 c.1130T>C p.V377A 166 Recurrent X Specific Non Disease geneSilent Substitution PNMA3 c.777G>A p.E259E 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution PNMA5 c.889G>A p.A297T 4 Recurrent X Specific Non Disease geneSilent Substitution PNMA5 c.1164A>G p.P388P 13 Recurrent X Specific Non Disease gene

Missense Substitution PNMA6A c.1124T>G p.L375R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PNPLA4 c.575C>T p.P192L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PNPLA4 c.484G>A p.V162M 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution PNPLA4 c.243A>G p.V81V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution POF1B c.986G>A p.R329Q 1 Nonrecurrent X Specific Disease geneMissense Substitution POF1B c.716G>C p.C239S 1 Nonrecurrent X Specific Disease geneMissense Substitution POF1B c.1045A>T p.M349L 23 Recurrent X Specific Disease geneMissense Substitution POLA1 c.3604G>C p.D1202H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution POLA1 c.2799C>G p.D933E 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution POLA1 c.813G>A p.K271K 1 Nonrecurrent X Specific Non Disease geneSilent Substitution POLA1 c.4338C>T p.Y1446Y 4 Recurrent X Specific Non Disease geneSilent Substitution POLA1 c.3699C>A p.V1233V 13 Recurrent X Specific Non Disease gene

Missense Substitution POU3F4 c.733A>G p.M245V 2 Recurrent X Specific Disease geneSilent Substitution POU3F4 c.471C>T p.A157A 1 Nonrecurrent X Specific Disease gene

Missense Substitution PPEF1 c.1327G>A p.G443S 17 Recurrent X Specific Non Disease geneMissense Substitution PPP1R3F c.1384T>G p.S462A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PPP1R3F c.1399G>A p.G467R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PPP1R3F c.794A>G p.Y265C 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution PPP1R3F c.2313C>T p.A771A 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PPP1R3F c.2136C>T p.A712A 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution PPP2R3B c.457G>A p.A153T 12 Recurrent PAR Non Disease geneMissense Substitution PPP2R3B c.1667C>T p.P556L 1 Nonrecurrent PAR Non Disease geneMissense Substitution PPP2R3B c.1556C>T p.A519V 1 Nonrecurrent PAR Non Disease gene

Silent Substitution PPP2R3B c.525C>T p.P175P 1 Nonrecurrent PAR Non Disease geneSilent Substitution PPP2R3B c.1698A>G p.A566A 12 Recurrent PAR Non Disease geneSilent Substitution PPP2R3B c.393C>T p.P131P 13 Recurrent PAR Non Disease geneSilent Substitution PPP2R3B c.489T>C p.D163D 42 Recurrent PAR Non Disease geneSilent Substitution PPP2R3B c.1392T>C p.A464A 4 Recurrent PAR Non Disease geneIns/Del (in frame) PQBP1 elAGGGGCCATGACAAGTCGGAC p.G1 1 Nonrecurrent X Specific XLMR gene

Missense Substitution PQBP1 c.19C>G p.L7V 1 Nonrecurrent X Specific XLMR geneSilent Substitution PRDX4 c.579G>A p.E193E 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PRPS1 c.477C>T p.I159I 1 Nonrecurrent X Specific XLMR geneSilent Substitution PRPS1 c.942C>T p.S314S 1 Nonrecurrent X Specific XLMR geneSilent Substitution PRPS2 c.45G>A p.L15L 39 Recurrent X Specific Non Disease gene

Missense Substitution PRRG1 c.595A>G p.I199V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PRRG1 c.49C>T p.R17C 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution PRRG1 c.369T>G p.P123P 2 Recurrent X Specific Non Disease geneMissense Substitution PRRG3 c.458A>G p.N153S 177 Recurrent X Specific Non Disease geneMissense Substitution PRRG3 c.464C>T p.P155L 3 Recurrent X Specific Non Disease gene

Silent Substitution PRRG3 c.318G>A p.Q106Q 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PSMD10 c.652T>A p.L218I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution PTCHD1 c.761A>G p.H254R 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution PTCHD1 c.234G>C p.G78G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution PTCHD1 c.543T>C p.C181C 96 Recurrent X Specific Non Disease geneSilent Substitution Q0VGB3_HUMAN c.297G>A p.R99R 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution RAB33A c.16C>G p.L6V 2 Recurrent X Specific Non Disease geneSilent Substitution RAB33A c.282T>G p.G94G 2 Recurrent X Specific Non Disease geneSilent Substitution RAB39B c.543A>G p.T181T 1 Nonrecurrent X Specific Non Disease gene





SiteNNSplice

ScoreMissense Substitution RAB40A c.134A>T p.H45L 56 Recurrent X Specific Non Disease geneMissense Substitution RAB40A c.125C>T p.P42L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RAB40A c.485A>G p.N162S 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution RAB40AL c.282C>T p.Y94Y 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RAB40AL c.15C>T p.G5G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RAB40AL c.84T>C p.S28S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RAB40AL c.55C>T p.L19L 2 Recurrent X Specific Non Disease geneSilent Substitution RAB41 c.564G>C p.V188V 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RAB41 c.639C>T p.F213F 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RAB9B c.327G>A p.A109A 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RAI2 c.1170G>A p.T390T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RAI2 c.1002C>A p.P334P 5 Recurrent X Specific Non Disease gene

Missense Substitution RBM10 c.1891G>C p.A631P 5 Recurrent X Specific Non Disease geneSilent Substitution RBM10 c.1536C>T p.A512A 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RBM10 c.2484C>T p.P828P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RBM41 c.999G>A p.Q333Q 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution RBMX c.1129C>T p.R377C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RENBP c.968T>C p.F323S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RENBP c.1027G>A p.A343T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RENBP c.50A>G p.Q17R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RENBP c.295C>A p.P99T 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution REPS2 c.1440T>C p.N480N 2 Recurrent X Specific Non Disease geneIns/Del (in frame) RGAG1 c.3943_3945delAAG p.K1315_D1316>D 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution RGAG1 c.3598T>C p.W1200R 7 Recurrent X Specific Non Disease geneMissense Substitution RGAG1 c.457G>A p.A153T 2 Recurrent X Specific Non Disease gene

Silent Substitution RGAG1 c.1392C>T p.S464S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RGAG1 c.3420C>T p.S1140S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RGAG1 c.3921C>T p.T1307T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RGAG1 c.840T>A p.G280G 91 Recurrent X Specific Non Disease gene

Missense Substitution RGAG4 c.1477A>C p.S493R 15 Recurrent X Specific Non Disease geneMissense Substitution RGAG4 c.167T>C p.V56A 11 Recurrent X Specific Non Disease gene

Silent Substitution RGAG4 c.1836A>G p.G612G 152 Recurrent X Specific Non Disease geneSilent Substitution RGAG4 c.1857C>T p.R619R 151 Recurrent X Specific Non Disease gene

Missense Substitution RHGXX_HUMAN c.1532A>G p.H511R 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RHGXX_HUMAN c.378C>T p.T126T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RHGXX_HUMAN c.516G>A p.E172E 2 Recurrent X Specific Non Disease gene

Missense Substitution RNF113A c.1006G>A p.D336N 3 Recurrent X Specific Non Disease geneMissense Substitution RNF12 c.533A>C p.N178T 2 Recurrent X Specific Non Disease gene

Silent Substitution RNF12 c.1395G>A p.S465S 3 Recurrent X Specific Non Disease geneMissense Substitution RNF128 c.610A>T p.N204Y 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RP11-217H1 c.932T>G p.V311G 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RP11-262D11 c.1699A>G p.R567G 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RP11-262D11 c.1595C>T p.T532I 7 Recurrent X Specific Non Disease geneMissense Substitution RP11-262D11 c.1667G>A p.R556Q 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution RP11-262D11 c.1812C>T p.D604D 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RP11-274K13 c.68C>T p.T23M 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RP11-30A20 c.975C>G p.N325K 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RP11-30A20 c.1052G>T p.W351L 99 Recurrent X Specific Non Disease geneMissense Substitution RP11-30A20 c.488C>T p.S163L 96 Recurrent X Specific Non Disease gene

Silent Substitution RP11-30A20 c.1011C>T p.N337N 96 Recurrent X Specific Non Disease geneMissense Substitution RP11-35F15 c.115A>G p.T39A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RP11-35F15 c.698C>T p.P233L 17 Recurrent X Specific Non Disease geneMissense Substitution #N/A c.1706T>A p.V569D 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution #N/A c.1887C>T p.D629D 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEB10 c.149T>C p.F50S 81 Recurrent X Specific Non Disease geneMissense Substitution MAGEB10 c.590G>A p.G197D 1 Nonrecurrent X Specific Non Disease geneMissense Substitution MAGEB10 c.194G>A p.R65Q 72 Recurrent X Specific Non Disease gene

Silent Substitution MAGEB10 c.558A>C p.L186L 5 Recurrent X Specific Non Disease geneMissense Substitution #N/A c.797A>C p.Y266S 116 Recurrent X Specific Non Disease gene

Silent Substitution #N/A c.549C>G p.L183L 61 Recurrent X Specific Non Disease geneSilent Substitution #N/A c.420A>G p.V140V 86 Recurrent X Specific Non Disease gene

Missense Substitution RP1-177G6 c.268C>G p.P90A 2 Recurrent X Specific Non Disease geneSilent Substitution RP1-19N1 c.276C>T p.S92S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution KLHL13 c.555G>A p.V185V 8 Recurrent X Specific Non Disease geneSilent Substitution KLHL13 c.1866G>C p.L622L 12 Recurrent X Specific Non Disease geneSilent Substitution SPANXN1 c.174A>G p.K58K 2 Recurrent X Specific Non Disease gene

Missense Substitution CXorf64 c.578T>C p.M193T 4 Recurrent X Specific Non Disease geneMissense Substitution CXorf64 c.343C>G p.L115V 19 Recurrent X Specific Non Disease gene

Silent Substitution CXorf64 c.807G>A p.P269P 66 Recurrent X Specific Non Disease geneSilent Substitution CXorf64 c.132C>T p.D44D 11 Recurrent X Specific Non Disease geneSilent Substitution CXorf64 c.279C>T p.Y93Y 5 Recurrent X Specific Non Disease gene

Missense Substitution RP13-347D8 c.3347T>C p.L1116P 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RP13-347D8 c.2734C>T p.P912S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RP13-347D8 c.2305A>T p.I769F 10 Recurrent X Specific Non Disease geneMissense Substitution RP13-347D8 c.4319A>G p.E1440G 15 Recurrent X Specific Non Disease geneMissense Substitution RP13-347D8 c.593C>T p.S198L 2 Recurrent X Specific Non Disease geneMissense Substitution RP13-347D8 c.794G>A p.R265H 3 Recurrent X Specific Non Disease geneMissense Substitution RP13-347D8 c.88C>A p.L30I 4 Recurrent X Specific Non Disease gene

Silent Substitution RP13-347D8 c.2616G>A p.P872P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RP13-347D8 c.2646G>A p.S882S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RP13-347D8 c.1218C>T p.V406V 3 Recurrent X Specific Non Disease geneSilent Substitution RP13-347D8 c.3945T>C p.S1315S 15 Recurrent X Specific Non Disease gene

Missense Substitution MOSPD2 c.719G>A p.S240N 3 Recurrent X Specific Non Disease geneMissense Substitution MOSPD2 c.15C>G p.H5Q 1 Nonrecurrent X Specific Non Disease gene





SiteNNSplice

ScoreSilent Substitution MOSPD2 c.96T>C p.Y32Y 1 Nonrecurrent X Specific Non Disease geneSilent Substitution MOSPD2 c.654C>T p.V218V 2 Recurrent X Specific Non Disease gene

Missense Substitution RP2 c.844C>T p.R282W 6 Recurrent X Specific Disease geneIns/Del (in frame) NKAP c.603_605delATC p.S202_K203>K 9 Recurrent X Specific Non Disease gene

Missense Substitution RP3-527F8 c.79T>C p.F27L 26 Recurrent X Specific Non Disease geneSilent Substitution RP3-527F8 c.96C>T p.S32S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ARMCX6 c.18T>C p.N6N 3 Recurrent X Specific Non Disease geneSilent Substitution RP4-765F13 c.144C>T p.P48P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RP4-765F13 c.15G>A p.L5L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution CXorf65 c.417G>A p.A139A 55 Recurrent X Specific Non Disease gene

Missense Substitution RP6-213H19 c.133C>T p.R45C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RPA4 c.97G>A p.A33T 45 Recurrent X Specific Non Disease gene

Silent Substitution RPA4 c.420T>A p.L140L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RPA4 c.150T>C p.N50N 47 Recurrent X Specific Non Disease geneIns/Del (in frame) RPGR c.1579_1581delCAA p.Q527_T528>T 2 Recurrent X Specific Disease gene

Missense Substitution RPGR c.1697G>A p.G566E 7 Recurrent X Specific Disease geneMissense Substitution RPGR c.1598C>T p.T533M 2 Recurrent X Specific Disease geneMissense Substitution RPGR c.1367A>G p.Q456R 2 Recurrent X Specific Disease geneMissense Substitution RPGR c.1291A>G p.I431V 6 Recurrent X Specific Disease geneMissense Substitution RPGR c.1274G>A p.R425K 7 Recurrent X Specific Disease gene

Silent Substitution RPGR c.732G>A p.K244K 1 Nonrecurrent X Specific Disease geneSilent Substitution RPGR c.1164G>A p.A388A 28 Recurrent X Specific Disease gene

Missense Substitution RPL10 c.605A>G p.N202S 119 Recurrent X Specific XLMR geneSilent Substitution RPL36A c.141C>T p.G47G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RPL39 c.126A>G p.R42R 3 Recurrent X Specific Non Disease gene

Ins/Del (out of frame) RPL9P7 c.75delT p.I26fs*2 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RPS26L1 c.157A>G p.I53V 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution RPS4X c.492G>A p.L164L 116 Recurrent X Specific Non Disease geneMissense Substitution RPS6KA3 c.2168G>A p.R723H 1 Nonrecurrent X Specific XLMR geneMissense Substitution RPS6KA3 c.113T>G p.I38S 1 Nonrecurrent X Specific XLMR gene

Silent Substitution RPS6KA3 c.213A>G p.L71L 1 Nonrecurrent X Specific XLMR geneMissense Substitution RPS6KA6 c.2228C>A p.T743N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution RPS6KA6 c.2074G>A p.D692N 12 Recurrent X Specific Non Disease gene

Silent Substitution RPS6KA6 c.537C>T p.L179L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution RS1 c.330T>C p.C110C 1 Nonrecurrent X Specific Disease gene

Missense Substitution SAGE1 c.2630T>C p.V877A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SAGE1 c.2414T>C p.L805S 56 Recurrent X Specific Non Disease geneMissense Substitution SAGE1 c.200C>T p.S67L 3 Recurrent X Specific Non Disease geneMissense Substitution SAGE1 c.1159C>T p.H387Y 16 Recurrent X Specific Non Disease geneMissense Substitution SAGE1 c.604G>A p.V202I 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution SAGE1 c.1200T>C p.D400D 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SAGE1 c.2646C>T p.L882L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SAGE1 c.1059A>T p.V353V 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SAGE1 c.24G>A p.T8T 43 Recurrent X Specific Non Disease geneSilent Substitution SAGE1 c.285T>C p.N95N 53 Recurrent X Specific Non Disease geneSilent Substitution SAGE1 c.1497A>G p.Q499Q 54 Recurrent X Specific Non Disease geneSilent Substitution SAGE1 c.2463G>A p.K821K 41 Recurrent X Specific Non Disease gene

NonsenseSubstitution SAGE1 c.621T>A p.C207* 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SATL1 c.1130G>T p.S377I 2 Recurrent X Specific Non Disease geneMissense Substitution SATL1 c.1120T>A p.S374T 2 Recurrent X Specific Non Disease geneMissense Substitution SATL1 c.667C>A p.P223T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SATL1 c.835T>C p.W279R 122 Recurrent X Specific Non Disease geneMissense Substitution SATL1 c.259C>G p.P87A 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution SATL1 c.1755C>T p.N585N 3 Recurrent X Specific Non Disease geneSilent Substitution SATL1 c.387G>C p.T129T 2 Recurrent X Specific Non Disease gene

NonsenseSubstitution SATL1 c.1325G>A p.W442* 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SCML2 c.342C>T p.D114D 30 Recurrent X Specific Non Disease gene

Missense Substitution SEPT6 c.1108C>T p.R370C 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SEPT6 c.1155G>A p.K385K 11 Recurrent X Specific Non Disease gene

Missense Substitution SERPINA7 c.986A>T p.Y329F 2 Recurrent X Specific Disease geneSilent Substitution SERPINA7 c.207C>A p.S69S 1 Nonrecurrent X Specific Disease gene

Missense Substitution SH3KBP1 c.1949G>A p.R650Q 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SH3KBP1 c.1266G>A p.P422P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SH3KBP1 c.1029A>C p.P343P 2 Recurrent X Specific Non Disease gene

Missense Substitution SHOX c.376C>G p.L126V 1 Nonrecurrent PAR Disease geneMissense Substitution SHOX c.62G>A p.G21D 1 Nonrecurrent PAR Disease geneMissense Substitution SHROOM2 c.1426G>C p.G476R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SHROOM2 c.2458G>A p.G820R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SHROOM2 c.1680A>T p.K560N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SHROOM2 c.3320C>T p.A1107V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SHROOM2 c.631G>A p.G211S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SHROOM2 c.4661G>A p.R1554H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SHROOM2 c.4821G>C p.L1607F 34 Recurrent X Specific Non Disease geneMissense Substitution SHROOM2 c.3032G>A p.R1011Q 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution SHROOM2 c.3756A>G p.T1252T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SHROOM2 c.3774G>C p.S1258S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SHROOM2 c.783G>A p.S261S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SHROOM2 c.483G>A p.E161E 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SHROOM2 c.2946G>A p.P982P 1 Nonrecurrent X Specific Non Disease geneIns/Del (in frame) SHROOM4 3_3384insACAGCAGCAGCA p.Q1128>Q 3 Recurrent X Specific XLMR gene

Missense Substitution SHROOM4 c.2669G>A p.C890Y 1 Nonrecurrent X Specific XLMR geneMissense Substitution SHROOM4 c.3988G>A p.E1330K 1 Nonrecurrent X Specific XLMR geneMissense Substitution SHROOM4 c.4101G>T p.L1367F 1 Nonrecurrent X Specific XLMR geneMissense Substitution SHROOM4 c.266G>A p.R89K 1 Nonrecurrent X Specific XLMR gene





SiteNNSplice

ScoreMissense Substitution SHROOM4 c.1879C>T p.P627S 3 Recurrent X Specific XLMR geneMissense Substitution SHROOM4 c.1135G>A p.V379M 1 Nonrecurrent X Specific XLMR gene

Silent Substitution SHROOM4 c.294G>A p.P98P 1 Nonrecurrent X Specific XLMR geneSilent Substitution SHROOM4 c.450C>T p.T150T 1 Nonrecurrent X Specific XLMR geneSilent Substitution SHROOM4 c.3168T>C p.R1056R 1 Nonrecurrent X Specific XLMR geneSilent Substitution SHROOM4 c.3468A>G p.E1156E 51 Recurrent X Specific XLMR geneSilent Substitution SIAH1L c.765C>T p.D255D 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution SLC10A3 c.1213A>G p.T405A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SLC10A3 c.544G>A p.A182T 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution SLC16A2 c.669C>T p.L223L 1 Nonrecurrent X Specific XLMR geneMissense Substitution SLC25A14 c.701C>A p.T234K 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SLC25A43 c.1001C>T p.P334L 109 Recurrent X Specific Non Disease gene

Silent Substitution SLC25A43 c.57T>C p.A19A 8 Recurrent X Specific Non Disease geneMissense Substitution SLC25A5 c.332T>G p.L111R 93 Recurrent X Specific Non Disease gene

Silent Substitution SLC25A5 c.699T>C p.T233T 96 Recurrent X Specific Non Disease geneSilent Substitution SLC25A6 c.762C>T p.T254T 1 Nonrecurrent PAR Non Disease geneSilent Substitution SLC25A6 c.306C>T p.G102G 1 Nonrecurrent PAR Non Disease geneSilent Substitution SLC25A6 c.408C>T p.F136F 11 Recurrent PAR Non Disease geneSilent Substitution SLC25A6 c.429G>A p.A143A 2 Recurrent PAR Non Disease gene

Missense Substitution SLC38A5 c.1352T>C p.M451T 13 Recurrent X Specific Non Disease geneMissense Substitution SLC6A14 c.1010A>G p.N337S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SLC6A14 c.99T>G p.N33K 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SLC6A14 c.1529C>T p.T510I 18 Recurrent X Specific Non Disease gene

Silent Substitution SLC6A14 c.1332G>A p.K444K 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SLC6A14 c.120C>T p.S40S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SLC6A14 c.84T>A p.G28G 2 Recurrent X Specific Non Disease geneSilent Substitution SLC6A14 c.1593A>C p.V531V 5 Recurrent X Specific Non Disease gene

Missense Substitution SLC6A8 c.833G>T p.R278L 18 Recurrent X Specific XLMR geneMissense Substitution SLC6A8 c.1789C>A p.P597T 5 Recurrent X Specific XLMR geneMissense Substitution SLC6A8 c.575A>G p.N192S 13 Recurrent X Specific XLMR geneMissense Substitution SLC6A8 c.620G>A p.R207Q 25 Recurrent X Specific XLMR gene

Silent Substitution SLC6A8 c.405C>T p.Y135Y 21 Recurrent X Specific XLMR geneSilent Substitution SLC6A8 c.597C>T p.T199T 19 Recurrent X Specific XLMR gene

Missense Substitution SLC7A3 c.608T>C p.F203S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SLC7A3 c.1766G>C p.S589T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SLC7A3 c.1522C>G p.L508V 12 Recurrent X Specific Non Disease geneMissense Substitution SLC7A3 c.1571T>C p.I524T 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SLC7A3 c.1798C>T p.R600C 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution SLC7A3 c.744C>T p.F248F 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SLC7A3 c.1599T>C p.S533S 124 Recurrent X Specific Non Disease geneSilent Substitution SLC7A3 c.855G>A p.P285P 9 Recurrent X Specific Non Disease geneSilent Substitution SLC7A3 c.1032T>C p.A344A 7 Recurrent X Specific Non Disease geneSilent Substitution SLC9A6 c.1089A>C p.A363A 1 Nonrecurrent X Specific XLMR geneSilent Substitution SLC9A6 c.1659C>T p.S553S 9 Recurrent X Specific XLMR gene

Ins/Del (out of frame) SLC9A6 c.511_512delAT p.H171fs*59 1 Nonrecurrent X Specific XLMR geneNonsenseSubstitution SLC9A6 c.1402C>T p.R468* 1 Nonrecurrent X Specific XLMR gene

Splice SLC9A6 c.507+1delGTAA 1 Nonrecurrent X Specific XLMR geneMissense Substitution SLC9A7 c.1092C>G p.F364L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SLC9A7 c.455A>G p.E152G 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution SLC9A7 c.1740C>T p.D580D 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SLC9A7 c.1824C>T p.Y608Y 93 Recurrent X Specific Non Disease gene

Missense Substitution SLITRK2 c.1801T>C p.S601P 2 Recurrent X Specific Non Disease geneSilent Substitution SLITRK2 c.1495C>T p.L499L 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SLITRK2 c.987G>A p.V329V 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SLITRK2 c.939T>C p.P313P 147 Recurrent X Specific Non Disease geneSilent Substitution SLITRK2 c.1873T>C p.L625L 3 Recurrent X Specific Non Disease gene

Missense Substitution SMARCA1 c.823C>T p.R275C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SMARCA1 c.2117G>A p.R706H 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution SMARCA1 c.1608C>T p.T536T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SMARCA1 c.1269A>G p.Q423Q 3 Recurrent X Specific Non Disease geneSilent Substitution SMC1A c.3438C>T p.S1146S 1 Nonrecurrent X Specific XLMR gene

Missense Substitution SMS c.449T>C p.I150T 1 Nonrecurrent X Specific XLMR geneSilent Substitution SMS c.1026A>C p.S342S 3 Recurrent X Specific XLMR gene

Missense Substitution SOX3 c.310G>A p.G104R 2 Recurrent X Specific XLMR geneSilent Substitution SOX3 c.609T>C p.Y203Y 7 Recurrent X Specific XLMR geneIns/Del (in frame) SPANXN4 c.87_89delGAA p.K29_N30>N 3 Recurrent X Specific Non Disease geneSilent Substitution SPANXN4 c.87G>A p.K29K 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution SPIN2A c.700A>G p.T234A 3 Recurrent X Specific Non Disease geneMissense Substitution SRPK3 c.341G>A p.G114E 1 Nonrecurrent X Specific Non Disease gene

Ins/Del (in frame) SRPX c.68_70delTGC p.L23_R24 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SRPX c.347A>G p.K116R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SRPX c.1238C>T p.S413F 10 Recurrent X Specific Non Disease geneMissense Substitution SRPX2 c.329G>A p.R110H 1 Nonrecurrent X Specific XLMR geneMissense Substitution SSX1 c.422C>A p.P141H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SSX3 c.403G>A p.D135N 4 Recurrent X Specific Non Disease geneMissense Substitution SSX5 c.541C>T p.R181C 2 Recurrent X Specific Non Disease gene

Silent Substitution SSX5 c.522G>A p.Q174Q 10 Recurrent X Specific Non Disease geneMissense Substitution SSX6 c.44C>A p.A15D 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SSX6 c.197C>A p.T66N 1 Nonrecurrent X Specific Non Disease geneNonsenseSubstitution SSX6 c.111G>A: p.W37* 1 Nonrecurrent X Specific Non Disease geneMissense Substitution STARD8 c.980G>A p.R327Q 15 Recurrent X Specific Non Disease geneMissense Substitution STARD8 c.678A>C p.K226N 1 Nonrecurrent X Specific Non Disease geneMissense Substitution STARD8 c.1273G>A p.G425R 2 Recurrent X Specific Non Disease gene

Silent Substitution STARD8 c.2248A>C p.R750R 1 Nonrecurrent X Specific Non Disease gene





SiteNNSplice

ScoreSilent Substitution STARD8 c.279C>T p.P93P 12 Recurrent X Specific Non Disease geneSilent Substitution SEPT6 c.1851A>C p.G617G 78 Recurrent X Specific Non Disease geneSilent Substitution SUV39H1 c.780C>T p.T260T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution SYAP1 c.717G>A p.P239P 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution SYBL1 c.586G>A p.V196I 1 Nonrecurrent PAR Non Disease geneSilent Substitution SYN1 c.1422C>T p.P474P 1 Nonrecurrent X Specific XLMR geneSilent Substitution SYN1 c.1107C>T p.I369I 1 Nonrecurrent X Specific XLMR geneSilent Substitution SYN1 c.426A>G p.K142K 1 Nonrecurrent X Specific XLMR geneSilent Substitution SYN1 c.510T>C p.N170N 68 Recurrent X Specific XLMR gene

Ins/Del (out of frame) SYP c.274_275insA p.T92fs*4 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SYTL4 c.1938G>A p.M646I 2 Recurrent X Specific Non Disease geneMissense Substitution SYTL4 c.1574G>C p.G525A 2 Recurrent X Specific Non Disease gene

Silent Substitution SYTL4 c.507A>G p.R169R 3 Recurrent X Specific Non Disease geneMissense Substitution SYTL5 c.1105T>C p.S369P 5 Recurrent X Specific Non Disease geneMissense Substitution SYTL5 c.1334C>T p.A445V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution SYTL5 c.904C>T p.R302C 11 Recurrent X Specific Non Disease geneMissense Substitution SYTL5 c.823A>G p.I275V 21 Recurrent X Specific Non Disease gene

Silent Substitution SYTL5 c.489A>G p.A163A 49 Recurrent X Specific Non Disease geneSilent Substitution SYTL5 c.579G>A p.S193S 3 Recurrent X Specific Non Disease geneSilent Substitution SYTL5 c.1350T>C p.Y450Y 52 Recurrent X Specific Non Disease geneSilent Substitution SYTL5 c.978G>A p.E326E 1 Nonrecurrent X Specific Non Disease gene

NonsenseSubstitution SYTL5 c.1633G>T p.G545* 1 Nonrecurrent X Specific Non Disease geneIns/Del (in frame) TAF1 c.832_833insAGG p.V278> 1 Nonrecurrent X Specific Disease gene

Missense Substitution TAF1 c.3118G>A p.G1040R 1 Nonrecurrent X Specific Disease geneMissense Substitution TAF1 c.839G>C p.C280S 1 Nonrecurrent X Specific Disease geneMissense Substitution TAF1 c.923A>G p.D308G 1 Nonrecurrent X Specific Disease geneMissense Substitution TAF1 c.805C>G p.L269V 2 Recurrent X Specific Disease geneMissense Substitution TAF1 c.2402C>T p.T801M 1 Nonrecurrent X Specific Disease gene

Silent Substitution TAF1 c.4705C>T p.L1569L 1 Nonrecurrent X Specific Disease geneSilent Substitution TAF1 c.528T>C p.T176T 1 Nonrecurrent X Specific Disease geneIns/Del (in frame) TAF7L c.1062_1069delAAAGAA p.K354_E356>E 11 Recurrent X Specific Non Disease gene

Missense Substitution TAF7L c.1373G>A p.R458H 3 Recurrent X Specific Non Disease geneMissense Substitution TAF7L c.181G>A p.E61K 2 Recurrent X Specific Non Disease geneMissense Substitution TAF7L c.922A>G p.S308G 13 Recurrent X Specific Non Disease gene

Silent Substitution TAF7L c.1047G>A p.E349E 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TAF9B c.46G>T p.A16S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TBC1D8B c.2168A>G p.N723S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TBC1D8B c.3187G>A p.E1063K 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution TBC1D8B c.3051T>C p.A1017A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TBX22 c.559G>A p.E187K 7 Recurrent X Specific Disease gene

Silent Substitution TBX22 c.72C>T p.L24L 1 Nonrecurrent X Specific Disease geneMissense Substitution TCEAL2 c.374C>T p.A125V 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution TCEAL2 c.609T>C p.Y203Y 15 Recurrent X Specific Non Disease geneSilent Substitution TCEAL2 c.615G>A p.R205R 17 Recurrent X Specific Non Disease gene

Missense Substitution TCEAL4 c.266G>A p.G89E 2 Recurrent X Specific Non Disease geneSilent Substitution TCEAL4 c.867T>C p.H289H 70 Recurrent X Specific Non Disease gene

Missense Substitution TCEAL5 c.302G>C p.R101P 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TCEAL5 c.580G>A p.G194S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TCEAL8 c.125T>C p.V42A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TEX11 c.448C>T p.P150S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TEX11 c.898G>A p.E300K 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TEX11 c.1306G>A p.E436K 8 Recurrent X Specific Non Disease geneMissense Substitution TEX11 c.344A>G p.K115R 3 Recurrent X Specific Non Disease gene

Silent Substitution TEX11 c.405C>T p.A135A 1 Nonrecurrent X Specific Non Disease geneSilent Substitution TEX11 c.2496T>C p.D832D 9 Recurrent X Specific Non Disease gene

Missense Substitution TEX13A c.422A>G p.K141R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TEX13A c.1046G>T p.G349V 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TEX13B c.589G>A p.G197R 2 Recurrent X Specific Non Disease geneMissense Substitution TEX13B c.272A>T p.Q91L 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution TEX13B c.519C>T p.A173A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TFDP3 c.405G>T p.Q135H 3 Recurrent X Specific Non Disease gene

Silent Substitution TFDP3 c.261C>T p.H87H 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TFE3 c.416C>T p.A139V 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution TFE3 c.1323A>G p.V441V 64 Recurrent X Specific Non Disease geneMissense Substitution THOC2 c.1076T>C p.L359P 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution THOC2 c.1398A>G p.T466T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution TIMM17B c.228T>C p.I76I 77 Recurrent X Specific Non Disease geneSilent Substitution TIMP1 c.474C>T p.I158I 1 Nonrecurrent X Specific Non Disease geneSilent Substitution TIMP1 c.372T>C p.F124F 62 Recurrent X Specific Non Disease geneSilent Substitution TIMP1 c.261C>T p.P87P 2 Recurrent X Specific Non Disease gene

Missense Substitution TLR7 c.665T>A p.V222D 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TLR7 c.32A>T p.Q11L 33 Recurrent X Specific Non Disease gene

Silent Substitution TLR7 c.2403G>A p.T801T 15 Recurrent X Specific Non Disease geneSilent Substitution TLR7 c.1035G>A p.L345L 3 Recurrent X Specific Non Disease gene

Missense Substitution TLR8 c.1771G>A p.V591I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TLR8 c.2343A>C p.K781N 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution TLR8 c.2301A>G p.K767K 1 Nonrecurrent X Specific Non Disease geneSilent Substitution TLR8 c.129C>T p.C43C 1 Nonrecurrent X Specific Non Disease geneSilent Substitution TLR8 c.2307C>A p.I769I 59 Recurrent X Specific Non Disease geneSilent Substitution TLR8 c.408C>T p.D136D 31 Recurrent X Specific Non Disease geneSilent Substitution TLR8 c.2007G>C p.L669L 66 Recurrent X Specific Non Disease geneSilent Substitution TLR8 c.699C>T p.H233H 67 Recurrent X Specific Non Disease gene

Missense Substitution TMEM187 c.413G>A p.R138Q 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TMEM187 c.232A>G p.M78V 33 Recurrent X Specific Non Disease gene





SiteNNSplice

ScoreMissense Substitution TMEM187 c.209C>T p.S70L 21 Recurrent X Specific Non Disease gene

Silent Substitution TMEM187 c.735G>A p.T245T 19 Recurrent X Specific Non Disease geneSilent Substitution TMEM187 c.441C>T p.C147C 29 Recurrent X Specific Non Disease gene

Ins/Del (out of frame) TMEM187 c.782delG p.R261fs*1 1 Nonrecurrent X Specific Non Disease geneMissense Substitution TMEM27 c.589C>T p.P197S 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution TMEM28 c.1329C>T p.T443T 1 Nonrecurrent X Specific Non Disease geneSilent Substitution TMLHE c.573C>T p.F191F 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution TNMD c.112A>G p.I38V 2 Recurrent X Specific Non Disease geneSilent Substitution TNMD c.306G>A p.V102V 58 Recurrent X Specific Non Disease gene

Missense Substitution TRO c.1448C>T p.P483L 14 Recurrent X Specific Non Disease geneSilent Substitution TRO c.315G>A p.Q105Q 1 Nonrecurrent X Specific Non Disease geneSilent Substitution TRO c.1086A>G p.Q362Q 1 Nonrecurrent X Specific Non Disease geneSilent Substitution TRO c.225T>C p.P75P 4 Recurrent X Specific Non Disease gene

Missense Substitution TRPC5 c.401C>T p.T134M 2 Recurrent X Specific Non Disease geneMissense Substitution TRPC5 c.2212C>A p.L738I 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution TRPC5 c.39G>A p.P13P 3 Recurrent X Specific Non Disease geneSilent Substitution TRPC5 c.1809C>G p.T603T 7 Recurrent X Specific Non Disease gene

Missense Substitution TSPAN6 c.322G>A p.A108T 36 Recurrent X Specific Non Disease geneMissense Substitution TSPAN6 c.703C>T p.R235C 2 Recurrent X Specific Non Disease gene

Silent Substitution TSPAN6 c.186C>T p.F62F 1 Nonrecurrent X Specific Non Disease geneSilent Substitution TSPYL2 c.2043C>T p.N681N 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution LCAP c.938C>G p.T313S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution UBE1 c.1242C>T p.S414S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution UBE1 c.1296C>T p.L432L 2 Recurrent X Specific Non Disease gene

Missense Substitution UBE2A c.215T>C p.F72S 1 Nonrecurrent X Specific XLMR geneMissense Substitution UBE2A c.238C>G p.Q80E 1 Nonrecurrent X Specific XLMR gene

Silent Substitution UBE2NL c.420A>G p.T140T 1 Nonrecurrent X Specific Non Disease geneNonsenseSubstitution UBE2NL c.266T>G p.L89* 117 Recurrent X Specific Non Disease gene

Silent Substitution UBQLN2 c.1383G>A p.G461G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution UBQLN2 c.1461C>A p.T487T 2 Recurrent X Specific Non Disease gene

Missense Substitution UCHL5IP c.44T>A p.L15Q 1 Nonrecurrent X Specific Non Disease geneMissense Substitution UCHL5IP c.467G>T p.R156L 1 Nonrecurrent X Specific Non Disease geneMissense Substitution UCHL5IP c.673A>C p.M225L 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution UCHL5IP c.651T>C p.R217R 2 Recurrent X Specific Non Disease geneSilent Substitution UPF3B c.879A>G p.K293K 1 Nonrecurrent X Specific XLMR gene

Ins/Del (out of frame) UPF3B c.674_677delGAAA p.R225fs*22 1 Nonrecurrent X Specific XLMR geneIns/Del (out of frame) UPF3B c.867_868delAG p.G290fs*2 1 Nonrecurrent X Specific XLMR geneNonsenseSubstitution UPF3B c.1288C>T p.R430* 1 Nonrecurrent X Specific XLMR geneMissense Substitution UPRT c.483G>A p.M161I 1 Nonrecurrent X Specific Non Disease geneMissense Substitution UPRT c.215C>T p.S72F 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution UPRT c.381T>G p.R127R 140 Recurrent X Specific Non Disease geneMissense Substitution USP11 c.448G>A p.V150M 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution USP11 c.1515G>A p.P505P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution USP11 c.2562C>T p.F854F 1 Nonrecurrent X Specific Non Disease geneSilent Substitution USP11 c.2310C>T p.V770V 1 Nonrecurrent X Specific Non Disease geneSilent Substitution USP11 c.2727C>A p.V909V 2 Recurrent X Specific Non Disease geneIns/Del (in frame) USP26 c.369_370insACA p.Q124>TQ 2 Recurrent X Specific Disease gene

Missense Substitution USP26 c.2207C>T p.S736F 1 Nonrecurrent X Specific Disease geneMissense Substitution USP26 c.2206T>A p.S736T 1 Nonrecurrent X Specific Disease geneMissense Substitution USP26 c.1423C>T p.H475Y 2 Recurrent X Specific Disease geneMissense Substitution USP26 c.1044T>A p.F348L 1 Nonrecurrent X Specific Disease geneMissense Substitution USP26 c.494T>C p.L165S 2 Recurrent X Specific Disease geneMissense Substitution USP26 c.1090C>T p.L364F 17 Recurrent X Specific Disease gene

Silent Substitution USP26 c.576G>A p.E192E 72 Recurrent X Specific Disease geneSilent Substitution USP26 c.2088A>G p.P696P 2 Recurrent X Specific Disease gene

Missense Substitution USP51 c.1988G>A p.S663N 1 Nonrecurrent X Specific Non Disease geneSilent Substitution USP9X c.5715T>C p.D1905D 1 Nonrecurrent X Specific Non Disease geneSilent Substitution USP9X c.3609C>T p.S1203S 1 Nonrecurrent X Specific Non Disease geneSilent Substitution USP9X c.4791G>A p.K1597K 1 Nonrecurrent X Specific Non Disease geneSilent Substitution USP9X c.1983T>A p.G661G 4 Recurrent X Specific Non Disease gene

Ins/Del (out of frame) USP9X c.7505delA p.Q2502fs*18 1 Nonrecurrent X Specific Non Disease geneMissense Substitution UTX c.2177C>A p.T726K 29 Recurrent X Specific Non Disease gene

Silent Substitution UTX c.3111G>A p.Q1037Q 27 Recurrent X Specific Non Disease geneSplice VBP1 c.285+5G>A 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution VGLL1 c.45A>G p.K15K 7 Recurrent X Specific Non Disease geneMissense Substitution VSIG1 c.439G>A p.V147I 7 Recurrent X Specific Non Disease geneMissense Substitution VSIG4 c.480G>T p.R160S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution VSIG4 c.274G>T p.V92F 2 Recurrent X Specific Non Disease geneMissense Substitution VSIG4 c.836G>A p.G279E 5 Recurrent X Specific Non Disease geneMissense Substitution VSIG4 c.1148C>T p.T383I 1 Nonrecurrent X Specific Non Disease geneNonsenseSubstitution VSIG4 c.973A>T p.R325* 1 Nonrecurrent X Specific Non Disease geneMissense Substitution WDR13 c.145G>C p.A49P 1 Nonrecurrent X Specific Non Disease geneMissense Substitution WDR40B c.56A>G p.D19G 4 Recurrent X Specific Non Disease gene

Silent Substitution WDR40B c.1137C>T p.A379A 1 Nonrecurrent X Specific Non Disease geneMissense Substitution WDR40C c.441C>A p.H147Q 46 Recurrent X Specific Non Disease gene

Silent Substitution WDR40C c.1218C>T p.C406C 50 Recurrent X Specific Non Disease geneSilent Substitution WDR40C c.720A>C p.P240P 31 Recurrent X Specific Non Disease gene

Missense Substitution WDR42B c.1558G>C p.G520R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution WDR42B c.643G>A p.G215S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution WDR42B c.25G>A p.G9S 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution WDR42B c.306G>A p.E102E 11 Recurrent X Specific Non Disease geneMissense Substitution WDR44 c.865G>A p.A289T 18 Recurrent X Specific Non Disease gene

Silent Substitution WDR44 c.612C>T p.A204A 1 Nonrecurrent X Specific Non Disease geneSilent Substitution WDR44 c.147G>A p.E49E 6 Recurrent X Specific Non Disease gene





SiteNNSplice

ScoreSilent Substitution WDR44 c.1776C>T p.N592N 18 Recurrent X Specific Non Disease geneSilent Substitution WDR44 c.951C>T p.T317T 23 Recurrent X Specific Non Disease gene

Missense Substitution WNK3 c.1667C>G p.P556R 1 Nonrecurrent X Specific Non Disease geneMissense Substitution WNK3 c.3841C>T p.R1281W 1 Nonrecurrent X Specific Non Disease geneMissense Substitution WNK3 c.4219A>G p.K1407E 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution WNK3 c.2169C>A p.G723G 1 Nonrecurrent X Specific Non Disease geneSilent Substitution WNK3 c.1206T>C p.H402H 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution WWC3 c.2675G>A p.R892Q 1 Nonrecurrent X Specific Non Disease geneMissense Substitution WWC3 c.1483G>A p.A495T 4 Recurrent X Specific Non Disease geneMissense Substitution WWC3 c.2279C>T p.T760M 1 Nonrecurrent X Specific Non Disease geneMissense Substitution WWC3 c.1975G>A p.A659T 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution WWC3 c.1560C>T p.H520H 1 Nonrecurrent X Specific Non Disease geneSilent Substitution WWC3 c.1440G>A p.P480P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution WWC3 c.1503A>C p.A501A 5 Recurrent X Specific Non Disease geneSilent Substitution WWC3 c.1128T>C p.R376R 3 Recurrent X Specific Non Disease gene

Missense Substitution XG c.178G>A p.D60N 36 Recurrent X Specific Non Disease geneMissense Substitution XK c.872A>G p.N291S 1 Nonrecurrent X Specific Disease geneMissense Substitution XKRX c.596A>G p.Y199C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution XKRX c.995A>G p.Y332C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution XKRX c.1265G>A p.R422H 3 Recurrent X Specific Non Disease geneMissense Substitution XKRX c.128G>A p.R43Q 2 Recurrent X Specific Non Disease gene

Silent Substitution XKRX c.1287A>G p.V429V 1 Nonrecurrent X Specific Non Disease geneSilent Substitution XKRX c.1215G>A p.L405L 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution XPNPEP2 c.644C>T p.T215I 2 Recurrent X Specific Disease geneMissense Substitution XPNPEP2 c.373A>T p.M125L 1 Nonrecurrent X Specific Disease geneMissense Substitution XPNPEP2 c.667G>A p.V223I 2 Recurrent X Specific Disease geneMissense Substitution XPNPEP2 c.988A>G p.M330V 1 Nonrecurrent X Specific Disease gene

Silent Substitution XPNPEP2 c.2022C>T p.V674V 1 Nonrecurrent X Specific Disease geneSilent Substitution XPNPEP2 c.1236C>T p.S412S 1 Nonrecurrent X Specific Disease geneSilent Substitution XPNPEP2 c.447T>C p.P149P 35 Recurrent X Specific Disease geneSilent Substitution XPNPEP2 c.1824C>G p.P608P 6 Recurrent X Specific Disease gene

Missense Substitution YY2 c.622C>T p.P208S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ZBED1 c.1766A>G p.K589R 1 Nonrecurrent PAR Non Disease geneMissense Substitution ZBED1 c.595G>A p.D199N 1 Nonrecurrent PAR Non Disease geneMissense Substitution ZBED1 c.442A>G p.T148A 2 Recurrent PAR Non Disease gene

Silent Substitution ZBED1 c.1872C>T p.S624S 1 Nonrecurrent PAR Non Disease geneSilent Substitution ZBED1 c.1554C>T p.D518D 1 Nonrecurrent PAR Non Disease geneSilent Substitution ZBED1 c.324C>T p.D108D 16 Recurrent PAR Non Disease geneSilent Substitution ZBED1 c.615T>C p.N205N 17 Recurrent PAR Non Disease geneSilent Substitution ZBED1 c.168C>T p.Y56Y 3 Recurrent PAR Non Disease gene

Missense Substitution ZBTB33 c.1478A>G p.Y493C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ZBTB33 c.1595C>G p.P532R 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution ZBTB33 c.411T>G p.P137P 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ZC3H12B c.660A>C p.I220I 1 Nonrecurrent X Specific Non Disease gene

Missense Substitution ZCCHC13 c.182T>C p.V61A 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ZCCHC13 c.39C>T p.G13G 1 Nonrecurrent X Specific Non Disease gene

NonsenseSubstitution ZCCHC13 c.45G>A p.W15* 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ZCCHC5 c.349C>T p.P117S 28 Recurrent X Specific Non Disease geneMissense Substitution ZCCHC5 c.424G>A p.A142T 7 Recurrent X Specific Non Disease geneMissense Substitution ZDHHC9 c.442C>T p.R148W 1 Nonrecurrent X Specific XLMR geneMissense Substitution ZDHHC9 c.448C>T p.P150S 1 Nonrecurrent X Specific XLMR geneIns/Del (out of frame) ZDHHC9 c.175_176insCGCT p.Y59fs*33 1 Nonrecurrent X Specific XLMR gene

Splice ZDHHC9 c.167+5G>C 1 Nonrecurrent X Specific XLMR geneMissense Substitution ZFX c.1870G>A p.A624T 40 Recurrent X Specific Non Disease geneMissense Substitution ZFX c.581A>G p.N194S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ZFX c.911A>G p.N304S 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ZFX c.1954A>G p.I652V 5 Recurrent X Specific Non Disease geneMissense Substitution ZFX c.465T>A p.H155Q 2 Recurrent X Specific Non Disease geneMissense Substitution ZMAT1 c.128G>A p.R43K 2 Recurrent X Specific Non Disease gene

Silent Substitution ZMYM3 c.4065C>T p.R1355R 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ZMYM3 c.3945C>T p.N1315N 2 Recurrent X Specific Non Disease gene

Missense Substitution ZNF182 c.282C>A p.N94K 2 Recurrent X Specific Non Disease geneMissense Substitution ZNF185 c.1315C>G p.R439G 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution ZNF185 c.69G>A p.E23E 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ZNF275 c.499G>A p.V167I 2 Recurrent X Specific Non Disease gene

Silent Substitution ZNF275 c.810C>T p.C270C 107 Recurrent X Specific Non Disease geneMissense Substitution ZNF41 c.1997C>T p.A666V 1 Nonrecurrent X Specific XLMR geneMissense Substitution ZNF41 c.374T>G p.I125R 6 Recurrent X Specific XLMR geneMissense Substitution ZNF41 c.1597A>G p.T533A 1 Nonrecurrent X Specific XLMR gene

Silent Substitution ZNF41 c.1578T>A p.A526A 1 Nonrecurrent X Specific XLMR geneSilent Substitution ZNF41 c.786G>A p.Q262Q 4 Recurrent X Specific XLMR gene

Missense Substitution ZNF449 c.337G>A p.E113K 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ZNF449 c.1068T>C p.C356C 17 Recurrent X Specific Non Disease geneSilent Substitution ZNF449 c.471C>T p.A157A 2 Recurrent X Specific Non Disease gene

Missense Substitution ZNF630 c.430C>T p.R144C 1 Nonrecurrent X Specific Non Disease geneMissense Substitution ZNF630 c.212G>A p.S71N 4 Recurrent X Specific Non Disease geneMissense Substitution ZNF630 c.346T>A p.L116I 1 Nonrecurrent X Specific Non Disease gene

Silent Substitution ZNF630 c.1149C>T p.A383A 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ZNF630 c.1626C>T p.P542P 22 Recurrent X Specific Non Disease geneSilent Substitution ZNF630 c.1671T>C p.H557H 3 Recurrent X Specific Non Disease gene

Missense Substitution ZNF645 c.498C>A p.D166E 18 Recurrent X Specific Non Disease geneSilent Substitution ZNF645 c.624C>T p.I208I 21 Recurrent X Specific Non Disease geneSilent Substitution ZNF645 c.834G>A p.Q278Q 2 Recurrent X Specific Non Disease gene

Missense Substitution ZNF673 c.289A>C p.K97Q 1 Nonrecurrent X Specific Non Disease gene





SiteNNSplice

ScoreSilent Substitution ZNF673 c.355A>C p.R119R 1 Nonrecurrent X Specific Non Disease gene

Ins/Del (out of frame) ZNF711 c.2157_2158delTG p.719fs*1 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ZNF75 c.1434G>A p.T478T 86 Recurrent X Specific Non Disease gene

Missense Substitution ZNF81 c.8C>T p.A3V 2 Recurrent X Specific XLMR geneSilent Substitution ZNF81 c.18C>T p.D6D 1 Nonrecurrent X Specific XLMR geneSilent Substitution ZRSR2 c.864C>T p.N288N 89 Recurrent X Specific Non Disease geneSilent Substitution ZRSR2 c.909C>T p.P303P 5 Recurrent X Specific Non Disease gene

Missense Substitution ZXDA c.2278A>G p.N760D 1 Nonrecurrent X Specific Non Disease geneSilent Substitution ZXDA c.1155C>T p.P385P 13 Recurrent X Specific Non Disease geneSilent Substitution ZXDA c.1272C>T p.F424F 24 Recurrent X Specific Non Disease gene


Supplementary Table 7: Likely MR causing variants identified in XLMR families

Gene Mutation Frequency

AP1S2 IVS3-2 delTACA 1AP1S2 c.106C>T p.Q36X 1AP1S2 c.154C>T p. R52X 1

BRWD3 c.946_947insA p.R316fs*22 1BRWD3 IVS 29 +1G>T 1CUL4B c.1007_1011delTTATA p.I336fs*2 1CUL4B IVS7-2 A>G 1CUL4B c. 2234T>C p. V745A 1CUL4B c.1714C>T p.R572C 1CUL4B c.2493G>A p.T831T 1CUL4B c.2566C>T p. R856X 1CUL4B p.1162>C>T c.R388X 1SLC9A6 c.1402C>T p. R468* 1SLC9A6 c.511_512delAT 1SLC9A6 IVS3+1del4 1UPF3B c.674_677delGAAA p.R225fs*22 1UPF3B c.1288C>T p.R430* 1UPF3B c.867_868delAG p.G290fs*2 1

ZDHHC9 c.175_176insCGCT p.Y59fs*33 1ZDHHC9 c.442C>T p.R148W 1ZDHHC9 c.448C>T p.P150S 1ZDHHC9 IVS1+5G>C 1

CASK c.2129A>G p.D710G 1CASK c.802T>C p.Y268H 1SYP c.274_275insA p.T92fs*45 1

ZNF711 c.2157_2158delTG p.719fs*1 1

ATRX c.6149A>C p.H2050P 1ATRX c.568_576delGCTTTTAAG p.A190_S193>S 1ATRX c.4525C>T p.P1509S 1FTSJ1 Deletion 1GRIA3 c.2117T>C p.M706T 1

HUWE1 Duplication 4HUWE1 c.8612G>A p.R2871H 1HUWE1 c.11707C>T p.R3903W 1HUWE1 c.12229C>T p.R4077C 1

IL1RAPL1 Deletion 2MAOA, MAOB Deletion 1

MECP2 Duplication 7MED12 c.2561A>G p.N854S 1SLC9A6 Deletion 1UBE2A c.215T>C p.F72S 1

Xq13.1-q21.1 Duplication 1Xq24-q25 Duplication 1

Total 53

Mutations in genes identified in

this study

Previously Reported

Unreported

Mutations in known XLMR

genes


Supplementary Table 8: dN/dS scores for the genes on the X chromosome

Gene Silent substitution Missense substitution synonymoushummacq nonsynonymoushummacq Fisher Exact test

ABCB7 1 1 17 12 0.670967ACE2 0 4 81 186 0 239328ACE2 0 4 81 186 0.239328ACSL4 0 1 24 3 0.142857AFF2 0 2 43 24 0.138533

AGTR2 0 1 18 4 0.217391AKAP4 0 1 28 17 0.391304AMELX 0 1 1 2 1AMOT 0 2 56 35 0.15568APEX2 1 1 17 20 0.793522APLN 0 1 2 12 0.999999

AR 2 0 38 8 1ARHGAP6 1 0 58 28 1ARHGEF6 0 2 31 19 0.158371ARMCX1 1 0 18 5 0.999999ARMCX2 1 0 26 12 1ARMCX3 0 1 11 3 0.266666ARMCX5 0 2 20 28 0.355102

ARSE 0 1 57 32 0.366666ARSF 0 2 45 38 0 218487ARSF 0 2 45 38 0.218487ASB12 1 1 20 5 0.401709

ATP11C 1 5 30 11 0.013356ATP1B4 1 2 13 5 0.247368ATP2B3 3 1 134 190 0.198768

ATP6AP2 2 0 11 4 0.999999ATRX 2 5 82 38 0.043644

ATXN3L 0 1 43 31 0.426666AVPR2 2 0 26 13 0 460975AVPR2 2 0 26 13 0.460975BCOR 3 1 98 57 0.84074

BCORL1 2 2 96 25 0.290969BEX2 1 1 6 4 0.681818BEX4 0 1 0 4 1

BHLHB9 1 0 19 15 0.999999BMP15 0 4 19 25 0.122062

BMP2KL 0 1 31 41 1BMX 1 2 22 19 0.465116

BRWD3 0 1 82 82 1C1GALT1C1 0 1 9 1 0.181818

CA5B 1 0 19 6 1CAPN6 2 1 27 23 0.844019CASK 1 2 31 12 0.21581

CCDC120 1 1 34 10 0.42512CCDC22 0 3 26 10 0.036842CD99L2 0 1 13 12 0.499999CDKL5 2 2 37 7 0 154579CDKL5 2 2 37 7 0.154579CDR1 1 2 6 23 0.53629CENPI 1 2 35 63 0.737893CFP 0 2 58 107 0.424644CHM 0 1 24 20 0.466666

CLCN5 0 2 17 2 0.028571CLDN2 0 1 9 2 0.249999CLIC2 0 1 9 4 0.357142

CNGA2 2 2 46 28 0.499826CNGA2 2 2 46 28 0.499826CNKSR2 1 2 27 1 0.018909COL4A6 0 4 110 143 0.10516ENOX2 0 1 23 6 0.233333

CPXCR1 0 2 13 15 0.312643CSTF2 0 1 28 2 0.096774

TMEM187 0 1 29 17 0.382978CXorf15 0 2 24 8 0.080213CXorf21 0 1 8 5 0.428571




CXorf27 0 1 9 22 0.999999CXorf41 1 0 11 16 0 428571CXorf41 1 0 11 16 0.428571CXorf57 1 1 32 5 0.287449CXorf58 1 0 19 26 0.434782CXorf59 0 2 44 126 0.999999CXorf9 0 1 16 6 0.304347DACH2 0 2 30 10 0.076655DDX3X 0 1 21 0 0.045454DDX53 0 2 31 62 0.451511

DGAT2L3 0 1 13 9 0.434782DIAPH2 0 2 51 54 0.271557DLG3 1 1 29 4 0.268907DMD 2 2 186 157 0.748662

DNASE1L1 1 1 27 10 0.489878DRP2 1 2 39 5 0.053962

DUSP21 0 1 9 18 0.999999EDA 1 0 12 6 0.999999

EDA2R 1 0 7 25 0.242424EFHC2 0 2 33 38 0 296803EFHC2 0 2 33 38 0.296803EFNB1 1 1 12 8 0.844155EGFL6 1 2 41 54 0.817746EIF2S3 0 1 18 1 0.1ELK1 1 1 42 36 0.78924EMD 0 1 17 20 1F8 1 4 100 165 0.381462F9 0 1 16 13 0.466666

FAM120C 0 2 22 13 0 157657FAM120C 0 2 22 13 0.157657APOOL 0 1 27 64 0.999999APOO 0 1 5 1 0.285714

FAM122B 2 0 26 51 0.122687FAM3A 1 0 15 11 0.999999FAM47B 0 2 67 144 0.468819FAM47C 0 1 130 237 1FAM50A 1 1 18 4 0.380434FANCB 1 1 34 37 0.732496FGD1 0 2 37 11 0.063673FHL1 0 1 2 0 0.333333

MAP7D3 1 3 34 57 0.850753RP11-217H1 0 1 25 65 1

RP13-102H20 1 1 21 16 0.816464FLNA 3 2 230 26 0.090623FMR1 1 0 33 77 0.306306

FRMD7 1 1 28 39 0.667519FRMPD3 2 4 75 24 0 042162FRMPD3 2 4 75 24 0.042162

FTSJ1 1 1 12 7 0.866666G6PD 0 3 40 8 0.007923GAB3 0 2 23 13 0.149359

GABRQ 2 1 26 19 0.810592GDPD2 0 1 37 34 0.486111GLRA4 0 2 19 11 0.157258GNL3L 1 4 20 15 0.141372GPC4 0 1 19 6 0.26923GPC4 0 1 19 6 0.26923

GPR101 2 1 27 19 0.801671GPR119 0 2 17 15 0.242424GPR174 0 2 11 6 0.163742GPR23 0 1 22 3 0.153846GPR50 1 1 30 30 0.754098GPR64 1 1 33 30 0.776442GRIA3 0 1 24 1 0.076923GRPR 1 1 15 4 0.428571




HDAC6 0 2 42 18 0.100475HDAC8 1 0 10 3 0 999999HDAC8 1 0 10 3 0.999999

HDHD1A 0 1 13 6 0.35HEPH 3 2 48 38 0.73454

HNRPH2 0 1 7 0 0.124999HTATSF1 0 2 30 20 0.174208HTR2C 1 0 15 6 0.999999HUWE1 3 5 121 21 0.00423

IDS 0 3 31 33 0.149044IGBP1 1 2 25 51 0.703764IGSF1 1 5 53 47 0.094203

IL1RAPL1 2 1 30 2 0.242169IL1RAPL2 0 2 28 11 0.095121

IL2RG 0 1 5 10 1IQSEC2 0 3 30 93 0.438955ITIH5L 1 5 68 86 0.182858ITM2A 1 0 7 0 1KCND1 1 1 42 6 0.262857

KIAA1166 0 1 8 0 0 111111KIAA1166 0 1 8 0 0.111111RP13-347D8 2 2 43 99 0.36235

KIAA2022 0 2 49 31 0.158988KIF4A 0 2 48 57 0.30171

KLHL15 1 0 24 1 0.999999KLHL34 1 1 43 24 0.872122KLHL4 0 1 50 69 0.999999LAMP2 1 2 12 12 0.875555LAS1L 0 1 50 115 1LAS1L 0 1 50 115 1

RAB40AL 3 1 15 4 0.654432PRICKLE3 1 0 38 18 1CXORF30 0 1 10 10 0.999999

RP11-262D11 1 2 20 15 0.419155RP11-35F15 0 1 24 45 1

GLOD5 0 1 5 3 0.444444RP11-321G1 1 0 11 12 0.499999

LONRF3 2 2 33 15 0.395604LRCH2 2 2 24 12 0.438122

MAGEA12 1 0 31 43 0.426666MAGEA4 0 2 21 31 0.368972MAGEA8 1 0 21 29 0.431372MAGED1 1 1 37 24 0.84639MAGEE1 2 2 41 39 0.70995MAGEE2 0 2 20 28 0.355102MAGEH1 0 2 13 0 0.009523

MAP3K7IP3 1 0 15 6 0 999999MAP3K7IP3 1 0 15 6 0.999999MBNL3 0 1 4 3 0.499999MCF2 1 2 35 25 0.391856

MED12 0 3 90 15 0.003996MID1 2 0 28 1 0.999999

MORC4 0 1 23 33 1MPP1 2 1 18 5 0.561538

MSL3L1 1 1 28 29 0.745762MTM1 1 1 21 3 0.28923MTM1 1 1 21 3 0.28923

MTMR8 0 3 16 22 0.215759MXRA5 3 7 166 140 0.116907NAP1L3 0 1 12 16 1

NHS 2 3 80 44 0.254364NLGN4X 2 2 58 6 0.065067

NRK 1 5 52 76 0.234395NSBP1 0 1 10 19 0.999999NXF3 2 0 30 37 0.211423




OTC 1 1 9 6 0.845588PASD1 1 2 103 269 0 623752PASD1 1 2 103 269 0.623752

PCDH19 2 2 35 12 0.30042PCYT1B 2 0 16 1 1AIFM1 2 0 117 53 0.477424PDK3 1 1 22 44 0.565408

PFKFB1 0 1 22 7 0.266666PGK1 0 3 17 2 0.006493

PGRMC1 0 1 7 2 0.3PHF16 0 1 22 9 0.312499PHF8 1 1 32 35 0.731457

PHKA2 4 3 66 8 0.049033PIGA 0 1 11 22 0.999999PLP1 1 0 2 1 1PLS3 3 0 14 0 1

PLXNA3 3 1 166 76 0.779746PLXNB3 3 0 148 56 0.386067PNMA3 1 0 20 6 0.999999PNPLA4 1 2 12 8 0 39808PNPLA4 1 2 12 8 0.39808POF1B 0 2 22 15 0.183535POLA1 1 2 37 34 0.479452

POU3F4 1 0 15 2 1PQBP1 0 1 14 2 0.17647PRDX4 1 0 9 4 1PRPS1 2 0 11 0 1PRRG1 0 2 8 3 0.128205PRRG3 1 0 16 6 1PRRG3 1 0 16 6 1PSMD10 0 1 28 48 0.999999RAB39B 1 0 1 0 1RAB40A 0 3 20 12 0.069518RAB41 2 0 8 9 0.263157RAB9B 1 0 5 1 1RAI2 1 0 24 12 0.999999

RBM10 2 0 43 9 0.999999RBM41 1 0 8 5 1RENBP 0 4 30 22 0.040703RGAG1 3 0 44 98 0.032583RNF128 0 1 18 10 0.37931

RPS6KA3 1 2 32 32 0.875086RPS6KA6 1 1 10 5 0.889705

RS1 1 0 12 0 1SATL1 0 2 29 60 0.461782

SERPINA7 1 0 17 14 1SH3KBP1 1 1 26 7 0 4SH3KBP1 1 1 26 7 0.4SHROOM2 5 7 125 157 0.679782SHROOM4 3 5 49 59 0.479532SLC10A3 0 2 34 24 0.183615SLC16A2 1 0 5 18 0.249999

SLC25A14 0 1 15 3 0.210526SLC6A14 2 2 25 19 0.78469SLC7A3 2 4 25 19 0.259118SLC9A6 1 1 22 14 0.85064SLC9A6 1 1 22 14 0.85064

SPANXN4 0 1 23 5 0.206896SMARCA1 1 2 33 0 0.004761

SMC1A 1 0 49 52 0.490196SMS 0 1 17 2 0.15

SPANXN4 1 0 8 16 0.359999SRPK3 0 1 56 18 0.253333SRPX 0 1 20 4 0.2SRPX2 0 1 33 29 0.47619




SYN1 3 0 30 4 1TAF1 2 4 148 215 0 778832TAF1 2 4 148 215 0.778832TAF7L 1 0 34 24 1TAF9B 0 1 6 2 0.333333

TBC1D8B 1 2 47 63 0.813441TBX22 1 0 22 22 1

TCEAL2 0 1 7 20 0.999999TCEAL5 0 2 13 8 0.177865TCEAL8 0 1 3 4 0.999999TEX11 1 2 27 59 0.683086

TEX13A 0 2 26 40 0.377963THOC2 1 1 29 0 0.064516TIMP1 1 1 6 4 0.848484TLR7 0 1 34 24 0.423728TLR8 2 2 42 37 0.736416

TMEM27 0 1 7 11 1TMLHE 1 0 14 6 1

TRO 2 0 48 69 0.174476TRPC5 0 1 33 3 0 108108TRPC5 0 1 33 3 0.108108

TSPAN6 1 0 16 38 0.30909TSPYL2 1 0 50 63 0.447368UBE1 1 0 37 15 1

UBE2A 0 2 2 0 0.166666UBQLN2 1 0 15 4 1UPF3B 1 0 13 2 0.999999UPRT 0 2 9 9 0.289473USP11 3 1 48 12 0 606689USP11 3 1 48 12 0.606689USP26 0 3 39 74 0.288605USP51 0 1 22 16 0.435897USP9X 3 0 99 66 0.221201VSIG4 0 2 23 25 0.28653

WDR44 1 0 25 19 1WNK3 2 3 43 36 0.431609

XK 0 1 14 9 0.416666XKRX 2 2 18 7 0.364026

XPNPEP2 2 2 40 13 0.280701ZBTB33 1 2 16 4 0.155279

ZC3H12B 1 1 18 12 0.842741ZDHHC9 0 2 10 25 1

ZFX 0 3 23 1 0.001367ZNF41 1 2 41 56 0.809177

ZNF449 0 1 18 5 0.25ZNF673 1 1 8 8 1ZNF81 1 0 22 12 1ZNF81 1 0 22 12 1ZXDA 0 1 46 69 1


Family 445AP1S2(NM_003916.3) c.106C>T p.Q36*

*

**/wt

*/wt

*/wt wt wt wt */wt */wt

*/wt

wt * wt*

*/wt*/wt*wtwt

Supplementary Figure 1: Pedigress of families with truncating and read-through variants


Family 502AP1S2(NM_003916.3) c.154C>T p.R52*

*wt *

* **/wt*/wt

*/wt*

*/wt



Family 63AP1S2(NM_003916.3) IVS3-2del(TACA)

* * wt * wt

*/wt wt */wt *

*/wt



Family 322BRWD3 (NM_153252.2) IVS29 +1 G>T

*

*/wt



Family 336BRWD3 (NM_153252.2) c.946_947insA p.R316fs*22

* *

*/wt



Family 42CUL4B(NM_003588.2) c.1007_1011delTTATA p.I336fs*2

* * *

*/wt



Family 307CUL4B(NM_003588.2) c.1162C>T p.R388*

**

*

* *



Family 43CUL4B(NM_003588.2) c.2566C>T p.R856*

* *

* * * *

* *



Family 329CUL4B(NM_003588.2) Exon 7 -2 A>G

* * *



Family 363CUL4B(NM_003588.2) c.2493G>A p.T831Tcryptic splice

*

*



df

Family 32ITIH5L c.607C>T p.R224*

SAGE1 c.621T>A p.C207*

wt*

*/wt*/wt

**

wt*



Family 74ITIH5L (NM_198510.1) IVS7+1ins T

* *

*

wt *



Family 197SLC9A6 (NM_006395.1) c.1402C>T p.R468*SATL1 (XM_291339.4) c.1325G>A p.W442*

wtwt */wt

*wt

**

**

wt*

wt **



Family 227SLC9A6 (NM_006395.1) c.512_513delAT p.H171fs58

*/wt

*/wt

*/wt

* *

*/wt wt */wt



Family 407UPF3B(NM_080632.1) c.674_677delGAAA p.R225fs*22

wt

* *

*/wt

wt



Family 309UPF3B(NM_080632.1) c.867_868delAG p.G290fs*2

wt wt * *

*/wt



Family 62UPF3B(NM_080632.1) c.1288C>T p. R430X

wt* *

*/wt */wt wt *

* wt*/wt



Family 152ZDHHC9(NM_016032.2) c.175_176insCGCT p.Y59fs*33

* *

*/wt



Family 602ZDHHC9(NM_016032.2) IVS3+5G>C

*/wt

* * wt



Family 263ARSF(NM_004042.3) IVS8+5 G>A

* *

wt */wt



*

wt

Family 324ATXN3L (XM_045705.8) c.76G>T p.E26*

wt



Family 232BEXL1 IVS1+1C>T

*/wt

*/wt * * * *



Family 306DRP2(NM_001939.1) IVS10+1G>C

*/wt

*

*/wt

*

*

wt

wt



Family 241FAM47B (NM_152631.1) c.331C>T p.Q111*MECP2 duplication

**

*/wt*/wt

**

**

*/wt*/wt

*/wt*/wt

*/wt*/wt



Family 430MAP3K15 (NM_001001671.1) c.1069C>T p.R357*

wt*

*/wt



*

*

wt

wt

*

Family 141MAP7D3/FLJ12649 IVS9+1 G>C

*/wtwt

wt

wt

*/wt

wt



Family 400P2RY4(NM_002565.2) c.1043G>A p.W348*

* *



* wt

Family 116RPL9P7(OTTHUMT00000056054.1) c.75delT p.I26fs*2



Family 81SSX6 c.111G>A : p.W37*

*wt



Family 438SYTL5(NM_138780.1) c.1633G>T p.G545*

* wt

*/wt



Family 383USP9X(OTTHUMT00000056248.1) c.7505delA p.Q2502fs*18

*/wt

* *

* wt

*/wt



Family 468VSIG4 (NM_007268.1) c.973A>T p.R325*

*/wt

*



Family 267ZCCHC13(NM_203303.1) c.45G>A p.W15*

wt wt*



*

*/wt

Family 581 ZNF183 (NM_006978.1) c.901C>T p.Q301*

wt wt

*/wt */wt

wtwt



Family 577NSDHL(NM_015922.1) c.1098_1099insT p.R367fs*>8

wt */wt */wt wt

*wt**



Family 340CXorf12(NM_003492.1) >c.782delG p.R261fs*1

* *

wt */wt



Supplementary Figure 2. Cumulative conservation scores for non recurrent missense compared to

recurrent missense variants.

Supplementary Figure 2: Cumulative conservation scores for non-recurrent missense compared to recurrent missense variants


Documents

A systematic, large-scale resequencing screen of X ... · A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation Patrick S Tarpey, Raffaella