| 1 | 2491320 | C | A | | A|stop_gained|HIGH|TNFRSF14|ENSG00000157873|Transcript|ENST00000355716|protein_coding|4/8||ENST00000355716.4:c.363C>A|ENSP00000347948.4:p.Cys121Ter|662|363|121|C/*|tgC/tgA|||1||HGNC|11912| |
| 1 | 161645056 | G | A | | A|missense_variant|MODERATE|FCGR2B|ENSG00000072694|Transcript|ENST00000358671|protein_coding|6/8||ENST00000358671.5:c.770G>A|ENSP00000351497.5:p.Gly257Glu|851|770|257|G/E|gGa/gAa|||1||HGNC|3618| |
| 1 | 180849367 | G | A | | A|missense_variant|MODERATE|XPR1|ENSG00000143324|Transcript|ENST00000367590|protein_coding|14/15||ENST00000367590.4:c.1964G>A|ENSP00000356562.4:p.Arg655His|2162|1964|655|R/H|cGc/cAc|||1||HGNC|12827| |
| 1 | 229385607 | C | A | | A|missense_variant|MODERATE|TMEM78|ENSG00000177800|Transcript|ENST00000323223|protein_coding|1/1||ENST00000323223.2:c.166C>A|ENSP00000324799.2:p.Pro56Thr|225|166|56|P/T|Cct/Act|||1||HGNC|32307| |
| 1 | 232615386 | T | G | | G|missense_variant|MODERATE|SIPA1L2|ENSG00000116991|Transcript|ENST00000366630|protein_coding|6/22||ENST00000366630.1:c.2072A>C|ENSP00000355589.1:p.Asn691Thr|2431|2072|691|N/T|aAc/aCc|||-1|cds_start_NF&cds_end_NF|HGNC|23800| |
| 2 | 70910792 | A | AA | | A|frameshift_variant|HIGH|ADD2|ENSG00000075340|Transcript|ENST00000264436|protein_coding|10/16||ENST00000264436.4:c.1056dupT|ENSP00000264436.3:p.Gly353TrpfsTer12|1500-1501|1055-1056|352|F/FX|ttt/ttTt|||-1||HGNC|244|-1 |
| 2 | 77746087 | A | T | | T|stop_gained|HIGH|LRRTM4|ENSG00000176204|Transcript|ENST00000409093|protein_coding|3/4||ENST00000409093.1:c.908T>A|ENSP00000386357.1:p.Leu303Ter|1245|908|303|L/*|tTa/tAa|||-1||HGNC|19411| |
| 2 | 186660821 | C | A | | A|missense_variant|MODERATE|FSIP2|ENSG00000188738|Transcript|ENST00000343098|protein_coding|16/23||ENST00000343098.5:c.9225C>A|ENSP00000344403.5:p.Asn3075Lys|9225|9225|3075|N/K|aaC/aaA|||1||HGNC|21675| |
| 2 | 190608127 | G | A | | A|missense_variant|MODERATE|ANKAR|ENSG00000151687|Transcript|ENST00000520309|protein_coding|21/23||ENST00000520309.1:c.3937G>A|ENSP00000427882.1:p.Asp1313Asn|4025|3937|1313|D/N|Gat/Aat|||1||HGNC|26350| |
| 2 | 216199641 | G | A | | A|splice_acceptor_variant|HIGH|ATIC|ENSG00000138363|Transcript|ENST00000236959|protein_coding||9/15|ENST00000236959.9:c.923-1G>A|||||||||1||HGNC|794| |
| 3 | 38674747 | G | A | | A|missense_variant|MODERATE|SCN5A|ENSG00000183873|Transcript|ENST00000413689|protein_coding|2/28||ENST00000413689.1:c.52C>T|ENSP00000410257.1:p.Arg18Trp|246|52|18|R/W|Cgg/Tgg|||-1||HGNC|10593| |
| 4 | 6037746 | C | T | | T|missense_variant|MODERATE|JAKMIP1|ENSG00000152969|Transcript|ENST00000409021|protein_coding|19/21||ENST00000409021.3:c.2264G>A|ENSP00000386711.3:p.Arg755Gln|2714|2264|755|R/Q|cGg/cAg|||-1||HGNC|26460| |
| 4 | 89199322 | A | T | | T|stop_gained|HIGH|PPM1K|ENSG00000163644|Transcript|ENST00000608933|protein_coding|2/7||ENST00000608933.1:c.414T>A|ENSP00000477341.1:p.Cys138Ter|804|414|138|C/*|tgT/tgA|||-1||HGNC|25415| |
| 4 | 103501730 | G | A | | A|missense_variant|MODERATE|NFKB1|ENSG00000109320|Transcript|ENST00000226574|protein_coding|9/24||ENST00000226574.4:c.769G>A|ENSP00000226574.4:p.Asp257Asn|1236|769|257|D/N|Gac/Aac|||1||HGNC|7794| |
| 5 | 137034098 | C | T | | T|splice_acceptor_variant|HIGH|KLHL3|ENSG00000146021|Transcript|ENST00000309755|protein_coding||3/14|ENST00000309755.4:c.242-1G>A|||||||||-1||HGNC|6354| |
| 5 | 140552607 | C | T | | T|missense_variant|MODERATE|PCDHB7|ENSG00000113212|Transcript|ENST00000231137|protein_coding|1/1||ENST00000231137.3:c.191C>T|ENSP00000231137.3:p.Thr64Ile|365|191|64|T/I|aCt/aTt|||1||HGNC|8692| |
| 5 | 140855898 | C | G | | G|missense_variant|MODERATE|PCDHGC3|ENSG00000240184|Transcript|ENST00000308177|protein_coding|1/4||ENST00000308177.3:c.215C>G|ENSP00000312070.3:p.Ala72Gly|319|215|72|A/G|gCt/gGt|||1||HGNC|8716| |
| 5 | 157216386 | T | C | | C|missense_variant|MODERATE|CLINT1|ENSG00000113282|Transcript|ENST00000523908|protein_coding|11/12||ENST00000523908.1:c.1570A>G|ENSP00000429824.1:p.Met524Val|1743|1570|524|M/V|Atg/Gtg|||-1||HGNC|23186| |
| 5 | 160033805 | G | A | | A|stop_gained|HIGH|ATP10B|ENSG00000118322|Transcript|ENST00000327245|protein_coding|19/26||ENST00000327245.5:c.3127C>T|ENSP00000313600.5:p.Arg1043Ter|3974|3127|1043|R/*|Cga/Tga|||-1||HGNC|13543| |
| 6 | 10796318 | G | T | | T|missense_variant|MODERATE|MAK|ENSG00000111837|Transcript|ENST00000313243|protein_coding|9/14||ENST00000313243.2:c.1056C>A|ENSP00000313021.2:p.Asn352Lys|1439|1056|352|N/K|aaC/aaA|||-1||HGNC|6816| |
| 6 | 26157151 | C | T | | T|missense_variant|MODERATE|HIST1H1E|ENSG00000168298|Transcript|ENST00000304218|protein_coding|1/1||ENST00000304218.3:c.533C>T|ENSP00000307705.3:p.Ala178Val|593|533|178|A/V|gCa/gTa|||1||HGNC|4718| |
| 6 | 26199161 | G | A | | A|missense_variant|MODERATE|HIST1H2AD|ENSG00000196866|Transcript|ENST00000341023|protein_coding|1/1||ENST00000341023.1:c.311C>T|ENSP00000341094.1:p.Ala104Val|311|311|104|A/V|gCt/gTt|||-1||HGNC|4729| |
| 6 | 27114200 | C | G | | G|missense_variant|MODERATE|HIST1H2BK|ENSG00000197903|Transcript|ENST00000396891|protein_coding|1/2||ENST00000396891.4:c.378G>C|ENSP00000380100.4:p.Lys126Asn|420|378|126|K/N|aaG/aaC|||-1||HGNC|13954| |
| 7 | 6449593 | C | T | | T|missense_variant|MODERATE|DAGLB|ENSG00000164535|Transcript|ENST00000297056|protein_coding|15/15||ENST00000297056.6:c.1894G>A|ENSP00000297056.6:p.Gly632Ser|2064|1894|632|G/S|Ggt/Agt|||-1||HGNC|28923| |
| 7 | 45726156 | G | A | | A|missense_variant|MODERATE|ADCY1|ENSG00000164742|Transcript|ENST00000297323|protein_coding|14/20||ENST00000297323.7:c.2338G>A|ENSP00000297323.7:p.Val780Ile|2360|2338|780|V/I|Gtc/Atc|||1||HGNC|232| |
| 7 | 71275464 | C | T | | T|missense_variant|MODERATE|CALN1|ENSG00000183166|Transcript|ENST00000395275|protein_coding|6/7||ENST00000395275.2:c.515G>A|ENSP00000378690.2:p.Arg172Lys|904|515|172|R/K|aGg/aAg|||-1||HGNC|13248| |
| 7 | 80303377 | G | A | | A|missense_variant|MODERATE|CD36|ENSG00000135218|Transcript|ENST00000435819|protein_coding|17/17||ENST00000435819.1:c.1333G>A|ENSP00000399421.1:p.Glu445Lys|2017|1333|445|E/K|Gaa/Aaa|||1||HGNC|1663| |
| 8 | 2024361 | C | T | | T|stop_gained&splice_region_variant|HIGH|MYOM2|ENSG00000036448|Transcript|ENST00000262113|protein_coding|11/37||ENST00000262113.4:c.1261C>T|ENSP00000262113.4:p.Arg421Ter|1402|1261|421|R/*|Cga/Tga|||1||HGNC|7614| |
| 8 | 51449331 | C | T | | T|missense_variant|MODERATE|SNTG1|ENSG00000147481|Transcript|ENST00000522124|protein_coding|11/19||ENST00000522124.1:c.643C>T|ENSP00000429842.1:p.Arg215Cys|1304|643|215|R/C|Cgc/Tgc|||1||HGNC|13740| |
| 8 | 105503259 | C | T | | T|missense_variant|MODERATE|LRP12|ENSG00000147650|Transcript|ENST00000276654|protein_coding|7/7||ENST00000276654.5:c.2222G>A|ENSP00000276654.5:p.Arg741His|2331|2222|741|R/H|cGt/cAt|||-1||HGNC|31708| |
| 8 | 144895885 | C | T | | T|missense_variant|MODERATE|SCRIB|ENSG00000180900|Transcript|ENST00000356994|protein_coding|4/37||ENST00000356994.2:c.368G>A|ENSP00000349486.2:p.Gly123Asp|375|368|123|G/D|gGc/gAc|||-1||HGNC|30377| |
| 10 | 3143603 | G | A | | A|missense_variant|MODERATE|PFKP|ENSG00000067057|Transcript|ENST00000381125|protein_coding|4/22||ENST00000381125.4:c.311G>A|ENSP00000370517.4:p.Arg104Gln|387|311|104|R/Q|cGg/cAg|||1||HGNC|8878| |
| 10 | 106059001 | T | G | | G|missense_variant|MODERATE|GSTO2|ENSG00000065621|Transcript|ENST00000338595|protein_coding|7/7||ENST00000338595.2:c.691T>G|ENSP00000345023.1:p.Phe231Val|1011|691|231|F/V|Ttt/Gtt|||1||HGNC|23064| |
| 11 | 62375157 | C | T | | T|missense_variant|MODERATE|EML3|ENSG00000149499|Transcript|ENST00000394773|protein_coding|11/22||ENST00000394773.2:c.1343G>A|ENSP00000378254.2:p.Arg448Gln|1651|1343|448|R/Q|cGg/cAg|||-1||HGNC|26666| |
| 11 | 107904638 | G | A | | A|splice_donor_variant|HIGH|CUL5|ENSG00000166266|Transcript|ENST00000393094|protein_coding||2/18|ENST00000393094.2:c.134+1G>A|||||||||1||HGNC|2556| |
| 11 | 117789342 | T | C | | C|missense_variant|MODERATE|TMPRSS13|ENSG00000137747|Transcript|ENST00000524993|protein_coding|2/13||ENST00000524993.1:c.233A>G|ENSP00000434279.1:p.Gln78Arg|291|233|78|Q/R|cAg/cGg|||-1||HGNC|29808| |
| 12 | 49419964 | C | T | | T|splice_donor_variant|HIGH|KMT2D|ENSG00000167548|Transcript|ENST00000301067|protein_coding||48/53|ENST00000301067.7:c.15784+1G>A|||||||||-1||HGNC|7133| |
| 12 | 109972420 | G | A | | A|missense_variant|MODERATE|UBE3B|ENSG00000151148|Transcript|ENST00000342494|protein_coding|28/28||ENST00000342494.3:c.3040G>A|ENSP00000340596.3:p.Val1014Ile|3635|3040|1014|V/I|Gtc/Atc|||1||HGNC|13478| |
| 14 | 106329458 | T | A | | A|missense_variant|MODERATE|IGHJ6|ENSG00000211900|Transcript|ENST00000390560|IG_J_gene|1/1||ENST00000390560.2:c.11A>T|ENSP00000419223.1:p.Tyr4Phe|11|11|4|Y/F|tAc/tTc|||-1|cds_start_NF&cds_end_NF|HGNC|5540| |
| 14 | 106725437 | G | T | | T|missense_variant|MODERATE|IGHV3-23|ENSG00000211949|Transcript|ENST00000390609|IG_V_gene|2/2||ENST00000390609.2:c.115C>A|ENSP00000375018.2:p.Leu39Ile|194|115|39|L/I|Ctc/Atc|||-1|cds_end_NF|HGNC|5588| |
| 14 | 106725611 | T | A | | A|missense_variant&splice_region_variant|MODERATE|IGHV3-23|ENSG00000211949|Transcript|ENST00000390609|IG_V_gene|1/2||ENST00000390609.2:c.44A>T|ENSP00000375018.2:p.Lys15Ile|123|44|15|K/I|aAa/aTa|||-1|cds_end_NF|HGNC|5588| |
| 14 | 106725621 | C | T | | T|missense_variant|MODERATE|IGHV3-23|ENSG00000211949|Transcript|ENST00000390609|IG_V_gene|1/2||ENST00000390609.2:c.34G>A|ENSP00000375018.2:p.Ala12Thr|113|34|12|A/T|Gct/Act|||-1|cds_end_NF|HGNC|5588| |
| 14 | 106725638 | C | G | | G|missense_variant|MODERATE|IGHV3-23|ENSG00000211949|Transcript|ENST00000390609|IG_V_gene|1/2||ENST00000390609.2:c.17G>C|ENSP00000375018.2:p.Ser6Thr|96|17|6|S/T|aGc/aCc|||-1|cds_end_NF|HGNC|5588| |
| 15 | 40660816 | CTG | C | | -|frameshift_variant|HIGH|DISP2|ENSG00000140323|Transcript|ENST00000267889|protein_coding|8/8||ENST00000267889.3:c.2507_2508delGT|ENSP00000267889.3:p.Cys836PhefsTer20|2591-2592|2504-2505|835|L/X|cTG/c|||1||HGNC|19712|3 |
| 17 | 6387556 | C | T | | T|missense_variant|MODERATE|PITPNM3|ENSG00000091622|Transcript|ENST00000262483|protein_coding|5/20||ENST00000262483.8:c.331G>A|ENSP00000262483.8:p.Glu111Lys|419|331|111|E/K|Gag/Aag|||-1||HGNC|21043| |
| 17 | 54534249 | G | A | | A|missense_variant|MODERATE|ANKFN1|ENSG00000153930|Transcript|ENST00000318698|protein_coding|11/17||ENST00000318698.2:c.1244G>A|ENSP00000321627.2:p.Arg415His|1279|1244|415|R/H|cGc/cAc|||1||HGNC|26766| |
| 18 | 28648960 | T | A | | A|missense_variant|MODERATE|DSC2|ENSG00000134755|Transcript|ENST00000280904|protein_coding|15/16||ENST00000280904.6:c.2408A>T|ENSP00000280904.6:p.His803Leu|2852|2408|803|H/L|cAt/cTt|||-1||HGNC|3036| |
| 18 | 77896679 | A | T | | T|missense_variant|MODERATE|ADNP2|ENSG00000101544|Transcript|ENST00000262198|protein_coding|4/4||ENST00000262198.4:c.3383A>T|ENSP00000262198.3:p.Glu1128Val|3838|3383|1128|E/V|gAa/gTa|||1||HGNC|23803| |
| 19 | 3531814 | G | A | | A|missense_variant&splice_region_variant|MODERATE|FZR1|ENSG00000105325|Transcript|ENST00000395095|protein_coding|8/13||ENST00000395095.3:c.823G>A|ENSP00000378529.2:p.Gly275Arg|823|823|275|G/R|Ggg/Agg|||1||HGNC|24824| |
| 19 | 4258301 | G | T | | T|missense_variant|MODERATE|CCDC94|ENSG00000105248|Transcript|ENST00000262962|protein_coding|5/8||ENST00000262962.7:c.468G>T|ENSP00000262962.6:p.Glu156Asp|536|468|156|E/D|gaG/gaT|||1||HGNC|25518| |
| 19 | 19261513 | A | G | | G|missense_variant|MODERATE|MEF2B|ENSG00000213999|Transcript|ENST00000162023|protein_coding|6/13||ENST00000162023.5:c.32T>C|ENSP00000162023.5:p.Ile11Thr|504|32|11|I/T|aTc/aCc|||-1||HGNC|6995| |
| 20 | 44507094 | A | T | | T|missense_variant|MODERATE|ZSWIM3|ENSG00000132801|Transcript|ENST00000255152|protein_coding|2/2||ENST00000255152.2:c.1897A>T|ENSP00000255152.2:p.Thr633Ser|2106|1897|633|T/S|Acc/Tcc|||1||HGNC|16157| |
| 20 | 44983586 | T | A | | A|missense_variant|MODERATE|SLC35C2|ENSG00000080189|Transcript|ENST00000372227|protein_coding|7/10||ENST00000372227.1:c.596A>T|ENSP00000361301.1:p.Asp199Val|1137|596|199|D/V|gAc/gTc|||-1||HGNC|17117| |
| 22 | 23223276 | G | A | | A|splice_acceptor_variant|HIGH|IGLV3-1|ENSG00000211673|Transcript|ENST00000390319|IG_V_gene||1/1|ENST00000390319.2:c.47-1G>A|||||||||1|cds_end_NF|HGNC|5896| |
| 22 | 23230327 | G | A | | A|missense_variant|MODERATE|IGLL5|ENSG00000254709|Transcript|ENST00000526893|protein_coding|1/3||ENST00000526893.1:c.94G>A|ENSP00000431254.1:p.Ala32Thr|368|94|32|A/T|Gcc/Acc|||1||HGNC|38476| |
| 22 | 23230366 | C | G | | G|missense_variant|MODERATE|IGLL5|ENSG00000254709|Transcript|ENST00000526893|protein_coding|1/3||ENST00000526893.1:c.133C>G|ENSP00000431254.1:p.Pro45Ala|407|133|45|P/A|Ccg/Gcg|||1||HGNC|38476| |
| X | 34962576 | G | A | | A|missense_variant|MODERATE|FAM47B|ENSG00000189132|Transcript|ENST00000329357|protein_coding|1/1||ENST00000329357.5:c.1628G>A|ENSP00000328307.5:p.Arg543His|1664|1628|543|R/H|cGt/cAt|||1||HGNC|26659| |
| X | 69283008 | C | T | | T|missense_variant|MODERATE|OTUD6A|ENSG00000189401|Transcript|ENST00000338352|protein_coding|1/1||ENST00000338352.2:c.634C>T|ENSP00000339389.2:p.Arg212Cys|668|634|212|R/C|Cgc/Tgc|||1||HGNC|32312| |