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PIK3CA-E542K 50 % AF FFPE Reference Standard curl

PIK3CA-E542K 50 % AF FFPE Reference Standard curl ist ein hervorragend charakterisiertes humanes FFPE-Material, das aus einer menschlichen Zelllinie erzeugt wurde. Hergestellt für FFPE (Gewebe)-Tests in Ihrem Diagnostiklabor oder Ihrer F&E-Abteilung. Informationen über den Mutationsstatus weiterer Gene finden sie auf dieser Produktseite frei zugänglich.

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SKU: SID-000105 Category:

Produktinformation

Diese Produkte sind in idealer Weise geeignet für digitale PCR und/oder Next Generation Sequencing (NGS). Insbesondere zur
– Validierung und Entwicklung von Sequenzierprotokollen (z.B. Amplicon Sequencierung) und PCR-Protokollen
– zur Bestimmung der Nachweisgrenze der Methode
– zur Extraktionskontrolle

– routinemäßige Leistungsüberwachung (Nur für Forschungszwecke)

Produktübersicht

Format: FFPE (Formalin Fixed Paraffin Embedded)

Menge pro Verkaufseinheit: 1 FFPE Schnitt in einem Röhrchen (gerollt)

Erwartete DNA Menge pro Röhrchen: ≥ 400 ng / Schnitt bei Verwendung von Qiagen AllPrep DNA/RNA FFPE kit

Erwartete RNA Menge pro Röhrchen: ≥ 400 ng / Schnitt bei Verwendung von Qiagen AllPrep DNA/RNA FFPE kit

Schnittdicke: 10 µm

Mutationen:

85 krebsrelevante Mutationen in 74 Genen. Liste der mutierten Gene mit spezifischen Mutationen im Anhang unter Dokumente.

Getestet für PIK3CA-E542K (HGVS: c.1624G>A) mit ddPCR zur präzisen Bestimmung der Allelfrequenz.

Das Genom wurde sequenziert und mittels ddPCR orthogenal auf spezifische Mutationen getestet.

Allelfrequenz: 50%

Lagerung: 2-8 °C

Haltbarkeit: 24 Monate nach Herstellungsdatum

Qualitätssicherung (DNA)

Allelfrequenz/Kopienzahl (metrologisch rückverfolgbar): ddPCR (Bio-Rad)

Quantifizierung (metrologisch rückverfolgbar): fluorometrische dsDNA Messung (QuBit)

DNA Quality: Agarose Gelelectrophorese

Qualitätssicherung (RNA)

Quantifizierung: fluorometrische RNA Messung (Qubit)

Qualitätssicherung (weitere)

Zelldichte:

1. Visuell über Durchlichtmikroskopie

2. kalibrierte Messung

Technischer Hintergrund

Ursprung:
humane Zelllinie

 

*GRCh38 COSMICv90

Dokumente

Analysezertifikat

Lot: 00069

Gebrauchsanweisung

Sicherheitsdatenblatt

Zusätzlich enthaltene Mutationen

Zusätzliche Mutationen:

  • in 1090 Genen
  • davon 74 tumorrelevante Gene
  • 1192 Mutationen gesamt
  • 900 Nonsens Mutationen

Übersicht der tumorrelevanten Gene

ALK CARD11 FLNA MAP2K4 NCOR1 PTEN SS18 ZFHX3
ARID1A CCNE1 FOXR1 MAX NFATC2 PTPRK STAT5B ZNF429
ARID1B CNTRL FUBP1 MECOM NSD1 RAC1 STK11 ZNF521
ATM CREBBP GLI1 MITF NTRK3 RAF1 TBL1XR1 ZNRF3
ATRX CSMD3 GNAS MN1 NUMA1 RBM15 TNFRSF14
BCOR CTNND1 JAK1 MTOR PIK3CA ROBO2 TRIM24
BCORL1 EBF1 KAT6B MUC16 PLCG1 RPL22 USP6
BIRC6 EXT1 KMT2A MYCN PPM1D SETD1B USP8
BRCA2 FBXW7 KMT2C MYH9 PRDM16 SMARCA4 WNK2
CACNA1D FGFR3 KMT2D MYOD1 PTCH1 SPECC1 ZBTB16

Liste aller Mutationen

Hugo Symbol Chr Start Position End Position Variant Classification Variant Type Reference Allele Tumor Seq Allele Protein Change Cancer Gene?
ALK 2 29446240 29446240 Missense_Mutation SNP C A p.K1109N yes
ARID1A 1 27105931 27105931 Frame_Shift_Del DEL G – p.G1632fs yes
ARID1A 1 27099947 27099947 Nonsense_Mutation SNP C T p.R1276* yes
ARID1B 6 157527741 157527742 Frame_Shift_Ins INS – G p.G1823fs yes
ATM 11 108206574 108206574 Silent SNP C T p.G2718G yes
ATRX 0 76939924 76939924 Frame_Shift_Del DEL T – p.D275fs yes
BCOR 0 39921444 39921444 Missense_Mutation SNP T C p.N1459S yes
BCORL1 0 129190011 129190011 Frame_Shift_Del DEL C – p.S1679fs yes
BIRC6 2 32641033 32641034 Frame_Shift_Ins INS – A p.E892fs yes
BRCA2 13 32911443 32911443 Frame_Shift_Del DEL A – p.E984fs yes
CACNA1D 3 53842762 53842762 Missense_Mutation SNP C A p.R1946S yes
CARD11 7 2977585 2977585 Missense_Mutation SNP T C p.T367A yes
CCNE1 19 30308135 30308135 Missense_Mutation SNP C T p.T91M yes
CNTRL 9 123924525 123924525 Frame_Shift_Del DEL A – p.E1800fs yes
CREBBP 16 3781779 3781779 Missense_Mutation SNP C T p.E1630K yes
CSMD3 8 113304770 113304770 Silent SNP G A p.C2928C yes
CTNND1 11 57559121 57559121 Silent SNP C T p.N57N yes
EBF1 5 158158108 158158108 Missense_Mutation SNP C T p.R365Q yes
EXT1 8 119122416 119122416 Missense_Mutation SNP C A p.E290D yes
FBXW7 4 153332688 153332688 Missense_Mutation SNP C T p.D90N yes
FGFR3 4 1803175 1803175 Missense_Mutation SNP G A p.C176Y yes
FLNA 0 153589846 153589846 Missense_Mutation SNP C A p.G1013C yes
FLNA 0 153580048 153580048 Silent SNP T C p.S2308S yes
FOXR1 11 118851321 118851321 Missense_Mutation SNP C T p.R245W yes
FUBP1 1 78414858 78414858 Silent SNP C T p.Q636Q yes
GLI1 12 57859630 57859630 Silent SNP G A p.E228E yes
GNAS 20 57429562 57429562 Missense_Mutation SNP G A p.G351E yes
JAK1 1 65305313 65305313 Missense_Mutation SNP T C p.K939E yes
JAK1 1 65306997 65306997 Frame_Shift_Del DEL T – p.K860fs yes
KAT6B 10 76788304 76788304 Missense_Mutation SNP C A p.P1241H yes
KMT2A 11 118374497 118374498 Frame_Shift_Ins INS – T p.F2628fs yes
KMT2C 7 151945349 151945349 Nonsense_Mutation SNP T A p.K724* yes
KMT2D 12 49420108 49420108 Missense_Mutation SNP C T p.R5214H yes
MAP2K4 17 12016658 12016658 Missense_Mutation SNP G A p.G265D yes
MAX 14 65544747 65544747 Missense_Mutation SNP C T p.R60Q yes
MECOM 3 168819875 168819875 Missense_Mutation SNP C T p.R718Q yes
MITF 3 69987095 69987095 Silent SNP A G p.P159P yes
MN1 22 28192958 28192958 Missense_Mutation SNP C T p.A1192T yes
MTOR 1 11187154 11187154 Silent SNP G A p.Y2088Y yes
MUC16 19 9089971 9089971 Missense_Mutation SNP C A p.S615I yes
MUC16 19 9070256 9070256 Silent SNP A G p.H5730H yes
MYCN 2 16082729 16082729 Silent SNP C T p.H181H yes
MYH9 22 36714268 36714268 Missense_Mutation SNP G A p.A404V yes
MYH9 22 36681986 36681986 Missense_Mutation SNP G A p.A1692V yes
MYH9 22 36715619 36715619 Silent SNP C T p.R358R yes
MYOD1 11 17741354 17741354 Missense_Mutation SNP C T p.R9C yes
NCOR1 17 15971343 15971343 Missense_Mutation SNP G A p.P1536S yes
NFATC2 20 50159027 50159027 Frame_Shift_Del DEL G – p.P4fs yes
NFATC2 20 50140024 50140024 Silent SNP C A p.R252R yes
NSD1 5 176720964 176720964 Missense_Mutation SNP C T p.R2199C yes
NSD1 5 176638344 176638344 Frame_Shift_Del DEL G – p.G983fs yes
NSD1 5 176675269 176675269 Frame_Shift_Del DEL A – p.K1530fs yes
NTRK3 15 88669547 88669547 Missense_Mutation SNP C T p.V451I yes
NUMA1 11 71724814 71724814 Missense_Mutation SNP C G p.E1245D yes
PIK3CA 3 178936082 178936082 Missense_Mutation SNP G A p.E542K yes
PLCG1 20 39797734 39797734 Silent SNP C T p.Y833Y yes
PPM1D 17 58677887 58677887 Missense_Mutation SNP A C p.K38Q yes
PRDM16 1 3329348 3329348 Missense_Mutation SNP A G p.M863V yes
PTCH1 9 98211549 98211549 Frame_Shift_Del DEL G – p.P1136fs yes
PTCH1 9 98278973 98278975 In_Frame_Del DEL CTC – p.G43del yes
PTEN 10 89720811 89720812 Frame_Shift_Ins INS – A p.TK321fs yes
PTEN 10 89720712 89720712 Frame_Shift_Del DEL A – p.E288fs yes
PTPRK 6 128319869 128319869 Missense_Mutation SNP T C p.Y891C yes
RAC1 7 6431563 6431563 Missense_Mutation SNP A G p.N39S yes
RAF1 3 12626075 12626075 Missense_Mutation SNP C A p.A629S yes
RBM15 1 110882486 110882486 Silent SNP C T p.S153S yes
ROBO2 3 77651582 77651583 Frame_Shift_Ins INS – A p.Q1026fs yes
RPL22 1 6257785 6257785 Frame_Shift_Del DEL T – p.K16fs yes
SETD1B 12 122242658 122242659 Frame_Shift_Ins INS – C p.P6fs yes
SMARCA4 19 11132438 11132438 Missense_Mutation SNP G A p.R885H yes
SPECC1 17 20149279 20149279 Missense_Mutation SNP G A p.A798T yes
SS18 18 23637587 23637587 Silent SNP C T p.P117P yes
STAT5B 17 40370827 40370827 Silent SNP C T p.Q301Q yes
STK11 19 1220486 1220486 Silent SNP C T p.S193S yes
TBL1XR1 3 176769460 176769460 Missense_Mutation SNP C T p.V87I yes
TNFRSF14 1 2493135 2493135 Missense_Mutation SNP C T p.A192V yes
TRIM24 7 138265332 138265332 Nonsense_Mutation SNP C T p.R871* yes
USP6 17 5042875 5042875 Frame_Shift_Del DEL C – p.F468fs yes
USP8 15 50774263 50774263 Splice_Site SNP G A yes
WNK2 9 96060183 96060183 Silent SNP C T p.I1956I yes
ZBTB16 11 114112938 114112938 Silent SNP G A p.A501A yes
ZFHX3 16 72991949 72991949 Frame_Shift_Del DEL C – p.G699fs yes
ZNF429 19 21719377 21719377 Silent SNP G A p.Q174Q yes
ZNF521 18 22805737 22805737 Silent SNP G A p.D715D yes
ZNRF3 22 29442804 29442804 Missense_Mutation SNP T C p.L282P yes
AASDH 4 57220269 57220269 Frame_Shift_Del DEL A – p.L440fs no/unknown
ABCA1 9 107560746 107560746 Missense_Mutation SNP C G p.V1693L no/unknown
ABCA13 7 48314202 48314202 Missense_Mutation SNP C A p.H1647N no/unknown
ABCB11 2 169887807 169887807 De_novo_Start_OutOfFrame SNP C A no/unknown
ABCB6 2 220079728 220079728 Missense_Mutation SNP C A p.A411S no/unknown
ABCC2 10 101601738 101601738 Missense_Mutation SNP G A p.R1210H no/unknown
ABCC2 10 101604180 101604180 Silent SNP G C p.L1315L no/unknown
ABCD4 14 74754953 74754953 Missense_Mutation SNP C A p.V506L no/unknown
ABCF1 6 30545673 30545678 In_Frame_Del DEL CAGCAA – p.QQ71del no/unknown
ABCG4 11 119027656 119027656 Missense_Mutation SNP G A p.A334T no/unknown
ABHD16B 20 62493921 62493921 Missense_Mutation SNP G A p.R343Q no/unknown
ABR 17 909374 909374 Frame_Shift_Del DEL G – p.P842fs no/unknown
ABTB2 11 34174021 34174021 Silent SNP G A p.S997S no/unknown
AC016251.1 15 96831554 96831554 Missense_Mutation SNP T G p.K36T no/unknown
AC092850.1 12 131781485 131781485 Missense_Mutation SNP C T p.S182L no/unknown
AC138647.1 8 142528400 142528400 Missense_Mutation SNP G A p.G51E no/unknown
ACAN 15 89385036 89385036 Missense_Mutation SNP C T p.T232M no/unknown
ACAP1 17 7245385 7245385 Splice_Site SNP C T p.A77V no/unknown
ACOX3 4 8368710 8368710 Missense_Mutation SNP C T p.G694E no/unknown
ADAM33 20 3653222 3653222 Frame_Shift_Del DEL C – p.A455fs no/unknown
ADAMTS1 21 28214802 28214802 Silent SNP G A p.V311V no/unknown
ADAMTS10 19 8670009 8670009 Missense_Mutation SNP G A p.T108I no/unknown
ADAMTS14 10 72496457 72496457 Missense_Mutation SNP A G p.K503E no/unknown
ADAMTS18 16 77334182 77334182 Silent SNP C T p.E884E no/unknown
ADAMTS3 4 73154481 73154481 Silent SNP C T p.L1012L no/unknown
ADAMTS4 1 161163138 161163138 Silent SNP G A p.H592H no/unknown
ADCK1 14 78288816 78288816 Missense_Mutation SNP G C p.K58N no/unknown
ADCY4 14 24788315 24788315 Missense_Mutation SNP C T p.R982H no/unknown
ADCY4 14 24802011 24802011 Missense_Mutation SNP T C p.S115G no/unknown
ADCY9 16 4164696 4164696 Frame_Shift_Del DEL C – p.V250fs no/unknown
ADD1 4 2895754 2895754 Silent SNP C T p.S175S no/unknown
ADH1A 4 100205725 100205725 Missense_Mutation SNP C T p.C133Y no/unknown
ADNP 20 49508179 49508180 Frame_Shift_Del DEL CT – p.E1024fs no/unknown
ADNP2 18 77893693 77893693 Missense_Mutation SNP A C p.K133Q no/unknown
AFAP1L1 5 148686993 148686993 Silent SNP C A p.S188S no/unknown
AGAP1 2 236403454 236403454 Missense_Mutation SNP C A p.L42M no/unknown
AGO4 1 36274027 36274027 Silent SNP C T p.L4L no/unknown
AGPAT4 6 161653228 161653228 Silent SNP C T p.L6L no/unknown
AGRN 1 982051 982051 Silent SNP C T p.S1062S no/unknown
AHNAK 11 62286425 62286426 Frame_Shift_Ins INS – T p.I5155fs no/unknown
AKAP8 19 15472971 15472971 Missense_Mutation SNP G T p.L418M no/unknown
AKR7A3 1 19611584 19611584 Nonsense_Mutation SNP G A p.Q178* no/unknown
AL031663.2 20 44075428 44075428 Nonsense_Mutation SNP C A p.S101* no/unknown
ALS2 2 202580519 202580519 Missense_Mutation SNP T C p.K1294E no/unknown
AMDHD2 16 2577884 2577884 Missense_Mutation SNP G A p.G176R no/unknown
AMH 19 2251002 2251002 Silent SNP G T p.P273P no/unknown
AMPD3 11 10526115 10526115 Missense_Mutation SNP A G p.Y688C no/unknown
ANKRD30A 10 37508209 37508209 Missense_Mutation SNP T C p.I1134T no/unknown
ANKRD50 4 125593650 125593650 Missense_Mutation SNP T C p.Y261C no/unknown
ANKRD54 22 38229052 38229052 Silent SNP T C p.T211T no/unknown
ANKRD65 1 1355910 1355910 Missense_Mutation SNP C T p.R91H no/unknown
ANO4 12 101504228 101504228 Silent SNP A G p.L732L no/unknown
AOC3 17 41006487 41006487 Silent SNP C T p.A541A no/unknown
AP2A2 11 1000475 1000475 Frame_Shift_Del DEL C – p.A667fs no/unknown
AP2A2 11 1006533 1006533 Missense_Mutation SNP A T p.M738L no/unknown
AP4B1 1 114440478 114440478 Missense_Mutation SNP T G p.N429T no/unknown
APLNR 11 57004290 57004290 Silent SNP T C p.S63S no/unknown
APOE 19 45412184 45412184 Missense_Mutation SNP G A p.A211T no/unknown
APOL4 22 36587510 36587510 Silent SNP A G p.R222R no/unknown
APTX 9 32984705 32984705 Frame_Shift_Del DEL C – p.E246fs no/unknown
AQP12A 2 241631667 241631667 Silent SNP G A p.L100L no/unknown
AQP8 16 25228701 25228701 Silent SNP G A p.L65L no/unknown
AQPEP 5 115298796 115298796 Missense_Mutation SNP C T p.P161L no/unknown
ARHGAP33 19 36278704 36278704 Silent SNP C T p.L1079L no/unknown
ARHGDIA 17 79826298 79826299 Frame_Shift_Ins INS – G p.R222fs no/unknown
ARHGEF11 1 156954137 156954137 Missense_Mutation SNP G A p.R73W no/unknown
ARHGEF33 2 39185269 39185269 Missense_Mutation SNP G A p.D489N no/unknown
ARHGEF37 5 149006707 149006707 Frame_Shift_Del DEL C – p.Y511fs no/unknown
ARHGEF40 14 21550248 21550248 Frame_Shift_Del DEL C – p.T1074fs no/unknown
ARHGEF7 13 111928003 111928003 Missense_Mutation SNP T C p.L487P no/unknown
ARL16 17 79650145 79650146 Frame_Shift_Ins INS – T p.N68fs no/unknown
ASAH2 10 52005188 52005188 Missense_Mutation SNP T A p.T52S no/unknown
ASCC3 6 101098504 101098504 Silent SNP A G p.Y1054Y no/unknown
ASF1B 19 14237016 14237016 Missense_Mutation SNP G A p.A48V no/unknown
ASH1L 1 155448996 155448996 Frame_Shift_Del DEL T – p.K1222fs no/unknown
ASMTL 0 1522190 1522190 Missense_Mutation SNP G A p.A613V no/unknown
ASPDH 19 51017749 51017749 Frame_Shift_Del DEL T – p.K6fs no/unknown
ASTN2 9 119188169 119188169 Silent SNP T C p.S1327S no/unknown
ATAD2B 2 23980626 23980626 Missense_Mutation SNP C T p.S1247N no/unknown
ATAD3A 1 1459260 1459260 Silent SNP A C p.T383T no/unknown
ATF6 1 161816239 161816239 Splice_Site SNP C T p.S396S no/unknown
ATF7IP 12 14619481 14619481 Missense_Mutation SNP T C p.I940T no/unknown
ATF7IP 12 14631255 14631256 Frame_Shift_Ins INS – A p.K983fs no/unknown
ATG16L1 2 234201035 234201035 Missense_Mutation SNP C T p.A528V no/unknown
ATG5 6 106764021 106764021 Silent SNP C T p.T21T no/unknown
ATG9A 2 220088427 220088427 Silent SNP G A p.C493C no/unknown
ATN1 12 7045189 7045189 Frame_Shift_Del DEL C – p.H253fs no/unknown
ATP1A3 19 42490269 42490269 Splice_Site SNP T C p.Q157R no/unknown
ATP2B1 12 90028795 90028795 Missense_Mutation SNP C A p.D214Y no/unknown
ATP6V0A1 17 40653269 40653269 Silent SNP C T p.L651L no/unknown
ATP8A2 13 26127961 26127961 Missense_Mutation SNP T G p.L363R no/unknown
ATP8B3 19 1802029 1802029 Frame_Shift_Del DEL T – p.I360fs no/unknown
B4GALNT4 11 375700 375700 Frame_Shift_Del DEL G – p.V304fs no/unknown
BAI3 6 70098782 70098782 Stop_Codon_Del DEL A – no/unknown
BCAS3 17 59465981 59465981 Frame_Shift_Del DEL A – p.K890fs no/unknown
BCO2 11 112050172 112050172 Missense_Mutation SNP T A p.I87N no/unknown
BDP1 5 70818670 70818670 Missense_Mutation SNP G A p.A1761T no/unknown
BEST2 19 12865458 12865458 Missense_Mutation SNP G A p.V114M no/unknown
BLOC1S4 4 6718351 6718351 Missense_Mutation SNP G A p.E139K no/unknown
BMI1 10 22618193 22618193 Missense_Mutation SNP A G p.K235E no/unknown
BMP6 6 7880293 7880293 Missense_Mutation SNP G A p.A451T no/unknown
BPIFC 22 32810328 32810328 Missense_Mutation SNP G T p.L496M no/unknown
BRICD5 16 2259458 2259458 Missense_Mutation SNP C A p.G230W no/unknown
BRIX1 5 34924957 34924959 In_Frame_Del DEL AGA – p.E225del no/unknown
BSG 19 582524 582524 Missense_Mutation SNP G T p.G369W no/unknown
BSND 1 55470729 55470729 Missense_Mutation SNP G T p.G71V no/unknown
BTAF1 10 93768937 93768937 Missense_Mutation SNP T C p.Y1359H no/unknown
BTLA 3 112218177 112218177 Missense_Mutation SNP G A p.T10I no/unknown
BZRAP1 17 56386500 56386500 Missense_Mutation SNP C T p.G1378D no/unknown
BZRAP1 17 56396497 56396497 Frame_Shift_Del DEL G – p.P491fs no/unknown
C10orf95 10 104210615 104210615 Missense_Mutation SNP G A p.R125W no/unknown
C11orf54 11 93487151 93487151 Missense_Mutation SNP T C p.F93S no/unknown
C12orf55 12 96921201 96921201 Missense_Mutation SNP G A p.A446T no/unknown
C14orf159 14 91655269 91655269 Missense_Mutation SNP G T p.G312V no/unknown
C15orf39 15 75499804 75499804 Frame_Shift_Del DEL C – p.T472fs no/unknown
C1QL3 10 16556649 16556649 Missense_Mutation SNP T G p.S216R no/unknown
C3orf20 3 14731512 14731512 Missense_Mutation SNP G A p.A212T no/unknown
C4orf21 4 113506883 113506884 Splice_Site INS – A no/unknown
C5orf42 5 37213708 37213708 Frame_Shift_Del DEL A – p.L958fs no/unknown
C6 5 41149341 41149346 Splice_Site DEL ACCTGA – p.SG874del no/unknown
C6orf106 6 34622515 34622515 Missense_Mutation SNP C T p.S67N no/unknown
C6orf165 6 88144700 88144700 Frame_Shift_Del DEL A – p.K476fs no/unknown
C7orf55-LUC7L2 7 139090394 139090394 Missense_Mutation SNP A C p.E124A no/unknown
C7orf63 7 89929188 89929188 Frame_Shift_Del DEL A – p.Q622fs no/unknown
C9orf84 9 114453940 114453940 Silent SNP A G p.N1375N no/unknown
CACFD1 9 136333110 136333110 Missense_Mutation SNP G A p.A130T no/unknown
CACNA1C 12 2692090 2692090 Missense_Mutation SNP C A p.L736I no/unknown
CACNA2D4 12 1909211 1909211 Silent SNP G A p.L977L no/unknown
CADM1 11 115099991 115099991 Splice_Site SNP C T p.G188D no/unknown
CALML6 1 1847936 1847936 Silent SNP C T p.F45F no/unknown
CAPN9 1 230914844 230914844 Missense_Mutation SNP G A p.R360H no/unknown
CARM1 19 11032386 11032386 Missense_Mutation SNP G C p.A594P no/unknown
CASC3 17 38324671 38324671 Splice_Site SNP G A no/unknown
CCDC106 19 56163945 56163945 Missense_Mutation SNP G A p.A226T no/unknown
CCDC106 19 56164072 56164072 Missense_Mutation SNP G A p.S268N no/unknown
CCDC108 2 219870862 219870862 Missense_Mutation SNP C A p.W1601C no/unknown
CCDC11 18 47769345 47769345 Silent SNP T G p.R380R no/unknown
CCDC136 7 128455759 128455759 Frame_Shift_Del DEL A – p.E1046fs no/unknown
CCDC150 2 197539057 197539057 Silent SNP T C p.H374H no/unknown
CCDC168 13 103381996 103381996 Frame_Shift_Del DEL A – p.F2388fs no/unknown
CCDC170 6 151865851 151865851 Splice_Site SNP G T p.K196N no/unknown
CCDC37 3 126142183 126142183 Frame_Shift_Del DEL C – p.I367fs no/unknown
CCDC67 11 93127663 93127664 Frame_Shift_Del DEL CT – p.S103fs no/unknown
CCDC8 19 46915570 46915570 Silent SNP C T p.A166A no/unknown
CCDC88B 11 64120659 64120659 Missense_Mutation SNP G A p.E1212K no/unknown
CCDC9 19 47774410 47774410 Frame_Shift_Del DEL C – p.S386fs no/unknown
CCIN 9 36170523 36170523 Missense_Mutation SNP C A p.L342M no/unknown
CCS 11 66373278 66373278 Silent SNP C T p.I259I no/unknown
CCS 11 66367997 66367997 Frame_Shift_Del DEL G – p.G157fs no/unknown
CCT8L2 22 17073094 17073094 Missense_Mutation SNP A G p.L116P no/unknown
CD163L1 12 7525968 7525968 Silent SNP T C p.P1226P no/unknown
CD163L1 12 7527056 7527056 Missense_Mutation SNP C T p.A1131T no/unknown
CD163L1 12 7551142 7551142 Missense_Mutation SNP T G p.S483R no/unknown
CD200R1L 3 112546299 112546299 Silent SNP C T p.V115V no/unknown
CD320 19 8369961 8369961 Silent SNP G A p.C74C no/unknown
CD44 11 35227677 35227677 Missense_Mutation SNP G A p.S434N no/unknown
CDC42BPA 1 227261678 227261678 Silent SNP C T p.L874L no/unknown
CDH24 14 23522781 23522781 Missense_Mutation SNP G A p.P384S no/unknown
CDH8 16 61689480 61689480 Missense_Mutation SNP G T p.S600R no/unknown
CDK14 7 90528642 90528642 Frame_Shift_Del DEL G – p.G181fs no/unknown
CDK5RAP2 9 123199699 123199699 Missense_Mutation SNP T A p.M1277L no/unknown
CDK5RAP2 9 123253737 123253737 Missense_Mutation SNP C T p.E444K no/unknown
CDKL3 5 133634348 133634349 Frame_Shift_Ins INS – A p.F591fs no/unknown
CEBPZ 2 37449668 37449668 Silent SNP A G p.D640D no/unknown
CECR6 22 17600748 17600748 Missense_Mutation SNP G T p.L424M no/unknown
CELA1 12 51733654 51733654 Missense_Mutation SNP G A p.S200F no/unknown
CELF3 1 151680411 151680411 Splice_Site SNP C A p.G163C no/unknown
CELSR2 1 109794176 109794176 Missense_Mutation SNP C A p.T492K no/unknown
CEP44 4 175231110 175231110 Frame_Shift_Del DEL A – p.Q263fs no/unknown
CEP76 18 12699829 12699829 Splice_Site DEL T – p.T99fs no/unknown
CFH 1 196706030 196706030 Silent SNP G T p.R830R no/unknown
CHD7 8 61778453 61778454 Frame_Shift_Ins INS – G p.G2986fs no/unknown
CHD8 14 21859633 21859633 Frame_Shift_Del DEL G – p.R2352fs no/unknown
CHEK1 11 125514123 125514123 Frame_Shift_Del DEL T – p.L355fs no/unknown
CHN1 2 175742817 175742817 Silent SNP A G p.D100D no/unknown
CHRM3 1 240072444 240072444 Frame_Shift_Del DEL A – p.K567fs no/unknown
CHRND 2 233393037 233393037 Frame_Shift_Del DEL C – p.L103fs no/unknown
CHTOP 1 153614889 153614889 Silent SNP C T p.G129G no/unknown
CILP2 19 19656413 19656413 Missense_Mutation SNP G A p.R1020H no/unknown
CIZ1 9 130941105 130941105 Missense_Mutation SNP T C p.T461A no/unknown
CLASRP 19 45567717 45567717 Missense_Mutation SNP G A p.R413H no/unknown
CLEC14A 14 38724508 38724508 Silent SNP G A p.G240G no/unknown
CLEC4A 12 8290760 8290760 Silent SNP T C p.S197S no/unknown
CLK3 15 74919695 74919695 Missense_Mutation SNP C G p.L422V no/unknown
CNGA3 2 99013694 99013694 Frame_Shift_Del DEL A – p.T691fs no/unknown
CNTF 11 58390228 58390228 Start_Codon_SNP SNP G A p.M1I no/unknown
COBL 7 51096840 51096840 Silent SNP C T p.V651V no/unknown
COL14A1 8 121298187 121298187 Missense_Mutation SNP T A p.I1352N no/unknown
COL16A1 1 32138425 32138425 Missense_Mutation SNP C T p.C959Y no/unknown
COL17A1 10 105816801 105816801 Missense_Mutation SNP T C p.K466R no/unknown
COL18A1 21 46925141 46925149 In_Frame_Del DEL GGCCCCCCA – p.GPP1409del no/unknown
COL24A1 1 86578266 86578266 Missense_Mutation SNP C A p.G528V no/unknown
COL4A3 2 228135526 228135526 Frame_Shift_Del DEL A – p.E539fs no/unknown
COL5A1 9 137622314 137622314 Missense_Mutation SNP C T p.S386F no/unknown
COL6A1 21 47423765 47423765 Silent SNP C A p.G975G no/unknown
COL6A2 21 47532319 47532319 Missense_Mutation SNP G A p.R181H no/unknown
CPAMD8 19 17015112 17015112 Missense_Mutation SNP T C p.D1439G no/unknown
CPAMD8 19 17081703 17081703 Frame_Shift_Del DEL G – p.P784fs no/unknown
CPEB4 5 173317365 173317365 Missense_Mutation SNP T C p.F210S no/unknown
CPT2 1 53676083 53676083 Missense_Mutation SNP T C p.L246P no/unknown
CREBRF 5 172535690 172535690 Missense_Mutation SNP G A p.G429D no/unknown
CRIP3 6 43273958 43273958 Splice_Site SNP T C p.E165G no/unknown
CROCC 1 17279824 17279824 Missense_Mutation SNP G A p.E1012K no/unknown
CRYGB 2 209010628 209010628 Missense_Mutation SNP C T p.G41D no/unknown
CRYGS 3 186257242 186257243 Frame_Shift_Ins INS – A p.A56fs no/unknown
CSPG5 3 47618404 47618404 Missense_Mutation SNP C T p.R371Q no/unknown
CSPP1 8 68076627 68076627 Splice_Site SNP G T p.E899D no/unknown
CTAGE9 6 132031185 132031185 Missense_Mutation SNP T C p.N325D no/unknown
CTCFL 20 56078637 56078637 Silent SNP C T p.S565S no/unknown
CTD-2528L19.4 19 38182485 38182485 Silent SNP C T p.R127R no/unknown
CTD-3088G3.8 16 11554350 11554350 Missense_Mutation SNP G C p.L155V no/unknown
CTNNBL1 20 36488406 36488406 Missense_Mutation SNP A G p.M500V no/unknown
CXCR5 11 118764967 118764967 Silent SNP C T p.Y238Y no/unknown
CXorf67 0 51150586 51150586 Missense_Mutation SNP G A p.A240T no/unknown
CYB561A3 11 61117895 61117895 Splice_Site SNP C T no/unknown
CYP19A1 15 51534993 51534993 Nonsense_Mutation SNP C T p.W39* no/unknown
CYP1A2 15 75045560 75045560 Missense_Mutation SNP T C p.I401T no/unknown
CYP26A1 10 94834934 94834934 Missense_Mutation SNP C T p.A245V no/unknown
CYP3A5 7 99273821 99273821 Missense_Mutation SNP G A p.R28C no/unknown
CYP4A22 1 47611595 47611595 Missense_Mutation SNP A G p.N427S no/unknown
CYP4F2 19 16006367 16006367 Frame_Shift_Del DEL G – p.L99fs no/unknown
CYP51A1 7 91763585 91763585 Missense_Mutation SNP G C p.L32V no/unknown
CYS1 2 10199073 10199073 Silent SNP G A p.S128S no/unknown
DCBLD1 6 117869415 117869415 Missense_Mutation SNP G C p.R654T no/unknown
DCHS1 11 6653654 6653654 Missense_Mutation SNP C G p.G1030A no/unknown
DCHS2 4 155410854 155410854 Missense_Mutation SNP C T p.A552T no/unknown
DCTN2 12 57928844 57928844 Frame_Shift_Del DEL T – p.I120fs no/unknown
DDRGK1 20 3172423 3172423 Silent SNP G A p.G239G no/unknown
DDRGK1 20 3171426 3171426 Frame_Shift_Del DEL G – p.P273fs no/unknown
DDX28 16 68056987 68056987 Missense_Mutation SNP A C p.V40G no/unknown
DEFB118 20 29960671 29960672 Frame_Shift_Ins INS – A p.E24fs no/unknown
DENND4A 15 65954295 65954295 Missense_Mutation SNP T C p.Y1829C no/unknown
DEPTOR 8 120940708 120940708 Missense_Mutation SNP T C p.F64S no/unknown
DGKZ 11 46393036 46393036 Splice_Site SNP G A no/unknown
DHX37 12 125435073 125435073 Missense_Mutation SNP A G p.W1003R no/unknown
DHX57 2 39053090 39053090 Silent SNP C G p.G971G no/unknown
DIAPH1 5 140960384 140960384 Missense_Mutation SNP C T p.A251T no/unknown
DIEXF 1 210016802 210016803 Frame_Shift_Ins INS – T p.F597fs no/unknown
DIP2C 10 532435 532435 Missense_Mutation SNP A T p.S41T no/unknown
DISP2 15 40660030 40660030 Silent SNP C T p.L573L no/unknown
DLG5 10 79581419 79581419 Silent SNP G A p.S941S no/unknown
DMXL1 5 118576114 118576114 Splice_Site SNP A G p.R2863R no/unknown
DNAH1 3 52432976 52432978 In_Frame_Del DEL ACA – p.N4069del no/unknown
DNAH11 7 21630855 21630855 Missense_Mutation SNP C T p.T776M no/unknown
DNAH14 1 225341512 225341512 Frame_Shift_Del DEL A – p.K1326fs no/unknown
DNAH17 17 76495175 76495175 Missense_Mutation SNP T C p.K1882R no/unknown
DNAH2 17 7669663 7669663 Missense_Mutation SNP T C p.M1180T no/unknown
DNAH7 2 196729267 196729267 Missense_Mutation SNP T A p.Y2371F no/unknown
DNPEP 2 220246069 220246069 Missense_Mutation SNP C A p.K409N no/unknown
DOCK1 10 129152936 129152936 Silent SNP C T p.Y1055Y no/unknown
DOCK9 13 99515683 99515683 Missense_Mutation SNP T C p.I1136V no/unknown
DPH1 17 1943632 1943632 Silent SNP C T p.G295G no/unknown
DQX1 2 74745647 74745647 Nonsense_Mutation SNP C A p.G694* no/unknown
DRAXIN 1 11775190 11775190 Missense_Mutation SNP C A p.L288M no/unknown
DST 6 56476324 56476324 Frame_Shift_Del DEL A – p.L1499fs no/unknown
DTNBP1 6 15533490 15533490 Silent SNP C T p.L216L no/unknown
DTX1 12 113496148 113496148 Missense_Mutation SNP G A p.V51M no/unknown
DTX3 12 58001075 58001075 Silent SNP C T p.P143P no/unknown
DYNC1I2 2 172546762 172546762 Frame_Shift_Del DEL A – p.K35fs no/unknown
DYNC2H1 11 103325961 103325961 Silent SNP T C p.L4168L no/unknown
DZANK1 20 18377187 18377187 Missense_Mutation SNP T G p.I514L no/unknown
DZANK1 20 18407803 18407803 Splice_Site SNP C A p.E288* no/unknown
DZIP3 3 108363318 108363319 Frame_Shift_Ins INS – A p.K484fs no/unknown
EDA 0 68836350 68836350 Silent SNP G A p.S66S no/unknown
EDA2R 0 65819393 65819393 Frame_Shift_Del DEL C – p.G276fs no/unknown
EFNA4 1 155036328 155036328 Missense_Mutation SNP T C p.V10A no/unknown
EHMT2 6 31860280 31860280 Frame_Shift_Del DEL G – p.P313fs no/unknown
ELOVL2 6 11005710 11005710 Missense_Mutation SNP C A p.W50C no/unknown
EMILIN2 18 2891916 2891916 Silent SNP C T p.T597T no/unknown
EML2 19 46137634 46137634 Missense_Mutation SNP C T p.S92N no/unknown
ENO4 10 118618628 118618629 Frame_Shift_Del DEL AA – p.K208fs no/unknown
ENPP1 6 132182741 132182741 Missense_Mutation SNP G C p.V308L no/unknown
EOGT 3 69056905 69056905 Missense_Mutation SNP T C p.R127G no/unknown
EPB41L4B 9 112018123 112018123 Splice_Site SNP C T p.W310* no/unknown
EPHA1 7 143092215 143092215 Splice_Site SNP C A p.R715M no/unknown
EPHA6 3 96706268 96706268 Missense_Mutation SNP G A p.R182H no/unknown
EPS8L2 11 720201 720201 Missense_Mutation SNP G A p.R102Q no/unknown
ERV3-1 7 64452475 64452475 Missense_Mutation SNP T G p.E310D no/unknown
ERVMER34-1 4 53610220 53610220 Missense_Mutation SNP A G p.W490R no/unknown
ESCO1 18 19155287 19155287 De_novo_Start_OutOfFrame SNP G A no/unknown
ETAA1 2 67630489 67630490 Frame_Shift_Del DEL AG – p.E226fs no/unknown
ETF1 5 137854422 137854422 Missense_Mutation SNP G A p.A74V no/unknown
ETFDH 4 159606272 159606272 Silent SNP T C p.H169H no/unknown
EVC2 4 5682988 5682988 Splice_Site SNP G A p.T290M no/unknown
F12 5 176830927 176830928 Frame_Shift_Del DEL TG – p.HS394fs no/unknown
FADD 11 70049683 70049683 Nonsense_Mutation SNP C T p.Q40* no/unknown
FAM122A 9 71395192 71395193 Frame_Shift_Ins INS – C p.A38fs no/unknown
FAM129B 9 130269545 130269545 Missense_Mutation SNP G A p.P607L no/unknown
FAM133A 0 92964494 92964494 Missense_Mutation SNP G A p.V26M no/unknown
FAM170A 5 118970284 118970284 Missense_Mutation SNP G C p.E281Q no/unknown
FAM170B 10 50340222 50340222 Silent SNP G A p.C96C no/unknown
FAM171A1 10 15255852 15255852 Missense_Mutation SNP G A p.P579S no/unknown
FAM189A2 9 72006568 72006568 Missense_Mutation SNP C T p.R401W no/unknown
FAM196A 10 128973478 128973478 Missense_Mutation SNP T G p.E394D no/unknown
FAM199X 0 103432832 103432832 Missense_Mutation SNP A G p.S281G no/unknown
FAM205A 9 34724801 34724801 Missense_Mutation SNP C G p.E812D no/unknown
FAM221B 9 35819328 35819328 Missense_Mutation SNP C T p.R306H no/unknown
FAM3D 3 58622909 58622910 Frame_Shift_Ins INS – C p.G139fs no/unknown
FAM50B 6 3851019 3851019 Missense_Mutation SNP G A p.R325H no/unknown
FAM53A 4 1657143 1657143 Silent SNP G A p.V148V no/unknown
FAM71B 5 156590323 156590323 Missense_Mutation SNP A G p.I318T no/unknown
FAM84B 8 127569497 127569497 Missense_Mutation SNP C A p.E46D no/unknown
FANCM 14 45645901 45645902 Frame_Shift_Ins INS – A p.AK1315fs no/unknown
FBLN5 14 92361319 92361319 Silent SNP A G p.Y159Y no/unknown
FBN1 15 48762884 48762884 Missense_Mutation SNP C A p.R1469L no/unknown
FBRS 16 30680931 30680939 In_Frame_Del DEL CCTAGGGGC – p.PRG970del no/unknown
FBXL18 7 5540683 5540683 Missense_Mutation SNP C T p.C406Y no/unknown
FBXL8 16 67197569 67197569 Missense_Mutation SNP C T p.A324V no/unknown
FBXO10 9 37532022 37532022 Nonsense_Mutation SNP G A p.R485* no/unknown
FBXO30 6 146125653 146125653 Missense_Mutation SNP C T p.G630D no/unknown
FBXO46 19 46215376 46215376 Missense_Mutation SNP G A p.R460C no/unknown
FBXW12 3 48423495 48423495 Missense_Mutation SNP G A p.M405I no/unknown
FCGRT 19 50028753 50028753 Missense_Mutation SNP T A p.V304D no/unknown
FCHO2 5 72251943 72251943 Missense_Mutation SNP T C p.V7A no/unknown
FCHO2 5 72264329 72264329 Frame_Shift_Del DEL A – p.E13fs no/unknown
FGF19 11 69518134 69518134 Splice_Site SNP T C no/unknown
FHAD1 1 15694086 15694086 Silent SNP T C p.D1072D no/unknown
FOXG1 14 29237126 29237126 Missense_Mutation SNP A G p.N214S no/unknown
FOXQ1 6 1313611 1313611 Silent SNP G A p.A224A no/unknown
FPGS 9 130569706 130569706 Missense_Mutation SNP C A p.L196M no/unknown
FRAS1 4 79238583 79238583 Frame_Shift_Del DEL C – p.S627fs no/unknown
FREM1 9 14788961 14788961 Missense_Mutation SNP G A p.S1378F no/unknown
FSD1 19 4323046 4323046 Missense_Mutation SNP C T p.A368V no/unknown
FSIP2 2 186669672 186669673 Frame_Shift_Ins INS – A p.K5214fs no/unknown
FUT9 6 96651632 96651632 Missense_Mutation SNP G A p.A201T no/unknown
FZD5 2 208632290 208632290 Missense_Mutation SNP C T p.V392M no/unknown
GABBR2 9 101061528 101061528 Silent SNP C A p.L840L no/unknown
GAD2 10 26506849 26506849 Missense_Mutation SNP C T p.A72V no/unknown
GALNT13 2 155099373 155099373 Missense_Mutation SNP C A p.T214K no/unknown
GAPT 5 57790482 57790482 Missense_Mutation SNP G A p.R40Q no/unknown
GBGT1 9 136036868 136036868 Frame_Shift_Del DEL G – p.P41fs no/unknown
GDF1 19 18980054 18980055 In_Frame_Ins INS – GCC p.157_157A>AA no/unknown
GDF7 2 20870506 20870507 Frame_Shift_Ins INS – C p.RP225fs no/unknown
GEMIN4 17 648747 648749 In_Frame_Del DEL CCT – p.E845del no/unknown
GET4 7 933397 933397 Missense_Mutation SNP C T p.T256I no/unknown
GLB1 3 33110341 33110341 Missense_Mutation SNP C T p.G93R no/unknown
GMIP 19 19740960 19740960 Missense_Mutation SNP G A p.R909W no/unknown
GMPR2 14 24707858 24707858 Silent SNP C T p.D307D no/unknown
GNAZ 22 23438340 23438340 Missense_Mutation SNP C T p.A153V no/unknown
GOLGA1 9 127703248 127703248 Splice_Site SNP A C no/unknown
GOLGA3 12 133384816 133384816 Missense_Mutation SNP G A p.A280V no/unknown
GOT1L1 8 37791834 37791834 Frame_Shift_Del DEL T – p.T415fs no/unknown
GP1BA 17 4837526 4837527 Frame_Shift_Del DEL TT – p.F543fs no/unknown
GP2 16 20334264 20334264 Silent SNP G A p.C194C no/unknown
GPATCH8 17 42512492 42512492 Missense_Mutation SNP G A p.R97W no/unknown
GPR161 1 168054819 168054819 Nonsense_Mutation SNP G A p.Q514* no/unknown
GPR64 0 19017988 19017988 Missense_Mutation SNP G A p.P774L no/unknown
GPR97 16 57714457 57714457 Missense_Mutation SNP G A p.R270H no/unknown
GPRASP2 0 101970006 101970006 Missense_Mutation SNP C A p.S70Y no/unknown
GPRC5A 12 13061830 13061830 Missense_Mutation SNP C T p.T216M no/unknown
GPRIN2 10 46999234 46999234 Silent SNP G A p.Q118Q no/unknown
GPX6 6 28474171 28474172 Frame_Shift_Ins INS – A p.G93fs no/unknown
GRB14 2 165365288 165365288 Frame_Shift_Del DEL T – p.K297fs no/unknown
GRK4 4 3015470 3015470 Frame_Shift_Del DEL A – p.Q219fs no/unknown
GRM6 5 178408769 178408769 Silent SNP G A p.Y841Y no/unknown
GRWD1 19 48953769 48953769 Frame_Shift_Del DEL C – p.S223fs no/unknown
GSE1 16 85697044 85697044 Missense_Mutation SNP G T p.R823L no/unknown
GSTT2B 22 24300612 24300612 Missense_Mutation SNP C T p.E129K no/unknown
GUF1 4 44700615 44700615 Frame_Shift_Del DEL A – p.K645fs no/unknown
HADH 4 108910968 108910968 Frame_Shift_Del DEL G – p.P19fs no/unknown
HCFC1 0 153218375 153218375 Missense_Mutation SNP C T p.R1511H no/unknown
HDAC4 2 240011806 240011806 Missense_Mutation SNP T C p.S758G no/unknown
HDAC5 17 42169774 42169774 Silent SNP A T p.V298V no/unknown
HEATR2 7 801405 801405 Missense_Mutation SNP C T p.R496C no/unknown
HEATR2 7 794301 794301 Missense_Mutation SNP A G p.D367G no/unknown
HELZ2 20 62193250 62193251 Frame_Shift_Ins INS – G p.R2206fs no/unknown
HIC1 17 1961895 1961895 Silent SNP G A p.T656T no/unknown
HID1 17 72951907 72951907 Missense_Mutation SNP A G p.I539T no/unknown
HIP1R 12 123338708 123338708 Missense_Mutation SNP G T p.K232N no/unknown
HIST1H2BO 6 27861309 27861309 Silent SNP G A p.Q23Q no/unknown
HLA-DOA 6 32975227 32975227 Silent SNP C T p.V158V no/unknown
HLX 1 221053533 221053533 Silent SNP C T p.L112L no/unknown
HNF1B 17 36104617 36104617 Missense_Mutation SNP C T p.D87N no/unknown
HOGA1 10 99361660 99361660 Missense_Mutation SNP G T p.Q249H no/unknown
HOMEZ 14 23745507 23745507 Silent SNP G T p.G310G no/unknown
HOMEZ 14 23745844 23745844 Missense_Mutation SNP T C p.H198R no/unknown
HOXA2 7 27140816 27140816 Silent SNP G A p.S220S no/unknown
HOXA6 7 27185435 27185435 Missense_Mutation SNP G A p.R182W no/unknown
HOXB3 17 46628490 46628490 Missense_Mutation SNP T C p.S168G no/unknown
HOXC6 12 54422348 54422348 Missense_Mutation SNP G A p.A15T no/unknown
HS6ST2 0 132090922 132090922 Silent SNP G A p.C287C no/unknown
HSPA12B 20 3730868 3730868 Missense_Mutation SNP G T p.R432M no/unknown
HSPB2 11 111784461 111784461 Nonsense_Mutation SNP C T p.R131* no/unknown
HSPG2 1 22155551 22155551 Missense_Mutation SNP G A p.A4005V no/unknown
HSPG2 1 22205524 22205524 Silent SNP G T p.R812R no/unknown
HTT 4 3241640 3241640 Missense_Mutation SNP G A p.A3095T no/unknown
HYDIN 16 70866871 70866871 Nonsense_Mutation SNP G T p.Y4593* no/unknown
HYPK 15 44094002 44094002 Nonstop_Mutation SNP T C p.*130R no/unknown
IARS 9 95009659 95009659 Splice_Site SNP C T p.G931R no/unknown
IDE 10 94294479 94294479 Frame_Shift_Del DEL A – p.L116fs no/unknown
IER5L 9 131939349 131939349 Frame_Shift_Del DEL C – p.G328fs no/unknown
IGFBP4 17 38612787 38612787 Frame_Shift_Del DEL A – p.P243fs no/unknown
IGSF22 11 18735462 18735462 Missense_Mutation SNP T C p.I678V no/unknown
IGSF9B 11 133790156 133790156 Missense_Mutation SNP G A p.P1155L no/unknown
IL1RL1 2 102955491 102955491 Missense_Mutation SNP A G p.T86A no/unknown
IL34 16 70690926 70690926 Missense_Mutation SNP A G p.T102A no/unknown
IL3RA 0 1499948 1499948 Missense_Mutation SNP T C p.I338T no/unknown
ILDR2 1 166890346 166890346 Silent SNP G T p.G494G no/unknown
ILF3 19 10790586 10790586 Missense_Mutation SNP C T p.S281L no/unknown
ILVBL 19 15227314 15227314 Silent SNP C T p.V402V no/unknown
ILVBL 19 15234195 15234195 Missense_Mutation SNP G A p.R110C no/unknown
IMPG2 3 100962675 100962675 Missense_Mutation SNP C T p.G834S no/unknown
INO80B 2 74682558 74682558 Silent SNP G A p.A28A no/unknown
INPP5D 2 233925197 233925197 Silent SNP C A p.P3P no/unknown
INTS3 1 153737536 153737536 Missense_Mutation SNP C T p.A696V no/unknown
INTS9 8 28651368 28651368 Silent SNP A G p.P331P no/unknown
INVS 9 103062934 103062935 Frame_Shift_Ins INS – A p.PK1059fs no/unknown
IPO7 11 9459655 9459655 Missense_Mutation SNP G A p.G840R no/unknown
IQCE 7 2632707 2632707 Silent SNP G A p.L432L no/unknown
IRAK1 0 153282086 153282086 Silent SNP G A p.V346V no/unknown
IRS1 2 227661664 227661664 Frame_Shift_Del DEL C – p.G597fs no/unknown
ITGA10 1 145535758 145535758 Missense_Mutation SNP C A p.T649N no/unknown
ITGA7 12 56091264 56091264 Silent SNP C T p.Q536Q no/unknown
ITGBL1 13 102345019 102345019 Missense_Mutation SNP G T p.R367L no/unknown
ITLN2 1 160922498 160922498 Silent SNP G T p.L35L no/unknown
ITPR3 6 33630419 33630419 Missense_Mutation SNP G A p.A276T no/unknown
IVNS1ABP 1 185269146 185269146 Missense_Mutation SNP C T p.A496T no/unknown
IWS1 2 128238676 128238676 Frame_Shift_Del DEL T – p.S802fs no/unknown
JAG1 20 10639285 10639285 Silent SNP G A p.G175G no/unknown
JMJD1C 10 64968331 64968331 Missense_Mutation SNP G A p.A1033V no/unknown
KANK1 9 711834 711834 Silent SNP C A p.T356T no/unknown
KCNC2 12 75444495 75444495 Nonsense_Mutation SNP C T p.W430* no/unknown
KCNC2 12 75445033 75445033 Missense_Mutation SNP T C p.H251R no/unknown
KCND3 1 112524471 112524471 Missense_Mutation SNP C T p.R293H no/unknown
KCNF1 2 11052860 11052860 Missense_Mutation SNP G A p.G103D no/unknown
KCNF1 2 11053769 11053769 Missense_Mutation SNP T C p.I406T no/unknown
KCNG1 20 49620945 49620945 Silent SNP G A p.F391F no/unknown
KCNH3 12 49937118 49937118 Missense_Mutation SNP C T p.P214S no/unknown
KCNK4 11 64067133 64067133 Frame_Shift_Del DEL C – p.P374fs no/unknown
KCNQ1 11 2610042 2610042 Missense_Mutation SNP C T p.R451W no/unknown
KDELC1 13 103441449 103441449 Silent SNP C T p.L402L no/unknown
KDM2B 12 121880021 121880021 Missense_Mutation SNP T C p.S1075G no/unknown
KDM5B 1 202719791 202719791 Missense_Mutation SNP T A p.D606V no/unknown
KIAA0753 17 6513426 6513426 Missense_Mutation SNP C T p.V534M no/unknown
KIAA0825 5 93807413 93807413 Frame_Shift_Del DEL T – p.K493fs no/unknown
KIAA0947 5 5489281 5489281 Silent SNP G A p.Q2213Q no/unknown
KIAA1549L 11 33628365 33628365 Silent SNP C T p.G1389G no/unknown
KIAA1683 19 18377026 18377026 Missense_Mutation SNP G A p.P442S no/unknown
KIAA1958 9 115421658 115421658 Missense_Mutation SNP G A p.R487H no/unknown
KIAA1958 9 115337325 115337325 Missense_Mutation SNP G A p.S322N no/unknown
KIF12 9 116859604 116859604 Missense_Mutation SNP G A p.A70V no/unknown
KIF1B 1 10335550 10335550 Missense_Mutation SNP G A p.R316Q no/unknown
KIF21B 1 200965458 200965458 Missense_Mutation SNP G A p.R715W no/unknown
KIF24 9 34256349 34256349 Missense_Mutation SNP C A p.G1086W no/unknown
KIF24 9 34257331 34257333 In_Frame_Del DEL CTT – p.K758del no/unknown
KIF3C 2 26177202 26177202 Missense_Mutation SNP T C p.E608G no/unknown
KIFC2 8 145693347 145693347 Frame_Shift_Del DEL G – p.G263fs no/unknown
KL 13 33635196 33635196 Silent SNP C T p.P660P no/unknown
KLB 4 39448569 39448569 Silent SNP G A p.S741S no/unknown
KLHDC4 16 87743140 87743140 Missense_Mutation SNP C T p.G393D no/unknown
KLHL14 18 30275465 30275465 Missense_Mutation SNP A C p.L374V no/unknown
KLHL17 1 898629 898629 Missense_Mutation SNP G A p.G395S no/unknown
KLHL29 2 23865337 23865337 Frame_Shift_Del DEL C – p.T186fs no/unknown
KLHL41 2 170367225 170367225 Missense_Mutation SNP G T p.A313S no/unknown
KLHL9 9 21333344 21333344 Silent SNP T C p.G505G no/unknown
KNOP1 16 19722724 19722724 Frame_Shift_Del DEL T – p.K319fs no/unknown
KPNA3 13 50293910 50293910 Splice_Site SNP C T no/unknown
LAMA1 18 7038862 7038862 Missense_Mutation SNP A G p.F504L no/unknown
LAMC1 1 183072651 183072651 Missense_Mutation SNP G A p.A203T no/unknown
LAMC2 1 183177189 183177189 Missense_Mutation SNP A G p.N85D no/unknown
LAP3 4 17586725 17586725 Frame_Shift_Del DEL A – p.K224fs no/unknown
LAPTM5 1 31230526 31230526 Missense_Mutation SNP C T p.A23T no/unknown
LCE3B 1 152586376 152586376 Silent SNP G T p.L30L no/unknown
LDOC1L 22 44892949 44892949 Missense_Mutation SNP C T p.R163H no/unknown
LETM1 4 1843373 1843373 Nonsense_Mutation SNP C A p.G99* no/unknown
LHFPL5 6 35773513 35773513 Silent SNP G A p.S22S no/unknown
LIG3 17 33326804 33326804 Missense_Mutation SNP C A p.P754T no/unknown
LILRB3 19 54724565 54724565 Missense_Mutation SNP G A p.P364L no/unknown
LIN28B 6 105526394 105526394 Silent SNP C T p.N163N no/unknown
LLGL2 17 73567768 73567768 Silent SNP C T p.L733L no/unknown
LMAN1 18 57022856 57022856 Silent SNP T C p.A83A no/unknown
LMOD3 3 69169055 69169055 Nonsense_Mutation SNP C A p.E151* no/unknown
LMX1A 1 165179940 165179940 Missense_Mutation SNP G A p.A248V no/unknown
LPAR3 1 85331681 85331681 Silent SNP G A p.C41C no/unknown
LPHN1 19 14261850 14261850 Frame_Shift_Del DEL G – p.P1420fs no/unknown
LRFN3 19 36435738 36435738 Missense_Mutation SNP G C p.Q568H no/unknown
LRG1 19 4538016 4538016 Missense_Mutation SNP G A p.T327M no/unknown
LRRC10 12 70003877 70003877 Missense_Mutation SNP C T p.D248N no/unknown
LRRC16A 6 25495373 25495373 Frame_Shift_Del DEL T – p.F420fs no/unknown
LRRC3DN 21 45880003 45880003 Missense_Mutation SNP C A p.L61I no/unknown
LTA4H 12 96421291 96421293 In_Frame_Del DEL AGA – p.S114del no/unknown
LTB4R2 14 24780929 24780929 Silent SNP T C p.G384G no/unknown
LUZP4 0 114541279 114541279 Silent SNP G A p.E284E no/unknown
LYST 1 235973689 235973689 Silent SNP G A p.S143S no/unknown
MAATS1 3 119469914 119469914 Silent SNP G A p.E758E no/unknown
MAD2L1 4 120981393 120981393 Frame_Shift_Del DEL T – p.K166fs no/unknown
MAGEB17 0 16189308 16189308 Missense_Mutation SNP G A p.R268H no/unknown
MAGEC1 0 140993766 140993766 Frame_Shift_Del DEL T – p.G192fs no/unknown
MAGI1 3 65425583 65425591 In_Frame_Del DEL TGCTGCTGT – p.411_414QQQQ>Q no/unknown
MAGI2 7 79082413 79082413 Missense_Mutation SNP G A p.A75V no/unknown
MAK16 8 33347828 33347828 Missense_Mutation SNP A G p.K140E no/unknown
MAMDC4 9 139748991 139748991 Splice_Site SNP G A p.G266D no/unknown
MAN2A2 15 91448587 91448587 Missense_Mutation SNP C T p.A80V no/unknown
MANBA 4 103571738 103571738 Missense_Mutation SNP T C p.T609A no/unknown
MAP1A 15 43815349 43815349 Missense_Mutation SNP C T p.P560S no/unknown
MAP7D1 1 36643530 36643530 Frame_Shift_Del DEL C – p.S479fs no/unknown
MAPK10 4 86950351 86950351 Splice_Site SNP T C p.S417S no/unknown
MAPK4 18 48190638 48190638 Missense_Mutation SNP G A p.V104I no/unknown
MAST2 1 46290188 46290188 Silent SNP T C p.L87L no/unknown
MAST4 5 66084520 66084520 Silent SNP G A p.P180P no/unknown
MATN4 20 43932037 43932037 Missense_Mutation SNP C A p.S253I no/unknown
MBOAT7 19 54682503 54682503 Missense_Mutation SNP G T p.P337H no/unknown
MC3R 20 54824239 54824239 Nonsense_Mutation SNP C T p.Q114* no/unknown
MCF2 0 138697051 138697052 Frame_Shift_Ins INS – A p.S511fs no/unknown
MDN1 6 90387403 90387403 Missense_Mutation SNP C T p.R4142H no/unknown
MDN1 6 90432675 90432675 Splice_Site DEL T – p.K1989fs no/unknown
ME3 11 86159292 86159292 Missense_Mutation SNP C A p.R379S no/unknown
METTL25 12 82824734 82824734 Missense_Mutation SNP T C p.C448R no/unknown
MEX3A 1 156046554 156046554 Silent SNP G T p.G458G no/unknown
MFAP5 12 8814684 8814684 Missense_Mutation SNP G T p.P6H no/unknown
MFSD10 4 2934223 2934223 Missense_Mutation SNP G A p.A183V no/unknown
MFSD6 2 191302046 191302046 Nonsense_Mutation SNP C T p.Q431* no/unknown
MGAM 7 141722239 141722239 Splice_Site SNP A G p.G294G no/unknown
MGAT1 5 180219933 180219933 Silent SNP G A p.G13G no/unknown
MGAT3 22 39884023 39884023 Missense_Mutation SNP G A p.R224H no/unknown
MICAL3 22 18314678 18314679 In_Frame_Ins INS – TCC p.999_999E>EE no/unknown
MIER1 1 67450357 67450357 Missense_Mutation SNP A C p.H438P no/unknown
MIS18BP1 14 45711241 45711241 Frame_Shift_Del DEL T – p.N380fs no/unknown
MIXL1 1 226411634 226411634 Silent SNP G A p.A84A no/unknown
MKS1 17 56290390 56290390 Frame_Shift_Del DEL G – p.H271fs no/unknown
MMP11 22 24123420 24123420 Missense_Mutation SNP C T p.A300V no/unknown
MMRN2 10 88703116 88703116 Silent SNP C T p.L475L no/unknown
MORN1 1 2290123 2290123 Silent SNP C T p.A259A no/unknown
MOSPD2 0 14929518 14929518 Missense_Mutation SNP A G p.T288A no/unknown
MPP3 17 41909321 41909321 Frame_Shift_Del DEL G – p.P10fs no/unknown
MPRIP 17 17077272 17077272 Silent SNP G A p.S824S no/unknown
MRC2 17 60759249 60759249 Silent SNP T C p.P918P no/unknown
MROH8 20 35749325 35749325 Silent SNP A G p.L697L no/unknown
MRPL24 1 156708373 156708373 Missense_Mutation SNP G A p.R42C no/unknown
MRPL4 19 10363330 10363330 Silent SNP C T p.R76R no/unknown
MTA1 14 105936238 105936239 Frame_Shift_Ins INS – G p.R636fs no/unknown
MT-ATP6 0 9064 9064 Missense_Mutation SNP G A p.A180T no/unknown
MT-ATP6 0 9072 9072 Silent SNP A G p.S182S no/unknown
MT-CO1 0 5951 5951 Silent SNP A G p.G16G no/unknown
MT-CO1 0 6071 6071 Silent SNP T C p.V56V no/unknown
MT-CO1 0 6272 6272 Silent SNP A G p.G123G no/unknown
MT-CO1 0 6734 6734 Missense_Mutation SNP G A p.M277I no/unknown
MT-CO2 0 7861 7861 Silent SNP T C p.D92D no/unknown
MT-CO2 0 8027 8027 Missense_Mutation SNP G A p.A148T no/unknown
MT-CO2 0 8087 8087 Silent SNP T C p.L168L no/unknown
MT-CO3 0 9545 9545 Silent SNP A G p.G113G no/unknown
MT-CYB 0 14869 14869 Silent SNP G A p.L41L no/unknown
MT-CYB 0 14911 14911 Silent SNP C T p.Y55Y no/unknown
MT-CYB 0 15520 15520 Silent SNP A G p.L258L no/unknown
MT-CYB 0 15852 15852 Missense_Mutation SNP T C p.I369T no/unknown
MTHFSD 16 86565864 86565864 Missense_Mutation SNP G A p.A302V no/unknown
MT-ND1 0 3594 3594 Silent SNP C T p.V96V no/unknown
MT-ND1 0 3666 3666 Silent SNP G A p.G120G no/unknown
MT-ND1 0 3796 3796 Missense_Mutation SNP A T p.T164S no/unknown
MT-ND1 0 3843 3843 Nonstop_Mutation SNP A G p.*179W no/unknown
MT-ND4 0 10810 10810 Silent SNP T C p.L17L no/unknown
MT-ND4L 0 10586 10586 Silent SNP G A p.S39S no/unknown
MT-ND4L 0 10688 10688 Silent SNP G A p.V73V no/unknown
MT-ND4L 0 10695 10695 Missense_Mutation SNP G A p.A76T no/unknown
MT-ND5 0 12810 12810 Nonstop_Mutation SNP A G p.*158W no/unknown
MT-ND5 0 13105 13105 Missense_Mutation SNP A G p.I257V no/unknown
MT-ND5 0 13485 13485 Missense_Mutation SNP A G p.I383M no/unknown
MT-ND5 0 13506 13506 Silent SNP C T p.Y390Y no/unknown
MT-ND5 0 13650 13650 Silent SNP C T p.P438P no/unknown
MT-ND5 0 13789 13789 Missense_Mutation SNP T C p.Y485H no/unknown
MT-ND5 0 14000 14000 Missense_Mutation SNP T A p.L555Q no/unknown
MT-ND5 0 14034 14034 Silent SNP T C p.I566I no/unknown
MT-ND5 0 14088 14088 Silent SNP T C p.I584I no/unknown
MT-ND5 0 14148 14148 Splice_Site SNP A G p.*604* no/unknown
MT-ND6 0 14178 14178 Missense_Mutation SNP T C p.I166V no/unknown
MT-ND6 0 14370 14370 Silent SNP A G p.L102L no/unknown
MT-ND6 0 14560 14560 Silent SNP G A p.V38V no/unknown
MTR 1 237024474 237024474 Frame_Shift_Del DEL A – p.Q698fs no/unknown
MTSS1L 16 70708311 70708311 Silent SNP G T p.T317T no/unknown
MTTP 4 100534246 100534246 Silent SNP C T p.G722G no/unknown
MTTP 4 100512892 100512893 Frame_Shift_Del DEL AC – p.T262fs no/unknown
MYBL2 20 42315678 42315678 Missense_Mutation SNP C T p.R156C no/unknown
MYBPC2 19 50962378 50962378 Missense_Mutation SNP G A p.R869Q no/unknown
MYBPC3 11 47364203 47364203 Missense_Mutation SNP G A p.A517V no/unknown
MYH10 17 8413194 8413194 Missense_Mutation SNP G A p.A978V no/unknown
MYH13 17 10212891 10212891 Missense_Mutation SNP C T p.R1638H no/unknown
MYH14 19 50720907 50720907 Silent SNP G A p.P147P no/unknown
MYH6 14 23857435 23857435 Silent SNP A G p.L1430L no/unknown
MYLK 3 123426694 123426694 Missense_Mutation SNP C T p.G766D no/unknown
MYO16 13 109792810 109792810 Missense_Mutation SNP C T p.A1395V no/unknown
MYO3A 10 26432471 26432471 Missense_Mutation SNP T C p.L786S no/unknown
MYO7A 11 76867058 76867058 Frame_Shift_Del DEL C – p.P132fs no/unknown
MYPN 10 69935157 69935157 Missense_Mutation SNP A T p.N881I no/unknown
N4BP2L2 13 33110812 33110812 Missense_Mutation SNP C T p.S118N no/unknown
NAGS 17 42082254 42082254 Missense_Mutation SNP G A p.A75T no/unknown
NALCN 13 101710401 101710401 Missense_Mutation SNP C T p.S1638N no/unknown
NALCN 13 101944615 101944615 Missense_Mutation SNP T C p.Y301C no/unknown
NBEAL1 2 204066300 204066300 Missense_Mutation SNP G T p.G2396W no/unknown
NBEAL1 2 203922058 203922058 Frame_Shift_Del DEL A – p.K135fs no/unknown
NCCRP1 19 39688714 39688714 Missense_Mutation SNP C A p.A120E no/unknown
NDOR1 9 140109940 140109940 Missense_Mutation SNP T C p.S419P no/unknown
NDUFC2 11 77784147 77784147 Frame_Shift_Del DEL A – p.F69fs no/unknown
NDUFV3 21 44323715 44323715 Frame_Shift_Del DEL C – p.A198fs no/unknown
NEURL4 17 7228198 7228198 Missense_Mutation SNP G A p.A578V no/unknown
NFIA 1 61892174 61892174 Silent SNP C T p.F486F no/unknown
NHS 0 17744450 17744450 Missense_Mutation SNP C T p.R721C no/unknown
NKTR 3 42678493 42678494 Frame_Shift_Ins INS – A p.E433fs no/unknown
NLRP12 19 54313398 54313398 Silent SNP G A p.N505N no/unknown
NOA1 4 57843457 57843457 Missense_Mutation SNP C G p.E99Q no/unknown
NOBOX 7 144096236 144096236 Missense_Mutation SNP C T p.A426T no/unknown
NOC2L 1 886560 886560 Silent SNP G A p.L464L no/unknown
NOD2 16 50745398 50745399 Frame_Shift_Ins INS – C p.T526fs no/unknown
NOL4 18 31709948 31709948 Missense_Mutation SNP G A p.R101W no/unknown
NOMO1 16 14966170 14966170 Missense_Mutation SNP G A p.V680I no/unknown
NOS2 17 26101359 26101359 Missense_Mutation SNP G T p.P467H no/unknown
NOSIP 19 50059023 50059023 Silent SNP C T p.P297P no/unknown
NOXO1 16 2029843 2029843 Silent SNP C T p.E221E no/unknown
NPAT 11 108043827 108043827 Silent SNP C T p.S628S no/unknown
NPHP4 1 5927913 5927913 Missense_Mutation SNP C T p.C1120Y no/unknown
NRBP1 2 27664587 27664587 Missense_Mutation SNP C T p.R506W no/unknown
NRP1 10 33515153 33515153 Missense_Mutation SNP G T p.T349N no/unknown
NSMAF 8 59547907 59547907 Frame_Shift_Del DEL T – p.I85fs no/unknown
NSUN2 5 6620244 6620244 Nonsense_Mutation SNP G A p.R264* no/unknown
NSUN5 7 72717912 72717912 Silent SNP C T p.Q352Q no/unknown
NUP188 9 131733226 131733226 Frame_Shift_Del DEL G – p.G369fs no/unknown
NXF3 0 102332622 102332622 Missense_Mutation SNP T C p.T502A no/unknown
OBSCN 1 228526003 228526004 Frame_Shift_Ins INS – G p.W6629fs no/unknown
OFD1 0 13764946 13764946 Frame_Shift_Del DEL A – p.A234fs no/unknown
OGFOD2 12 123463629 123463629 Splice_Site SNP G A no/unknown
OPHN1 0 67454374 67454374 Silent SNP C T p.R147R no/unknown
OR1J4 9 125281645 125281645 Missense_Mutation SNP G A p.V76I no/unknown
OR2L5 1 248186018 248186018 Missense_Mutation SNP A G p.T257A no/unknown
OR4A15 11 55135613 55135613 Frame_Shift_Del DEL C – p.S85fs no/unknown
OR4D11 11 59271134 59271134 Frame_Shift_Del DEL T – p.L29fs no/unknown
OR5A1 11 59211206 59211206 Missense_Mutation SNP G T p.A189S no/unknown
OR6C76 12 55820729 55820730 Frame_Shift_Ins INS – A p.RK231fs no/unknown
OR6P1 1 158533299 158533299 Frame_Shift_Del DEL A – p.F32fs no/unknown
ORC1 1 52849500 52849500 Splice_Site SNP A G no/unknown
ORC4 2 148696771 148696771 Missense_Mutation SNP G A p.A299V no/unknown
OTC 0 38260580 38260580 Missense_Mutation SNP G C p.D147H no/unknown
PADI2 1 17405807 17405807 Missense_Mutation SNP C T p.G421D no/unknown
PAH 12 103237473 103237473 Missense_Mutation SNP G A p.P384S no/unknown
PANK4 1 2444353 2444353 Missense_Mutation SNP G T p.F567L no/unknown
PAPD4 5 78938656 78938657 Splice_Site INS – T p.CF225fs no/unknown
PAPD7 5 6742617 6742617 Silent SNP G A p.K91K no/unknown
PAPLN 14 73732131 73732131 Missense_Mutation SNP G A p.R1060Q no/unknown
PARD6B 20 49348349 49348349 Missense_Mutation SNP C T p.A9V no/unknown
PARN 16 14674787 14674787 Silent SNP G A p.S402S no/unknown
PATL1 11 59425146 59425146 Frame_Shift_Del DEL G – p.Q160fs no/unknown
PCDH15 10 55581684 55581684 Silent SNP C T p.K1934K no/unknown
PCDH15 10 55782711 55782711 Missense_Mutation SNP T G p.T823P no/unknown
PCDH8 13 53422381 53422381 Missense_Mutation SNP C T p.R64H no/unknown
PCDHB11 5 140580735 140580735 Missense_Mutation SNP A G p.N463S no/unknown
PCDHB12 5 140589509 140589509 Missense_Mutation SNP G A p.A344T no/unknown
PCDHB7 5 140554319 140554319 Missense_Mutation SNP G A p.A635T no/unknown
PCDHB7 5 140554432 140554432 Silent SNP G T p.R672R no/unknown
PCDHB7 5 140554452 140554452 Missense_Mutation SNP A C p.D679A no/unknown
PCDHGA11 5 140801598 140801598 Silent SNP G A p.T268T no/unknown
PCDHGA5 5 140745836 140745836 Missense_Mutation SNP G A p.E647K no/unknown
PCDHGA8 5 140772832 140772832 Missense_Mutation SNP G T p.R151L no/unknown
PCDHGB7 5 140798559 140798559 Frame_Shift_Del DEL A – p.E378fs no/unknown
PCDHGC3 5 140857963 140857963 Silent SNP G T p.V760V no/unknown
PCLO 7 82582944 82582944 Frame_Shift_Del DEL T – p.K2442fs no/unknown
PCNXL2 1 233270937 233270937 Splice_Site SNP C T no/unknown
PCNXL3 11 65385706 65385706 Silent SNP G A p.T291T no/unknown
PCSK1 5 95735707 95735707 Silent SNP G A p.S460S no/unknown
PCSK5 9 78855593 78855593 Silent SNP C T p.C1045C no/unknown
PDE3B 11 14889160 14889160 Missense_Mutation SNP C A p.L999M no/unknown
PDS5B 13 33258137 33258137 Nonsense_Mutation SNP A T p.R394* no/unknown
PDS5B 13 33306277 33306278 Frame_Shift_Ins INS – C p.P722fs no/unknown
PDZD3 11 119058071 119058071 Silent SNP A G p.E207E no/unknown
PEX10 1 2343833 2343833 Missense_Mutation SNP C T p.A37T no/unknown
PEX11G 19 7550859 7550859 Silent SNP C T p.Q38Q no/unknown
PFKFB3 10 6268237 6268237 Missense_Mutation SNP G A p.R475H no/unknown
PFKP 10 3155619 3155619 Missense_Mutation SNP C T p.A427V no/unknown
PGR 11 100998502 100998502 Missense_Mutation SNP G A p.P434S no/unknown
PHC3 3 169846979 169846979 Silent SNP A G p.H415H no/unknown
PHF2 9 96422612 96422612 Frame_Shift_Del DEL A – p.K492fs no/unknown
PHF20 20 34528804 34528804 Frame_Shift_Del DEL A – p.K912fs no/unknown
PHKA2 0 18917324 18917324 Silent SNP G A p.A1026A no/unknown
PHLDB3 19 43998916 43998916 Missense_Mutation SNP C T p.V363M no/unknown
PHRF1 11 608233 608233 Missense_Mutation SNP A G p.Q926R no/unknown
PLA2G12A 4 110650917 110650917 Missense_Mutation SNP C T p.A17T no/unknown
PLA2G2F 1 20471111 20471111 Missense_Mutation SNP T C p.F118S no/unknown
PLA2G4E 15 42287669 42287669 Missense_Mutation SNP G A p.T379I no/unknown
PLAT 8 42038199 42038199 Silent SNP G T p.T298T no/unknown
PLCB4 20 9417736 9417736 Missense_Mutation SNP A C p.S889R no/unknown
PLCE1 10 95993930 95993930 Missense_Mutation SNP C T p.T692I no/unknown
PLD1 3 171406586 171406586 Silent SNP C T p.S473S no/unknown
PLD4 14 105398144 105398144 Silent SNP G A p.A326A no/unknown
PLD6 17 17109563 17109563 Missense_Mutation SNP G T p.A13D no/unknown
PLEC 8 144995619 144995619 Silent SNP T C p.Q2927Q no/unknown
PLEKHA6 1 204228464 204228464 Missense_Mutation SNP T C p.Q310R no/unknown
PLEKHG4 16 67322127 67322127 Missense_Mutation SNP T C p.L1093P no/unknown
PLLP 16 57318438 57318438 Silent SNP C T p.P5P no/unknown
PLP2 0 49029556 49029556 Silent SNP T C p.L59L no/unknown
PLXNA3 0 153695611 153695611 Missense_Mutation SNP A G p.K1080E no/unknown
PLXNA3 0 153696202 153696202 Frame_Shift_Del DEL G – p.A1226fs no/unknown
PLXNA4 7 131849897 131849897 Missense_Mutation SNP A C p.L1450R no/unknown
PLXNB2 22 50726389 50726389 Silent SNP G A p.C486C no/unknown
PLXNB3 0 153038408 153038408 Missense_Mutation SNP G A p.R948Q no/unknown
PLXNC1 12 94642029 94642030 Frame_Shift_Ins INS – A p.K874fs no/unknown
PLXND1 3 129294398 129294398 Missense_Mutation SNP G A p.T815M no/unknown
PLXND1 3 129308277 129308277 Missense_Mutation SNP G T p.P469T no/unknown
PM20D1 1 205819090 205819090 Silent SNP C T p.S37S no/unknown
PNMT 17 37825959 37825959 Missense_Mutation SNP T C p.F94L no/unknown
PODXL2 3 127358234 127358234 Missense_Mutation SNP G T p.G73W no/unknown
POLR2B 4 57887117 57887118 Frame_Shift_Del DEL CT – p.S793fs no/unknown
POLR2J3 7 102180468 102180468 Nonsense_Mutation SNP G A p.Q186* no/unknown
POLR3B 12 106897897 106897897 Missense_Mutation SNP G A p.R1046H no/unknown
POMP 13 29238674 29238674 Missense_Mutation SNP C T p.P44S no/unknown
POP5 12 121017208 121017208 Silent SNP C G p.R135R no/unknown
POR 7 75611583 75611583 Missense_Mutation SNP C T p.A258V no/unknown
POTEC 18 14534944 14534944 Silent SNP T C p.L291L no/unknown
POU2F3 11 120180198 120180198 Missense_Mutation SNP T C p.V324A no/unknown
PPAPDC1B 8 38126465 38126465 Nonsense_Mutation SNP C A p.E40* no/unknown
PPFIA3 19 49636271 49636271 Missense_Mutation SNP G A p.R298Q no/unknown
PPIP5K2 5 102494235 102494235 Silent SNP T C p.S565S no/unknown
PPM1K 4 89186173 89186173 Missense_Mutation SNP C T p.A323T no/unknown
PPM1N 19 46003742 46003742 Silent SNP C T p.P362P no/unknown
PPP1R18 6 30653629 30653629 Missense_Mutation SNP C T p.G56E no/unknown
PPP1R26 9 138379043 138379043 Frame_Shift_Del DEL G – p.R896fs no/unknown
PPP1R9A 7 94740600 94740600 Silent SNP T C p.Y475Y no/unknown
PPP2R2B 5 146460888 146460888 De_novo_Start_OutOfFrame SNP G A no/unknown
PPP3CA 4 102030141 102030141 Silent SNP G A p.D118D no/unknown
PPP4R1 18 9588105 9588105 Silent SNP C A p.V189V no/unknown
PPP4R1L 20 56846506 56846507 Frame_Shift_Ins INS – A p.L116fs no/unknown
PPP6R1 19 55752648 55752648 Missense_Mutation SNP T C p.T374A no/unknown
PRAMEF21 1 13521968 13521968 Splice_Site SNP G T no/unknown
PRB4 12 11461699 11461699 Missense_Mutation SNP G T p.P73H no/unknown
PRDM15 21 43221685 43221685 Silent SNP G A p.T1413T no/unknown
PREX1 20 47266679 47266679 Silent SNP C T p.P961P no/unknown
PRKAA2 1 57171811 57171811 Missense_Mutation SNP C T p.T447I no/unknown
PRKRIP1 7 102038104 102038104 Missense_Mutation SNP G T p.W55L no/unknown
PRKRIR 11 76066677 76066677 Silent SNP G A p.L114L no/unknown
PRMT1 19 50185225 50185225 Missense_Mutation SNP G A p.R66Q no/unknown
PRMT7 16 68389700 68389700 Silent SNP C A p.S575S no/unknown
PROX1 1 214170585 214170585 Missense_Mutation SNP G A p.R236H no/unknown
PRR11 17 57247178 57247178 Missense_Mutation SNP A G p.K22R no/unknown
PRR23A 3 138724564 138724564 Missense_Mutation SNP C T p.A183T no/unknown
PRR3 6 30529648 30529648 Silent SNP G A p.L69L no/unknown
PRR7 5 176882413 176882413 Silent SNP A G p.P115P no/unknown
PRRT4 7 127999713 127999713 Silent SNP A G p.T111T no/unknown
PRRT4 7 128000034 128000034 Silent SNP A G p.H4H no/unknown
PRUNE2 9 79323604 79323604 Missense_Mutation SNP T C p.T1196A no/unknown
PSMD5 9 123586803 123586803 Silent SNP A G p.N325N no/unknown
PSMD5 9 123605150 123605150 Missense_Mutation SNP G A p.A13V no/unknown
PSPC1 13 20346382 20346382 Splice_Site SNP G A p.T225M no/unknown
PTCHD2 1 11596419 11596419 Silent SNP C T p.A1285A no/unknown
PTER 10 16547126 16547126 Missense_Mutation SNP T C p.I269T no/unknown
PTGER3 1 71478096 71478096 Missense_Mutation SNP T G p.K323N no/unknown
PTGER3 1 71512993 71512993 Silent SNP G A p.L90L no/unknown
PTGER4 5 40681142 40681142 Missense_Mutation SNP G A p.R16Q no/unknown
PTPRE 10 129839198 129839198 Missense_Mutation SNP G T p.R18M no/unknown
PTPRU 1 29630483 29630483 Missense_Mutation SNP C T p.R875C no/unknown
PUM2 2 20453683 20453683 Missense_Mutation SNP C T p.S990N no/unknown
PXDNL 8 52322116 52322116 Missense_Mutation SNP G A p.R690W no/unknown
PYGL 14 51382068 51382068 Silent SNP G A p.I463I no/unknown
QSOX1 1 180165407 180165407 Silent SNP C T p.S493S no/unknown
R3HCC1L 10 99969460 99969460 Missense_Mutation SNP C A p.T530K no/unknown
RAB11FIP1 8 37729938 37729938 Missense_Mutation SNP C A p.M794I no/unknown
RABL6 9 139726256 139726256 Missense_Mutation SNP G A p.G181D no/unknown
RAD51C 17 56774213 56774213 Silent SNP G A p.K188K no/unknown
RAPGEF1 9 134471723 134471723 Missense_Mutation SNP T C p.D698G no/unknown
RAPGEF6 5 130815369 130815369 Frame_Shift_Del DEL T – p.S640fs no/unknown
RASL10A 22 29709852 29709852 Splice_Site SNP C T p.R115K no/unknown
RAX2 19 3772010 3772011 Splice_Site DEL TG – no/unknown
RBBP6 16 24580390 24580390 Silent SNP T C p.R793R no/unknown
RBBP9 20 18470410 18470410 Nonstop_Mutation SNP A T p.*187K no/unknown
RBCK1 20 411059 411059 Silent SNP T C p.C506C no/unknown
RBL2 16 53476704 53476704 Frame_Shift_Del DEL T – p.I169fs no/unknown
RBM25 14 73576197 73576197 Missense_Mutation SNP G T p.Q563H no/unknown
RBM27 5 145647320 145647320 Frame_Shift_Del DEL A – p.K816fs no/unknown
RBMXL1 1 89448394 89448394 Silent SNP T C p.R372R no/unknown
RCBTB2 13 49084844 49084844 Missense_Mutation SNP C T p.A283T no/unknown
REEP4 8 21996959 21996959 Silent SNP G A p.A129A no/unknown
RELN 7 103136278 103136278 Silent SNP G A p.G3087G no/unknown
REPS2 0 17040316 17040316 Silent SNP G A p.L156L no/unknown
RFFL 17 33334419 33334420 De_novo_Start_OutOfFrame INS – CAT no/unknown
RFX1 19 14073942 14073942 Missense_Mutation SNP T C p.M906V no/unknown
RFX2 19 6001876 6001876 Silent SNP G T p.P603P no/unknown
RFX6 6 117250017 117250017 Frame_Shift_Del DEL C – p.P833fs no/unknown
RGS6 14 72985220 72985220 Missense_Mutation SNP G A p.G418E no/unknown
RHOBTB3 5 95067785 95067785 Silent SNP C G p.V75V no/unknown
RIC3 11 8132507 8132507 Missense_Mutation SNP G A p.T283I no/unknown
RIF1 2 152321207 152321207 Missense_Mutation SNP A G p.R1725G no/unknown
RIMS1 6 72892103 72892103 Missense_Mutation SNP G A p.R310H no/unknown
RIN3 14 93022171 93022171 Silent SNP G A p.P40P no/unknown
RNF113A 0 119004592 119004592 Missense_Mutation SNP A G p.S329P no/unknown
RNF175 4 154631556 154631556 Missense_Mutation SNP C T p.V318I no/unknown
RNPC3 1 104086058 104086058 Frame_Shift_Del DEL A – p.E345fs no/unknown
RNPS1 16 2314305 2314305 Silent SNP G A p.D33D no/unknown
ROBO3 11 124740169 124740169 Missense_Mutation SNP G A p.R292H no/unknown
ROBO3 11 124745916 124745916 Missense_Mutation SNP G A p.A830T no/unknown
RP11-108K14.8 10 135233645 135233645 Frame_Shift_Del DEL C – p.H332fs no/unknown
RP11-407N17.3 14 39746243 39746243 Frame_Shift_Del DEL T – p.F593fs no/unknown
RP11-683L23.1 18 47907 47907 Missense_Mutation SNP A G p.L239P no/unknown
RPGRIP1L 16 53726115 53726115 Frame_Shift_Del DEL T – p.N131fs no/unknown
RPL12 9 130211976 130211976 Frame_Shift_Del DEL T – p.K41fs no/unknown
RPS7 2 3624171 3624171 Missense_Mutation SNP G A p.R81H no/unknown
RRAS2 11 14316390 14316390 Missense_Mutation SNP T A p.Q72L no/unknown
RSAD1 17 48557447 48557447 Splice_Site SNP T C no/unknown
RTTN 18 67809622 67809622 Splice_Site SNP A G p.L828S no/unknown
RUSC1 1 155295124 155295124 Silent SNP C T p.S517S no/unknown
RXRA 9 137300039 137300040 Frame_Shift_Ins INS – C p.P109fs no/unknown
RYR2 1 237777998 237777998 Missense_Mutation SNP C T p.P1857L no/unknown
RYR3 15 33795932 33795932 Missense_Mutation SNP G A p.G91D no/unknown
SAAL1 11 18112002 18112002 Missense_Mutation SNP G T p.P151H no/unknown
SACS 13 23912864 23912864 Frame_Shift_Del DEL T – p.K1717fs no/unknown
SALL3 18 76752290 76752290 Missense_Mutation SNP C T p.A100V no/unknown
SAMD9 7 92731574 92731574 Frame_Shift_Del DEL T – p.K1279fs no/unknown
SAR1B 5 133942701 133942701 Missense_Mutation SNP C T p.S179N no/unknown
SATB1 3 18435974 18435974 Missense_Mutation SNP C T p.V396M no/unknown
SATL1 0 84363369 84363383 In_Frame_Del DEL GCCTGGTTGTTGCAC – p.VQQPG198del no/unknown
SBF2 11 9838397 9838397 Missense_Mutation SNP G A p.S1323L no/unknown
SBF2 11 10019915 10019915 Silent SNP G A p.I291I no/unknown
SCCPDH 1 246923358 246923358 Missense_Mutation SNP G A p.G305R no/unknown
SCG2 2 224462902 224462902 Missense_Mutation SNP C G p.E367Q no/unknown
SCN7A 2 167301417 167301417 Missense_Mutation SNP A G p.L494S no/unknown
SCN8A 12 52168047 52168047 Silent SNP C T p.T1240T no/unknown
SCNN1D 1 1223064 1223064 Missense_Mutation SNP G A p.V307I no/unknown
SDK1 7 4247860 4247860 Missense_Mutation SNP A G p.N1782D no/unknown
SEC14L2 22 30803557 30803557 Missense_Mutation SNP C G p.L130V no/unknown
SEC23IP 10 121658028 121658028 Missense_Mutation SNP C A p.Q85K no/unknown
SEC24C 10 75523358 75523358 Splice_Site SNP A C p.Q366H no/unknown
SEC61A2 10 12203037 12203037 Missense_Mutation SNP G A p.V362I no/unknown
SEMA4A 1 156146374 156146374 Nonsense_Mutation SNP C A p.C624* no/unknown
SEMA6A 5 115814385 115814385 Missense_Mutation SNP G A p.T427I no/unknown
SEMA6C 1 151109506 151109506 Silent SNP G A p.G267G no/unknown
SEPN1 1 26128523 26128523 Silent SNP C T p.T106T no/unknown
SERPIND1 22 21141302 21141302 Missense_Mutation SNP G A p.R483H no/unknown
SETD8 12 123879808 123879808 Frame_Shift_Del DEL A – p.R168fs no/unknown
SETMAR 3 4355168 4355168 Missense_Mutation SNP C T p.A248V no/unknown
SHISA9 16 13297262 13297262 Missense_Mutation SNP A G p.M235V no/unknown
SHPK 17 3514218 3514218 Missense_Mutation SNP G T p.A358D no/unknown
SIDT2 11 117053274 117053274 Missense_Mutation SNP A T p.I186F no/unknown
SIDT2 11 117054573 117054573 Missense_Mutation SNP C T p.P261S no/unknown
SIPA1L3 19 38572339 38572339 Missense_Mutation SNP G A p.S45N no/unknown
SIX3 2 45169430 45169432 In_Frame_Del DEL GGC – p.G69del no/unknown
SKA3 13 21735931 21735932 Frame_Shift_Ins INS – T p.S276fs no/unknown
SLC12A2 5 127474311 127474311 Silent SNP T C p.F477F no/unknown
SLC13A1 7 122769515 122769515 Missense_Mutation SNP C T p.C318Y no/unknown
SLC16A14 2 230914524 230914524 Missense_Mutation SNP T C p.Y119C no/unknown
SLC17A5 6 74331659 74331659 Missense_Mutation SNP C A p.W282C no/unknown
SLC19A1 21 46951872 46951872 Missense_Mutation SNP C T p.S127N no/unknown
SLC22A11 11 64335251 64335251 Silent SNP C A p.G413G no/unknown
SLC22A25 11 62985086 62985086 Missense_Mutation SNP T C p.T210A no/unknown
SLC22A7 6 43267789 43267789 Missense_Mutation SNP G A p.G271D no/unknown
SLC25A12 2 172690524 172690524 Missense_Mutation SNP G T p.P265Q no/unknown
SLC25A25 9 130869684 130869684 Silent SNP C T p.Y457Y no/unknown
SLC26A4 7 107329642 107329642 Silent SNP C T p.N382N no/unknown
SLC26A7 8 92261932 92261932 Frame_Shift_Del DEL C – p.T18fs no/unknown
SLC26A8 6 35911821 35911821 Frame_Shift_Del DEL A – p.F923fs no/unknown
SLC27A6 5 128301979 128301979 Missense_Mutation SNP G A p.R50K no/unknown
SLC2A3 12 8083844 8083844 Silent SNP G A p.A169A no/unknown
SLC2A5 1 9097728 9097728 Missense_Mutation SNP A G p.F475L no/unknown
SLC30A10 1 220101480 220101480 Silent SNP C T p.V101V no/unknown
SLC38A4 12 47160537 47160537 Missense_Mutation SNP C T p.A531T no/unknown
SLC38A7 16 58705111 58705111 Frame_Shift_Del DEL C – p.V357fs no/unknown
SLC39A6 18 33692468 33692468 Silent SNP T C p.E640E no/unknown
SLC3A2 11 62652988 62652988 Missense_Mutation SNP C T p.L452F no/unknown
SLC40A1 2 190428434 190428434 Silent SNP A G p.I426I no/unknown
SLC4A11 20 3215424 3215425 Frame_Shift_Ins INS – A p.V85fs no/unknown
SLC4A3 2 220500411 220500411 Frame_Shift_Del DEL G – p.L663fs no/unknown
SLC5A11 16 24886955 24886955 Missense_Mutation SNP C T p.T127M no/unknown
SLC5A2 16 31497156 31497156 Missense_Mutation SNP G A p.R137H no/unknown
SLC8A1 2 40392082 40392082 Missense_Mutation SNP T C p.E694G no/unknown
SLC9C1 3 111901051 111901051 Missense_Mutation SNP G A p.L860F no/unknown
SLC9C1 3 112005610 112005610 Frame_Shift_Del DEL A – p.F10fs no/unknown
SLCO2B1 11 74914411 74914411 Missense_Mutation SNP G A p.A630T no/unknown
SLCO2B1 11 74911338 74911338 Missense_Mutation SNP T C p.C557R no/unknown
SLCO5A1 8 70585423 70585423 Missense_Mutation SNP G A p.A743V no/unknown
SLFN12 17 33749493 33749493 Frame_Shift_Del DEL A – p.F185fs no/unknown
SLFN5 17 33592463 33592463 Missense_Mutation SNP G T p.M744I no/unknown
SLIT2 4 20521030 20521030 Nonsense_Mutation SNP G T p.E362* no/unknown
SLIT3 5 168093548 168093548 Missense_Mutation SNP G A p.R1495W no/unknown
SLIT3 5 168175390 168175390 Silent SNP G A p.C729C no/unknown
SLITRK4 0 142717090 142717090 Missense_Mutation SNP C T p.G612D no/unknown
SMAP1 6 71569944 71569944 Silent SNP C G p.T437T no/unknown
SMARCAL1 2 217279779 217279779 Missense_Mutation SNP G A p.A118T no/unknown
SMC1B 22 45792289 45792289 Missense_Mutation SNP C G p.Q397H no/unknown
SMC6 2 17913035 17913035 Nonsense_Mutation SNP G A p.R152* no/unknown
SMC6 2 17898126 17898126 Frame_Shift_Del DEL T – p.I410fs no/unknown
SMG8 17 57289759 57289759 Missense_Mutation SNP G A p.R606Q no/unknown
SMPD4 2 130925150 130925150 Missense_Mutation SNP G A p.P264S no/unknown
SMPD4 2 130930239 130930239 Missense_Mutation SNP A G p.Y195H no/unknown
SNRK 3 43345238 43345238 Silent SNP C A p.S181S no/unknown
SNUPN 15 75913262 75913262 Missense_Mutation SNP C T p.R44H no/unknown
SOGA2 18 8825189 8825189 Missense_Mutation SNP G T p.K1546N no/unknown
SOHLH2 13 36765940 36765940 Silent SNP T C p.L174L no/unknown
SORBS1 10 97115992 97115992 Missense_Mutation SNP A G p.L767P no/unknown
SOWAHB 4 77816889 77816889 Missense_Mutation SNP T C p.K705R no/unknown
SOX10 22 38374013 38374013 Silent SNP G A p.G186G no/unknown
SP1 12 53776506 53776506 Missense_Mutation SNP G A p.A259T no/unknown
SP1 12 53803256 53803256 Missense_Mutation SNP G A p.G652D no/unknown
SPANXN3 0 142596934 142596934 Missense_Mutation SNP T A p.T46S no/unknown
SPATA31D1 9 84605892 84605892 Silent SNP G A p.S169S no/unknown
SPEG 2 220337737 220337737 Missense_Mutation SNP A G p.I1356V no/unknown
SPEG 2 220338607 220338607 Missense_Mutation SNP G A p.V1477I no/unknown
SPG11 15 44861647 44861647 Silent SNP C T p.L2178L no/unknown
SPG11 15 44918663 44918663 Missense_Mutation SNP C T p.A704T no/unknown
SPHKAP 2 228846548 228846548 Missense_Mutation SNP C T p.R1663Q no/unknown
SPRED3 19 38886249 38886249 Missense_Mutation SNP G A p.A233T no/unknown
SPRYD7 13 50495666 50495667 Frame_Shift_Ins INS – T p.N147fs no/unknown
SPTA1 1 158624457 158624457 Frame_Shift_Del DEL G – p.R994fs no/unknown
SPTBN1 2 54894753 54894753 Silent SNP C T p.G2282G no/unknown
SRCAP 16 30750059 30750059 Missense_Mutation SNP A G p.T2900A no/unknown
SRCAP 16 30734489 30734489 Silent SNP C T p.P1366P no/unknown
SRP72 4 57356539 57356539 Missense_Mutation SNP C T p.A454V no/unknown
SRPR 11 126137087 126137087 Frame_Shift_Del DEL T – p.K142fs no/unknown
SRPX2 0 99919847 99919847 Silent SNP C T p.R144R no/unknown
SRRM4 12 119568532 119568532 Missense_Mutation SNP T C p.S222P no/unknown
SRRT 7 100484515 100484515 Missense_Mutation SNP G A p.A583T no/unknown
SSC5D 19 56011423 56011423 Missense_Mutation SNP C T p.T649M no/unknown
SSC5D 19 56029744 56029744 Silent SNP C A p.T1367T no/unknown
SSR3 3 156261018 156261018 Missense_Mutation SNP C T p.A178T no/unknown
SSTR3 22 37608308 37608308 De_novo_Start_OutOfFrame SNP G A no/unknown
ST6GALNAC4 9 130674675 130674675 Silent SNP G A p.L161L no/unknown
STARD8 0 67941987 67941987 Missense_Mutation SNP G A p.C773Y no/unknown
STK10 5 171523435 171523435 Missense_Mutation SNP C T p.A334T no/unknown
STK11IP 2 220462821 220462821 Missense_Mutation SNP G A p.A5T no/unknown
STK3 8 99468073 99468073 Silent SNP A G p.F491F no/unknown
STON2 14 81744634 81744634 Missense_Mutation SNP G A p.R341C no/unknown
STX1B 16 31004722 31004722 Silent SNP G A p.S207S no/unknown
SUN1 7 857111 857111 Silent SNP C A p.P6P no/unknown
SUPT16H 14 21828672 21828672 Nonsense_Mutation SNP G A p.R693* no/unknown
SUSD4 1 223396962 223396962 Missense_Mutation SNP C T p.R358Q no/unknown
SWT1 1 185143557 185143557 Missense_Mutation SNP C T p.S93F no/unknown
SYCN 19 39694754 39694754 Silent SNP G T p.P47P no/unknown
SYNM 15 99671083 99671083 Frame_Shift_Del DEL G – p.G555fs no/unknown
SYT12 11 66816053 66816053 Splice_Site SNP A G no/unknown
SYT9 11 7335062 7335062 Missense_Mutation SNP A G p.R312G no/unknown
SZT2 1 43903537 43903537 Missense_Mutation SNP C T p.H2101Y no/unknown
SZT2 1 43900075 43900076 Frame_Shift_Ins INS – G p.G1885fs no/unknown
TAF1 0 70597654 70597654 Missense_Mutation SNP T C p.C305R no/unknown
TAF1 0 70612803 70612803 Missense_Mutation SNP G A p.A1003T no/unknown
TAF1D 11 93471453 93471453 Frame_Shift_Del DEL T – p.K96fs no/unknown
TANC1 2 160035643 160035643 Frame_Shift_Del DEL G – p.G827fs no/unknown
TAS2R13 12 11061529 11061529 Silent SNP C T p.K123K no/unknown
TBC1D10A 22 30691732 30691732 Frame_Shift_Del DEL C – p.G180fs no/unknown
TBC1D24 16 2546918 2546918 Missense_Mutation SNP G T p.G257W no/unknown
TBC1D2B 15 78305562 78305562 Missense_Mutation SNP G T p.L625I no/unknown
TBX4 17 59557601 59557601 Silent SNP G A p.A314A no/unknown
TBX4 17 59560510 59560510 Missense_Mutation SNP C T p.S424L no/unknown
TCEA2 20 62701709 62701709 Missense_Mutation SNP G A p.R205Q no/unknown
TCERG1 5 145883505 145883506 Frame_Shift_Del DEL GA – p.R889fs no/unknown
TCFL5 20 61488873 61488873 Missense_Mutation SNP G A p.A371V no/unknown
TCHH 1 152082394 152082394 Missense_Mutation SNP T G p.K1100T no/unknown
TCHH 1 152081685 152081688 Frame_Shift_Del DEL TCTG – p.DR1335fs no/unknown
TCIRG1 11 67810964 67810964 Splice_Site SNP G T p.T210T no/unknown
TCTE1 6 44253911 44253911 Silent SNP G A p.S212S no/unknown
TECTA 11 120980146 120980146 Missense_Mutation SNP C T p.T142I no/unknown
TEF 22 41791952 41791952 Silent SNP C T p.Y300Y no/unknown
TEKT3 17 15217509 15217509 Missense_Mutation SNP A G p.L258P no/unknown
TEP1 14 20850814 20850814 Missense_Mutation SNP C T p.D1370N no/unknown
TEX13B 0 107224465 107224465 Missense_Mutation SNP T C p.T262A no/unknown
TFPI 2 188361619 188361620 Frame_Shift_Ins INS – T p.M103fs no/unknown
TGM2 20 36760883 36760883 Silent SNP G A p.C545C no/unknown
THAP5 7 108205526 108205526 Frame_Shift_Del DEL T – p.K99fs no/unknown
THEGL 4 57467192 57467192 Silent SNP T C p.R400R no/unknown
THG1L 5 157159944 157159944 Missense_Mutation SNP C T p.A87V no/unknown
TIAM1 21 32526674 32526674 Missense_Mutation SNP G T p.P1021H no/unknown
TIGIT 3 114014565 114014565 Missense_Mutation SNP C A p.P79T no/unknown
TLR6 4 38830429 38830429 Silent SNP G A p.C222C no/unknown
TMBIM4 12 66531937 66531937 Frame_Shift_Del DEL A – p.Y174fs no/unknown
TMC1 9 75420356 75420356 Missense_Mutation SNP G A p.G542E no/unknown
TMC6 17 76122369 76122369 Missense_Mutation SNP C T p.S87N no/unknown
TMC7 16 19047030 19047030 Missense_Mutation SNP G A p.R297Q no/unknown
TMED9 5 177019352 177019354 In_Frame_Del DEL AGA – p.K48del no/unknown
TMEM106B 7 12254564 12254564 Missense_Mutation SNP G C p.G43A no/unknown
TMEM135 11 86782612 86782612 Missense_Mutation SNP C T p.A106V no/unknown
TMEM206 1 212548597 212548597 Frame_Shift_Del DEL T – p.S277fs no/unknown
TMEM242 6 157739872 157739872 Missense_Mutation SNP G A p.A90V no/unknown
TMEM50A 1 25669565 25669565 Splice_Site SNP G C no/unknown
TMEM52B 12 10337966 10337966 Splice_Site SNP T C p.W46R no/unknown
TMPRSS9 19 2416732 2416732 Missense_Mutation SNP C T p.P614S no/unknown
TMX1 14 51716252 51716252 Silent SNP T C p.L186L no/unknown
TNRC18 7 5428408 5428408 Frame_Shift_Del DEL G – p.P349fs no/unknown
TNS3 7 47336806 47336806 Missense_Mutation SNP C T p.A1184T no/unknown
TNS3 7 47409087 47409087 Missense_Mutation SNP T C p.T386A no/unknown
TPO 2 1459852 1459852 Missense_Mutation SNP G T p.R206L no/unknown
TRAPPC12 2 3464065 3464065 Silent SNP C T p.G545G no/unknown
TREML2 6 41162327 41162327 Frame_Shift_Del DEL C – p.G207fs no/unknown
TRERF1 6 42231112 42231112 Frame_Shift_Del DEL G – p.P610fs no/unknown
TRIM15 6 30131775 30131775 Missense_Mutation SNP G A p.C105Y no/unknown
TRIM17 1 228598804 228598806 In_Frame_Del DEL TCT – p.199_200EE>E no/unknown
TRIM34 11 5664586 5664586 Missense_Mutation SNP C T p.R372C no/unknown
TRIM62 1 33625416 33625416 Missense_Mutation SNP C T p.E212K no/unknown
TRIM62 1 33613158 33613158 Missense_Mutation SNP C T p.V350I no/unknown
TRMT13 1 100606069 100606069 Splice_Site SNP A G p.Q167R no/unknown
TRPV4 12 110246227 110246228 Frame_Shift_Ins INS – G p.I145fs no/unknown
TSHZ1 18 73000256 73000256 Missense_Mutation SNP C T p.T965I no/unknown
TSPAN8 12 71519155 71519155 Missense_Mutation SNP C T p.V225M no/unknown
TTC19 17 15903186 15903186 Silent SNP C T p.S8S no/unknown
TTC32 2 20101527 20101527 Missense_Mutation SNP A G p.L30P no/unknown
TTC40 10 134698690 134698690 Missense_Mutation SNP G A p.R1182C no/unknown
TTC40 10 134754547 134754547 Silent SNP G A p.C108C no/unknown
TTK 6 80751910 80751910 Frame_Shift_Del DEL A – p.G854fs no/unknown
TTLL10 1 1115661 1115661 Silent SNP G A p.S149S no/unknown
TTLL3 3 9862305 9862305 Missense_Mutation SNP C T p.A202V no/unknown
TTLL4 2 219609868 219609868 Silent SNP T C p.N566N no/unknown
TTN 2 179443832 179443832 Missense_Mutation SNP C T p.G21001D no/unknown
TTN 2 179497401 179497401 Silent SNP G T p.T12803T no/unknown
TTN 2 179431945 179431945 Missense_Mutation SNP G C p.S24664C no/unknown
TUBG2 17 40818642 40818642 Nonsense_Mutation SNP C T p.Q394* no/unknown
TUBGCP6 22 50667841 50667841 Missense_Mutation SNP C T p.V428M no/unknown
TUBGCP6 22 50682250 50682250 Silent SNP C T p.S213S no/unknown
TWIST2 2 239757119 239757119 Missense_Mutation SNP C T p.A88V no/unknown
TYW1 7 66582544 66582544 Missense_Mutation SNP G A p.R546H no/unknown
UAP1 1 162549290 162549290 Frame_Shift_Del DEL A – p.L186fs no/unknown
UBBP4 17 21731326 21731328 In_Frame_Del DEL ACT – p.T212del no/unknown
UBE2C 20 44444178 44444178 Splice_Site SNP A G no/unknown
UBE3A 15 25616066 25616066 Missense_Mutation SNP C A p.G422C no/unknown
UBN2 7 138958743 138958743 Silent SNP G A p.Q632Q no/unknown
UBXN2A 2 24222561 24222561 Missense_Mutation SNP T C p.F202L no/unknown
UGGT1 2 128945033 128945033 Missense_Mutation SNP C T p.P1496L no/unknown
UGP2 2 64084968 64084969 Frame_Shift_Ins INS – A p.K61fs no/unknown
UGT2B11 4 70078430 70078430 Missense_Mutation SNP G C p.T244S no/unknown
ULK2 17 19700927 19700928 Frame_Shift_Ins INS – G p.T531fs no/unknown
UNC80 2 210658539 210658539 Silent SNP T C p.S298S no/unknown
UPF3B 0 118974633 118974633 Silent SNP C T p.L274L no/unknown
UQCRC2 16 21968860 21968860 Silent SNP C T p.T80T no/unknown
USH2A 1 216262448 216262448 Missense_Mutation SNP G T p.H1598N no/unknown
USH2A 1 216420286 216420286 Missense_Mutation SNP C T p.C817Y no/unknown
USP3 15 63845970 63845970 Missense_Mutation SNP T C p.V114A no/unknown
USP48 1 22033261 22033261 Silent SNP G A p.Y688Y no/unknown
USP9X 0 41027380 41027380 Nonsense_Mutation SNP C T p.R849* no/unknown
UTP11L 1 38485018 38485018 Frame_Shift_Del DEL A – p.E177fs no/unknown
UVRAG 11 75562957 75562957 Silent SNP T C p.A49A no/unknown
UVRAG 11 75694431 75694431 Splice_Site DEL A – p.K236fs no/unknown
VASN 16 4431378 4431378 Missense_Mutation SNP G A p.R167H no/unknown
VCPIP1 8 67578327 67578327 Silent SNP A G p.N289N no/unknown
VPS13B 8 100832327 100832329 In_Frame_Del DEL ATT – p.I3018del no/unknown
VPS13C 15 62202459 62202460 Frame_Shift_Ins INS – CA p.R2921fs no/unknown
VPS13D 1 12304611 12304612 Frame_Shift_Ins INS – G p.G129fs no/unknown
WAC 10 28897352 28897352 Missense_Mutation SNP T A p.I386K no/unknown
WDR17 4 177093646 177093646 Missense_Mutation SNP A G p.I1114V no/unknown
WDR20 14 102675310 102675310 Missense_Mutation SNP T C p.V268A no/unknown
WDR33 2 128463939 128463939 Silent SNP C T p.P1323P no/unknown
WDR35 2 20135264 20135264 Missense_Mutation SNP T C p.I850V no/unknown
WDR36 5 110434497 110434497 Silent SNP T C p.D179D no/unknown
WDR45B 17 80588842 80588842 Missense_Mutation SNP C T p.A67T no/unknown
WDR5 9 137019598 137019598 Frame_Shift_Del DEL C – p.N214fs no/unknown
WDR55 5 140049102 140049102 Frame_Shift_Del DEL A – p.K341fs no/unknown
WDR60 7 158727196 158727196 Missense_Mutation SNP G C p.V912L no/unknown
WDR62 19 36545881 36545881 Missense_Mutation SNP C T p.A3V no/unknown
WDR66 12 122396207 122396207 Missense_Mutation SNP C A p.A587E no/unknown
WFIKKN2 17 48918156 48918156 Missense_Mutation SNP C A p.P503T no/unknown
WNK3 0 54360092 54360092 Silent SNP T C p.S5S no/unknown
WSCD2 12 108634156 108634156 Missense_Mutation SNP C T p.R394W no/unknown
WTAP 6 160174515 160174515 Missense_Mutation SNP C T p.A159V no/unknown
XCR1 3 46062565 46062566 Frame_Shift_Ins INS – C p.V292fs no/unknown
XCR1 3 46063399 46063400 Frame_Shift_Ins INS – A p.Y14fs no/unknown
XIRP2 2 168074760 168074760 Missense_Mutation SNP C T p.R303C no/unknown
XKR4 8 56270249 56270249 Missense_Mutation SNP C T p.T273I no/unknown
YY2 0 21875131 21875131 Frame_Shift_Del DEL A – p.K177fs no/unknown
ZBTB25 14 64954668 64954668 Missense_Mutation SNP C T p.R94H no/unknown
ZBTB4 17 7369209 7369209 Silent SNP G T p.G304G no/unknown
ZBTB47 3 42700095 42700095 Missense_Mutation SNP C T p.A83V no/unknown
ZBTB48 1 6640796 6640796 Missense_Mutation SNP G A p.V43I no/unknown
ZBTB48 1 6648194 6648194 Missense_Mutation SNP G A p.R485H no/unknown
ZC3H12C 11 110035910 110035910 Silent SNP G A p.K700K no/unknown
ZCCHC11 1 52889645 52889645 Missense_Mutation SNP G A p.R1633C no/unknown
ZCCHC5 0 77913261 77913261 Silent SNP T C p.S219S no/unknown
ZCCHC6 9 88937823 88937823 Frame_Shift_Del DEL A – p.Y948fs no/unknown
ZDHHC16 10 99215430 99215430 Missense_Mutation SNP G A p.A280T no/unknown
ZDHHC3 3 44986660 44986660 Splice_Site SNP C T p.S144N no/unknown
ZFC3H1 12 72038781 72038781 Frame_Shift_Del DEL T – p.K385fs no/unknown
ZFC3H1 12 72057069 72057069 Nonsense_Mutation SNP C A p.E108* no/unknown
ZFP37 9 115805080 115805080 Silent SNP A G p.C606C no/unknown
ZFP90 16 68598153 68598153 Missense_Mutation SNP C T p.A488V no/unknown
ZFP92 0 152686604 152686604 Missense_Mutation SNP G A p.V257M no/unknown
ZFR 5 32404161 32404161 Frame_Shift_Del DEL T – p.K358fs no/unknown
ZG16 16 29791640 29791640 Missense_Mutation SNP C T p.P135L no/unknown
ZIC4 3 147108970 147108970 Missense_Mutation SNP C T p.R251H no/unknown
ZKSCAN5 7 99124015 99124015 Missense_Mutation SNP G A p.R451H no/unknown
ZMIZ2 7 44802964 44802964 Missense_Mutation SNP C A p.F604L no/unknown
ZMPSTE24 1 40751615 40751615 Frame_Shift_Del DEL A – p.K325fs no/unknown
ZMYND8 20 45848972 45848972 Missense_Mutation SNP G T p.L1121I no/unknown
ZNF169 9 97063569 97063569 Missense_Mutation SNP C T p.R577C no/unknown
ZNF213 16 3187566 3187566 Silent SNP A C p.T95T no/unknown
ZNF254 19 24309150 24309150 Silent SNP A G p.G116G no/unknown
ZNF287 17 16455988 16455988 Missense_Mutation SNP T G p.S490R no/unknown
ZNF337 20 25656020 25656020 Missense_Mutation SNP C T p.R635Q no/unknown
ZNF432 19 52537984 52537984 Silent SNP G A p.S316S no/unknown
ZNF454 5 178373426 178373426 Missense_Mutation SNP G A p.A34T no/unknown
ZNF462 9 109773288 109773288 Missense_Mutation SNP A G p.N2500D no/unknown
ZNF469 16 88503786 88503786 Missense_Mutation SNP G C p.G3275A no/unknown
ZNF469 16 88493909 88493909 Frame_Shift_Del DEL C – p.P12fs no/unknown
ZNF500 16 4815819 4815819 Missense_Mutation SNP C T p.R54Q no/unknown
ZNF513 2 27601603 27601603 Missense_Mutation SNP G T p.P177Q no/unknown
ZNF547 19 57888718 57888718 Missense_Mutation SNP A G p.Q125R no/unknown
ZNF606 19 58489716 58489716 Missense_Mutation SNP C T p.A778T no/unknown
ZNF607 19 38189938 38189938 Missense_Mutation SNP T A p.Y365F no/unknown
ZNF609 15 64967247 64967247 Frame_Shift_Del DEL A – p.K735fs no/unknown
ZNF626 19 20808338 20808338 Frame_Shift_Del DEL T – p.K115fs no/unknown
ZNF648 1 182025924 182025924 Missense_Mutation SNP C T p.V408M no/unknown
ZNF687 1 151261023 151261023 Missense_Mutation SNP T C p.M712T no/unknown
ZNF687 1 151261079 151261079 Frame_Shift_Del DEL C – p.P732fs no/unknown
ZNF700 19 12059355 12059355 Silent SNP G A p.K172K no/unknown
ZNF77 19 2934779 2934779 Missense_Mutation SNP C T p.G116S no/unknown
ZNF773 19 58011348 58011348 De_novo_Start_OutOfFrame SNP G A no/unknown
ZNF773 19 58018562 58018562 Frame_Shift_Del DEL T – p.F368fs no/unknown
ZNF780B 19 40540442 40540442 Frame_Shift_Del DEL T – p.H627fs no/unknown
ZNF784 19 56133700 56133700 Missense_Mutation SNP C T p.R130H no/unknown
ZNF786 7 148768721 148768721 Silent SNP G A p.S381S no/unknown
ZNF790 19 37310478 37310478 Silent SNP A G p.C256C no/unknown
ZNF804B 7 88963924 88963924 Missense_Mutation SNP C T p.P543L no/unknown
ZNF805 19 57765774 57765774 Frame_Shift_Del DEL C – p.H396fs no/unknown
ZNF816 19 53453816 53453816 Silent SNP A G p.N404N no/unknown
ZNF91 19 23543909 23543909 Silent SNP G A p.H624H no/unknown
ZP1 11 60637345 60637345 Missense_Mutation SNP C A p.H218Q no/unknown
ZSCAN1 19 58551854 58551854 Missense_Mutation SNP G T p.W136L no/unknown
ZSCAN21 7 99654715 99654715 Missense_Mutation SNP A G p.E29G no/unknown
ZSCAN31 6 28297104 28297104 Silent SNP T C p.Q119Q no/unknown
ZSCAN5A 19 56735131 56735131 Missense_Mutation SNP T C p.S153G no/unknown
ZYX 7 143085995 143085995 Missense_Mutation SNP G A p.V484M no/unknown

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