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. 2021 Jun 5;7(3):386–413.

Supplement Table 6. All Somatic mutation identified in discovery cohort.

Gene Total NR2 R4 NR5 R2
TP53 7 1 (Missense_Mutation#17:7577538 #rs11540652#C>T) 1 (Frame_Shift_Del#17:757 4029#.#CG>C) 1 (Missense_Mutation# 17:7577085#rs 112431538#C>T) 1 (Missense_Mutation#17:7578406# rs28934578#C>T)
KMT2D 4 0 0 2 (Missense_Mutation#12: 49420600#.#A>G; In_ Frame_Del#12:494265 15#.#CTGT>C) 2 (Nonsense_Mutation# 12:49425545#.#G>A; Nonsense_Mutation# 12:49438595#.#G>T)
ADAMTS12 3 0 0 0 0
PKHD1L1 3 1 (Missense_Mutation#8: 110489456#.#T>C) 0 0 0
RB1 3 1 (Nonsense_Mutation#13:48 947596#.#C>T) 1 (Splice_Site#13:49047 529#.#G>C) 0 0
TTN 3 2 (Missense_Mutation#2: 179413188#.#T>A; Missense_Mutation#2: 179616442#.#G>A) 0 0 0
MED16 3 0 0 1 (Missense_Mutation# 19:881678#.#A>G) 0
HYDIN 3 0 0 0 1 (Missense_Mutation# 16:70998736#.#C>T)
GTF2IRD1 3 1 (Missense_Mutation#7: 74005310#.#G>A) 0 0 1 (Missense_Mutation# 7:73954226#.#G>A)
CROCC 3 1 (Missense_Mutation#1: 17274844#.#G>A) 0 0 0
AHNAK2 3 0 0 0 0
ASB10 2 0 0 1 (Missense_Mutation#7:15 0878324#.#G>C) 0
TMC5 2 0 0 0 2 (Missense_Mutation# 16:19468122#.#C>G;
KCTD1 2 0 0 0 Missense_Mutation# 16:19468165#.#C>T)
USH2A 2 0 0 0 0
LAMA1 2 0 0 0 0
IKBIP 2 0 0 1 (Missense_Mutation# 12:99007505#.#C>T) 1 (Missense_Mutation#12:99007458#.#C>T)
ZFHX4 2 0 0 0 1 (Nonsense_Mutation#8:77767954#.#C>T)
ADAMTS16 2 0 0 0 0
TMEM132D 2 0 0 0 0
CAPN15 2 0 0 0 0
GABRA2 2 0 1 (Missense_Mutation#4:4631 2262#.#G>C) 0 0
PLXNB2 2 0 0 0 1 (Missense_Mutation#22:50728769#.#A>G)
CCDC168 2 0 0 0 0
TMTC2 2 0 0 1 (Missense_Mutation#12:83 290170#.#A>G) 0
MAP3K1 2 0 0 1 (Missense_Mutation#5: 56160646#.#G>A) 1 (Missense_Mutation#5:56155587#.#C>G)
PZP 2 0 0 1 (Missense_Mutation#12: 9307408#.#T>C) 0
TSPEAR 2 0 0 0 0
POLD2 2 1 (Missense_Mutation# 7:44154964#.#G>T) 0 0 0
SLC12A6 2 0 0 0 0
RGS3 2 0 0 0 0
SETX 2 0 0 0 1 (Missense_Mutation#9:135203185#.#G>A)
FAM135B 2 0 0 0 0
PDZD2 2 0 0 0 0
UTP6 2 0 0 0 0
KIF16B 2 0 0 1 (Missense_Mutation#20:16 359862#.#C>G) 0
CRISPLD1 2 0 0 0 1 (Missense_Mutation#8:75925219#.#T>C)
KRTAP2-3 2 0 0 0 0
EPN3 2 1 (Frame_Shift_Del#17:48619468#. #GCCGGGCCGCGGCCC>G) 0 0 0
SETD8 2 0 0 0 0
TTBK1 2 1 (Missense_Mutation# 6:43251852#.#C>T) 0 0 1 (Missense_Mutation#6:43220570#.#C>A)
MUC16 2 0 0 0 1 (Missense_Mutation#19:9069457#.#C>T)
EP300 2 1 (Missense_Mutation#22:41565575#.#A>G) 1 (Frame_Shift_Del#22:415 46157#.#TC>T) 0 0
OR2T2 2 1 (Frame_Shift_Del#1:248616704#rs 199823862#CTGCTGCG>C) 0 0 0
FAM181B 2 0 0 1 (Missense_Mutation#11: 82444658#.#G>C) 0
SIPA1L2 2 0 0 0 1 (Missense_Mutation#1:232579352#.#C>G)
ATAD5 2 0 0 0 0
ARID1A 2 1 (Frame_Shift_Ins#1:27023743#.#C>CG) 1 (Nonsense_Mutation#1:27 088697#.#C>G) 0 0
NOTCH1 2 0 0 0 0
ASAP1 2 0 0 1 (Missense_Mutation#8: 131104250#.#A>T) 1 (Missense_Mutation#8:131414177#.#C>T)
PDE4DIP 2 0 0 1 (Missense_Mutation#1:1448 86200#.#C>G) 0
STARD9 2 1 (Missense_Mutation#15:42981472#.#C>T) 0 0 0
ARHGAP35 2 0 0 0 1 (Nonsense_Mutation#19:47423901#.#C>T)
GOLGA8K 2 0 0 0 0
COL6A3 2 0 0 1 (Missense_Mutation#2:238 275617#.#C>A) 0
CCND3 2 0 0 0 1 (Missense_Mutation#6:41905106#.#C>A)
COL6A6 2 0 1 (Missense_Mutation#3: 130311547#.#G>A) 1 (Missense_Mutation#3:1303 00867#.#G>A) 0
TP53 0 0 1 (Missense_Mutation#17: 757708 5#rs112431538#C>T) 0
KMT2D 1 (Missense_Mutation# 12:49439936#.#C>G) 0 0 0
ADAMTS12 0 1 (Missense_Mutation#5: 33881369#.#T>C) 0 1 (Missense_Mutation#5:33577132# rs13362345#C>T)
PKHD1L1 1 (Missense_Mutation# 8:110460413#.#G>T) 1 (Missense_Mutation#8: 110457541#.#G>A) 0 0
RB1 0 0 1 (Frame_Shift_Del#13: 48878126#.#GC>G) 0
TTN 0 1 (Missense_Mutation#2: 179506013#.#G>C) 0 0
MED16 0 0 0 0
HYDIN 0 0 1 (Missense_Mutation#16: 71019216#.#G>T) 0
GTF2IRD1 0 0 0 0
CROCC 0 1 (Missense_Mutation#1: 17263208#.#G>T) 0 0
AHNAK2 0 1 (Missense_Mutation#14: 105420326#.#C>A) 0 1 (Nonsense_Mutation#14:105423815#. #G>A)
ASB10 0 1 (Missense_Mutation#7: 150883650#.#C>T) 0 0
TMC5 0 0 1 (Missense_Mutation#16: 19475128#.#G>C) 0
KCTD1 0 1 (Missense_Mutation#18: 24127513#.#C>T) 0 0
USH2A 0 1 (Missense_Mutation#1: 216166443#rs375278546#C>T) 0 0
LAMA1 1 (Missense_Mutation# 18:6977821#rs146111631#G>A) 0 0 0
IKBIP 0 0 0 0
ZFHX4 0 0 1 (Nonsense_Mutation#8: 77617248#.#G>T) 0
ADAMTS16 1 (Frame_Shift_Ins# 5:5262847#.#C>CAG) 1 (Missense_Mutation#5:51463 20#rs375714169#C>T) 0 0
TMEM132D 0 1 (Missense_Mutation#12: 130184368#.#G>T) 1 (Missense_Mutation#12: 129559454#.#T>C) 0
CAPN15 0 1 (Missense_Mutation#16: 598178#.#G>A) 2 (Missense_Mutation#16: 596969#.#A>G; Missense_Mutation#16:596970#.#G>T) 0
GABRA2 0 0 0 1 (Missense_Mutation#4:46305489#.#T>C)
PLXNB2 0 0 1 (Frame_Shift_Del#22: 50715101#.#AC>A) 0
CCDC168 0 1 (Missense_Mutation#13: 103384106#.#G>C) 1 (Missense_Mutation#13: 103385255#.#G>A) 0
TMTC2 0 0 0 0
MAP3K1 0 0 0 0
PZP 0 1 (Missense_Mutation#12:93552 19#rs142943281#G>A) 0 0
TSPEAR 0 1 (Missense_Mutation #21:45945689#.#C>T) 0 0
POLD2 0 0 0 0
SLC12A6 0 1 (Missense_Mutation#15: 34628716#.#G>C) 1 (Missense_Mutation#15: 34551139#.#T>C) 0
RGS3 0 1 (Missense_Mutation#9: 116222616#.#G>A) 0 0
SETX 1 (Missense_Mutation#9:135156856#.#T>C) 0 0 0
FAM135B 0 1 (Missense_Mutation#8:1391640 65#rs570924723#C>T) 1 (Missense_Mutation#8: 139164311#.#T>A) 0
PDZD2 0 1 (Missense_Mutation#5:320 74252#rs61745924#G>A) 1 (Missense_Mutation#5: 32090663#.#G>A) 0
UTP6 0 1 (Missense_Mutation# 17:30190461#.#A>G) 0 0
KIF16B 0 1 (Missense_Mutation# 20:16387066#.#G>A) 0 0
CRISPLD1 0 0 0 0
KRTAP2-3 0 1(Missense_Mutation#17:3921 6128#rs35027423#G>A) 0 0
EPN3 0 1 (Splice_Site#17:48610349#.#A>G) 0 0
SETD8 0 0 0 1 (Missense_Mutation#12: 123889486#rs61955123#G>C)
TTBK1 0 0 0 0
MUC16 0 0 1 (Missense_Mutation#19 :9088555#.#G>C) 0
EP300 0 0 0 0
OR2T2 0 0 0 0
FAM181B 0 0 0 0
SIPA1L2 1 (Missense_Mutation# 1:232564258#.#C>G) 0 0 0
ATAD5 0 1 (Missense_Mutation#17: 29171019#.#T>G) 0 0
ARID1A 0 0 0 0
NOTCH1 1 (Missense_Mutation# 9:139390743#.#G>A) 1 (Missense_Mutation#9: 139390600#.#C>A) 0 0
ASAP1 0 0 0 0
PDE4DIP 0 0 0 0
STARD9 0 1 (Missense_Mutation#15: 42985917#.#G>C) 0 0
ARHGAP35 0 0 0 0
GOLGA8K 0 0 0 0
COL6A3 0 0 0 0
CCND3 0 0 0 1 (Nonsense_Mutation#6:41903779#.#G>A)
COL6A6 0 0 0 0
Gene NR8 R1 R3 NR6 NR1
TP53 1 (Missense_Mutation# 17:7578190#rs121912666#T>C) 0 0 1 (Missense_Mutation# 17:7578190#rs121912666#T>C) 0
KMT2D 0 0 0 0 1(Missense_Mutation#12:49 441813#.#C>T)
ADAMTS12 0 0 0 0 0
PKHD1L1 0 0 0 1(Missense_Mutation#5:338812 52#rs117518215#G>A) 0
RB1 0 0 0 0 0
TTN 0 0 0 0 0
MED16 2 (Frame_Shift_Del# 19:875274#.#TCAGCC>T; Frame_Shift_Ins# 19:875295#.#T>TTAAAAAA) 1 (Frame_Shift_Ins# 19:875295#.#T>TTAAAAAA) 0 0 0
HYDIN 0 1 (Missense_Mutation# 16:71186679#.#A>C) 0 0 0
GTF2IRD1 0 1 (In_FrameDel#7:73961544#.# CCAACTGCTTCGGGAT>C) 0 0 0
CROCC 0 1 (Missense_Mutation# 1:17256695#.#G>T) 0 0 0
AHNAK2 0 1 (Missense_Mutation# 14:105409138#.#G>C) 0 0 0
ASB10 0 0 0 0 0
TMC5 0 0 0 0 0
KCTD1 0 0 0 0 1(Missense_Mutation#18:2 4127091#.#C>A)
USH2A 0 0 0 0 1(Missense_Mutation#1:21 6465538#.#C>A)
LAMA1 0 1 (Missense_Mutation# 18:7080061#.#T>C) 0 0 0
IKBIP 0 0 0 0 0
ZFHX4 0 0 0 0 0
ADAMTS16 0 0 0 0 0
TMEM132D 0 0 0 0 0
CAPN15 0 0 0 0 0
GABRA2 0 0 0 0 0
PLXNB2 0 0 0 0 0
CCDC168 0 0 0 0 0
TMTC2 0 1 (In_Frame_Del#12:83290305#. #ATTTTTTATGCTACAG CTACACTAATTG>A) 0 0 0
MAP3K1 0 0 0 0 0
PZP 0 0 0 0 0
TSPEAR 0 0 0 0 1(Missense_Mutation#21:4 5945556#.#G>A)
POLD2 0 1 (Missense_Mutation#7: 44155843#.#C>A) 0 0 0
SLC12A6 0 0 0 0 1(Missense_Mutation#9:1162 59672#.#C>T)
RGS3 0 0 0 0 0
SETX 0 0 0 0 0
FAM135B 0 0 0 0 0
PDZD2 0 0 0 0 0
UTP6 0 0 0 1(Missense_Mutation#17:30222 002#rs3760454#T>C) 0
KIF16B 0 0 0 0 0
CRISPLD1 0 0 0 0 1(Missense_Mutation#8: 75929320#.#A>T)
KRTAP2-3 0 0 0 1(Missense_Mutation#17:39216 085#rs113397060#C>T) 0
EPN3 0 0 0 0 0
SETD8 0 0 2 (Missense_Mutation#12: 123879666#rs61955119# A>G;Missense_Mutation#12 :123879668#rs61955120#G>C) 0 0
TTBK1 0 0 0 0 0
MUC16 0 0 0 0 0
EP300 0 0 0 0 0
OR2T2 0 0 1 (Frame_Shift_Del#1:248616704#rs 199823862#CTGCTGCG>C) 0 0
FAM181B 0 1 (Missense_Mutation#11: 82443571#.#G>C) 0 0 1 (Missense_Mutation# 11:82443571#.#G>C)
SIPA1L2 0 0 0 3(Missense_Mutation#17:29161 202#rs9910051#A>T;Missense _Mutation# 17:29167653#rs3764421 #A>C;Missense_Mutation#17:292143 87#rs11657270#T>C) 0
ATAD5 0 0 0 0 0
ARID1A 0 0 0 0 0
NOTCH1 0 0 0 0 0
ASAP1 0 0 0 0 0
PDE4DIP 0 1 (Missense_Mutation#1:14485 6817#rs3844239#T>C) 0 0 1 (Missense_Mutation# 1:144856817#rs3844239#T>C)
STARD9 0 0 0 0 0
ARHGAP35 1 (Missense_Mutation# 19:47425573#.#G>C) 0 0 0 0
GOLGA8K 0 1 (Missense_Mutation#15:3268 8657#rs372059899#T>G) 0 1 (Missense_Mutation#19: 47425573#.#G>C) 1 (Missense_Mutation# 15:32688657#rs372059899#T>G)
COL6A3 0 1 (Missense_Mutation#2: 238287506#.#T>A) 0 0 1 (Missense_Mutation# 2:238287506#.#T>A)
CCND3 0 0 0 0 0
COL6A6 0 0 0 0 0