Table 1.

Copy-number alterations and copy-neutral loss of heterozygosity in PMF patients

Chr	Patients’s ID	Exposure to IR	Region altered	Type of alteration	Size, Mb	Genes within the regions	Pathogenic or potentially pathogenic variants*
1	740	Exp	1p36.32p36.22, 1q32.3q41	cnLOH	12.8	RBP7
	818	Exp	1p36.33p34.3	cnLOH	34.8	RAP1GAP, RBP7
	615	Exp	1q21.1q44	GAIN	103.8	RBBP5, RBM34, TP53BP2
	842	Un	1p34	cnLOH	1	MPL	MPL c.1543T>A p.W515R
	848	Un	1p36.33p33	cnLOH	48.2	CSF3R, MPL, RAP1GAP, RBP7	MPL c.1543T>A p.W515R
	983	Un	1p33p32.3	cnLOH	3
	702	Un	1p36.36p22.1	cnLOH	93.6	CSF3R, JAK1, MPL, RAP1GAP, RBMXL1, RBP7, RPL5	MPL c.664C>T p.P222S
2	638	Un	2p22.2, 2p23.3, 2p25.3, 2q35	LOSS	3.3	DNMT3A, TP53I3
	702	Un	2q22.3q23.3	LOSS	3.9
3	852	Un	3p14.2	LOSS	0.3
4	740	Exp	4q31.23q31.3	cnLOH	4.9	FBXW7
	1131	Un	4p16.3	LOSS	1.8
	926	Un	4q31.3	LOSS	0.364
	724	Un	4q22.3q23	cnLOH	3.5	RAP1GDS1
5	724	Un	5p13.2q11.2	cnLOH	9.7
	638	Un	5p, 5q multiple alterations1	LOSS	134.4	IRF1, RBM22, NPM1, DDX41
	852	Un	5p15.2p14.3	cnLOH	6.1
6	740	Exp	6q21q22.31	cnLOH	15.2
7	740	Exp	7q21.3	cnLOH	4.3
	818	Exp	7q22.3q36.2	LOSS	47.9	BRAF, EZH2, LAMB4, POT1
	846	Exp	7q35q36.2	LOSS	6.8	EZH2	EZH2 c.1976A>G p.D659G
	638	Un	7q11.23, 7q11.23q21.11, 7q21.2q21.3	GAIN	12.9	RBM48
	638	Un	7q21.11q21.2, 7q21.3q36.3	LOSS	71.7	BRAF, CUX1, EZH2, LAMB4, POT1, RBM33
	702	Un	7q21.3q31.31	LOSS	25.1	CUX1, EZH2, LAMB4
	842	Un	7q36.1q36.2	cnLOH	3.3
8	846	Exp	8p23.3q24.3	GAIN	146.4	CSMD1, RAD21-AS1, RBM12B, RUNX1T1, TP53INP1
9	615	Exp	9p24.3p13.3	cnLOH	35.9	FANCG, JAK2	JAK2 c.1849G>T p.V617F
	818	Exp	9q32q33.1	LOSS	5.5
	724	Un	9p24.3p13.1, 9q34.2q34.3	cnLOH	42.4	FANCG, JAK2	JAK2 c.1849G>T p.V617F
	539	Un	9p24.3p23	cnLOH	13.7	JAK2	JAK2 c.1849G>T p.V617F
	702	Un	9q21.11q21.13	cnLOH	6.5
11	740	Exp	11p15.5p15.4	LOSS	1.7
	740	Exp	11q13.2q25	cnLOH	67.7	ATM, CBL,	ATM c.5071A>C p.S1691R, CBL c.1258C>G p.R420G
	1131	Un	11q12.3q13.2, 11q13.3q25	cnLOH	72.1	ATM, CBL, RBM7, TP53AIP1, RBM14, RBM4B	CBL c.1139T>C p.L380P
	1008	Un	11q23.3q24.1	cnLOH	6.4	CBL
12	615	Exp	12p13.33p11.1	LOSS	34.7	AEBP2, GPRC5A, KRAS	AEBP2 c.198_199insG p.G66fs
	638	Un	12q multiple alterations2	LOSS	12.5	SH2B3, NCOR2
	926	Un	12q21.2q21.31	cnLOH	4.1
13	702	Un	13q12.3q14.3	LOSS	19.8	BRCA2, RB1
	638	Un	13q14.13q14.3	LOSS	4.8	RB1
15	740	Exp	15q23q24.2	cnLOH	7.7
	743	Un	15q13.3	GAIN	0.433
	1014	Un	15q24.1q24.2	LOSS	1.4
16	743	Un	16q23.1	LOSS	0.174
17	818	Exp	17p13.3q21.2	LOSS	39.6	PRPF8, RAP1GAP2, SUZ12, TP53	SUZ12 c.211G>A
	638	Un	17p13.1p11.2	cnLOH	9.1
	638	Un	17p13.3p13.1, 17q21.31q21.32, 17q21.33	LOSS	13.3	PRPF8, RAP1GAP2, TP53	TP53 c.527G>A p.C176Y
	638	Un	17q23.2q25.3	GAIN	22.5	RBFOX3, SRSF2
18	702	Un	18q12.2q21.1	cnLOH	12.4	SETBP1
19	538	Exp	19p13.3p12	cnLOH	22.9	CALR, CALR3, ELANE, JAK3, ZSWIM4	CALR c.1154_1155insTTGTC p.K385fs
	740	Exp	19q12q13.12	cnLOH	3.5	CEBPA
20	904	Un	20p13	GAIN	0.226
	842	Un	20p13p12.3	cnLOH	7	RAD21L1, RBCK1
	702	Un	20q11.21q13.13	LOSS	18.8	ASXL1, RBL1, RBM12, RBM39, RBPJL, TP53INP2, TP53RK
	743	Un	20q13.13q13.33	cnLOH	15.7	CBLN4, CTCFL, DIDO1, GNAS, RTEL1, TP53RK
21	724	Un	21q11.2	LOSS	0.335
22	703	Exp	22q12.1q12.3	cnLOH	4.4

PMF: Primary Myelofibrosis; Chr: Chromosome; ID: Identification; IR: Ionizing Radiation; Exp: Exposed to IR PMF patients; Un: Unexposed to IR PMF patients; cnLOH: copy-neutral loss of heterozygosity; GAIN: copy-number gain; LOSS: copy-number loss; Mb: megabase.

^*Pathogenic or potentially pathogenic variants identified by Whole Exome Sequencing.

¹5p15.32p15.31, 5q11.1q11.2, 5q11.2, 5q11.2q12.1, 5q12.1q12.3, 5q12.3, 5q12.3q21.3, 5q21.3q22.1, 5q22.2q23.1, 5q23.1q31.3, 5q31.3, 5q31.3q33.1, 5q33.2q33.3, 5q33.3q34, 5q34, 5q34q35.1, 5q35.1q35.3, 5q35.3, 5p14.2p14.1, 5p14.3

²12q12q13.11, 12q13.11q13.12, 12q13.3q14.1, 12q21.2, 12q22, 12q24.11q24.12, 12q24.23q24.31, 12q24.33