STRIDE-DB

Repeat Length	AFR	AMR	EUR	EAS	SAS	Repeat
15.3	146	34	203	44	126	CCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCGGCCGCCGCCGC
2.3	0	0	0	0	2	CCGCCGC
6.3	0	0	0	0	2	CCGCCGCTGCCGCTGCCGC
8.3	2	2	1	4	6	CCGCCGCTGCCGCTGCCGCCGCCGC
10.3	0	0	0	4	0	CCGCCGCTGCCGCTGCCGCCGCCGCCGCTGC
13.7	0	0	2	0	0	CCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCGGCCGCC
15.7	0	0	0	0	2	CCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCC

Position	Disease/Trait	P-value	SNPs	Location with respect to STR	distance	Study
4:41744499	Age related hearing loss-related regional glucose metabolism (Cochlear nucleus),	5.0E-6	rs73139112	downstream	-3495	Glucose hypometabolism in the Auditory Pathway in Age Related Hearing Loss in the ADNI cohort.
4:41746460	Hirschsprung disease,	6.0E-6	rs6826373	downstream	-1534	Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
4:41747899	Bone mineral density (femoral neck),	1.0E-7	rs17885864	downstream	-95	Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density.
4:41793147	Age related hearing loss-related regional glucose metabolism (Cochlear nucleus),	1.0E-6	rs6851412	upstream	45153	Glucose hypometabolism in the Auditory Pathway in Age Related Hearing Loss in the ADNI cohort.

Flanking region : 5 kb 10 kb 50 kb

Position	HGVS	dbSNP id	Phenotype List	Distance	Clinvar Significance
4:41745882	NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)	rs17885864	not specified\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|not provided\|Hereditary cancer-predisposing syndrome\|Haddad syndrome	-2112	Benign
4:41745920	NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)	rs138545772	Congenital central hypoventilation\|Hereditary cancer-predisposing syndrome\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome\|not provided	-2074	Conflicting interpretations of pathogenicity
4:41745926	NM_003924.4(PHOX2B):c.826G>A (p.Gly276Ser)	rs587778607	not specified\|Haddad syndrome\|not provided	-2068	Uncertain significance
4:41745973	NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)	rs761018157	Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided\|not specified	-2021	Benign/Likely benign
4:41745976	NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del)	rs17879189	Haddad syndrome\|not specified\|Hereditary cancer-predisposing syndrome\|not provided	-2018	Benign/Likely benign
4:41745976	NM_003924.4(PHOX2B):c.738_776del (p.Ala248_Ala260del)	rs757020181	Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided	-2018	Benign/Likely benign
4:41745990	NM_003924.4(PHOX2B):c.762A>C (p.Ala254=)	rs17884724	not specified\|Congenital central hypoventilation\|not provided\|Hereditary cancer-predisposing syndrome\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	-2004	Benign
4:41745991	NM_003924.4(PHOX2B):c.741_761del (p.Ala254_Ala260del)	rs749694204	Haddad syndrome\|not provided\|Hereditary cancer-predisposing syndrome	-2003	Benign/Likely benign
4:41745992	NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)	rs766767855	Congenital central hypoventilation\|Hereditary cancer-predisposing syndrome\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	-2002	Uncertain significance
4:41745993	NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs)	rs1733878065	Congenital central hypoventilation	-2001	Pathogenic
4:41745994	NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)	rs771383153	not specified\|Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided	-2000	Benign/Likely benign
4:41745997	NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)	rs775006915	not specified\|Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided\|Congenital central hypoventilation	-1997	Benign/Likely benign
4:41746002	NM_003924.4(PHOX2B):c.750G>A (p.Ala250=)	rs17882335	Congenital central hypoventilation\|not specified\|Neuroblastoma, susceptibility to, 2\|Hereditary cancer-predisposing syndrome\|Haddad syndrome\|not provided	-1992	Benign/Likely benign
4:41746026	NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)	rs757355779	not specified\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Hereditary cancer-predisposing syndrome\|Haddad syndrome\|not provided	-1968	Benign/Likely benign
4:41746071	NM_003924.4(PHOX2B):c.681G>A (p.Ala227=)	rs878854617	not provided\|Haddad syndrome	-1923	Likely benign
4:41746113	NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)	rs17879258	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Hereditary cancer-predisposing syndrome\|not specified\|Haddad syndrome	-1881	Benign/Likely benign
4:41746123	NM_003924.4(PHOX2B):c.*1701A>G	rs886059409	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-1871	Uncertain significance
4:41746133	NM_003924.4(PHOX2B):c.618dup (p.Ser207fs)	rs587776626	Congenital central hypoventilation	-1861	Pathogenic
4:41746135	NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)	rs587778606	not specified\|not provided\|Haddad syndrome	-1859	Uncertain significance
4:41746161	NM_003924.4(PHOX2B):c.591C>G (p.Gly197=)	rs144414806	not specified\|Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided	-1833	Benign/Likely benign
4:41746162	NM_003924.4(PHOX2B):c.590G>A (p.Gly197Asp)	rs104893856	Neuroblastoma, susceptibility to, 2	-1832	risk factor
4:41746162	NM_003924.4(PHOX2B):c.*1662A>T	rs1063611	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-1832	Benign
4:41746180	NM_003924.4(PHOX2B):c.*1644A>T	rs886059410	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-1814	Uncertain significance
4:41746197	NM_003924.4(PHOX2B):c.*1627G>A	rs886059411	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-1797	Uncertain significance
4:41746200	NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)	rs17885216	not specified\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|not provided\|Hereditary cancer-predisposing syndrome\|Haddad syndrome	-1794	Benign
4:41746242	NM_003924.4(PHOX2B):c.*1582T>C	rs921963841	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-1752	Uncertain significance
4:41746302	NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)	rs17881486	not specified\|Hereditary cancer-predisposing syndrome\|not provided\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	-1692	Benign/Likely benign
4:41746338	NM_003924.4(PHOX2B):c.*1486T>C	rs530550940	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-1656	Uncertain significance
4:41746423	NM_003924.4(PHOX2B):c.*1401C>G	rs781647693	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-1571	Uncertain significance
4:41746437	NM_003924.4(PHOX2B):c.*1387C>T	rs11723860	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-1557	Benign
4:41746443	NM_003924.4(PHOX2B):c.*1381C>T	rs59260453	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-1551	Benign
4:41746460	NM_003924.4(PHOX2B):c.*1364G>A	rs6826373	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-1534	Benign
4:41746477	NM_003924.4(PHOX2B):c.*1347A>G	rs62412180	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-1517	Benign
4:41746479	NM_003924.4(PHOX2B):c.*1345G>T	rs1560464984	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-1515	Uncertain significance
4:41746490	NM_003924.4(PHOX2B):c.*1334G>C	rs1733823205	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-1504	Uncertain significance
4:41746514	NM_003924.4(PHOX2B):c.*1310G>T	rs180795407	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-1480	Uncertain significance
4:41746555	NM_003924.4(PHOX2B):c.*1269A>G	rs886059412	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-1439	Uncertain significance
4:41746668	NM_003924.4(PHOX2B):c.*1156C>A	rs560413438	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-1326	Benign
4:41746698	NM_003924.4(PHOX2B):c.*1126C>G	rs118046131	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-1296	Benign
4:41746986	NM_003924.4(PHOX2B):c.*838A>G	rs367652707	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-1008	Benign
4:41747035	NM_003924.4(PHOX2B):c.*789G>A	rs1733838098	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-959	Uncertain significance
4:41747087	NM_003924.4(PHOX2B):c.*737C>T	rs745503233	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-907	Uncertain significance
4:41747131	NM_003924.4(PHOX2B):c.*693C>T	rs535962589	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-863	Uncertain significance
4:41747144	NM_003924.4(PHOX2B):c.*680C>G	rs1560465172	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-850	Uncertain significance
4:41747149	NM_003924.4(PHOX2B):c.*674dup	rs397840867	Neuroblastoma\|Congenital central hypoventilation	-845	Benign
4:41747186	NM_003924.4(PHOX2B):c.*638G>C	rs544491872	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-808	Uncertain significance
4:41747224	NM_003924.4(PHOX2B):c.*600T>G	rs73139116	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-770	Benign
4:41747274	NM_003924.4(PHOX2B):c.*550G>A	rs577950819	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-720	Benign
4:41747274	NM_003924.4(PHOX2B):c.*549dup	rs201654270	Neuroblastoma\|Congenital central hypoventilation	-720	Likely benign
4:41747357	NM_003924.4(PHOX2B):c.421C>G (p.Arg141Gly)	rs28939716	Hirschsprung disease-ganglioneuroblastoma syndrome	-637	Pathogenic
4:41747479	NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu)	rs104893855	Neuroblastoma, susceptibility to, 2\|Haddad syndrome	-515	Uncertain significance
4:41747490	NM_003924.4(PHOX2B):c.288C>G (p.Arg96=)	rs201892150	not specified\|Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided	-504	Benign/Likely benign
4:41747523	NM_003924.4(PHOX2B):c.*301C>G	rs1303150051	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-471	Uncertain significance
4:41747546	NM_003924.4(PHOX2B):c.*278T>A	rs73810341	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-448	Benign
4:41747610	NM_003924.4(PHOX2B):c.*214A>G	rs994949118	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-384	Uncertain significance
4:41747630	NM_003924.4(PHOX2B):c.*194C>T	rs186778106	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-364	Benign
4:41747663	NM_003924.4(PHOX2B):c.*161G>A	rs114290493	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-331	Benign
4:41747663	NM_003924.4(PHOX2B):c.*161G>C	rs114290493	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-331	Uncertain significance
4:41747744	NM_003924.4(PHOX2B):c.*80G>A	rs75913938	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|not provided	-250	Benign/Likely benign
4:41747764	NM_003924.4(PHOX2B):c.*60G>A	rs558416040	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-230	Conflicting interpretations of pathogenicity
4:41747766	NM_003924.4(PHOX2B):c.*58G>C	rs886059413	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-228	Uncertain significance
4:41747791	NM_003924.4(PHOX2B):c.*12GCG[8]	rs763380864	Neuroblastoma\|Congenital central hypoventilation	-203	Uncertain significance
4:41747792	NM_003924.4(PHOX2B):c.*12GCG[4]	rs763380864	Congenital central hypoventilation\|Neuroblastoma	-202	Likely benign
4:41747805	NM_003924.4(PHOX2B):c.*19C>A	rs770841700	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	-189	Conflicting interpretations of pathogenicity
4:41747806	NM_003924.4(PHOX2B):c.*18G>A	rs776498322	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	-188	Conflicting interpretations of pathogenicity
4:41747824	NM_003924.4(PHOX2B):c.945A>G (p.Ter315Trp)	rs1553897738	Inborn genetic diseases	-170	Likely pathogenic
4:41747824	NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys)	rs1553897738	Neuroblastoma, susceptibility to, 2	-170	Pathogenic
4:41747824	NC_000004.11:g.(?_41747824)_(41750627_?)dup	NA	Haddad syndrome	-170	Uncertain significance
4:41747827	NM_003924.4(PHOX2B):c.942C>T (p.Phe314=)	rs751212535	Haddad syndrome\|Hereditary cancer-predisposing syndrome	-167	Likely benign
4:41747829	NM_003924.4(PHOX2B):c.940T>C (p.Phe314Leu)	rs1733865401	Haddad syndrome	-165	Uncertain significance
4:41747832	NM_003924.4(PHOX2B):c.937A>G (p.Met313Val)	rs1560465426	Haddad syndrome	-162	Uncertain significance
4:41747835	NM_003924.4(PHOX2B):c.934A>G (p.Ser312Gly)	NA	Haddad syndrome	-159	Uncertain significance
4:41747836	NM_003924.4(PHOX2B):c.933C>T (p.Ser311_Ser312=)	NA	Hereditary cancer-predisposing syndrome	-158	Uncertain significance
4:41747837	NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)	rs762234006	Haddad syndrome	-157	Uncertain significance
4:41747840	NM_003924.4(PHOX2B):c.929A>G (p.Lys310Arg)	rs767873201	Haddad syndrome\|Hereditary cancer-predisposing syndrome	-154	Uncertain significance
4:41747842	NM_003924.4(PHOX2B):c.927G>A (p.Val309=)	NA	Haddad syndrome	-152	Likely benign
4:41747844	NM_003924.4(PHOX2B):c.925G>C (p.Val309Leu)	rs756644504	Haddad syndrome	-150	Uncertain significance
4:41747844	NM_003924.4(PHOX2B):c.925G>A (p.Val309Met)	rs756644504	Haddad syndrome	-150	Uncertain significance
4:41747845	NM_003924.4(PHOX2B):c.924A>G (p.Leu308=)	rs1335997009	not provided\|Hereditary cancer-predisposing syndrome\|Haddad syndrome	-149	Likely benign
4:41747848	NM_003924.4(PHOX2B):c.921C>G (p.Ala307=)	rs1045005323	Haddad syndrome\|Hereditary cancer-predisposing syndrome	-146	Likely benign
4:41747849	NM_003924.4(PHOX2B):c.920C>T (p.Ala307Val)	rs1420729662	Haddad syndrome	-145	Uncertain significance
4:41747850	NM_003924.4(PHOX2B):c.919G>T (p.Ala307Ser)	rs780578509	Haddad syndrome	-144	Uncertain significance
4:41747850	NM_003924.4(PHOX2B):c.919G>A (p.Ala307Thr)	NA	Haddad syndrome	-144	Uncertain significance
4:41747851	NM_003924.4(PHOX2B):c.918C>A (p.Ala306=)	rs753912150	Hereditary cancer-predisposing syndrome\|Haddad syndrome	-143	Likely benign
4:41747852	NM_003924.4(PHOX2B):c.917C>A (p.Ala306Asp)	rs1352110516	Haddad syndrome	-142	Uncertain significance
4:41747858	NM_003924.4(PHOX2B):c.911C>A (p.Ala304Asp)	NA	Haddad syndrome	-136	Uncertain significance
4:41747862	NM_003924.4(PHOX2B):c.907G>C (p.Gly303Arg)	rs1324644005	Hereditary cancer-predisposing syndrome\|Haddad syndrome	-132	Uncertain significance
4:41747863	NM_003924.4(PHOX2B):c.906C>A (p.Asn302Lys)	rs1368103166	Haddad syndrome	-131	Uncertain significance
4:41747863	NM_003924.4(PHOX2B):c.906C>G (p.Asn302Lys)	NA	Haddad syndrome	-131	Uncertain significance
4:41747864	NM_003924.4(PHOX2B):c.905A>G (p.Asn302Ser)	rs779068107	Haddad syndrome	-130	Uncertain significance
4:41747864	NM_003924.4(PHOX2B):c.905A>C (p.Asn302Thr)	rs779068107	Hereditary cancer-predisposing syndrome\|Haddad syndrome	-130	Uncertain significance
4:41747865	NM_003924.4(PHOX2B):c.904A>T (p.Asn302Tyr)	rs1577558708	Haddad syndrome	-129	Uncertain significance
4:41747871	NM_003924.4(PHOX2B):c.898A>T (p.Arg300Ter)	NA	Haddad syndrome	-123	Uncertain significance
4:41747878	NM_003924.4(PHOX2B):c.891G>C (p.Ser297=)	NA	Haddad syndrome	-116	Likely benign
4:41747879	NM_003924.4(PHOX2B):c.890C>T (p.Ser297Leu)	NA	Haddad syndrome	-115	Uncertain significance
4:41747884	NM_003924.4(PHOX2B):c.885A>G (p.Leu295=)	rs748382088	Haddad syndrome\|Hereditary cancer-predisposing syndrome	-110	Likely benign
4:41747889	NM_003924.4(PHOX2B):c.880G>C (p.Val294Leu)	NA	Haddad syndrome	-105	Uncertain significance
4:41747890	NM_003924.4(PHOX2B):c.879C>A (p.Ser293Arg)	rs1577558732	Hereditary cancer-predisposing syndrome	-104	Uncertain significance
4:41747894	NM_003924.4(PHOX2B):c.875C>T (p.Ala292Val)	NA	Haddad syndrome	-100	Uncertain significance
4:41747899	NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)	rs17885864	not specified\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|not provided\|Hereditary cancer-predisposing syndrome\|Haddad syndrome	-95	Benign
4:41747899	NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)	rs17885864	not specified\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|not provided\|Hereditary cancer-predisposing syndrome\|Haddad syndrome	-95	Benign
4:41747899	NM_003924.4(PHOX2B):c.870C>T (p.Pro290=)	NA	Haddad syndrome	-95	Likely benign
4:41747901	NM_003924.4(PHOX2B):c.868C>G (p.Pro290Ala)	NA	Haddad syndrome	-93	Uncertain significance
4:41747902	NM_003924.4(PHOX2B):c.866dup (p.Pro290fs)	rs1733868277	not provided	-92	Pathogenic
4:41747903	NM_003924.4(PHOX2B):c.866G>A (p.Gly289Asp)	NA	Haddad syndrome	-91	Uncertain significance
4:41747904	NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser)	rs769663483	Haddad syndrome\|Hereditary cancer-predisposing syndrome	-90	Uncertain significance
4:41747911	NM_003924.4(PHOX2B):c.858G>A (p.Ser286=)	rs1475326335	Hereditary cancer-predisposing syndrome	-83	Likely benign
4:41747915	NM_003924.4(PHOX2B):c.854A>C (p.Asp285Ala)	rs1733868910	Haddad syndrome	-79	Uncertain significance
4:41747918	NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg)	rs1462459716	Haddad syndrome\|Neuroblastoma, susceptibility to, 2;Congenital central hypoventilation	-76	Uncertain significance
4:41747919	NM_003924.4(PHOX2B):c.850C>G (p.Pro284Ala)	NA	Haddad syndrome	-75	Uncertain significance
4:41747919	NM_003924.4(PHOX2B):c.850C>A (p.Pro284Thr)	NA	Haddad syndrome	-75	Uncertain significance
4:41747920	NM_003924.4(PHOX2B):c.849C>G (p.Ile283Met)	rs1733869488	Haddad syndrome\|Hereditary cancer-predisposing syndrome	-74	Uncertain significance
4:41747920	NM_003924.4(PHOX2B):c.849C>A (p.Ile283=)	NA	Haddad syndrome	-74	Likely benign
4:41747921	NM_003924.4(PHOX2B):c.848T>A (p.Ile283Asn)	NA	Haddad syndrome	-73	Uncertain significance
4:41747922	NM_003924.4(PHOX2B):c.811_847del (p.Gln271fs)	rs1733869585	Haddad syndrome	-72	Uncertain significance
4:41747924	NM_003924.4(PHOX2B):c.845C>G (p.Ser282Cys)	rs1577558774	Hereditary cancer-predisposing syndrome\|Haddad syndrome	-70	Uncertain significance
4:41747926	NM_003924.4(PHOX2B):c.843C>T (p.Thr281=)	NA	Haddad syndrome	-68	Likely benign
4:41747927	NM_003924.4(PHOX2B):c.842C>A (p.Thr281Asn)	rs1577558782	Hereditary cancer-predisposing syndrome	-67	Uncertain significance
4:41747928	NM_003924.4(PHOX2B):c.841A>C (p.Thr281Pro)	rs1733869871	Haddad syndrome	-66	Uncertain significance
4:41747930	NM_003924.4(PHOX2B):c.833_838dup (p.Pro279_Ile280insSerPro)	NA	Haddad syndrome	-64	Uncertain significance
4:41747931	NM_003924.4(PHOX2B):c.826GGCCCC[3] (p.276GP[3])	rs752879767	Haddad syndrome\|Hereditary cancer-predisposing syndrome	-63	Uncertain significance
4:41747931	NM_003924.4(PHOX2B):c.838A>G (p.Ile280Val)	rs1560465480	Haddad syndrome	-63	Uncertain significance
4:41747933	NM_003924.4(PHOX2B):c.836C>T (p.Pro279Leu)	rs1733870310	Haddad syndrome	-61	Uncertain significance
4:41747934	NM_003924.4(PHOX2B):c.835C>A (p.Pro279Thr)	rs1733870407	Haddad syndrome	-60	Uncertain significance
4:41747935	NM_003924.4(PHOX2B):c.834C>T (p.Gly278=)	NA	Haddad syndrome	-59	Likely benign
4:41747936	NM_003924.4(PHOX2B):c.833G>T (p.Gly278Val)	rs1577558795	Haddad syndrome	-58	Uncertain significance
4:41747937	NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)	rs138545772	Congenital central hypoventilation\|Hereditary cancer-predisposing syndrome\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome\|not provided	-57	Conflicting interpretations of pathogenicity
4:41747937	NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)	rs138545772	Congenital central hypoventilation\|Hereditary cancer-predisposing syndrome\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome\|not provided	-57	Conflicting interpretations of pathogenicity
4:41747938	NM_003924.4(PHOX2B):c.831C>G (p.Pro277=)	rs773606043	Haddad syndrome	-56	Likely benign
4:41747939	NM_003924.4(PHOX2B):c.830C>T (p.Pro277Leu)	rs1733871030	Haddad syndrome	-55	Uncertain significance
4:41747940	NM_003924.4(PHOX2B):c.829C>A (p.Pro277Thr)	NA	Congenital central hypoventilation	-54	Uncertain significance
4:41747943	NM_003924.4(PHOX2B):c.826G>A (p.Gly276Ser)	rs587778607	not specified\|Haddad syndrome\|not provided	-51	Uncertain significance
4:41747943	NM_003924.4(PHOX2B):c.826G>A (p.Gly276Ser)	rs587778607	not specified\|Haddad syndrome\|not provided	-51	Uncertain significance
4:41747944	NM_003924.4(PHOX2B):c.825C>G (p.Pro275=)	NA	Haddad syndrome	-50	Likely benign
4:41747949	NM_003924.4(PHOX2B):c.820G>A (p.Ala274Thr)	NA	Haddad syndrome	-45	Uncertain significance
4:41747954	NM_003924.4(PHOX2B):c.815G>T (p.Gly272Val)	rs1355806826	Haddad syndrome	-40	Uncertain significance
4:41747954	NM_003924.4(PHOX2B):c.815G>A (p.Gly272Asp)	NA	Haddad syndrome	-40	Uncertain significance
4:41747955	NM_003924.4(PHOX2B):c.814G>A (p.Gly272Ser)	rs1232625512	Haddad syndrome	-39	Uncertain significance
4:41747957	NM_003924.4(PHOX2B):c.812A>C (p.Gln271Pro)	rs1334079108	Haddad syndrome	-37	Uncertain significance
4:41747958	NM_003924.4(PHOX2B):c.811C>T (p.Gln271Ter)	rs1733871948	Haddad syndrome	-36	Uncertain significance
4:41747959	NM_003924.4(PHOX2B):c.810A>T (p.Gly270=)	NA	Haddad syndrome	-35	Likely benign
4:41747960	NM_003924.4(PHOX2B):c.809G>T (p.Gly270Val)	rs1577558821	Haddad syndrome	-34	Uncertain significance
4:41747960	NM_003924.4(PHOX2B):c.809G>A (p.Gly270Glu)	rs1577558821	Haddad syndrome	-34	Uncertain significance
4:41747961	NM_003924.4(PHOX2B):c.808G>A (p.Gly270Arg)	rs1553897753	Haddad syndrome	-33	Uncertain significance
4:41747961	NM_003924.4(PHOX2B):c.808G>C (p.Gly270Arg)	rs1553897753	Haddad syndrome	-33	Uncertain significance
4:41747962	NM_003924.4(PHOX2B):c.807T>C (p.Pro269=)	rs755371263	Haddad syndrome\|Hereditary cancer-predisposing syndrome	-32	Likely benign
4:41747963	NM_003924.4(PHOX2B):c.806C>T (p.Pro269Leu)	rs1350901284	Haddad syndrome\|Hereditary cancer-predisposing syndrome	-31	Uncertain significance
4:41747966	NM_003924.4(PHOX2B):c.803G>T (p.Gly268Val)	rs765369462	Haddad syndrome	-28	Uncertain significance
4:41747966	NM_003924.4(PHOX2B):c.803G>A (p.Gly268Asp)	rs765369462	Haddad syndrome	-28	Uncertain significance
4:41747967	NM_003924.4(PHOX2B):c.802G>A (p.Gly268Ser)	rs758728895	Haddad syndrome	-27	Uncertain significance
4:41747968	NM_003924.4(PHOX2B):c.801G>A (p.Gly267=)	NA	Haddad syndrome	-26	Likely benign
4:41747971	NM_003924.4(PHOX2B):c.798T>G (p.Ala266=)	NA	Haddad syndrome	-23	Likely benign
4:41747972	NM_003924.4(PHOX2B):c.797C>T (p.Ala266Val)	rs745709595	Haddad syndrome	-22	Uncertain significance
4:41747973	NM_003924.4(PHOX2B):c.796G>T (p.Ala266Ser)	rs1260084723	Haddad syndrome\|Hereditary cancer-predisposing syndrome	-21	Uncertain significance
4:41747974	NM_003924.4(PHOX2B):c.795G>T (p.Ala265=)	rs1440737466	not provided\|Haddad syndrome\|Hereditary cancer-predisposing syndrome	-20	Likely benign
4:41747974	NM_003924.4(PHOX2B):c.795G>C (p.Ala265=)	NA	Haddad syndrome	-20	Likely benign
4:41747974	NM_003924.4(PHOX2B):c.795G>A (p.Ala265=)	NA	Haddad syndrome	-20	Likely benign
4:41747975	NM_003924.4(PHOX2B):c.794C>T (p.Ala265Val)	rs1733873222	Haddad syndrome	-19	Uncertain significance
4:41747976	NM_003924.4(PHOX2B):c.793G>A (p.Ala265Thr)	rs1010753155	Haddad syndrome	-18	Uncertain significance
4:41747977	NM_003924.4(PHOX2B):c.792T>C (p.Ala264=)	rs755927299	not provided	-17	Likely benign
4:41747978	NM_003924.4(PHOX2B):c.791C>G (p.Ala264Gly)	rs779924196	Hereditary cancer-predisposing syndrome\|Haddad syndrome	-16	Uncertain significance
4:41747979	NM_003924.4(PHOX2B):c.790G>T (p.Ala264Ser)	rs1320695099	Haddad syndrome	-15	Uncertain significance
4:41747979	NM_003924.4(PHOX2B):c.790G>A (p.Ala264Thr)	rs1320695099	Haddad syndrome	-15	Uncertain significance
4:41747980	NM_003924.4(PHOX2B):c.789G>A (p.Leu263=)	NA	Haddad syndrome	-14	Likely benign
4:41747981	NM_003924.4(PHOX2B):c.788T>C (p.Leu263Pro)	rs1733873637	Haddad syndrome	-13	Uncertain significance
4:41747982	NM_003924.4(PHOX2B):c.787C>T (p.Leu263=)	rs749254001	Hereditary cancer-predisposing syndrome\|Haddad syndrome	-12	Likely benign
4:41747984	NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val)	rs768420488	Congenital central hypoventilation\|Hereditary cancer-predisposing syndrome\|Haddad syndrome	-10	Uncertain significance
4:41747984	NM_003924.4(PHOX2B):c.785G>A (p.Gly262Asp)	rs768420488	Haddad syndrome	-10	Uncertain significance
4:41747987	NM_003924.4(PHOX2B):c.782G>A (p.Gly261Glu)	rs1733874037	Haddad syndrome	-7	Uncertain significance
4:41747989	NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)	rs761018157	not provided\|Congenital central hypoventilation	-5	Pathogenic
4:41747989	NM_003924.4(PHOX2B):c.779_780insGGCGGCGGCGGCAGC (p.Ala256_Ala260dup)	rs1733874227	not provided	-5	Pathogenic
4:41747989	NM_003924.4(PHOX2B):c.750_779dup (p.Ala251_Ala260dup)	NA	not provided	-5	Pathogenic
4:41747990	NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)	rs761018157	Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided\|not specified	-4	Benign/Likely benign
4:41747990	NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)	rs761018157	Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided\|not specified	-4	Benign/Likely benign
4:41747990	NM_003924.4(PHOX2B):c.779C>T (p.Ala260Val)	rs1060501125	Haddad syndrome	-4	Uncertain significance
4:41747990	NM_003924.4(PHOX2B):c.771_779del (p.Ala258_Ala260del)	rs764220516	Haddad syndrome	-4	Likely benign
4:41747991	NM_003924.4(PHOX2B):c.778G>A (p.Ala260Thr)	rs1383528417	Haddad syndrome	-3	Uncertain significance
4:41747992	NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup)	rs17879189	not provided	-2	Pathogenic
4:41747992	NM_003924.4(PHOX2B):c.771GGC[3] (p.Ala260dup)	rs17886470	Congenital central hypoventilation	-2	Uncertain significance
4:41747992	NM_003924.4(PHOX2B):c.738_776dup (p.Ala248_Ala260dup)	rs757020181	Congenital central hypoventilation	-2	Pathogenic
4:41747993	NM_003924.4(PHOX2B):c.738_776del (p.Ala248_Ala260del)	rs757020181	Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided	-1	Benign/Likely benign
4:41747993	NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del)	rs17879189	Haddad syndrome\|not specified\|Hereditary cancer-predisposing syndrome\|not provided	-1	Benign/Likely benign
4:41747993	NM_003924.4(PHOX2B):c.738_776del (p.Ala248_Ala260del)	rs757020181	Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided	-1	Benign/Likely benign
4:41747993	NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del)	rs17879189	Haddad syndrome\|not specified\|Hereditary cancer-predisposing syndrome\|not provided	-1	Benign/Likely benign
4:41747995	NM_003924.4(PHOX2B):c.762AGCGGC[3] (p.Ala259_Ala260dup)	rs1157597283	Congenital central hypoventilation	1	Uncertain significance
4:41747995	NM_003924.4(PHOX2B):c.774G>A (p.Ala258=)	NA	Haddad syndrome	1	Likely benign
4:41747996	NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)	rs747626591	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Hereditary cancer-predisposing syndrome\|Haddad syndrome	2	Conflicting interpretations of pathogenicity
4:41747996	NM_003924.4(PHOX2B):c.747_773del (p.Ala252_Ala260del)	rs778840671	Haddad syndrome	2	Likely benign
4:41747998	NM_003924.4(PHOX2B):c.771G>C (p.Ala257=)	NA	Haddad syndrome	4	Likely benign
4:41747999	NM_003924.4(PHOX2B):c.770C>T (p.Ala257Val)	NA	Haddad syndrome	5	Uncertain significance
4:41748001	NM_003924.4(PHOX2B):c.768A>G (p.Ala256=)	rs574093401	Haddad syndrome	7	Likely benign
4:41748001	NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup)	rs779557320	Congenital central hypoventilation\|Inborn genetic diseases	7	Pathogenic
4:41748001	NM_003924.4(PHOX2B):c.767_768insGGCGGCGTCAGCGGC (p.255_258A[4]SAAAA[1])	NA	Haddad syndrome	7	Uncertain significance
4:41748002	NM_003924.4(PHOX2B):c.735_767del (p.Ala250_Ala260del)	rs757850760	Haddad syndrome	8	Likely benign
4:41748002	NM_003924.4(PHOX2B):c.753_767del (p.Ala256_Ala260del)	rs779557320	not provided\|Haddad syndrome\|Hereditary cancer-predisposing syndrome	8	Likely benign
4:41748002	NM_003924.4(PHOX2B):c.741_767del (p.Ala252_Ala260del)	rs1577558924	Haddad syndrome	8	Likely benign
4:41748003	NM_003924.4(PHOX2B):c.766G>A (p.Ala256Thr)	NA	Haddad syndrome	9	Uncertain significance
4:41748007	NM_003924.4(PHOX2B):c.762A>C (p.Ala254=)	rs17884724	not specified\|Congenital central hypoventilation\|not provided\|Hereditary cancer-predisposing syndrome\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	13	Benign
4:41748007	NM_003924.4(PHOX2B):c.762A>C (p.Ala254=)	rs17884724	not specified\|Congenital central hypoventilation\|not provided\|Hereditary cancer-predisposing syndrome\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	13	Benign
4:41748007	NM_003924.4(PHOX2B):c.762A>G (p.Ala254=)	rs17884724	Haddad syndrome	13	Likely benign
4:41748007	NM_003924.4(PHOX2B):c.750GGC[5] (p.Ala260dup)	rs955563168	Haddad syndrome	13	Uncertain significance
4:41748008	NM_003924.4(PHOX2B):c.741_761del (p.Ala254_Ala260del)	rs749694204	Haddad syndrome\|not provided\|Hereditary cancer-predisposing syndrome	14	Benign/Likely benign
4:41748008	NM_003924.4(PHOX2B):c.741_761del (p.Ala254_Ala260del)	rs749694204	Haddad syndrome\|not provided\|Hereditary cancer-predisposing syndrome	14	Benign/Likely benign
4:41748008	NM_003924.4(PHOX2B):c.735_761del (p.Ala252_Ala260del)	rs749694204	Haddad syndrome	14	Likely benign
4:41748008	NM_003924.4(PHOX2B):c.750GGC[3] (p.Ala260del)	rs955563168	not provided\|Haddad syndrome\|Hereditary cancer-predisposing syndrome	14	Likely benign
4:41748009	NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)	rs766767855	Congenital central hypoventilation\|Hereditary cancer-predisposing syndrome\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	15	Uncertain significance
4:41748009	NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)	rs766767855	Congenital central hypoventilation\|Hereditary cancer-predisposing syndrome\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	15	Uncertain significance
4:41748010	NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs)	rs1733878065	Congenital central hypoventilation	16	Pathogenic
4:41748010	NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs)	rs1733878065	Congenital central hypoventilation	16	Pathogenic
4:41748010	NM_003924.4(PHOX2B):c.759G>A (p.Ala253=)	rs1018522821	Haddad syndrome\|Hereditary cancer-predisposing syndrome	16	Likely benign
4:41748010	NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup)	rs771383153	not provided	16	Pathogenic/Likely pathogenic
4:41748011	NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)	rs771383153	not specified\|Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided	17	Benign/Likely benign
4:41748011	NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)	rs771383153	not specified\|Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided	17	Benign/Likely benign
4:41748013	NM_003924.4(PHOX2B):c.756G>A (p.Ala252=)	rs1173050990	Haddad syndrome	19	Likely benign
4:41748013	NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup)	rs775006915	Congenital central hypoventilation	19	Pathogenic
4:41748014	NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)	rs775006915	not specified\|Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided\|Congenital central hypoventilation	20	Benign/Likely benign
4:41748014	NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)	rs775006915	not specified\|Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided\|Congenital central hypoventilation	20	Benign/Likely benign
4:41748017	NM_003924.4(PHOX2B):c.752C>T (p.Ala251Val)	NA	Haddad syndrome	23	Uncertain significance
4:41748019	NM_003924.4(PHOX2B):c.750G>A (p.Ala250=)	rs17882335	Congenital central hypoventilation\|not specified\|Neuroblastoma, susceptibility to, 2\|Hereditary cancer-predisposing syndrome\|Haddad syndrome\|not provided	25	Benign/Likely benign
4:41748019	NM_003924.4(PHOX2B):c.750G>A (p.Ala250=)	rs17882335	Congenital central hypoventilation\|not specified\|Neuroblastoma, susceptibility to, 2\|Hereditary cancer-predisposing syndrome\|Haddad syndrome\|not provided	25	Benign/Likely benign
4:41748019	NM_003924.4(PHOX2B):c.729_749dup (p.Ala254_Ala260dup)	rs772448418	Congenital central hypoventilation	25	Pathogenic
4:41748019	NM_003924.4(PHOX2B):c.750G>T (p.Ala250=)	NA	Haddad syndrome	25	Likely benign
4:41748020	NM_003924.4(PHOX2B):c.749C>G (p.Ala250Gly)	rs765803171	Haddad syndrome	26	Uncertain significance
4:41748020	NM_003924.4(PHOX2B):c.729_749del (p.Ala254_Ala260del)	rs772448418	Congenital central hypoventilation	26	Uncertain significance
4:41748020	NM_003924.4(PHOX2B):c.749C>A (p.Ala250Glu)	NA	Haddad syndrome	26	Uncertain significance
4:41748022	NM_003924.4(PHOX2B):c.747A>C (p.Ala249=)	rs1443950997	Haddad syndrome\|Hereditary cancer-predisposing syndrome	28	Likely benign
4:41748022	NM_003924.4(PHOX2B):c.747A>G (p.Ala249=)	NA	Haddad syndrome	28	Likely benign
4:41748023	NM_003924.4(PHOX2B):c.746C>T (p.Ala249Val)	rs752867315	Haddad syndrome	29	Uncertain significance
4:41748024	NM_003924.4(PHOX2B):c.745G>A (p.Ala249Thr)	rs1276685806	Haddad syndrome	30	Uncertain significance
4:41748025	NM_003924.4(PHOX2B):c.744G>C (p.Ala248=)	rs758533453	Haddad syndrome	31	Likely benign
4:41748025	NM_003924.4(PHOX2B):c.726_743dup (p.Ala255_Ala260dup)	NA	not provided	31	Pathogenic
4:41748025	NM_003924.4(PHOX2B):c.744G>A (p.Ala248=)	NA	Haddad syndrome	31	Likely benign
4:41748026	NM_003924.4(PHOX2B):c.723_743del (p.Ala254_Ala260del)	rs1064792993	Haddad syndrome	32	Likely benign
4:41748026	NM_003924.4(PHOX2B):c.743C>T (p.Ala248Val)	rs1733881041	Haddad syndrome	32	Uncertain significance
4:41748026	NM_003924.4(PHOX2B):c.743C>A (p.Ala248Glu)	NA	Haddad syndrome	32	Uncertain significance
4:41748028	NM_003924.4(PHOX2B):c.741C>A (p.Ala247=)	rs764470906	Haddad syndrome	34	Likely benign
4:41748028	NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)	rs764470906	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome\|not provided	34	Conflicting interpretations of pathogenicity
4:41748030	NM_003924.4(PHOX2B):c.739G>A (p.Ala247Thr)	rs1733881500	Haddad syndrome	36	Uncertain significance
4:41748031	NM_003924.4(PHOX2B):c.738G>A (p.Ala246=)	NA	Haddad syndrome	37	Likely benign
4:41748031	NM_003924.4(PHOX2B):c.738G>C (p.Ala246=)	NA	Haddad syndrome	37	Likely benign
4:41748034	NM_003924.4(PHOX2B):c.735G>A (p.Ala245=)	NA	Haddad syndrome	40	Likely benign
4:41748035	NM_003924.4(PHOX2B):c.734C>T (p.Ala245Val)	rs1733881745	Haddad syndrome\|Hereditary cancer-predisposing syndrome	41	Uncertain significance
4:41748036	NM_003924.4(PHOX2B):c.732_733insTCG (p.Ala244_Ala245insSer)	rs1733882011	Haddad syndrome	42	Uncertain significance
4:41748036	NM_003924.4(PHOX2B):c.733G>A (p.Ala245Thr)	NA	Haddad syndrome	42	Uncertain significance
4:41748037	NM_003924.4(PHOX2B):c.732G>C (p.Ala244=)	NA	Haddad syndrome	43	Likely benign
4:41748038	NM_003924.4(PHOX2B):c.731C>T (p.Ala244Val)	rs1191194818	Haddad syndrome	44	Uncertain significance
4:41748038	NM_003924.4(PHOX2B):c.731C>A (p.Ala244Glu)	NA	Haddad syndrome	44	Uncertain significance
4:41748039	NM_003924.4(PHOX2B):c.730G>C (p.Ala244Pro)	rs1060501124	Haddad syndrome	45	Uncertain significance
4:41748040	NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)	rs751829128	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	46	Conflicting interpretations of pathogenicity
4:41748040	NM_003924.4(PHOX2B):c.729A>C (p.Ala243=)	NA	Haddad syndrome	46	Likely benign
4:41748041	NM_003924.4(PHOX2B):c.728C>T (p.Ala243Val)	rs1482074468	Haddad syndrome\|Hereditary cancer-predisposing syndrome	47	Uncertain significance
4:41748043	NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)	rs757355779	not specified\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Hereditary cancer-predisposing syndrome\|Haddad syndrome\|not provided	49	Benign/Likely benign
4:41748043	NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)	rs757355779	not specified\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Hereditary cancer-predisposing syndrome\|Haddad syndrome\|not provided	49	Benign/Likely benign
4:41748044	NM_003924.4(PHOX2B):c.725C>T (p.Ala242Val)	rs1733882577	Haddad syndrome	50	Uncertain significance
4:41748046	NM_003924.4(PHOX2B):c.723A>G (p.Ala241=)	rs1204677453	not provided\|Haddad syndrome	52	Likely benign
4:41748049	NM_003924.4(PHOX2B):c.720C>T (p.Gly240=)	NA	Haddad syndrome	55	Likely benign
4:41748050	NM_003924.4(PHOX2B):c.719G>A (p.Gly240Asp)	rs917558720	Haddad syndrome\|Hereditary cancer-predisposing syndrome	56	Uncertain significance
4:41748051	NM_003924.4(PHOX2B):c.718G>A (p.Gly240Ser)	rs1183113572	Haddad syndrome	57	Uncertain significance
4:41748051	NM_003924.4(PHOX2B):c.718G>T (p.Gly240Cys)	rs1183113572	Haddad syndrome	57	Uncertain significance
4:41748052	NM_003924.4(PHOX2B):c.717C>A (p.Gly239=)	NA	Haddad syndrome	58	Likely benign
4:41748053	NM_003924.4(PHOX2B):c.716G>A (p.Gly239Asp)	rs1577559052	Haddad syndrome	59	Uncertain significance
4:41748053	NM_003924.4(PHOX2B):c.716G>T (p.Gly239Val)	NA	Haddad syndrome	59	Uncertain significance
4:41748054	NM_003924.4(PHOX2B):c.715G>T (p.Gly239Cys)	rs1577559055	Hereditary cancer-predisposing syndrome	60	Uncertain significance
4:41748054	NM_003924.4(PHOX2B):c.715G>A (p.Gly239Ser)	rs1577559055	Haddad syndrome	60	Uncertain significance
4:41748055	NM_003924.4(PHOX2B):c.714G>A (p.Lys238=)	rs1553897810	Haddad syndrome	61	Likely benign
4:41748055	NM_003924.4(PHOX2B):c.714G>T (p.Lys238Asn)	rs1553897810	Haddad syndrome	61	Uncertain significance
4:41748056	NM_003924.4(PHOX2B):c.713A>G (p.Lys238Arg)	rs1733883244	Haddad syndrome	62	Uncertain significance
4:41748058	NM_003924.4(PHOX2B):c.711C>T (p.Gly237=)	rs1733883306	Haddad syndrome	64	Uncertain significance
4:41748059	NM_003924.4(PHOX2B):c.710G>A (p.Gly237Asp)	rs1468135641	Haddad syndrome	65	Uncertain significance
4:41748059	NM_003924.4(PHOX2B):c.710G>C (p.Gly237Ala)	NA	Haddad syndrome	65	Uncertain significance
4:41748060	NM_003924.4(PHOX2B):c.709G>C (p.Gly237Arg)	rs1256766962	Hereditary cancer-predisposing syndrome\|Haddad syndrome	66	Uncertain significance
4:41748060	NM_003924.4(PHOX2B):c.709G>A (p.Gly237Ser)	NA	Haddad syndrome	66	Uncertain significance
4:41748061	NM_003924.4(PHOX2B):c.708C>T (p.Pro236=)	rs949110097	Hereditary cancer-predisposing syndrome\|Haddad syndrome	67	Likely benign
4:41748061	NM_003924.4(PHOX2B):c.708C>G (p.Pro236=)	NA	Haddad syndrome	67	Likely benign
4:41748062	NM_003924.4(PHOX2B):c.707C>T (p.Pro236Leu)	NA	Haddad syndrome	68	Uncertain significance
4:41748066	NM_003924.4(PHOX2B):c.703G>T (p.Glu235Ter)	rs1733883652	Haddad syndrome	72	Uncertain significance
4:41748067	NM_003924.4(PHOX2B):c.702C>G (p.Gly234=)	rs1293065990	Hereditary cancer-predisposing syndrome\|Haddad syndrome	73	Likely benign
4:41748069	NM_003924.4(PHOX2B):c.700G>A (p.Gly234Ser)	rs1289310797	Haddad syndrome	75	Uncertain significance
4:41748070	NM_003924.4(PHOX2B):c.691_698dup (p.Gly234fs)	NA	Haddad syndrome	76	Pathogenic
4:41748070	NM_003924.4(PHOX2B):c.699A>G (p.Gly233=)	NA	Haddad syndrome	76	Likely benign
4:41748071	NM_003924.4(PHOX2B):c.691_698del (p.Gly231fs)	NA	Congenital central hypoventilation	77	Likely pathogenic
4:41748075	NM_003924.4(PHOX2B):c.694C>A (p.Pro232Thr)	rs1433654836	Hereditary cancer-predisposing syndrome\|Haddad syndrome	81	Uncertain significance
4:41748075	NM_003924.4(PHOX2B):c.694C>G (p.Pro232Ala)	rs1433654836	Haddad syndrome	81	Uncertain significance
4:41748077	NM_003924.4(PHOX2B):c.692G>A (p.Gly231Asp)	rs1044995380	Haddad syndrome	83	Uncertain significance
4:41748077	NM_003924.4(PHOX2B):c.692del (p.Gly231fs)	NA	Haddad syndrome	83	Pathogenic
4:41748078	NM_003924.4(PHOX2B):c.691G>A (p.Gly231Ser)	rs1577559082	Hereditary cancer-predisposing syndrome\|Haddad syndrome	84	Uncertain significance
4:41748079	NM_003924.4(PHOX2B):c.690G>A (p.Gly230=)	rs1553897816	not provided\|Haddad syndrome	85	Likely benign
4:41748080	NM_003924.4(PHOX2B):c.689G>A (p.Gly230Glu)	rs1577559086	Hereditary cancer-predisposing syndrome	86	Uncertain significance
4:41748080	NM_003924.4(PHOX2B):c.689G>C (p.Gly230Ala)	rs1577559086	Haddad syndrome	86	Uncertain significance
4:41748081	NM_003924.4(PHOX2B):c.688G>C (p.Gly230Arg)	rs1733884523	Haddad syndrome\|Hereditary cancer-predisposing syndrome	87	Uncertain significance
4:41748081	NM_003924.4(PHOX2B):c.688G>A (p.Gly230Arg)	rs1733884523	Haddad syndrome	87	Uncertain significance
4:41748082	NM_003924.4(PHOX2B):c.687C>G (p.Pro229=)	rs1391920139	Haddad syndrome	88	Likely benign
4:41748084	NM_003924.4(PHOX2B):c.685C>A (p.Pro229Thr)	NA	Haddad syndrome	90	Uncertain significance
4:41748086	NM_003924.4(PHOX2B):c.683G>T (p.Gly228Val)	rs1335294030	Hereditary cancer-predisposing syndrome\|Haddad syndrome	92	Uncertain significance
4:41748087	NM_003924.4(PHOX2B):c.682G>A (p.Gly228Arg)	rs1168393338	Congenital central hypoventilation	93	Uncertain significance
4:41748088	NM_003924.4(PHOX2B):c.681G>A (p.Ala227=)	rs878854617	not provided\|Haddad syndrome	94	Likely benign
4:41748088	NM_003924.4(PHOX2B):c.681G>A (p.Ala227=)	rs878854617	not provided\|Haddad syndrome	94	Likely benign
4:41748089	NM_003924.4(PHOX2B):c.680C>G (p.Ala227Gly)	rs779913205	Haddad syndrome	95	Uncertain significance
4:41748089	NM_003924.4(PHOX2B):c.679_680delinsTT (p.Ala227Leu)	rs1577559108	Haddad syndrome\|Hereditary cancer-predisposing syndrome	95	Uncertain significance
4:41748089	NM_003924.4(PHOX2B):c.680C>A (p.Ala227Glu)	rs779913205	Haddad syndrome	95	Uncertain significance
4:41748090	NM_003924.4(PHOX2B):c.679G>A (p.Ala227Thr)	rs778799670	Haddad syndrome	96	Uncertain significance
4:41748090	NM_003924.4(PHOX2B):c.679G>T (p.Ala227Ser)	rs778799670	Haddad syndrome	96	Uncertain significance
4:41748091	NM_003924.4(PHOX2B):c.678G>C (p.Ala226=)	rs1577559118	not provided\|Haddad syndrome	97	Likely benign
4:41748091	NM_003924.4(PHOX2B):c.678G>T (p.Ala226=)	rs1577559118	not provided\|Haddad syndrome	97	Likely benign
4:41748092	NM_003924.4(PHOX2B):c.677C>T (p.Ala226Val)	rs926554947	Haddad syndrome	98	Uncertain significance
4:41748092	NM_003924.4(PHOX2B):c.677C>A (p.Ala226Glu)	NA	Haddad syndrome	98	Uncertain significance
4:41748093	NM_003924.4(PHOX2B):c.676G>C (p.Ala226Pro)	rs936469212	Haddad syndrome	99	Uncertain significance
4:41748093	NM_003924.4(PHOX2B):c.676G>A (p.Ala226Thr)	rs936469212	Hereditary cancer-predisposing syndrome\|Haddad syndrome	99	Uncertain significance
4:41748094	NM_003924.4(PHOX2B):c.675G>A (p.Gly225=)	rs1577559129	Hereditary cancer-predisposing syndrome\|Haddad syndrome	100	Likely benign
4:41748094	NM_003924.4(PHOX2B):c.675G>T (p.Gly225=)	NA	Haddad syndrome	100	Uncertain significance
4:41748097	NM_003924.4(PHOX2B):c.672G>C (p.Pro224=)	NA	Haddad syndrome	103	Likely benign
4:41748097	NM_003924.4(PHOX2B):c.672G>A (p.Pro224=)	NA	Haddad syndrome\|Hereditary cancer-predisposing syndrome	103	Likely benign
4:41748098	NM_003924.4(PHOX2B):c.671C>T (p.Pro224Leu)	rs1733886361	Haddad syndrome	104	Uncertain significance
4:41748099	NM_003924.4(PHOX2B):c.670C>A (p.Pro224Thr)	rs1060501118	Haddad syndrome\|not provided	105	Uncertain significance
4:41748100	NM_003924.4(PHOX2B):c.669T>G (p.Ala223=)	rs1553897837	Hereditary cancer-predisposing syndrome	106	Likely benign
4:41748100	NM_003924.4(PHOX2B):c.649_669del (p.Gly217_Ala223del)	rs1233756366	Hereditary cancer-predisposing syndrome\|Haddad syndrome	106	Uncertain significance
4:41748102	NM_003924.4(PHOX2B):c.667G>T (p.Ala223Ser)	rs747713899	Haddad syndrome	108	Uncertain significance
4:41748102	NM_003924.4(PHOX2B):c.667G>A (p.Ala223Thr)	rs747713899	Haddad syndrome	108	Uncertain significance
4:41748104	NM_003924.4(PHOX2B):c.665G>C (p.Gly222Ala)	rs771563787	Haddad syndrome\|Hereditary cancer-predisposing syndrome	110	Uncertain significance
4:41748107	NM_003924.4(PHOX2B):c.662C>T (p.Ala221Val)	NA	Haddad syndrome	113	Uncertain significance
4:41748108	NM_003924.4(PHOX2B):c.661G>A (p.Ala221Thr)	rs746684161	Haddad syndrome\|Hereditary cancer-predisposing syndrome	114	Uncertain significance
4:41748108	NM_003924.4(PHOX2B):c.661G>C (p.Ala221Pro)	NA	Haddad syndrome	114	Uncertain significance
4:41748109	NM_003924.4(PHOX2B):c.660G>A (p.Pro220=)	NA	Haddad syndrome	115	Likely benign
4:41748110	NM_003924.4(PHOX2B):c.659C>G (p.Pro220Arg)	rs1733887201	Haddad syndrome	116	Uncertain significance
4:41748110	NM_003924.4(PHOX2B):c.659C>T (p.Pro220Leu)	NA	Haddad syndrome	116	Uncertain significance
4:41748112	NM_003924.4(PHOX2B):c.657C>A (p.Ser219Arg)	NA	Haddad syndrome	118	Uncertain significance
4:41748113	NM_003924.4(PHOX2B):c.656G>A (p.Ser219Asn)	rs1733887381	Haddad syndrome	119	Uncertain significance
4:41748114	NM_003924.4(PHOX2B):c.655A>G (p.Ser219Gly)	rs1560465666	Haddad syndrome	120	Uncertain significance
4:41748115	NM_003924.4(PHOX2B):c.654C>A (p.Pro218=)	rs770437869	Haddad syndrome\|Hereditary cancer-predisposing syndrome	121	Likely benign
4:41748115	NM_003924.4(PHOX2B):c.654C>T (p.Pro218=)	NA	Haddad syndrome	121	Likely benign
4:41748118	NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup)	rs760638643	Haddad syndrome	124	Uncertain significance
4:41748118	NM_003924.4(PHOX2B):c.651G>T (p.Gly217=)	NA	Haddad syndrome	124	Likely benign
4:41748119	NM_003924.4(PHOX2B):c.639CGG[3] (p.Gly217del)	NA	Haddad syndrome	125	Uncertain significance
4:41748120	NM_003924.4(PHOX2B):c.649G>A (p.Gly217Arg)	rs759792321	Haddad syndrome	126	Uncertain significance
4:41748120	NM_003924.4(PHOX2B):c.649G>C (p.Gly217Arg)	NA	Haddad syndrome	126	Uncertain significance
4:41748121	NM_003924.4(PHOX2B):c.648C>T (p.Gly216=)	rs1010286039	Hereditary cancer-predisposing syndrome\|Haddad syndrome	127	Conflicting interpretations of pathogenicity
4:41748121	NM_003924.4(PHOX2B):c.648C>A (p.Gly216=)	NA	Haddad syndrome	127	Likely benign
4:41748123	NM_003924.4(PHOX2B):c.646G>A (p.Gly216Ser)	NA	Haddad syndrome	129	Uncertain significance
4:41748124	NM_003924.4(PHOX2B):c.645C>T (p.Gly215=)	rs1577559183	not provided\|Haddad syndrome	130	Likely benign
4:41748125	NM_003924.4(PHOX2B):c.644G>A (p.Gly215Asp)	NA	Haddad syndrome	131	Uncertain significance
4:41748127	NM_003924.4(PHOX2B):c.642C>T (p.Gly214=)	rs190973308	Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided	133	Benign/Likely benign
4:41748127	NM_003924.4(PHOX2B):c.636_641dup (p.Gly216_Gly217dup)	rs1553897847	Haddad syndrome	133	Uncertain significance
4:41748127	NM_003924.4(PHOX2B):c.641_642delinsAA (p.Gly214Glu)	rs1733890028	Haddad syndrome	133	Uncertain significance
4:41748128	NM_003924.4(PHOX2B):c.641G>C (p.Gly214Ala)	rs1733890084	Haddad syndrome	134	Uncertain significance
4:41748129	NM_003924.4(PHOX2B):c.640G>T (p.Gly214Cys)	rs776131193	Haddad syndrome	135	Uncertain significance
4:41748130	NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)	rs17879258	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Hereditary cancer-predisposing syndrome\|not specified\|Haddad syndrome	136	Benign/Likely benign
4:41748130	NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)	rs17879258	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Hereditary cancer-predisposing syndrome\|not specified\|Haddad syndrome	136	Benign/Likely benign
4:41748130	NM_003924.4(PHOX2B):c.639C>T (p.Gly213=)	rs17879258	Haddad syndrome\|Hereditary cancer-predisposing syndrome	136	Likely benign
4:41748130	NM_003924.4(PHOX2B):c.639C>A (p.Gly213=)	NA	Haddad syndrome	136	Likely benign
4:41748131	NM_003924.4(PHOX2B):c.638G>A (p.Gly213Asp)	rs1328014263	Hereditary cancer-predisposing syndrome	137	Uncertain significance
4:41748131	NM_003924.4(PHOX2B):c.638G>T (p.Gly213Val)	NA	Haddad syndrome	137	Uncertain significance
4:41748132	NM_003924.4(PHOX2B):c.637G>A (p.Gly213Ser)	rs762119056	Haddad syndrome	138	Uncertain significance
4:41748134	NM_003924.4(PHOX2B):c.635G>C (p.Gly212Ala)	rs1733890495	Haddad syndrome	140	Uncertain significance
4:41748136	NM_003924.4(PHOX2B):c.633T>G (p.Asn211Lys)	rs1060501120	Hereditary cancer-predisposing syndrome\|Haddad syndrome	142	Uncertain significance
4:41748137	NM_003924.4(PHOX2B):c.632A>G (p.Asn211Ser)	rs1733890628	Haddad syndrome	143	Uncertain significance
4:41748139	NM_003924.4(PHOX2B):c.630G>T (p.Ala210=)	rs370087972	Haddad syndrome\|Hereditary cancer-predisposing syndrome	145	Likely benign
4:41748140	NM_003924.4(PHOX2B):c.629C>A (p.Ala210Glu)	NA	Haddad syndrome	146	Uncertain significance
4:41748145	NM_003924.4(PHOX2B):c.624C>T (p.Cys208=)	rs1060504149	Haddad syndrome	151	Likely benign
4:41748150	NM_003924.4(PHOX2B):c.618dup (p.Ser207fs)	rs587776626	Congenital central hypoventilation	156	Pathogenic
4:41748150	NM_003924.4(PHOX2B):c.618dup (p.Ser207fs)	rs587776626	Congenital central hypoventilation	156	Pathogenic
4:41748151	NM_003924.4(PHOX2B):c.618del (p.Ser207fs)	rs587776626	Haddad syndrome	157	Likely pathogenic
4:41748152	NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)	rs587778606	not specified\|not provided\|Haddad syndrome	158	Uncertain significance
4:41748152	NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)	rs587778606	not specified\|not provided\|Haddad syndrome	158	Uncertain significance
4:41748152	NM_003924.4(PHOX2B):c.617C>T (p.Pro206Leu)	rs587778606	Hereditary cancer-predisposing syndrome\|Haddad syndrome	158	Uncertain significance
4:41748153	NM_003924.4(PHOX2B):c.616C>T (p.Pro206Ser)	NA	Haddad syndrome	159	Uncertain significance
4:41748155	NM_003924.4(PHOX2B):c.614C>A (p.Thr205Asn)	NA	Haddad syndrome	161	Uncertain significance
4:41748159	NM_003924.4(PHOX2B):c.610C>G (p.Pro204Ala)	rs1292727082	Haddad syndrome\|Congenital central hypoventilation	165	Uncertain significance
4:41748159	NM_003924.4(PHOX2B):c.610C>A (p.Pro204Thr)	NA	Haddad syndrome	165	Uncertain significance
4:41748161	NM_003924.4(PHOX2B):c.608A>C (p.Asn203Thr)	rs778887680	Haddad syndrome	167	Uncertain significance
4:41748161	NM_003924.4(PHOX2B):c.608A>G (p.Asn203Ser)	NA	Haddad syndrome	167	Uncertain significance
4:41748161	NM_003924.4(PHOX2B):c.608A>T (p.Asn203Ile)	NA	Haddad syndrome	167	Uncertain significance
4:41748166	NM_003924.4(PHOX2B):c.603T>A (p.Asn201Lys)	rs1553897857	Haddad syndrome	172	Uncertain significance
4:41748167	NM_003924.4(PHOX2B):c.602A>G (p.Asn201Ser)	rs1018470617	Haddad syndrome	173	Uncertain significance
4:41748169	NM_003924.4(PHOX2B):c.600C>G (p.Pro200=)	NA	Haddad syndrome	175	Likely benign
4:41748170	NM_003924.4(PHOX2B):c.599C>T (p.Pro200Leu)	rs964285984	Haddad syndrome\|Neuroblastoma, susceptibility to, 2	176	Uncertain significance
4:41748170	NM_003924.4(PHOX2B):c.599C>A (p.Pro200His)	NA	Haddad syndrome	176	Uncertain significance
4:41748178	NM_003924.4(PHOX2B):c.591C>G (p.Gly197=)	rs144414806	not specified\|Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided	184	Benign/Likely benign
4:41748178	NM_003924.4(PHOX2B):c.591C>G (p.Gly197=)	rs144414806	not specified\|Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided	184	Benign/Likely benign
4:41748178	NM_003924.4(PHOX2B):c.591C>A (p.Gly197=)	NA	Congenital central hypoventilation\|Haddad syndrome	184	Conflicting interpretations of pathogenicity
4:41748179	NM_003924.4(PHOX2B):c.590G>A (p.Gly197Asp)	rs104893856	Neuroblastoma, susceptibility to, 2	185	risk factor
4:41748179	NM_003924.4(PHOX2B):c.590G>A (p.Gly197Asp)	rs104893856	Neuroblastoma, susceptibility to, 2	185	risk factor
4:41748179	NM_003924.4(PHOX2B):c.590G>T (p.Gly197Val)	rs104893856	Haddad syndrome	185	Uncertain significance
4:41748190	NM_003924.4(PHOX2B):c.579C>A (p.Asp193Glu)	rs1733892452	Haddad syndrome	196	Uncertain significance
4:41748190	NM_003924.4(PHOX2B):c.579C>G (p.Asp193Glu)	NA	Haddad syndrome	196	Uncertain significance
4:41748192	NM_003924.4(PHOX2B):c.577G>C (p.Asp193His)	rs1577559273	Hereditary cancer-predisposing syndrome\|Haddad syndrome	198	Uncertain significance
4:41748193	NM_003924.4(PHOX2B):c.576G>A (p.Pro192=)	NA	Haddad syndrome	199	Likely benign
4:41748194	NM_003924.4(PHOX2B):c.575C>T (p.Pro192Leu)	rs1733892653	Haddad syndrome	200	Uncertain significance
4:41748200	NM_003924.4(PHOX2B):c.569C>T (p.Thr190Ile)	NA	Haddad syndrome	206	Uncertain significance
4:41748205	NM_003924.4(PHOX2B):c.564G>C (p.Lys188Asn)	rs1733892834	Haddad syndrome	211	Uncertain significance
4:41748209	NM_003924.4(PHOX2B):c.560C>A (p.Ala187Asp)	rs1191400815	Haddad syndrome\|Hereditary cancer-predisposing syndrome	215	Uncertain significance
4:41748209	NM_003924.4(PHOX2B):c.560C>T (p.Ala187Val)	rs1191400815	Haddad syndrome	215	Uncertain significance
4:41748211	NM_003924.4(PHOX2B):c.558G>A (p.Glu186=)	NA	Haddad syndrome	217	Likely benign
4:41748213	NM_003924.4(PHOX2B):c.556G>A (p.Glu186Lys)	rs1560465720	Neuroblastoma, susceptibility to, 2	219	Uncertain significance
4:41748216	NM_003924.4(PHOX2B):c.553A>G (p.Lys185Glu)	rs1733894210	Haddad syndrome	222	Uncertain significance
4:41748217	NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)	rs17885216	not specified\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|not provided\|Hereditary cancer-predisposing syndrome\|Haddad syndrome	223	Benign
4:41748217	NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)	rs17885216	not specified\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|not provided\|Hereditary cancer-predisposing syndrome\|Haddad syndrome	223	Benign
4:41748219	NM_003924.4(PHOX2B):c.550A>G (p.Ser184Gly)	rs1733894415	Haddad syndrome	225	Uncertain significance
4:41748220	NM_003924.4(PHOX2B):c.549G>A (p.Glu183=)	NA	Haddad syndrome	226	Likely benign
4:41748223	NM_003924.4(PHOX2B):c.546C>A (p.Asp182Glu)	rs1733894646	Haddad syndrome	229	Uncertain significance
4:41748224	NM_003924.4(PHOX2B):c.545A>C (p.Asp182Ala)	NA	Haddad syndrome	230	Uncertain significance
4:41748225	NM_003924.4(PHOX2B):c.544G>A (p.Asp182Asn)	NA	Haddad syndrome	231	Uncertain significance
4:41748226	NM_003924.4(PHOX2B):c.543C>T (p.Asp181=)	rs780690330	Haddad syndrome	232	Likely benign
4:41748230	NM_003924.4(PHOX2B):c.539G>C (p.Arg180Thr)	rs1395378700	Hereditary cancer-predisposing syndrome\|Haddad syndrome\|Predisposition to neuroblastoma	236	Uncertain significance
4:41748232	NM_003924.4(PHOX2B):c.537C>A (p.Ser179=)	NA	Haddad syndrome	238	Likely benign
4:41748236	NM_003924.4(PHOX2B):c.533C>T (p.Ser178Phe)	NA	Haddad syndrome	242	Uncertain significance
4:41748237	NM_003924.4(PHOX2B):c.532T>A (p.Ser178Thr)	rs1577559313	Haddad syndrome	243	Uncertain significance
4:41748238	NM_003924.4(PHOX2B):c.531C>T (p.Asp177=)	rs746303997	Haddad syndrome	244	Likely benign
4:41748245	NM_003924.4(PHOX2B):c.524A>T (p.Lys175Met)	rs1060501119	Haddad syndrome	251	Uncertain significance
4:41748245	NM_003924.4(PHOX2B):c.524A>G (p.Lys175Arg)	rs1060501119	Haddad syndrome	251	Uncertain significance
4:41748249	NM_003924.4(PHOX2B):c.520A>G (p.Lys174Glu)	rs1733895906	Haddad syndrome\|Hereditary cancer-predisposing syndrome	255	Uncertain significance
4:41748251	NM_003924.4(PHOX2B):c.518G>A (p.Gly173Asp)	rs866814213	Haddad syndrome	257	Uncertain significance
4:41748251	NM_003924.4(PHOX2B):c.518G>T (p.Gly173Val)	NA	Haddad syndrome	257	Uncertain significance
4:41748253	NM_003924.4(PHOX2B):c.516G>T (p.Ser172=)	NA	Haddad syndrome	259	Likely benign
4:41748254	NM_003924.4(PHOX2B):c.515C>T (p.Ser172Leu)	rs1560465736	Haddad syndrome	260	Uncertain significance
4:41748254	NM_003924.4(PHOX2B):c.515C>G (p.Ser172Trp)	rs1560465736	Haddad syndrome	260	Uncertain significance
4:41748257	NM_003924.4(PHOX2B):c.512C>G (p.Ser171Cys)	NA	Haddad syndrome	263	Uncertain significance
4:41748259	NM_003924.4(PHOX2B):c.510C>T (p.Gly170=)	NA	Haddad syndrome	265	Likely benign
4:41748261	NM_003924.4(PHOX2B):c.508G>C (p.Gly170Arg)	rs775931264	Hereditary cancer-predisposing syndrome\|Haddad syndrome	267	Uncertain significance
4:41748261	NM_003924.4(PHOX2B):c.508G>A (p.Gly170Ser)	NA	Haddad syndrome	267	Uncertain significance
4:41748261	NM_003924.4(PHOX2B):c.508G>T (p.Gly170Cys)	NA	Haddad syndrome	267	Uncertain significance
4:41748262	NM_003924.4(PHOX2B):c.507C>A (p.Asn169Lys)	NA	Haddad syndrome	268	Uncertain significance
4:41748267	NM_003924.4(PHOX2B):c.490GCGGCC[3] (p.Ala166_Ala167dup)	rs1733896798	Haddad syndrome	273	Uncertain significance
4:41748267	NM_003924.4(PHOX2B):c.484_501dup (p.Ala162_Ala167dup)	NA	Haddad syndrome	273	Uncertain significance
4:41748270	NM_003924.4(PHOX2B):c.499G>A (p.Ala167Thr)	rs1338837491	Haddad syndrome	276	Uncertain significance
4:41748271	NM_003924.4(PHOX2B):c.498G>A (p.Ala166=)	NA	Haddad syndrome	277	Likely benign
4:41748271	NM_003924.4(PHOX2B):c.486_497dup (p.Ala164_Ala167dup)	NA	Haddad syndrome	277	Uncertain significance
4:41748272	NM_003924.4(PHOX2B):c.497C>T (p.Ala166Val)	rs774521395	Haddad syndrome	278	Uncertain significance
4:41748272	NM_003924.4(PHOX2B):c.497C>A (p.Ala166Glu)	rs774521395	Haddad syndrome	278	Uncertain significance
4:41748274	NM_003924.4(PHOX2B):c.495C>T (p.Ala165=)	rs1333598816	Haddad syndrome	280	Likely benign
4:41748274	NM_003924.4(PHOX2B):c.495C>G (p.Ala165=)	NA	Haddad syndrome	280	Likely benign
4:41748274	NM_003924.4(PHOX2B):c.483_494dup (p.Ala164_Ala167dup)	NA	Haddad syndrome	280	Uncertain significance
4:41748282	NM_003924.4(PHOX2B):c.487G>T (p.Ala163Ser)	rs767837376	Haddad syndrome	288	Uncertain significance
4:41748282	NM_003924.4(PHOX2B):c.487G>A (p.Ala163Thr)	rs767837376	Haddad syndrome	288	Uncertain significance
4:41748283	NM_003924.4(PHOX2B):c.486C>T (p.Ala162=)	rs547677836	Hereditary cancer-predisposing syndrome\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	289	Benign/Likely benign
4:41748283	NM_003924.4(PHOX2B):c.486C>A (p.Ala162=)	rs547677836	Haddad syndrome	289	Likely benign
4:41748286	NM_003924.4(PHOX2B):c.483A>C (p.Ala161=)	NA	Haddad syndrome	292	Likely benign
4:41748289	NM_003924.4(PHOX2B):c.480G>C (p.Ala160=)	rs752437432	Haddad syndrome	295	Likely benign
4:41748289	NM_003924.4(PHOX2B):c.480G>A (p.Ala160=)	rs752437432	Hereditary cancer-predisposing syndrome	295	Likely benign
4:41748290	NM_003924.4(PHOX2B):c.479C>G (p.Ala160Gly)	rs1577559372	Haddad syndrome	296	Uncertain significance
4:41748290	NM_003924.4(PHOX2B):c.479C>T (p.Ala160Val)	rs1577559372	Hereditary cancer-predisposing syndrome	296	Uncertain significance
4:41748293	NM_003924.4(PHOX2B):c.476C>T (p.Ala159Val)	rs1733898242	Haddad syndrome	299	Uncertain significance
4:41748294	NM_003924.4(PHOX2B):c.475G>T (p.Ala159Ser)	NA	Haddad syndrome	300	Uncertain significance
4:41748316	NM_003924.4(PHOX2B):c.453C>T (p.Ala151=)	rs1577559389	Hereditary cancer-predisposing syndrome	322	Likely benign
4:41748319	NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)	rs17881486	not specified\|Hereditary cancer-predisposing syndrome\|not provided\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	325	Benign/Likely benign
4:41748319	NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)	rs17881486	not specified\|Hereditary cancer-predisposing syndrome\|not provided\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	325	Benign/Likely benign
4:41748319	NM_003924.4(PHOX2B):c.450C>A (p.Arg150=)	rs17881486	Hereditary cancer-predisposing syndrome	325	Likely benign
4:41748319	NM_003924.4(PHOX2B):c.450C>T (p.Arg150=)	NA	Haddad syndrome	325	Likely benign
4:41748323	NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)	rs1733899167	Congenital central hypoventilation	329	Pathogenic
4:41748324	NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly)	rs1560465785	Aganglionic megacolon	330	Likely pathogenic
4:41748329	NM_003924.4(PHOX2B):c.440A>G (p.Gln147Arg)	NA	Congenital central hypoventilation	335	Likely pathogenic
4:41748341	NM_003924.4(PHOX2B):c.430-2A>G	NA	Haddad syndrome	347	Uncertain significance
4:41748344	NM_003924.4(PHOX2B):c.430-5G>A	rs751132977	not provided\|Haddad syndrome	350	Likely benign
4:41748345	NM_003924.4(PHOX2B):c.430-6G>C	NA	Haddad syndrome	351	Likely benign
4:41748347	NM_003924.4(PHOX2B):c.430-8T>C	NA	Haddad syndrome	353	Likely benign
4:41748347	NM_003924.4(PHOX2B):c.430-8T>G	NA	Haddad syndrome	353	Likely benign
4:41748351	NM_003924.4(PHOX2B):c.430-12G>A	NA	Haddad syndrome	357	Likely benign
4:41748354	NM_003924.4(PHOX2B):c.430-15T>G	NA	Haddad syndrome	360	Likely benign
4:41748359	NM_003924.4(PHOX2B):c.430-20C>T	NA	Haddad syndrome	365	Likely benign
4:41748359	NM_003924.4(PHOX2B):c.430-20C>G	NA	Haddad syndrome	365	Likely benign
4:41748377	NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)	rs73810366	not specified\|Hereditary cancer-predisposing syndrome\|not provided\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	383	Benign/Likely benign
4:41748476	NM_003924.4(PHOX2B):c.135C>T (p.Asn45=)	rs878854616	Haddad syndrome	482	Likely benign
4:41748511	NM_003924.4(PHOX2B):c.430-172A>C	NA	not provided	517	Benign
4:41748552	NM_003924.4(PHOX2B):c.59G>C (p.Gly20Ala)	rs587778605	not specified\|Haddad syndrome	558	Uncertain significance
4:41749265	NM_003924.4(PHOX2B):c.429+101A>G	NA	not provided	1271	Benign
4:41749286	NM_003924.4(PHOX2B):c.429+80G>T	NA	not provided	1292	Likely benign
4:41749352	NM_003924.4(PHOX2B):c.429+14del	NA	Haddad syndrome	1358	Likely benign
4:41749353	NM_003924.4(PHOX2B):c.429+13G>A	NA	Haddad syndrome	1359	Likely benign
4:41749353	NM_003924.4(PHOX2B):c.429+13G>C	NA	Haddad syndrome	1359	Likely benign
4:41749354	NM_003924.4(PHOX2B):c.429+12T>A	NA	Haddad syndrome	1360	Likely benign
4:41749356	NM_003924.4(PHOX2B):c.429+10C>T	NA	Haddad syndrome	1362	Likely benign
4:41749356	NM_003924.4(PHOX2B):c.429+5GC[2]	NA	Haddad syndrome	1362	Likely benign
4:41749357	NM_003924.4(PHOX2B):c.429+9G>T	rs543317710	Haddad syndrome	1363	Likely benign
4:41749357	NM_003924.4(PHOX2B):c.429+9G>A	rs543317710	not provided\|Haddad syndrome	1363	Likely benign
4:41749358	NM_003924.4(PHOX2B):c.429+8C>A	rs779822865	Haddad syndrome	1364	Likely benign
4:41749358	NM_003924.4(PHOX2B):c.429+8C>G	rs779822865	not provided\|Haddad syndrome	1364	Likely benign
4:41749359	NM_003924.4(PHOX2B):c.429+7G>T	rs1577560174	Congenital central hypoventilation	1365	Likely benign
4:41749360	NM_003924.4(PHOX2B):c.429+6C>A	NA	Haddad syndrome	1366	Uncertain significance
4:41749361	NM_003924.4(PHOX2B):c.429+5G>T	rs1278623787	Haddad syndrome	1367	Uncertain significance
4:41749362	NM_003924.4(PHOX2B):c.429+4C>T	rs1173248729	Haddad syndrome\|Hereditary cancer-predisposing syndrome	1368	Uncertain significance
4:41749362	NM_003924.4(PHOX2B):c.429+4C>A	rs1173248729	Hereditary cancer-predisposing syndrome\|Haddad syndrome	1368	Uncertain significance
4:41749372	NM_003924.4(PHOX2B):c.423A>C (p.Arg141_Val142=)	NA	Hereditary cancer-predisposing syndrome	1378	Likely benign
4:41749373	NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln)	rs1733941453	Congenital central hypoventilation	1379	Pathogenic
4:41749374	NM_003924.4(PHOX2B):c.421C>G (p.Arg141Gly)	rs28939716	Hirschsprung disease-ganglioneuroblastoma syndrome	1380	Pathogenic
4:41749374	NM_003924.4(PHOX2B):c.421C>G (p.Arg141Gly)	rs28939716	Hirschsprung disease-ganglioneuroblastoma syndrome	1380	Pathogenic
4:41749374	NM_003924.4(PHOX2B):c.421C>A (p.Arg141=)	NA	Haddad syndrome	1380	Likely benign
4:41749375	NM_003924.4(PHOX2B):c.420G>T (p.Ala140=)	rs1577560187	not provided\|Haddad syndrome	1381	Likely benign
4:41749375	NM_003924.4(PHOX2B):c.420G>A (p.Ala140=)	NA	Haddad syndrome	1381	Likely benign
4:41749378	NM_003924.4(PHOX2B):c.417G>C (p.Glu139Asp)	rs1577560190	Hereditary cancer-predisposing syndrome	1384	Uncertain significance
4:41749384	NM_003924.4(PHOX2B):c.411C>T (p.Leu137=)	NA	Haddad syndrome	1390	Likely benign
4:41749386	NM_003924.4(PHOX2B):c.409C>T (p.Leu137Phe)	rs1577560208	Haddad syndrome	1392	Uncertain significance
4:41749387	NM_003924.4(PHOX2B):c.408C>T (p.Asp136=)	rs1577560212	Haddad syndrome	1393	Likely benign
4:41749389	NM_003924.4(PHOX2B):c.406G>A (p.Asp136Asn)	NA	Haddad syndrome	1395	Uncertain significance
4:41749390	NM_003924.4(PHOX2B):c.405C>T (p.Ile135=)	NA	Haddad syndrome	1396	Likely benign
4:41749391	NM_003924.4(PHOX2B):c.404T>A (p.Ile135Asn)	NA	Haddad syndrome	1397	Uncertain significance
4:41749392	NM_003924.4(PHOX2B):c.403A>G (p.Ile135Val)	rs1577560221	Haddad syndrome	1398	Uncertain significance
4:41749394	NM_003924.4(PHOX2B):c.401A>G (p.Lys134Arg)	rs1400901317	Hereditary cancer-predisposing syndrome	1400	Uncertain significance
4:41749397	NM_003924.4(PHOX2B):c.398T>A (p.Leu133Gln)	rs1553898022	Haddad syndrome	1403	Uncertain significance
4:41749401	NM_003924.4(PHOX2B):c.394G>T (p.Ala132Ser)	NA	Haddad syndrome	1407	Uncertain significance
4:41749402	NM_003924.4(PHOX2B):c.393G>C (p.Leu131=)	rs779269711	Haddad syndrome	1408	Likely benign
4:41749402	NM_003924.4(PHOX2B):c.393G>A (p.Leu131=)	rs779269711	Hereditary cancer-predisposing syndrome\|Haddad syndrome	1408	Likely benign
4:41749404	NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)	rs748614674	Haddad syndrome\|Hereditary cancer-predisposing syndrome	1410	Uncertain significance
4:41749404	NM_003924.4(PHOX2B):c.391C>A (p.Leu131Met)	NA	Haddad syndrome	1410	Uncertain significance
4:41749408	NM_003924.4(PHOX2B):c.387G>A (p.Glu129=)	NA	Haddad syndrome	1414	Likely benign
4:41749410	NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys)	rs1560466246	Congenital central hypoventilation	1416	Conflicting interpretations of pathogenicity
4:41749414	NM_003924.4(PHOX2B):c.381T>C (p.Thr127=)	NA	Haddad syndrome	1420	Likely benign
4:41749415	NM_003924.4(PHOX2B):c.380C>A (p.Thr127Asn)	NA	Haddad syndrome	1421	Uncertain significance
4:41749415	NM_003924.4(PHOX2B):c.380C>T (p.Thr127Ile)	NA	Haddad syndrome	1421	Uncertain significance
4:41749417	NM_003924.4(PHOX2B):c.378C>T (p.Tyr126=)	NA	Haddad syndrome	1423	Likely benign
4:41749418	NM_003924.4(PHOX2B):c.377A>G (p.Tyr126Cys)	NA	Congenital central hypoventilation	1424	Uncertain significance
4:41749422	NM_003924.4(PHOX2B):c.373A>G (p.Ile125Val)	rs560843362	Haddad syndrome\|Hereditary cancer-predisposing syndrome	1428	Uncertain significance
4:41749426	NM_003924.4(PHOX2B):c.369C>T (p.Pro123=)	NA	Haddad syndrome	1432	Likely benign
4:41749426	NM_003924.4(PHOX2B):c.369C>G (p.Pro123=)	NA	Haddad syndrome	1432	Likely benign
4:41749433	NM_003924.4(PHOX2B):c.360_362del (p.His121del)	NA	not provided	1439	Uncertain significance
4:41749435	NM_003924.4(PHOX2B):c.360T>G (p.Thr120=)	NA	Haddad syndrome	1441	Likely benign
4:41749443	NM_003924.4(PHOX2B):c.352G>T (p.Ala118Ser)	NA	Haddad syndrome	1449	Uncertain significance
4:41749444	NM_003924.4(PHOX2B):c.351C>T (p.Phe117=)	NA	Haddad syndrome	1450	Likely benign
4:41749450	NM_003924.4(PHOX2B):c.345G>A (p.Arg115=)	rs747055965	Haddad syndrome\|Hereditary cancer-predisposing syndrome	1456	Likely benign
4:41749451	NM_003924.4(PHOX2B):c.344G>A (p.Arg115Lys)	rs1347766910	Haddad syndrome	1457	Uncertain significance
4:41749451	NM_003924.4(PHOX2B):c.344G>C (p.Arg115Thr)	NA	Haddad syndrome	1457	Uncertain significance
4:41749454	NM_003924.4(PHOX2B):c.341A>C (p.Glu114Ala)	rs1733945578	Haddad syndrome	1460	Uncertain significance
4:41749460	NM_003924.4(PHOX2B):c.335A>T (p.Glu112Val)	rs1553898048	Haddad syndrome	1466	Uncertain significance
4:41749461	NM_003924.4(PHOX2B):c.334G>A (p.Glu112Lys)	rs1432370889	Haddad syndrome	1467	Uncertain significance
4:41749470	NM_003924.4(PHOX2B):c.325del (p.Gln109fs)	rs1733945703	Congenital central hypoventilation syndrome, with or without Hirschsprung disease	1476	Likely pathogenic
4:41749472	NM_003924.4(PHOX2B):c.323C>T (p.Ala108Val)	rs956551152	Haddad syndrome	1478	Uncertain significance
4:41749476	NM_003924.4(PHOX2B):c.319A>G (p.Ser107Gly)	rs762806075	Haddad syndrome	1482	Uncertain significance
4:41749480	NM_003924.4(PHOX2B):c.315C>T (p.Phe105=)	rs763804374	Haddad syndrome\|Hereditary cancer-predisposing syndrome	1486	Likely benign
4:41749486	NM_003924.4(PHOX2B):c.309C>G (p.Thr103=)	rs199611260	Haddad syndrome\|Hereditary cancer-predisposing syndrome	1492	Likely benign
4:41749489	NM_003924.4(PHOX2B):c.306C>T (p.Arg102=)	rs140002346	Haddad syndrome\|Hereditary cancer-predisposing syndrome	1495	Likely benign
4:41749489	NM_003924.4(PHOX2B):c.306C>G (p.Arg102=)	rs140002346	Haddad syndrome\|Hereditary cancer-predisposing syndrome	1495	Likely benign
4:41749491	NM_003924.4(PHOX2B):c.304C>T (p.Arg102Cys)	NA	not provided	1497	Uncertain significance
4:41749492	NM_003924.4(PHOX2B):c.303C>T (p.Ile101=)	NA	Haddad syndrome	1498	Likely benign
4:41749493	NM_003924.4(PHOX2B):c.302T>C (p.Ile101Thr)	rs1560466295	Haddad syndrome	1499	Uncertain significance
4:41749495	NM_003924.4(PHOX2B):c.300C>T (p.Arg100=)	NA	Haddad syndrome	1501	Likely benign
4:41749496	NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu)	rs104893855	Neuroblastoma, susceptibility to, 2\|Haddad syndrome	1502	Uncertain significance
4:41749496	NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu)	rs104893855	Neuroblastoma, susceptibility to, 2\|Haddad syndrome	1502	Uncertain significance
4:41749496	NM_003924.4(PHOX2B):c.299G>A (p.Arg100His)	rs104893855	not provided	1502	Uncertain significance
4:41749500	NM_003924.4(PHOX2B):c.295C>A (p.Arg99=)	rs1577560349	not provided\|Haddad syndrome	1506	Likely benign
4:41749502	NM_003924.4(PHOX2B):c.293A>G (p.Gln98Arg)	rs1577560359	Hereditary cancer-predisposing syndrome	1508	Uncertain significance
4:41749503	NM_003924.4(PHOX2B):c.292C>T (p.Gln98Ter)	rs1733947320	Congenital central hypoventilation	1509	Pathogenic
4:41749505	NM_003924.4(PHOX2B):c.290A>C (p.Lys97Thr)	rs1060501123	Haddad syndrome	1511	Uncertain significance
4:41749507	NM_003924.4(PHOX2B):c.288C>G (p.Arg96=)	rs201892150	not specified\|Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided	1513	Benign/Likely benign
4:41749507	NM_003924.4(PHOX2B):c.288C>G (p.Arg96=)	rs201892150	not specified\|Haddad syndrome\|Hereditary cancer-predisposing syndrome\|not provided	1513	Benign/Likely benign
4:41749509	NM_003924.4(PHOX2B):c.286C>G (p.Arg96Gly)	rs1450088667	Haddad syndrome	1515	Uncertain significance
4:41749509	NM_003924.4(PHOX2B):c.286C>A (p.Arg96Ser)	NA	Haddad syndrome	1515	Uncertain significance
4:41749516	NM_003924.4(PHOX2B):c.279C>G (p.Asn93Lys)	rs1459081022	Haddad syndrome	1522	Uncertain significance
4:41749520	NM_003924.4(PHOX2B):c.275T>C (p.Leu92Pro)	rs1477680896	Haddad syndrome	1526	Uncertain significance
4:41749525	NM_003924.4(PHOX2B):c.270C>T (p.Gly90=)	rs1420633452	Hereditary cancer-predisposing syndrome\|Haddad syndrome	1531	Conflicting interpretations of pathogenicity
4:41749525	NM_003924.4(PHOX2B):c.270C>G (p.Gly90=)	NA	Haddad syndrome	1531	Likely benign
4:41749530	NM_003924.4(PHOX2B):c.265C>T (p.His89Tyr)	NA	Haddad syndrome	1536	Uncertain significance
4:41749531	NM_003924.4(PHOX2B):c.264C>G (p.Asp88Glu)	rs1560466325	Haddad syndrome	1537	Uncertain significance
4:41749533	NM_003924.4(PHOX2B):c.262G>C (p.Asp88His)	NA	Haddad syndrome	1539	Uncertain significance
4:41749534	NM_003924.4(PHOX2B):c.261G>C (p.Thr87=)	rs996060917	not provided\|Haddad syndrome	1540	Likely benign
4:41749539	NM_003924.4(PHOX2B):c.256T>A (p.Phe86Ile)	NA	Haddad syndrome	1545	Uncertain significance
4:41749540	NM_003924.4(PHOX2B):c.255C>G (p.Leu85=)	rs1577560410	not provided\|Haddad syndrome	1546	Likely benign
4:41749542	NM_003924.4(PHOX2B):c.253C>T (p.Leu85Phe)	rs766200980	Haddad syndrome	1548	Uncertain significance
4:41749544	NM_003924.4(PHOX2B):c.251A>G (p.Lys84Arg)	rs1397909726	Haddad syndrome	1550	Uncertain significance
4:41749545	NM_003924.4(PHOX2B):c.250A>C (p.Lys84Gln)	NA	Haddad syndrome	1551	Uncertain significance
4:41749546	NM_003924.4(PHOX2B):c.249C>T (p.Tyr83=)	NA	Haddad syndrome	1552	Likely benign
4:41749548	NM_003924.4(PHOX2B):c.247T>C (p.Tyr83His)	NA	Haddad syndrome	1554	Uncertain significance
4:41749549	NM_003924.4(PHOX2B):c.246T>G (p.Pro82=)	NA	Haddad syndrome	1555	Likely benign
4:41749550	NM_003924.4(PHOX2B):c.245C>G (p.Pro82Arg)	rs1733949825	Haddad syndrome	1556	Uncertain significance
4:41749552	NM_003924.4(PHOX2B):c.243T>G (p.Val81=)	rs1312296810	not provided\|Haddad syndrome	1558	Likely benign
4:41749554	NM_003924.4(PHOX2B):c.242-5_242-2dup	rs1553898065	Haddad syndrome	1560	Uncertain significance
4:41749557	NM_003924.4(PHOX2B):c.242-4C>G	NA	Haddad syndrome	1563	Likely benign
4:41749560	NM_003924.4(PHOX2B):c.242-7A>G	rs1194493882	not provided\|Haddad syndrome	1566	Likely benign
4:41749561	NM_003924.4(PHOX2B):c.242-8T>C	NA	Haddad syndrome	1567	Likely benign
4:41749562	NM_003924.4(PHOX2B):c.242-9A>G	rs1283706591	Haddad syndrome	1568	Likely benign
4:41749566	NM_003924.4(PHOX2B):c.242-13T>C	NA	Haddad syndrome	1572	Likely benign
4:41749570	NM_003924.4(PHOX2B):c.242-17C>T	NA	Haddad syndrome	1576	Likely benign
4:41749573	NM_003924.4(PHOX2B):c.242-20T>C	NA	Haddad syndrome	1579	Likely benign
4:41749668	NM_003924.4(PHOX2B):c.242-115G>A	NA	not provided	1674	Benign
4:41750372	NM_003924.4(PHOX2B):c.241+15C>T	NA	Haddad syndrome	2378	Likely benign
4:41750378	NM_003924.4(PHOX2B):c.241+9C>T	rs1553898201	Haddad syndrome	2384	Likely benign
4:41750379	NM_003924.4(PHOX2B):c.241+8C>T	NA	Haddad syndrome	2385	Likely benign
4:41750381	NM_003924.4(PHOX2B):c.241+6G>T	rs776614949	Haddad syndrome	2387	Uncertain significance
4:41750381	NM_003924.4(PHOX2B):c.241+6G>C	NA	Haddad syndrome	2387	Uncertain significance
4:41750382	NM_003924.4(PHOX2B):c.241+5G>A	rs1733979107	Haddad syndrome	2388	Uncertain significance
4:41750386	NM_003924.4(PHOX2B):c.241+1G>A	NA	Haddad syndrome	2392	Likely pathogenic
4:41750388	NM_003924.4(PHOX2B):c.234_240del (p.Pro77_Tyr78insTer)	NA	Congenital central hypoventilation	2394	Pathogenic
4:41750390	NM_003924.4(PHOX2B):c.238G>T (p.Ala80Ser)	rs550472167	Haddad syndrome	2396	Uncertain significance
4:41750393	NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)	rs1733979302	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	2399	Uncertain significance
4:41750394	NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)	rs73810366	not specified\|Hereditary cancer-predisposing syndrome\|not provided\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	2400	Benign/Likely benign
4:41750394	NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)	rs73810366	not specified\|Hereditary cancer-predisposing syndrome\|not provided\|Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2\|Haddad syndrome	2400	Benign/Likely benign
4:41750394	NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)	rs73810366	Haddad syndrome\|Congenital central hypoventilation	2400	Pathogenic
4:41750397	NM_003924.4(PHOX2B):c.231G>T (p.Pro77=)	rs376060053	Haddad syndrome\|Hereditary cancer-predisposing syndrome	2403	Likely benign
4:41750397	NM_003924.4(PHOX2B):c.231G>A (p.Pro77=)	rs376060053	Haddad syndrome\|Hereditary cancer-predisposing syndrome	2403	Likely benign
4:41750401	NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)	rs532711949	Hereditary cancer-predisposing syndrome\|Haddad syndrome\|Neuroblastoma, susceptibility to, 2;Congenital central hypoventilation	2407	Uncertain significance
4:41750406	NM_003924.4(PHOX2B):c.222G>T (p.Gln74His)	rs1577561176	Hereditary cancer-predisposing syndrome	2412	Uncertain significance
4:41750408	NM_003924.4(PHOX2B):c.220C>T (p.Gln74Ter)	rs1297909281	Haddad syndrome	2414	Pathogenic
4:41750409	NM_003924.4(PHOX2B):c.219C>T (p.His73=)	rs1188377092	Hereditary cancer-predisposing syndrome\|Haddad syndrome	2415	Likely benign
4:41750412	NM_003924.4(PHOX2B):c.216C>G (p.Asp72Glu)	rs1733980273	Haddad syndrome	2418	Uncertain significance
4:41750414	NM_003924.4(PHOX2B):c.214G>A (p.Asp72Asn)	NA	Haddad syndrome	2420	Uncertain significance
4:41750420	NM_003924.4(PHOX2B):c.208C>T (p.Leu70Phe)	rs1242397056	Haddad syndrome	2426	Uncertain significance
4:41750422	NM_003924.4(PHOX2B):c.206C>A (p.Thr69Asn)	NA	Haddad syndrome	2428	Uncertain significance
4:41750424	NM_003924.4(PHOX2B):c.204C>A (p.Gly68=)	NA	Haddad syndrome	2430	Likely benign
4:41750434	NM_003924.4(PHOX2B):c.194G>A (p.Cys65Tyr)	NA	Haddad syndrome	2440	Uncertain significance
4:41750435	NM_003924.4(PHOX2B):c.193T>A (p.Cys65Ser)	rs1733981070	Haddad syndrome	2441	Uncertain significance
4:41750440	NM_003924.4(PHOX2B):c.188G>T (p.Gly63Val)	NA	Congenital central hypoventilation	2446	Uncertain significance
4:41750442	NM_003924.4(PHOX2B):c.186G>T (p.Pro62=)	rs763699416	Haddad syndrome	2448	Likely benign
4:41750442	NM_003924.4(PHOX2B):c.186G>A (p.Pro62=)	rs763699416	Haddad syndrome	2448	Uncertain significance
4:41750442	NM_003924.4(PHOX2B):c.186G>C (p.Pro62=)	NA	Haddad syndrome	2448	Likely benign
4:41750444	NM_003924.4(PHOX2B):c.184C>G (p.Pro62Ala)	rs1458869707	Haddad syndrome	2450	Uncertain significance
4:41750445	NM_003924.4(PHOX2B):c.183G>T (p.Thr61=)	NA	Haddad syndrome	2451	Likely benign
4:41750445	NM_003924.4(PHOX2B):c.183G>C (p.Thr61=)	NA	Haddad syndrome	2451	Likely benign
4:41750447	NM_003924.4(PHOX2B):c.181A>G (p.Thr61Ala)	rs1273459140	Haddad syndrome	2453	Uncertain significance
4:41750450	NM_003924.4(PHOX2B):c.178C>T (p.Leu60Phe)	NA	Haddad syndrome	2456	Uncertain significance
4:41750454	NM_003924.4(PHOX2B):c.174T>G (p.Pro58=)	rs1577561219	not provided\|Haddad syndrome	2460	Likely benign
4:41750456	NM_003924.4(PHOX2B):c.172C>T (p.Pro58Ser)	rs774739194	Haddad syndrome	2462	Uncertain significance
4:41750458	NM_003924.4(PHOX2B):c.170G>A (p.Cys57Tyr)	rs1553898212	Haddad syndrome	2464	Uncertain significance
4:41750461	NM_003924.4(PHOX2B):c.167G>T (p.Gly56Val)	rs1733982125	Haddad syndrome	2467	Uncertain significance
4:41750462	NM_003924.4(PHOX2B):c.166G>A (p.Gly56Ser)	NA	not provided	2468	Uncertain significance
4:41750463	NM_003924.4(PHOX2B):c.165C>T (p.Ser55=)	rs762144117	Haddad syndrome	2469	Likely benign
4:41750463	NM_003924.4(PHOX2B):c.165C>A (p.Ser55=)	rs762144117	not provided\|Haddad syndrome	2469	Likely benign
4:41750465	NM_003924.4(PHOX2B):c.163T>C (p.Ser55Pro)	rs1733982336	Haddad syndrome	2471	Uncertain significance
4:41750466	NM_003924.4(PHOX2B):c.162G>C (p.Thr54=)	rs1262122327	not provided\|Haddad syndrome	2472	Likely benign
4:41750466	NM_003924.4(PHOX2B):c.162G>T (p.Thr54=)	NA	Haddad syndrome	2472	Likely benign
4:41750466	NM_003924.4(PHOX2B):c.162G>A (p.Thr54=)	NA	Haddad syndrome	2472	Likely benign
4:41750469	NM_003924.4(PHOX2B):c.159C>G (p.Ala53=)	NA	Haddad syndrome	2475	Likely benign
4:41750470	NM_003924.4(PHOX2B):c.158C>T (p.Ala53Val)	rs1488529123	Haddad syndrome	2476	Uncertain significance
4:41750470	NM_003924.4(PHOX2B):c.158C>A (p.Ala53Asp)	NA	Haddad syndrome	2476	Uncertain significance
4:41750471	NM_003924.4(PHOX2B):c.157G>T (p.Ala53Ser)	rs1733982922	Congenital central hypoventilation	2477	Uncertain significance
4:41750472	NM_003924.4(PHOX2B):c.156G>T (p.Gly52=)	rs1577561242	not provided\|Haddad syndrome	2478	Likely benign
4:41750475	NM_003924.4(PHOX2B):c.153T>C (p.Phe51=)	rs1012348354	not provided\|Haddad syndrome	2481	Likely benign
4:41750481	NM_003924.4(PHOX2B):c.147C>A (p.Thr49=)	NA	Haddad syndrome	2487	Likely benign
4:41750482	NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)	rs559227588	Haddad syndrome\|Hereditary cancer-predisposing syndrome	2488	Uncertain significance
4:41750483	NM_003924.4(PHOX2B):c.145A>G (p.Thr49Ala)	NA	Haddad syndrome	2489	Uncertain significance
4:41750485	NM_003924.4(PHOX2B):c.143G>A (p.Arg48Lys)	rs1733983472	Haddad syndrome	2491	Uncertain significance
4:41750487	NM_003924.4(PHOX2B):c.141A>G (p.Ile47Met)	rs1577561264	Hereditary cancer-predisposing syndrome\|Haddad syndrome	2493	Uncertain significance
4:41750490	NM_003924.4(PHOX2B):c.138G>A (p.Pro46=)	rs1486629336	Haddad syndrome	2496	Likely benign
4:41750490	NM_003924.4(PHOX2B):c.138G>T (p.Pro46=)	rs1486629336	Hereditary cancer-predisposing syndrome\|Haddad syndrome	2496	Likely benign
4:41750490	NM_003924.4(PHOX2B):c.138G>C (p.Pro46=)	NA	Haddad syndrome	2496	Likely benign
4:41750491	NM_003924.4(PHOX2B):c.137C>A (p.Pro46Gln)	rs1381435898	Hereditary cancer-predisposing syndrome\|Haddad syndrome	2497	Uncertain significance
4:41750491	NM_003924.4(PHOX2B):c.137C>G (p.Pro46Arg)	NA	Haddad syndrome	2497	Uncertain significance
4:41750492	NM_003924.4(PHOX2B):c.136C>T (p.Pro46Ser)	rs1553898221	Haddad syndrome	2498	Uncertain significance
4:41750493	NM_003924.4(PHOX2B):c.135C>T (p.Asn45=)	rs878854616	Haddad syndrome	2499	Likely benign
4:41750493	NM_003924.4(PHOX2B):c.135C>T (p.Asn45=)	rs878854616	Haddad syndrome	2499	Likely benign
4:41750499	NM_003924.4(PHOX2B):c.129G>C (p.Gln43His)	NA	Haddad syndrome	2505	Uncertain significance
4:41750503	NM_003924.4(PHOX2B):c.125T>G (p.Phe42Cys)	rs1733984320	Haddad syndrome	2509	Uncertain significance
4:41750508	NM_003924.4(PHOX2B):c.120T>C (p.Ser40=)	rs756519209	Haddad syndrome\|Hereditary cancer-predisposing syndrome	2514	Likely benign
4:41750511	NM_003924.4(PHOX2B):c.117C>T (p.Ala39=)	NA	Haddad syndrome	2517	Likely benign
4:41750514	NM_003924.4(PHOX2B):c.114G>A (p.Gln38=)	rs766500239	not provided\|Haddad syndrome	2520	Likely benign
4:41750517	NM_003924.4(PHOX2B):c.111C>T (p.Ser37=)	rs374160638	not provided\|Haddad syndrome	2523	Likely benign
4:41750522	NM_003924.4(PHOX2B):c.106T>G (p.Cys36Gly)	rs1733985004	Haddad syndrome	2528	Uncertain significance
4:41750523	NM_003924.4(PHOX2B):c.95_105del (p.Asp32fs)	rs1733985177	not provided	2529	Pathogenic
4:41750528	NM_003924.4(PHOX2B):c.100A>G (p.Ser34Gly)	NA	Haddad syndrome	2534	Uncertain significance
4:41750529	NM_003924.4(PHOX2B):c.99C>T (p.Phe33=)	NA	Haddad syndrome	2535	Likely benign
4:41750536	NM_003924.4(PHOX2B):c.92C>G (p.Ala31Gly)	NA	Haddad syndrome	2542	Uncertain significance
4:41750537	NM_003924.4(PHOX2B):c.91G>A (p.Ala31Thr)	NA	Haddad syndrome	2543	Uncertain significance
4:41750539	NM_003924.4(PHOX2B):c.89A>T (p.Tyr30Phe)	NA	Haddad syndrome	2545	Uncertain significance
4:41750540	NM_003924.4(PHOX2B):c.88T>G (p.Tyr30Asp)	rs1060501122	Haddad syndrome	2546	Uncertain significance
4:41750541	NM_003924.4(PHOX2B):c.87C>A (p.Ala29=)	rs1336670718	Haddad syndrome	2547	Likely benign
4:41750544	NM_003924.4(PHOX2B):c.84A>G (p.Ser28=)	NA	Haddad syndrome	2550	Likely benign
4:41750550	NM_003924.4(PHOX2B):c.78G>A (p.Leu26=)	NA	Haddad syndrome\|not provided	2556	Conflicting interpretations of pathogenicity
4:41750552	NM_003924.4(PHOX2B):c.76C>G (p.Leu26Val)	NA	Haddad syndrome	2558	Uncertain significance
4:41750553	NM_003924.4(PHOX2B):c.75C>A (p.Ser25Arg)	rs1733986571	Haddad syndrome	2559	Uncertain significance
4:41750554	NM_003924.4(PHOX2B):c.74G>C (p.Ser25Thr)	NA	Haddad syndrome	2560	Uncertain significance
4:41750556	NM_003924.4(PHOX2B):c.72G>A (p.Ser24=)	NA	Haddad syndrome	2562	Likely benign
4:41750557	NM_003924.4(PHOX2B):c.71C>G (p.Ser24Trp)	rs1577561345	Hereditary cancer-predisposing syndrome	2563	Uncertain significance
4:41750558	NM_003924.4(PHOX2B):c.70T>C (p.Ser24Pro)	rs200971068	Haddad syndrome	2564	Likely benign
4:41750559	NM_003924.4(PHOX2B):c.69C>G (p.Thr23=)	NA	Haddad syndrome	2565	Likely benign
4:41750560	NM_003924.4(PHOX2B):c.68C>G (p.Thr23Ser)	rs1389889634	Haddad syndrome	2566	Uncertain significance
4:41750562	NM_003924.4(PHOX2B):c.66C>T (p.Asp22_Thr23=)	NA	Hereditary cancer-predisposing syndrome	2568	Uncertain significance
4:41750567	NM_003924.4(PHOX2B):c.61A>C (p.Met21Leu)	rs780786684	Haddad syndrome	2573	Uncertain significance
4:41750569	NM_003924.4(PHOX2B):c.59G>C (p.Gly20Ala)	rs587778605	not specified\|Haddad syndrome	2575	Uncertain significance
4:41750569	NM_003924.4(PHOX2B):c.59G>C (p.Gly20Ala)	rs587778605	not specified\|Haddad syndrome	2575	Uncertain significance
4:41750572	NM_003924.4(PHOX2B):c.56C>G (p.Ala19Gly)	rs1353983410	Haddad syndrome	2578	Uncertain significance
4:41750574	NM_003924.4(PHOX2B):c.54G>A (p.Met18Ile)	NA	Haddad syndrome	2580	Uncertain significance
4:41750576	NM_003924.4(PHOX2B):c.52A>G (p.Met18Val)	rs968453180	Haddad syndrome	2582	Uncertain significance
4:41750577	NM_003924.4(PHOX2B):c.51T>C (p.Cys17=)	rs1577561406	not provided\|Haddad syndrome	2583	Likely benign
4:41750580	NM_003924.4(PHOX2B):c.48C>T (p.Ser16=)	rs1383504578	Haddad syndrome	2586	Likely benign
4:41750583	NM_003924.4(PHOX2B):c.45G>A (p.Glu15=)	NA	Haddad syndrome	2589	Likely benign
4:41750586	NM_003924.4(PHOX2B):c.42C>T (p.Tyr14=)	NA	Haddad syndrome\|Hereditary cancer-predisposing syndrome	2592	Conflicting interpretations of pathogenicity
4:41750589	NM_003924.4(PHOX2B):c.39C>T (p.Ala13=)	rs748767112	Haddad syndrome	2595	Likely benign
4:41750592	NM_003924.4(PHOX2B):c.36T>G (p.Ser12=)	rs1577561434	not provided\|Haddad syndrome	2598	Likely benign
4:41750595	NM_003924.4(PHOX2B):c.33C>T (p.Ser11=)	rs773982008	Haddad syndrome\|Hereditary cancer-predisposing syndrome	2601	Likely benign
4:41750599	NM_003924.4(PHOX2B):c.29A>G (p.Asn10Ser)	NA	Haddad syndrome	2605	Uncertain significance
4:41750602	NM_003924.4(PHOX2B):c.26T>A (p.Leu9His)	NA	Haddad syndrome	2608	Uncertain significance
4:41750604	NM_003924.4(PHOX2B):c.24C>T (p.Tyr8=)	rs1577561446	Hereditary cancer-predisposing syndrome	2610	Likely benign
4:41750611	NM_003924.4(PHOX2B):c.17A>G (p.Tyr6Cys)	NA	Haddad syndrome	2617	Uncertain significance
4:41750615	NM_003924.4(PHOX2B):c.13G>T (p.Glu5Ter)	NA	Haddad syndrome	2621	Pathogenic
4:41750617	NM_003924.4(PHOX2B):c.11T>G (p.Met4Arg)	rs1553898240	Haddad syndrome	2623	Uncertain significance
4:41750619	NM_003924.4(PHOX2B):c.9A>G (p.Lys3=)	rs1733989492	Haddad syndrome	2625	Uncertain significance
4:41750621	NM_003924.4(PHOX2B):c.7A>C (p.Lys3Gln)	NA	Haddad syndrome	2627	Uncertain significance
4:41750623	NM_003924.4(PHOX2B):c.5A>G (p.Tyr2Cys)	NA	Haddad syndrome	2629	Uncertain significance
4:41750732	NM_003924.4(PHOX2B):c.-105G>A	rs538445545	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	2738	Uncertain significance
4:41750786	NM_003924.3(PHOX2B):c.-159C>T	rs887117495	Neuroblastoma, susceptibility to, 2\|Congenital central hypoventilation	2792	Uncertain significance
4:41750822	NM_003924.3(PHOX2B):c.-195G>A	rs775569375	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	2828	Uncertain significance
4:41750837	NM_003924.3(PHOX2B):c.-210C>A	rs886059414	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	2843	Uncertain significance
4:41750892	NM_003924.3(PHOX2B):c.-265G>A	rs886059415	Congenital central hypoventilation\|Neuroblastoma, susceptibility to, 2	2898	Uncertain significance
4:41751211	Single allele	NA	not provided	3217	Benign
4:41751323	Single allele	NA	not provided	3329	Benign

Position	Population	BlockLength (kb)	Distance	Location with respect to STR	No. of SNPs	SNPs in the Haploblock
4:41699387-41700217	EUR	0.831	-48607	downstream	3	rs569294141, rs7674006, rs11542117,
4:41699821-41700107	AFR	0.287	-48173	downstream	2	rs56688481, rs767400,
4:41700277-41700361	AFR	0.085	-47717	downstream	2	rs17590376, rs106156,
4:41700277-41700361	all_pop	0.085	-47717	downstream	2	rs17590376, rs106156,
4:41701010-41705961	EUR	4.952	-46984	downstream	18	rs1064973, rs200583022, rs76405436, rs371782469, rs1062144, rs1020134, rs2018585, rs2018602, rs1020137, rs112441751, rs17529225, rs1020138, rs116720816, rs35135159, rs78153907, rs34916134, rs10014520, rs14574833,
4:41701247-41701248	AFR	0.002	-46747	downstream	2	rs76961450, rs7640543,
4:41701247-41701248	all_pop	0.002	-46747	downstream	2	rs76961450, rs7640543,
4:41701247-41701248	AMR	0.002	-46747	downstream	2	rs76961450, rs7640543,
4:41701833-41705958	all_pop	4.126	-46161	downstream	11	rs1062144, rs1020134, rs2018585, rs2018602, rs1020137, rs1020138, rs16853519, rs75124086, rs35135159, rs78153907, rs3491613,
4:41701833-41705958	AMR	4.126	-46161	downstream	11	rs1062144, rs1020134, rs2018585, rs2018602, rs1020137, rs112441751, rs1020138, rs75124086, rs35135159, rs78153907, rs3491613,
4:41702284-41706760	AFR	4.477	-45710	downstream	22	rs1020134, rs2018585, rs146566339, rs2018602, rs1020137, rs6846595, rs143751111, rs140598636, rs1020138, rs16853517, rs73813416, rs143306827, rs73813417, rs16853519, rs6854491, rs75124086, rs35135159, rs78153907, rs34916134, rs10014520, rs35364695, rs1264755,
4:41705940-41705958	SAS	0.019	-42054	downstream	3	rs35135159, rs78153907, rs3491613,
4:41705958-41707602	EAS	1.645	-42036	downstream	5	rs34916134, rs35364695, rs12647558, rs12650313, rs454627,
4:41705959-41706760	all_pop	0.802	-42035	downstream	3	rs10014520, rs35364695, rs1264755,
4:41705961-41707602	SAS	1.642	-42033	downstream	3	rs145748336, rs12650313, rs454627,
4:41706678-41707981	AMR	1.304	-41316	downstream	5	rs35364695, rs12647558, rs12650313, rs4546279, rs7483522,
4:41707093-41707590	AFR	0.498	-40901	downstream	2	rs12650313, rs13802469,
4:41707093-41707602	all_pop	0.51	-40901	downstream	2	rs12650313, rs454627,
4:41707093-41710035	EUR	2.943	-40901	downstream	10	rs12650313, rs4546279, rs144103102, rs142018768, rs151243243, rs146769050, rs201713100, rs6447107, rs6857635, rs143947,
4:41707602-41708932	AFR	1.331	-40392	downstream	7	rs4546279, rs74835226, rs144103102, rs142018768, rs151243243, rs146769050, rs14116010,
4:41708657-41708666	all_pop	0.01	-39337	downstream	4	rs144103102, rs142018768, rs151243243, rs14676905,
4:41708657-41708666	AMR	0.01	-39337	downstream	4	rs144103102, rs142018768, rs151243243, rs14676905,
4:41708657-41708666	EAS	0.01	-39337	downstream	4	rs144103102, rs142018768, rs151243243, rs14676905,
4:41708657-41708666	SAS	0.01	-39337	downstream	4	rs144103102, rs142018768, rs151243243, rs14676905,
4:41708727-41710374	SAS	1.648	-39267	downstream	5	rs201713100, rs6447107, rs6857635, rs1439470, rs1744478,
4:41709351-41710035	all_pop	0.685	-38643	downstream	3	rs6447107, rs6857635, rs143947,
4:41709351-41710035	AMR	0.685	-38643	downstream	3	rs6447107, rs6857635, rs143947,
4:41709351-41710035	EAS	0.685	-38643	downstream	2	rs6447107, rs143947,
4:41709894-41710035	AFR	0.142	-38100	downstream	2	rs28733435, rs143947,
4:41710551-41710577	EAS	0.027	-37443	downstream	2	rs13107434, rs143947,
4:41710551-41710577	EUR	0.027	-37443	downstream	2	rs13107434, rs143947,
4:41710551-41710577	SAS	0.027	-37443	downstream	2	rs13107434, rs143947,
4:41710577-41710578	AFR	0.002	-37417	downstream	2	rs1439471, rs1002331,
4:41711258-41711297	SAS	0.04	-36736	downstream	2	rs1371298, rs7127652,
4:41711297-41712362	AFR	1.066	-36697	downstream	8	rs71276529, rs1371299, rs1371300, rs6817913, rs6823379, rs73139260, rs76366783, rs14372063,
4:41711297-41711862	all_pop	0.566	-36697	downstream	5	rs71276529, rs1371299, rs1371300, rs6817913, rs682337,
4:41711297-41711862	AMR	0.566	-36697	downstream	6	rs71276529, rs141922593, rs1371299, rs1371300, rs6817913, rs682337,
4:41711297-41713223	EAS	1.927	-36697	downstream	8	rs71276529, rs1371299, rs1371300, rs6817913, rs6823379, rs6847601, rs10022104, rs683053,
4:41711463-41711689	EUR	0.227	-36531	downstream	3	rs1371299, rs1371300, rs681791,
4:41711463-41711862	SAS	0.4	-36531	downstream	4	rs1371299, rs1371300, rs6817913, rs682337,
4:41711862-41713665	EUR	1.804	-36132	downstream	8	rs6823379, rs73139260, rs76366783, rs143720633, rs6847601, rs28737201, rs10022104, rs1172892,
4:41712018-41712445	all_pop	0.428	-35976	downstream	4	rs76366783, rs143720633, rs6847601, rs2873720,
4:41712445-41712818	AFR	0.374	-35549	downstream	2	rs28737201, rs1002210,
4:41713223-41718139	AFR	4.917	-34771	downstream	23	rs6830539, rs11728925, rs73139263, rs9990806, rs146281797, rs10014254, rs4861003, rs1371301, rs111321976, rs11731093, rs13110971, rs13109630, rs28601868, rs33996934, rs6819919, rs6845146, rs9994299, rs10028854, rs6818865, rs6820486, rs6447108, rs115191653, rs204390,
4:41713223-41714558	all_pop	1.336	-34771	downstream	7	rs6830539, rs11728925, rs62410259, rs73139263, rs9990806, rs146281797, rs486100,
4:41713671-41718139	AMR	4.469	-34323	downstream	20	rs62410259, rs73139263, rs9990806, rs146281797, rs4861003, rs1371301, rs111321976, rs11731093, rs13110971, rs13109630, rs28601868, rs33996934, rs6819919, rs6845146, rs9994299, rs10028854, rs6818865, rs6820486, rs6447108, rs204390,
4:41713671-41714187	EUR	0.517	-34323	downstream	2	rs62410259, rs7313926,
4:41713671-41718139	SAS	4.469	-34323	downstream	17	rs62410259, rs73139263, rs9990806, rs146281797, rs4861003, rs1371301, rs111321976, rs11731093, rs13110971, rs13109630, rs33996934, rs6819919, rs6845146, rs6818865, rs6820486, rs6447108, rs204390,
4:41714627-41726813	EAS	12.187	-33367	downstream	25	rs1371301, rs11731093, rs13110971, rs13109630, rs33996934, rs6819919, rs6845146, rs6818865, rs6820486, rs6447108, rs77377507, rs5857813, rs12108568, rs28579515, esv3600339, rs6858720, rs12108218, rs13109206, rs76467791, rs34600942, rs1975372, rs35078948, rs112289668, rs2012305, rs486113,
4:41715222-41718139	all_pop	2.918	-32772	downstream	12	rs13110971, rs13109630, rs28601868, rs33996934, rs6819919, rs6845146, rs9994299, rs10028854, rs6818865, rs6820486, rs6447108, rs204390,
4:41715222-41723157	EUR	7.936	-32772	downstream	22	rs13110971, rs13109630, rs28601868, rs33996934, rs6819919, rs6845146, rs9994299, rs10028854, rs6818865, rs6820486, rs6447108, rs2043905, rs5857813, rs12108568, rs6858720, rs13141130, rs12108218, rs13109206, rs11722563, rs76467791, rs34600942, rs1172203,
4:41719006-41720355	all_pop	1.35	-28988	downstream	6	rs12108568, rs28579515, rs6858720, rs13141130, rs12108218, rs1310920,
4:41719006-41727156	AMR	8.151	-28988	downstream	19	rs12108568, rs6858720, rs13141130, rs12108218, rs13109206, rs11722563, rs76467791, rs34600942, rs11722038, rs6447109, rs1975372, rs6843846, rs35078948, rs1985012, rs2012305, rs4861131, rs12503028, rs7679070, rs768902,
4:41719006-41725443	SAS	6.438	-28988	downstream	10	rs12108568, rs6858720, rs12108218, rs13109206, rs76467791, rs34600942, rs6447109, rs1975372, rs6843846, rs3507894,
4:41719261-41730633	AFR	11.373	-28733	downstream	31	rs28579515, esv3600339, rs6858720, rs13141130, rs12108218, rs13109206, rs11722563, rs76467791, rs34600942, rs11722038, rs6447109, rs1975372, rs28619223, rs6843846, rs35078948, rs112289668, rs1985012, rs2012305, rs4861131, rs7679070, rs7689022, rs73139282, rs7684227, rs961395, rs961396, rs79639912, rs5857814, rs34039289, rs11933711, rs7674387, rs767480,
4:41720992-41730976	all_pop	9.985	-27002	downstream	24	rs11722563, rs76467791, rs34600942, rs11722038, rs6447109, rs1975372, rs6843846, rs35078948, rs112289668, rs1985012, rs2012305, rs4861131, rs12503028, rs7679070, rs7689022, rs7684227, rs961395, rs961396, rs79639912, rs5857814, rs34039289, rs11933711, rs7674387, rs1685355,
4:41724288-41724476	EUR	0.189	-23706	downstream	2	rs1975372, rs684384,
4:41725443-41726061	EUR	0.619	-22551	downstream	2	rs35078948, rs11228966,
4:41726061-41742961	SAS	16.901	-21933	downstream	40	rs112289668, rs1985012, rs2012305, rs4861131, rs7689022, rs79639912, rs34039289, rs11933711, rs16853557, rs4861004, rs4861132, rs17444879, rs1561500, rs35686085, rs4861005, rs4861133, rs11731281, rs11731284, rs11727016, rs11733037, rs28406737, rs17444900, rs371426356, rs7675078, rs7691898, rs6850846, rs28645306, rs28378689, rs28491678, rs28378786, rs10020185, rs9998507, rs533475060, rs4861134, rs4861135, rs4861136, rs79013541, rs79981059, rs7690142, rs768930,
4:41726148-41739760	EUR	13.613	-21846	downstream	37	rs1985012, rs2012305, rs4861131, rs7689022, rs77626772, rs79639912, rs34039289, rs11933711, rs16853557, rs13139827, rs17529323, rs4861004, rs4861132, rs17444879, rs1561500, rs35686085, rs4861005, rs4861133, rs11731281, rs11731284, rs11727016, rs11733037, rs28406737, rs17444900, rs371426356, rs7675078, rs10008723, rs7691898, rs6850846, rs28645306, rs28378689, rs28391837, rs28491678, rs28665034, rs28378786, rs10020185, rs999850,
4:41726834-41790075	EAS	63.242	-21160	downstream	145	rs12503028, rs7679070, rs7689022, rs7684227, rs961395, rs961396, rs79639912, rs5857814, rs34039289, rs11933711, rs7674387, rs16853557, rs60684224, rs4861132, rs17444879, rs74825261, rs73810336, rs11733037, rs17444900, rs115265429, rs6850846, rs28645306, rs28378689, rs28491678, rs10020185, rs9998507, rs533475060, rs4861136, rs79013541, rs55823744, rs79981059, rs75697939, rs77319293, rs966925, rs7689304, rs73139108, rs73139112, rs11723860, rs6826373, rs3833622, rs17884724, rs2196822, rs3038692, rs28647582, rs6811325, rs4608840, rs72266779, rs60302516, rs3834808, rs113662603, rs80279917, rs75962913, rs34678285, rs58214547, rs59265599, rs9654074, rs60002268, rs199737964, rs4861139, rs13109622, rs7668748, rs74411517, rs1013586, rs6832595, rs4861141, rs4861009, rs11935118, rs75894504, rs77460846, rs79401046, rs79803520, rs1961506, rs1122992, rs6852737, rs997351, rs1946872, rs11729701, rs2028331, rs6447111, rs7655885, rs79127770, rs17529372, rs6819286, rs6842806, rs59894355, rs6820104, rs76147779, rs11732187, rs60881980, rs6831893, rs11730903, rs6819629, rs1347906, rs6832183, rs6447112, rs60227830, rs60149523, rs6447113, rs1439475, rs1439474, rs57258710, rs34512517, rs369514130, rs10938158, rs74912821, rs115668082, rs58804451, rs77494556, rs10028970, rs77812958, rs76085873, rs77311203, rs78135675, rs4861143, rs74517738, rs1371303, rs1371304, rs1866522, rs16853601, rs1866523, rs7659516, rs11441078, rs7661698, rs7665220, rs1009162, rs1009163, rs10002758, rs34662826, rs1371308, rs1371309, rs76501571, rs76284483, rs10712266, rs7676176, rs10712265, rs74994709, rs5857817, rs77612607, rs1540499, rs78547893, rs11931088, rs76313154, rs4861145, rs79283575, rs143948,
4:41728601-41730336	AMR	1.736	-19393	downstream	7	rs961395, rs961396, rs79639912, rs5857814, rs34039289, rs11933711, rs767438,
4:41730976-41736923	AMR	5.948	-17018	downstream	14	rs16853557, rs13139827, rs17529323, rs60684224, rs4861004, rs4861132, rs17444879, rs1561500, rs35686085, rs4861005, rs4861133, rs11731281, rs11731284, rs1172701,
4:41732911-41735618	AFR	2.708	-15083	downstream	7	rs13139827, rs17529323, rs4861004, rs4861132, rs17444879, rs1561500, rs3568608,
4:41732911-41735618	all_pop	2.708	-15083	downstream	8	rs13139827, rs17529323, rs60684224, rs4861004, rs4861132, rs17444879, rs1561500, rs3568608,
4:41735980-41738386	AFR	2.407	-12014	downstream	16	rs4861005, rs4861133, rs74825261, rs73810336, rs11731281, rs11731284, rs11727016, rs11733037, rs28406737, rs17444900, rs16853567, rs371426356, rs7675078, rs10008723, rs7691898, rs11526542,
4:41735980-41739760	all_pop	3.781	-12014	downstream	23	rs4861005, rs4861133, rs74825261, rs73810336, rs11731281, rs11731284, rs11727016, rs11733037, rs28406737, rs17444900, rs371426356, rs7675078, rs10008723, rs7691898, rs6850846, rs28645306, rs28378689, rs28391837, rs28491678, rs28665034, rs28378786, rs10020185, rs999850,
4:41737157-41739760	AMR	2.604	-10837	downstream	15	rs28406737, rs17444900, rs371426356, rs7675078, rs10008723, rs7691898, rs6850846, rs28645306, rs28378689, rs28391837, rs28491678, rs28665034, rs28378786, rs10020185, rs999850,
4:41738817-41739760	AFR	0.944	-9177	downstream	8	rs28645306, rs28378689, rs28391837, rs28491678, rs28665034, rs28378786, rs10020185, rs999850,
4:41740375-41743502	AFR	3.128	-7619	downstream	13	rs4861134, rs4861135, rs4861136, rs79013541, rs55823744, rs79981059, rs75697939, rs77319293, rs966925, rs7690142, rs7690463, rs7689304, rs486100,
4:41740375-41742722	all_pop	2.348	-7619	downstream	9	rs4861134, rs4861135, rs4861136, rs79013541, rs55823744, rs79981059, rs77319293, rs966925, rs769014,
4:41740375-41743502	AMR	3.128	-7619	downstream	8	rs4861134, rs4861135, rs4861136, rs79013541, rs79981059, rs7690142, rs7689304, rs486100,
4:41740375-41743502	EUR	3.128	-7619	downstream	8	rs4861134, rs4861135, rs4861136, rs79013541, rs79981059, rs7690142, rs7689304, rs486100,
4:41742961-41745692	all_pop	2.732	-5033	downstream	6	rs7689304, rs4861007, rs73139108, rs73139112, rs6813174, rs766185,
4:41744351-41745238	AFR	0.888	-3643	downstream	4	rs73139108, rs73139112, rs6813174, rs7313911,
4:41744633-41755990	AMR	11.358	-3361	downstream	19	rs6813174, rs7661854, rs11723860, rs6826373, rs62412180, rs3833622, rs2196822, rs3038692, rs28647582, rs6811325, rs4608840, rs72266779, rs28462174, rs16853571, rs16853575, rs113662603, rs13130379, rs62412181, rs3578323,
4:41744633-41749938	EUR	5.306	-3361	downstream	12	rs6813174, rs7661854, rs1063611, rs11723860, rs6826373, rs62412180, rs3833622, rs2196822, rs3038692, rs28647582, rs6811325, rs460884,
4:41744633-41749938	SAS	5.306	-3361	downstream	11	rs6813174, rs7661854, rs11723860, rs6826373, rs62412180, rs3833622, rs2196822, rs3038692, rs28647582, rs6811325, rs460884,
4:41745692-41751323	AFR	5.632	-2302	downstream	15	rs7661854, rs11723860, rs6826373, rs3833622, rs73139116, rs17885864, rs17884724, rs2196822, rs3038692, rs28647582, rs6811325, rs4608840, rs72266779, rs28462174, rs2872747,
4:41746437-41747149	all_pop	0.713	-1557	downstream	4	rs11723860, rs6826373, rs62412180, rs383362,
4:41748511-41754457	all_pop	5.947	517	upstream	14	rs2196822, rs3038692, rs28647582, rs6811325, rs4608840, rs72266779, rs28462174, rs28727473, rs16853571, rs16853575, rs113662603, rs13130379, rs11726086, rs6241218,
4:41749970-41785349	EUR	35.38	1976	upstream	125	rs72266779, rs28462174, rs28727473, rs16853571, rs16853575, rs113662603, rs13130379, rs11726086, rs62412181, rs35783236, rs34678285, rs34769413, rs6447110, rs59265599, rs9654074, rs60002268, rs199737964, rs4861139, rs13109622, rs77083780, rs9283670, rs9994832, rs13135739, rs7668748, rs1013586, rs11351633, rs4861140, rs10000463, rs566094122, rs6851007, rs6832595, rs4861141, rs4861009, rs10011250, rs11935118, rs75894504, rs77460846, rs79401046, rs71608086, rs4861142, rs1961506, rs1122992, rs1004503, rs6852737, rs997351, rs1946872, rs11729701, rs2028331, rs55710242, rs6447111, rs10938156, rs10938157, rs7655885, rs34287464, rs980523, rs79127770, rs17529372, rs13116296, rs6819286, rs6842806, rs6820104, rs60878849, rs11732187, rs60881980, rs28417750, rs6831893, rs11730903, rs34677848, rs34668549, rs6819629, rs11932740, rs1347906, rs78332833, rs6832183, rs6447112, rs13101747, rs6447113, rs34611982, rs1439475, rs1439474, rs57258710, rs6823022, rs10028962, rs34512517, rs369514130, rs10021404, rs10938158, rs10032144, rs10024527, rs67336008, rs2880606, rs5020056, rs976277, rs976275, rs77494556, rs35262730, rs10049550, rs10028970, rs10050332, rs2343334, rs6850850, rs4861143, rs1371303, rs1371304, rs10013039, rs1866522, rs1866523, rs13135354, rs7659516, rs11441078, rs4861144, rs7661698, rs7665220, rs10019220, rs1009162, rs1009163, rs36013106, rs9999953, rs10002758, rs34662826, rs71650945, rs28622137, rs1371308, rs1371309, rs1071226,
4:41749970-41788684	SAS	38.715	1976	upstream	127	rs72266779, rs16853571, rs16853575, rs113662603, rs13130379, rs62412181, rs35783236, rs34678285, rs34769413, rs6447110, rs59265599, rs9654074, rs60002268, rs199737964, rs4861139, rs13109622, rs9283670, rs9994832, rs13135739, rs7668748, rs1013586, rs11351633, rs4861140, rs10000463, rs6851007, rs6832595, rs4861141, rs4861009, rs10011250, rs11935118, rs75894504, rs77460846, rs79401046, rs71608086, rs4861142, rs1961506, rs1122992, rs1004503, rs6852737, rs997351, rs1946872, rs11729701, rs2028331, rs55710242, rs6447111, rs10938157, rs7655885, rs34287464, rs980523, rs79127770, rs17529372, rs13116296, rs6819286, rs6842806, rs6820104, rs60878849, rs11732187, rs60881980, rs28417750, rs6831893, rs11730903, rs34677848, rs34668549, rs6819629, rs11932740, rs1347906, rs6832183, rs6447112, rs13101747, rs6447113, rs34611982, rs1439475, rs1439474, rs57258710, rs6823022, rs10028962, rs34512517, rs369514130, rs10021404, rs10938158, rs10032144, rs10024527, rs67336008, rs2880606, rs5020056, rs976277, rs976275, rs112391191, rs77494556, rs35262730, rs10049550, rs10028970, rs10050332, rs2343334, rs6850850, rs4861143, rs1371303, rs1371304, rs10013039, rs1866522, rs1866523, rs13135354, rs7659516, rs11441078, rs4861144, rs7661698, rs7665220, rs10019220, rs1009162, rs1009163, rs36013106, rs9999953, rs10002758, rs34662826, rs71650945, rs28622137, rs1371308, rs1371309, rs10712266, rs371398114, rs13120330, rs7676176, rs10712265, rs5857817, rs1540499, rs11931088, rs7631315,
4:41753130-41755990	AFR	2.861	5136	upstream	8	rs16853571, rs3834808, rs16853575, rs113662603, rs13130379, rs80279917, rs11726086, rs3578323,
4:41756265-41757427	AFR	1.163	8271	upstream	6	rs34769413, rs6447110, rs58214547, rs59265599, rs9654074, rs6000226,
4:41756265-41760431	all_pop	4.167	8271	upstream	13	rs34769413, rs6447110, rs59265599, rs9654074, rs60002268, rs199737964, rs4861139, rs13109622, rs9283670, rs9994832, rs13135739, rs7668748, rs101358,
4:41756265-41759618	AMR	3.354	8271	upstream	10	rs34769413, rs6447110, rs59265599, rs9654074, rs60002268, rs199737964, rs4861139, rs13109622, rs9283670, rs999483,
4:41757443-41760542	AFR	3.1	9449	upstream	13	rs199737964, rs80142162, rs4861139, rs13109622, rs75414817, rs9283670, rs77566255, rs9994832, rs13135739, rs7668748, rs74411517, rs1013586, rs1135163,
4:41759836-41778973	AMR	19.138	11842	upstream	78	rs13135739, rs7668748, rs1013586, rs11351633, rs4861140, rs10000463, rs6851007, rs6832595, rs4861141, rs4861009, rs10011250, rs11935118, rs75894504, rs77460846, rs79401046, rs71608086, rs4861142, rs1961506, rs1122992, rs1004503, rs6852737, rs997351, rs1946872, rs11729701, rs2028331, rs55710242, rs6447111, rs10938157, rs7655885, rs34287464, rs980523, rs79127770, rs17529372, rs13116296, rs6819286, rs6842806, rs6820104, rs76147779, rs60878849, rs11732187, rs60881980, rs28417750, rs6831893, rs11730903, rs34677848, rs34668549, rs6819629, rs11932740, rs1347906, rs6832183, rs6447112, rs13101747, rs6447113, rs34611982, rs1439475, rs1439474, rs57258710, rs6823022, rs10028962, rs34512517, rs369514130, rs10021404, rs10938158, rs10032144, rs10024527, rs67336008, rs2880606, rs5020056, rs976277, rs976275, rs35262730, rs10049550, rs10028970, rs10050332, rs2343334, rs6850850, rs4861143, rs137130,
4:41760568-41760791	AFR	0.224	12574	upstream	3	rs4861140, rs10000463, rs56609412,
4:41760568-41760791	all_pop	0.224	12574	upstream	3	rs4861140, rs10000463, rs56609412,
4:41760958-41762735	AFR	1.778	12964	upstream	7	rs6832595, rs4861141, rs4861009, rs10011250, rs11935118, rs75894504, rs7746084,
4:41760958-41778850	all_pop	17.893	12964	upstream	72	rs6832595, rs4861141, rs4861009, rs10011250, rs11935118, rs75894504, rs77460846, rs79401046, rs71608086, rs4861142, rs1961506, rs1122992, rs1004503, rs6852737, rs997351, rs1946872, rs11729701, rs2028331, rs55710242, rs6447111, rs10938156, rs10938157, rs7655885, rs34287464, rs980523, rs79127770, rs17529372, rs13116296, rs6819286, rs6842806, rs6820104, rs76147779, rs60878849, rs11732187, rs60881980, rs28417750, rs6831893, rs11730903, rs34677848, rs34668549, rs6819629, rs11932740, rs1347906, rs6832183, rs6447112, rs13101747, rs6447113, rs34611982, rs1439475, rs1439474, rs57258710, rs6823022, rs10028962, rs34512517, rs369514130, rs10021404, rs10938158, rs10032144, rs10024527, rs67336008, rs2880606, rs5020056, rs976277, rs976275, rs77494556, rs35262730, rs10049550, rs10028970, rs10050332, rs2343334, rs6850850, rs486114,
4:41762972-41763213	AFR	0.242	14978	upstream	3	rs71608086, rs4861142, rs196150,
4:41763720-41766210	AFR	2.491	15726	upstream	14	rs6852737, rs997351, rs115378245, rs1946872, rs11729701, rs2028331, rs6447111, rs10938156, rs10938157, rs7655885, rs34287464, rs980523, rs79127770, rs1752937,
4:41766576-41778500	AFR	11.925	18582	upstream	51	rs6819286, rs6842806, rs59894355, rs6820104, rs60878849, rs11732187, rs60881980, rs28417750, rs6831893, rs11730903, rs34677848, rs34668549, rs6819629, rs11932740, rs1347906, rs6832183, rs6447112, rs60227830, rs60149523, rs13101747, rs6447113, rs34611982, rs1439475, rs1439474, rs57258710, rs6823022, rs10028962, rs34512517, rs369514130, rs10021404, rs10938158, rs74912821, rs10032144, rs10024527, rs67336008, rs115668082, rs2880606, rs5020056, rs58804451, rs976277, rs976275, rs35262730, rs10049550, rs10028970, rs77812958, rs10050332, rs76085873, rs2343334, rs77311203, rs78135675, rs685085,
4:41778850-41785349	AFR	6.5	30856	upstream	29	rs4861143, rs74517738, rs1371303, rs1371304, rs10013039, rs1866522, rs16853601, rs1866523, rs13135354, rs7659516, rs11441078, rs4861144, rs7661698, rs7665220, rs10019220, rs1009162, rs1009163, rs79035169, rs36013106, rs9999953, rs10002758, rs34662826, rs71650945, rs28622137, rs1371308, rs1371309, rs76501571, rs76284483, rs1071226,
4:41778973-41785349	all_pop	6.377	30979	upstream	23	rs1371303, rs1371304, rs10013039, rs1866522, rs1866523, rs13135354, rs7659516, rs11441078, rs4861144, rs7661698, rs7665220, rs10019220, rs1009162, rs1009163, rs36013106, rs9999953, rs10002758, rs34662826, rs71650945, rs28622137, rs1371308, rs1371309, rs1071226,
4:41778981-41785349	AMR	6.369	30987	upstream	22	rs1371304, rs10013039, rs1866522, rs1866523, rs13135354, rs7659516, rs11441078, rs4861144, rs7661698, rs7665220, rs10019220, rs1009162, rs1009163, rs36013106, rs9999953, rs10002758, rs34662826, rs71650945, rs28622137, rs1371308, rs1371309, rs1071226,
4:41785495-41785709	AFR	0.215	37501	upstream	2	rs7676176, rs1071226,
4:41785495-41785709	all_pop	0.215	37501	upstream	2	rs7676176, rs1071226,
4:41785495-41788684	AMR	3.19	37501	upstream	6	rs7676176, rs10712265, rs5857817, rs1540499, rs11931088, rs7631315,
4:41785495-41788684	EUR	3.19	37501	upstream	6	rs7676176, rs10712265, rs5857817, rs1540499, rs11931088, rs7631315,
4:41786086-41788789	AFR	2.704	38092	upstream	8	rs5857817, rs77612607, rs1540499, rs78547893, rs11931088, rs76313154, rs10938159, rs683516,
4:41786086-41788789	all_pop	2.704	38092	upstream	6	rs5857817, rs1540499, rs11931088, rs76313154, rs10938159, rs683516,
4:41788789-41789554	AMR	0.766	40795	upstream	2	rs6835169, rs486114,
4:41788789-41789554	EUR	0.766	40795	upstream	2	rs6835169, rs486114,
4:41788789-41790075	SAS	1.287	40795	upstream	5	rs6835169, rs4861145, rs79283575, rs4861011, rs143948,
4:41789554-41790222	AFR	0.669	41560	upstream	6	rs4861145, rs79283575, rs4861011, rs1439484, rs1439483, rs11563070,
4:41789554-41789560	all_pop	0.007	41560	upstream	2	rs4861145, rs7928357,
4:41789560-41798985	AMR	9.426	41566	upstream	41	rs79283575, rs4861011, rs1439484, rs1439483, rs55867255, rs78281295, rs75279004, rs10031090, rs9997912, rs11727919, rs1154598, rs1984911, rs80105621, rs78622609, rs75666942, rs11727281, rs11727311, rs77791048, rs60006619, rs10222834, rs6851412, rs59403095, rs145338942, rs13113485, rs1898889, rs1898888, rs60955421, rs1371310, rs5857819, rs1439482, rs58288807, rs79299571, rs75998431, rs75689614, rs1837383, rs1439481, rs1439480, rs77739858, rs74500008, rs1439479, rs143947,
4:41789679-41790467	all_pop	0.789	41685	upstream	5	rs4861011, rs1439484, rs1439483, rs55867255, rs7828129,
4:41789679-41795265	EUR	5.587	41685	upstream	28	rs4861011, rs1439484, rs1439483, rs55867255, rs78281295, rs75279004, rs10031090, rs9997912, rs11727919, rs1154598, rs1984911, rs80105621, rs78622609, rs75666942, rs11727281, rs11727311, rs60006619, rs10222834, rs6851412, rs59403095, rs145338942, rs13113485, rs1898889, rs1898888, rs60955421, rs1371310, rs5857819, rs143948,
4:41790191-41790344	EAS	0.154	42197	upstream	2	rs1439483, rs5586725,
4:41790191-41799127	SAS	8.937	42197	upstream	28	rs1439483, rs55867255, rs78281295, rs75279004, rs10031090, rs9997912, rs11727919, rs1154598, rs1984911, rs80105621, rs78622609, rs75666942, rs111652103, rs11727281, rs11727311, rs60006619, rs10222834, rs6851412, rs59403095, rs145338942, rs13113485, rs1898889, rs1898888, rs60955421, rs1371310, rs5857819, rs1439482, rs682211,
4:41790467-41800171	AFR	9.705	42473	upstream	41	rs78281295, rs10031090, rs9997912, rs11727919, rs1154598, rs61313542, rs1984911, rs80105621, rs78622609, rs75666942, rs11727281, rs11727311, rs60006619, rs10222834, rs6851412, rs59403095, rs145338942, rs1898889, rs1898888, rs60955421, rs112480299, rs1371310, rs5857819, rs1439482, rs58326811, rs78727547, rs58288807, rs75998431, rs75689614, rs1837383, rs1439481, rs1439480, rs74500008, rs1439479, rs1439478, rs79474592, rs6822112, rs77534939, rs146759448, rs111657473, rs2862579,
4:41790467-41790474	EAS	0.008	42473	upstream	2	rs78281295, rs7527900,
4:41790474-41799874	all_pop	9.401	42480	upstream	34	rs75279004, rs10031090, rs9997912, rs11727919, rs1154598, rs1984911, rs80105621, rs78622609, rs75666942, rs11727281, rs11727311, rs60006619, rs10222834, rs6851412, rs59403095, rs145338942, rs13113485, rs1898889, rs1898888, rs60955421, rs1371310, rs5857819, rs1439482, rs58288807, rs75998431, rs75689614, rs1837383, rs1439481, rs1439480, rs74500008, rs1439479, rs1439478, rs6822112, rs14675944,
4:41790600-41800171	EAS	9.572	42606	upstream	23	rs9997912, rs11727919, rs1154598, rs61313542, rs1984911, rs80105621, rs78622609, rs75666942, rs11727281, rs11727311, rs60006619, rs10222834, rs6851412, rs59403095, rs145338942, rs1898889, rs1898888, rs60955421, rs5857819, rs1439482, rs78727547, rs6822112, rs2862579,

No Alu found near the repeat

Conservation score was not calculated