Supplemental Digital ContentTable 1. Genotype phenotype summary.

Patient ID / CCF ID / Sex / Age at collection (years) / Classification / Mutation/variant nomenclature / Maccrocephaly / MR/Autism/DD / Breast-Malignant / Breast-Benign / Thyroid-Malignant / Thyroid-Benign / Path. mucocutaneous lesions / Lipomas / Fibromas / GI hamartomas / Uterine cancer / Uterine fibroids / Renal cell cancer / Other G/U tumor/malformation / Paraganglioma-Malignant / Paraganglioma-Benign / Plasma Succinate / Urine Succinate
1 / CCF00616-01-002 / F / 52 / PTEN mutation negative, CS / WT /  /  /  / N / H
2 / CCF01065-01-001 / F / 59 / PTEN mutation negative, CS / WT /  /  /  /  /  /  /  / N / N
3 / CCF02255-01-001 / F / 47 / PTEN mutation negative, CS / WT /  /  /  /  /  /  / N / N
4 / CCF02413-01-001 / F / 43 / PTEN mutation negative, CS / WT /  /  /  /  /  / H / H
5 / CCF02835-01-001 / F / 48 / PTEN mutation negative, CS / WT /  /  /  /  / N / N
6 / CCF02911-03-001 / F / 65 / PTEN mutation negative, CS / WT /  /  /  / N / H
7 / CCF03190-01-001 / F / 62 / PTEN mutation negative, CS / WT /  /  /  /  / N / N
8 / CCF04332-01-001 / F / 29 / PTEN mutation negative, CS / WT /  /  /  /  /  /  /  / H / N
9 / CCF04643-01-001 / F / 33 / PTEN mutation negative, CS / WT /  /  /  /  / H / N
10 / CCF00102-01-001 / F / 44 / PTEN mutation negative, CS / WT /  /  /  /  /  /  /  /  / N / N
11 / CCF05039-01-001 / F / 74 / PTEN mutation negative, CS / WT /  /  /  /  /  /  /  /  / N / N
12 / CCF05099-01-001 / F / 59 / PTEN mutation negative, CS / WT /  /  /  /  / N / N
13 / CCF02284-01-001 / F / 46 / PTEN mutation negative, CS / WT /  /  /  /  / N
14 / CCF02911-01-001 / F / 86 / PTEN mutation negative, CS / SDHC other polymorphism c.*123C>G /  /  /  /  /  / N / N
15 / CCF02911-03-002 / F / 64 / PTEN mutation negative, CS / SDHC other polymorphism c.*123C>G /  /  /  / N / N
16 / CCF05178-01-001 / F / 40 / PTEN mutation negative, CS / WT /  /  /  /  /  / N / N
17 / CCF02254-01-001 / F / 48 / PTEN mutation negative, CSL / WT /  /  /  / H / N
18 / CCF02393-01-001 / F / 46 / PTEN mutation negative, CSL / WT /  /  /  / N / N
19 / CCF04789-01-001 / F / 71 / PTEN mutation negative, CSL / WT /  /  / N / N
20 / CCF04392-01-002 / F / 51 / PTEN mutation negative, CSL / SDHD SNP c.149A>G (His50Arg) /  / N / N
21 / CCF00559-01-001 / F / 39 / PTEN mutation positive / c.389G>A (Arg130Gln) /  /  /  /  /  /  / H / H
22 / CCF01140-01-001 / M / 63 / PTEN mutation positive / c.395G>A (Gly132Asp) /  /  /  /  / N / N
23 / CCF01238-02-001 / M / 45 / PTEN mutation positive / c.800delA (Frameshift) /  /  /  /  /  /  / N
24 / CCF01731-01-001 / M / 54 / PTEN mutation positive / c.150delT (Frameshift) /  /  /  /  /  /  / N
25 / CCF01965-01-001 / M / 2 / PTEN mutation positive / c.18delAG (Frameshift) /  /  /  /  /  / H / N
26 / CCF02337-01-001 / F / 13 / PTEN mutation positive / c.892C>T (Gln298Ter) /  /  /  /  / H / N
27 / CCF02834-01-001 / F / 44 / PTEN mutation positive / c.49C>T (Gln17Ter) /  /  /  /  /  /  / H / N
28 / CCF02986-01-001 / F / 54 / PTEN mutation positive / c.697C>T (Arg233Ter) /  /  /  /  /  /  /  /  / N / N
29 / CCF03159-01-001 / F / 9 / PTEN mutation positive / c.1003C>T (Arg335Ter) /  /  /  /  / H / N
30 / CCF03336-01-001 / F / 54 / PTEN mutation positive / c.388C>T (Arg130Ter) /  /  /  /  /  /  /  / H / H
31 / CCF03349-01-001 / F / 17 / PTEN mutation positive / c.512insA (Frameshift) /  /  /  /  /  /  /  /  / H
32 / CCF04366-01-001 / M / 4 / PTEN mutation positive / Heterozygous whole gene deletion /  /  /  /  / H / N
33 / CCF04386-01-001 / M / 2 / PTEN mutation positive / c.737C>T (Pro246Leu) /  /  /  / H / N
34 / CCF04392-01-001 / F / 45 / PTEN mutation positive / PTEN c.697C>T (Arg233Ter);
SDHD SNP c.149A>G (His50Arg) /  /  /  /  /  / N / N
35 / CCF04906-01-001 / M / 38 / PTEN mutation positive / c.49C>T (Gln17Ter) /  /  /  /  /  / N
36 / CCF04906-03-001 / M / 15 / PTEN mutation positive / c.49C>T (Gln17Ter) /  /  /  /  / N
37 / CCF04906-03-002 / M / 11 / PTEN mutation positive / c.49C>T (Gln17Ter) /  /  /  / N
38 / CCF05130-01-001 / M / 6 / PTEN mutation positive / c.419insA (Frameshift) /  /  / N
39 / CCF05428-01-001 / M / 4 / PTEN mutation positive / c.388C>T (Arg130Ter) /  /  /  / N / N
40 / CCF05063-01-001 / F / 12 / PTEN mutation positive / c.511C>T (Gln171Ter) /  /  / N
41 / CCF05153-01-001 / M / 41 / PTEN mutation positive / c.441_442delGGinsA (Frameshift) /  /  / N / N
42 / CCF02438-01-001 / F / 57 / PTEN mutation positive / c.1033C>G (Leu345Val) /  /  /  /  /  /  / N
43 / CCF04499-01-001 / M / 23 / PTEN mutation positive / c.382A>G (Lys128Glu) /  /  /  /  /  / H / N
44 / CCF04317-01-001 / F / 56 / PTEN mutation positive / PTEN Deletion of exons 1-9;
SDHD SNP c.149A>G (His50Arg) /  /  /  /  /  /  /  / H / H
45 / CCF02831-01-001 / F / 60 / PTEN VUS / c.210-7del5 /  /  /  /  / H / H
46 / CCF04393-01-001 / F / 8 / PTEN VUS / c.-805G>T /  /  / N
47 / CCF04890-01-001 / F / 45 / PTEN VUS / c.-1043del5 /  /  /  /  / N / N
48 / CCF02394-01-001 / F / 27 / SDH mutation negative, PGL / WT /  /  / N / N
49 / CCF04834-01-001 / F / 71 / SDH mutation negative, PGL / WT /  /  / N / N
50 / CCF05087-01-001 / F / 48 / SDH mutation negative, PGL / WT /  / N
51 / CCF05152-01-001 / M / 63 / SDH mutation negative, PGL / WT /  / N / N
52 / CCF05258-01-001 / F / 58 / SDH mutation negative, PGL / WT /  / N / N
53 / CCF04934-01-001 / M / 50 / SDH mutation negative, PGL / WT /  /  / N / N
54 / CCF05177-01-001 / F / 55 / SDH mutation negative, PGL / WT /  / N / N
55 / CCF05141-01-001 / F / 35 / SDH mutation negative, PGL / WT /  / N / N
56 / CCF05088-01-001 / F / 58 / SDH mutation negative, PGL / WT /  / N / H
57 / CCF02250-01-001 / M / 68 / SDH mutation negative, PGL / WT /  / N / N
58 / CCF02311-01-001 / F / 47 / SDH mutation negative, PGL / WT /  / N / H
59 / CCF01137-01-002 / F / 72 / SDHB mutation positive, PGL / c.136C>G (Arg46Gly) / H / N
60 / CCF02195-01-001 / M / 51 / SDHD mutation positive, PGL / c.242C>T (Pro81Leu) /  / H / N
61 / CCF02195-03-001 / M / 24 / SDHD mutation positive, PGL / c.242C>T (Pro81Leu) /  /  / N / N
62 / CCF02633-01-001 / M / 50 / SDHD mutation positive, PGL / c.242C>T (Pro81Leu) /  / H / H
63 / CCF04827-01-001 / F / 57 / SDHD mutation positive, PGL / c.242C>T (Pro81Leu) /  / N / N
64 / CCF04696-03-001 / F / 37 / SDHD mutation positive, PGL / c.242C>T (Pro81Leu) /  / N / N
65 / CCF02832-01-001 / F / 75 / TMEM127 SNP / c.51 C>T (Ser17Ser) /  / H / N
66 / CCF04817-01-001 / F / 51 / VHL mutation positive / c.233A>G (Asn78Ser) /  /  / N / N

Abbreviations: CS, Cowden syndrome; CSL, Cowden syndrome-like; DD, developmental delay; F, female; GI, gastrointestinal; GU, genitourinary; H, high; ICC, International Cowden Consortium; M, male; MR, mental retardation; N, normal; PGL, paraganglioma; PTEN, phosphatase and tensin homologue deleted on chromosome ten; SDHB, succinate dehydrogenase B subunit; SDHD, succinate dehydrogenase D subunit; TMEM127, transmembrane protein 127; VHL, Von Hippel-Lindau; VUS, variant of unknown significance; WT, wild type; Y, yes.