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1 Supplementary Table 1: Fanconi anemia genes were sequenced in germline DNA of 190 Turkmen ESCC patients Gene NCBI Reference Sequence Location Coding region (bp) Coding Exons Sequencing Fragments FANCA NM_000135.2 16q24.3 4368 43 37 FANCB NM_152633.2 Xp22.2 2580 8 9 FANCC NM_000136.2 9q22.3 1677 14 14 FANCD2 NM_033084.3 3p26 4415 43 34 FANCE NM_021922.2 6p22-p21 1611 10 8 FANCF NM_022725.3 11p15 1125 1 2 FANCG NM_004629.1 9p13 1869 14 9 FANCI NM_001113378.1 15q26.1 3984 37 34 FANCJ NM_032043.1 17q22-q24 3750 19 20 FANCL NM_018062.3 2p16.1 1128 14 12 FANCM NM_020937.2 14q21.2 6147 23 25 FANCN NM_024675.3 16p12.2 3561 13 14 36,038 239 218 Total 2 Supplementary Table 2: Distribution of the variants identified in the targeted region of Fanconi anemia genes in 190 Turkmen ESCC cases Insertion/Deletion1 Missense Variant Known Novel Known Novel Known Novel FANCA 0 0 10 9 4 6 FANCB 0 0 1 2 0 1 FANCC 0 0 1 5 0 1 FANCD2 0 1 2 7 4 1 FANCE 0 1 3 2 2 1 FANCF 0 0 1 6 2 0 FANCG 0 0 2 6 0 2 FANCI 0 0 3 13 2 5 FANCJ 0 0 5 4 2 3 FANCL 1 0 0 7 2 1 FANCM 0 0 9 7 1 4 FANCN 0 0 5 5 1 2 Total = 165 1 2 42 73 20 27 Gene 1 Detail information on insertion/deletions are provided in table 4 of the manuscript. Silent Variant 3 Supplementary Table 3: Known missense variants identified in Fanconi anemia genes in germline DNA of 190 Turkmen ESCC cases No. Gene Exon Nucleotide Change Amino Acid Change Heterozygote Homozygote Total Samples rs# Polyphen Prediction SIFT Prediction 1 FANCA 9 c.796A>G p.266Thr>Ala 76 50 190 rs7190823 Benign Tolerated 2 FANCA 14 c.1235C>T p.412Ala>Val 17 1 186 rs11646374 Benign Tolerated 3 FANCA 16 c.1501G>A p.501Gly>Ser 98 48 187 rs2239359 Possibly Damaging Tolerated 4 FANCA 22 c.1927C>G p.643Pro>Ala 15 0 190 rs17232910 Benign Tolerated 5 FANCA 23 c.2101A>G p.701Lys>Glu 1 0 188 rs56369086 Benign Tolerated 6 FANCA 23 c.2151G>T p.717Met>Ile 4 0 189 rs1131660 Benign Tolerated 7 FANCA 26 c.2426G>A p.809Gly>Asp 46 53 189 rs7195066 Benign Tolerated 8 FANCA 27 c.2574C>G p.858Ser>Arg 18 2 189 rs17233141 Probably Damaging Tolerated 9 FANCA 39 c.3859G>A p.1287Val>Ile 1 0 190 rs34360319 Benign Tolerated 10 FANCA 40 c.3982A>G p.1328Thr>Ala 17 0 186 rs9282681 Benign Tolerated 11 FANCB 4 c.1004G>A p.335Gly>Glu 13 12[12]1 188 rs41309679 Probably Damaging 12 FANCC 2 c.77C>T p.26Ser>Phe 1 0 190 rs1800361 13 FANCD2 9 c.577A>G p.193Thr>Ala 1 0 184 rs34936017 Benign Tolerated 14 FANCD2 23 c.2141C>T p.714Pro>Leu 58 6 190 rs3864017 Benign Tolerated 15 FANCE 2 c.266G>T p.89Arg>Leu 3 0 190 rs45600543 Probably Damaging 6 FANCE 2 c.611C>T p.204Ser>Leu 3 0 190 rs7761870 Tolerated Possibly Damaging Not Tolerated Benign Tolerated Tolerated 4 Supplementary Table 3: Continued No. Gene Exon Nucleotide Change Amino Acid Change Heterozygote Homozygote Total Samples rs# Polyphen Prediction SIFT Prediction 17 FANCE 9 c.1504G>A p.502Ala>Thr 13 2 187 rs9462088 Benign Tolerated 18 FANCF 1 c.959C>T p.320Pro>Leu 1 0 185 rs45451294 Possibly Damaging Tolerated 19 FANCG 1 c.20C>T p.7Ser>Phe 6 0 187 rs35984312 Benign Tolerated 20 FANCG 7 c.890C>T p.297Thr>Ile 3 0 186 rs2237857 Benign Tolerated 21 FANCI 4 c.164C>T p.55Pro>Leu 18 1 190 rs62020347 Probably Damaging Tolerated 22 FANCI 4 c.257C>T p.86Ala>Val 92 35 190 rs17803620 Benign Tolerated 23 FANCI 22 c.2225G>C p.742Cys>Ser 85 28 189 rs2283432 Benign Tolerated 24 FANCJ 6 c.517C>T p.173Arg>Cys 1 0 188 rs4988345 25 FANCJ 6 c.577G>A p.193Val>Ile 1 0 188 rs4988346 Benign Tolerated 26 FANCJ 10 c.1433A>G p.478His>Arg 1 0 190 rs45501097 Benign Tolerated 27 FANCJ 19 c.2755T>C p.919Ser>Pro 67 58 187 rs4986764 Benign Tolerated 28 FANCJ 20 c.3103C>T p.1035Arg>Cys 2 0 189 rs45437094 Benign Tolerated 29 FANCM 1 c.229A>G p.77Thr>Ala 2 0 190 rs61746895 Benign Tolerated 30 FANCM 2 c.524C>T p.175Ser>Phe 39 2 188 rs10138997 Possibly Damaging 31 FANCM 2 c.624A>G p.208Ile>Met 1 0 185 rs45547534 Benign Not Tolerated 32 FANCM 11 c.1964A>G p.655Asn>Ser 4 0 190 rs61753893 Benign Tolerated 33 FANCM 14 c.2632G>T p.878Val>Leu 53 6 184 rs1367580 Benign Tolerated Probably Damaging Not Tolerated Tolerated 5 Supplementary Table 3: Continued No. Gene Exon Nucleotide Change Amino Acid Change Heterozygote Homozygote Total Samples rs# Polyphen Prediction SIFT Prediction 34 FANCM 14 c.3758A>G p.1253Asn>Ser 6 0 184 rs45604036 Benign Tolerated 35 FANCM 20 c.4799C>T p.1600Thr>Ile 1 0 188 rs61746943 Possibly Damaging Not Tolerated 36 FANCM 21 c.5434C>G p.1812Pro>Ala 57 5 188 rs3736772 Possibly Damaging Tolerated 37 FANCM 21 c.5627A>G p.1876Asn>Ser 7 0 188 rs45557033 Benign Tolerated 38 FANCN 4 c.925A>G p.309Ile>Val 1 0 184 rs3809683 Benign Tolerated 39 FANCN 4 c.1010T>C p.337Leu>Ser 1 0 184 rs45494092 Possibly Damaging 40 FANCN 4 c.1676A>G p.559Gln>Arg 42 6 186 rs152451 Benign Tolerated 41 FANCN 5 c.2014G>C p.672Glu>Gln 12 0 185 rs45532440 Benign Tolerated 42 FANCN 9 c.2993G>A p.998Gly>Glu 10 0 184 rs45551636 Probably Damaging Not Tolerated 1Because Tolerated the FANCB gene is located at X chromosome, male carriers of the mutated allele represents like homozygotes while they are hemizygote. Number in the bracket indicates the number of males with the mutated allele. 6 Supplementary Table 4: Novel missense variants identified in Fanconi anemia genes in germline DNA of 190 Turkmen ESCC cases No. Gene Exon Nucleotide Change Amino Acid Change Heterozygote Homozygote Total Samples Polyphen Prediction SIFT Prediction 1 FANCA 8 c.776C>G p.259Pro>Arg 1 0 186 Possibly damaging Tolerated 2 FANCA 18 c.1640C>T p.547Ala>Val 1 0 190 Possibly damaging Not Tolerated 3 FANCA 23 c.2096T>G p.699Ile>Arg 1 0 189 Benign Tolerated 4 FANCA 23 c.2098T>G p.700Ser>Ala 1 0 189 Benign Tolerated 5 FANCA 26 c.2390C>T p.797Ala>Val 1 0 189 Benign Tolerated 6 FANCA 30 c.2944A>G p.982Thr>Ala 1 0 186 Benign Tolerated 7 FANCA 31 c.3031C>T p.1011Arg>Cys 5 0 187 Possibly damaging Tolerated 8 FANCA 32 c.3158G>A p.1053Arg>His 1 0 187 Benign Tolerated 9 FANCA 36 c.3538G>A p.1180Val>Met 1 0 185 Benign Not Tolerated 10 FANCB 7 c.1494G>T p.498Lys>Asn 1 0 188 Possibly Damaging Tolerated 11 FANCB 8 c.1769T>C p.590Phe>Ser 1 0 187 Probably Damaging Tolerated 12 FANCC 2 c.56T>C p.19Leu>Pro 1 0 190 Possibly Damaging Tolerated 13 FANCC 10 c.973G>A p.325Ala>Thr 1 0 190 Benign Tolerated 14 FANCC 14 c.1414G>A p.472Gly>Arg 1 0 187 Benign Tolerated 15 FANCC 14 c.1424C>A p.475Thr>Lys 1 0 188 Benign Tolerated 16 FANCC 15 c.1543A>T p.515Thr>Ser 2 0 190 Benign Not Tolerated 17 FANCD2 8 c.514A>C p.172Ile>Leu 2 0 184 Benign Tolerated 7 Supplementary Table 4: Continued No. Gene Exon Nucleotide Change Amino Acid Change Heterozygote Homozygote Total Samples Polyphen Prediction SIFT Prediction 18 FANCD2 17 c.1432G>A p.478Val>Met 1 0 190 Benign Tolerated 19 FANCD2 18 c.1634A>G p.545Asn>Ser 1 0 186 Benign Tolerated 20 FANCD2 19 c.1675A>G p.559Ile>Val 1 0 190 Benign Tolerated 21 FANCD2 21 c.1848G>C p.616Leu>Phe 1 0 189 Possibly Damaging Tolerated 22 FANCD2 28 c.2651C>T p.884Thr>Ile 2 0 184 Benign Tolerated 23 FANCD2 41 c.3973C>A p.1325Leu>Met 3 1 187 Benign Tolerated 24 FANCE 7 c.1290G>T p.430Glu>Asp 2 0 190 Benign Tolerated 25 FANCE 8 c.1333C>T p.445Pro>Ser 1 0 189 Possibly damaging Tolerated 26 FANCF 1 c.19C>T p.7His>Tyr 1 0 189 Benign Tolerated 27 FANCF 1 c.133C>T p.45His>Tyr 2 0 186 Benign Tolerated 28 FANCF 1 c.211G>A p.71Gly>Ser 1 0 185 Benign Tolerated 29 FANCF 1 c.446A>G p.149Asn>Ser 1 0 189 Benign Tolerated 30 FANCF 1 c.557C>T p.186Ala>Val 4 0 190 Benign Tolerated 31 FANCF 1 c.573C>G p.191Ser>Arg 1 0 185 Benign Tolerated 32 FANCG 3 c.262T>A p.88Phe>Ile 1 0 188 Possibly Damaging Tolerated 33 FANCG 4 c.366G>C p.122Trp>Cys 1 0 189 Probably damaging Not Tolerated 34 FANCG 6 c.722C>T p.241Pro>Leu 1 0 190 Probably damaging Not Tolerated 8 Supplementary Table 4: Continued No. Gene Exon Nucleotide Change Amino Acid Change Heterozygote Homozygote Total Samples Polyphen Prediction SIFT Prediction 35 FANCG 10 c.1298G>A p.433Arg>Gln 2 0 185 Benign Tolerated 36 FANCG 10 c.1298G>C p.433Arg>Pro 1 0 189 Benign Tolerated 37 FANCG 11 c.1438C>A p.480Leu>Ile 1 0 190 Benign Tolerated 38 FANCI 4 c.236G>A p.79Gly>Glu 1 0 184 Probably Damaging Tolerated 39 FANCI 4 c.286G>A p.96Glu>Lys 2 0 186 Benign Tolerated 40 FANCI 11 c.946G>C p.316Val>Leu 1 0 185 Benign Tolerated 41 FANCI 12 c.1036G>A p.346Gly>Ser 1 0 186 Benign Tolerated 42 FANCI 15 c.1502A>G p.501Lys>Arg 1 0 189 Benign Tolerated 43 FANCI 18 c.1739A>G p.580Asn>Ser 1 0 190 Possibly Damaging Tolerated 44 FANCI 20 c.1893A>C p.631Leu>Phe 5 0 185 Benign Tolerated 45 FANCI 21 c.2011A>G p.671Ile>Val 7 0 189 Benign Tolerated 46 FANCI 24 c.2604A>C p.868Glu>Asp 8 0 185 Benign Tolerated 47 FANCI 24 c.2627A>G p.876Asp>Gly 5 0 188 48 FANCI 24 c.2629A>T p.877Ile>Leu 30 0 188 Benign Tolerated 49 FANCI 37 c.3898G>A p.1300Glu>Lys 1 0 187 Benign Tolerated 50 FANCI 37 c.3907G>A p.1303Glu>Lys 1 0 189 Benign Tolerated 51 FANCJ 5 c.442A>G p.148Arg>Gly 1 0 190 Benign Tolerated Possibly Damaging Not Tolerated 9 Supplementary Table 4: Continued No. Gene Exon Nucleotide Change Amino Acid Change Heterozygote Homozygote Total Samples Polyphen Prediction SIFT Prediction 52 FANCJ 7 c.787C>T p.263Leu>Phe 1 0 190 Possibly Damaging Tolerated 53 FANCJ 20 c.3148A>C p.1050Thr>Pro 1 0 189 Possibly damaging Tolerated 54 FANCJ 20 c.3149C>A p.1050Thr>Asn 2 0 190 Benign Tolerated 55 FANCL 2 c.108C>G p.36Phe>Leu 6 0 185 Probably Damaging Tolerated 56 FANCL 6 c.454C>A p.152Leu>Ile 1 0 185 Benign Tolerated 57 FANCL 7 c.490G>T p.164Asp>Tyr 1 0 187 Probably Damaging Tolerated 58 FANCL 8 c.622G>A p.208Asp>Asn 4 0 188 Possibly Damaging Not Tolerated 59 FANCL 8 c.670A>G p.224Thr>Ala 0 1 188 Benign Tolerated 60 FANCL 9 c.739A>G p.247Met>Val 1 0 184 Probably Damaging Tolerated 61 FANCL 9 c.755T>G p.252Phe>Cys 1 0 184 Benign Tolerated 62 FANCM 1 c.122C>T p.41Pro>Leu 1 0 190 Benign Tolerated 63 FANCM 13 c.2267G>A p.756Arg>His 1 0 190 Benign Tolerated 64 FANCM 16 c.4378A>G p.1460Ile>Val 51 6 187 Benign Tolerated 65 FANCM 17 c.4400C>T p.1467Ser>Phe 1 0 188 Possibly Damaging Tolerated 66 FANCM 20 c.4931G>A p.1644Arg>Gln 3 0 186 Benign Not Tolerated 67 FANCM 20 c.5224A>G p.1742Ile>Val 2 0 186 Benign Tolerated 68 FANCM 21 c.5569G>A p.1857Val>Met 1 0 188 Benign Not Tolerated 10 Supplementary Table 4: Continued No. Gene Exon Nucleotide Change Amino Acid Change Heterozygote Homozygote Total Samples Polyphen Prediction SIFT Prediction 69 FANCN 1 c.37G>A p.13Glu>Lys 2 0 189 Benign Tolerated 70 FANCN 4 c.839A>C p.280Asn>Thr 1 0 186 Possibly Damaging Tolerated 71 FANCN 5 c.1960A>G p.654Ile>Val 1 0 185 Benign Tolerated 72 FANCN 5 c.2222G>A p.741Gly>Asp 3 0 188 Benign Tolerated 73 FANCN 12 c.3306C>G p.1102Ser>Arg 1 0 185 Possibly Damaging Not Tolerated 11 Supplementary Table 5: Known silent variants identified in Fanconi anemia genes in germline DNA of 190 Turkmen ESCC cases No. Gene Exon Nucleotide Change Amino Acid Change Heterozygote Homozygote Total Samples rs# 1 FANCA 13 c.1143G>T p.381Thr>Thr 17 1 186 rs1800331 2 FANCA 30 c.2901C>T p.967Ser>Ser 19 0 186 rs17226980 3 FANCA 37 c.3654A>G p.1218Pro>Pro 25 2 190 rs1800358 4 FANCA 38 c.3807G>C p.1269Leu>Leu 30 1 184 rs11649210 5 FANCD2 16 c.1401G>A p.467Thr>Thr 28 0 186 rs12330369 6 FANCD2 17 c.1440T>C p.480His>His 50 0 190 rs445387 7 FANCD2 17 c.1509C>T p.503Asn>Asn 82 17 190 rs45530437 8 FANCD2 42 c.4098T>G p.1366Leu>Leu 71 10 186 rs2272125 9 FANCE 2 c.387A>C p.129Pro>Pro 112 20 190 rs4713867 10 FANCE 5 c.1071C>T p.357Leu>Leu 21 2 188 rs3823434 11 FANCF 1 c.786A>G p.262Leu>Leu 4 0 189 rs11026706 12 FANCF 1 c.825G>A p.275Leu>Leu 3 0 187 rs36045913 13 FANCI 13 c.1179T>C p.393Tyr>Tyr 4 0 185 rs3743377 14 FANCI 23 c.2367G>T p.789Ala>Ala 9 0 186 rs11857960 15 FANCJ 19 c.2637A>G p.879Glu>Glu 62 108 187 rs4986765 16 FANCJ 20 c.3411T>C p.1137Tyr>Tyr 82 60 189 rs4986763 17 FANCL 12 c.981T>C p.327Ser>Ser 92 65 185 rs848291 18 FANCL 13 c.1077T>C p.359Cys>Cys 5 0 185 rs11539575 19 FANCM 23 c.6141T>C p.2047Asp>Asp 2 0 185 rs8018014 20 FANCN 12 c.3300T>G p.1100Thr>Thr 11 0 185 rs45516100 12 Supplementary Table 6: Novel silent variants identified in Fanconi anemia genes in germline DNA of 190 Turkmen ESCC cases No. Gene Exon Nucleotide Change Amino Acid Change Heterozygote Homozygote Total Samples 1 FANCA 19 c.1734C>T p.578Tyr>Tyr 1 0 190 2 FANCA 28 c.2745C>T p.915Thr>Thr 7 0 185 3 FANCA 30 c.2853G>A p.951Arg>Arg 1 0 186 4 FANCA 34 c.3390C>T p.1130Ile>Ile 1 0 190 5 FANCA 38 c.3805C>T p.1269Leu>Leu 1 0 185 6 FANCA 43 c.4332T>G p.1444Pro>Pro 1 0 187 7 FANCB 3 c.906C>T p.302Ser>Ser 0 1[1]1 188 8 FANCC 7 c.609C>T p.203Leu>Leu 1 0 190 9 FANCD2 38 c.3789G>A p.1263Glu>Glu 1 0 187 10 FANCE 10 c.1572G>A p.524Arg>Arg 1 0 190 11 FANCG 3 c.238C>T p.80Leu>Leu 1 0 188 12 FANCG 8 c.927C>T p.309Ala>Ala 1 0 186 13 FANCI 24 c.2487T>G p.829Leu>Leu 2 0 187 14 FANCI 24 c.2547G>A p.849Lys>Lys 5 182 187 15 FANCI 27 c.2997C>T p.999Ser>Ser 1 0 186 16 FANCI 37 c.3891T>A p.1297Val>Val 3 0 190 17 FANCI 37 c.3906T>C p.1302Gly>Gly 84 33 189 18 FANCJ 5 c.387T>C p.129Pro>Pro 1 0 187 19 FANCJ 7 c.690G>A p.230Ser>Ser 1 0 188 20 FANCJ 10 c.1455T>C p.485Ala>Ala 1 0 190 21 FANCL 6 c.456C>G p.152Leu>Leu 1 0 189 22 FANCM 9 c.1560T>C p.520Phe>Phe 1 0 186 13 Supplementary Table 6: Continued No. Gene Exon Nucleotide Change Amino Acid Change Heterozygote Homozygote Total Samples 23 FANCM 11 c.1947A>C p.649Pro>Pro 1 0 190 24 FANCM 13 c.2190A>G p.730Gln>Gln 2 0 190 25 FANCM 17 c.4473C>T p.1491Ala>Ala 1 0 188 26 FANCN 5 c.2175A>T p.725Ser>Ser 1 0 185 27 FANCN 12 c.3204G>A p.1068Gly>Gly 2 0 185 1Because the FANCB gene is located at X chromosome, male carriers of the mutated allele represents like homozygotes while they are hemizygote. Number in the bracket indicates the number of males with the mutated allele. 14 Supplementary Table 7: Known variants identified at the untranslated region (UTR) of Fanconi anemia genes in germline DNA of 190 Turkmen ESCC cases. NO. Gene Locus Nucleotide Change Heterozygote Homozygote Total Samples rs# 1 FANCA 3' UTR c.4368+154G>A 52 71 184 rs1230 2 FANCC 5' UTR c.1-29A>C 2 0 192 rs4647414 3 FANCD2 5' UTR c.1-6G>C 4 0 188 rs3732974 4 FANCD2 3' UTR c.4356+3C>T 62 21 185 rs3172417 5 FANCE 3' UTR c.1611+151A>G 6 0 192 rs16876572 6 FANCF 5' UTR c.1-10C>T 51 10 185 rs3740615 7 FANCG 5' UTR c.1-490G>T 46 7 192 rs10972303 8 FANCN c.1-47G>A 22 3 189 rs8053188 5' UTR 15 Supplementary Table 8: Novel variants identified at the untranslated region (UTR) of Fanconi anemia genes in germline DNA of 190 Turkmen ESCC cases. NO. Gene Locus Nucleotide Change Heterozygote Homozygote Total Samples 1 FANCA 3' UTR c.4368+138T>A 1 0 188 2 FANCB 5' UTR c.1-7556A>G 1 0 187 3 FANCB 5' UTR c.1-7516G>A 1 0 189 4 FANCC 5' UTR c.1-68381C>T 1 0 192 5 FANCC 5' UTR c.1-68311A>C 2 0 192 6 FANCC 3' UTR c.1677+106C>G 1 0 192 7 FANCC 3' UTR c.1677+114T>G 3 0 192 8 FANCC 3' UTR c.1677+328T>G 1 0 192 9 FANCC 3' UTR c.1677+356T>A 1 0 192 10 FANCC 3' UTR c.1677+593C>G 1 0 192 11 FANCC 3' UTR c.1677+723_1677+726_delAGTT 1 0 192 12 FANCC 3' UTR c.1677+801T>A 1 0 192 13 FANCE 3' UTR c.1611+290C>T 1 0 192 14 FANCG 5' UTR c.1-453_1-452_insT 57 0 192 15 FANCG 5' UTR c.1-318G>A 4 0 192 16 FANCG 5' UTR c.1-264T>A 1 0 192 17 FANCG 5' UTR c.1-93C>G 1 0 190 18 FANCG 5' UTR c.1-83C>T 1 0 190 19 FANCI 5' UTR c.1-3685T>C 2 0 187 20 FANCL 5' UTR c.1-39A>G 1 0 186 21 FANCL 5' UTR c.1-31_1-32_delAGinsC 1 0 187 16 Supplementary Table 9: Known intronic variants identified in Fanconi anemia genes in germline DNA of 190 Turkmen ESCC patients NO. Gene Intron Nucleotide Change Heterozygote Homozygote Total Samples rs# 1 FANCA 7 c.709+58G>A 4 1 187 rs34010191 2 FANCA 8 c.710-12A>G 76 16 186 rs1800286 3 FANCA 10 c.894-8A>G 12 0 190 rs11648881 4 FANCA 13 c.1226-80T>C 76 50 186 rs6500450 5 FANCA 13 c.1226-20A>G 81 43 186 rs1800330 6 FANCA 23 c.2151+8T>C 83 39 190 rs1800340 7 FANCA 24 c.2222+73A>G 92 11 188 rs1800341 8 FANCA 24 c.2222+100A>G 94 32 188 rs886950 9 FANCA 24 c.2222+107T>C 94 32 188 rs886951 10 FANCA 25 c.2316+67A>G 26 159 188 rs62989960 11 FANCA 27 c.2601+62G>A 1 0 188 rs17233148 12 FANCA 27 c.2601+93G>C 2 0 187 rs36110837 13 FANCA 27 c.2602-19G>C 2 0 185 rs17233225 14 FANCA 28 c.2779-55C>G 12 0 189 rs17226834 15 FANCA 28 c.2779-7T>C 19 0 187 rs17233253 16 FANCA 29 c.2852+137T>C 19 0 187 rs12933317 17 FANCA 31 c.3066+55A>G 91 49 186 rs3743860 18 FANCA 31 c.3067-57A>C 15 0 187 rs1800344 19 FANCA 31 c.3067-23G>A 14 0 185 rs17227057 20 FANCA 31 c.3067-4T>C 16 0 186 rs17227064 21 FANCA 38 c.3828+81G>T 18 1 184 rs11649162 17 Supplementary Table 9: Continued NO. Gene Intron Nucleotide Change Heterozygote Homozygote Total Samples rs# 22 FANCA 39 c.3934+55T>A 45 22 186 rs7195906 23 FANCA 39 c.3934+59G>T 30 2 187 rs11647746 24 FANCA 39 c.3935-16C>T 78 36 187 rs1061646 25 FANCA 40 c.4010+92T>C 30 2 185 rs9282682 26 FANCA 42 c.4260+29T>C 72 12 184 rs1800359 27 FANCB 6 c.1327-10T>C 37 75[67]1 188 rs2905223 28 FANCC 14 c.1533+50G>A 1 0 188 rs4647544 29 FANCD2 3 c.205+9T>G 1 0 190 rs34113138 30 FANCD2 9 c.695+16G>C 71 8 188 rs17032283 31 FANCD2 16 c.1413+3A>G 47 0 189 rs62245508 32 FANCD2 16 c.1413+14T>C 7 0 187 rs12330599 33 FANCD2 16 c.1413+38A>C 62 9 184 rs7615646 34 FANCD2 16 c.1414-9C>T 2 0 190 rs35557429 35 FANCD2 23 c.2169-154G>A 66 8 185 rs34080274 36 FANCD2 24 c.2270-28G>T 66 8 185 rs34608006 37 FANCD2 26 c.2494+100A>G 8 0 188 rs35888164 38 FANCD2 27 c.2606-135T>C 69 10 184 rs9824585 39 FANCD2 27 c.2606-40A>T 1 0 184 rs36075953 40 FANCD2 30 c.2976+36T>C 73 10 187 rs6805869 41 FANCD2 30 c.2976+47A>G 8 0 187 rs34810856 42 FANCD2 38 c.3849+13A>G 69 10 187 rs9811771 18 Supplementary Table 9: Continued NO. Gene Intron Nucleotide Change Heterozygote Homozygote Total Samples rs# 43 FANCD2 40 c.3963+103C>T 69 10 184 rs7610821 44 FANCD2 42 c.4185+33T>C 70 10 185 rs2272124 45 FANCD2 43 c.4281+172G>A 67 10 184 rs7626117 46 FANCD2 43 c.4281+197A>G 68 9 185 rs7647987 47 FANCE 4 c.970-84T>C 10 0 185 rs3800376 48 FANCE 7 c.1316+19G>A 35 3 187 rs6457823 49 FANCG 1 c.84+77C>A 85 45 187 rs504082 50 FANCG 3 c.307+126T>C 1 0 189 rs17880162 51 FANCG 4 c.510+38C>T 2 0 189 rs17885506 52 FANCG 4 c.511-45A>G 61 89 189 53 FANCG 5 c.646+58C>T 61 7 189 54 FANCG 7 c.925-44G>A 1 0 186 rs17883759 55 FANCG 12 c.1636+7A>G 74 22 190 rs587118 56 FANCI 4 c.288+37G>A 83 35 187 rs16942918 57 FANCI 7 c.545+19C>T 82 28 184 rs1981623 58 FANCI 7 c.545+30G>A 81 31 184 rs1981624 59 FANCI 9 c.756-87G>C 66 39 186 rs7496308 60 FANCI 15 c.1512+72T>C 7 0 189 rs3784749 61 FANCI 17 c.1698+15C>T 90 28 187 rs9806604 62 FANCI 17 c.1699-7C>A 3 0 189 rs28446881 63 FANCJ 5 c.508-110T>G 1 0 188 rs34802873 rs554098 rs17885726 19 Supplementary Table 9: Continued NO. Gene Intron Nucleotide Change 64 FANCJ 5 c.508-31C>G 67 8 188 rs4988344 65 FANCL 5 c.375-49C>G 35 7 185 rs1404459 66 FANCL 8 c.691+70A>G 134 17 185 rs848288 67 FANCL 13 c.1093-65G>A 78 22 184 rs3732136 68 FANCM 8 c.1397-58T>G 9 0 184 rs11157433 69 FANCM 15 c.4318-27G>A 53 6 187 rs8020533 70 FANCM 17 59 6 190 rs35262217 71 FANCN 10 c.3114-51T>A 0 186 186 rs249936 72 FANCN 11 c.3201+101A>G 41 9 186 rs249935 1Because c.4516-9_45166delCTTA Heterozygote Homozygote Total Samples rs# the FANCB gene is located at X chromosome, male carriers of the mutated allele represents like homozygotes while they are hemizygote. Number in the bracket indicates the number of males with the mutated allele. 20 Supplementary Table 10: Novel intronic variants identified in Fanconi anemia genes in germline DNA of 190 Turkmen ESCC patients. NO. Gene Intron Nucleotide Change Heterozygote Homozygote Total Samples 1 FANCA 7 c.710-70G>T 6 0 184 2 FANCA 7 c.710-69G>T 1 0 185 3 FANCA 7 c.710-42_710-41_insC 1 0 186 4 FANCA 11 c.1007-62_delA 156 5 185 5 FANCA 12 c.1084-28T>G 1 0 186 6 FANCA 13 c.1225+52_1225+53_insG 1 0 186 7 FANCA 13 c.1226-46C>G 1 0 186 8 FANCA 14 c.1359+25C>G 1 0 186 9 FANCA 14 c.1359+60G>A 1 0 186 10 FANCA 14 c.1359+98T>G 9 0 186 11 FANCA 21 c.1900+7T>A 1 0 186 12 FANCA 26 c.2504+8C>A 1 0 190 13 FANCA 29 c.2852+163G>A 2 0 184 14 FANCA 29 c.2853-41G>A 1 0 185 c.3239+33_3239+51_delCCACCTGG 15 FANCA 32 GCAGGGCAGCA 1 0 187 16 FANCA 32 c.3239+134C>A 1 0 186 17 FANCA 3 c.3239+135C>A 80 29 187 18 FANCA 42 c.4260+66G>A 1 0 188 19 FANCB 4 c.1104+65A>G 18 1[1]1 190 20 FANCB 7 c.1496+15A>C 1 0 188 21 FANCC 6 c.521+10_521+13het_delAAAC 2 0 185 21 Supplementary Table 10: Continued NO. Gene Intron Nucleotide Change Heterozygote Homozygote Total Samples 22 FANCD2 5 c.377+77C>T 1 0 187 23 FANCD2 8 c.570+94A>C 1 0 184 24 FANCD2 8 c.571-174G>A 2 0 184 25 FANCD2 17 c.1546-58A>T 3 0 189 26 FANCD2 21 c.1947+69_delT 177 3 189 27 FANCD2 21 c.1947+70_delC 2 0 185 28 FANCD2 26 c.2494+59C>G 1 0 188 29 FANCD2 26 c.2494+103A>G 1 0 188 30 FANCD2 27 c.2605+81A>G 1 0 184 31 FANCD2 40 c.3963+133T>A 0 1 189 32 FANCD2 40 c.3964-20T>A 1 0 186 33 FANCE 4 c.970-50G>A 3 0 188 34 FANCE 5 c.1113+23_1113+24_insC 3 0 188 35 FANCE 5 c.1113+30C>T 3 0 188 36 FANCE 6 c.1238-16G>T 5 0 186 37 FANCG 4 c.307+11het_delG 1 0 186 38 FANCG 4 c.510+41C>T 1 0 185 39 FANCG 13 c.1760+10A>G 1 0 190 40 FANCI 6 c.504-49T>C 2 0 184 41 FANCI 6 c.504-33A>G 3 0 184 42 FANCI 11 c.976-112T>C 10 0 186 22 Supplementary Table 10: Continued NO. Gene Intron Nucleotide Change Heterozygote Homozygote Total Samples 43 FANCI 11 c.976-13A>T 7 0 186 44 FANCI 17 c.1698+64C>T 3 0 187 45 FANCI 18 c.1821+33A>C 5 0 186 46 FANCI 18 c.1821+70C>T 2 0 188 47 FANCI 18 c.1822-65T>C 7 0 188 48 FANCI 23 c.2457-12G>C 1 0 184 49 FANCI 23 c.2457-4C>A 1 0 189 50 FANCI 24 c.2636+38G>A 1 0 189 51 FANCI 24 c.2636+40C>A 1 0 190 52 FANCI 24 c.2636+59A>C 1 0 188 53 FANCI 27 c.3006+15A>C 84 36 186 54 FANCI 36 c.3816+15A>T 15 1 190 55 FANCI 37 c.3925-126_delA 1 0 186 56 FANCJ 4 c.379+112_379+113_insT 1 0 185 57 FANCJ 5 c.508-53G>C 1 0 188 58 FANCJ 7 c.918+15T>A 5 0 189 59 FANCJ 8 c.1141-126_1141-125_delCT 1 187 188 60 FANCJ 8 c.1141-96T>C 1 0 188 61 FANCJ 8 c.1141-64C>A 1 0 188 62 FANCJ 15 c.2257+76T>C 1 0 185 63 FANCL 5' c.1-121C>G 7 0 186 23 Supplementary Table 10: Continued NO. Gene Intron Nucleotide Change Heterozygote Homozygote Total Samples 64 FANCL 3 c.217-11T>C 23 0 186 65 FANCL 4 c.274-32A>C 36 5 188 66 FANCL 5 c.374+35_delT 33 0 185 67 FANCL 5 c.375-122_375-121_insTGAT 1 0 186 68 FANCL 5 c.375-93_375-92_insA 1 0 186 69 FANCL 5 c.375-85A>G 11 0 186 70 FANCL 6 c.472-95G>A 2 0 187 71 FANCL 8 c.691+59_691+61_delTAA 78 10 184 72 FANCL 12 c.1021-18A>T 2 0 185 73 FANCM 6 c.1184-48A>G 2 0 187 74 FANCM 8 c.1397-15_1397-14het_delTA 53 8 184 75 FANCM 11 c.2003-33_2003-32_delAA 2 0 188 76 FANCM 12 c.2160+31T>C 1 0 186 77 FANCM 12 c.2160+36C>G 1 0 186 78 FANCM 15 c.4317+35A>G 1 0 187 79 FANCM 17 c.4515+108T>A 4 0 188 80 FANCN 3 c.212-64A>T 1 0 186 81 FANCN 3 c.212-58A>C 12 0 186 82 FANCN 6 c.2587-38C>G 1 0 187 83 FANCN 6 c.2587-26T>C 1 0 187 84 FANCN 9 c.2996+17T>C 1 1 184 24 Supplementary Table 10: Continued NO. Gene Intron Nucleotide Change 85 FANCN 11 c.3201+53G>A 1 0 186 86 FANCN 11 c.3201+95C>T 12 1 186 87 FANCN 12 c.3350+94T>A 6 0 185 1Because Heterozygote Homozygote Total Samples the FANCB gene is located at X chromosome, male carriers of the mutated allele represents like homozygotes while they are hemizygote. Number in the bracket indicates the number of males with the mutated allele.
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