Variant |
Chrom |
Position |
RSID |
Reference |
Alternate |
Consequence |
Protein Consequence |
Transcript Consequence |
Filter |
Annotation |
Flags |
Allele Count |
Allele Number |
Miao AF |
Yao AF |
Dong AF |
Bouyei AF |
Gelao AF |
Zhuang AF |
Sui AF |
Yi AF |
Bai AF |
Tujia AF |
Hui AF |
Allele Frequency
|
Heterozygote Number |
Homozygote Number |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
17:43039598 T / C (rs3024295) | 17 | 43039598 | rs3024295 | T | C | PASS | downstream gene | 166 | 948 | 0.117 | 0.35 | 0.175 | 0.3056 | 0.1538 | 0.25 | 0.1375 | 0.125 | 0.1667 | 0.0897 | 0.1375 | 0.1751 | 120 | 23 | ||||
17:43039628 A / C (rs1309334815) | 17 | 43039628 | rs1309334815 | A | C | PASS | downstream gene | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.001055 | 1 | 0 | ||||
17:43039629 G / C (rs1355491757) | 17 | 43039629 | rs1355491757 | G | C | PASS | downstream gene | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.001055 | 1 | 0 | ||||
17:43039645 G / C (rs3024294) | 17 | 43039645 | rs3024294 | G | C | PASS | downstream gene | 14 | 946 | 0.0053 | 0.0333 | 0 | 0.0093 | 0.0128 | 0.0167 | 0 | 0.025 | 0.0333 | 0 | 0.05 | 0.01480 | 14 | 0 | ||||
17:43039718 T / A (rs3024293) | 17 | 43039718 | rs3024293 | T | A | PASS | downstream gene | 347 | 936 | 0.2606 | 0.3 | 0.4 | 0.4259 | 0.3077 | 0.4167 | 0.325 | 0.525 | 0.2833 | 0.4231 | 0.4375 | 0.3707 | 171 | 88 | ||||
17:43039934 G / GA (rs199617700) | 17 | 43039934 | rs199617700 | G | GA | PASS | downstream gene | 40 | 944 | 0.0745 | 0.0667 | 0.0375 | 0.0093 | 0.0897 | 0.05 | 0.025 | 0 | 0.0333 | 0.0385 | 0.0125 | 0.04237 | 36 | 2 | ||||
17:43040094 T / A (rs3024291) | 17 | 43040094 | rs3024291 | T | A | PASS | downstream gene | 173 | 938 | 0.0957 | 0.2667 | 0.1375 | 0.287 | 0.1795 | 0.2833 | 0.1875 | 0.1875 | 0.2167 | 0.0769 | 0.2125 | 0.1844 | 127 | 23 | ||||
17:43040381 T / C (rs3024287) | 17 | 43040381 | rs3024287 | T | C | PASS | downstream gene | 205 | 934 | 0.2074 | 0.0333 | 0.225 | 0.1852 | 0.1538 | 0.25 | 0.1125 | 0.325 | 0.1 | 0.3974 | 0.3375 | 0.2195 | 121 | 42 | ||||
17:43040414 G / A (rs3024286) | 17 | 43040414 | rs3024286 | G | A | PASS | downstream gene | 46 | 944 | 0.0585 | 0.05 | 0.025 | 0.0463 | 0.0385 | 0.0667 | 0.025 | 0.025 | 0.0167 | 0.0769 | 0.0875 | 0.04873 | 36 | 5 | ||||
17:43040558 G / A (rs3024285) | 17 | 43040558 | rs3024285 | G | A | PASS | downstream gene | 182 | 922 | 0.133 | 0.3667 | 0.175 | 0.2778 | 0.1667 | 0.2833 | 0.1625 | 0.175 | 0.1833 | 0.0769 | 0.2125 | 0.1974 | 132 | 25 | ||||
17:43040589 C / T (rs1490094815) | 17 | 43040589 | rs1490094815 | C | T | PASS | downstream gene | 2 | 946 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.025 | 0.002114 | 2 | 0 | ||||
17:43040728 T / C (rs375354966) | 17 | 43040728 | rs375354966 | T | C | PASS | downstream gene | 2 | 946 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.002114 | 2 | 0 | ||||
17:43040777 A / C (rs3024303) | 17 | 43040777 | rs3024303 | A | C | PASS | downstream gene | 11 | 946 | 0.0106 | 0 | 0.0125 | 0.0093 | 0.0128 | 0.05 | 0.0125 | 0 | 0 | 0.0256 | 0 | 0.01163 | 11 | 0 | ||||
17:43040957 TG / T | 17 | 43040957 | chr17_43040957_TG_T | TG | T | PASS | downstream gene | 1 | 944 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001059 | 1 | 0 | ||||
17:43040996 G / T | 17 | 43040996 | chr17_43040996_G_T | G | T | PASS | downstream gene | 1 | 950 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001053 | 1 | 0 | ||||
17:43040999 A / G (rs3024302) | 17 | 43040999 | rs3024302 | A | G | PASS | downstream gene | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001055 | 1 | 0 | ||||
17:43041001 A / T | 17 | 43041001 | chr17_43041001_A_T | A | T | PASS | downstream gene | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001055 | 1 | 0 | ||||
17:43041013 C / T (rs184347260) | 17 | 43041013 | rs184347260 | C | T | PASS | downstream gene | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001055 | 1 | 0 | ||||
17:43041040 C / T (rs150137437) | 17 | 43041040 | rs150137437 | C | T | PASS | downstream gene | 28 | 942 | 0.0851 | 0 | 0.0125 | 0 | 0.0128 | 0.0167 | 0.025 | 0.0375 | 0.05 | 0.0128 | 0 | 0.02972 | 24 | 2 | ||||
17:43041299 C / G (rs138672228) | 17 | 43041299 | rs138672228 | C | G | PASS | downstream gene | 1 | 946 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001057 | 1 | 0 | ||||
17:43041343 C / T (rs3785894) | 17 | 43041343 | rs3785894 | C | T | PASS | downstream gene | 8 | 940 | 0 | 0 | 0.025 | 0.0185 | 0 | 0 | 0 | 0.0125 | 0.0167 | 0 | 0.025 | 0.008511 | 8 | 0 | ||||
17:43041696 G / A (rs1295410400) | 17 | 43041696 | rs1295410400 | G | A | PASS | downstream gene | 1 | 950 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0.001053 | 1 | 0 | ||||
17:43041806 T / C (rs2920452) | 17 | 43041806 | rs2920452 | T | C | PASS | downstream gene | 359 | 928 | 0.2766 | 0.35 | 0.4 | 0.4815 | 0.2692 | 0.5 | 0.325 | 0.475 | 0.35 | 0.4103 | 0.425 | 0.3869 | 173 | 93 | ||||
17:43041954 C / T (rs2981586) | 17 | 43041954 | rs2981586 | C | T | PASS | downstream gene | 335 | 910 | 0.2394 | 0.3 | 0.3 | 0.4352 | 0.2821 | 0.4167 | 0.325 | 0.4875 | 0.3333 | 0.4103 | 0.4625 | 0.3681 | 141 | 97 | ||||
17:43042084 A / T (rs537740800) | 17 | 43042084 | rs537740800 | A | T | PASS | downstream gene | 1 | 938 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.001066 | 1 | 0 | ||||
17:43042090 A / G (rs79839505) | 17 | 43042090 | rs79839505 | A | G | PASS | downstream gene | 12 | 936 | 0.0106 | 0 | 0 | 0 | 0 | 0.0667 | 0 | 0.0125 | 0 | 0.0513 | 0.0125 | 0.01282 | 10 | 1 | ||||
17:43042192 C / T (rs2981585) | 17 | 43042192 | rs2981585 | C | T | PASS | downstream gene | 262 | 778 | 0.1968 | 0.3667 | 0.125 | 0.3519 | 0.2564 | 0.4 | 0.1625 | 0.325 | 0.2667 | 0.359 | 0.35 | 0.3368 | 82 | 90 | ||||
17:43042199 A / ATCTTT (rs111572898) | 17 | 43042199 | rs111572898 | A | ATCTTT | PASS | downstream gene | 189 | 858 | 0.1277 | 0.2667 | 0.1375 | 0.2778 | 0.1795 | 0.3 | 0.1625 | 0.15 | 0.2333 | 0.2436 | 0.225 | 0.2203 | 53 | 68 | ||||
17:43042333 T / C (rs8080524) | 17 | 43042333 | rs8080524 | T | C | PASS | downstream gene | 304 | 872 | 0.2606 | 0.35 | 0.2875 | 0.3426 | 0.2692 | 0.4 | 0.2375 | 0.3875 | 0.2667 | 0.3462 | 0.45 | 0.3486 | 98 | 103 | ||||
17:43043010 C / G (rs3024277) | 17 | 43043010 | rs3024277 | C | G | PASS | downstream gene | 48 | 948 | 0.0213 | 0.0333 | 0.05 | 0.1019 | 0.0769 | 0.1167 | 0.025 | 0.0125 | 0.05 | 0.0128 | 0.0875 | 0.05063 | 44 | 2 | ||||
17:43043072 C / T (rs186120287) | 17 | 43043072 | rs186120287 | C | T | PASS | downstream gene | 1 | 946 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.001057 | 1 | 0 | ||||
17:43043353 G / C (rs3024275) | 17 | 43043353 | rs3024275 | G | C | PASS | downstream gene | 156 | 942 | 0.133 | 0 | 0.15 | 0.1389 | 0.141 | 0.2167 | 0.1 | 0.3125 | 0.1333 | 0.2564 | 0.2375 | 0.1656 | 102 | 27 | ||||
17:43043382 C / T (rs3024274) | 17 | 43043382 | rs3024274 | C | T | PASS | downstream gene | 5 | 944 | 0 | 0 | 0.025 | 0.0185 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0.005297 | 5 | 0 | ||||
17:43044560 T / C (rs1438873144) | 17 | 43044560 | rs1438873144 | T | C | c.*1118A>G | PASS | 3' UTR | 1 | 944 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.001059 | 1 | 0 | |||
17:43044674 C / T (rs530619406) | 17 | 43044674 | rs530619406 | C | T | c.*1004G>A | PASS | 3' UTR | 1 | 942 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0.001062 | 1 | 0 | |||
17:43044680 G / A (rs3024272) | 17 | 43044680 | rs3024272 | G | A | c.*998C>T | PASS | 3' UTR | 13 | 938 | 0.0053 | 0.0167 | 0 | 0.0093 | 0 | 0.0167 | 0.025 | 0.025 | 0.0167 | 0 | 0.05 | 0.01386 | 13 | 0 | |||
17:43046408 G / C | 17 | 43046408 | chr17_43046408_G_C | G | C | c.5531-606C>G | PASS | intron | 1 | 914 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0.001094 | 1 | 0 | |||
17:43046743 C / T (rs928748326) | 17 | 43046743 | rs928748326 | C | T | c.5530+900G>A | PASS | intron | 2 | 928 | 0 | 0 | 0 | 0 | 0 | 0.0333 | 0 | 0 | 0 | 0 | 0 | 0.002155 | 2 | 0 | |||
17:43046981 C / G (rs2920453) | 17 | 43046981 | rs2920453 | C | G | c.5530+662G>C | PASS | intron | 370 | 902 | 0.3564 | 0.3167 | 0.3 | 0.5 | 0.3077 | 0.5333 | 0.3 | 0.425 | 0.3667 | 0.3846 | 0.5 | 0.4102 | 144 | 113 | |||
17:43047028 C / T (rs146728024) | 17 | 43047028 | rs146728024 | C | T | c.5530+615G>A | PASS | intron | 3 | 940 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.003191 | 3 | 0 | |||
17:43047060 T / C (rs1012124353) | 17 | 43047060 | rs1012124353 | T | C | c.5530+583A>G | PASS | intron | 1 | 938 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001066 | 1 | 0 | |||
17:43047083 G / A (rs3760381) | 17 | 43047083 | rs3760381 | G | A | c.5530+560C>T | PASS | intron | 67 | 938 | 0.0266 | 0.0667 | 0.125 | 0.0741 | 0.0897 | 0.15 | 0.075 | 0.05 | 0.0667 | 0.0128 | 0.1125 | 0.07143 | 49 | 9 | |||
17:43047299 C / T (rs76735787) | 17 | 43047299 | rs76735787 | C | T | c.5530+344G>A | PASS | intron | 14 | 948 | 0.0053 | 0 | 0.0125 | 0.0278 | 0.0256 | 0.05 | 0.0125 | 0 | 0 | 0.0385 | 0 | 0.01477 | 10 | 2 | |||
17:43047534 A / G (rs117324605) | 17 | 43047534 | rs117324605 | A | G | c.5530+109T>C | PASS | intron | 11 | 924 | 0 | 0 | 0.0125 | 0.0185 | 0.0128 | 0.05 | 0.0125 | 0 | 0 | 0.0385 | 0 | 0.01190 | 9 | 1 | |||
17:43047574 C / T (rs1225911977) | 17 | 43047574 | rs1225911977 | C | T | c.5530+69G>A | PASS | intron | 2 | 932 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.025 | 0.002146 | 2 | 0 | |||
17:43048374 C / T (rs12601410) | 17 | 43048374 | rs12601410 | C | T | c.5470-671G>A | PASS | intron | 264 | 872 | 0.3191 | 0.2 | 0.2375 | 0.3519 | 0.1667 | 0.2167 | 0.15 | 0.4 | 0.2833 | 0.2949 | 0.3125 | 0.3028 | 102 | 81 | |||
17:43048535 G / A (rs562346070) | 17 | 43048535 | rs562346070 | G | A | c.5469+586C>T | PASS | intron | 9 | 938 | 0.016 | 0.0667 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0.0128 | 0 | 0.009595 | 7 | 1 | |||
17:43048632 G / A (rs906536092) | 17 | 43048632 | rs906536092 | G | A | c.5469+489C>T | PASS | intron | 3 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0375 | 0 | 0 | 0 | 0 | 0.003165 | 1 | 1 | |||
17:43049111 G / A (rs573566724) | 17 | 43049111 | rs573566724 | G | A | c.5469+10C>T | PASS | intron | 2 | 936 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.002137 | 2 | 0 | |||
17:43049319 C / T (rs79553250) | 17 | 43049319 | rs79553250 | C | T | c.5396-125G>A | PASS | intron | 15 | 940 | 0.0053 | 0.0167 | 0 | 0 | 0.0128 | 0.0167 | 0.025 | 0.025 | 0.0333 | 0 | 0.0625 | 0.01596 | 15 | 0 | |||
17:43049744 G / C (rs887520952) | 17 | 43049744 | rs887520952 | G | C | c.5396-550C>G | PASS | intron | 2 | 936 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0.0167 | 0 | 0 | 0.002137 | 2 | 0 | |||
17:43050253 A / AC (rs1357510697) | 17 | 43050253 | rs1357510697 | A | AC | c.5395+809dup | PASS | intron | 5 | 932 | 0.0053 | 0 | 0 | 0 | 0 | 0.0333 | 0 | 0 | 0 | 0 | 0.025 | 0.005365 | 5 | 0 | |||
17:43050846 G / A | 17 | 43050846 | chr17_43050846_G_A | G | A | c.5395+217C>T | PASS | intron | 1 | 946 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001057 | 1 | 0 | |||
17:43051114 CAAT / C (rs761909747) | 17 | 43051114 | rs761909747 | CAAT | C | p.Ile1781del | p.Ile1781del | c.5341_5343del | PASS | inframe deletion | 1 | 944 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001059 | 1 | 0 | |
17:43051129 T / G (rs72828832) | 17 | 43051129 | rs72828832 | T | G | c.5341-12A>C | PASS | intron | 152 | 928 | 0.1436 | 0.0167 | 0.2 | 0.1204 | 0.1154 | 0.15 | 0.1125 | 0.25 | 0.1 | 0.2564 | 0.275 | 0.1638 | 97 | 27 | |||
17:43051273 C / T (rs529755878) | 17 | 43051273 | rs529755878 | C | T | c.5341-156G>A | PASS | intron | 1 | 950 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001053 | 1 | 0 | |||
17:43051319 T / C (rs28521076) | 17 | 43051319 | rs28521076 | T | C | c.5341-202A>G | PASS | intron | 147 | 924 | 0.1649 | 0 | 0.0875 | 0.1481 | 0.1026 | 0.1333 | 0.1375 | 0.25 | 0.1667 | 0.2436 | 0.2125 | 0.1591 | 89 | 29 | |||
17:43051345 T / C (rs9908256) | 17 | 43051345 | rs9908256 | T | C | c.5341-228A>G | PASS | intron | 389 | 922 | 0.383 | 0.3333 | 0.3625 | 0.4444 | 0.3718 | 0.4667 | 0.3625 | 0.5 | 0.35 | 0.4487 | 0.475 | 0.4219 | 160 | 114 | |||
17:43051353 T / C (rs538995219) | 17 | 43051353 | rs538995219 | T | C | c.5341-236A>G | PASS | intron | 6 | 946 | 0 | 0 | 0.025 | 0.0093 | 0.0128 | 0.0167 | 0 | 0 | 0.0167 | 0 | 0 | 0.006342 | 6 | 0 | |||
17:43051448 C / T | 17 | 43051448 | chr17_43051448_C_T | C | T | c.5341-331G>A | PASS | intron | 1 | 950 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001053 | 1 | 0 | |||
17:43051457 G / C (rs1266036446) | 17 | 43051457 | rs1266036446 | G | C | c.5341-340C>G | PASS | intron | 1 | 946 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001057 | 1 | 0 | |||
17:43051615 C / T (rs144092900) | 17 | 43051615 | rs144092900 | C | T | c.5341-498G>A | PASS | intron | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0.001055 | 1 | 0 | |||
17:43051873 T / C (rs8075046) | 17 | 43051873 | rs8075046 | T | C | c.5341-756A>G | PASS | intron | 218 | 792 | 0.2394 | 0.1667 | 0.3 | 0.3056 | 0.1795 | 0.2333 | 0.15 | 0.25 | 0.15 | 0.2051 | 0.2625 | 0.2753 | 66 | 76 | |||
17:43051893 G / A (rs547704129) | 17 | 43051893 | rs547704129 | G | A | c.5341-776C>T | PASS | intron | 8 | 916 | 0 | 0 | 0 | 0.0278 | 0.0513 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.008734 | 2 | 3 | |||
17:43051989 C / CAAAA (rs1193112282) | 17 | 43051989 | rs1193112282 | C | CAAAA | c.5341-876_5341-873dup | PASS | intron | 9 | 468 | 0.0213 | 0 | 0 | 0.0278 | 0 | 0 | 0 | 0 | 0 | 0 | 0.025 | 0.01923 | 5 | 7 | |||
17:43051989 C / CA (rs1193112282) | 17 | 43051989 | rs1193112282 | C | CA | c.5341-876_5341-873dup | PASS | intron | 10 | 468 | 0.0213 | 0 | 0 | 0.0278 | 0 | 0 | 0 | 0 | 0 | 0 | 0.025 | 0.02137 | 5 | 7 | |||
17:43052365 C / T (rs73986434) | 17 | 43052365 | rs73986434 | C | T | c.5341-1248G>A | PASS | intron | 15 | 946 | 0.016 | 0 | 0.0125 | 0.0185 | 0.0128 | 0.05 | 0.025 | 0 | 0 | 0.0385 | 0 | 0.01586 | 13 | 1 | |||
17:43052570 C / T (rs537495192) | 17 | 43052570 | rs537495192 | C | T | c.5341-1453G>A | PASS | intron | 5 | 944 | 0 | 0 | 0 | 0 | 0.0128 | 0.0167 | 0.0125 | 0 | 0.0333 | 0 | 0 | 0.005297 | 5 | 0 | |||
17:43053038 T / A | 17 | 43053038 | chr17_43053038_T_A | T | A | c.5341-1921A>T | PASS | intron | 1 | 936 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001068 | 1 | 0 | |||
17:43053100 A / G (rs1008225440) | 17 | 43053100 | rs1008225440 | A | G | c.5341-1983T>C | PASS | intron | 1 | 944 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.001059 | 1 | 0 | |||
17:43053141 G / A (rs112982795) | 17 | 43053141 | rs112982795 | G | A | c.5341-2024C>T | PASS | intron | 42 | 934 | 0.0213 | 0 | 0.0875 | 0.0741 | 0.0641 | 0.1167 | 0.0375 | 0 | 0.0333 | 0.0128 | 0.0625 | 0.04497 | 36 | 3 | |||
17:43053525 C / G | 17 | 43053525 | chr17_43053525_C_G | C | G | c.5341-2408G>C | PASS | intron | 1 | 944 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001059 | 1 | 0 | |||
17:43053546 C / T (rs947579172) | 17 | 43053546 | rs947579172 | C | T | c.5341-2429G>A | PASS | intron | 5 | 942 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.025 | 0 | 0.0256 | 0 | 0.005308 | 1 | 2 | |||
17:43053549 T / A (rs9896835) | 17 | 43053549 | rs9896835 | T | A | c.5341-2432A>T | PASS | intron | 180 | 914 | 0.2074 | 0.35 | 0.1625 | 0.2315 | 0.1795 | 0.25 | 0.1375 | 0.175 | 0.1 | 0.0897 | 0.1875 | 0.1969 | 104 | 38 | |||
17:43053568 C / A (rs189894122) | 17 | 43053568 | rs189894122 | C | A | c.5341-2451G>T | PASS | intron | 2 | 938 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.002132 | 2 | 0 | |||
17:43053662 G / C | 17 | 43053662 | chr17_43053662_G_C | G | C | c.5341-2545C>G | PASS | intron | 2 | 936 | 0 | 0 | 0.025 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.002137 | 2 | 0 | |||
17:43054367 G / A | 17 | 43054367 | chr17_43054367_G_A | G | A | c.5340+2685C>T | PASS | intron | 1 | 940 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0.001064 | 1 | 0 | |||
17:43054542 T / A (rs1367401660) | 17 | 43054542 | rs1367401660 | T | A | c.5340+2510A>T | PASS | intron | 1 | 946 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001057 | 1 | 0 | |||
17:43054645 GT / G (rs145006591) | 17 | 43054645 | rs145006591 | GT | G | c.5340+2406del | PASS | intron | 131 | 946 | 0.1755 | 0.1667 | 0.1125 | 0.1389 | 0.1154 | 0.1333 | 0.1625 | 0.1125 | 0.15 | 0.0897 | 0.1125 | 0.1385 | 95 | 18 | |||
17:43054999 C / T (rs1054095798) | 17 | 43054999 | rs1054095798 | C | T | c.5340+2053G>A | PASS | intron | 1 | 934 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001071 | 1 | 0 | |||
17:43055039 A / G (rs894685) | 17 | 43055039 | rs894685 | A | G | c.5340+2013T>C | PASS | intron | 280 | 910 | 0.367 | 0.5 | 0.2875 | 0.2593 | 0.2821 | 0.1833 | 0.225 | 0.3 | 0.2833 | 0.2179 | 0.2625 | 0.3077 | 144 | 68 | |||
17:43055063 A / C (rs562183633) | 17 | 43055063 | rs562183633 | A | C | c.5340+1989T>G | PASS | intron | 1 | 938 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001066 | 1 | 0 | |||
17:43055579 C / A (rs11652522) | 17 | 43055579 | rs11652522 | C | A | c.5340+1473G>T | PASS | intron | 76 | 946 | 0.1702 | 0.1833 | 0.075 | 0.0648 | 0.0513 | 0.1167 | 0.0125 | 0 | 0.0167 | 0.0641 | 0.025 | 0.08034 | 54 | 11 | |||
17:43055617 T / G (rs189169235) | 17 | 43055617 | rs189169235 | T | G | c.5340+1435A>C | PASS | intron | 3 | 944 | 0 | 0 | 0 | 0.0093 | 0 | 0.0167 | 0 | 0 | 0.0167 | 0 | 0 | 0.003178 | 3 | 0 | |||
17:43055664 C / A (rs79732849) | 17 | 43055664 | rs79732849 | C | A | c.5340+1388G>T | PASS | intron | 6 | 944 | 0.0106 | 0.0167 | 0.0375 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.006356 | 6 | 0 | |||
17:43055677 G / C (rs374057196) | 17 | 43055677 | rs374057196 | G | C | c.5340+1375C>G | PASS | intron | 6 | 944 | 0 | 0 | 0.0125 | 0.0185 | 0.0128 | 0 | 0.025 | 0 | 0 | 0 | 0 | 0.006356 | 6 | 0 | |||
17:43055696 C / T | 17 | 43055696 | chr17_43055696_C_T | C | T | c.5340+1356G>A | PASS | intron | 2 | 948 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.002110 | 2 | 0 | |||
17:43055718 T / C (rs8077267) | 17 | 43055718 | rs8077267 | T | C | c.5340+1334A>G | PASS | intron | 479 | 926 | 0.6117 | 0.2833 | 0.4625 | 0.4444 | 0.5641 | 0.4 | 0.35 | 0.65 | 0.5167 | 0.4744 | 0.575 | 0.5173 | 185 | 147 | |||
17:43055924 G / C (rs571358986) | 17 | 43055924 | rs571358986 | G | C | c.5340+1128C>G | PASS | intron | 1 | 944 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001059 | 1 | 0 | |||
17:43055925 C / T (rs538775985) | 17 | 43055925 | rs538775985 | C | T | c.5340+1127G>A | PASS | intron | 1 | 944 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001059 | 1 | 0 | |||
17:43056044 C / T (rs117321341) | 17 | 43056044 | rs117321341 | C | T | c.5340+1008G>A | PASS | intron | 2 | 940 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0256 | 0 | 0.002128 | 2 | 0 | |||
17:43056131 T / C (rs545109494) | 17 | 43056131 | rs545109494 | T | C | c.5340+921A>G | PASS | intron | 1 | 950 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0.001053 | 1 | 0 | |||
17:43056792 G / GA (rs528175433) | 17 | 43056792 | rs528175433 | G | GA | c.5340+259dup | PASS | intron | 41 | 922 | 0.0532 | 0.0167 | 0.025 | 0.0648 | 0.0513 | 0 | 0.075 | 0.075 | 0.0167 | 0.0256 | 0.025 | 0.04447 | 47 | 1 | |||
17:43056792 GA / G (rs528175433) | 17 | 43056792 | rs528175433 | GA | G | c.5340+259dup | PASS | intron | 9 | 922 | 0.0532 | 0.0167 | 0.025 | 0.0648 | 0.0513 | 0 | 0.075 | 0.075 | 0.0167 | 0.0256 | 0.025 | 0.009761 | 47 | 1 | |||
17:43056806 A / C (rs189529934) | 17 | 43056806 | rs189529934 | A | C | c.5340+246T>G | PASS | intron | 3 | 936 | 0.0053 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.003205 | 3 | 0 | |||
17:43056963 AAGACATACTCGAGCACTTT... / A | 17 | 43056963 | chr17_43056963_AAGACATACTCGAGCACTTTAGGCCAACC_A | AAGACATACTCGAGCACTTTAGGCCAACC | A | c.5340+61_5340+88del | PASS | intron | 1 | 950 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001053 | 1 | 0 | |||
17:43057555 TACTC / T (rs548918078) | 17 | 43057555 | rs548918078 | TACTC | T | c.5257-424_5257-421del | PASS | intron | 2 | 942 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.002123 | 2 | 0 | |||
17:43057585 C / T (rs11871217) | 17 | 43057585 | rs11871217 | C | T | c.5257-450G>A | PASS | intron | 359 | 888 | 0.3564 | 0.8 | 0.3375 | 0.4444 | 0.3846 | 0.3333 | 0.3125 | 0.2875 | 0.4 | 0.2949 | 0.3 | 0.4043 | 123 | 118 | |||
17:43057806 G / A (rs200785391) | 17 | 43057806 | rs200785391 | G | A | c.5257-671C>T | PASS | intron | 2 | 934 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0256 | 0 | 0.002141 | 2 | 0 | |||
17:43057954 G / A (rs78910478) | 17 | 43057954 | rs78910478 | G | A | c.5257-819C>T | PASS | intron | 31 | 420 | 0.0745 | 0 | 0.025 | 0 | 0.0513 | 0 | 0 | 0.025 | 0 | 0.0641 | 0.05 | 0.07381 | 1 | 15 | |||
17:43058274 G / A (rs985412458) | 17 | 43058274 | rs985412458 | G | A | c.5257-1139C>T | PASS | intron | 3 | 944 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.003178 | 1 | 1 | |||
17:43058445 AACC / A (rs1410794424) | 17 | 43058445 | rs1410794424 | AACC | A | c.5257-1313_5257-1311del | PASS | intron | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.001055 | 1 | 0 | |||
17:43058648 A / G | 17 | 43058648 | chr17_43058648_A_G | A | G | c.5257-1513T>C | PASS | intron | 1 | 950 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.001053 | 1 | 0 | |||
17:43058742 T / C (rs6503409) | 17 | 43058742 | rs6503409 | T | C | c.5257-1607A>G | PASS | intron | 812 | 942 | 0.883 | 0.9667 | 0.85 | 0.8148 | 0.8462 | 0.6667 | 0.8375 | 0.9 | 0.8167 | 0.8846 | 0.8625 | 0.8620 | 88 | 362 | |||
17:43059071 G / A (rs962888) | 17 | 43059071 | rs962888 | G | A | c.5257-1936C>T | PASS | intron | 269 | 926 | 0.2394 | 0.0833 | 0.3375 | 0.213 | 0.2821 | 0.2333 | 0.4 | 0.4375 | 0.2167 | 0.2949 | 0.375 | 0.2905 | 143 | 63 | |||
17:43059301 C / T (rs182905728) | 17 | 43059301 | rs182905728 | C | T | c.5257-2166G>A | PASS | intron | 3 | 950 | 0 | 0 | 0 | 0.0185 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0.003158 | 3 | 0 | |||
17:43059638 G / T (rs45484397) | 17 | 43059638 | rs45484397 | G | T | c.5257-2503C>A | PASS | intron | 178 | 814 | 0.1383 | 0.0167 | 0.2625 | 0.1667 | 0.2179 | 0.1667 | 0.15 | 0.2 | 0.1167 | 0.2308 | 0.4 | 0.2187 | 68 | 55 | |||
17:43059703 GAGGTGGTGGTGGTAATGAT... / * | 17 | 43059703 | chr17_43059703_GAGGTGGTGGTGGTAATGATATTGGTGGTGGTGATGGAGA_*,AAGGTGGTGGTGGTAATGATATTGGTGGTGGTGATGGAGA | GAGGTGGTGGTGGTAATGATATTGGTGGTGGTGATGGAGA | * | c.5257-2568delinsT | PASS | intron | 33 | 706 | 0.0479 | 0.0333 | 0.0125 | 0.037 | 0.0256 | 0 | 0.0125 | 0.0375 | 0.0667 | 0.0256 | 0.0625 | 0.04674 | 45 | 28 | |||
17:43059703 G / A | 17 | 43059703 | chr17_43059703_GAGGTGGTGGTGGTAATGATATTGGTGGTGGTGATGGAGA_*,AAGGTGGTGGTGGTAATGATATTGGTGGTGGTGATGGAGA | G | A | c.5257-2568delinsT | PASS | intron | 68 | 706 | 0.0479 | 0.0333 | 0.0125 | 0.037 | 0.0256 | 0 | 0.0125 | 0.0375 | 0.0667 | 0.0256 | 0.0625 | 0.09632 | 45 | 28 | |||
17:43060158 G / C (rs60755906) | 17 | 43060158 | rs60755906 | G | C | c.5257-3023C>G | PASS | intron | 229 | 780 | 0.2234 | 0.15 | 0.2625 | 0.2407 | 0.2564 | 0.0667 | 0.1375 | 0.4875 | 0.3167 | 0.1667 | 0.3125 | 0.2936 | 75 | 77 | |||
17:43060255 C / T (rs62065775) | 17 | 43060255 | rs62065775 | C | T | c.5256+3078G>A | PASS | intron | 87 | 896 | 0.0745 | 0.0333 | 0.0375 | 0.0833 | 0.0769 | 0.1667 | 0.15 | 0 | 0.1667 | 0.0897 | 0.175 | 0.09710 | 59 | 14 | |||
17:43060669 G / A (rs150650534) | 17 | 43060669 | rs150650534 | G | A | c.5256+2664C>T | PASS | intron | 14 | 938 | 0.0106 | 0 | 0 | 0.0278 | 0 | 0 | 0.025 | 0.025 | 0 | 0.0256 | 0.0375 | 0.01493 | 14 | 0 | |||
17:43060733 T / C (rs78605956) | 17 | 43060733 | rs78605956 | T | C | c.5256+2600A>G | PASS | intron | 59 | 948 | 0.0426 | 0.05 | 0.0375 | 0.1111 | 0.1154 | 0.05 | 0.0375 | 0.0375 | 0.05 | 0.1026 | 0.05 | 0.06224 | 57 | 1 | |||
17:43060752 C / T | 17 | 43060752 | chr17_43060752_C_T | C | T | c.5256+2581G>A | PASS | intron | 1 | 942 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001062 | 1 | 0 | |||
17:43060768 T / G (rs75193889) | 17 | 43060768 | rs75193889 | T | G | c.5256+2565A>C | PASS | intron | 55 | 948 | 0.1702 | 0.1833 | 0.025 | 0.0185 | 0.0513 | 0.05 | 0 | 0 | 0 | 0 | 0.0125 | 0.05802 | 33 | 11 | |||
17:43060927 C / T (rs149309425) | 17 | 43060927 | rs149309425 | C | T | c.5256+2406G>A | PASS | intron | 2 | 940 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0.0125 | 0.002128 | 2 | 0 | |||
17:43060928 G / C (rs75435996) | 17 | 43060928 | rs75435996 | G | C | c.5256+2405C>G | PASS | intron | 48 | 936 | 0.0426 | 0.0333 | 0.025 | 0.1019 | 0.0641 | 0.0667 | 0.025 | 0.0375 | 0.0333 | 0.0897 | 0.025 | 0.05128 | 44 | 2 | |||
17:43061313 CA / C (rs1252137299) | 17 | 43061313 | rs1252137299 | CA | C | c.5256+2019del | PASS | intron | 71 | 546 | 0.1117 | 0.0333 | 0.075 | 0.037 | 0.1026 | 0 | 0.05 | 0.05 | 0 | 0.0513 | 0.225 | 0.1300 | 33 | 70 | |||
17:43061313 CAAAAAAAAAAA / C (rs1252137299) | 17 | 43061313 | rs1252137299 | CAAAAAAAAAAA | C | c.5256+2019del | PASS | intron | 64 | 546 | 0.1117 | 0.0333 | 0.075 | 0.037 | 0.1026 | 0 | 0.05 | 0.05 | 0 | 0.0513 | 0.225 | 0.1172 | 33 | 70 | |||
17:43061313 CAAAAAAAA / C (rs1252137299) | 17 | 43061313 | rs1252137299 | CAAAAAAAA | C | c.5256+2019del | PASS | intron | 24 | 546 | 0.1117 | 0.0333 | 0.075 | 0.037 | 0.1026 | 0 | 0.05 | 0.05 | 0 | 0.0513 | 0.225 | 0.04396 | 33 | 70 | |||
17:43061313 CAAAA / C (rs1252137299) | 17 | 43061313 | rs1252137299 | CAAAA | C | c.5256+2019del | PASS | intron | 15 | 546 | 0.1117 | 0.0333 | 0.075 | 0.037 | 0.1026 | 0 | 0.05 | 0.05 | 0 | 0.0513 | 0.225 | 0.02747 | 33 | 70 | |||
17:43063006 A / T (rs118095207) | 17 | 43063006 | rs118095207 | A | T | c.5256+327T>A | PASS | intron | 46 | 932 | 0.0479 | 0.0167 | 0.05 | 0.1111 | 0.0641 | 0.05 | 0.0125 | 0.025 | 0.0167 | 0.0769 | 0.025 | 0.04936 | 44 | 1 | |||
17:43063160 A / G (rs79225888) | 17 | 43063160 | rs79225888 | A | G | c.5256+173T>C | PASS | intron | 22 | 942 | 0.0106 | 0 | 0.0125 | 0.037 | 0.0513 | 0.0167 | 0 | 0 | 0.0167 | 0.0256 | 0.0875 | 0.02335 | 18 | 2 | |||
17:43063370 G / A | 17 | 43063370 | chr17_43063370_G_A | G | A | p.Ala1740Val | p.Ala1740Val | c.5219C>T | PASS | missense | 1 | 946 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001057 | 1 | 0 | |
17:43063494 T / C (rs77969340) | 17 | 43063494 | rs77969340 | T | C | c.5216-121A>G | PASS | intron | 49 | 920 | 0.0426 | 0.0833 | 0.025 | 0.0648 | 0.0897 | 0.0167 | 0.025 | 0.0375 | 0.05 | 0.0897 | 0.05 | 0.05326 | 41 | 4 | |||
17:43063526 A / C (rs117249739) | 17 | 43063526 | rs117249739 | A | C | c.5216-153T>G | PASS | intron | 46 | 904 | 0.0426 | 0.0667 | 0.025 | 0.0741 | 0.1026 | 0.0167 | 0.0125 | 0.0375 | 0.0333 | 0.0897 | 0.025 | 0.05088 | 36 | 5 | |||
17:43063653 GTTT / G (rs1290322347) | 17 | 43063653 | rs1290322347 | GTTT | G | c.5215+218_5215+220del | PASS | intron | 18 | 424 | 0.0266 | 0.0333 | 0.025 | 0.0278 | 0.0256 | 0 | 0 | 0 | 0 | 0 | 0.05 | 0.04245 | 23 | 40 | |||
17:43063653 GTT / G (rs1290322347) | 17 | 43063653 | rs1290322347 | GTT | G | c.5215+218_5215+220del | PASS | intron | 68 | 424 | 0.0266 | 0.0333 | 0.025 | 0.0278 | 0.0256 | 0 | 0 | 0 | 0 | 0 | 0.05 | 0.1604 | 23 | 40 | |||
17:43063653 GT / G (rs1290322347) | 17 | 43063653 | rs1290322347 | GT | G | c.5215+218_5215+220del | PASS | intron | 21 | 424 | 0.0266 | 0.0333 | 0.025 | 0.0278 | 0.0256 | 0 | 0 | 0 | 0 | 0 | 0.05 | 0.04953 | 23 | 40 | |||
17:43063653 G / GTTTT (rs1290322347) | 17 | 43063653 | rs1290322347 | G | GTTTT | c.5215+218_5215+220del | PASS | intron | 3 | 424 | 0.0266 | 0.0333 | 0.025 | 0.0278 | 0.0256 | 0 | 0 | 0 | 0 | 0 | 0.05 | 0.007075 | 23 | 40 | |||
17:43063984 T / TAA (rs57359892) | 17 | 43063984 | rs57359892 | T | TAA | c.5138-35_5138-34dup | PASS | intron | 143 | 928 | 0.133 | 0.1 | 0.1125 | 0.1852 | 0.1795 | 0.2167 | 0.1375 | 0.1 | 0.2167 | 0.1923 | 0.1125 | 0.1541 | 87 | 28 | |||
17:43064070 A / T (rs8069476) | 17 | 43064070 | rs8069476 | A | T | c.5138-119T>A | PASS | intron | 59 | 946 | 0.0532 | 0.0667 | 0.0375 | 0.0926 | 0.141 | 0.0667 | 0.025 | 0.0375 | 0.05 | 0.0641 | 0.05 | 0.06237 | 55 | 2 | |||
17:43064128 T / C (rs75313854) | 17 | 43064128 | rs75313854 | T | C | c.5138-177A>G | PASS | intron | 5 | 944 | 0.0106 | 0 | 0.0125 | 0.0093 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.005297 | 3 | 1 | |||
17:43064174 G / C (rs58334749) | 17 | 43064174 | rs58334749 | G | C | c.5138-223C>G | PASS | intron | 66 | 932 | 0.0904 | 0.0667 | 0.05 | 0.0185 | 0.0385 | 0.0167 | 0.05 | 0.125 | 0.15 | 0.0897 | 0.0625 | 0.07082 | 38 | 14 | |||
17:43064682 G / A (rs12452976) | 17 | 43064682 | rs12452976 | G | A | c.5138-731C>T | PASS | intron | 46 | 920 | 0.0426 | 0.05 | 0.0375 | 0.1019 | 0.0641 | 0.0333 | 0.0125 | 0.0375 | 0.0167 | 0.0513 | 0.0625 | 0.05000 | 38 | 4 | |||
17:43064781 C / A (rs12453157) | 17 | 43064781 | rs12453157 | C | A | c.5138-830G>T | PASS | intron | 46 | 924 | 0.0532 | 0.0333 | 0.0375 | 0.1019 | 0.0641 | 0.0167 | 0.025 | 0.0125 | 0.0167 | 0.1026 | 0.025 | 0.04978 | 36 | 5 | |||
17:43065107 TAA / T (rs35001880) | 17 | 43065107 | rs35001880 | TAA | T | c.5138-1158_5138-1157del | PASS | intron | 302 | 836 | 0.367 | 0.2833 | 0.4375 | 0.213 | 0.2692 | 0.25 | 0.1875 | 0.35 | 0.3 | 0.359 | 0.4125 | 0.3612 | 86 | 108 | |||
17:43065429 C / G (rs78100311) | 17 | 43065429 | rs78100311 | C | G | c.5138-1478G>C | PASS | intron | 72 | 922 | 0.0851 | 0.0167 | 0.025 | 0.0926 | 0.0641 | 0.1333 | 0.1 | 0.0125 | 0.1167 | 0.0769 | 0.1 | 0.07809 | 54 | 9 | |||
17:43065836 CTTACGAGGCTGGCT / C | 17 | 43065836 | chr17_43065836_CTTACGAGGCTGGCT_C | CTTACGAGGCTGGCT | C | c.5137+1758_5137+1771del | PASS | intron | 1 | 932 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.001073 | 1 | 0 | |||
17:43065962 G / A (rs577427957) | 17 | 43065962 | rs577427957 | G | A | c.5137+1646C>T | PASS | intron | 1 | 918 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001089 | 1 | 0 | |||
17:43066379 C / T (rs372127708) | 17 | 43066379 | rs372127708 | C | T | c.5137+1229G>A | PASS | intron | 1 | 942 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001062 | 1 | 0 | |||
17:43066401 G / A (rs7216432) | 17 | 43066401 | rs7216432 | G | A | c.5137+1207C>T | PASS | intron | 390 | 910 | 0.516 | 0.3667 | 0.4375 | 0.3056 | 0.4231 | 0.2833 | 0.225 | 0.475 | 0.4167 | 0.4231 | 0.4875 | 0.4286 | 156 | 117 | |||
17:43066424 CA / C (rs1255251003) | 17 | 43066424 | rs1255251003 | CA | C | c.5137+1183del | PASS | intron | 427 | 886 | 0.5053 | 0.3667 | 0.425 | 0.3704 | 0.4359 | 0.4333 | 0.3875 | 0.4375 | 0.5167 | 0.4487 | 0.55 | 0.4819 | 172 | 146 | |||
17:43066424 CAA / C (rs1255251003) | 17 | 43066424 | rs1255251003 | CAA | C | c.5137+1183del | PASS | intron | 54 | 886 | 0.5053 | 0.3667 | 0.425 | 0.3704 | 0.4359 | 0.4333 | 0.3875 | 0.4375 | 0.5167 | 0.4487 | 0.55 | 0.06095 | 172 | 146 | |||
17:43066424 CAAA / C (rs1255251003) | 17 | 43066424 | rs1255251003 | CAAA | C | c.5137+1183del | PASS | intron | 3 | 886 | 0.5053 | 0.3667 | 0.425 | 0.3704 | 0.4359 | 0.4333 | 0.3875 | 0.4375 | 0.5167 | 0.4487 | 0.55 | 0.003386 | 172 | 146 | |||
17:43067528 C / G (rs9916632) | 17 | 43067528 | rs9916632 | C | G | c.5137+80G>C | PASS | intron | 568 | 912 | 0.6383 | 0.4167 | 0.5875 | 0.5833 | 0.6667 | 0.6333 | 0.4875 | 0.625 | 0.5 | 0.6026 | 0.7125 | 0.6228 | 140 | 214 | |||
17:43067785 A / T (rs536127415) | 17 | 43067785 | rs536127415 | A | T | c.5050-90T>A | PASS | intron | 3 | 932 | 0 | 0 | 0 | 0 | 0 | 0.0333 | 0.0125 | 0 | 0 | 0 | 0 | 0.003219 | 3 | 0 | |||
17:43068238 C / A (rs150259807) | 17 | 43068238 | rs150259807 | C | A | c.5050-543G>T | PASS | intron | 10 | 936 | 0.0053 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.075 | 0 | 0 | 0.025 | 0.01068 | 6 | 2 | |||
17:43068464 A / G (rs78689795) | 17 | 43068464 | rs78689795 | A | G | c.5050-769T>C | PASS | intron | 4 | 946 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0375 | 0.004228 | 4 | 0 | |||
17:43068547 T / C (rs12601260) | 17 | 43068547 | rs12601260 | T | C | c.5050-852A>G | PASS | intron | 54 | 948 | 0.0372 | 0.05 | 0.0375 | 0.0926 | 0.0897 | 0.0833 | 0.025 | 0.025 | 0.05 | 0.0897 | 0.0625 | 0.05696 | 52 | 1 | |||
17:43068628 G / A (rs9630726) | 17 | 43068628 | rs9630726 | G | A | c.5050-933C>T | PASS | intron | 389 | 888 | 0.5 | 0.3167 | 0.4625 | 0.3519 | 0.4103 | 0.3667 | 0.225 | 0.5125 | 0.3167 | 0.3718 | 0.5 | 0.4381 | 147 | 121 | |||
17:43068919 C / T | 17 | 43068919 | chr17_43068919_C_T | C | T | c.5050-1224G>A | PASS | intron | 1 | 944 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001059 | 1 | 0 | |||
17:43069017 C / A (rs8067281) | 17 | 43069017 | rs8067281 | C | A | c.5050-1322G>T | PASS | intron | 18 | 942 | 0.0106 | 0 | 0.0125 | 0.0185 | 0.0128 | 0.0167 | 0.0625 | 0.025 | 0.0167 | 0 | 0.0375 | 0.01911 | 16 | 1 | |||
17:43069093 C / T (rs1017364916) | 17 | 43069093 | rs1017364916 | C | T | c.5050-1398G>A | PASS | intron | 1 | 946 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001057 | 1 | 0 | |||
17:43069387 C / T (rs73309596) | 17 | 43069387 | rs73309596 | C | T | c.5049+1541G>A | PASS | intron | 48 | 936 | 0.0266 | 0.0167 | 0.0125 | 0.0648 | 0.0769 | 0.0833 | 0.075 | 0.05 | 0.0333 | 0.0897 | 0.05 | 0.05128 | 40 | 4 | |||
17:43069398 G / A (rs138377463) | 17 | 43069398 | rs138377463 | G | A | c.5049+1530C>T | PASS | intron | 32 | 932 | 0.0266 | 0 | 0.0125 | 0.0093 | 0.0385 | 0 | 0.025 | 0.075 | 0.1 | 0.0769 | 0.025 | 0.03433 | 28 | 2 | |||
17:43069817 C / T (rs769512590) | 17 | 43069817 | rs769512590 | C | T | c.5049+1111G>A | PASS | intron | 2 | 948 | 0 | 0 | 0 | 0.0185 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.002110 | 0 | 1 | |||
17:43069842 A / T (rs143670424) | 17 | 43069842 | rs143670424 | A | T | c.5049+1086T>A | PASS | intron | 17 | 950 | 0.0106 | 0 | 0.0125 | 0.0278 | 0 | 0 | 0.05 | 0.025 | 0.0167 | 0 | 0.05 | 0.01789 | 13 | 2 | |||
17:43070257 G / A (rs78252124) | 17 | 43070257 | rs78252124 | G | A | c.5049+671C>T | PASS | intron | 45 | 934 | 0.0426 | 0.0167 | 0.05 | 0.0556 | 0.0897 | 0.0833 | 0.0125 | 0.025 | 0.0333 | 0.0897 | 0.025 | 0.04818 | 35 | 5 | |||
17:43070411 C / T | 17 | 43070411 | chr17_43070411_C_T | C | T | c.5049+517G>A | PASS | intron | 3 | 944 | 0 | 0.05 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.003178 | 3 | 0 | |||
17:43070444 G / A (rs12453401) | 17 | 43070444 | rs12453401 | G | A | c.5049+484C>T | PASS | intron | 41 | 938 | 0.0372 | 0.0333 | 0.0375 | 0.0278 | 0.1026 | 0.0667 | 0 | 0.0375 | 0.0333 | 0.0769 | 0.0375 | 0.04371 | 37 | 2 | |||
17:43070548 C / T (rs12453575) | 17 | 43070548 | rs12453575 | C | T | c.5049+380G>A | PASS | intron | 181 | 874 | 0.3032 | 0.2333 | 0.1 | 0.1481 | 0.1282 | 0.3167 | 0.1625 | 0.075 | 0.2 | 0.141 | 0.1875 | 0.2071 | 85 | 48 | |||
17:43070825 G / A (rs4793174) | 17 | 43070825 | rs4793174 | G | A | c.5049+103C>T | PASS | intron | 140 | 824 | 0.2447 | 0.1333 | 0.075 | 0.0833 | 0.1923 | 0.1833 | 0.1125 | 0.0375 | 0.2167 | 0.1282 | 0.125 | 0.1699 | 60 | 40 | |||
17:43070984 G / T | 17 | 43070984 | chr17_43070984_G_T | G | T | p.Gln1665Lys | p.Gln1665Lys | c.4993C>A | PASS | missense | 1 | 922 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.001085 | 1 | 0 | |
17:43071200 G / A (rs79169230) | 17 | 43071200 | rs79169230 | G | A | p.Pro1593Ser | p.Pro1593Ser | c.4777C>T | PASS | missense | 42 | 924 | 0.0319 | 0.0333 | 0.025 | 0.0556 | 0.1154 | 0.0667 | 0.0125 | 0.0375 | 0.0167 | 0.0513 | 0.05 | 0.04545 | 34 | 4 | |
17:43071205 C / T (rs79660108) | 17 | 43071205 | rs79660108 | C | T | p.Arg1591His | p.Arg1591His | c.4772G>A | PASS | missense | 55 | 930 | 0.0585 | 0.0333 | 0.05 | 0.0648 | 0.0385 | 0.0167 | 0 | 0.125 | 0.0333 | 0.1026 | 0.0875 | 0.05914 | 45 | 5 | |
17:43071320 C / T (rs73311304) | 17 | 43071320 | rs73311304 | C | T | c.4739-82G>A | PASS | intron | 100 | 938 | 0.133 | 0.0333 | 0.0375 | 0.1019 | 0.1026 | 0.15 | 0.1375 | 0.05 | 0.1667 | 0.0897 | 0.125 | 0.1066 | 86 | 7 | |||
17:43071391 C / T (rs80159176) | 17 | 43071391 | rs80159176 | C | T | c.4739-153G>A | PASS | intron | 46 | 950 | 0.0426 | 0.05 | 0.05 | 0.0648 | 0.1026 | 0.0333 | 0 | 0.0375 | 0.0333 | 0.0769 | 0.0375 | 0.04842 | 40 | 3 | |||
17:43071405 G / A (rs115372918) | 17 | 43071405 | rs115372918 | G | A | c.4739-167C>T | PASS | intron | 55 | 948 | 0.1649 | 0.15 | 0.025 | 0.037 | 0.0513 | 0.0667 | 0 | 0 | 0 | 0 | 0.0125 | 0.05802 | 33 | 11 | |||
17:43071437 T / C (rs4792962) | 17 | 43071437 | rs4792962 | T | C | c.4739-199A>G | PASS | intron | 109 | 942 | 0.117 | 0.05 | 0.05 | 0.1111 | 0.0769 | 0.2167 | 0.1875 | 0.075 | 0.2 | 0.0641 | 0.1375 | 0.1157 | 89 | 10 | |||
17:43071574 C / T (rs76853022) | 17 | 43071574 | rs76853022 | C | T | c.4739-336G>A | PASS | intron | 3 | 946 | 0.0053 | 0.0333 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.003171 | 3 | 0 | |||
17:43071612 A / G (rs4792963) | 17 | 43071612 | rs4792963 | A | G | c.4739-374T>C | PASS | intron | 225 | 932 | 0.3511 | 0.2667 | 0.15 | 0.1759 | 0.2564 | 0.3333 | 0.225 | 0.125 | 0.2 | 0.1795 | 0.225 | 0.2414 | 131 | 47 | |||
17:43071792 T / C (rs4792964) | 17 | 43071792 | rs4792964 | T | C | c.4739-554A>G | PASS | intron | 155 | 912 | 0.266 | 0.15 | 0.05 | 0.1296 | 0.1282 | 0.2333 | 0.2 | 0.0625 | 0.15 | 0.1282 | 0.175 | 0.1700 | 107 | 24 | |||
17:43072167 C / T (rs733512) | 17 | 43072167 | rs733512 | C | T | c.4739-929G>A | PASS | intron | 115 | 944 | 0.117 | 0.0333 | 0.05 | 0.1111 | 0.0897 | 0.1833 | 0.225 | 0.0875 | 0.2 | 0.1154 | 0.1375 | 0.1218 | 91 | 12 | |||
17:43072190 C / A (rs733511) | 17 | 43072190 | rs733511 | C | A | c.4739-952G>T | PASS | intron | 109 | 936 | 0.1277 | 0.0167 | 0.05 | 0.1204 | 0.0897 | 0.15 | 0.2 | 0.0875 | 0.1833 | 0.0897 | 0.125 | 0.1165 | 87 | 11 | |||
17:43072298 A / C (rs182931503) | 17 | 43072298 | rs182931503 | A | C | c.4739-1060T>G | PASS | intron | 55 | 940 | 0.1755 | 0.1167 | 0.05 | 0.0185 | 0.0513 | 0.05 | 0 | 0 | 0.0167 | 0 | 0.0125 | 0.05851 | 35 | 10 | |||
17:43072423 A / G (rs1178355597) | 17 | 43072423 | rs1178355597 | A | G | c.4739-1185T>C | PASS | intron | 1 | 938 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001066 | 1 | 0 | |||
17:43072546 C / T | 17 | 43072546 | chr17_43072546_C_T | C | T | c.4739-1308G>A | PASS | intron | 1 | 924 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001082 | 1 | 0 | |||
17:43072663 C / T (rs9900708) | 17 | 43072663 | rs9900708 | C | T | c.4739-1425G>A | PASS | intron | 229 | 798 | 0.2128 | 0.2167 | 0.2625 | 0.3426 | 0.1795 | 0.1833 | 0.125 | 0.3375 | 0.15 | 0.3077 | 0.2875 | 0.2870 | 79 | 75 | |||
17:43072777 A / G (rs184833586) | 17 | 43072777 | rs184833586 | A | G | c.4739-1539T>C | PASS | intron | 12 | 468 | 0.016 | 0 | 0.025 | 0 | 0 | 0 | 0 | 0 | 0.0333 | 0.0128 | 0.05 | 0.02564 | 4 | 3 | |||
17:43072781 AGGAGGGAGGGAG / A (rs1447310046) | 17 | 43072781 | rs1447310046 | AGGAGGGAGGGAG | A | c.4738+1538_4739-1544del | PASS | intron | 2 | 440 | 0 | 0.0333 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.004545 | 2 | 1 | |||
17:43072781 AGGAG / A (rs1447310046) | 17 | 43072781 | rs1447310046 | AGGAG | A | c.4738+1538_4739-1544del | PASS | intron | 4 | 440 | 0 | 0.0333 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.009091 | 2 | 1 | |||
17:43072797 G / A (rs1020838634) | 17 | 43072797 | rs1020838634 | G | A | c.4738+1534C>T | PASS | intron | 4 | 406 | 0.0106 | 0 | 0.025 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.009852 | 2 | 0 | |||
17:43072903 T / A (rs11657673) | 17 | 43072903 | rs11657673 | T | A | c.4738+1428A>T | PASS | intron | 51 | 640 | 0.0745 | 0 | 0.025 | 0.0556 | 0.0513 | 0.05 | 0.0375 | 0 | 0.1333 | 0.0513 | 0.0875 | 0.07969 | 139 | 2 | |||
17:43072903 T / C (rs11657673) | 17 | 43072903 | rs11657673 | T | C | c.4738+1428A>T | PASS | intron | 177 | 640 | 0.0745 | 0 | 0.025 | 0.0556 | 0.0513 | 0.05 | 0.0375 | 0 | 0.1333 | 0.0513 | 0.0875 | 0.2766 | 139 | 2 | |||
17:43072907 G / A (rs77541947) | 17 | 43072907 | rs77541947 | G | A | c.4738+1424C>T | PASS | intron | 223 | 594 | 0.2553 | 0.2167 | 0.1375 | 0.3611 | 0.2949 | 0.1333 | 0.0875 | 0.1625 | 0.15 | 0.3205 | 0.3375 | 0.3754 | 137 | 2 | |||
17:43072946 G / C (rs79635816) | 17 | 43072946 | rs79635816 | G | C | c.4738+1385C>G | PASS | intron | 57 | 812 | 0.0585 | 0 | 0.0375 | 0.0278 | 0.1154 | 0.0333 | 0.0375 | 0.1 | 0.1167 | 0.0769 | 0.0625 | 0.07020 | 38 | 7 | |||
17:43073261 G / A (rs60565989) | 17 | 43073261 | rs60565989 | G | A | c.4738+1070C>T | PASS | intron | 161 | 932 | 0.1755 | 0.1 | 0.125 | 0.1389 | 0.1667 | 0.25 | 0.1125 | 0.175 | 0.25 | 0.1795 | 0.2125 | 0.1727 | 100 | 30 | |||
17:43073412 G / A (rs529192073) | 17 | 43073412 | rs529192073 | G | A | c.4738+919C>T | PASS | intron | 10 | 950 | 0.0053 | 0.05 | 0.025 | 0 | 0 | 0.0333 | 0.0125 | 0 | 0 | 0 | 0.0125 | 0.01053 | 10 | 0 | |||
17:43073420 T / C (rs1353754267) | 17 | 43073420 | rs1353754267 | T | C | c.4738+911A>G | PASS | intron | 1 | 948 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001055 | 1 | 0 | |||
17:43073853 T / C (rs12453874) | 17 | 43073853 | rs12453874 | T | C | c.4738+478A>G | PASS | intron | 147 | 934 | 0.1755 | 0.0833 | 0.1 | 0.1019 | 0.2051 | 0.25 | 0.15 | 0.1 | 0.1833 | 0.1923 | 0.1625 | 0.1574 | 92 | 27 | |||
17:43073873 T / A (rs12453875) | 17 | 43073873 | rs12453875 | T | A | c.4738+458A>T | PASS | intron | 136 | 930 | 0.1649 | 0.0833 | 0.0875 | 0.1111 | 0.2051 | 0.2167 | 0.125 | 0.1125 | 0.15 | 0.1538 | 0.15 | 0.1462 | 94 | 21 | |||
17:43074056 C / T (rs12450972) | 17 | 43074056 | rs12450972 | C | T | c.4738+275G>A | PASS | intron | 53 | 928 | 0.0426 | 0.1167 | 0.0875 | 0.0463 | 0.0513 | 0.1167 | 0.0125 | 0.05 | 0.0333 | 0.0513 | 0.05 | 0.05711 | 39 | 7 | |||
17:43074064 TACAC / T (rs1168785101) | 17 | 43074064 | rs1168785101 | TACAC | T | c.4738+263_4738+266del | PASS | intron | 5 | 934 | 0.016 | 0 | 0 | 0 | 0.0128 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.005353 | 73 | 13 | |||
17:43074064 T / TACAC (rs1168785101) | 17 | 43074064 | rs1168785101 | T | TACAC | c.4738+263_4738+266del | PASS | intron | 33 | 934 | 0.016 | 0 | 0 | 0 | 0.0128 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.03533 | 73 | 13 | |||
17:43074064 T / TACACACAC (rs1168785101) | 17 | 43074064 | rs1168785101 | T | TACACACAC | c.4738+263_4738+266del | PASS | intron | 22 | 934 | 0.016 | 0 | 0 | 0 | 0.0128 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.02355 | 73 | 13 | |||
17:43074064 TAC / T (rs1168785101) | 17 | 43074064 | rs1168785101 | TAC | T | c.4738+263_4738+266del | PASS | intron | 13 | 934 | 0.016 | 0 | 0 | 0 | 0.0128 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.01392 | 73 | 13 | |||
17:43074064 T / TACACACACAC (rs1168785101) | 17 | 43074064 | rs1168785101 | T | TACACACACAC | c.4738+263_4738+266del | PASS | intron | 5 | 934 | 0.016 | 0 | 0 | 0 | 0.0128 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.005353 | 73 | 13 | |||
17:43074064 T / TAC (rs1168785101) | 17 | 43074064 | rs1168785101 | T | TAC | c.4738+263_4738+266del | PASS | intron | 21 | 934 | 0.016 | 0 | 0 | 0 | 0.0128 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.02248 | 73 | 13 | |||
17:43074081 A / C (rs2083829) | 17 | 43074081 | rs2083829 | A | C | c.4738+250T>G | PASS | intron | 52 | 940 | 0.1649 | 0.15 | 0.025 | 0.0185 | 0.0513 | 0.05 | 0 | 0 | 0 | 0 | 0.0125 | 0.05532 | 26 | 13 | |||
17:43074253 T / A (rs12449738) | 17 | 43074253 | rs12449738 | T | A | c.4738+78A>T | PASS | intron | 140 | 920 | 0.1596 | 0.0833 | 0.075 | 0.1111 | 0.2179 | 0.3 | 0.15 | 0.0875 | 0.2167 | 0.0897 | 0.1625 | 0.1522 | 90 | 25 | |||
17:43074351 A / G (rs113173063) | 17 | 43074351 | rs113173063 | A | G | p.Phe1573Ser | p.Phe1573Ser | c.4718T>C | PASS | missense | 53 | 948 | 0.1596 | 0.1833 | 0.025 | 0.0185 | 0.0513 | 0.05 | 0 | 0 | 0 | 0 | 0.0125 | 0.05591 | 35 | 9 | |
17:43074425 G / A (rs57982334) | 17 | 43074425 | rs57982334 | G | A | p.Asp1548Asp | p.Asp1548Asp | c.4644C>T | PASS | synonymous | LC LoF | 27 | 946 | 0.0426 | 0 | 0.075 | 0.0278 | 0.0256 | 0.0833 | 0.0125 | 0 | 0.0167 | 0 | 0.0125 | 0.02854 | 27 | 0 |
17:43074488 C / T (rs542728133) | 17 | 43074488 | rs542728133 | C | T | p.Glu1527Glu | p.Glu1527Glu | c.4581G>A | PASS | synonymous | 1 | 944 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001059 | 1 | 0 | |
17:43074616 C / T (rs141651555) | 17 | 43074616 | rs141651555 | C | T | c.4548-95G>A | PASS | intron | 4 | 942 | 0 | 0 | 0.0125 | 0.0093 | 0 | 0.0167 | 0 | 0 | 0 | 0.0128 | 0 | 0.004246 | 4 | 0 | |||
17:43074816 A / G | 17 | 43074816 | chr17_43074816_A_G | A | G | c.4548-295T>C | PASS | intron | 2 | 948 | 0 | 0 | 0 | 0 | 0 | 0.0333 | 0 | 0 | 0 | 0 | 0 | 0.002110 | 2 | 0 | |||
17:43075023 A / G (rs35836843) | 17 | 43075023 | rs35836843 | A | G | c.4548-502T>C | PASS | intron | 162 | 946 | 0.1755 | 0.0833 | 0.1375 | 0.1389 | 0.1923 | 0.3 | 0.2 | 0.1 | 0.2167 | 0.1795 | 0.175 | 0.1712 | 112 | 25 | |||
17:43075526 C / A (rs1290430074) | 17 | 43075526 | rs1290430074 | C | A | c.4547+962G>T | PASS | intron | 1 | 950 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001053 | 1 | 0 | |||
17:43075693 G / A (rs12452088) | 17 | 43075693 | rs12452088 | G | A | c.4547+795C>T | PASS | intron | 49 | 940 | 0.0532 | 0.05 | 0.05 | 0.0556 | 0.0897 | 0.0667 | 0 | 0.0375 | 0.05 | 0.0769 | 0.0375 | 0.05213 | 39 | 5 | |||
17:43075731 G / A (rs1189495160) | 17 | 43075731 | rs1189495160 | G | A | c.4547+757C>T | PASS | intron | 1 | 948 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001055 | 1 | 0 | |||
17:43075906 G / T (rs368149298) | 17 | 43075906 | rs368149298 | G | T | c.4547+582C>A | PASS | intron | 1 | 940 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001064 | 1 | 0 | |||
17:43076750 C / A (rs4792965) | 17 | 43076750 | rs4792965 | C | A | c.4424-139G>T | PASS | intron | 94 | 914 | 0.0904 | 0.05 | 0.0625 | 0.0926 | 0.0641 | 0.15 | 0.2 | 0.0625 | 0.0833 | 0.1026 | 0.1375 | 0.1028 | 70 | 11 | |||
17:43076764 G / A (rs4793175) | 17 | 43076764 | rs4793175 | G | A | c.4424-153C>T | PASS | intron | 88 | 916 | 0.0957 | 0.05 | 0.0625 | 0.0833 | 0.0641 | 0.1333 | 0.1625 | 0.0625 | 0.05 | 0.1026 | 0.1375 | 0.09607 | 68 | 9 | |||
17:43077345 T / C (rs117269073) | 17 | 43077345 | rs117269073 | T | C | c.4424-734A>G | PASS | intron | 47 | 942 | 0.0426 | 0.0333 | 0.0375 | 0.0556 | 0.1282 | 0.05 | 0 | 0.0375 | 0.0333 | 0.0897 | 0.0375 | 0.04989 | 35 | 6 | |||
17:43077586 CA / C (rs60212609) | 17 | 43077586 | rs60212609 | CA | C | c.4424-976del | PASS | intron | 32 | 918 | 0.0213 | 0.0167 | 0.075 | 0.0185 | 0.0128 | 0 | 0.075 | 0.0375 | 0.05 | 0.0385 | 0.0375 | 0.03486 | 91 | 21 | |||
17:43077586 C / CAA (rs60212609) | 17 | 43077586 | rs60212609 | C | CAA | c.4424-976del | PASS | intron | 66 | 918 | 0.0213 | 0.0167 | 0.075 | 0.0185 | 0.0128 | 0 | 0.075 | 0.0375 | 0.05 | 0.0385 | 0.0375 | 0.07190 | 91 | 21 | |||
17:43077586 C / CA (rs60212609) | 17 | 43077586 | rs60212609 | C | CA | c.4424-976del | PASS | intron | 39 | 918 | 0.0213 | 0.0167 | 0.075 | 0.0185 | 0.0128 | 0 | 0.075 | 0.0375 | 0.05 | 0.0385 | 0.0375 | 0.04248 | 91 | 21 | |||
17:43077604 GA / G (rs141631676) | 17 | 43077604 | rs141631676 | GA | G | c.4424-994del | PASS | intron | 107 | 930 | 0.1277 | 0.0333 | 0.0625 | 0.0926 | 0.1282 | 0.1833 | 0.1125 | 0.05 | 0.2167 | 0.1282 | 0.1125 | 0.1151 | 54 | 26 | |||
17:43077947 C / T (rs4793176) | 17 | 43077947 | rs4793176 | C | T | c.4424-1336G>A | PASS | intron | 106 | 936 | 0.133 | 0.05 | 0.0625 | 0.0926 | 0.0897 | 0.15 | 0.1875 | 0.0625 | 0.1833 | 0.1154 | 0.0875 | 0.1132 | 84 | 11 | |||
17:43078054 A / G (rs1435486629) | 17 | 43078054 | rs1435486629 | A | G | c.4423+1280T>C | PASS | intron | 4 | 950 | 0.016 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.004211 | 4 | 0 | |||
17:43078167 AT / A | 17 | 43078167 | chr17_43078167_AT_A | AT | A | c.4423+1166del | PASS | intron | 1 | 948 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001055 | 1 | 0 | |||
17:43078270 A / C (rs182964569) | 17 | 43078270 | rs182964569 | A | C | c.4423+1064T>G | PASS | intron | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001055 | 1 | 0 | |||
17:43078390 C / A (rs58365028) | 17 | 43078390 | rs58365028 | C | A | c.4423+944G>T | PASS | intron | 100 | 932 | 0.1223 | 0.05 | 0.0625 | 0.0833 | 0.0769 | 0.1833 | 0.1625 | 0.0875 | 0.1667 | 0.0897 | 0.075 | 0.1073 | 84 | 8 | |||
17:43078562 C / G (rs117268763) | 17 | 43078562 | rs117268763 | C | G | c.4423+772G>C | PASS | intron | 4 | 936 | 0 | 0 | 0 | 0 | 0.0385 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.004274 | 2 | 1 | |||
17:43078665 T / C (rs36027641) | 17 | 43078665 | rs36027641 | T | C | c.4423+669A>G | PASS | intron | 102 | 932 | 0.1117 | 0.0167 | 0.0375 | 0.1019 | 0.0769 | 0.15 | 0.175 | 0.075 | 0.1833 | 0.0897 | 0.1625 | 0.1094 | 72 | 15 | |||
17:43078682 G / T (rs1161249560) | 17 | 43078682 | rs1161249560 | G | T | c.4423+652C>A | PASS | intron | 1 | 944 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001059 | 1 | 0 | |||
17:43078913 A / G (rs78353104) | 17 | 43078913 | rs78353104 | A | G | c.4423+421T>C | PASS | intron | 7 | 930 | 0.0106 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0.0385 | 0.0125 | 0.007527 | 7 | 0 | |||
17:43078921 G / A (rs532955991) | 17 | 43078921 | rs532955991 | G | A | c.4423+413C>T | PASS | intron | 2 | 932 | 0 | 0 | 0 | 0.0093 | 0.0128 | 0 | 0 | 0 | 0 | 0 | 0 | 0.002146 | 2 | 0 | |||
17:43079205 T / C | 17 | 43079205 | chr17_43079205_T_C | T | C | c.4423+129A>G | PASS | intron | 2 | 946 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0.0125 | 0.002114 | 2 | 0 | |||
17:43079322 G / C (rs56284011) | 17 | 43079322 | rs56284011 | G | C | c.4423+12C>G | PASS | intron | 215 | 930 | 0.1755 | 0.1 | 0.2125 | 0.2778 | 0.2051 | 0.2 | 0.15 | 0.4 | 0.2 | 0.3462 | 0.225 | 0.2312 | 115 | 50 | |||
17:43079662 CAAAAAA / C (rs1234571059) | 17 | 43079662 | rs1234571059 | CAAAAAA | C | c.4358-269_4358-264del | PASS | intron | 30 | 442 | 0.0479 | 0.0333 | 0 | 0.0463 | 0.0513 | 0.0167 | 0 | 0 | 0.0167 | 0.0513 | 0.05 | 0.06787 | 4 | 15 | |||
17:43079662 CAAAAAAA / C (rs1234571059) | 17 | 43079662 | rs1234571059 | CAAAAAAA | C | c.4358-269_4358-264del | PASS | intron | 2 | 442 | 0.0479 | 0.0333 | 0 | 0.0463 | 0.0513 | 0.0167 | 0 | 0 | 0.0167 | 0.0513 | 0.05 | 0.004525 | 4 | 15 | |||
17:43079662 C / CAAAAAAAAAAAAAAA (rs1234571059) | 17 | 43079662 | rs1234571059 | C | CAAAAAAAAAAAAAAA | c.4358-269_4358-264del | PASS | intron | 2 | 442 | 0.0479 | 0.0333 | 0 | 0.0463 | 0.0513 | 0.0167 | 0 | 0 | 0.0167 | 0.0513 | 0.05 | 0.004525 | 4 | 15 | |||
17:43079877 C / G (rs112998358) | 17 | 43079877 | rs112998358 | C | G | c.4358-478G>C | PASS | intron | 39 | 912 | 0.0319 | 0.0167 | 0.05 | 0.037 | 0.0641 | 0.0833 | 0 | 0.0375 | 0.0333 | 0.0897 | 0.025 | 0.04276 | 29 | 5 | |||
17:43079886 A / T | 17 | 43079886 | chr17_43079886_A_T | A | T | c.4358-487T>A | PASS | intron | 1 | 926 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001080 | 1 | 0 | |||
17:43080157 C / T (rs954348806) | 17 | 43080157 | rs954348806 | C | T | c.4358-758G>A | PASS | intron | 1 | 942 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.001062 | 1 | 0 | |||
17:43080301 C / A (rs369323297) | 17 | 43080301 | rs369323297 | C | A | c.4358-902G>T | PASS | intron | 21 | 942 | 0.0426 | 0 | 0.05 | 0.037 | 0.0128 | 0.0333 | 0.025 | 0 | 0 | 0 | 0 | 0.02229 | 17 | 2 | |||
17:43080425 C / CA (rs537688385) | 17 | 43080425 | rs537688385 | C | CA | c.4358-1027dup | PASS | intron | 11 | 938 | 0.0106 | 0 | 0 | 0 | 0.0128 | 0 | 0.0125 | 0 | 0.0333 | 0.0641 | 0 | 0.01173 | 32 | 0 | |||
17:43080425 CA / C (rs537688385) | 17 | 43080425 | rs537688385 | CA | C | c.4358-1027dup | PASS | intron | 21 | 938 | 0.0106 | 0 | 0 | 0 | 0.0128 | 0 | 0.0125 | 0 | 0.0333 | 0.0641 | 0 | 0.02239 | 32 | 0 | |||
17:43080445 A / G (rs1452672682) | 17 | 43080445 | rs1452672682 | A | G | c.4358-1046T>C | PASS | intron | 3 | 944 | 0.0106 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0.003178 | 3 | 0 | |||
17:43081311 C / T (rs562885639) | 17 | 43081311 | rs562885639 | C | T | c.4357+1093G>A | PASS | intron | 2 | 948 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.002110 | 2 | 0 | |||
17:43081515 A / G (rs115155368) | 17 | 43081515 | rs115155368 | A | G | c.4357+889T>C | PASS | intron | 18 | 948 | 0.0106 | 0 | 0.0125 | 0.0185 | 0 | 0.0333 | 0.0625 | 0.025 | 0.0167 | 0 | 0.0375 | 0.01899 | 12 | 3 | |||
17:43081520 C / T (rs1453716835) | 17 | 43081520 | rs1453716835 | C | T | c.4357+884G>A | PASS | intron | 2 | 946 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.002114 | 2 | 0 | |||
17:43081771 T / G | 17 | 43081771 | chr17_43081771_T_G | T | G | c.4357+633A>C | PASS | intron | 1 | 938 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001066 | 1 | 0 | |||
17:43081867 T / C (rs905553679) | 17 | 43081867 | rs905553679 | T | C | c.4357+537A>G | PASS | intron | 1 | 936 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.001068 | 1 | 0 | |||
17:43081949 G / A (rs1331425417) | 17 | 43081949 | rs1331425417 | G | A | c.4357+455C>T | PASS | intron | 2 | 928 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.025 | 0.002155 | 0 | 1 | |||
17:43081974 A / G (rs11652163) | 17 | 43081974 | rs11652163 | A | G | c.4357+430T>C | PASS | intron | 252 | 882 | 0.2128 | 0.15 | 0.3625 | 0.3981 | 0.1795 | 0.2167 | 0.1375 | 0.2875 | 0.25 | 0.3077 | 0.3875 | 0.2857 | 102 | 75 | |||
17:43082233 T / TATATA | 17 | 43082233 | chr17_43082233_TTATATATATATATAA_TATATATATATATATATATAA,*,TATATATATATATATATATATAA | T | TATATA | c.4357+170_4357+171insTATAT | PASS | intron | 3 | 352 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.008523 | 25 | 2 | |||
17:43082233 TTATATATATATATAA / * | 17 | 43082233 | chr17_43082233_TTATATATATATATAA_TATATATATATATATATATAA,*,TATATATATATATATATATATAA | TTATATATATATATAA | * | c.4357+170_4357+171insTATAT | PASS | intron | 39 | 352 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.1108 | 25 | 2 | |||
17:43082233 T / TATATATA | 17 | 43082233 | chr17_43082233_TTATATATATATATAA_TATATATATATATATATATAA,*,TATATATATATATATATATATAA | T | TATATATA | c.4357+170_4357+171insTATAT | PASS | intron | 8 | 352 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.02273 | 25 | 2 | |||
17:43082671 C / G (rs12603597) | 17 | 43082671 | rs12603597 | C | G | c.4186-96G>C | PASS | intron | 44 | 946 | 0.0479 | 0.0167 | 0.0375 | 0.0278 | 0.1282 | 0.0667 | 0 | 0.025 | 0.05 | 0.0897 | 0.025 | 0.04651 | 36 | 4 | |||
17:43083002 A / T (rs992289578) | 17 | 43083002 | rs992289578 | A | T | c.4186-427T>A | PASS | intron | 3 | 944 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0375 | 0 | 0 | 0 | 0 | 0.003178 | 3 | 0 | |||
17:43083048 T / C | 17 | 43083048 | chr17_43083048_T_C | T | C | c.4186-473A>G | PASS | intron | 2 | 948 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0.0125 | 0 | 0 | 0 | 0 | 0.002110 | 2 | 0 | |||
17:43083054 A / G | 17 | 43083054 | chr17_43083054_A_G | A | G | c.4186-479T>C | PASS | intron | 2 | 948 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0.0125 | 0 | 0 | 0 | 0 | 0.002110 | 2 | 0 | |||
17:43083164 G / A (rs183206745) | 17 | 43083164 | rs183206745 | G | A | c.4186-589C>T | PASS | intron | 52 | 940 | 0.1596 | 0.1833 | 0.0125 | 0.0185 | 0.0385 | 0.05 | 0 | 0 | 0.0167 | 0 | 0.0125 | 0.05532 | 32 | 10 | |||
17:43083263 C / T (rs1212521391) | 17 | 43083263 | rs1212521391 | C | T | c.4186-688G>A | PASS | intron | 1 | 950 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001053 | 1 | 0 | |||
17:43083801 A / G (rs543912271) | 17 | 43083801 | rs543912271 | A | G | c.4186-1226T>C | PASS | intron | 1 | 926 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0.001080 | 1 | 0 | |||
17:43084043 AC / A (rs1489506823) | 17 | 43084043 | rs1489506823 | AC | A | c.4186-1469del | PASS | intron | 2 | 448 | 0.0106 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.004464 | 2 | 0 | |||
17:43084455 G / A (rs75353403) | 17 | 43084455 | rs75353403 | G | A | c.4186-1880C>T | PASS | intron | 97 | 900 | 0.1223 | 0 | 0.025 | 0.1111 | 0.0897 | 0.15 | 0.175 | 0.05 | 0.1333 | 0.1282 | 0.1 | 0.1078 | 61 | 18 | |||
17:43084693 C / T (rs185730874) | 17 | 43084693 | rs185730874 | C | T | c.4186-2118G>A | PASS | intron | 9 | 942 | 0.0213 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.05 | 0.0256 | 0 | 0.009554 | 7 | 1 | |||
17:43084770 C / T (rs78100533) | 17 | 43084770 | rs78100533 | C | T | c.4186-2195G>A | PASS | intron | 7 | 940 | 0.016 | 0 | 0 | 0.0093 | 0.0256 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0.007447 | 7 | 0 | |||
17:43084812 C / T (rs4793177) | 17 | 43084812 | rs4793177 | C | T | c.4186-2237G>A | PASS | intron | 95 | 924 | 0.1489 | 0.05 | 0.025 | 0.1019 | 0.1026 | 0.1667 | 0.1 | 0.025 | 0.1167 | 0.0769 | 0.125 | 0.1028 | 79 | 8 | |||
17:43084889 G / GT (rs1450273284) | 17 | 43084889 | rs1450273284 | G | GT | c.4186-2315dup | PASS | intron | 235 | 896 | 0.2287 | 0.25 | 0.2625 | 0.3426 | 0.2308 | 0.1667 | 0.1375 | 0.225 | 0.2333 | 0.3077 | 0.3 | 0.2623 | 109 | 65 | |||
17:43084889 GT / G (rs1450273284) | 17 | 43084889 | rs1450273284 | GT | G | c.4186-2315dup | PASS | intron | 5 | 896 | 0.2287 | 0.25 | 0.2625 | 0.3426 | 0.2308 | 0.1667 | 0.1375 | 0.225 | 0.2333 | 0.3077 | 0.3 | 0.005580 | 109 | 65 | |||
17:43084961 A / G (rs570408445) | 17 | 43084961 | rs570408445 | A | G | c.4186-2386T>C | PASS | intron | 1 | 942 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0.001062 | 1 | 0 | |||
17:43085340 G / A (rs12936109) | 17 | 43085340 | rs12936109 | G | A | c.4186-2765C>T | PASS | intron | 4 | 940 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.025 | 0 | 0 | 0.025 | 0.004255 | 2 | 1 | |||
17:43085352 G / C (rs1561968) | 17 | 43085352 | rs1561968 | G | C | c.4186-2777C>G | PASS | intron | 40 | 936 | 0.0479 | 0 | 0.0375 | 0.037 | 0.0769 | 0.0667 | 0 | 0.025 | 0.05 | 0.0769 | 0.0375 | 0.04274 | 30 | 5 | |||
17:43085415 C / T (rs34779614) | 17 | 43085415 | rs34779614 | C | T | c.4186-2840G>A | PASS | intron | 11 | 938 | 0.0266 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0.0128 | 0.0375 | 0.01173 | 11 | 0 | |||
17:43085579 G / C | 17 | 43085579 | chr17_43085579_G_C | G | C | c.4186-3004C>G | PASS | intron | 1 | 946 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001057 | 1 | 0 | |||
17:43085899 T / G (rs118005980) | 17 | 43085899 | rs118005980 | T | G | c.4186-3324A>C | PASS | intron | 24 | 950 | 0.0319 | 0.1167 | 0 | 0 | 0.0641 | 0 | 0 | 0.05 | 0.0167 | 0 | 0.0125 | 0.02526 | 20 | 2 | |||
17:43085960 T / G (rs80019452) | 17 | 43085960 | rs80019452 | T | G | c.4186-3385A>C | PASS | intron | 1 | 946 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001057 | 1 | 0 | |||
17:43086231 G / A (rs74656108) | 17 | 43086231 | rs74656108 | G | A | c.4186-3656C>T | PASS | intron | 1 | 936 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001068 | 1 | 0 | |||
17:43086625 G / A (rs76251979) | 17 | 43086625 | rs76251979 | G | A | c.4186-4050C>T | PASS | intron | 93 | 918 | 0.1223 | 0.0333 | 0.0625 | 0.0926 | 0.0769 | 0.15 | 0.125 | 0.0625 | 0.1333 | 0.0897 | 0.1 | 0.1013 | 77 | 8 | |||
17:43086673 C / T (rs7211402) | 17 | 43086673 | rs7211402 | C | T | c.4186-4098G>A | PASS | intron | 586 | 912 | 0.6702 | 0.5 | 0.625 | 0.6204 | 0.5128 | 0.7 | 0.5375 | 0.65 | 0.5 | 0.5897 | 0.75 | 0.6425 | 158 | 214 | |||
17:43087183 G / A (rs35103016) | 17 | 43087183 | rs35103016 | G | A | c.4185+3761C>T | PASS | intron | 12 | 942 | 0.0106 | 0.05 | 0 | 0 | 0 | 0.0333 | 0 | 0 | 0 | 0.0128 | 0.05 | 0.01274 | 12 | 0 | |||
17:43087201 A / G (rs931126486) | 17 | 43087201 | rs931126486 | A | G | c.4185+3743T>C | PASS | intron | 1 | 938 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001066 | 1 | 0 | |||
17:43087257 G / A | 17 | 43087257 | chr17_43087257_G_A | G | A | c.4185+3687C>T | PASS | intron | 1 | 936 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.001068 | 1 | 0 | |||
17:43087288 G / A (rs544952674) | 17 | 43087288 | rs544952674 | G | A | c.4185+3656C>T | PASS | intron | 9 | 936 | 0.0319 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0.0128 | 0 | 0.009615 | 9 | 0 | |||
17:43087295 G / A (rs150827975) | 17 | 43087295 | rs150827975 | G | A | c.4185+3649C>T | PASS | intron | 16 | 934 | 0.016 | 0 | 0.0125 | 0.0185 | 0.0256 | 0 | 0.05 | 0 | 0.0167 | 0 | 0.0375 | 0.01713 | 10 | 3 | |||
17:43087376 G / A (rs9905098) | 17 | 43087376 | rs9905098 | G | A | c.4185+3568C>T | PASS | intron | 244 | 878 | 0.1915 | 0.1833 | 0.3 | 0.3241 | 0.2308 | 0.2167 | 0.2125 | 0.3625 | 0.15 | 0.2949 | 0.3625 | 0.2779 | 116 | 64 | |||
17:43087412 G / A (rs115579064) | 17 | 43087412 | rs115579064 | G | A | c.4185+3532C>T | PASS | intron | 16 | 934 | 0.0106 | 0 | 0.0125 | 0.0185 | 0.0128 | 0.0167 | 0.0625 | 0 | 0 | 0 | 0.05 | 0.01713 | 12 | 2 | |||
17:43087826 C / T (rs12941960) | 17 | 43087826 | rs12941960 | C | T | c.4185+3118G>A | PASS | intron | 18 | 948 | 0.0106 | 0.0667 | 0.0375 | 0 | 0 | 0.05 | 0.0125 | 0.0125 | 0 | 0.0128 | 0.0375 | 0.01899 | 18 | 0 | |||
17:43088013 C / T (rs188074052) | 17 | 43088013 | rs188074052 | C | T | c.4185+2931G>A | PASS | intron | 1 | 944 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0.001059 | 1 | 0 | |||
17:43088064 G / C (rs74716106) | 17 | 43088064 | rs74716106 | G | C | c.4185+2880C>G | PASS | intron | 51 | 938 | 0.0479 | 0.0167 | 0.05 | 0.0463 | 0.1282 | 0.0833 | 0.025 | 0.0375 | 0.05 | 0.0897 | 0.025 | 0.05437 | 37 | 7 | |||
17:43088098 T / C (rs61314636) | 17 | 43088098 | rs61314636 | T | C | c.4185+2846A>G | PASS | intron | 36 | 944 | 0.0372 | 0.05 | 0.025 | 0.0093 | 0 | 0.0167 | 0.0875 | 0.025 | 0.0333 | 0.0513 | 0.0875 | 0.03814 | 32 | 2 | |||
17:43088228 G / A (rs12326005) | 17 | 43088228 | rs12326005 | G | A | c.4185+2716C>T | PASS | intron | 399 | 910 | 0.3457 | 0.3 | 0.4375 | 0.5093 | 0.3077 | 0.5333 | 0.45 | 0.5125 | 0.3333 | 0.3974 | 0.525 | 0.4385 | 161 | 117 | |||
17:43088229 C / T (rs538157924) | 17 | 43088229 | rs538157924 | C | T | c.4185+2715G>A | PASS | intron | 7 | 938 | 0.0053 | 0.0333 | 0 | 0.0093 | 0.0385 | 0 | 0 | 0 | 0 | 0 | 0 | 0.007463 | 6 | 0 | |||
17:43088803 CA / C (rs1491078008) | 17 | 43088803 | rs1491078008 | CA | C | c.4185+2140del | PASS | intron | 148 | 548 | 0.1543 | 0.15 | 0.2 | 0.1019 | 0.1282 | 0.1167 | 0.0625 | 0.1375 | 0.1167 | 0.2179 | 0.325 | 0.2701 | 101 | 12 | |||
17:43088803 C / CA (rs1491078008) | 17 | 43088803 | rs1491078008 | C | CA | c.4185+2140del | PASS | intron | 35 | 548 | 0.1543 | 0.15 | 0.2 | 0.1019 | 0.1282 | 0.1167 | 0.0625 | 0.1375 | 0.1167 | 0.2179 | 0.325 | 0.06387 | 101 | 12 | |||
17:43088803 CAA / C (rs1491078008) | 17 | 43088803 | rs1491078008 | CAA | C | c.4185+2140del | PASS | intron | 4 | 548 | 0.1543 | 0.15 | 0.2 | 0.1019 | 0.1282 | 0.1167 | 0.0625 | 0.1375 | 0.1167 | 0.2179 | 0.325 | 0.007299 | 101 | 12 | |||
17:43088812 A / G (rs201489587) | 17 | 43088812 | rs201489587 | A | G | c.4185+2132T>C | PASS | intron | 146 | 598 | 0.1436 | 0.1333 | 0.2 | 0.1111 | 0.1282 | 0.15 | 0.0625 | 0.1375 | 0.1 | 0.2179 | 0.3125 | 0.2441 | 89 | 1 | |||
17:43088916 T / C | 17 | 43088916 | chr17_43088916_T_C | T | C | c.4185+2028A>G | PASS | intron | 2 | 934 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0.0128 | 0 | 0.002141 | 2 | 0 | |||
17:43088936 C / T (rs76951886) | 17 | 43088936 | rs76951886 | C | T | c.4185+2008G>A | PASS | intron | 238 | 840 | 0.2128 | 0.1667 | 0.2125 | 0.3333 | 0.2051 | 0.1833 | 0.2375 | 0.2875 | 0.1833 | 0.2949 | 0.4 | 0.2833 | 107 | 65 | |||
17:43089068 G / A (rs181170705) | 17 | 43089068 | rs181170705 | G | A | c.4185+1876C>T | PASS | intron | 14 | 932 | 0.0053 | 0 | 0.0125 | 0.0093 | 0.0128 | 0.0167 | 0.0625 | 0.025 | 0.0167 | 0 | 0.0125 | 0.01502 | 12 | 1 | |||
17:43089083 C / T (rs375004275) | 17 | 43089083 | rs375004275 | C | T | c.4185+1861G>A | PASS | intron | 4 | 932 | 0.0213 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.004292 | 2 | 1 | |||
17:43089159 A / G (rs138445937) | 17 | 43089159 | rs138445937 | A | G | c.4185+1785T>C | PASS | intron | 6 | 942 | 0.0106 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0.0128 | 0.025 | 0.006369 | 6 | 0 | |||
17:43089169 A / G (rs1316692002) | 17 | 43089169 | rs1316692002 | A | G | c.4185+1775T>C | PASS | intron | 1 | 940 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0.001064 | 1 | 0 | |||
17:43089275 GA / G (rs71363513) | 17 | 43089275 | rs71363513 | GA | G | c.4185+1668del | PASS | intron | 19 | 942 | 0.0053 | 0 | 0 | 0.0093 | 0 | 0.1167 | 0.025 | 0.0125 | 0.0333 | 0.0128 | 0.05 | 0.02017 | 15 | 2 | |||
17:43089473 A / G | 17 | 43089473 | chr17_43089473_A_G | A | G | c.4185+1471T>C | PASS | intron | 3 | 934 | 0.0053 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.003212 | 4 | 0 | |||
17:43089477 G / C (rs9893429) | 17 | 43089477 | rs9893429 | G | C | c.4185+1467C>G | PASS | intron | 266 | 898 | 0.2128 | 0.2167 | 0.2875 | 0.3333 | 0.1923 | 0.2333 | 0.25 | 0.3625 | 0.2333 | 0.3462 | 0.4375 | 0.2962 | 118 | 73 | |||
17:43089573 C / T (rs1032630053) | 17 | 43089573 | rs1032630053 | C | T | c.4185+1371G>A | PASS | intron | 1 | 942 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001062 | 1 | 0 | |||
17:43089750 T / A | 17 | 43089750 | chr17_43089750_T_A | T | A | c.4185+1194A>T | PASS | intron | 1 | 914 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.001094 | 1 | 0 | |||
17:43089993 T / G (rs187258101) | 17 | 43089993 | rs187258101 | T | G | c.4185+951A>C | PASS | intron | 5 | 940 | 0 | 0 | 0 | 0.0278 | 0 | 0 | 0.0125 | 0 | 0.0167 | 0 | 0 | 0.005319 | 3 | 1 | |||
17:43090043 G / GC (rs5820564) | 17 | 43090043 | rs5820564 | G | GC | c.4185+900_4185+901insG | PASS | intron | 353 | 916 | 0.3191 | 0.25 | 0.3375 | 0.4907 | 0.2949 | 0.45 | 0.275 | 0.325 | 0.3333 | 0.4359 | 0.575 | 0.3854 | 143 | 104 | |||
17:43090135 C / A (rs4349189) | 17 | 43090135 | rs4349189 | C | A | c.4185+809G>T | PASS | intron | 399 | 886 | 0.3457 | 0.2833 | 0.375 | 0.537 | 0.3718 | 0.4333 | 0.4875 | 0.475 | 0.3 | 0.4359 | 0.5625 | 0.4503 | 143 | 128 | |||
17:43090320 AG / A (rs74637756) | 17 | 43090320 | rs74637756 | AG | A | c.4185+623del | PASS | intron | 102 | 942 | 0.1277 | 0.0333 | 0.025 | 0.1111 | 0.0897 | 0.1833 | 0.1375 | 0.1 | 0.15 | 0.0897 | 0.1125 | 0.1083 | 82 | 10 | |||
17:43090416 G / T (rs12951005) | 17 | 43090416 | rs12951005 | G | T | c.4185+528C>A | PASS | intron | 16 | 950 | 0.0106 | 0.05 | 0.05 | 0 | 0 | 0.0333 | 0.0125 | 0 | 0 | 0.0128 | 0.0375 | 0.01684 | 14 | 1 | |||
17:43090753 G / A (rs1484563301) | 17 | 43090753 | rs1484563301 | G | A | c.4185+191C>T | PASS | intron | 2 | 948 | 0 | 0 | 0.025 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.002110 | 2 | 0 | |||
17:43090910 C / G (rs12937001) | 17 | 43090910 | rs12937001 | C | G | c.4185+34G>C | PASS | intron | 16 | 940 | 0.0053 | 0.0333 | 0.075 | 0 | 0 | 0.0167 | 0.0125 | 0.0125 | 0 | 0.0128 | 0.0375 | 0.01702 | 10 | 3 | |||
17:43090950 T / C (rs60573416) | 17 | 43090950 | rs60573416 | T | C | p.Thr1393Thr | p.Thr1393Thr | c.4179A>G | PASS | synonymous | 102 | 930 | 0.1223 | 0.0333 | 0.0625 | 0.1204 | 0.0897 | 0.2 | 0.125 | 0.0625 | 0.15 | 0.0897 | 0.1125 | 0.1097 | 82 | 10 | |
17:43091018 T / C (rs2878973) | 17 | 43091018 | rs2878973 | T | C | p.Arg1371Gly | p.Arg1371Gly | c.4111A>G | PASS | missense | 410 | 926 | 0.3777 | 0.2667 | 0.4 | 0.5648 | 0.3718 | 0.4667 | 0.3375 | 0.55 | 0.3667 | 0.4744 | 0.5375 | 0.4428 | 158 | 126 | |
17:43091136 C / T (rs186050935) | 17 | 43091136 | rs186050935 | C | T | c.4097-104G>A | PASS | intron | 52 | 938 | 0.1649 | 0.1833 | 0.0125 | 0.0278 | 0.0256 | 0.0333 | 0 | 0 | 0.0167 | 0 | 0.0125 | 0.05544 | 30 | 11 | |||
17:43091181 G / C (rs12953082) | 17 | 43091181 | rs12953082 | G | C | c.4097-149C>G | PASS | intron | 15 | 940 | 0.0106 | 0.0333 | 0.025 | 0 | 0 | 0.05 | 0.0125 | 0.0125 | 0 | 0.0128 | 0.0375 | 0.01596 | 13 | 1 | |||
17:43091376 A / G (rs143334356) | 17 | 43091376 | rs143334356 | A | G | c.4096+59T>C | PASS | intron | 12 | 928 | 0.0053 | 0 | 0 | 0.0093 | 0.0128 | 0.0167 | 0 | 0 | 0.0167 | 0.0128 | 0.075 | 0.01293 | 10 | 1 | |||
17:43091649 AAT / A (rs200425350) | 17 | 43091649 | rs200425350 | AAT | A | p.Ser1294LeufsTer8 | p.Ser1294LeufsTer8 | c.3880_3881del | PASS | frameshift | LoF flag | 8 | 162 | 0.0319 | 0 | 0 | 0 | 0 | 0.0333 | 0 | 0 | 0 | 0 | 0 | 0.04938 | 0 | 4 |
17:43091675 T / TTA (rs71136062) | 17 | 43091675 | rs71136062 | T | TTA | p.Ser1286Ter | p.Ser1286Ter | c.3854_3855dup | PASS | frameshift | LoF flag | 14 | 150 | 0.0319 | 0 | 0 | 0 | 0 | 0.0333 | 0 | 0 | 0 | 0 | 0.075 | 0.09333 | 0 | 7 |
17:43091722 A / G (rs1345376790) | 17 | 43091722 | rs1345376790 | A | G | p.Phe1270Ser | p.Phe1270Ser | c.3809T>C | PASS | missense | 3 | 200 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.01500 | 1 | 1 | |
17:43091787 C / CTTTTTTTTT | 17 | 43091787 | chr17_43091787_C_CTTTTTTTTT | C | CTTTTTTTTT | p.Ala1248_Thr1249ins... | p.Ala1248_Thr1249insLysLysAsn | c.3743_3744insAAAAAAAAA | PASS | inframe insertion | 3 | 366 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.008197 | 4 | 0 | |
17:43092107 T / C (rs993887315) | 17 | 43092107 | rs993887315 | T | C | p.Thr1142Ala | p.Thr1142Ala | c.3424A>G | PASS | missense | 1 | 930 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001075 | 1 | 0 | |
17:43092302 T / G (rs12946018) | 17 | 43092302 | rs12946018 | T | G | p.Arg1077Arg | p.Arg1077Arg | c.3229A>C | PASS | synonymous | 14 | 946 | 0.016 | 0.0333 | 0.0375 | 0 | 0 | 0.05 | 0.0125 | 0 | 0 | 0.0128 | 0.0125 | 0.01480 | 12 | 1 | |
17:43092352 G / A (rs535500515) | 17 | 43092352 | rs535500515 | G | A | p.Ala1060Val | p.Ala1060Val | c.3179C>T | PASS | missense | 1 | 932 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001073 | 1 | 0 | |
17:43092387 C / CA (rs533169452) | 17 | 43092387 | rs533169452 | C | CA | p.Ser1049PhefsTer4 | p.Ser1049PhefsTer4 | c.3143dup | PASS | frameshift | LoF flag | 78 | 920 | 0.0904 | 0.0167 | 0.075 | 0.0741 | 0.0513 | 0.1167 | 0.15 | 0.025 | 0.1167 | 0.0385 | 0.1375 | 0.08478 | 48 | 15 |
17:43092553 G / A (rs573676785) | 17 | 43092553 | rs573676785 | G | A | p.Thr993Ile | p.Thr993Ile | c.2978C>T | PASS | missense | 2 | 944 | 0 | 0 | 0 | 0 | 0.0256 | 0 | 0 | 0 | 0 | 0 | 0 | 0.002119 | 2 | 0 | |
17:43092635 C / T (rs9891298) | 17 | 43092635 | rs9891298 | C | T | p.Val966Ile | p.Val966Ile | c.2896G>A | PASS | missense | 256 | 880 | 0.2553 | 0.2167 | 0.25 | 0.3796 | 0.2436 | 0.15 | 0.25 | 0.25 | 0.2 | 0.2564 | 0.425 | 0.2909 | 112 | 72 | |
17:43092695 TCAACAA / T (rs1198635367) | 17 | 43092695 | rs1198635367 | TCAACAA | T | p.Ser945_Ile946insLe... | p.Ser945_Ile946insLeu | c.2835_2836insTTG | PASS | inframe insertion | 3 | 886 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.003386 | 102 | 152 | |
17:43092695 TCAA / T (rs1198635367) | 17 | 43092695 | rs1198635367 | TCAA | T | p.Ser945_Ile946insLe... | p.Ser945_Ile946insLeu | c.2835_2836insTTG | PASS | inframe insertion | 399 | 886 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.4503 | 102 | 152 | |
17:43092695 T / TCAA (rs1198635367) | 17 | 43092695 | rs1198635367 | T | TCAA | p.Ser945_Ile946insLe... | p.Ser945_Ile946insLeu | c.2835_2836insTTG | PASS | inframe insertion | 10 | 886 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.01129 | 102 | 152 | |
17:43093021 C / G (rs9892253) | 17 | 43093021 | rs9892253 | C | G | p.Gly837Ala | p.Gly837Ala | c.2510G>C | PASS | missense | 308 | 936 | 0.2287 | 0.2667 | 0.4 | 0.4074 | 0.2179 | 0.3833 | 0.25 | 0.375 | 0.2333 | 0.4103 | 0.4625 | 0.3291 | 154 | 77 | |
17:43093401 T / C (rs8072289) | 17 | 43093401 | rs8072289 | T | C | p.Thr710Thr | p.Thr710Thr | c.2130A>G | PASS | synonymous | 294 | 776 | 0.2394 | 0.1833 | 0.3875 | 0.3981 | 0.2821 | 0.4333 | 0.2875 | 0.2 | 0.35 | 0.3077 | 0.4 | 0.3789 | 77 | 108 | |
17:43093739 T / TC (rs556546665) | 17 | 43093739 | rs556546665 | T | TC | p.Leu598ValfsTer10 | p.Leu598ValfsTer10 | c.1791dup | PASS | frameshift | LoF flag | 2 | 942 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.002123 | 2 | 0 |
17:43093872 C / T (rs75247308) | 17 | 43093872 | rs75247308 | C | T | p.Gln553Gln | p.Gln553Gln | c.1659G>A | PASS | synonymous | 103 | 934 | 0.1277 | 0.0167 | 0.0625 | 0.1111 | 0.0769 | 0.15 | 0.15 | 0.1 | 0.1167 | 0.1154 | 0.125 | 0.1103 | 85 | 9 | |
17:43093874 T / C (rs141241390) | 17 | 43093874 | rs141241390 | T | C | p.Asn553Asp | p.Asn553Asp | c.1657A>G | PASS | missense | 8 | 944 | 0.0213 | 0.0333 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0.0128 | 0 | 0.008475 | 6 | 1 | |
17:43093881 C / T (rs372259596) | 17 | 43093881 | rs372259596 | C | T | p.Lys550Lys | p.Lys550Lys | c.1650G>A | PASS | synonymous | 3 | 944 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.025 | 0 | 0.0128 | 0 | 0.003178 | 3 | 0 | |
17:43094010 C / T (rs77035914) | 17 | 43094010 | rs77035914 | C | T | p.Arg507Arg | p.Arg507Arg | c.1521G>A | PASS | synonymous | 2 | 948 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0.002110 | 2 | 0 | |
17:43094047 G / C | 17 | 43094047 | chr17_43094047_G_C | G | C | p.Ala495Gly | p.Ala495Gly | c.1484C>G | PASS | missense | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001055 | 1 | 0 | |
17:43094121 C / T (rs181658635) | 17 | 43094121 | rs181658635 | C | T | p.Arg470Arg | p.Arg470Arg | c.1410G>A | PASS | synonymous | 23 | 946 | 0.0426 | 0 | 0.0875 | 0.037 | 0.0128 | 0.0167 | 0.025 | 0 | 0 | 0 | 0 | 0.02431 | 21 | 1 | |
17:43094140 C / T (rs6503410) | 17 | 43094140 | rs6503410 | C | T | p.Ser464Asn | p.Ser464Asn | c.1391G>A | PASS | missense | 42 | 944 | 0.0532 | 0.05 | 0.05 | 0.0093 | 0.0256 | 0.0167 | 0.0375 | 0.0375 | 0.0667 | 0.0385 | 0.1 | 0.04449 | 32 | 5 | |
17:43094236 G / C (rs79588955) | 17 | 43094236 | rs79588955 | G | C | p.Pro432Arg | p.Pro432Arg | c.1295C>G | PASS | missense | 45 | 944 | 0.0479 | 0.0167 | 0.05 | 0.0648 | 0.0897 | 0.05 | 0 | 0.0125 | 0.05 | 0.0897 | 0.0375 | 0.04767 | 41 | 2 | |
17:43094394 C / T | 17 | 43094394 | chr17_43094394_C_T | C | T | p.Met379Ile | p.Met379Ile | c.1137G>A | PASS | missense | 1 | 936 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001068 | 1 | 0 | |
17:43095574 G / A (rs78511019) | 17 | 43095574 | rs78511019 | G | A | c.670+272C>T | PASS | intron | 92 | 944 | 0.1702 | 0.15 | 0.075 | 0.0556 | 0.0769 | 0.0667 | 0.05 | 0.0875 | 0.0667 | 0.0641 | 0.1125 | 0.09746 | 66 | 13 | |||
17:43095639 A / C (rs1471304526) | 17 | 43095639 | rs1471304526 | A | C | c.670+207T>G | PASS | intron | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001055 | 1 | 0 | |||
17:43095789 T / C | 17 | 43095789 | chr17_43095789_T_C | T | C | c.670+57A>G | PASS | intron | 2 | 948 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.002110 | 2 | 0 | |||
17:43095854 G / A (rs2077261) | 17 | 43095854 | rs2077261 | G | A | p.Ala221Val | p.Ala221Val | c.662C>T | PASS | missense | 14 | 948 | 0.0106 | 0.05 | 0.0375 | 0 | 0 | 0.05 | 0.0125 | 0 | 0 | 0 | 0.025 | 0.01477 | 14 | 0 | |
17:43095881 A / AG (rs5820567) | 17 | 43095881 | rs5820567 | A | AG | p.Arg213GlnfsTer3 | p.Arg213GlnfsTer3 | c.634dup | PASS | frameshift | LoF flag | 42 | 942 | 0.0426 | 0.0167 | 0.05 | 0.0463 | 0.1154 | 0.0667 | 0 | 0.025 | 0.0167 | 0.0769 | 0.025 | 0.04459 | 40 | 0 |
17:43096128 G / A (rs894686) | 17 | 43096128 | rs894686 | G | A | c.594-206C>T | PASS | intron | 21 | 940 | 0.0319 | 0.05 | 0.025 | 0.0093 | 0 | 0 | 0 | 0.0125 | 0.0167 | 0.0385 | 0.05 | 0.02234 | 21 | 0 | |||
17:43096217 T / C | 17 | 43096217 | chr17_43096217_T_C | T | C | c.594-295A>G | PASS | intron | 1 | 926 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001080 | 1 | 0 | |||
17:43096229 G / T (rs2337437) | 17 | 43096229 | rs2337437 | G | T | c.594-307C>A | PASS | intron | 24 | 932 | 0.0266 | 0.0333 | 0.05 | 0.0093 | 0 | 0 | 0.0375 | 0.0125 | 0 | 0.0513 | 0.05 | 0.02575 | 20 | 2 | |||
17:43096238 A / T | 17 | 43096238 | chr17_43096238_A_T | A | T | c.594-316T>A | PASS | intron | 1 | 926 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001080 | 1 | 0 | |||
17:43096317 A / C (rs56057160) | 17 | 43096317 | rs56057160 | A | C | c.594-395T>G | PASS | intron | 12 | 940 | 0.016 | 0.0667 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0.05 | 0.01277 | 8 | 2 | |||
17:43096902 C / T (rs554426434) | 17 | 43096902 | rs554426434 | C | T | c.593+342G>A | PASS | intron | 7 | 924 | 0.0053 | 0 | 0 | 0 | 0.0128 | 0 | 0 | 0.025 | 0 | 0.0256 | 0.0125 | 0.007576 | 7 | 0 | |||
17:43097058 ATGACCTTGT / A (rs1321932331) | 17 | 43097058 | rs1321932331 | ATGACCTTGT | A | c.593+177_593+185del | PASS | intron | 1 | 942 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001062 | 1 | 0 | |||
17:43097260 T / C (rs62065780) | 17 | 43097260 | rs62065780 | T | C | p.Lys193Glu | p.Lys193Glu | c.577A>G | PASS | missense | 14 | 948 | 0.016 | 0.05 | 0.0375 | 0 | 0 | 0.0333 | 0.0125 | 0 | 0 | 0 | 0.025 | 0.01477 | 14 | 0 | |
17:43097681 CCA / C (rs5820568) | 17 | 43097681 | rs5820568 | CCA | C | c.548-394_548-393del | PASS | intron | 220 | 942 | 0.2926 | 0.15 | 0.125 | 0.2315 | 0.2821 | 0.3833 | 0.1875 | 0.175 | 0.2167 | 0.2179 | 0.2125 | 0.2335 | 122 | 49 | |||
17:43098002 C / T (rs1052393881) | 17 | 43098002 | rs1052393881 | C | T | c.548-713G>A | PASS | intron | 1 | 940 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001064 | 1 | 0 | |||
17:43098073 GTC / G (rs1330827662) | 17 | 43098073 | rs1330827662 | GTC | G | c.548-786_548-785del | PASS | intron | 1 | 938 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001066 | 1 | 0 | |||
17:43098200 C / G (rs76220584) | 17 | 43098200 | rs76220584 | C | G | c.548-911G>C | PASS | intron | 95 | 688 | 0.1702 | 0.1333 | 0.0375 | 0.1019 | 0.141 | 0.0833 | 0 | 0.05 | 0.1 | 0.1026 | 0.0875 | 0.1381 | 37 | 29 | |||
17:43098822 G / T (rs895572498) | 17 | 43098822 | rs895572498 | G | T | c.547+953C>A | PASS | intron | 3 | 942 | 0 | 0 | 0 | 0.0185 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.003185 | 1 | 1 | |||
17:43099421 G / A | 17 | 43099421 | chr17_43099421_G_A | G | A | c.547+354C>T | PASS | intron | 1 | 930 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001075 | 1 | 0 | |||
17:43099452 T / A (rs1229011695) | 17 | 43099452 | rs1229011695 | T | A | c.547+323A>T | PASS | intron | 1 | 908 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001101 | 1 | 0 | |||
17:43099459 C / A (rs368384265) | 17 | 43099459 | rs368384265 | C | A | c.547+316G>T | PASS | intron | 5 | 910 | 0.016 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.005495 | 5 | 0 | |||
17:43099479 G / A (rs142612546) | 17 | 43099479 | rs142612546 | G | A | c.547+296C>T | PASS | intron | 14 | 912 | 0.0053 | 0 | 0.0125 | 0.0093 | 0.0128 | 0 | 0.025 | 0.05 | 0 | 0 | 0.05 | 0.01535 | 10 | 2 | |||
17:43099514 G / C (rs62065781) | 17 | 43099514 | rs62065781 | G | C | c.547+261C>G | PASS | intron | 9 | 914 | 0.0053 | 0.0667 | 0.0125 | 0 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0.025 | 0.009847 | 9 | 0 | |||
17:43099624 C / T (rs62065782) | 17 | 43099624 | rs62065782 | C | T | c.547+151G>A | PASS | intron | 10 | 944 | 0.0053 | 0.0167 | 0.025 | 0 | 0 | 0.0167 | 0.025 | 0 | 0 | 0 | 0.0375 | 0.01059 | 8 | 1 | |||
17:43099873 GTA / G (rs3833141) | 17 | 43099873 | rs3833141 | GTA | G | p.Glu149AspfsTer9 | p.Glu149AspfsTer9 | c.447_448del | PASS | frameshift | 6 | 950 | 0 | 0.0333 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.05 | 0 | 0 | 0.006316 | 4 | 1 | |
17:43100070 T / C (rs3744474) | 17 | 43100070 | rs3744474 | T | C | c.442-190A>G | PASS | intron | 171 | 940 | 0.1915 | 0.05 | 0.1125 | 0.1389 | 0.2436 | 0.2833 | 0.2 | 0.125 | 0.2167 | 0.2179 | 0.2 | 0.1819 | 117 | 27 | |||
17:43100566 C / G (rs7220212) | 17 | 43100566 | rs7220212 | C | G | c.442-686G>C | PASS | intron | 19 | 946 | 0.0319 | 0.05 | 0.0125 | 0.0093 | 0.0256 | 0 | 0.0125 | 0 | 0.0167 | 0.0128 | 0.0375 | 0.02008 | 17 | 1 | |||
17:43100630 A / C | 17 | 43100630 | chr17_43100630_A_C | A | C | c.442-750T>G | PASS | intron | 1 | 940 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001064 | 1 | 0 | |||
17:43100831 A / C (rs12568) | 17 | 43100831 | rs12568 | A | C | c.442-951T>G | PASS | intron | 20 | 914 | 0.0266 | 0.0667 | 0.0125 | 0 | 0 | 0 | 0.0125 | 0.0125 | 0.0167 | 0.0513 | 0.0375 | 0.02188 | 18 | 1 | |||
17:43100971 T / TAAA (rs1413268051) | 17 | 43100971 | rs1413268051 | T | TAAA | c.442-1092_442-1091insTTT | PASS | intron | 13 | 454 | 0.016 | 0.0833 | 0.025 | 0 | 0 | 0 | 0 | 0.025 | 0 | 0.0128 | 0 | 0.02863 | 14 | 21 | |||
17:43100971 T / TA (rs1413268051) | 17 | 43100971 | rs1413268051 | T | TA | c.442-1092_442-1091insTTT | PASS | intron | 29 | 454 | 0.016 | 0.0833 | 0.025 | 0 | 0 | 0 | 0 | 0.025 | 0 | 0.0128 | 0 | 0.06388 | 14 | 21 | |||
17:43100971 T / TAA (rs1413268051) | 17 | 43100971 | rs1413268051 | T | TAA | c.442-1092_442-1091insTTT | PASS | intron | 11 | 454 | 0.016 | 0.0833 | 0.025 | 0 | 0 | 0 | 0 | 0.025 | 0 | 0.0128 | 0 | 0.02423 | 14 | 21 | |||
17:43100971 TAAAAAA / T (rs1413268051) | 17 | 43100971 | rs1413268051 | TAAAAAA | T | c.442-1092_442-1091insTTT | PASS | intron | 4 | 454 | 0.016 | 0.0833 | 0.025 | 0 | 0 | 0 | 0 | 0.025 | 0 | 0.0128 | 0 | 0.008811 | 14 | 21 | |||
17:43101281 A / C (rs7225735) | 17 | 43101281 | rs7225735 | A | C | c.442-1401T>G | PASS | intron | 275 | 924 | 0.3989 | 0.3333 | 0.2125 | 0.1944 | 0.2564 | 0.3167 | 0.2625 | 0.225 | 0.25 | 0.2821 | 0.3375 | 0.2976 | 141 | 67 | |||
17:43101382 C / T (rs7225329) | 17 | 43101382 | rs7225329 | C | T | c.442-1502G>A | PASS | intron | 265 | 912 | 0.3723 | 0.3 | 0.2125 | 0.1667 | 0.2436 | 0.3667 | 0.3125 | 0.1875 | 0.25 | 0.2692 | 0.3125 | 0.2906 | 149 | 58 | |||
17:43101558 G / A (rs143760909) | 17 | 43101558 | rs143760909 | G | A | c.442-1678C>T | PASS | intron | 1 | 944 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001059 | 1 | 0 | |||
17:43101586 T / C (rs9899209) | 17 | 43101586 | rs9899209 | T | C | c.442-1706A>G | PASS | intron | 774 | 778 | 0.8723 | 0.7667 | 0.85 | 0.8704 | 0.8205 | 0.8333 | 0.7 | 0.625 | 0.9 | 0.7564 | 0.8625 | 0.9949 | 2 | 386 | |||
17:43101707 G / * | 17 | 43101707 | chr17_43101707_G_*,GT | G | * | c.442-1828_442-1827insA | PASS | intron | 440 | 616 | 0.516 | 0.5 | 0.525 | 0.5093 | 0.4103 | 0.3833 | 0.2875 | 0.4 | 0.5667 | 0.4615 | 0.45 | 0.7143 | 40 | 188 | |||
17:43101707 G / GT | 17 | 43101707 | chr17_43101707_G_*,GT | G | GT | c.442-1828_442-1827insA | PASS | intron | 4 | 616 | 0.516 | 0.5 | 0.525 | 0.5093 | 0.4103 | 0.3833 | 0.2875 | 0.4 | 0.5667 | 0.4615 | 0.45 | 0.006494 | 40 | 188 | |||
17:43102286 A / C (rs730953) | 17 | 43102286 | rs730953 | A | C | c.441+1836T>G | PASS | intron | 236 | 880 | 0.3298 | 0.2667 | 0.1625 | 0.1852 | 0.2692 | 0.25 | 0.2375 | 0.175 | 0.1833 | 0.2308 | 0.3375 | 0.2682 | 105 | 65 | |||
17:43102540 C / T (rs377001119) | 17 | 43102540 | rs377001119 | C | T | c.441+1582G>A | PASS | intron | 12 | 940 | 0 | 0.0167 | 0 | 0 | 0.0513 | 0.0333 | 0 | 0.025 | 0.0333 | 0.0128 | 0 | 0.01277 | 12 | 0 | |||
17:43102588 C / T (rs708381) | 17 | 43102588 | rs708381 | C | T | c.441+1534G>A | PASS | intron | 270 | 932 | 0.4043 | 0.3 | 0.1875 | 0.1944 | 0.2821 | 0.35 | 0.2875 | 0.15 | 0.2167 | 0.2949 | 0.325 | 0.2897 | 136 | 67 | |||
17:43102614 C / CT | 17 | 43102614 | chr17_43102614_C_CT | C | CT | c.441+1507dup | PASS | intron | 1 | 936 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001068 | 1 | 0 | |||
17:43103000 A / G (rs1365917828) | 17 | 43103000 | rs1365917828 | A | G | c.441+1122T>C | PASS | intron | 1 | 940 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001064 | 1 | 0 | |||
17:43103008 G / A (rs11868071) | 17 | 43103008 | rs11868071 | G | A | c.441+1114C>T | PASS | intron | 41 | 942 | 0.0426 | 0.0167 | 0.075 | 0.0463 | 0.0769 | 0.05 | 0 | 0.0375 | 0.0333 | 0.0641 | 0.025 | 0.04352 | 29 | 6 | |||
17:43103112 CTTTTTT / C (rs1469409175) | 17 | 43103112 | rs1469409175 | CTTTTTT | C | c.441+1004_441+1009del | PASS | intron | 161 | 624 | 0.2766 | 0.1333 | 0.075 | 0.0926 | 0.2436 | 0.15 | 0.1125 | 0.0875 | 0.2333 | 0.1282 | 0.2125 | 0.2580 | 64 | 90 | |||
17:43103112 CT / C (rs1469409175) | 17 | 43103112 | rs1469409175 | CT | C | c.441+1004_441+1009del | PASS | intron | 69 | 624 | 0.2766 | 0.1333 | 0.075 | 0.0926 | 0.2436 | 0.15 | 0.1125 | 0.0875 | 0.2333 | 0.1282 | 0.2125 | 0.1106 | 64 | 90 | |||
17:43103112 CTTTTT / C (rs1469409175) | 17 | 43103112 | rs1469409175 | CTTTTT | C | c.441+1004_441+1009del | PASS | intron | 8 | 624 | 0.2766 | 0.1333 | 0.075 | 0.0926 | 0.2436 | 0.15 | 0.1125 | 0.0875 | 0.2333 | 0.1282 | 0.2125 | 0.01282 | 64 | 90 | |||
17:43103112 CTTTTTTT / C (rs1469409175) | 17 | 43103112 | rs1469409175 | CTTTTTTT | C | c.441+1004_441+1009del | PASS | intron | 8 | 624 | 0.2766 | 0.1333 | 0.075 | 0.0926 | 0.2436 | 0.15 | 0.1125 | 0.0875 | 0.2333 | 0.1282 | 0.2125 | 0.01282 | 64 | 90 | |||
17:43103112 CTT / C (rs1469409175) | 17 | 43103112 | rs1469409175 | CTT | C | c.441+1004_441+1009del | PASS | intron | 10 | 624 | 0.2766 | 0.1333 | 0.075 | 0.0926 | 0.2436 | 0.15 | 0.1125 | 0.0875 | 0.2333 | 0.1282 | 0.2125 | 0.01603 | 64 | 90 | |||
17:43103905 A / G (rs55933307) | 17 | 43103905 | rs55933307 | A | G | c.441+217T>C | PASS | intron | 13 | 938 | 0.0106 | 0.0333 | 0.05 | 0 | 0 | 0.0333 | 0.0125 | 0 | 0 | 0 | 0.025 | 0.01386 | 11 | 1 | |||
17:43104096 G / A (rs1056884245) | 17 | 43104096 | rs1056884245 | G | A | c.441+26C>T | PASS | intron | 1 | 950 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001053 | 1 | 0 | |||
17:43104117 T / C | 17 | 43104117 | chr17_43104117_T_C | T | C | c.441+5A>G | c.441+5A>G | PASS | splice region | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001055 | 1 | 0 | ||
17:43104307 A / G (rs975834320) | 17 | 43104307 | rs975834320 | A | G | c.302-46T>C | PASS | intron | 3 | 950 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.0125 | 0 | 0.0167 | 0 | 0 | 0.003158 | 3 | 0 | |||
17:43104469 A / G (rs62065786) | 17 | 43104469 | rs62065786 | A | G | c.302-208T>C | PASS | intron | 298 | 942 | 0.4468 | 0.35 | 0.225 | 0.2037 | 0.3077 | 0.3833 | 0.275 | 0.2125 | 0.2833 | 0.2949 | 0.3375 | 0.3163 | 160 | 69 | |||
17:43104801 C / T (rs1366408382) | 17 | 43104801 | rs1366408382 | C | T | c.301+67G>A | PASS | intron | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0.001055 | 1 | 0 | |||
17:43105007 C / G (rs112275462) | 17 | 43105007 | rs112275462 | C | G | c.213-51G>C | PASS | intron | 12 | 948 | 0.0053 | 0 | 0 | 0.0093 | 0.0256 | 0 | 0.05 | 0.0125 | 0.0167 | 0 | 0.025 | 0.01266 | 10 | 1 | |||
17:43105037 C / T (rs1051561640) | 17 | 43105037 | rs1051561640 | C | T | c.213-81G>A | PASS | intron | 1 | 946 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001057 | 1 | 0 | |||
17:43105210 C / T (rs145014961) | 17 | 43105210 | rs145014961 | C | T | c.213-254G>A | PASS | intron | 68 | 910 | 0.0851 | 0.0333 | 0.05 | 0.0926 | 0.0641 | 0.05 | 0.025 | 0.1125 | 0.05 | 0.0641 | 0.1125 | 0.07473 | 46 | 11 | |||
17:43105226 C / A (rs1279125144) | 17 | 43105226 | rs1279125144 | C | A | c.213-270G>T | PASS | intron | 4 | 924 | 0.0213 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.004329 | 4 | 0 | |||
17:43105631 G / C (rs62065787) | 17 | 43105631 | rs62065787 | G | C | c.213-675C>G | PASS | intron | 268 | 888 | 0.3936 | 0.35 | 0.2625 | 0.1944 | 0.2308 | 0.35 | 0.2875 | 0.1375 | 0.2 | 0.2436 | 0.3375 | 0.3018 | 129 | 69 | |||
17:43105730 G / A (rs140777775) | 17 | 43105730 | rs140777775 | G | A | c.212+726C>T | PASS | intron | 61 | 938 | 0.1489 | 0.15 | 0.05 | 0.0463 | 0.0256 | 0.05 | 0 | 0.025 | 0.0333 | 0.0256 | 0.05 | 0.06503 | 41 | 10 | |||
17:43105777 CT / C (rs545681429) | 17 | 43105777 | rs545681429 | CT | C | c.212+678del | PASS | intron | 22 | 932 | 0.0532 | 0 | 0 | 0.0278 | 0.0256 | 0 | 0.0125 | 0 | 0.0667 | 0.0128 | 0.0125 | 0.02361 | 33 | 1 | |||
17:43105777 C / CT (rs545681429) | 17 | 43105777 | rs545681429 | C | CT | c.212+678del | PASS | intron | 13 | 932 | 0.0532 | 0 | 0 | 0.0278 | 0.0256 | 0 | 0.0125 | 0 | 0.0667 | 0.0128 | 0.0125 | 0.01395 | 33 | 1 | |||
17:43106349 AG / A | 17 | 43106349 | chr17_43106349_AG_A | AG | A | c.212+106del | PASS | intron | 5 | 944 | 0.0213 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.005297 | 5 | 0 | |||
17:43106394 T / A (rs7209081) | 17 | 43106394 | rs7209081 | T | A | c.212+62A>T | PASS | intron | 22 | 944 | 0.0266 | 0.05 | 0.025 | 0.0093 | 0 | 0 | 0.0125 | 0.0125 | 0.0167 | 0.0513 | 0.05 | 0.02331 | 18 | 2 | |||
17:43106844 T / C (rs4413004) | 17 | 43106844 | rs4413004 | T | C | c.135-311A>G | PASS | intron | 292 | 934 | 0.4309 | 0.3667 | 0.225 | 0.2315 | 0.2821 | 0.35 | 0.2375 | 0.225 | 0.2833 | 0.2949 | 0.325 | 0.3126 | 163 | 64 | |||
17:43107183 C / T | 17 | 43107183 | chr17_43107183_C_T | C | T | c.135-650G>A | PASS | intron | 2 | 946 | 0 | 0 | 0.025 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.002114 | 2 | 0 | |||
17:43107449 TAC / T (rs72255860) | 17 | 43107449 | rs72255860 | TAC | T | c.135-918_135-917del | PASS | intron | 25 | 948 | 0.0319 | 0.0833 | 0.0375 | 0.0093 | 0 | 0 | 0.025 | 0.025 | 0 | 0.0385 | 0.0375 | 0.02637 | 21 | 2 | |||
17:43107560 T / A | 17 | 43107560 | chr17_43107560_T_A | T | A | c.135-1027A>T | PASS | intron | 1 | 940 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001064 | 1 | 0 | |||
17:43107589 C / T (rs73311379) | 17 | 43107589 | rs73311379 | C | T | c.135-1056G>A | PASS | intron | 28 | 946 | 0.0426 | 0.0667 | 0.05 | 0 | 0 | 0 | 0.025 | 0 | 0.0333 | 0.0513 | 0.05 | 0.02960 | 20 | 4 | |||
17:43107891 G / A (rs141901220) | 17 | 43107891 | rs141901220 | G | A | c.135-1358C>T | PASS | intron | 22 | 940 | 0.016 | 0 | 0.0125 | 0.037 | 0 | 0.0333 | 0.025 | 0.025 | 0.0333 | 0.0385 | 0.0375 | 0.02340 | 18 | 2 | |||
17:43107951 G / A | 17 | 43107951 | chr17_43107951_G_A | G | A | c.135-1418C>T | PASS | intron | 1 | 946 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.001057 | 1 | 0 | |||
17:43107988 T / G (rs1001382595) | 17 | 43107988 | rs1001382595 | T | G | c.135-1455A>C | PASS | intron | 2 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.0125 | 0 | 0 | 0 | 0.002110 | 2 | 0 | |||
17:43108011 A / G (rs1011775712) | 17 | 43108011 | rs1011775712 | A | G | c.135-1478T>C | PASS | intron | 1 | 948 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001055 | 1 | 0 | |||
17:43108108 A / T | 17 | 43108108 | chr17_43108108_A_T | A | T | c.135-1575T>A | PASS | intron | 1 | 950 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001053 | 1 | 0 | |||
17:43108208 G / A (rs79811178) | 17 | 43108208 | rs79811178 | G | A | c.135-1675C>T | PASS | intron | 11 | 944 | 0 | 0 | 0 | 0.0093 | 0.0256 | 0 | 0.0125 | 0.0375 | 0.0167 | 0 | 0.0375 | 0.01165 | 11 | 0 | |||
17:43108349 C / T (rs187803162) | 17 | 43108349 | rs187803162 | C | T | c.135-1816G>A | PASS | intron | 2 | 944 | 0 | 0 | 0.025 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.002119 | 2 | 0 | |||
17:43108470 G / A (rs62065788) | 17 | 43108470 | rs62065788 | G | A | c.135-1937C>T | PASS | intron | 12 | 940 | 0.0106 | 0.0333 | 0.025 | 0 | 0 | 0.05 | 0.0125 | 0 | 0 | 0 | 0.025 | 0.01277 | 12 | 0 | |||
17:43108705 A / G (rs7216522) | 17 | 43108705 | rs7216522 | A | G | c.135-2172T>C | PASS | intron | 41 | 920 | 0.0479 | 0.0833 | 0.075 | 0.0185 | 0 | 0.0167 | 0.0625 | 0.025 | 0.0167 | 0.0513 | 0.075 | 0.04457 | 29 | 6 | |||
17:43108831 G / A (rs1354658370) | 17 | 43108831 | rs1354658370 | G | A | c.135-2298C>T | PASS | intron | 1 | 950 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001053 | 1 | 0 | |||
17:43108899 G / C (rs12450587) | 17 | 43108899 | rs12450587 | G | C | c.135-2366C>G | PASS | intron | 15 | 944 | 0.0053 | 0.0667 | 0.0375 | 0 | 0 | 0.0333 | 0.0125 | 0 | 0 | 0 | 0.05 | 0.01589 | 11 | 2 | |||
17:43109057 C / T (rs77323994) | 17 | 43109057 | rs77323994 | C | T | c.135-2524G>A | PASS | intron | 64 | 932 | 0.1543 | 0.1833 | 0.0375 | 0.0185 | 0.0385 | 0.0833 | 0 | 0.025 | 0.0667 | 0.0256 | 0.0375 | 0.06867 | 38 | 13 | |||
17:43110125 T / TG (rs146184102) | 17 | 43110125 | rs146184102 | T | TG | c.135-3593dup | PASS | intron | 22 | 936 | 0.0319 | 0.0667 | 0.0375 | 0 | 0 | 0 | 0.025 | 0.0125 | 0.0167 | 0.0128 | 0.05 | 0.02350 | 22 | 0 | |||
17:43110149 C / CA (rs1199850455) | 17 | 43110149 | rs1199850455 | C | CA | c.135-3617dup | PASS | intron | 21 | 934 | 0.0213 | 0.05 | 0.0125 | 0.0093 | 0 | 0.0167 | 0.05 | 0.0125 | 0.0333 | 0 | 0.05 | 0.02248 | 31 | 4 | |||
17:43110149 CA / C (rs1199850455) | 17 | 43110149 | rs1199850455 | CA | C | c.135-3617dup | PASS | intron | 18 | 934 | 0.0213 | 0.05 | 0.0125 | 0.0093 | 0 | 0.0167 | 0.05 | 0.0125 | 0.0333 | 0 | 0.05 | 0.01927 | 31 | 4 | |||
17:43110304 G / T (rs949014737) | 17 | 43110304 | rs949014737 | G | T | c.135-3771C>A | PASS | intron | 3 | 938 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.003198 | 3 | 0 | |||
17:43110549 A / AAAAAT (rs10628158) | 17 | 43110549 | rs10628158 | A | AAAAAT | c.135-4021_135-4017dup | PASS | intron | 155 | 934 | 0.2234 | 0.1833 | 0.125 | 0.1481 | 0.2051 | 0.1833 | 0.1125 | 0.1 | 0.15 | 0.1538 | 0.1375 | 0.1660 | 73 | 46 | |||
17:43110549 A / AAAAATAAAAT (rs10628158) | 17 | 43110549 | rs10628158 | A | AAAAATAAAAT | c.135-4021_135-4017dup | PASS | intron | 13 | 934 | 0.2234 | 0.1833 | 0.125 | 0.1481 | 0.2051 | 0.1833 | 0.1125 | 0.1 | 0.15 | 0.1538 | 0.1375 | 0.01392 | 73 | 46 | |||
17:43110840 C / CT (rs148853557) | 17 | 43110840 | rs148853557 | C | CT | c.135-4308dup | PASS | intron | 65 | 946 | 0.1436 | 0.1667 | 0.05 | 0.037 | 0.0385 | 0.0667 | 0 | 0.0625 | 0.0333 | 0.0385 | 0.0375 | 0.06871 | 49 | 8 | |||
17:43110895 C / T | 17 | 43110895 | chr17_43110895_C_T | C | T | c.135-4362G>A | PASS | intron | 20 | 946 | 0.0372 | 0.1 | 0 | 0 | 0.0897 | 0 | 0 | 0 | 0 | 0 | 0 | 0.02114 | 20 | 0 | |||
17:43110904 T / C | 17 | 43110904 | chr17_43110904_T_C | T | C | c.135-4371A>G | PASS | intron | 2 | 946 | 0.0053 | 0 | 0 | 0 | 0.0128 | 0 | 0 | 0 | 0 | 0 | 0 | 0.002114 | 2 | 0 | |||
17:43111154 A / G (rs10451271) | 17 | 43111154 | rs10451271 | A | G | c.134+4572T>C | PASS | intron | 48 | 948 | 0.0532 | 0.1333 | 0.075 | 0.0093 | 0 | 0.05 | 0.075 | 0.0125 | 0.0167 | 0.0513 | 0.1 | 0.05063 | 41 | 0 | |||
17:43111162 A / G (rs9303432) | 17 | 43111162 | rs9303432 | A | G | c.134+4564T>C | PASS | intron | 827 | 932 | 0.8989 | 0.85 | 0.85 | 0.9444 | 0.8333 | 1 | 0.9375 | 0.7875 | 0.7333 | 0.8077 | 0.8375 | 0.8873 | 104 | 343 | |||
17:43111558 G / A (rs117298907) | 17 | 43111558 | rs117298907 | G | A | c.134+4168C>T | PASS | intron | 60 | 918 | 0.1649 | 0.1167 | 0.05 | 0.0185 | 0.0256 | 0.05 | 0 | 0.025 | 0.0333 | 0.0128 | 0.075 | 0.06536 | 34 | 13 | |||
17:43111688 G / A (rs9900173) | 17 | 43111688 | rs9900173 | G | A | c.134+4038C>T | PASS | intron | 210 | 892 | 0.1702 | 0.2 | 0.2375 | 0.2407 | 0.3205 | 0.3 | 0.1625 | 0.1875 | 0.1833 | 0.2436 | 0.25 | 0.2354 | 111 | 49 | |||
17:43111709 G / C (rs779603355) | 17 | 43111709 | rs779603355 | G | C | c.134+4017C>G | PASS | intron | 1 | 942 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001062 | 1 | 0 | |||
17:43111802 G / A (rs565333243) | 17 | 43111802 | rs565333243 | G | A | c.134+3924C>T | PASS | intron | 1 | 918 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001089 | 1 | 0 | |||
17:43111929 C / A (rs146833498) | 17 | 43111929 | rs146833498 | C | A | c.134+3797G>T | PASS | intron | 19 | 930 | 0.0319 | 0 | 0.0375 | 0.0185 | 0.0128 | 0.1167 | 0 | 0 | 0 | 0 | 0 | 0.02043 | 17 | 1 | |||
17:43112142 C / T (rs200063436) | 17 | 43112142 | rs200063436 | C | T | c.134+3584G>A | PASS | intron | 1 | 944 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001059 | 1 | 0 | |||
17:43112748 C / T (rs1299944222) | 17 | 43112748 | rs1299944222 | C | T | c.134+2978G>A | PASS | intron | 2 | 930 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.025 | 0 | 0 | 0 | 0.002151 | 0 | 1 | |||
17:43112822 CG / C (rs10714830) | 17 | 43112822 | rs10714830 | CG | C | c.134+2903del | PASS | intron | 186 | 844 | 0.2926 | 0.3 | 0.1125 | 0.1204 | 0.2051 | 0.25 | 0.0875 | 0.1125 | 0.1667 | 0.1923 | 0.2375 | 0.2204 | 93 | 45 | |||
17:43112835 A / G (rs7219243) | 17 | 43112835 | rs7219243 | A | G | c.134+2891T>C | PASS | intron | 18 | 890 | 0.0319 | 0.05 | 0.0375 | 0 | 0 | 0 | 0 | 0.0125 | 0.0167 | 0.0256 | 0.025 | 0.02022 | 16 | 0 | |||
17:43113191 C / T (rs77243960) | 17 | 43113191 | rs77243960 | C | T | c.134+2535G>A | PASS | intron | 233 | 934 | 0.3457 | 0.25 | 0.0875 | 0.1759 | 0.2949 | 0.3167 | 0.225 | 0.2 | 0.1667 | 0.2692 | 0.25 | 0.2495 | 180 | 0 | |||
17:43113192 C / G (rs75622696) | 17 | 43113192 | rs75622696 | C | G | c.134+2534G>C | PASS | intron | 233 | 934 | 0.3457 | 0.25 | 0.0875 | 0.1759 | 0.2949 | 0.3167 | 0.225 | 0.2 | 0.1667 | 0.2692 | 0.25 | 0.2495 | 180 | 0 | |||
17:43113236 G / C | 17 | 43113236 | chr17_43113236_G_C | G | C | c.134+2490C>G | PASS | intron | 1 | 944 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.001059 | 1 | 0 | |||
17:43113647 G / A (rs1183002586) | 17 | 43113647 | rs1183002586 | G | A | c.134+2079C>T | PASS | intron | 4 | 946 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.004228 | 2 | 1 | |||
17:43113795 A / T (rs59835134) | 17 | 43113795 | rs59835134 | A | T | c.134+1931T>A | PASS | intron | 25 | 944 | 0.0319 | 0.05 | 0.0375 | 0.0093 | 0 | 0 | 0.05 | 0.0125 | 0.0167 | 0.0385 | 0.0375 | 0.02648 | 23 | 1 | |||
17:43113879 G / A (rs76358396) | 17 | 43113879 | rs76358396 | G | A | c.134+1847C>T | PASS | intron | 107 | 918 | 0.117 | 0.05 | 0.075 | 0.0926 | 0.0769 | 0.15 | 0.225 | 0.0625 | 0.1 | 0.141 | 0.1375 | 0.1166 | 79 | 14 | |||
17:43113887 G / GA (rs1436991891) | 17 | 43113887 | rs1436991891 | G | GA | c.134+1838dup | PASS | intron | 4 | 940 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0.0128 | 0.0125 | 0.004255 | 5 | 0 | |||
17:43113994 T / C (rs190833208) | 17 | 43113994 | rs190833208 | T | C | c.134+1732A>G | PASS | intron | 2 | 950 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.0125 | 0 | 0 | 0 | 0.002105 | 2 | 0 | |||
17:43114028 G / GA (rs538393645) | 17 | 43114028 | rs538393645 | G | GA | c.134+1697dup | PASS | intron | 3 | 946 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0.0125 | 0.003171 | 10 | 0 | |||
17:43114028 GA / G (rs538393645) | 17 | 43114028 | rs538393645 | GA | G | c.134+1697dup | PASS | intron | 7 | 946 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0.0125 | 0.007400 | 10 | 0 | |||
17:43114314 C / G | 17 | 43114314 | chr17_43114314_C_G | C | G | c.134+1412G>C | PASS | intron | 4 | 950 | 0 | 0 | 0 | 0 | 0.0513 | 0 | 0 | 0 | 0 | 0 | 0 | 0.004211 | 4 | 0 | |||
17:43114333 C / T (rs75648943) | 17 | 43114333 | rs75648943 | C | T | c.134+1393G>A | PASS | intron | 16 | 946 | 0.0053 | 0 | 0.0125 | 0.0185 | 0.0256 | 0.0167 | 0.0125 | 0.0375 | 0.0167 | 0 | 0.05 | 0.01691 | 12 | 2 | |||
17:43114562 C / A (rs182598199) | 17 | 43114562 | rs182598199 | C | A | c.134+1164G>T | PASS | intron | 8 | 946 | 0.0106 | 0 | 0.0125 | 0 | 0 | 0.0167 | 0.05 | 0 | 0 | 0 | 0 | 0.008457 | 6 | 1 | |||
17:43114659 C / T (rs72830981) | 17 | 43114659 | rs72830981 | C | T | c.134+1067G>A | PASS | intron | 16 | 950 | 0.0213 | 0.05 | 0.0375 | 0 | 0 | 0.05 | 0 | 0 | 0 | 0 | 0.0375 | 0.01684 | 14 | 1 | |||
17:43114681 A / AATAT | 17 | 43114681 | chr17_43114681_A_AATAT | A | AATAT | c.134+1044_134+1045insATAT | PASS | intron | 1 | 946 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001057 | 1 | 0 | |||
17:43114829 AT / A (rs1161686521) | 17 | 43114829 | rs1161686521 | AT | A | c.134+896del | PASS | intron | 5 | 946 | 0.0106 | 0 | 0 | 0 | 0.0128 | 0 | 0.0125 | 0.0125 | 0 | 0 | 0 | 0.005285 | 5 | 0 | |||
17:43114841 T / C (rs529167960) | 17 | 43114841 | rs529167960 | T | C | c.134+885A>G | PASS | intron | 2 | 946 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.002114 | 2 | 0 | |||
17:43114858 CTT / C (rs577399370) | 17 | 43114858 | rs577399370 | CTT | C | c.134+866_134+867del | PASS | intron | 4 | 948 | 0 | 0 | 0 | 0.0093 | 0 | 0.0333 | 0.0125 | 0 | 0 | 0 | 0 | 0.004219 | 2 | 1 | |||
17:43114943 C / A (rs12450063) | 17 | 43114943 | rs12450063 | C | A | c.134+783G>T | PASS | intron | 8 | 934 | 0.0106 | 0 | 0.0375 | 0 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0.025 | 0.008565 | 8 | 0 | |||
17:43115135 CT / C | 17 | 43115135 | chr17_43115135_CTTT_CTT,CT,C | CT | C | c.134+590del | PASS | intron | 36 | 924 | 0.0585 | 0 | 0.0625 | 0.0463 | 0.0256 | 0.0667 | 0.0375 | 0.0125 | 0.05 | 0.0128 | 0.0125 | 0.03896 | 44 | 0 | |||
17:43115135 CTT / C | 17 | 43115135 | chr17_43115135_CTTT_CTT,CT,C | CTT | C | c.134+590del | PASS | intron | 6 | 924 | 0.0585 | 0 | 0.0625 | 0.0463 | 0.0256 | 0.0667 | 0.0375 | 0.0125 | 0.05 | 0.0128 | 0.0125 | 0.006494 | 44 | 0 | |||
17:43115135 CTTT / C | 17 | 43115135 | chr17_43115135_CTTT_CTT,CT,C | CTTT | C | c.134+590del | PASS | intron | 2 | 924 | 0.0585 | 0 | 0.0625 | 0.0463 | 0.0256 | 0.0667 | 0.0375 | 0.0125 | 0.05 | 0.0128 | 0.0125 | 0.002165 | 44 | 0 | |||
17:43115263 T / G (rs6503411) | 17 | 43115263 | rs6503411 | T | G | c.134+463A>C | PASS | intron | 21 | 934 | 0.0319 | 0.0667 | 0.0375 | 0 | 0 | 0 | 0.0375 | 0 | 0.0167 | 0.0128 | 0.0375 | 0.02248 | 15 | 3 | |||
17:43115430 C / G (rs527347521) | 17 | 43115430 | rs527347521 | C | G | c.134+296G>C | PASS | intron | 3 | 942 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0.025 | 0.003185 | 3 | 0 | |||
17:43115503 G / A (rs140960109) | 17 | 43115503 | rs140960109 | G | A | c.134+223C>T | PASS | intron | 4 | 946 | 0.0213 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.004228 | 2 | 1 | |||
17:43115601 T / G (rs7220106) | 17 | 43115601 | rs7220106 | T | G | c.134+125A>C | PASS | intron | 40 | 948 | 0.0426 | 0.15 | 0.075 | 0.0093 | 0 | 0.0333 | 0.0625 | 0.0125 | 0.0167 | 0.0385 | 0.05 | 0.04219 | 34 | 3 | |||
17:43115700 C / A (rs74252802) | 17 | 43115700 | rs74252802 | C | A | c.134+26G>T | PASS | intron | 104 | 932 | 0.1011 | 0.0833 | 0.0875 | 0.1574 | 0.0769 | 0.0667 | 0.2 | 0.125 | 0.1333 | 0.1154 | 0.0375 | 0.1116 | 80 | 12 | |||
17:43115918 A / G (rs1371842063) | 17 | 43115918 | rs1371842063 | A | G | c.81-139T>C | PASS | intron | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001055 | 1 | 0 | |||
17:43115942 C / T (rs560685367) | 17 | 43115942 | rs560685367 | C | T | c.81-163G>A | PASS | intron | 1 | 946 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001057 | 1 | 0 | |||
17:43116171 C / T (rs902435743) | 17 | 43116171 | rs902435743 | C | T | c.81-392G>A | PASS | intron | 51 | 950 | 0.1489 | 0.15 | 0.0375 | 0.0093 | 0.0513 | 0.0667 | 0 | 0 | 0.0333 | 0 | 0 | 0.05368 | 31 | 10 | |||
17:43116313 C / T (rs9898793) | 17 | 43116313 | rs9898793 | C | T | c.81-534G>A | PASS | intron | 259 | 944 | 0.2181 | 0.1833 | 0.3125 | 0.3611 | 0.3205 | 0.2667 | 0.2125 | 0.3 | 0.1833 | 0.3077 | 0.325 | 0.2744 | 157 | 51 | |||
17:43117058 C / T | 17 | 43117058 | chr17_43117058_C_T | C | T | c.81-1279G>A | PASS | intron | 1 | 948 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001055 | 1 | 0 | |||
17:43117238 A / G (rs141298600) | 17 | 43117238 | rs141298600 | A | G | c.81-1459T>C | PASS | intron | 69 | 942 | 0.1489 | 0.1833 | 0.05 | 0.0278 | 0.0513 | 0.0667 | 0 | 0.0625 | 0.05 | 0.0385 | 0.05 | 0.07325 | 51 | 9 | |||
17:43117438 G / A (rs142477668) | 17 | 43117438 | rs142477668 | G | A | c.81-1659C>T | PASS | intron | 6 | 938 | 0.0106 | 0 | 0 | 0.0093 | 0.0385 | 0 | 0 | 0 | 0 | 0 | 0 | 0.006397 | 6 | 0 | |||
17:43117462 CA / C (rs1386509998) | 17 | 43117462 | rs1386509998 | CA | C | c.81-1684del | PASS | intron | 8 | 924 | 0.016 | 0 | 0 | 0 | 0.0256 | 0.0167 | 0 | 0 | 0 | 0.0128 | 0.0125 | 0.008658 | 24 | 1 | |||
17:43117462 C / CA (rs1386509998) | 17 | 43117462 | rs1386509998 | C | CA | c.81-1684del | PASS | intron | 18 | 924 | 0.016 | 0 | 0 | 0 | 0.0256 | 0.0167 | 0 | 0 | 0 | 0.0128 | 0.0125 | 0.01948 | 24 | 1 | |||
17:43117476 C / T (rs12603364) | 17 | 43117476 | rs12603364 | C | T | c.81-1697G>A | PASS | intron | 29 | 930 | 0.0372 | 0 | 0.0375 | 0.0278 | 0.0513 | 0.0833 | 0 | 0 | 0.0167 | 0.0641 | 0.0125 | 0.03118 | 25 | 2 | |||
17:43117581 C / T (rs113644109) | 17 | 43117581 | rs113644109 | C | T | c.81-1802G>A | PASS | intron | 20 | 936 | 0.0319 | 0.0667 | 0.025 | 0.0093 | 0 | 0 | 0 | 0.0125 | 0.0167 | 0.0256 | 0.0375 | 0.02137 | 20 | 0 | |||
17:43117749 C / A (rs536111955) | 17 | 43117749 | rs536111955 | C | A | c.81-1970G>T | PASS | intron | 13 | 918 | 0.0106 | 0 | 0 | 0.0093 | 0.0385 | 0 | 0.025 | 0.0375 | 0.0167 | 0 | 0.0125 | 0.01416 | 9 | 2 | |||
17:43117813 T / C (rs8078303) | 17 | 43117813 | rs8078303 | T | C | c.81-2034A>G | PASS | intron | 185 | 920 | 0.3032 | 0.1167 | 0.1125 | 0.1574 | 0.2051 | 0.2667 | 0.1 | 0.15 | 0.2 | 0.2051 | 0.1875 | 0.2011 | 93 | 46 | |||
17:43117834 C / G (rs1391733126) | 17 | 43117834 | rs1391733126 | C | G | c.81-2055G>C | PASS | intron | 1 | 940 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001064 | 1 | 0 | |||
17:43117875 G / A (rs1204402876) | 17 | 43117875 | rs1204402876 | G | A | c.81-2096C>T | PASS | intron | 1 | 940 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001064 | 1 | 0 | |||
17:43118067 A / C | 17 | 43118067 | chr17_43118067_A_C | A | C | c.81-2288T>G | PASS | intron | 1 | 946 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001057 | 1 | 0 | |||
17:43118177 T / C (rs9915259) | 17 | 43118177 | rs9915259 | T | C | c.81-2398A>G | PASS | intron | 241 | 932 | 0.3617 | 0.25 | 0.1375 | 0.1759 | 0.2692 | 0.35 | 0.2 | 0.2 | 0.2333 | 0.2692 | 0.2375 | 0.2586 | 127 | 57 | |||
17:43118465 T / C | 17 | 43118465 | chr17_43118465_T_C | T | C | c.81-2686A>G | PASS | intron | 1 | 942 | 0 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0.001062 | 1 | 0 | |||
17:43118497 A / T (rs370351256) | 17 | 43118497 | rs370351256 | A | T | c.81-2718T>A | PASS | intron | 19 | 944 | 0.0053 | 0.1 | 0.0125 | 0.0278 | 0 | 0.0333 | 0.025 | 0.0125 | 0.0167 | 0.0256 | 0 | 0.02013 | 19 | 0 | |||
17:43118563 C / A (rs142437085) | 17 | 43118563 | rs142437085 | C | A | c.81-2784G>T | PASS | intron | 2 | 946 | 0.0053 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.002114 | 2 | 0 | |||
17:43118585 GA / G (rs1285288666) | 17 | 43118585 | rs1285288666 | GA | G | c.81-2807del | PASS | intron | 3 | 946 | 0 | 0 | 0.0125 | 0.0093 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0.003171 | 3 | 0 | |||
17:43118684 CT / C (rs1156656073) | 17 | 43118684 | rs1156656073 | CT | C | c.81-2906del | PASS | intron | 9 | 938 | 0.0053 | 0 | 0.0125 | 0.0093 | 0.0256 | 0 | 0.0125 | 0 | 0.0167 | 0 | 0.025 | 0.009595 | 9 | 0 | |||
17:43118702 C / T (rs80120688) | 17 | 43118702 | rs80120688 | C | T | c.81-2923G>A | PASS | intron | 89 | 886 | 0.1117 | 0.0167 | 0.05 | 0.0648 | 0.0769 | 0.1 | 0.175 | 0.05 | 0.1833 | 0.0641 | 0.125 | 0.1005 | 62 | 13 | |||
17:43119253 A / G (rs1021776990) | 17 | 43119253 | rs1021776990 | A | G | c.81-3474T>C | PASS | intron | 2 | 926 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0.002160 | 2 | 0 | |||
17:43119322 TA / T (rs879811868) | 17 | 43119322 | rs879811868 | TA | T | c.81-3544del | PASS | intron | 17 | 928 | 0.016 | 0.0167 | 0.025 | 0.0185 | 0.0513 | 0 | 0.025 | 0.0125 | 0 | 0 | 0.025 | 0.01832 | 24 | 0 | |||
17:43119322 T / TA (rs879811868) | 17 | 43119322 | rs879811868 | T | TA | c.81-3544del | PASS | intron | 8 | 928 | 0.016 | 0.0167 | 0.025 | 0.0185 | 0.0513 | 0 | 0.025 | 0.0125 | 0 | 0 | 0.025 | 0.008621 | 24 | 0 | |||
17:43119336 T / A (rs1477022309) | 17 | 43119336 | rs1477022309 | T | A | c.81-3557A>T | PASS | intron | 2 | 938 | 0.0053 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.002132 | 2 | 0 | |||
17:43119481 TA / T (rs557494753) | 17 | 43119481 | rs557494753 | TA | T | c.81-3703del | PASS | intron | 4 | 940 | 0.0106 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0.0128 | 0 | 0.004255 | 4 | 0 | |||
17:43119787 A / C (rs60246838) | 17 | 43119787 | rs60246838 | A | C | c.81-4008T>G | PASS | intron | 25 | 922 | 0.0213 | 0.1 | 0.0125 | 0 | 0 | 0.0333 | 0.0125 | 0.0125 | 0.0167 | 0.0128 | 0.1 | 0.02712 | 17 | 4 | |||
17:43120151 A / G | 17 | 43120151 | chr17_43120151_A_G | A | G | c.80+3866T>C | PASS | intron | 1 | 946 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001057 | 1 | 0 | |||
17:43120433 G / A | 17 | 43120433 | chr17_43120433_G_A | G | A | c.80+3584C>T | PASS | intron | 1 | 948 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001055 | 1 | 0 | |||
17:43120500 C / G (rs8070631) | 17 | 43120500 | rs8070631 | C | G | c.80+3517G>C | PASS | intron | 23 | 946 | 0.0266 | 0.0667 | 0.025 | 0.0093 | 0 | 0 | 0.0125 | 0.0125 | 0.0167 | 0.0513 | 0.05 | 0.02431 | 23 | 0 | |||
17:43120514 T / C (rs138565249) | 17 | 43120514 | rs138565249 | T | C | c.80+3503A>G | PASS | intron | 5 | 948 | 0.0106 | 0.0167 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.005274 | 5 | 0 | |||
17:43120624 CA / C (rs1482668276) | 17 | 43120624 | rs1482668276 | CA | C | c.80+3392del | PASS | intron | 27 | 932 | 0.0426 | 0.0167 | 0.0125 | 0.0093 | 0 | 0.0667 | 0 | 0.0125 | 0.05 | 0.0513 | 0.05 | 0.02897 | 39 | 1 | |||
17:43120624 C / CA (rs1482668276) | 17 | 43120624 | rs1482668276 | C | CA | c.80+3392del | PASS | intron | 14 | 932 | 0.0426 | 0.0167 | 0.0125 | 0.0093 | 0 | 0.0667 | 0 | 0.0125 | 0.05 | 0.0513 | 0.05 | 0.01502 | 39 | 1 | |||
17:43120991 G / A (rs553296976) | 17 | 43120991 | rs553296976 | G | A | c.80+3026C>T | PASS | intron | 1 | 944 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001059 | 1 | 0 | |||
17:43120994 C / T (rs8071302) | 17 | 43120994 | rs8071302 | C | T | c.80+3023G>A | PASS | intron | 33 | 942 | 0.0532 | 0.1 | 0.0375 | 0 | 0 | 0.0167 | 0.0375 | 0.0125 | 0.0167 | 0.0385 | 0.0625 | 0.03503 | 29 | 2 | |||
17:43121077 C / T (rs4793179) | 17 | 43121077 | rs4793179 | C | T | c.80+2940G>A | PASS | intron | 282 | 930 | 0.4149 | 0.3167 | 0.275 | 0.1759 | 0.2949 | 0.3833 | 0.2125 | 0.175 | 0.2667 | 0.3077 | 0.3375 | 0.3032 | 150 | 66 | |||
17:43121218 G / A (rs561996629) | 17 | 43121218 | rs561996629 | G | A | c.80+2799C>T | PASS | intron | 1 | 938 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0.001066 | 1 | 0 | |||
17:43121308 C / T (rs4793180) | 17 | 43121308 | rs4793180 | C | T | c.80+2709G>A | PASS | intron | 145 | 902 | 0.1702 | 0.05 | 0.025 | 0.1481 | 0.1923 | 0.2333 | 0.175 | 0.1125 | 0.2 | 0.1923 | 0.1625 | 0.1608 | 85 | 30 | |||
17:43121320 G / A (rs115315138) | 17 | 43121320 | rs115315138 | G | A | c.80+2697C>T | PASS | intron | 4 | 940 | 0 | 0 | 0 | 0.0185 | 0.0128 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.004255 | 4 | 0 | |||
17:43121490 A / C (rs4792966) | 17 | 43121490 | rs4792966 | A | C | c.80+2527T>G | PASS | intron | 264 | 904 | 0.4202 | 0.2833 | 0.1875 | 0.1481 | 0.2821 | 0.3167 | 0.25 | 0.1875 | 0.25 | 0.2821 | 0.3 | 0.2920 | 124 | 69 | |||
17:43121495 C / T | 17 | 43121495 | chr17_43121495_C_T | C | T | c.80+2522G>A | PASS | intron | 1 | 922 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001085 | 1 | 0 | |||
17:43121502 A / G (rs4792967) | 17 | 43121502 | rs4792967 | A | G | c.80+2515T>C | PASS | intron | 268 | 900 | 0.4255 | 0.2667 | 0.2 | 0.1574 | 0.2949 | 0.35 | 0.2625 | 0.1875 | 0.25 | 0.2949 | 0.2625 | 0.2978 | 133 | 66 | |||
17:43121737 G / A (rs117347927) | 17 | 43121737 | rs117347927 | G | A | c.80+2280C>T | PASS | intron | 157 | 848 | 0.1011 | 0.1833 | 0.125 | 0.1667 | 0.3077 | 0.15 | 0.1 | 0.1875 | 0.1667 | 0.2821 | 0.1375 | 0.1851 | 81 | 38 | |||
17:43122016 T / C (rs4793181) | 17 | 43122016 | rs4793181 | T | C | c.80+2001A>G | PASS | intron | 188 | 820 | 0.2926 | 0.15 | 0.125 | 0.1204 | 0.2436 | 0.2333 | 0.1375 | 0.075 | 0.2167 | 0.2051 | 0.275 | 0.2293 | 76 | 53 | |||
17:43122018 C / T (rs62065821) | 17 | 43122018 | rs62065821 | C | T | c.80+1999G>A | PASS | intron | 8 | 904 | 0 | 0.0667 | 0.025 | 0 | 0 | 0.0333 | 0 | 0 | 0 | 0 | 0 | 0.008850 | 4 | 0 | |||
17:43122041 CAGAG / C (rs142007580) | 17 | 43122041 | rs142007580 | CAGAG | C | c.80+1972_80+1975del | PASS | intron | 8 | 924 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0128 | 0.05 | 0.008658 | 6 | 0 | |||
17:43122061 A / * (rs60436856) | 17 | 43122061 | rs60436856 | A | * | c.80+1956T>G | PASS | intron | 286 | 670 | 0.3989 | 0.3333 | 0.3125 | 0.287 | 0.3718 | 0.2167 | 0.2375 | 0.2125 | 0.2833 | 0.2564 | 0.25 | 0.4269 | 65 | 111 | |||
17:43122061 A / C (rs60436856) | 17 | 43122061 | rs60436856 | A | C | c.80+1956T>G | PASS | intron | 3 | 670 | 0.3989 | 0.3333 | 0.3125 | 0.287 | 0.3718 | 0.2167 | 0.2375 | 0.2125 | 0.2833 | 0.2564 | 0.25 | 0.004478 | 65 | 111 | |||
17:43122164 T / C (rs11650033) | 17 | 43122164 | rs11650033 | T | C | c.80+1853A>G | PASS | intron | 22 | 928 | 0.0426 | 0.0667 | 0.0375 | 0.0093 | 0 | 0 | 0.0125 | 0.0125 | 0.0167 | 0.0128 | 0.025 | 0.02371 | 20 | 1 | |||
17:43122207 C / T (rs184774161) | 17 | 43122207 | rs184774161 | C | T | c.80+1810G>A | PASS | intron | 12 | 934 | 0.0106 | 0.05 | 0 | 0.0093 | 0 | 0.0167 | 0.025 | 0 | 0.0167 | 0.0256 | 0 | 0.01285 | 10 | 1 | |||
17:43122245 C / T (rs62065823) | 17 | 43122245 | rs62065823 | C | T | c.80+1772G>A | PASS | intron | 11 | 934 | 0.0266 | 0.05 | 0 | 0 | 0 | 0.0167 | 0.0125 | 0 | 0 | 0 | 0.0125 | 0.01178 | 7 | 2 | |||
17:43122596 G / A | 17 | 43122596 | chr17_43122596_G_A | G | A | c.80+1421C>T | PASS | intron | 1 | 944 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001059 | 1 | 0 | |||
17:43122606 C / G (rs12602268) | 17 | 43122606 | rs12602268 | C | G | c.80+1411G>C | PASS | intron | 3 | 942 | 0 | 0 | 0 | 0 | 0.0128 | 0 | 0 | 0 | 0 | 0.0256 | 0 | 0.003185 | 3 | 0 | |||
17:43122794 A / G (rs55838522) | 17 | 43122794 | rs55838522 | A | G | c.80+1223T>C | PASS | intron | 40 | 936 | 0.0638 | 0.0833 | 0.0625 | 0.0093 | 0 | 0.0667 | 0.025 | 0.0125 | 0.0167 | 0.0385 | 0.075 | 0.04274 | 34 | 3 | |||
17:43122874 TG / T | 17 | 43122874 | chr17_43122874_TG_T | TG | T | c.80+1142del | PASS | intron | 1 | 946 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0.001057 | 1 | 0 | |||
17:43122960 C / T (rs1288599270) | 17 | 43122960 | rs1288599270 | C | T | c.80+1057G>A | PASS | intron | 1 | 934 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001071 | 1 | 0 | |||
17:43122968 C / T (rs181215828) | 17 | 43122968 | rs181215828 | C | T | c.80+1049G>A | PASS | intron | 2 | 926 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.002160 | 2 | 0 | |||
17:43123128 GAATT / G (rs150009708) | 17 | 43123128 | rs150009708 | GAATT | G | c.80+885_80+888del | PASS | intron | 84 | 926 | 0.1011 | 0.0167 | 0.0375 | 0.0833 | 0.0897 | 0.15 | 0.125 | 0.075 | 0.1167 | 0.0513 | 0.1125 | 0.09071 | 58 | 13 | |||
17:43123348 C / T (rs930860126) | 17 | 43123348 | rs930860126 | C | T | c.80+669G>A | PASS | intron | 2 | 938 | 0 | 0.0167 | 0 | 0 | 0 | 0.0167 | 0 | 0 | 0 | 0 | 0 | 0.002132 | 2 | 0 | |||
17:43123455 AC / A (rs138922087) | 17 | 43123455 | rs138922087 | AC | A | c.80+561del | PASS | intron | 41 | 948 | 0.0585 | 0.1167 | 0.075 | 0 | 0 | 0.05 | 0.05 | 0.0125 | 0.0167 | 0.0513 | 0.05 | 0.04325 | 37 | 2 | |||
17:43123625 C / T (rs59246405) | 17 | 43123625 | rs59246405 | C | T | c.80+392G>A | PASS | intron | 40 | 948 | 0.0479 | 0.1333 | 0.075 | 0 | 0 | 0.0667 | 0 | 0.0125 | 0.0167 | 0.0385 | 0.1 | 0.04219 | 34 | 3 | |||
17:43123719 CGCCT / C | 17 | 43123719 | chr17_43123719_CGCCT_C | CGCCT | C | c.80+294_80+297del | PASS | intron | 1 | 940 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001064 | 1 | 0 | |||
17:43123945 T / C (rs62065826) | 17 | 43123945 | rs62065826 | T | C | c.80+72A>G | PASS | intron | 12 | 926 | 0.0106 | 0.0333 | 0.0125 | 0 | 0 | 0.0333 | 0.025 | 0 | 0 | 0 | 0.0375 | 0.01296 | 10 | 1 | |||
17:43124078 G / A (rs766771585) | 17 | 43124078 | rs766771585 | G | A | p.Arg7Cys | p.Arg7Cys | c.19C>T | PASS | missense | 1 | 938 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.001066 | 1 | 0 | |
17:43124499 GA / G (rs11290490) | 17 | 43124499 | rs11290490 | GA | G | c.-19-385del | PASS | intron | 209 | 928 | 0.2979 | 0.2333 | 0.1375 | 0.1296 | 0.2564 | 0.2833 | 0.1875 | 0.125 | 0.2167 | 0.2051 | 0.2875 | 0.2252 | 109 | 52 | |||
17:43124499 G / GA (rs11290490) | 17 | 43124499 | rs11290490 | G | GA | c.-19-385del | PASS | intron | 5 | 928 | 0.2979 | 0.2333 | 0.1375 | 0.1296 | 0.2564 | 0.2833 | 0.1875 | 0.125 | 0.2167 | 0.2051 | 0.2875 | 0.005388 | 109 | 52 | |||
17:43124573 G / GA (rs1233673706) | 17 | 43124573 | rs1233673706 | G | GA | c.-19-459dup | PASS | intron | 3 | 944 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.003178 | 3 | 0 | |||
17:43124649 C / T (rs117899691) | 17 | 43124649 | rs117899691 | C | T | c.-19-534G>A | PASS | intron | 68 | 942 | 0.1649 | 0.1333 | 0.0375 | 0.037 | 0.0513 | 0.05 | 0 | 0.05 | 0.05 | 0.0513 | 0.05 | 0.07219 | 46 | 11 | |||
17:43124872 CT / C (rs1491158297) | 17 | 43124872 | rs1491158297 | CT | C | c.-20+398del | PASS | intron | 39 | 914 | 0.0585 | 0.0667 | 0.05 | 0.0278 | 0.0513 | 0 | 0 | 0.0125 | 0.0333 | 0.0513 | 0.075 | 0.04267 | 68 | 5 | |||
17:43124872 C / CT (rs1491158297) | 17 | 43124872 | rs1491158297 | C | CT | c.-20+398del | PASS | intron | 33 | 914 | 0.0585 | 0.0667 | 0.05 | 0.0278 | 0.0513 | 0 | 0 | 0.0125 | 0.0333 | 0.0513 | 0.075 | 0.03610 | 68 | 5 | |||
17:43124872 CTT / C (rs1491158297) | 17 | 43124872 | rs1491158297 | CTT | C | c.-20+398del | PASS | intron | 6 | 914 | 0.0585 | 0.0667 | 0.05 | 0.0278 | 0.0513 | 0 | 0 | 0.0125 | 0.0333 | 0.0513 | 0.075 | 0.006565 | 68 | 5 | |||
17:43125214 T / C (rs188045155) | 17 | 43125214 | rs188045155 | T | C | c.-20+57A>G | PASS | intron | 20 | 942 | 0.0426 | 0 | 0.05 | 0.037 | 0.0128 | 0.0333 | 0.0125 | 0 | 0 | 0 | 0 | 0.02123 | 16 | 2 | |||
17:43125456 A / G (rs577068764) | 17 | 43125456 | rs577068764 | A | G | c.-205T>C | PASS | 5' UTR | 2 | 946 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0.0167 | 0 | 0 | 0.002114 | 2 | 0 | |||
17:43125603 G / GA (rs1395464475) | 17 | 43125603 | rs1395464475 | G | GA | PASS | upstream gene | 4 | 940 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0.0125 | 0 | 0.0167 | 0 | 0.0125 | 0.004255 | 4 | 0 | ||||
17:43125629 C / T (rs1411079948) | 17 | 43125629 | rs1411079948 | C | T | PASS | upstream gene | 2 | 950 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.025 | 0.002105 | 2 | 0 | ||||
17:43125662 G / C (rs12453616) | 17 | 43125662 | rs12453616 | G | C | PASS | upstream gene | 13 | 946 | 0.0106 | 0.0667 | 0.025 | 0 | 0 | 0.0167 | 0.0125 | 0 | 0 | 0 | 0.0375 | 0.01374 | 11 | 1 | ||||
17:43125915 G / A (rs186944474) | 17 | 43125915 | rs186944474 | G | A | PASS | upstream gene | 2 | 944 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0333 | 0 | 0 | 0.002119 | 2 | 0 | ||||
17:43125929 C / T (rs148358499) | 17 | 43125929 | rs148358499 | C | T | PASS | upstream gene | 102 | 930 | 0.117 | 0.0833 | 0.1 | 0.1667 | 0.0897 | 0.0333 | 0.2 | 0.1 | 0.1 | 0.0769 | 0.05 | 0.1097 | 72 | 15 | ||||
17:43126377 G / A | 17 | 43126377 | chr17_43126377_G_A | G | A | PASS | upstream gene | 1 | 942 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0 | 0 | 0 | 0 | 0.001062 | 1 | 0 | ||||
17:43126431 C / G | 17 | 43126431 | chr17_43126431_C_G | C | G | PASS | upstream gene | 1 | 940 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001064 | 1 | 0 | ||||
17:43126470 G / GA (rs143473839) | 17 | 43126470 | rs143473839 | G | GA | PASS | upstream gene | 8 | 940 | 0.0053 | 0.05 | 0.0125 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0375 | 0.008511 | 8 | 0 | ||||
17:43126634 A / G (rs372638484) | 17 | 43126634 | rs372638484 | A | G | PASS | upstream gene | 1 | 942 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001062 | 1 | 0 | ||||
17:43126821 C / T (rs77452335) | 17 | 43126821 | rs77452335 | C | T | PASS | upstream gene | 7 | 944 | 0.016 | 0 | 0 | 0 | 0 | 0 | 0.0125 | 0.0125 | 0 | 0.0256 | 0 | 0.007415 | 7 | 0 | ||||
17:43126857 C / CT (rs202044633) | 17 | 43126857 | rs202044633 | C | CT | PASS | upstream gene | 102 | 942 | 0.1436 | 0.0333 | 0.05 | 0.0833 | 0.0897 | 0.1167 | 0.15 | 0.075 | 0.1667 | 0.1026 | 0.125 | 0.1083 | 80 | 11 | ||||
17:43126910 G / T (rs181766081) | 17 | 43126910 | rs181766081 | G | T | PASS | upstream gene | 6 | 942 | 0 | 0 | 0.025 | 0.0093 | 0.0128 | 0.0333 | 0 | 0 | 0 | 0 | 0 | 0.006369 | 6 | 0 | ||||
17:43127395 A / G (rs28497626) | 17 | 43127395 | rs28497626 | A | G | PASS | upstream gene | 103 | 916 | 0.117 | 0.0167 | 0.0375 | 0.0833 | 0.1154 | 0.1667 | 0.1625 | 0.0625 | 0.15 | 0.1282 | 0.15 | 0.1124 | 81 | 11 | ||||
17:43127406 T / TTTTC (rs112386425) | 17 | 43127406 | rs112386425 | T | TTTTC | PASS | upstream gene | 482 | 924 | 0.5638 | 0.45 | 0.45 | 0.5185 | 0.5641 | 0.5333 | 0.5 | 0.3875 | 0.4333 | 0.4359 | 0.625 | 0.5216 | 114 | 184 | ||||
17:43127438 TCA / T (rs1243969752) | 17 | 43127438 | rs1243969752 | TCA | T | PASS | upstream gene | 2 | 940 | 0 | 0 | 0 | 0 | 0 | 0 | 0.025 | 0 | 0 | 0 | 0 | 0.002128 | 0 | 1 | ||||
17:43127708 G / A (rs12950988) | 17 | 43127708 | rs12950988 | G | A | PASS | upstream gene | 256 | 936 | 0.2181 | 0.1667 | 0.2625 | 0.3704 | 0.2821 | 0.2667 | 0.275 | 0.2625 | 0.1667 | 0.3333 | 0.3375 | 0.2735 | 137 | 59 | ||||
17:43127715 A / C (rs4793173) | 17 | 43127715 | rs4793173 | A | C | PASS | upstream gene | 292 | 938 | 0.4096 | 0.3833 | 0.25 | 0.2222 | 0.3205 | 0.4167 | 0.2625 | 0.2 | 0.25 | 0.2692 | 0.3125 | 0.3113 | 150 | 71 | ||||
17:43128042 ACT / A (rs141159079) | 17 | 43128042 | rs141159079 | ACT | A | PASS | upstream gene | 80 | 940 | 0.1596 | 0.25 | 0.1 | 0.037 | 0.0128 | 0.0667 | 0.0125 | 0.0375 | 0.05 | 0.0385 | 0.1 | 0.08511 | 57 | 12 | ||||
17:43128170 C / T (rs180705507) | 17 | 43128170 | rs180705507 | C | T | PASS | upstream gene | 10 | 942 | 0 | 0 | 0 | 0.0093 | 0 | 0.0167 | 0 | 0.075 | 0 | 0.0256 | 0 | 0.01062 | 10 | 0 | ||||
17:43128383 G / C | 17 | 43128383 | chr17_43128383_G_C | G | C | PASS | upstream gene | 1 | 948 | 0.0053 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001055 | 1 | 0 | ||||
17:43128569 G / C (rs4315379) | 17 | 43128569 | rs4315379 | G | C | PASS | upstream gene | 14 | 946 | 0.0106 | 0.05 | 0.025 | 0 | 0 | 0.05 | 0.0125 | 0 | 0 | 0 | 0.0375 | 0.01480 | 12 | 1 | ||||
17:43129759 TATC / T (rs78139659) | 17 | 43129759 | rs78139659 | TATC | T | PASS | upstream gene | 73 | 938 | 0.1383 | 0.2167 | 0.075 | 0.0278 | 0.0513 | 0.0667 | 0.025 | 0.0375 | 0.05 | 0.0256 | 0.0875 | 0.07783 | 45 | 14 | ||||
17:43129907 A / G (rs1254953234) | 17 | 43129907 | rs1254953234 | A | G | PASS | upstream gene | 1 | 950 | 0 | 0 | 0 | 0.0093 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.001053 | 1 | 0 | ||||
17:43130063 C / CA (rs111575713) | 17 | 43130063 | rs111575713 | C | CA | PASS | upstream gene | 78 | 918 | 0.1755 | 0.1333 | 0.1 | 0.0278 | 0.0256 | 0.0833 | 0.0125 | 0.075 | 0.0667 | 0.0513 | 0.05 | 0.08497 | 47 | 16 | ||||
17:43130063 C / CAA (rs111575713) | 17 | 43130063 | rs111575713 | C | CAA | PASS | upstream gene | 1 | 918 | 0.1755 | 0.1333 | 0.1 | 0.0278 | 0.0256 | 0.0833 | 0.0125 | 0.075 | 0.0667 | 0.0513 | 0.05 | 0.001089 | 47 | 16 | ||||
17:43130385 GC / G (rs144187077) | 17 | 43130385 | rs144187077 | GC | G | PASS | upstream gene | 17 | 920 | 0.0319 | 0.0333 | 0.025 | 0 | 0 | 0 | 0.0125 | 0 | 0.0167 | 0.0128 | 0.05 | 0.01848 | 15 | 1 | ||||
17:43130406 C / T | 17 | 43130406 | chr17_43130406_C_T | C | T | PASS | upstream gene | 2 | 902 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.025 | 0.002217 | 2 | 0 |