Site CDNA-Pos Description Allele1 AD-freq ED-freq Total-freq Allele2 AD-freq ED-freq Total-freq Protein-Pos Codon1 Codon2 AminoAcid1 AminoAcid2 000063 00000 ----------- + 0.00 0.00 0.00 - 0.95 0.98 0.97 0000 --- --- --- --- 000675 00000 ----------- G 0.81 1.00 0.90 T 0.19 0.00 0.10 0000 --- --- --- --- 001112 00000 ----------- A 0.83 0.54 0.69 G 0.17 0.46 0.31 0000 --- --- --- --- 001433 00000 ----------- C 0.91 0.64 0.77 T 0.09 0.36 0.23 0000 --- --- --- --- 001684 00000 ----------- C 0.67 0.83 0.75 T 0.33 0.17 0.25 0000 --- --- --- --- 001800 00000 ----------- C 0.93 1.00 0.97 T 0.07 0.00 0.03 0000 --- --- --- --- 001962 00014 5' UTR C 0.95 1.00 0.98 G 0.05 0.00 0.02 0000 --- --- --- --- 002111 00163 PHASE SHIFT + 0.00 0.00 0.00 - 0.19 0.39 0.30 0012 C-- CTG --- --- 002235 00000 ----------- C 0.04 0.00 0.02 G 0.96 1.00 0.98 0000 --- --- --- --- 002289 00000 ----------- A 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 002404 00000 ----------- C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 002730 00000 ----------- A 0.07 0.00 0.03 G 0.93 1.00 0.97 0000 --- --- --- --- 002996 00000 ----------- A 0.02 0.00 0.01 G 0.98 1.00 0.99 0000 --- --- --- --- 003199 00000 ----------- A 0.79 1.00 0.89 G 0.21 0.00 0.11 0000 --- --- --- --- 003376 00000 ----------- A 0.04 0.17 0.11 T 0.96 0.83 0.89 0000 --- --- --- --- 003553 00257 SYNON C 0.03 0.00 0.01 G 0.97 1.00 0.99 0043 GCC GCG ALA ALA 003753 00000 ----------- G 0.90 0.54 0.71 T 0.10 0.46 0.29 0000 --- --- --- --- 003957 00000 ----------- A 0.91 1.00 0.95 C 0.09 0.00 0.05 0000 --- --- --- --- 004160 00000 ----------- A 0.92 1.00 0.96 G 0.08 0.00 0.04 0000 --- --- --- --- 004441 00000 ----------- A 0.00 0.02 0.01 G 1.00 0.98 0.99 0000 --- --- --- --- 004795 00000 ----------- A 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 004994 00421 NON-SYN C 0.89 0.63 0.76 T 0.11 0.37 0.24 0098 ACC ATC THR ILE 005255 00000 ----------- A 0.23 0.19 0.21 C 0.77 0.81 0.79 0000 --- --- --- --- 005977 00000 ----------- A 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 005992 00000 ----------- A 0.02 0.00 0.01 C 0.98 1.00 0.99 0000 --- --- --- --- 006023 00000 ----------- A 0.00 0.04 0.02 T 1.00 0.96 0.98 0000 --- --- --- --- 006035 00000 ----------- C 0.96 1.00 0.98 G 0.04 0.00 0.02 0000 --- --- --- --- 006138 00000 ----------- C 0.94 1.00 0.97 T 0.06 0.00 0.03 0000 --- --- --- --- 006226 00000 ----------- A 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 006355 00000 ----------- C 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 006467 00000 ----------- C 0.91 0.54 0.73 T 0.09 0.46 0.27 0000 --- --- --- --- 006514 00000 ----------- A 0.02 0.00 0.01 G 0.98 1.00 0.99 0000 --- --- --- --- 006519 00000 ----------- A 0.02 0.00 0.01 C 0.98 1.00 0.99 0000 --- --- --- --- 006551 00000 ----------- A 0.11 0.00 0.06 G 0.89 1.00 0.94 0000 --- --- --- --- 006579 00000 ----------- A 0.02 0.00 0.01 C 0.98 1.00 0.99 0000 --- --- --- --- 006703 00000 ----------- C 0.96 1.00 0.98 T 0.04 0.00 0.02 0000 --- --- --- --- 006704 00000 ----------- A 0.07 0.00 0.03 G 0.93 1.00 0.97 0000 --- --- --- --- 006896 00000 ----------- G 0.00 0.07 0.03 T 1.00 0.93 0.97 0000 --- --- --- --- 007387 00000 ----------- A 0.30 0.04 0.17 G 0.70 0.96 0.83 0000 --- --- --- --- 007518 00000 ----------- A 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 007651 00000 ----------- A 0.02 0.00 0.01 G 0.98 1.00 0.99 0000 --- --- --- --- 007761 00000 ----------- A 0.17 0.00 0.09 G 0.83 1.00 0.91 0000 --- --- --- --- 007960 00561 NON-SYN C 0.82 1.00 0.91 T 0.18 0.00 0.09 0145 CCG TCG PRO SER 008293 00000 ----------- C 0.29 0.05 0.18 T 0.71 0.95 0.82 0000 --- --- --- --- 008534 00000 ----------- C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 008691 00000 ----------- C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 008759 00000 ----------- C 0.89 1.00 0.95 T 0.11 0.00 0.05 0000 --- --- --- --- 009283 00000 ----------- C 0.11 0.46 0.28 T 0.89 0.54 0.72 0000 --- --- --- --- 009333 00000 ----------- A 0.85 0.50 0.67 G 0.15 0.50 0.33 0000 --- --- --- --- 009566 00000 ----------- A 0.96 1.00 0.98 G 0.04 0.00 0.02 0000 --- --- --- --- 010294 00000 ----------- C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 010968 00000 ----------- A 0.96 0.98 0.97 G 0.04 0.02 0.03 0000 --- --- --- --- 011518 00000 ----------- A 0.02 0.00 0.01 G 0.98 1.00 0.99 0000 --- --- --- --- 012030 00000 ----------- A 0.81 1.00 0.90 T 0.19 0.00 0.10 0000 --- --- --- --- 012182 00000 ----------- A 1.00 0.98 0.99 G 0.00 0.02 0.01 0000 --- --- --- --- 012482 00000 ----------- C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 012489 00000 ----------- A 1.00 0.98 0.99 C 0.00 0.02 0.01 0000 --- --- --- --- 012947 00000 ----------- C 0.04 0.00 0.02 T 0.96 1.00 0.98 0000 --- --- --- --- 013162 00000 ----------- C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 013163 00000 ----------- C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 013322 00000 ----------- + 0.00 0.00 0.00 - 0.25 0.04 0.15 0000 --- --- --- --- 013545 01351 NON-SYN C 0.02 0.00 0.01 T 0.98 1.00 0.99 0408 ACA ATA THR ILE 013734 00000 ----------- A 0.04 0.00 0.02 C 0.96 1.00 0.98 0000 --- --- --- --- 013903 00000 ----------- A 0.88 1.00 0.94 G 0.12 0.00 0.06 0000 --- --- --- --- 014170 00000 ----------- A 0.17 0.00 0.08 G 0.83 1.00 0.92 0000 --- --- --- --- 014176 00000 ----------- G 0.19 0.00 0.09 T 0.81 1.00 0.91 0000 --- --- --- --- 014336 00000 ----------- A 1.00 0.96 0.98 G 0.00 0.04 0.02 0000 --- --- --- --- 014515 00000 ----------- C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 014625 00000 ----------- A 0.02 0.00 0.01 G 0.98 1.00 0.99 0000 --- --- --- --- 014731 00000 ----------- G 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 015272 00000 ----------- A 0.04 0.20 0.12 T 0.96 0.80 0.88 0000 --- --- --- --- 015273 00000 ----------- + 0.00 0.00 0.00 - 0.04 0.20 0.12 0000 --- --- --- --- 015590 00000 ----------- A 1.00 0.98 0.99 G 0.00 0.02 0.01 0000 --- --- --- --- 015660 00000 ----------- C 0.04 0.00 0.02 T 0.96 1.00 0.98 0000 --- --- --- --- 015699 00000 ----------- A 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 016184 00000 ----------- C 0.96 1.00 0.98 T 0.04 0.00 0.02 0000 --- --- --- --- 016225 00000 ----------- C 0.02 0.00 0.01 T 0.98 1.00 0.99 0000 --- --- --- --- 016796 00000 ----------- C 0.06 0.00 0.02 G 0.94 1.00 0.98 0000 --- --- --- --- 017049 00000 ----------- C 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 017100 00000 ----------- A 0.87 1.00 0.93 G 0.13 0.00 0.07 0000 --- --- --- --- 017187 00000 ----------- C 0.96 1.00 0.98 T 0.04 0.00 0.02 0000 --- --- --- --- 017370 00000 ----------- A 0.00 0.02 0.01 G 1.00 0.98 0.99 0000 --- --- --- --- 017372 00000 ----------- C 0.02 0.00 0.01 T 0.98 1.00 0.99 0000 --- --- --- --- 017533 01789 NON-SYN C 0.96 1.00 0.98 T 0.04 0.00 0.02 0554 CCG CTG PRO LEU 017860 00000 ----------- A 0.24 0.04 0.14 C 0.76 0.96 0.86 0000 --- --- --- --- 017986 01981 NON-SYN C 0.91 0.55 0.73 T 0.09 0.45 0.27 0618 GCT GTT ALA VAL 018343 00000 ----------- C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 018435 00000 ----------- C 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 018661 00000 ----------- A 0.19 0.00 0.10 T 0.81 1.00 0.90 0000 --- --- --- --- 018677 00000 ----------- C 0.85 0.52 0.70 T 0.15 0.48 0.30 0000 --- --- --- --- 019184 02316 NON-SYN A 0.00 0.04 0.02 G 1.00 0.96 0.98 0730 ATC GTC ILE VAL 019218 02350 NON-SYN A 0.17 0.00 0.09 C 0.83 1.00 0.91 0741 AAC ACC ASN THR 019243 00000 ----------- A 0.05 0.00 0.02 G 0.95 1.00 0.98 0000 --- --- --- --- 019745 00000 ----------- + 0.00 0.00 0.00 - 0.05 0.00 0.03 0000 --- --- --- --- 020799 00000 ----------- C 0.02 0.00 0.01 T 0.98 1.00 0.99 0000 --- --- --- --- 020804 00000 ----------- C 0.00 0.02 0.01 T 1.00 0.98 0.99 0000 --- --- --- --- 021613 00000 ----------- A 0.04 0.00 0.02 G 0.96 1.00 0.98 0000 --- --- --- --- 021689 00000 ----------- A 0.11 0.21 0.16 G 0.89 0.79 0.84 0000 --- --- --- --- 022594 00000 ----------- C 0.57 0.95 0.76 G 0.43 0.05 0.24 0000 --- --- --- --- 022693 00000 ----------- C 0.17 0.00 0.09 T 0.83 1.00 0.91 0000 --- --- --- --- 022763 00000 ----------- A 0.02 0.00 0.01 T 0.98 1.00 0.99 0000 --- --- --- --- 023011 02758 NON-SYN C 0.98 1.00 0.99 T 0.02 0.00 0.01 0877 CCC CTC PRO LEU 023087 02834 SYNON C 1.00 0.95 0.98 T 0.00 0.05 0.02 0902 AAC AAT ASN ASN 023352 00000 ----------- C 0.02 0.00 0.01 T 0.98 1.00 0.99 0000 --- --- --- --- 023533 00000 ----------- C 0.46 0.04 0.26 T 0.54 0.96 0.74 0000 --- --- --- --- 023571 00000 ----------- A 0.77 0.72 0.74 C 0.23 0.28 0.26 0000 --- --- --- --- 024103 00000 ----------- C 0.11 0.00 0.05 T 0.89 1.00 0.95 0000 --- --- --- --- 024283 00000 ----------- C 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 024469 00000 ----------- G 0.04 0.00 0.02 T 0.96 1.00 0.98 0000 --- --- --- --- 024542 00000 ----------- A 1.00 0.91 0.96 C 0.00 0.09 0.04 0000 --- --- --- --- 024581 00000 ----------- C 0.90 1.00 0.95 T 0.10 0.00 0.05 0000 --- --- --- --- 024900 00000 ----------- A 0.17 0.50 0.33 C 0.83 0.50 0.67 0000 --- --- --- --- 025245 00000 ----------- C 0.93 1.00 0.97 T 0.07 0.00 0.03 0000 --- --- --- --- 025246 00000 ----------- A 0.96 1.00 0.98 G 0.04 0.00 0.02 0000 --- --- --- --- 025288 00000 ----------- C 0.96 1.00 0.98 T 0.04 0.00 0.02 0000 --- --- --- --- 025456 00000 ----------- C 0.96 1.00 0.98 T 0.04 0.00 0.02 0000 --- --- --- --- 025534 00000 ----------- A 0.02 0.00 0.01 G 0.98 1.00 0.99 0000 --- --- --- --- 025594 00000 ----------- A 0.02 0.00 0.01 G 0.98 1.00 0.99 0000 --- --- --- --- 025856 00000 ----------- C 0.00 0.02 0.01 G 1.00 0.98 0.99 0000 --- --- --- --- 025874 00000 ----------- A 0.00 0.02 0.01 G 1.00 0.98 0.99 0000 --- --- --- --- 027156 00000 ----------- A 0.02 0.20 0.11 G 0.98 0.80 0.89 0000 --- --- --- --- 027395 00000 ----------- C 0.31 0.09 0.20 T 0.69 0.91 0.80 0000 --- --- --- --- 027598 00000 ----------- A 0.02 0.00 0.01 G 0.98 1.00 0.99 0000 --- --- --- --- 027610 00000 ----------- A 0.02 0.00 0.01 G 0.98 1.00 0.99 0000 --- --- --- --- 027730 00000 ----------- G 0.13 0.00 0.07 T 0.87 1.00 0.93 0000 --- --- --- --- 027745 00000 ----------- A 0.96 1.00 0.98 C 0.04 0.00 0.02 0000 --- --- --- --- 027904 00000 ----------- A 0.08 0.00 0.04 G 0.92 1.00 0.96 0000 --- --- --- --- 028186 00000 ----------- A 0.02 0.00 0.01 G 0.98 1.00 0.99 0000 --- --- --- --- 028188 00000 ----------- C 0.00 0.02 0.01 T 1.00 0.98 0.99 0000 --- --- --- --- 028274 00000 ----------- C 0.00 0.02 0.01 T 1.00 0.98 0.99 0000 --- --- --- --- 028362 00000 ----------- C 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 028453 00000 ----------- C 0.00 0.02 0.01 T 1.00 0.98 0.99 0000 --- --- --- --- 028524 00000 ----------- A 0.04 0.00 0.02 G 0.96 1.00 0.98 0000 --- --- --- --- 028536 00000 ----------- C 0.85 0.73 0.79 T 0.15 0.27 0.21 0000 --- --- --- --- 028869 00000 ----------- G 0.85 0.70 0.78 T 0.15 0.30 0.22 0000 --- --- --- --- 029130 00000 ----------- C 0.02 0.00 0.01 T 0.98 1.00 0.99 0000 --- --- --- --- 029131 00000 ----------- A 0.02 0.00 0.01 G 0.98 1.00 0.99 0000 --- --- --- --- 029184 00000 ----------- C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 029236 00000 ----------- A 0.89 0.54 0.72 G 0.11 0.46 0.28 0000 --- --- --- --- 029242 00000 ----------- A 0.80 0.93 0.87 G 0.20 0.07 0.13 0000 --- --- --- --- 029292 00000 ----------- C 0.00 0.02 0.01 G 1.00 0.98 0.99 0000 --- --- --- --- 029308 00000 ----------- C 0.00 0.04 0.02 T 1.00 0.96 0.98 0000 --- --- --- --- 029318 00000 ----------- C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 029319 00000 ----------- A 0.02 0.00 0.01 G 0.98 1.00 0.99 0000 --- --- --- --- 029516 03384 NON-SYN A 0.02 0.00 0.01 G 0.98 1.00 0.99 1086 AGC GGC SER GLY 029820 00000 ----------- A 0.93 1.00 0.96 T 0.07 0.00 0.04 0000 --- --- --- --- 029910 00000 ----------- G 1.00 0.95 0.98 T 0.00 0.05 0.02 0000 --- --- --- --- 030006 00000 ----------- A 0.11 0.00 0.05 G 0.89 1.00 0.95 0000 --- --- --- --- 030490 03465 NON-SYN C 0.00 0.02 0.01 G 1.00 0.98 0.99 1113 CAC GAC HIS ASP 030536 03511 NON-SYN A 0.02 0.00 0.01 G 0.98 1.00 0.99 1128 CAT CGT HIS ARG 030761 00000 ----------- A 0.08 0.00 0.04 G 0.92 1.00 0.96 0000 --- --- --- --- 031117 00000 ----------- A 0.93 0.91 0.92 C 0.07 0.09 0.08 0000 --- --- --- --- 031359 00000 ----------- C 0.75 0.78 0.77 T 0.25 0.22 0.23 0000 --- --- --- --- 031661 00000 ----------- G 0.08 0.00 0.04 T 0.92 1.00 0.96 0000 --- --- --- --- 031665 00000 ----------- A 0.04 0.20 0.12 T 0.96 0.80 0.88 0000 --- --- --- --- 031796 00000 ----------- A 0.08 0.00 0.04 G 0.92 1.00 0.96 0000 --- --- --- --- 031873 00000 ----------- A 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 032063 00000 ----------- A 0.02 0.00 0.01 G 0.98 1.00 0.99 0000 --- --- --- --- 032921 00000 ----------- C 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 033055 00000 ----------- A 0.02 0.00 0.01 C 0.98 1.00 0.99 0000 --- --- --- --- 033338 00000 ----------- A 0.00 0.02 0.01 G 1.00 0.98 0.99 0000 --- --- --- --- 033528 04493 SYNON C 0.88 1.00 0.94 T 0.12 0.00 0.06 1455 TTC TTT PHE PHE 034904 05869 NON-SYN A 1.00 0.98 0.99 G 0.00 0.02 0.01 1914 AAT AGT ASN SER 036058 07023 NON-SYN C 0.02 0.00 0.01 G 0.98 1.00 0.99 2299 CAT GAT HIS ASP 036099 07064 SYNON C 0.83 0.50 0.67 T 0.17 0.50 0.33 2312 GAC GAT ASP ASP 036530 07495 NON-SYN A 0.09 0.00 0.04 C 0.91 1.00 0.96 2456 GAT GCT ASP ALA 036708 07673 SYNON C 0.83 0.50 0.67 T 0.17 0.50 0.33 2515 ACC ACT THR THR 037311 08276 SYNON C 0.96 1.00 0.98 T 0.04 0.00 0.02 2716 ATC ATT ILE ILE 037379 08344 NON-SYN C 0.85 0.77 0.82 T 0.15 0.23 0.18 2739 CCA CTA PRO LEU 038167 09132 SYNON C 0.90 1.00 0.95 T 0.10 0.00 0.05 3002 CTA TTA LEU LEU 038707 09672 NON-SYN A 0.00 0.02 0.01 C 1.00 0.98 0.99 3182 AAC CAC ASN HIS 038998 09963 NON-SYN A 0.98 1.00 0.99 G 0.02 0.00 0.01 3279 AGC GGC SER GLY 039043 10008 NON-SYN C 0.08 0.00 0.04 T 0.92 1.00 0.96 3294 CCA TCA PRO SER 039294 10259 SYNON A 0.00 0.02 0.01 G 1.00 0.98 0.99 3377 CTA CTG LEU LEU 039835 10800 NON-SYN C 1.00 0.98 0.99 T 0.00 0.02 0.01 3558 CGC TGC ARG CYS 039864 10829 SYNON A 0.13 0.00 0.07 G 0.87 1.00 0.93 3567 ACA ACG THR THR 039900 10865 SYNON C 0.96 1.00 0.98 T 0.04 0.00 0.02 3579 ACC ACT THR THR 040076 11041 NON-SYN A 0.06 0.15 0.10 G 0.94 0.85 0.90 3638 CAG CGG GLN ARG 040564 11529 NON-SYN A 0.00 0.02 0.01 T 1.00 0.98 0.99 3801 ACT TCT THR SER 041101 00000 ----------- C 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 041375 11936 SYNON C 0.92 1.00 0.96 T 0.08 0.00 0.04 3936 ATC ATT ILE ILE 041520 00000 ----------- C 0.06 0.17 0.12 G 0.94 0.83 0.88 0000 --- --- --- --- 041572 00000 ----------- C 0.96 1.00 0.98 T 0.04 0.00 0.02 0000 --- --- --- --- 041726 12179 SYNON C 0.98 1.00 0.99 T 0.02 0.00 0.01 4017 GAC GAT ASP ASP 042343 00000 ----------- C 0.75 0.78 0.77 T 0.25 0.22 0.23 0000 --- --- --- --- 042651 00000 ----------- C 0.10 0.00 0.05 T 0.90 1.00 0.95 0000 --- --- --- --- 042991 12510 NON-SYN A 0.00 0.02 0.01 G 1.00 0.98 0.99 4128 ATG GTG MET VAL 043150 12669 NON-SYN A 0.17 0.20 0.18 G 0.83 0.80 0.82 4181 AAA GAA LYS GLU 043393 12912 SYNON C 0.98 1.00 0.99 T 0.02 0.00 0.01 4262 CTA TTA LEU LEU 043418 12937 NON-SYN C 0.10 0.00 0.05 G 0.90 1.00 0.95 4270 ACG AGG THR ARG 043622 13141 NON-SYN A 0.85 0.76 0.81 G 0.15 0.24 0.19 4338 AAT AGT ASN SER 043790 13309 NON-SYN C 0.00 0.02 0.01 T 1.00 0.98 0.99 4394 GCT GTT ALA VAL 044050 13569 NON-SYN A 0.00 0.07 0.03 G 1.00 0.93 0.97 4481 ACC GCC THR ALA 044060 13579 NON-SYN C 0.96 1.00 0.98 T 0.04 0.00 0.02 4484 ACG ATG THR MET 044481 14000 3' UTR G 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- NOTE: AD-freq: African Descent frequency ED-freq: European Descent frequency NOTE: Diallelic insertion/deletion polymorphisms are represented as: + : allele insertion - : allele deletion The + (inserted) allele for each site is listed below: 000063: T 002111: TGGCGCTGC 013322: AGATG 015273: T 019745: A