Assay ID Gene Symbol Gene Symbol Alias Allele Nomenclature Polymorphism Amino Acid Change Phenotype NCBI SNP Reference hCV SNP Type Gene Name NCBI Gene Reference Context Sequence Location on NCBI Assembly NCBI Assembly Build Cytogenetic Band Chromosome Minor Allele Frequency Caucasian Minor Allele Frequency African American Minor Allele Frequency Japanese Minor Allele Frequency Chinese Species C__34257260_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 -/C |||| MIM:158343|PharmGKB:PA244 hCV34257260 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TATGCCTGGGAGCTGGCATTCAAGG[-/C]ACAAGGTGCTGGCCATCAGGCAGGA 16057553 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 0 0 0 0 Homo sapiens C__34257357_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 -/G |||| MIM:158343|PharmGKB:PA244 hCV34257357 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 CAAGTGGTTTCCTGGTGCTTCCCAC[-/G]GGAGGAGTTTTGGCAGCCAGACTTC 16142949 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 0 0 0 0 Homo sapiens C__34257363_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 A/G | MIM:603234 hCV34257363 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 GCACAGTCCATCACGGAGCGCAGGC[A/G]GTGGGCAATGAGCAGCACAGTGCAC 16151964 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 0 0 0 0 Homo sapiens C__34257366_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 A/C | MIM:603234 hCV34257366 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 TCAGGTCCTCGCCTCGGTCAGCACA[A/C]TTGTACTGCAGCTGGCCGGGCAGGC 16156012 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 0 0 0 0 Homo sapiens C__34257378_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 A/G | MIM:603234 hCV34257378 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 CTGTTCTCTAGGTCTGTCCAGTTGC[A/G]AACAACCCACTGCAGTGTCTGGGTC 16160914 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 0 0 0 0 Homo sapiens C__34257414_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 C/G | MIM:603234 hCV34257414 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 AGGAGGCTCAGGAAGACAGCGATGG[C/G]AGTGAGGGCGGAGGGCCCCAGGAGC 16194256 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 0 0 0 0 Homo sapiens C__34816078_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6*17,g.209C>T A/G MIM:122720|PharmGKB:PA121 rs8192722 hCV34816078 Intron cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 CAGCCAACTAGGCAGCCCCCACCCC[A/G]TGCCACCCATCTCCCTGCCTTGGGA 46047963 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 .11 0 0 Homo sapiens C__34816079_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6*1B3,g.-395G>A C/T MIM:122720|PharmGKB:PA121 hCV34816079 cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 TCTGGGGGTTCCAGGGGAGAGGAAT[C/T]CAAAGGTCTGGGTTTTATTAGGGTA 46048566 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__34816083_20 CYP2A13 CPAD|CYP2A CYP2A13*2A,g.-1429A>G|CYP2A13*2B,g.-1429A>G A/G MIM:608055 hCV34816083 cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 AGATTCAACCAGATCATACACACCT[A/G]GACTTAATCTTCCCATATATGACCA 46284788 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 .02 .15 .01 .06 Homo sapiens C__34816085_20 CYP2A13 CPAD|CYP2A CYP2A13*1J,g.523C>T C/T C82C MIM:608055 hCV34816085 Silent Mutation cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 GGCCCCGGCGGGTCGTGGTGCTGTG[C/T]GGACATGATGCCGTCAAGGAGGCTC 46286739 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__34816088_20 CYP2A13 CPAD|CYP2A CYP2A13*3,g.1970A>C A/C T177T MIM:608055 hCV34816088 Silent Mutation cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 ATCCCACCTTCTTCCTGAGCCGCAC[A/C]GTCTCCAATGTCATCAGCTCCATTG 46288186 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 .02 .05 0 Homo sapiens C__34816089_20 CYP2A13 CPAD|CYP2A CYP2A13*1K,g.1991C>A A/C S184S MIM:608055 hCV34816089 Silent Mutation cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 GCACAGTCTCCAATGTCATCAGCTC[A/C]ATTGTCTTTGGGGACCGCTTTGACT 46288207 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__34816090_20 CYP2A13 CPAD|CYP2A CYP2A13*2A,g.2211T>C|CYP2A13*2B,g.2211T>C|CYP2A13*3,g.2211T>C C/T MIM:608055 rs8192786 hCV34816090 Intron cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 CCAGACAGTGTCCCCTCAAAATCAG[C/T]CCCCGATATTGGACAACTGGACGGT 46288427 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 .04 .19 .06 .06 Homo sapiens C__34816093_20 CYP2A13 CPAD|CYP2A CYP2A13*3,g.5578A>C A/C MIM:608055 hCV34816093 Intron cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 ATCCCCTAAGTTCCTCCCTGTGCCT[A/C]CCCTGTGATTCTGACACAACCTGGT 46291794 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 .05 .05 0 Homo sapiens C__34816095_10 CYP2S1 CYP2S1*1B,g.1300G>A A/G P66P hCV34816095 Silent Mutation cytochrome P450, family 2, subfamily S, polypeptide 1 NM_030622 CCCAGCTGAGTAAGAAGTACGGACC[A/G]GTGTTCACCATCTACCTGGGACCGT 46392309 NCBI Build 36.2 Human 19q,19q13.2c,19q13.2,19q13,19q1 19 .01 0 0 0 Homo sapiens C__34816097_10 CYP2S1 CYP2S1*2,g.10347C>T C/T R380C hCV34816097 Mis-sense Mutation cytochrome P450, family 2, subfamily S, polypeptide 1 NM_030622 ACCCCGCACCCTCATGCGGACCACC[C/T]GCTTCCGAGGGTACACCCTGCCCCA 46401356 NCBI Build 36.2 Human 19q,19q13.2c,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__34816104_20 UGT2B4 UGT2B11 UGT2B4*3,c.325T>C A/G MIM:600067 hCV34816104 UDP glucuronosyltransferase 2 family, polypeptide B4 NM_021139 CACATGATTTCTTGTACTTGTGAAA[A/G]ATATGACCAAAATGTGTCTTTTGGA 70395844 NCBI Build 36.2 Human 4q,4q13.2c,4q13.2,4q13,4q1 4 0 0 0 0 Homo sapiens C__34816105_20 UGT2B4 UGT2B11 UGT2B4*3,c.1186T>C A/G MIM:600067 hCV34816105 UDP glucuronosyltransferase 2 family, polypeptide B4 NM_021139 GCAATGTTATCAGGTTGATCTGCAA[A/G]CAATGGAACGCCCACCATAGGGATT 70385639 NCBI Build 36.2 Human 4q,4q13.2c,4q13.2,4q13,4q1 4 0 0 0 0 Homo sapiens C__34816107_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*4C,g.3887T>C A/G P421L|P370L MIM:124030|PharmGKB:PA128 hCV34816107 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 CTTCACAAAGTGGCCCTGGGCATCC[A/G]GGAAGTGTTCGGGGTGGAAGCGGAA 40852850 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 0 0 0 Homo sapiens C__34816108_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*4H,g.3877G>C|CYP2D6*52,g.3877G>A C/G | MIM:124030|PharmGKB:PA128 rs28371733 hCV34816108 | cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 TGGCCCTGGGCATCCAGGAAGTGTT[C/G]GGGGTGGAAGCGGAAGGGCTTCTCC 40852860 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 0 0 0 Homo sapiens C__34816113_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*29,g.3183G>A C/T M338V|M287V MIM:124030|PharmGKB:PA128 hCV34816113 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 TCTGGTCGCCGCACCTGCCCTATCA[C/T]GTCGTCGATCTCCTGTTGGACACGG 40853554 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 .09 0 0 Homo sapiens C__34816114_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*51,g.3172A>C G/T E334A|E283A MIM:124030|PharmGKB:PA128 hCV34816114 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 CACCTGCCCTATCACGTCGTCGATC[G/T]CCTGTTGGACACGGCCTGGACAGAC 40853565 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 0 0 0 Homo sapiens C__34816116_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*2M,g.2988G>A|CYP2D6*41,g.2988G>A|CYP2D6*41A,g.2988G>A C/T | MIM:124030|PharmGKB:PA128 rs28371725 hCV34816116 Intron|Intron cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 TTCATGGGCCCCCGCCTGTACCCTT[C/T]CTCCCTCGGCCCCTGCACTGTTTCC 40853749 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 .11 .04 0 .02 Homo sapiens C__34816123_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*4F,g.1858C>T A/G R173C|R122C MIM:124030|PharmGKB:PA128 hCV34816123 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 GCTTTGTCCAAGAGACCGTTGGGGC[A/G]AAAGGGGCGTCCTGGGGGTGGGAGA 40854879 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 0 0 0 Homo sapiens C__34816127_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*2L,g.1513C>T|CYP2D6*41B,g.1513C>T A/G | MIM:124030|PharmGKB:PA128 hCV34816127 Intron|Intron cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 AACCCTATGCTCCCCCTGGTCTCCC[A/G]CAGTCCCTGGCTCTGTCCAGCTGGT 40855224 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 0 0 0 Homo sapiens C__34816131_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*45A,g.-1011T>C A/G | MIM:124030|PharmGKB:PA128 hCV34816131 | cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 GGCTGCCTGAGGGTCGTCCTCCTCC[A/G]CTGCTTTCTGGCCTCCATGTTTCTG 40857748 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 .01 0 0 Homo sapiens C__34816135_20 CYP2C19 CPCJ|CYP2C|CYP 2C|P450C2C|P450IIC19|RP11-400G3.4 CYP2C19*3,c.1251A>C|CYP2C19*3A,c.1251A>C|CYP2C19*3A,g.87313A>C|CYP2C19*3B,c.1251A>C|CYP2C19*3B,g.87313A>C A/C G417G MIM:124020|PharmGKB:PA124 rs17886522 hCV34816135 Silent Mutation cytochrome P450, family 2, subfamily C, polypeptide 19 NM_000769 CTCGTCACTTTCTGGATGAAGGTGG[A/C]AATTTTAAGAAAAGTAACTACTTCA 96599765 NCBI Build 36.2 Human 10q,10q23.33c,10q23.33,10q23.3,10q23,10q2 10 0 .03 .14 .03 Homo sapiens C__34816136_20 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 CYP2C9*13,c.269T>C|CYP2C9*13,g.3276T>C C/T P90L MIM:601130|PharmGKB:PA126 hCV34816136 Mis-sense Mutation cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 GCAGTGAAGGAAGCCCTGATTGATC[C/T]TGGAGAGGAGTTTTCTGGAAGAGGC 96691705 NCBI Build 36.2 Human 10q,10q23.33c,10q23.33,10q23.3,10q23,10q2 10 0 0 0 0 Homo sapiens C__34816138_20 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 CYP2C9*18,g.-1537G>A|CYP2C9*3A,g.-1537G>A|CYP2C9*3B,g.-1537G>A A/G MIM:601130|PharmGKB:PA126 hCV34816138 cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 AAATGGGTCAATTTTATTGTAAGCA[A/G]AGGTAATTGAGAGATTCAAAAGGGA 96686893 NCBI Build 36.2 Human 10q,10q23.33c,10q23.33,10q23.3,10q23,10q2 10 .1 .03 .07 .01 Homo sapiens C__34816139_10 CYP2R1 MGC4663 CYP2R1*2,c.296T>C A/G P99L MIM:608713 hCV34816139 Mis-sense Mutation cytochrome P450, family 2, subfamily R, polypeptide 1 NM_024514 TGCAAAAATTTCGCTTTGATGAACA[A/G]GGCATTCCTTTACTACATCATAGCC 14863969 NCBI Build 36.2 Human 11p,11p15.2b,11p15.2,11p15,11p1 11 0 .01 0 0 Homo sapiens C__34816140_20 UGT1A10 UDPGT|UGT1J UGT1A10*2,g.177G>A|UGT1A10*5,g.177G>A A/G I59M MIM:606435 hCV34816140 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A10 NM_019075 GGGGGCATGAGGTGGTTGTAGTCAT[A/G]CCAGAGGTGAGTTGGCAACTGGAAA 234210084 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 .01 0 Homo sapiens C__34816141_20 UGT1A10 UDPGT|UGT1J UGT1A10*3,g.605C>T|UGT1A10*6,g.605C>T C/T T202I MIM:606435 hCV34816141 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A10 NM_019075 CTCTTAGGGTTCTCAGATGCCATGA[C/T]TTTCAAGGAGAGAGTATGGAACCAC 234210512 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 .01 Homo sapiens C__34816142_20 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI UGT1A9*4,c.726T>G|UGT1A9*4,g.726T>G G/T *242Y MIM:606434|PharmGKB:PA419 hCV34816142 Nonsense Mutation UDP glucuronosyltransferase 1 family, polypeptide A9 NM_021027 TTCTCCAAACACCTGTTACGGAGTA[G/T]GATCTCTACAGCCACACATCAATTT 234246045 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C__34816143_20 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI UGT1A9*5,c.766G>A|UGT1A9*5,g.766G>A A/G N256D MIM:606434|PharmGKB:PA419 hCV34816143 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A9 NM_021027 CACATCAATTTGGTTGTTGCGAACG[A/G]ACTTTGTTTTGGACTATCCCAAACC 234246085 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 .01 0 Homo sapiens C__34816144_10 UGT1A1 GNT1|UGT1|UDPGT|UGT1A|HUG-BR1 UGT1A1*14,g.826G>C C/G R276G MIM:191740|PharmGKB:PA420 hCV34816144 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463 CATCATGCCCAATATGGTTTTTGTT[C/G]GTGGAATCAACTGCCTTCACCAAAA 234334498 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C__34816145_10 UGT1A1 GNT1|UGT1|UDPGT|UGT1A|HUG-BR1 UGT1A1*10,g.1021C>T C/T MIM:191740|PharmGKB:PA420 hCV34816145 Intron UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463 TTGACTCCTAGGTTTGAGTCTGTCT[C/T]TGGCATCATCTTCTGGATGATTTCT 234334693 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C__34816146_10 CYP1A2 CP12|P3-450|P450(PA) CYP1A2*14,g.5112C>T C/T T438I MIM:124060|PharmGKB:PA27093 hCV34816146 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 GAGCGGTTCCTCACCGCCGATGGCA[C/T]TGCCATTAACAAGCCCTTGAGTGAG 72834244 NCBI Build 36.2 Human 15q,15q24.1b,15q24,15q24.1,15q2 15 0 0 .01 0 Homo sapiens C__34816147_10 CYP1A2 CP12|P3-450|P450(PA) CYP1A2*3,g.2385G>A A/G MIM:124060|PharmGKB:PA27093 hCV34816147 Acceptor Splice Site cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 CTCTGCTTGTCCTCTGTGTTCTACA[A/G]ACACTGTGATTGGCAGGGAGCGGCG 72831517 NCBI Build 36.2 Human 15q,15q24.1b,15q24,15q24.1,15q2 15 0 0 0 0 Homo sapiens C__34816151_10 CYP1A2 CP12|P3-450|P450(PA) CYP1A2*11,g.558C>A A/C L186F MIM:124060|PharmGKB:PA27093 hCV34816151 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 AGCTGATGGCAGGGCCTGGGCACTT[A/C]GACCCTTACAATCAGGTGGTGGTGT 72829690 NCBI Build 36.2 Human 15q,15q24.1b,15q24,15q24.1,15q2 15 0 0 0 0 Homo sapiens C__34816152_20 CYP1A2 CP12|P3-450|P450(PA) CYP1A2*10,g.502G>C C/G Q168E MIM:124060|PharmGKB:PA27093 hCV34816152 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 CTACCTGGAGGAGCATGTGAGCAAG[C/G]AGGCTAAGGCCCTGATCAGCAGGTT 72829634 NCBI Build 36.2 Human 15q,15q24.1b,15q24,15q24.1,15q2 15 0 0 0 0 Homo sapiens C__34816154_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*31,g.295A>G A/G MIM:201910 hCV34816154 Acceptor Splice Site cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 GCTGACGCTGCTTTGGCTGTCTCCC[A/G]GATGTGGTGGTGCTGAACTCCAAGA 32114476 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C__34255546_10 SULT2B1 HSST2 C/T S36L|S51L MIM:604125|PharmGKB:PA36249 rs16982149 hCV34255546 Mis-sense Mutation|Mis-sense Mutation sulfotransferase family, cytosolic, 2B, member 1 NM_004605|NM_177973 CTGTACTCGCTCGAGAGCATCAGCT[C/T]GGCGGAGAACACCCAAGATGTGCGG 53771090 NCBI Build 36.2 Human 19q,19q13.32c,19q13.32,19q13.3,19q13,19q1 19 .02 0 0 0 Homo sapiens C__34255573_10 SULT2B1 HSST2 A/G K185K|K200K MIM:604125|PharmGKB:PA36249 rs16982159 hCV34255573 Silent Mutation|Silent Mutation sulfotransferase family, cytosolic, 2B, member 1 NM_004605|NM_177973 ACATTAAGGGCTGGCTTCGGATGAA[A/G]GGCAAAGACAACTTCCTATTTATCA 53787840 NCBI Build 36.2 Human 19q,19q13.32c,19q13.32,19q13.3,19q13,19q1 19 .01 0 0 0 Homo sapiens C__34816076_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6*17,c.1093G>A|CYP2A6*17,g.5065G>A C/T M365V MIM:122720|PharmGKB:PA121 rs28399454 hCV34816076 Mis-sense Mutation cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 CTGCGGGCCAAACTCATGGGGATCA[C/T]GTCTCCAAATCTTTGGATCTCGTGG 46043107 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 .08 0 0 Homo sapiens C___2965938_30 SLC22A3 EMT|EMTH|OCT3 C/T MIM:604842|PharmGKB:PA330 rs668871 hCV2965938 solute carrier family 22 (extraneuronal monoamine transporter), member 3 NM_021977 ACCCACTCGCCGCCTTCCCCAACCG[C/T]TCGGCTCCCCTTGTGCCGTGCCGCG 160689801 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 .45 .42 .27 .3 Homo sapiens C___3111809_20 SLC22A2 OCT2|MGC32628 A/C A270S MIM:602608|PharmGKB:PA331 rs316019 hCV3111809 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 2 NM_003058 AGCAAGAAGAAGAAGTTGGGCAGAG[A/C]AACTGTGAACTGCAACCACCTCCAG 160590272 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 .21 .1 .14 .13 Homo sapiens C___2977319_30 ALDH3A1 ALDH3|ALDHIII|MGC10406 A/T P247P MIM:100660 rs2072330 hCV2977319 Silent Mutation aldehyde dehydrogenase 3 family, memberA1 NM_000691 TCGAGGGGTCACAGAGGATGTAGTC[A/T]GGGGCCACGCAGGTCTGGCCACTGT 19585064 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 .44 .09 .35 .23 Homo sapiens C___2977322_40 ALDH3A1 ALDH3|ALDHIII|MGC10406 C/G P329A MIM:100660 rs2228100 hCV2977322 Mis-sense Mutation aldehyde dehydrogenase 3 family, memberA1 NM_000691 CCGAAGATCTCCTCTTGCATCACCG[C/G]GGACTGGGGGTCCACGTCCGTGAGG 19583544 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 .32 .47 .41 .37 Homo sapiens C___3120981_20 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 A/G MIM:126065 rs4809957 hCV3120981 UTR 3 cytochrome P450, family 24, subfamily A, polypeptide 1 NM_000782 GCAAGACAGAACAGGCTCCCAGGCC[A/G]TTCTAAGCACCTGAAGATGGTGCTG 52204578 NCBI Build 36.2 Human 20q,20q13.2c,20q13.2,20q13,20q1 20 .19 .38 .34 .34 Homo sapiens C___3120982_30 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 A/G MIM:126065 rs2762934 hCV3120982 UTR 3 cytochrome P450, family 24, subfamily A, polypeptide 1 NM_000782 TGCCTTGGATCCCAGCACTCAGTCC[A/G]CTTCCCTGAGTTGGATATGATGTTA 52204668 NCBI Build 36.2 Human 20q,20q13.2c,20q13.2,20q13,20q1 20 .16 .15 .13 .11 Homo sapiens C___2991263_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 rs1048099 hCV2991263 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TCAGGATCCACCGCAGGTTGTGCCC[A/G]GGGAAATGAAGCCATGTGCTGTGGT 17453092 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 .5 .33 .44 .3 Homo sapiens C___3036255_30 SLC7A7 LPI|LAT3|Y+LAT1|y+LAT-1 A/G MIM:603593|PharmGKB:PA35925 rs2281677 hCV3036255 UTR 5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 NM_003982 AGCAGGTTCTCACGGCAGTGTGAGC[A/G]GCAGTCAGGGAGAGAAGTGCCTTCC 22354412 NCBI Build 36.2 Human 14q,14q11.2f,14q11.2,14q1,14q11 14 .36 .46 .27 .27 Homo sapiens C___1026086_70 CYP27A1 CTX|CP27|CYP27 A/G P146P MIM:606530 rs692003 hCV1026086 Silent Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 ACCAGCACGACCTGACCTATGGGCC[A/G]TTCACCACGTGAGCTGGGGCCTGAA 219382726 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 .2 0 0 Homo sapiens C___1026099_20 CYP27A1 CTX|CP27|CYP27 C/T Q159* MIM:606530 hCV1026099 Nonsense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 AGGACACCACTGGTACCAGCTGCGC[C/T]AGGCTCTGAACCAGCGGTTGCTGAA 219385217 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 0 0 0 Homo sapiens C___1026100_20 CYP27A1 CTX|CP27|CYP27 C/T R137W MIM:606530 hCV1026100 Mis-sense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 CGACATGGAGCTATGGAAGGAGCAC[C/T]GGGACCAGCACGACCTGACCTATGG 219382697 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 0 0 0 Homo sapiens C___1035370_30 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 A/T | MIM:602783 rs458440 hCV1035370 UTR 3| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 ATGGAACACTTCGAGTTCCCAGGGT[A/T]ATAGACAGTCGTTCCCAGTGTGGCT 88151280 NCBI Build 36.2 Human 16q,16q24.3b,16q24.3,16q24,16q2 16 0 0 0 0 Homo sapiens C___1035492_30 NQO1 DTD|QR1|DHQU|DIA4|NMOR1|NMORI C/T E24E|E24E|E24E MIM:125860|PharmGKB:PA31744 rs689453 hCV1035492 Silent Mutation|Silent Mutation|Silent Mutation NAD(P)H dehydrogenase, quinone 1 NM_000903|NM_001025433|NM_001025434 TCTTCTTCAAAGCCGCTGCAGCAGC[C/T]TCCTTCATGGCATAGTTGAAGGACG 68309874 NCBI Build 36.2 Human 16q,16q22.1e,16q22.1,16q22,16q2 16 .06 .05 0 0 Homo sapiens C___1046354_30 NR3C1 GR|GCR|GRL|GCCR C/G N517K|N517K|N517K|N517K|N517K|N517K|N518K MIM:138040|PharmGKB:PA181 rs33391 hCV1046354 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 GTAACGTTGCAGGAACTATTGTTTT[C/G]TTACCAGGATTTTCAGAGGTTTCTT 142660439 NCBI Build 36.2 Human 5q,5q31.3e,5q31.3,5q3,5q31 5 0 0 0 0 Homo sapiens C___1046359_40 NR3C1 GR|GCR|GRL|GCCR A/G |||||| MIM:138040|PharmGKB:PA181 rs258751 hCV1046359 |||||| nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 CAAATAGCTCTTGGCTCTTCAGACC[A/G]TCCTTAGGAACTAAAAGGTTAAGAT 142642473 NCBI Build 36.2 Human 5q,5q31.3e,5q31.3,5q3,5q31 5 0 .09 .12 .09 Homo sapiens C___1049615_20 GSTP1 PI|DFN7|GST3|FAEES3 C/T A114V MIM:134660|PharmGKB:PA29028 rs1138272 hCV1049615 Mis-sense Mutation glutathione S-transferase pi NM_000852 ATACATGGTGGTGTCTGGCAGGAGG[C/T]GGGCAAGGATGACTATGTGAAGGCA 67110155 NCBI Build 36.2 Human 11q,11q13.2,11q13.2a,11q13,11q1 11 .05 .02 0 0 Homo sapiens C___1115304_20 EPHX1 MEH|EPHX|EPOX A/C Y374S MIM:132810|PharmGKB:PA27829 hCV1115304 Mis-sense Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 ACCATCATCTCCTCCCAGCGCTTCT[A/C]CAAGGAGAACCTGGGACAGGGCTGG 224098902 NCBI Build 36.2 Human 1q,1q42.12c,1q42.12,1q42.1,1q42,1q4 1 0 0 0 0 Homo sapiens C___1147370_20 ALDH3B2 ALDH8 A/C | MIM:601917 rs7947978 hCV1147370 UTR 5|Intron aldehyde dehydrogenase 3 family, member B2 NM_000695|NM_001031615 CTGCTGACTGCGATCCTCCCAGGAG[A/C]CTGGCAGCTCCCAAACCAACTCCCG 67198619 NCBI Build 36.2 Human 11q,11q13.2,11q13.2a,11q13,11q1 11 .14 .37 .07 .21 Homo sapiens C___3051424_30 SULT1A1 PST|STP|STP1|P-PST|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2 T/C |||| MIM:171150|PharmGKB:PA343 rs2077412 hCV3051424 UTR 5|UTR 5|||Intron sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 CGCCCGCAGTGGCTGATTGTGGGTG[T/C]TGTGTGGGGAATGCAGGGTTGTTCT 28528812 NCBI Build 36.2 Human 16p,16p11,16p11.2e,16p11.2,16p1 16 .27 .21 .36 .46 Homo sapiens C___1173642_30 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860 UGT1A6*2,c.552A>C|UGT1A6*2a,c.552A>C|UGT1A6*2a,g.552A>C|UGT1A6*2b,c.552A>C|UGT1A6*2b,g.552A>C|UGT1A6*2c,c.552A>C|UGT1A6*2c,g.552A>C|UGT1A6*2d,c.552A>C|UGT1A6*2d,g.552A>C|UGT1A6*2e,c.552A>C|UGT1A6*2e,g.552A>C|UGT1A6*3,c.552A>C|UGT1A6*4a,c.552A>C|UGT1A6*4a,g.552A>C|UGT1A6*4b,c.552A>C|UGT1A6*4b,g.552A>C|UGT1A6*4c,c.552A>C|UGT1A6*4c,g.552A>C|UGT1A6*6,c.552A>C|UGT1A6*6,g.552A>C|UGT1A6*7,c.552A>C|UGT1A6*7,g.552A>C|UGT1A6*8,c.552A>C|UGT1A6*8,g.552A>C|UGT1A6*9,c.552A>C|UGT1A6*9,g.552A>C A/C || MIM:606431|PharmGKB:PA37181 rs1105879 hCV1173642 ||Intron UDP glucuronosyltransferase 1 family, polypeptide A6 NM_001072|NM_007120|NM_205862 GTTCCCTGGAGCATACATTCAGCAG[A/C]AGCCCAGACCCTGTGTCCTACATTC 234266941 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 .41 .3 .22 .13 Homo sapiens C___3060347_60 CYP4F11 C/T N446D rs1060463 hCV3060347 Mis-sense Mutation cytochrome P450, family 4, subfamily F, polypeptide 11 NM_021187 GACCTCTCCTTGATGTTCTCTTGGT[C/T]GAAACGGAAGGGGTCGTAGACCTGC 15886176 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 .47 .49 .41 .37 Homo sapiens C___1204093_20 NAT2 AAC2 NAT2*14C,g.341T>C|NAT2*14F,g.341T>C|NAT2*5A,g.341T>C|NAT2*5B,g.341T>C|NAT2*5C,g.341T>C|NAT2*5D,g.341T>C|NAT2*5E,g.341T>C|NAT2*5F,g.341T>C|NAT2*5G,g.341T>C|NAT2*5H,g.341T>C|NAT2*5I,g.341T>C|NAT2*5J,g.341T>C C/T PharmGKB:PA18|MIM:243400 rs1801280 hCV1204093 N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 GTTCACCTTCTCCTGCAGGTGACCA[C/T]TGACGGCAGGAATTACATTGTCGAT 18302134 NCBI Build 36.2 Human 8p,8p22a,8p22,8p2 8 .46 .32 0 .03 Homo sapiens C___1205144_40 GSTA4 GTA4|GSTA4-4|DKFZp686D21185|RP1-214M20.1 G/T MIM:605450 rs367836 hCV1205144 UTR 3 glutathione S-transferase A4 NM_001512 TGATATTTCTAGAAGAGATGATCTC[G/T]TTGACACAAAAGACCCAACTTAGGA 52951090 NCBI Build 36.2 Human 6p,6p12.1,6p12.1d,6p1,6p12 6 .37 .47 .2 .28 Homo sapiens C___1207695_20 CHST11 C4ST|C4ST1|C4ST-1|HSA269537 C/T MIM:610128 rs7847 hCV1207695 carbohydrate (chondroitin 4) sulfotransferase 11 NM_018413 TTTGTGGAGTGTGATTTTCTTTTTT[C/T]ACATATTTGTATGCAGTAGAGAGCC 103679735 NCBI Build 36.2 Human 12q,12q23.3b,12q23.3,12q23,12q2 12 .28 .22 .17 .33 Homo sapiens C___1207697_20 CHST11 C4ST|C4ST1|C4ST-1|HSA269537 C/T MIM:610128 rs2453155 hCV1207697 carbohydrate (chondroitin 4) sulfotransferase 11 NM_018413 ATGGTTCTAATCCTGGATACTGCCA[C/T]GGACTACAATTCTATCCCTCCCAGA 103678265 NCBI Build 36.2 Human 12q,12q23.3b,12q23.3,12q23,12q2 12 .32 .38 .39 .49 Homo sapiens C___1207698_20 CHST11 C4ST|C4ST1|C4ST-1|HSA269537 A/G MIM:610128 rs2463437 hCV1207698 carbohydrate (chondroitin 4) sulfotransferase 11 NM_018413 AGTCTCCATCTGGTTTATAGCAACA[A/G]AGGTACTTTATTTAATGAAGCAATG 103678217 NCBI Build 36.2 Human 12q,12q23.3b,12q23.3,12q23,12q2 12 .29 .37 .4 .41 Homo sapiens C___1207700_20 CHST11 C4ST|C4ST1|C4ST-1|HSA269537 C/T MIM:610128 rs903247 hCV1207700 carbohydrate (chondroitin 4) sulfotransferase 11 NM_018413 TATACCCTTGATGGATGGAGATTTA[C/T]GCAATGTGTTTTACTGGGTAGAGTG 103677700 NCBI Build 36.2 Human 12q,12q23.3b,12q23.3,12q23,12q2 12 .32 .41 .42 .44 Homo sapiens C___1218665_20 POR DKFZp686G04235|CPR|CYPOR|P450R|FLJ26468 A/G S572S MIM:124015|PharmGKB:PA33532 rs1057870 hCV1218665 Silent Mutation P450 (cytochrome) oxidoreductase NM_000941 TGCTGTACTACGGCTGCCGCCGCTC[A/G]GATGAGGACTACCTGTACCGGGAGG 75453223 NCBI Build 36.2 Human 7q,7q11.23e,7q11.23,7q11.2,7q11,7q1 7 .41 .19 .03 .02 Homo sapiens C___1253768_20 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 G/T || MIM:171060|PharmGKB:PA268 rs11979496 hCV1253768 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 CATATCAGTCTACCATGACCATGAG[G/T]ATTCTCTTCTTAAATCAACCCAAAT 86944616 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 0 .15 0 0 Homo sapiens C___1253826_10 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 C/T MIM:171050|PharmGKB:PA267 rs10276036 hCV1253826 Intron ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 AACCATCAGGCTACTGAGATAGTGA[C/T]AGCAATTTTTTTTCATACTTCTTCT 87018134 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 .48 .24 .33 .34 Homo sapiens C___3184518_70 GSTM3 GST5|GSTB|GTM3|GSTM3-3|MGC3310|MGC3704 C/T I224V MIM:138390 rs7483 hCV3184518 Mis-sense Mutation glutathione S-transferase M3 (brain) NM_000849 GCAAGTCTGCCTCCTGCTCAGCATA[C/T]AGGCTTGTTGCCCCACTGGGCCATC 110081224 NCBI Build 36.2 Human 1p,1p13.3b,1p13.3,1p1,1p13 1 .3 .11 .27 .25 Homo sapiens C___3184522_30 GSTM3 GST5|GSTB|GTM3|GSTM3-3|MGC3310|MGC3704 G/T MIM:138390 rs1332018 hCV3184522 UTR 5 glutathione S-transferase M3 (brain) NM_000849 TGTGAGCGGGAGGGGCTTTATACCC[G/T]ACATAAGGGGGCGGGGCCCACGCGC 110084495 NCBI Build 36.2 Human 1p,1p13.3b,1p13.3,1p1,1p13 1 .44 .14 .24 .12 Homo sapiens C___3188393_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T MIM:609506 rs8176351 hCV3188393 UTR 3 cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 CTCTCAAAGAGCTTACATGCAAAGA[C/T]GAAGGACCAACCAGGTACAGACCAG 56442777 NCBI Build 36.2 Human 12q,12q14.1,12q14,12q14.1a,12q1 12 0 .03 0 0 Homo sapiens C___3188814_30 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 C/T | MIM:603234 rs2238472 hCV3188814 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 AGGTCGGTATCTTAGCCCAAAGTCC[C/T]GGAACTCGATCTGCCCGCCCTGAGG 16159100 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 .27 .07 .16 .08 Homo sapiens C___3188829_30 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/T |||| MIM:158343|PharmGKB:PA244 rs212090 hCV3188829 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 AGAACAATCAATGCTGTTATTACTG[A/T]TCCCACCATGATTGATGTGGGGTAA 16143505 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 .46 .19 .24 .12 Homo sapiens C___3188834_30 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G |||| MIM:158343|PharmGKB:PA244 rs2239330 hCV3188834 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TGGGGCGGACGGGAGCTGGGAAGTC[A/G]TCCCTGACCCTGGGCTTATTTCGGA 16135743 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 .27 .09 .18 .07 Homo sapiens C___3079502_10 SLC28A2 CNT2|HCNT2|SPNT1|HsT17153|MGC138252 C/T MIM:606208|PharmGKB:PA386 rs11854484 hCV3079502 solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 NM_004212 ACAGTGGAGACTGGCACAGTGAACC[C/T]GGGGCTGGAGCTCATGGTAATCACC 43332770 NCBI Build 36.2 Human 15q,15q21.1,15q21.1a,15q2,15q21 15 .36 .18 .01 .09 Homo sapiens C___3099975_20 CYP1B1 CP1B|GLC3A A/G MIM:601771|PharmGKB:PA27094 rs1056837 hCV3099975 cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 TGGTCAGGTCCTTGTTGATGAGGCC[A/G]TCCTTGTCCAAGAATCGAGCTGGAT 38151654 NCBI Build 36.2 Human 2p,2p22.2a,2p22.2,2p22,2p2 2 .49 .28 .18 .09 Homo sapiens C___3099976_30 CYP1B1 CP1B|GLC3A CYP1B1*3,g.4326C>G|CYP1B1*5,g.4326C>G|CYP1B1*6,g.4326C>G|CYP1B1*7,g.4326C>G C/G L432V MIM:601771|PharmGKB:PA27094 rs1056836 hCV3099976 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 AAGTTCTCCGGGTTAGGCCACTTCA[C/G]TGGGTCATGATTCACAGACCACTGG 38151707 NCBI Build 36.2 Human 2p,2p22.2a,2p22.2,2p22,2p2 2 .49 .28 .18 .09 Homo sapiens C___3101331_10 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 A/G Q312R MIM:604988 rs12422149 hCV3101331 Mis-sense Mutation solute carrier organic anion transporter family, member 2B1 NM_007256 GAAAAACGTGAGCTTCAGTTTCGGC[A/G]AAAGGTCTTAGCAGTCACAGACTCA 74561225 NCBI Build 36.2 Human 11q,11q13.4c,11q13.4,11q13,11q1 11 .16 .16 .34 .3 Homo sapiens C___1253769_20 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || MIM:171060|PharmGKB:PA268 rs3747806 hCV1253769 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 GAGGATTCTCTTCTTAAATCAACCC[A/G]AATTCCTTCCCTTCACTGGTCTAAC 86944638 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 .04 .22 0 0 Homo sapiens C___3189036_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 G/T | MIM:603234 rs8058694 hCV3189036 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 CCTGGGACCAGGCGAAGGTGGCACT[G/T]TGTATGGTGATGCAATCCTTCCCGG 16186364 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 .42 .33 .15 .09 Homo sapiens C__27861780_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/C C93F MIM:609300 hCV27861780 Mis-sense Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 ACTTACCATTTGAGGCCGCCCAGAG[A/C]AGTCCTTGCCCTTCTTAATAAGCAC 104586831 NCBI Build 36.2 Human 10q,10q24.32b,10q24.32,10q24.3,10q24,10q2 10 0 0 0 0 Homo sapiens C__27861781_20 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/G R96W MIM:609300 hCV27861781 Mis-sense Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 TGGGCACCACTTACCATTTGAGGCC[A/G]CCCAGAGAAGTCCTTGCCCTTCTTA 104586823 NCBI Build 36.2 Human 10q,10q24.32b,10q24.32,10q24.3,10q24,10q2 10 0 0 0 0 Homo sapiens C__27861783_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/T H373L MIM:609300 hCV27861783 Mis-sense Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 ACACCTGGAGTCAACGTTGGCCTTG[A/T]GGGGGATGAGCATAGGGGCCACGGG 104582279 NCBI Build 36.2 Human 10q,10q24.32b,10q24.32,10q24.3,10q24,10q2 10 0 0 0 0 Homo sapiens C__27861784_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 C/G P409R MIM:609300 hCV27861784 Mis-sense Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 AGACTCACCAGGCATGAACTGATCC[C/G]GCTGGTGCCACTCCTTCTCATTGTG 104581272 NCBI Build 36.2 Human 10q,10q24.32b,10q24.32,10q24.3,10q24,10q2 10 0 0 0 0 Homo sapiens C__27861787_10 CYP1B1 CP1B|GLC3A A/G T1M MIM:601771|PharmGKB:PA27094 hCV27861787 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 GTCGTTCGGGCTGAGGCTGGTGCCC[A/G]TGCTGGGGACAGAGAGGAGAAGGCG 38156034 NCBI Build 36.2 Human 2p,2p22.2a,2p22.2,2p22,2p2 2 0 0 0 0 Homo sapiens C__27861788_20 CYP1B1 CP1B|GLC3A A/G L345F MIM:601771|PharmGKB:PA27094 hCV27861788 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 TCCCAGAGGCTTTACCTGGTGAAGA[A/G]GAGGAGCAGCCACTGCAGCGCGGTG 38155003 NCBI Build 36.2 Human 2p,2p22.2a,2p22.2,2p22,2p2 2 0 0 0 0 Homo sapiens C__27861789_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*30,c.66G>A|CYP21A2*30,g.66G>A A/G *23W MIM:201910 hCV27861789 Nonsense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 GCGCCCGCCTGCTGTGGAACTGGTG[A/G]AAGCTCCGGAGCCTCCACCTCCCGC 32114247 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C__27861790_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*47,c.191G>A|CYP21A2*47,g.191G>A A/G E65G MIM:201910 hCV27861790 Mis-sense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 GGGCCCATCTACAGGCTCCACCTTG[A/G]GCTGCAAGGTGAGAGGCTGATCTCG 32114372 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C__27861791_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*50,c.220A>T|CYP21A2*50,g.317A>T A/T K75* MIM:201910 hCV27861791 Nonsense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 CCCAGATGTGGTGGTGCTGAACTCC[A/T]AGAGGACCATTGAGGAAGCCATGGT 32114498 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C__27861793_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*52,c.533G>C C/G A179G MIM:201910 hCV27861793 Mis-sense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 AGCATCATCTGTTACCTCACCTTCG[C/G]AGACAAGATCAAGGTGCCTCACAGC 32115200 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C__27861798_10 CYP27A1 CTX|CP27|CYP27 A/G E145G MIM:606530 hCV27861798 Mis-sense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 CGGGACCAGCACGACCTGACCTATG[A/G]GCCGTTCACCACGTGAGCTGGGGCC 219382722 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 0 0 0 Homo sapiens C__27861799_20 CYP27A1 CTX|CP27|CYP27 A/T K284* MIM:606530 hCV27861799 Nonsense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 CTTCTCTGTTGCTTTCACAGGGAAG[A/T]AGCTGATTGATGAGAAGCTCGAAGA 219385896 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 0 0 0 Homo sapiens C__27861804_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T E125G MIM:609506 rs28934605 hCV27861804 Mis-sense Mutation cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 AGAGAAGACTCACGCAGTGAGCAGT[C/T]CGCAAGCCCGCTGGCGGCAGCGGCG 56446069 NCBI Build 36.2 Human 12q,12q14.1,12q14,12q14.1a,12q1 12 0 0 0 0 Homo sapiens C__27861805_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/G T321R MIM:609506 hCV27861805 Mis-sense Mutation cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 CACAGCACGGAGGGAGAACCTCACC[C/G]TGTCCACTCCCGCCAATAGCAACTC 56444805 NCBI Build 36.2 Human 12q,12q14.1,12q14,12q14.1a,12q1 12 0 0 0 0 Homo sapiens C______9342_20 ATP7A MK|MNK|RP3-465G10.1 C/T MIM:300011|PharmGKB:PA72 hCV9342 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 AAAAAAGCCAGGTGTAAAATCCATA[C/T]GAGTCTCCCTTGCAAATAGCAATGG 77131999 NCBI Build 36.2 Human Xq,Xq21,Xq21.1a,Xq2,Xq21.1 X 0 0 0 0 Homo sapiens C_______401_20 TPMT A/G S49L MIM:187680|PharmGKB:PA356 hCV401 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 AAGGAAAGTATCTAAATGCTTCTTT[A/G]ATAGCCTGAAGAGGAAAAAAAAAAA 18256120 NCBI Build 36.2 Human 6p,6p22.3d,6p22,6p22.3,6p2 6 0 0 0 0 Homo sapiens C__32407240_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*30,g.1863_1864insTTTCGCCCC|CYP2D6*40,g.1863_1864ins(TTTCGCCCC)2|CYP2D6*58,g.1863_1864insTTTCGCCCC GGGGCGAAAGGGGCGAAA/- | MIM:124030|PharmGKB:PA128 hCV32407240 | cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 TGTCCAAGAGACCGTT[GGGGCGAAAGGGGCGAAA/-]GGGGCGAAAGGGGCGTC 40854874 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 .01 0 0 Homo sapiens C_____12338_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T P315S|P315S MIM:609523 hCV12338 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 CATTTTGTTTATTTTCTTTTTAGCC[C/T]CAACAGTACTTACCGATGTTGATCC 19507240 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C_____12339_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/T N279Y|N279Y MIM:609523 hCV12339 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 AGAAAATATAAAAGAGTCTCCTGAT[A/T]ATGAAAGGATCATCAATCTTCGTCA 19505068 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C_____14532_30 FMO1 C/T MIM:136130 rs7877 hCV14532 UTR 3 flavin containing monooxygenase 1 NM_002021 TAATGCTAGAGAATGATAACTAAGA[C/T]TTCTGTGCATTTGAAGGTTGTTGGA 169521514 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 .27 .33 .29 .19 Homo sapiens C_____14533_30 FMO1 C/T MIM:136130 rs12954 hCV14533 UTR 3 flavin containing monooxygenase 1 NM_002021 ATAAACTGTATTCAAATAGTAAAGG[C/T]CACCCTCTCGCTTCCCTGGCTGGCC 169521418 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 .13 .07 .29 .13 Homo sapiens C_____14938_30 EPHX1 MEH|EPHX|EPOX C/T H113Y MIM:132810|PharmGKB:PA27829 rs1051740 hCV14938 Mis-sense Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 GAAGCAGGTGGAGATTCTCAACAGA[C/T]ACCCTCACTTCAAGACTAAGATTGA 224086256 NCBI Build 36.2 Human 1q,1q42.12c,1q42.12,1q42.1,1q42,1q4 1 .27 .23 .44 .47 Homo sapiens C_____17312_20 ATP7A MK|MNK|RP3-465G10.1 A/G MIM:300011|PharmGKB:PA72 hCV17312 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 TATCATTCCTATATTGCAGTTTTTC[A/G]GAGGCTGGTACTTCTACATTCAGGC 77155038 NCBI Build 36.2 Human Xq,Xq21,Xq21.1a,Xq2,Xq21.1 X 0 0 0 0 Homo sapiens C_____17683_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/C C494F|C428F MIM:610613 hCV17683 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 GATGGCTCTGAAGGTGAGGAGGGGG[A/C]ACATGCTGGGCCTCAATATGAAGCT 143952822 NCBI Build 36.2 Human 8q,8q24.3f,8q24.3,8q24,8q2 8 0 0 0 0 Homo sapiens C_____19567_20 TPMT C/T Y240C MIM:187680|PharmGKB:PA356 rs1142345 hCV19567 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 TCTCATTTACTTTTCTGTAAGTAGA[C/T]ATAACTTTTCAAAAAGACAGTCAAT 18238897 NCBI Build 36.2 Human 6p,6p22.3d,6p22,6p22.3,6p2 6 .03 .08 .03 .01 Homo sapiens C_____19569_20 TPMT C/T H215R MIM:187680|PharmGKB:PA356 hCV19569 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 AAAAGCATCAACCTTCTCAAGACAA[C/T]GTATATTGCATATTTTACCTGAAAC 18238972 NCBI Build 36.2 Human 6p,6p22.3d,6p22,6p22.3,6p2 6 0 0 0 0 Homo sapiens C______2864_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 C/T MIM:601107|PharmGKB:PA116 hCV2864 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392 AAATCTTAGTGGGGGTCAGAAGCAG[C/T]GGATCAGCCTGGCCAGAGCTACCTA 101568567 NCBI Build 36.2 Human 10q,10q24.2c,10q24.2,10q24,10q2 10 0 0 0 0 Homo sapiens C______4028_20 UGT2B11 MGC129611|MGC129612 A/G P289L MIM:603064 rs3890590 hCV4028 Mis-sense Mutation UDP glucuronosyltransferase 2 family, polypeptide B11 NM_001073 AACCAACAAAAGTATGTTTACCTTA[A/G]GTAGGGGTTTGGCAGGTTTGCAGTG 70112884 NCBI Build 36.2 Human 4q,4q13.2c,4q13.2,4q13,4q1 4 0 0 0 0 Homo sapiens C______5842_20 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 A/G R1153C MIM:603201|PharmGKB:PA374 hCV5842 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 TGGGAAACAATTCCAATGTTTGAGC[A/G]GAGGAACTGGACATTTACTTTTTTG 169492073 NCBI Build 36.2 Human 2q,2q24.3f,2q24.3,2q24,2q2 2 0 0 0 0 Homo sapiens C______7825_20 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T Q1268R MIM:603201|PharmGKB:PA374 hCV7825 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 GCGATGGGCAATGACAATGCAGGTC[C/T]GACCCTCTCTGGCTTTGTCTAGAGC 169488541 NCBI Build 36.2 Human 2q,2q24.3f,2q24.3,2q24,2q2 2 0 0 0 0 Homo sapiens C______9263_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T S419F|S419F MIM:609523 hCV9263 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 CACGGAAAACATAGTTTTGATACTT[C/T]TTCTCATCAGCGTCCCTGTTTATTA 19515674 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C______9265_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G K447E|K447E MIM:609523 hCV9265 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 CAGATATCCTCCCAACAGCCAGTCA[A/G]AGGTGGATTGGGGAAAATTTTTTCT 19515757 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C__31107031_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 C/T I353V|I355V| MIM:602883|PharmGKB:PA328 rs11568578 hCV31107031 Mis-sense Mutation|Mis-sense Mutation| solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 AAAACAAACATACCCATTAGAAAGA[C/T]TGCATCTGAAGATGATATTCCATAT 21341617 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 0 Homo sapiens C__31107032_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G P321L|P323L| MIM:602883|PharmGKB:PA328 rs11568579 hCV31107032 Mis-sense Mutation|Mis-sense Mutation| solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 TGCATTGAACTGTATCACACTTACA[A/G]GTATGAAAAGCATATAAATTGGATT 21341712 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 0 Homo sapiens C__31107047_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G R166C|R168C| MIM:602883|PharmGKB:PA328 rs11568564 hCV31107047 Mis-sense Mutation|Mis-sense Mutation| solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 AGGATGGGAGTTTCACCCATTCCAC[A/G]TACAATATTGCCTACTAGGACGTAC 21348715 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 0 Homo sapiens C__31107052_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/T N133I|N135I| MIM:602883|PharmGKB:PA328 rs11568566 hCV31107052 Mis-sense Mutation|Mis-sense Mutation| solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 CGTTGGTCTTAAAATCTGGGTTCCA[A/T]TTTCCATACACAAGAAACTGTTTGA 21351121 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 0 Homo sapiens C__31107109_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G |S17S| MIM:602883|PharmGKB:PA328 rs11568572 hCV31107109 |Silent Mutation| solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 TACAAAAATTCCATACCTTCAACTT[A/G]GAAAGACATCTTATTCTATGGGTTT 21378798 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 .01 Homo sapiens C__31107179_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G || MIM:602883|PharmGKB:PA328 rs10841803 hCV31107179 || solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 GGAAGATGATGATAGTAACATAGCA[A/G]GCACTTCACAAAGCACCGTAAGTGT 21439142 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 .16 .16 .25 .48 Homo sapiens C__31107180_20 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G || MIM:602883|PharmGKB:PA328 rs10841804 hCV31107180 || solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 TTCATCTCACTAGGGAGTGCCAGAC[A/G]ATGGGCGCAGGTCAGTGGGTGCGCG 21439342 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 .11 .1 .24 .49 Homo sapiens C__31107182_50 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 G/T || MIM:602883|PharmGKB:PA328 rs12816889 hCV31107182 || solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 TTTCTGAGTCAAAGAAAGGGGTGAC[G/T]GACGCACCTGGAAAATCGGGTCACT 21439463 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 .21 .07 .07 .03 Homo sapiens C__31107705_10 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 C/T || MIM:601439|PharmGKB:PA396 rs12298510 hCV31107705 || ATP-binding cassette, sub-family C (CFTR/MRP), member 9 NM_005691|NM_020297|NM_020298 ACGTACCGTCCTGACCTCCAGCCAT[C/T]TGTTGGCAGCTGAGAGAAATAAGTA 21873178 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 0 Homo sapiens C__31115191_10 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 C/T L105L MIM:100650|PharmGKB:PA24696 rs13306164 hCV31115191 Silent Mutation aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 GGACGCATCACACAGGGGCCGGCTG[C/T]TGAACCGCCTGGCCGATCTGATCGA 110705438 NCBI Build 36.2 Human 12q2,12q24,12q24.1,12q24.12,12q24.12b,12q 12 0 0 .01 .03 Homo sapiens C__31140777_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CDw338|EST157481|MGC102821 G/T I206L MIM:603756|PharmGKB:PA390 rs12721643 hCV31140777 Mis-sense Mutation ATP-binding cassette, sub-family G (WHITE), member 2 NM_004827 GTTGTAGGCTCATCCAAGAACAAGA[G/T]GGAAGGATCAGTGATAAGCTCCATT 89261884 NCBI Build 36.2 Human 4q2,4q22,4q22.1,4q22.1b,4q 4 0 0 0 0 Homo sapiens C__31140785_60 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CDw338|EST157481|MGC102821 A/G S38S MIM:603756|PharmGKB:PA390 rs12721640 hCV31140785 Silent Mutation ATP-binding cassette, sub-family G (WHITE), member 2 NM_004827 TTACTCGATAGCAGATGTTATGAAA[A/G]CTTAACACAGCTCCTTCAGTAAATG 89280058 NCBI Build 36.2 Human 4q2,4q22,4q22.1,4q22.1b,4q 4 0 0 0 0 Homo sapiens C__11753308_20 CHST3 C6ST|C6ST1 C/T MIM:603799 rs4148949 hCV11753308 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 CTAGGGGCCCTGCTAATGTGGACAG[C/T]AGACTTTATCCCTCCTTCTTACTCT 73440657 NCBI Build 36.2 Human 10q2,10q22.1,10q22,10q22.1e,10q 10 .35 .19 .36 .34 Homo sapiens C__11711719_20 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 C/T I829V MIM:171050|PharmGKB:PA267 rs2032581 hCV11711719 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 GTAATTACAGCAAGCCTGGAACCTA[C/T]AGCCTGCAAAACAAAACAAATTAGA 86998746 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 0 0 Homo sapiens C__11711718_10 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 A/G MIM:171050|PharmGKB:PA267 rs2032588 hCV11711718 Intron ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 GCAACATCAGAAAGATGTGCAATGT[A/G]ACTGCTGATCACCGCAGGGTCTAGC 87017379 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .07 .16 0 0 Homo sapiens C__11711729_10 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 A/T MIM:171050|PharmGKB:PA267 rs17064 hCV11711729 UTR 3 ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 GAAATGTTAAACAGATACCTCTTCA[A/T]AATTCTGTAAGTGTTTGCTTTTAAC 86971406 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .08 .1 0 0 Homo sapiens C__11711731_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/G || MIM:171060|PharmGKB:PA268 rs1922239 hCV11711731 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 GAAAGAAGGCTTGTGGTGACTGGAG[C/G]ACATTATTAAACTCATTAGCACATA 86944750 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 0 0 Homo sapiens C__11731855_20 COMT G/T A72S|A22S MIM:116790|PharmGKB:PA117 rs6267 hCV11731855 Mis-sense Mutation|Mis-sense Mutation catechol-O-methyltransferase NM_000754|NM_007310 GCTGCAGCATGCGGAGCCCGGGAAC[G/T]CACAGAGCGTGCTGGAGGCCATTGA 18330263 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.21,22q11.21c,22q 22 0 0 .1 .01 Homo sapiens C__11731859_10 COMT G/C S34C| MIM:116790|PharmGKB:PA117 rs6270 hCV11731859 Mis-sense Mutation|UTR 5 catechol-O-methyltransferase NM_000754|NM_007310 CTGAGGCACTGGGGCTGGGGCCTGT[G/C]CCTTATCGGCTGGAACGAGTTCATC 18330150 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.21,22q11.21c,22q 22 0 0 0 0 Homo sapiens C__11741507_30 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/C MIM:603377|PharmGKB:PA333 rs1045018 hCV11741507 UTR 5 solute carrier family 22 (organic cation transporter), member 5 NM_003060 CACGCGCAAAGCCCGCCGCGTTCCC[A/C]GACCCCAGGCCGCGCTCTGTGGGCC 131733526 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__11741534_20 SLC22A4 OCTN1|MGC34546|MGC40524 C/G G471G MIM:604190|PharmGKB:PA332 rs10479002 hCV11741534 Silent Mutation solute carrier family 22 (organic cation transporter), member 4 NM_003059 TCACATCCACGGCCTCCAGAGTGGG[C/G]AGCATCATTGCCCCCTACTTTGTTT 131699561 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 .11 .02 0 0 Homo sapiens C__11741850_20 GSTO1 P28|GSTTLp28|DKFZp686H13163 A/G E144E MIM:605482 rs1804834 hCV11741850 Silent Mutation glutathione S-transferase omega 1 NM_004832 AAGAAGACTATGCTGGCCTAAAAGA[A/G]GAATTTCGTAAAGAATTTACCAAGC 106012792 NCBI Build 36.2 Human 10q2,10q25,10q25.1,10q25.1a,10q 10 0 0 0 0 Homo sapiens C__11741851_80 GSTO1 P28|GSTTLp28|DKFZp686H13163 A/C N217T MIM:605482 rs15032 hCV11741851 Mis-sense Mutation glutathione S-transferase omega 1 NM_004832 GATCCCACAGTCTCAGCCCTGCTTA[A/C]TAGTGAGAAAGACTGGCAAGGTTTC 106017077 NCBI Build 36.2 Human 10q2,10q25,10q25.1,10q25.1a,10q 10 0 0 0 0 Homo sapiens C__11741852_20 GSTO1 P28|GSTTLp28|DKFZp686H13163 A/G MIM:605482 rs7589 hCV11741852 UTR 3 glutathione S-transferase omega 1 NM_004832 GAGGCCTGTGACTATGGGCTCTGAA[A/G]GGGGCAGGAGTCAGCAATAAAGCTA 106017155 NCBI Build 36.2 Human 10q2,10q25,10q25.1,10q25.1a,10q 10 0 .31 0 0 Homo sapiens C__11741943_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T R351W MIM:603377|PharmGKB:PA333 hCV11741943 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 GGTCACCATCATGTCCATAATGCTG[C/T]GGTATGTAAAAGAGACCTGCCTGAG 131752611 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__11741945_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/C D301A MIM:603377|PharmGKB:PA333 hCV11741945 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 GCAGAGGTGATCATCCGCAAGGCTG[A/C]CAAAGCCAATGGGATTGTTGTGCCT 131750693 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__11742072_10 UGT1A8 UDPGT|UGT1H UGT1A8*2,c.518C>G|UGT1A8*2,c.518G>C|UGT1A8*2,g.518G>C C/G MIM:606433|PharmGKB:PA37183 rs1042597 hCV11742072 UDP glucuronosyltransferase 1 family, polypeptide A8 NM_019076 TCTGTGGTCTTCGCCAGGGGAATAG[C/G]TTGCCACTATCTTGAAGAAGGTGCA 234191610 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 .24 .08 .47 .41 Homo sapiens C__11742263_10 UGT1A3 UGT1C UGT1A3*2b,g.477A>G|UGT1A3*3b,g.477A>G|UGT1A3*5,g.477A>G A/G |A159A MIM:606428 rs7574296 hCV11742263 Intron|Silent Mutation UDP glucuronosyltransferase 1 family, polypeptide A3 NM_007120|NM_019093 CAGACCCCGTTAACCTCTGCGCGGC[A/G]GTGCTGGCTAAGTACCTGTCGATTC 234302988 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 .5 .22 .25 .32 Homo sapiens C__16193338_40 SLCO1B1 LST-1|OATP2|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G MIM:604843|PharmGKB:PA35842 rs2306282 hCV16193338 solute carrier organic anion transporter family, member 1B1 NM_006446 TTAATTAATCAAATTTTATCACTCA[A/G]TAGAGCATCACCTGAGATAGTGGGA 21221069 NCBI Build 36.2 Human 12p,12p12.1,12p12.1e,12p12,12p1 12 0 0 0 0 Homo sapiens C__16196679_30 FMO2 FLJ40826|FMO1B1 C/T S182F MIM:603955 rs2307492 hCV16196679 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CGCCAATACAAGCATCCAGATGGAT[C/T]TGAGGGAAAACGCATCCTGGTGATT 169435169 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .09 .14 .02 .02 Homo sapiens C__16230575_30 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T L189F MIM:603377|PharmGKB:PA333 rs2405518 hCV16230575 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 GACAGGCTTCAGCTTCCTGCAGATC[C/T]TCTCGAAGAATTTTGAGATGTTTGT 131747805 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__26204088_30 CYP11A1 CYP11A|P450SCC C/T | MIM:118485 rs1130841 hCV26204088 | cytochrome P450, family 11, subfamily A, polypeptide 1 NM_000781|NM_001099773 CCTGGGGGCACTCAGAAAGGTCTGG[C/T]AGCCTTTGACCAGGACTGAGCGTGG 72446933 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 0 0 0 0 Homo sapiens C__26236586_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/T | MIM:610613 rs1137487 hCV26236586 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 CTCGGGACCTTCCCCAGGGGACAGC[A/T]CAGGAAGCAGAGGACCCAACACCCA 143952076 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 .01 Homo sapiens C__26236588_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/G | MIM:610613 rs1137485 hCV26236588 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 GGAAGCAGAGGACCCAACACCCACT[C/G]CTGGAACAAGGCCTGGTCCATGAAA 143952104 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236589_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G | MIM:610613 rs1137484 hCV26236589 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 ACCCAACACCCACTCCTGGAACAAG[A/G]CCTGGTCCATGAAAGATGAGGCCTG 143952115 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236590_30 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | MIM:610613 rs1137483 hCV26236590 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 GGAACAAGGCCTGGTCCATGAAAGA[C/T]GAGGCCTGGGGCATGAGGCTGACAC 143952132 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236591_30 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | MIM:610613 rs5302 hCV26236591 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 TCCATGAAAGATGAGGCCTGGGGCA[C/T]GAGGCTGACACGATCAGCTGGGGAA 143952146 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236592_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | MIM:610613 rs1137481 hCV26236592 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 TGAGGCCTGGGGCATGAGGCTGACA[C/T]GATCAGCTGGGGAACACACGTCCCT 143952157 NCBI Build 36.2 Human 8q,8q24.3f,8q24.3,8q24,8q2 8 0 .01 0 0 Homo sapiens C__26236593_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | MIM:610613 rs1137480 hCV26236593 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 GACACGATCAGCTGGGGAACACACG[C/T]CCCTCGAGACTCAGTTGTATCACTT 143952178 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236594_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | MIM:610613 rs5301 hCV26236594 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 TACCCTGCAGGACCCTATTCCAGGG[C/T]GACAACTTTCAGAGAGCTCAGGGCA 143952275 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 .48 .4 .15 .13 Homo sapiens C__26236595_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 G/T | MIM:610613 rs5300 hCV26236595 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 AGGGGTCAGGCTGCAGGAGGGAACT[G/T]GACTGGACTCTGAGATGCTGGGATC 143952340 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236596_50 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G T477T|T411T MIM:610613 rs5296 hCV26236596 Silent Mutation|Silent Mutation cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 TGTAGACCATCTTTATGTCCTCTTG[A/G]GTTAGTGTCTCCACCTGGAGGTGTT 143952872 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236597_40 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G L451L| MIM:610613 rs5316 hCV26236597 Silent Mutation|Intron cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 TCTCTGCCTCTGCCAGGCGCCGCCC[A/G]AGGCACTGGCGCATGCCAAAGCCAA 143953420 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 .02 0 0 Homo sapiens C__26236612_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T N281S|N281S MIM:610613 rs5291 hCV26236612 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 GATGCTGGTGTACTGTTGAGGGCGG[C/T]TGAAGGCCAGTTCCTGATAGATTTT 143954771 NCBI Build 36.2 Human 8q,8q24.3f,8q24.3,8q24,8q2 8 0 0 0 0 Homo sapiens C__26236620_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/G I160M|I160M MIM:610613 rs5287 hCV26236620 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 AGAAGTCCCTGGCCACTGCATCCAC[C/G]ATCGGGAGGAACCTCTGCACAGCGT 143955556 NCBI Build 36.2 Human 8q,8q24.3f,8q24.3,8q24,8q2 8 0 0 0 0 Homo sapiens C__26236630_40 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G D96D|D96D MIM:610613 rs5284 hCV26236630 Silent Mutation|Silent Mutation cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 TGTCCACCTGTTGCAGCTTCTCCAC[A/G]TCCTCCGGCAGCATCACACACACCA 143957557 NCBI Build 36.2 Human 8q,8q24.3f,8q24.3,8q24,8q2 8 0 0 0 0 Homo sapiens C__26236635_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | MIM:610613 rs6389 hCV26236635 UTR 5|UTR 5 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 CTCTGCCTTTGCCCTGAGTGCCATT[C/T]CAATGCTCCCTCCACCCTGTTCAGC 143958233 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236672_20 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/T MIM:124080|PharmGKB:PA134 rs5312 hCV26236672 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 CACCAAGTCTGAGCTCACCACTCGC[A/T]CCAAAAACAGACCCACAGGGTAGAG 143991277 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236680_20 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/G MIM:124080|PharmGKB:PA134 rs5310 hCV26236680 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 GAGGGCGGTTGAAGGCCAGTTCCTG[A/G]TAGATTTTCTGGATACAGTTGTCAC 143992811 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236693_20 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/G MIM:124080|PharmGKB:PA134 hCV26236693 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 CACACACCATGCGTGGTCCTCCCAA[A/G]TTGTACCTGTGGGGCCAAGCAGGAG 143995626 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__25610851_20 SLC15A1 PEPT1|HPECT1|HPEPT1 A/G MIM:600544|PharmGKB:PA323 rs8187836 hCV25610851 solute carrier family 15 (oligopeptide transporter), member 1 NM_005073 TATTCAAAACTTTAATTTGGACTTC[A/G]TTTCCTTTGGGGAAGACTGGAAGAG 98156479 NCBI Build 36.2 Human 13q3,13q32,13q32.3a,13q32.3,13q 13 0 .02 0 0 Homo sapiens C__25611224_20 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757 C/G L490L MIM:604323|PharmGKB:PA376 rs11568602 hCV25611224 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 3 NM_003786 AATTGAAGGACTCGCGCATCAAGCT[C/G]ATGAGTGAGATCCTGAACGGCATCA 46099952 NCBI Build 36.2 Human 17q21,17q2,17q21.3,17q21.33,17q21.33b,17q 17 .01 .05 0 0 Homo sapiens C__25611237_20 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757 A/G K258E MIM:604323|PharmGKB:PA376 hCV25611237 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 3 NM_003786 CCAGATGGTGGTGCAGCAGCTGCTG[A/G]AGGCATGGAGGAAGCAGGAAAAGCA 46091694 NCBI Build 36.2 Human 17q21,17q2,17q21.3,17q21.33,17q21.33b,17q 17 .01 0 0 0 Homo sapiens C__25611238_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757 C/T T809M MIM:604323|PharmGKB:PA376 rs34675700 hCV25611238 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 3 NM_003786 TCTCCCCAGACGCGAGTGCTGGTGA[C/T]GCACGGCATTAGCTTCCTGCCCCAG 46105845 NCBI Build 36.2 Human 17q21,17q2,17q21.3,17q21.33,17q21.33b,17q 17 .01 0 0 0 Homo sapiens C__25611279_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T K827R MIM:605250|PharmGKB:PA397 hCV25611279 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 CAAATCATCCAAGTGTCCAATGTCT[C/T]TGGAGAAACGATTTAAAATTCTTCC 94566232 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 .01 0 0 Homo sapiens C__25611283_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T M744V MIM:605250|PharmGKB:PA397 rs9282570 hCV25611283 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 CCTCCATTTACAGTGACATTTAGCA[C/T]ACTTTGTTTGTTTGCCCTATGGAAC 94613455 NCBI Build 36.2 Human 13q,13q32.1,13q32,13q32.1a,13q3 13 .01 .03 0 0 Homo sapiens C__25611298_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T K498E MIM:605250|PharmGKB:PA397 rs11568669 hCV25611298 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 TTTTCATATCGTTCCTTTTCGTATT[C/T]CTTCCCAAATAAAATATTACTCCTC 94637009 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 .02 0 0 Homo sapiens C__25611309_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G P403L MIM:605250|PharmGKB:PA397 rs11568705 hCV25611309 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 ATGCACCATCTTTTTACCATCTGAC[A/G]GCAGCTGACGGTTGCGCTGTGATAT 94645146 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 .02 0 0 Homo sapiens C__25611322_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T P1258P MIM:605250|PharmGKB:PA397 rs11568704 hCV25611322 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 TCTCTTTATTTTGCAGCAAAACATA[C/T]GGCTCATCATATTCTTTCAGTCTTC 94484956 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 .02 0 0 Homo sapiens C__25611330_30 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G Y985Y MIM:605250|PharmGKB:PA397 hCV25611330 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 GAAACATCCCCATGAGCGTGAGGGC[A/G]TAGGACAGTGCCAAACCAACCTGCC 94523522 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 0 0 0 Homo sapiens C__25613900_30 CES2 iCE|CE-2|PCE-2|CES2A1 C/T A394A|A394A MIM:605278|PharmGKB:PA377 hCV25613900 Silent Mutation|Silent Mutation carboxylesterase 2 (intestine, liver) NM_003869|NM_198061 ACCCCCAGGAGCTGCTGGCCTCTGC[C/T]GACTTTCAGCCTGTCCCTAGCATTG 65532984 NCBI Build 36.2 Human 16q2,16q22.1a,16q22,16q22.1,16q 16 0 0 0 0 Homo sapiens C__25613901_10 CES2 iCE|CE-2|PCE-2|CES2A1 A/G N42D|N42D MIM:605278|PharmGKB:PA377 hCV25613901 Mis-sense Mutation|Mis-sense Mutation carboxylesterase 2 (intestine, liver) NM_003869|NM_198061 CAAGGCACTGATCCACTGCTGGACA[A/G]ACCCGGGGCAGCCTCTGGGTGAACA 65526971 NCBI Build 36.2 Human 16q2,16q22.1a,16q22,16q22.1,16q 16 0 0 0 0 Homo sapiens C__25614338_30 TYMS TS|TMS|TSase|HsT422|MGC88736 C/G Q100E MIM:188350|PharmGKB:PA359 hCV25614338 Mis-sense Mutation thymidylate synthetase NM_001071 CTTCCAGGGATCCACAAATGCTAAA[C/G]AGCTGTCTTCCAAGGGAGTGAAAAT 652164 NCBI Build 36.2 Human 18p1,18p11.3,18p11.32c,18p11,18p11.32,18p 18 .01 0 0 0 Homo sapiens C__25614349_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T |||| MIM:158343|PharmGKB:PA244 rs8187858 hCV25614349 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TGGCCTTGTGCACATTTGCCGTCTA[C/T]GTGACCATTGACGAGAACAACATCC 16069540 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 .12 .05 0 0 Homo sapiens C__25614385_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G |||| MIM:158343|PharmGKB:PA244 rs4148356 hCV25614385 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 GCCTGGATTCAGAATGATTCTCTCC[A/G]AGAAAACATCCTTTTTGGATGTCAG 16084776 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 0 0 .11 .07 Homo sapiens C__25614424_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G |||| MIM:158343|PharmGKB:PA244 rs35934123 hCV25614424 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TTTTCATGTGTAACCATGTGTCCGC[A/G]CTGGCTTCCAACTATTGGCTCAGCC 16112828 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 0 0 0 0 Homo sapiens C__25614425_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/G |||| MIM:158343|PharmGKB:PA244 rs13337489 hCV25614425 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 ATCGGGGGGATCTTGGCTTCCCGCT[C/G]TCTGCACGTGGACCTGCTGCACAGC 16116184 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 0 .08 0 0 Homo sapiens C__11977294_20 CYP2A13 CPAD|CYP2A CYP2A13*1H,g.2366C>T C/T MIM:608055 rs1645691 hCV11977294 Intron cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 TCAGCTCAGCTCTCTCACCTGGGCA[C/T]ATGTTCCCATCCCCAACTTACCGTA 46288582 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 0 .13 0 .01 Homo sapiens C__11977295_10 CYP2A13 CPAD|CYP2A CYP2A13*1D,g.1757A>G|CYP2A13*1H,g.1757A>G|CYP2A13*2A,g.1757A>G|CYP2A13*2B,g.1757A>G|CYP2A13*3,g.1757A>G A/G MIM:608055 rs1645690 hCV11977295 Intron cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 AGGGGACCCCGAGTGCGAGGGCGGG[A/G]ACCCGCGCTTTCTGCCTGGGGATGG 46287973 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .06 .47 .06 .07 Homo sapiens C__11977870_10 CYP2A7 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 A/G R311C|R260C MIM:608054 rs3869579 hCV11977870 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily A, polypeptide 7 NM_000764|NM_030589 TTCATGAGCAGCAAGAAGCCATAGC[A/G]CAGGGTGGTGCTGACCGTCTCGGTG 46075639 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .44 .45 .41 .47 Homo sapiens C__11977885_10 CYP2A7 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 C/T | MIM:608054 rs1060087 hCV11977885 UTR 3|UTR 3 cytochrome P450, family 2, subfamily A, polypeptide 7 NM_000764|NM_030589 TCTTCCGCGAACCCCGCCCTGACCC[C/T]GCCTTTCCCTGGCCCCGCCCACCAG 46073389 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 0 0 0 0 Homo sapiens C__11977892_20 CYP2A7 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 A/G | MIM:608054 rs1060092 hCV11977892 UTR 3|UTR 3 cytochrome P450, family 2, subfamily A, polypeptide 7 NM_000764|NM_030589 TCCCGCATCTTCCCCCCATTCTTAT[A/G]CCCGCCTCTTCCGCGAACCCCGCCC 46073357 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__11985548_10 DPYD DHP|DPD|MGC70799|MGC132008 A/C MIM:274270|PharmGKB:PA145 hCV11985548 dihydropyrimidine dehydrogenase NM_000110 CCATCCAGCTTCAAAAGCTCTTCGA[A/C]TCATTGATGTGCTGGTGGCTGGAGT 97753931 NCBI Build 36.2 Human 1p2,1p21,1p21.3,1p21.3b,1p 1 0 0 0 0 Homo sapiens C__11990778_30 UGT2B4 UGT2B11 C/T MIM:600067 rs1845555 hCV11990778 UDP glucuronosyltransferase 2 family, polypeptide B4 NM_021139 CAATTACATTGGCCCTTTCTTCTGA[C/T]GTGTTACTGACCATCGACCCCAGAG 70389800 NCBI Build 36.2 Human 4q1,4q13,4q13.2,4q13.2c,4q 4 0 0 0 0 Homo sapiens C__12017839_20 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 A/G MIM:604988 rs1944612 hCV12017839 UTR 5 solute carrier organic anion transporter family, member 2B1 NM_007256 CTGCTAAGCTCCAGGTCCTGAGATT[A/G]AATTAGGGGCTGGAGCTCACTGCAC 74540039 NCBI Build 36.2 Human 11q1,11q13,11q13.4,11q13.4c,11q 11 0 0 .09 .13 Homo sapiens C__12022445_20 ALDH7A1 EPD|PDE|ATQ1 A/C G469V MIM:107323 hCV12022445 Mis-sense Mutation aldehyde dehydrogenase 7 family, member A1 NM_001182 GCCACCACCAGTGTGCTTTTCTCCT[A/C]CTAGAGAAATAAAAAATAATATCAT 125909990 NCBI Build 36.2 Human 5q2,5q23,5q23.2,5q23.2e,5q 5 0 0 0 0 Homo sapiens C__12027651_30 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 G/T E210A MIM:138360 rs6577 hCV12027651 Mis-sense Mutation glutathione S-transferase A2 NM_000846 CTTCCTTGATTCTTCTAAAGATTTC[G/T]CATCCATGGGAGGCTTCCTTGGGCT 52723374 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 .1 .33 .26 .2 Homo sapiens C__12027652_20 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 C/T MIM:138360 rs2266632 hCV12027652 UTR 3 glutathione S-transferase A2 NM_000846 CTTTAGAATACTGGTCTTGCATGTT[C/T]TTGACCTCTATGGCTGGTTTATTAA 52723312 NCBI Build 36.2 Human 6p,6p12.1,6p12.1d,6p1,6p12 6 0 .04 0 0 Homo sapiens C__12027714_50 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 A/G P110S MIM:138360 rs2234951 hCV12027714 Mis-sense Mutation glutathione S-transferase A2 NM_000846 TCTTGTTCCTCAGGTTGACTAAAGG[A/G]CAGAAGAAGGATCATTTCACCCAAA 52725697 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 .02 .01 .08 .1 Homo sapiens C__12027717_30 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 A/T MIM:138360 rs2234952 hCV12027717 UTR 3 glutathione S-transferase A2 NM_000846 GAAATCAATTTTAACTAAGTGGGTG[A/T]ATAGGAGTTGTATTATTTAATTAGC 52723185 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 0 .04 0 0 Homo sapiens C__12063811_30 CYP11A1 CYP11A|P450SCC A/G | MIM:118485 rs6160 hCV12063811 | cytochrome P450, family 11, subfamily A, polypeptide 1 NM_000781|NM_001099773 TCCCCTGGCGCTCCCCAAAAATGAC[A/G]TTAGTGATGGCTGCAGGGAGAGGAA 72423376 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 0 0 0 0 Homo sapiens C__12077301_30 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 A/G |A395A MIM:605251 rs1132776 hCV12077301 |Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 5 NM_001023587|NM_005688 CCACAGTGATGCTCTGGAAGTACCC[A/G]GCTTTTTCCAATATCCGACGCTCCT 185179096 NCBI Build 36.2 Human 3q,3q27.1b,3q27.1,3q27,3q2 3 .44 .3 .22 .15 Homo sapiens C__12091550_20 TPMT C/T MIM:187680|PharmGKB:PA356 rs1800584 hCV12091550 Acceptor Splice Site thiopurine S-methyltransferase NM_000367 AGACAACGTATATTGCATATTTTAC[C/T]TGAAACAAGAAAGAGTAACATGTTA 18238991 NCBI Build 36.2 Human 6p2,6p22.3,6p22,6p22.3d,6p 6 0 0 0 0 Homo sapiens C__12091552_30 TPMT C/G P80A MIM:187680|PharmGKB:PA356 rs1800462 hCV12091552 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 CCAACTACACTGTGTCCCCGGTCTG[C/G]AAACCTGCATAAAATCATACATTTA 18251934 NCBI Build 36.2 Human 6p,6p22.3d,6p22,6p22.3,6p2 6 0 0 0 0 Homo sapiens C__12100556_20 ARS2 ARS2|ASR2|MGC126427 A/C Q71H| rs9735 hCV12100556 Mis-sense Mutation|UTR 5 ARS2 protein NM_015908|NM_182800 GAGAGCGCTTCTCGCCACCTCGCCA[A/C]GAACTCAGCCCGCCACAGAAGCGCA 100316932 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1c,7q 7 0 0 0 0 Homo sapiens C__12118534_30 ATP7A MK|MNK|RP3-465G10.1 C/G MIM:300011|PharmGKB:PA72 rs2227291 hCV12118534 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 TGCCTACTCTTTGATTATTCTTCTA[C/G]TTGCAATGTATGAGAGAGCCAAAGT 77155158 NCBI Build 36.2 Human Xq21.1,Xq2,Xq21.1a,Xq21,Xq X .13 .26 .29 .3 Homo sapiens C__12118535_20 ATP7A MK|MNK|RP3-465G10.1 A/G MIM:300011|PharmGKB:PA72 rs2234936 hCV12118535 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 CTTCATTCTTCTATGTTCCTGGAGC[A/G]CCAGATTCTTCCAGGATTGTCTGTT 77153763 NCBI Build 36.2 Human Xq21.1,Xq2,Xq21.1a,Xq21,Xq X 0 0 0 0 Homo sapiens C__12118536_20 ATP7A MK|MNK|RP3-465G10.1 C/T MIM:300011|PharmGKB:PA72 rs2234935 hCV12118536 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 TGTATTCCTGTAATGGGGCTGATGA[C/T]ATATATGATGGTTATGGACCACCAC 77153661 NCBI Build 36.2 Human Xq21.1,Xq2,Xq21.1a,Xq21,Xq X 0 0 0 .02 Homo sapiens C__12118538_20 ATP7A MK|MNK|RP3-465G10.1 C/T MIM:300011|PharmGKB:PA72 rs2234934 hCV12118538 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 TCAGCCTTCATCGGAAATGCCGCTT[C/T]TGACTTCAACTAATGAATTTTATAC 77140684 NCBI Build 36.2 Human Xq21.1,Xq2,Xq21.1a,Xq21,Xq X 0 0 0 0 Homo sapiens C__25965826_10 ABCC12 MRP9|MGC27071 A/G T649M MIM:607041 hCV25965826 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 CAGGACGACTGTCTTTCCCCTGAGC[A/G]TCTTCTTAATGCACTCCTCAAAGAC 46706870 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 0 0 0 Homo sapiens C__25966311_20 SLC10A1 NTCP|NTCP1 C/T MIM:182396 hCV25966311 solute carrier family 10 (sodium/bile acid cotransporter family), member 1 NM_003049 CGATGCCTTTATAGGGCACCTTGTC[C/T]TTCAGGTCCCCATCATAGATCCCCC 69322681 NCBI Build 36.2 Human 14q2,14q24,14q24.2,14q24.2a,14q 14 .01 0 0 0 Homo sapiens C__25966457_20 ABCC12 MRP9|MGC27071 A/G A616A MIM:607041 rs9302750 hCV25966457 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 GGTAGAGCTGACGGTCGGAGTAGAC[A/G]GCGCGGGCCAGGCTAATCCTCTGCC 46706968 NCBI Build 36.2 Human 16q,16q12.1a,16q12,16q12.1,16q1 16 0 .21 0 0 Homo sapiens C__25971678_30 SLC28A1 CNT1|HCNT1 A/C K237Q| MIM:606207|PharmGKB:PA387 rs8187758 hCV25971678 Mis-sense Mutation| solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 NM_004213|NM_201651 CATTGCGTTCGAGTGGCTGGGCGAG[A/C]AGATCCGGGTAGGTATGTGGGGTCT 83249879 NCBI Build 36.2 Human 15q2,15q25,15q25.3,15q25.3a,15q 15 .18 .15 .28 .25 Homo sapiens C__25972550_20 ABCC12 MRP9|MGC27071 A/G S898S MIM:607041 rs9925287 hCV25972550 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 TGCCAGTGGGAGTCGTGTCAAAGAA[A/G]CTCATTGGGCTCTTTAAGATCTGTG 46695760 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .21 0 0 Homo sapiens C__25972585_20 ABCC12 MRP9|MGC27071 A/T K894M MIM:607041 rs8057474 hCV25972585 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 CGTGTCAAAGAAACTCATTGGGCTC[A/T]TTAAGATCTGTGGAGAATGGTAGAG 46695773 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .07 0 0 Homo sapiens C__25972590_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM CYP19A1*3A,g.20538C>T|CYP19A1*3B,g.20538C>T A/G T201M|T201M MIM:107910 rs28757184 hCV25972590 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 GTCCAAAGGGATCCTCAAGAAGAGC[A/G]TGTTAGAGGTGTCCAGCATGACACG 49301864 NCBI Build 36.2 Human 15q21,15q2,15q21.2,15q21.2b,15q 15 .03 .06 0 0 Homo sapiens C__25972736_20 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860 UGT1A6*4b,c.627G>T|UGT1A6*4b,g.627G>T G/T | MIM:606431|PharmGKB:PA37181 rs17863783 hCV25972736 |Intron UDP glucuronosyltransferase 1 family, polypeptide A6 NM_001072|NM_205862 ACCACATGACTTTTTCCCAACGAGT[G/T]GCCAACTTCCTTGTTAATTTGTTGG 234267016 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 .01 .12 .01 .02 Homo sapiens C__25973247_20 ABCC12 MRP9|MGC27071 A/G D1223D MIM:607041 rs16945786 hCV25973247 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 TCTCCAGAACCTGCCAGAGCATCTC[A/G]TCGGTGTGACTCTCAAAGGGATCCA 46678198 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .21 0 0 Homo sapiens C__25973452_20 ABCC12 MRP9|MGC27071 A/T L1349F MIM:607041 rs12373105 hCV25973452 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 TGACTTCTGCTGCTAGTAACATCGC[A/T]AATGCAGAATCTGGCTTCTCTGCAA 46675160 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .01 .01 0 0 Homo sapiens C__25974204_20 UGT1A7 UDPGT|UGT1G C/G S141C MIM:606432|PharmGKB:PA37182 hCV25974204 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A7 NM_019077 TTAGTAGAATACTTAAAGGAGAGTT[C/G]TTTTGATGCAGTGTTTCTCGATCCT 234255744 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__25981571_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 C/T MIM:601107|PharmGKB:PA116 rs17216198 hCV25981571 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392 CAATCCTTATCTTTAGGCATTGACC[C/T]TATCCAACTTGGCCAGGAAGGAGTA 101553775 NCBI Build 36.2 Human 10q2,10q24,10q24.2,10q24.2c,10q 10 0 .02 0 0 Homo sapiens C__25981922_20 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 A/G Y177Y MIM:601699 hCV25981922 Silent Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 GCGCCTCAATTCCGTAAAGAGTCAG[A/G]TAGCCGGCTCTGGGGGCGGCAGACA 47589656 NCBI Build 36.2 Human 20q,20q13.13d,20q13.13,20q13.1,20q13,20q1 20 .04 .04 0 0 Homo sapiens C__25982477_10 ALDH4A1 P5CD|ALDH4|P5CDh|P5CDhL|P5CDhS|RP11-128M10.1 A/G I248I|I248I MIM:606811 hCV25982477 Silent Mutation|Silent Mutation aldehyde dehydrogenase 4 family, member A1 NM_003748|NM_170726 TGGGGGGCAGGCCAGCCTCCCGAAG[A/G]ATGCGGTAGACAGCATAGCTGGCCA 19080903 NCBI Build 36.2 Human 1p3,1p36,1p36.13,1p36.1,1p36.13b,1p 1 0 .07 0 0 Homo sapiens C__25985082_10 ALDH4A1 P5CD|ALDH4|P5CDh|P5CDhL|P5CDhS|RP11-128M10.1 C/T P362P|P362P MIM:606811 hCV25985082 Silent Mutation|Silent Mutation aldehyde dehydrogenase 4 family, member A1 NM_003748|NM_170726 CCTCCAGCAGCCGCCCTTTGATCTG[C/T]GGCCACAGCGAGTGCGGCACGTAGA 19076548 NCBI Build 36.2 Human 1p3,1p36,1p36.13,1p36.1,1p36.13b,1p 1 .03 0 0 0 Homo sapiens C__25985104_20 ALDH4A1 P5CD|ALDH4|P5CDh|P5CDhL|P5CDhS|RP11-128M10.1 C/T R366G|R366G MIM:606811 hCV25985104 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 4 family, member A1 NM_003748|NM_170726 CGACTGTGCTCCTCCAGCAGCCGCC[C/T]TTTGATCTGCGGCCACAGCGAGTGC 19076538 NCBI Build 36.2 Human 1p3,1p36,1p36.13,1p36.1,1p36.13b,1p 1 .02 0 .03 .01 Homo sapiens C__25986462_10 ABCC13 PRED6|C21orf73 A/T MIM:608835 hCV25986462 ATP-binding cassette, sub-family C (CFTR/MRP), member 13 TCCACCAGCACCCCGCCCCAGGCGC[A/T]CTGGCTAGGACTGGAAGGCAAGGAC 14568061 NCBI Build 36.2 Human 21q1,21q11,21q11.2,21q11.2c,21q 21 .07 0 0 0 Homo sapiens C__25986767_70 CYP2C19 CPCJ|CYP2C|CYP 2C|P450C2C|P450IIC19|RP11-400G3.4 CYP2C19*2A,c.681G>A|CYP2C19*2A,g.19154G>A|CYP2C19*2B,c.681G>A|CYP2C19*2B,g.19154G>A|CYP2C19*2C,c.681G>A|CYP2C19*2C,g.19154G>A A/G P227P MIM:124020|PharmGKB:PA124 rs4244285 hCV25986767 Silent Mutation cytochrome P450, family 2, subfamily C, polypeptide 19 NM_000769 TTCCCACTATCATTGATTATTTCCC[A/G]GGAACCCATAACAAATTACTTAAAA 96531606 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 .14 .1 .19 .32 Homo sapiens C__25959381_20 ABCC12 MRP9|MGC27071 A/G T1187I MIM:607041 rs34106426 hCV25959381 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 GGTTCTGAGGTCTTCCAAGCTGAGA[A/G]TGCAGATATCCACCTCATCAATAAA 46679413 NCBI Build 36.2 Human 16q,16q12.1a,16q12,16q12.1,16q1 16 0 .1 0 0 Homo sapiens C__25959735_20 SLC10A1 NTCP|NTCP1 A/G MIM:182396 hCV25959735 solute carrier family 10 (sodium/bile acid cotransporter family), member 1 NM_003049 AGTGGAAGACCACTCCTTGTTCTCC[A/G]GCTGACTCCGTTTCTTGTGCAGTTC 69333664 NCBI Build 36.2 Human 14q2,14q24,14q24.2,14q24.2a,14q 14 0 .06 0 0 Homo sapiens C__25961417_20 ABCC12 MRP9|MGC27071 A/T E690V MIM:607041 rs34135219 hCV25961417 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 CAGTTTTGCATAGCGCCCTCTCTCC[A/T]CCATTAACTCCTTGTGGGTTCCCTT 46703243 NCBI Build 36.2 Human 16q,16q12.1a,16q12,16q12.1,16q1 16 .01 .09 0 0 Homo sapiens C__25962116_20 SLC10A1 NTCP|NTCP1 A/G MIM:182396 hCV25962116 solute carrier family 10 (sodium/bile acid cotransporter family), member 1 NM_003049 TGGCAAACATGATGCTCTTCCCCAC[A/G]TTGATGGCAGAGAGAACTGTGACGG 69315771 NCBI Build 36.2 Human 14q2,14q24,14q24.2,14q24.2a,14q 14 0 .06 0 0 Homo sapiens C__25962364_30 ABCC12 MRP9|MGC27071 C/T *1024W MIM:607041 rs36102575 hCV25962364 Nonsense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 GAGGACATCCATTCTCAGCGCAAAC[C/T]ACCTGAGAGCACAGTTAAAGTAGAG 46688282 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .02 .01 0 0 Homo sapiens C__25963215_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G H62H|H62H MIM:107910 hCV25963215 Silent Mutation|Silent Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 CGATCCCCATCCACAGGAATCTGCC[A/G]TGGGAGATGAGGGGTCCAATTCCCA 49316458 NCBI Build 36.2 Human 15q21,15q2,15q21.2,15q21.2b,15q 15 0 .08 0 0 Homo sapiens C__25963394_20 ABCC12 MRP9|MGC27071 A/G F54F MIM:607041 hCV25963394 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 CCGGCGTGAGCCAGGAAAATGTGGC[A/G]AAGGAGAGTAGCCCGGCATCATCCA 46735435 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .09 0 0 Homo sapiens C__25963479_20 GPX3 GPx-P|GSHPx-3|GSHPx-P C/G L13L MIM:138321 rs8177413 hCV25963479 Silent Mutation glutathione peroxidase 3 (plasma) NM_002084 TGCAGGCGTCCTGCCTGCTTTCCCT[C/G]CTCCTGGCCGGCTTCGTCTCGCAGA 150380447 NCBI Build 36.2 Human 5q3,5q33,5q33.1,5q33.1d,5q 5 .01 .06 .11 .02 Homo sapiens C__25963987_20 UGT1A4 UDPGT|UGT1D|HUG-BR2 C/T S113S MIM:606429 rs28898610 hCV25963987 Silent Mutation UDP glucuronosyltransferase 1 family, polypeptide A4 NM_007120 ATCTTCTGAAGAGATATTCTAGAAG[C/T]ATGGCAATTATGAACAATGTATCTT 234292544 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 .01 0 0 Homo sapiens C__25964657_20 GPX5 A/G T47A|T47A MIM:603435 hCV25964657 Mis-sense Mutation|Mis-sense Mutation glutathione peroxidase 5 (epididymal androgen-related protein) NM_001509|NM_003996 CACCATCTATGACTATGAGGCCATC[A/G]CACTTAATAAGAATGAATATGTTTC 28605258 NCBI Build 36.2 Human 6p2,6p22,6p22.1,6p22.1b,6p 6 0 .02 0 0 Homo sapiens C__25964717_20 GPX3 GPx-P|GSHPx-3|GSHPx-P C/T MIM:138321 rs8177412 hCV25964717 UTR 5 glutathione peroxidase 3 (plasma) NM_002084 CGCCTAGCGATTGGCTGCAAGGGTC[C/T]CGGCTTGGCCGCGGATTGGTCACAC 150380280 NCBI Build 36.2 Human 5q,5q33.1d,5q33.1,5q33,5q3 5 .11 .18 .13 .17 Homo sapiens C__25964880_20 SLC28A1 CNT1|HCNT1 A/C R469R| MIM:606207|PharmGKB:PA387 rs8187779 hCV25964880 Silent Mutation| solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 NM_004213|NM_201651 TCAGCTCATCTGCTCCTACATCCTG[A/C]GGCCTGTAGCCTTCTTGATGGGTGT 83279577 NCBI Build 36.2 Human 15q2,15q25,15q25.3,15q25.3a,15q 15 0 .03 0 0 Homo sapiens C__25965593_20 ABCC12 MRP9|MGC27071 A/G R1117C MIM:607041 rs7193955 hCV25965593 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 TAGTCTCTGAAGGTGATCTCCCCAC[A/G]GCTGGGCCAGTCCTTGGGACAGGTC 46680083 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .21 .23 .06 .13 Homo sapiens C__30634213_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*7,c.167 G>A|CYP3A4*7,c.167G>A|CYP3A4*7,g.6004G>A C/T D56G MIM:124010|PharmGKB:PA130 hCV30634213 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 ACATTCCATGTCAAACATACAAAAG[C/T]CCTGGGAGGAGAAACAAAATAATAT 99213638 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30634215_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E T/A MIM:124040|PharmGKB:PA129 hCV30634215 Intron cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 CCACCACACCCAGCTGATTAAAAAT[T/A]TAAAAAAATTATTTTGGCTGGGCAC 135198533 NCBI Build 36.2 Human 10q2,10q26,10q26.3,10q26.3f,10q 10 0 0 0 0 Homo sapiens C__30634216_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E CYP2E1*3,g.10023G>A G/A I389V MIM:124040|PharmGKB:PA129 hCV30634216 Mis-sense Mutation cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 TCTTTGTTTCTCCTAGGGCACAGTC[G/A]TAGTGCCAACTCTGGACTCTGTTTT 135201254 NCBI Build 36.2 Human 10q2,10q26,10q26.3,10q26.3f,10q 10 0 0 0 0 Homo sapiens C__30634229_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6,g.2026C>T A/G MIM:122720|PharmGKB:PA121 rs28399443 hCV30634229 Intron cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 GCGCCTGCGGGTATGGCGGGAGAAG[A/G]GGGTTGGGGAGAGAGTCAACTCAGA 46046146 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .03 0 0 0 Homo sapiens C__30634232_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6,g.1777G>T/C C/G MIM:122720|PharmGKB:PA121 rs2545783 hCV30634232 cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 CGGAGGGCGTCGATGAGGAAGCCCG[C/G]CTCCTCCTGGATGCGCTCCTCGATG 46046395 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 0 0 0 0 Homo sapiens C__30634234_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6*14,c.86G>A|CYP2A6*14,g.86G>A C/T N29S MIM:122720|PharmGKB:PA121 rs28399435 hCV30634234 Mis-sense Mutation cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 GGGTCCCGGAGGCAGCTTCCCCTTG[C/T]TCTTCCTCTGCTGCCAAACAGACAT 46048086 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .06 0 0 0 Homo sapiens C__30634236_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*13A,c.415A>G|CYP2B6*13A,g.13072A>G|CYP2B6*13B,c.415A>G|CYP2B6*13B,g.13072A>G|CYP2B6*8,c.415A>G|CYP2B6*8,g.13072A>G A/G K139E MIM:123930|PharmGKB:PA123 rs12721655 hCV30634236 Mis-sense Mutation cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 CACTATGAGGGACTTCGGGATGGGA[A/G]AGCGGAGTGTGGAGGAGCGGATTCA 46202122 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 0 0 0 0 Homo sapiens C__30634201_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4,g.23130T>C A/G T431I MIM:124010|PharmGKB:PA130 rs1041988 hCV30634201 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 GGGTCCACTTCCAAAGGGTGTGTAT[A/G]TGTAAGGATCTATGTTGTCCTTGTT 99196502 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30634202_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*12,c.1117 C>T|CYP3A4*12,c.1117C>T|CYP3A4*12,g.21896C>T A/G L373F MIM:124010|PharmGKB:PA130 rs12721629 hCV30634202 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 ACATCTTTTTTGCAGACCCTCTCAA[A/G]TCTCATAGCAATTGGGAATAATCTG 99197736 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30634203_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*11,c.1088 C>T|CYP3A4*11,c.1088C>T|CYP3A4*11,g.21867C>T A/G T363M MIM:124010|PharmGKB:PA130 hCV30634203 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 CATAGCAATTGGGAATAATCTGAGC[A/G]TTTCATTCACCACCATGTCAAGATA 99197765 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30634205_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*5,c.653 C>G|CYP3A4*5,c.653C>G|CYP3A4*5,g.15702C>G C/G P218R MIM:124010|PharmGKB:PA130 hCV30634205 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 CCACATACTTATTGAGAGAAAGAAT[C/G]GATCCAAAAAATCAAATCTTAAAAG 99203930 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30634207_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*16A,c.554C>G|CYP3A4*16A,g.15603C>G|CYP3A4*16B,c.554C>G|CYP3A4*16B,g.15603C>G C/G T185S MIM:124010|PharmGKB:PA130 rs12721627 hCV30634207 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 GATGTTCACTCCAAATGATGTGCTA[C/G]TGATCACATCCATGCTGTAGGCCCC 99204029 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 .01 0 Homo sapiens C__30634209_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*9,c.508 G>A|CYP3A4*9,c.508G>A|CYP3A4*9,g.14292G>A C/T I170V MIM:124010|PharmGKB:PA130 hCV30634209 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 GCTTCTACTTACTCTTTCAAGGTGA[C/T]AGGCTTGCCTGTCTCTGCTTCCCGC 99205340 NCBI Build 36.2 Human 7q,7q22.1b,7q22.1,7q22,7q2 7 0 0 0 0 Homo sapiens C__30634211_30 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*4,c.352 A>G|CYP3A4*4,c.352A>G|CYP3A4*4,g.13871A>G C/T I118V MIM:124010|PharmGKB:PA130 hCV30634211 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 CATTCTTCATCCTCAGCTATAGAGA[C/T]GGCACTTTTCATAAATCCCACTGGA 99205761 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C____773142_20 SLC7A7 LPI|LAT3|Y+LAT1|y+LAT-1 A/G R473* MIM:603593|PharmGKB:PA35925 hCV773142 Nonsense Mutation solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 NM_003982 ATGCACGGCTTACCCACGATCCTTC[A/G]GAGGTAAAGCGGTCGCTTATGTTCT 22312994 NCBI Build 36.2 Human 14q,14q11.2e,14q11.2,14q1,14q11 14 0 0 0 0 Homo sapiens C____786091_10 TYMS TS|TMS|TSase|HsT422|MGC88736 T/G G157V MIM:188350|PharmGKB:PA359 rs596909 hCV786091 Mis-sense Mutation thymidylate synthetase NM_001071 AATTCTACAGATTATTCAGGACAGG[T/G]AGTTGACCAACTGCAAAGAGTGATT 659087 NCBI Build 36.2 Human 18p,18p11.32,18p11,18p11.32c,18p11.3,18p1 18 0 0 0 0 Homo sapiens C____894448_20 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 A/G R1057* MIM:603201|PharmGKB:PA374 hCV894448 Nonsense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 TTGTATACACTGATTGGGGGTTGTC[A/G]GTCCAGCAGTTGAAAAAAGCGTGCA 169497177 NCBI Build 36.2 Human 2q,2q24.3f,2q24.3,2q24,2q2 2 0 0 0 0 Homo sapiens C____894855_20 CYP3A43 MGC119315|MGC119316 CYP3A43*2B,g.31867C>G|CYP3A43*3,g.31867C>G C/G P340A|P340A|P340A MIM:606534 rs680055 hCV894855 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 43 NM_022820|NM_057095|NM_057096 GCAGGAGGAGATTGACGCAGTTTTA[C/G]CCAATAAGGTAAGGGGATGATCCCC 99295541 NCBI Build 36.2 Human 7q,7q22.1b,7q22.1,7q22,7q2 7 .07 .32 0 0 Homo sapiens C____938282_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T K1173E|K966E MIM:606882 hCV938282 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 AGGATGGCTGTCTGTCCTTTCATCT[C/T]GTGGTCTGTCATAGCGTCACTGACA 51413257 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 0 0 0 0 Homo sapiens C____938273_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/T D1106V|D899V MIM:606882 hCV938273 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GGCCAGGATGCCTTCCACGTTGCTG[A/T]CTTTGCACCCAATTCCACAGCCTGG 51414618 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 0 0 0 0 Homo sapiens C___8851954_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/G MIM:600409 rs1053046 hCV8851954 UTR 3 peroxisome proliferator-activated receptor delta NM_006238 GTCCTCCCTCCCAAGGAGCCATTCT[A/G]TGTGTGACTCTGGGTGGAAGTGCCC 35503556 NCBI Build 36.2 Human 6p,6p21.31c,6p21.31,6p21,6p21.3,6p2 6 .04 .45 0 .03 Homo sapiens C___8908998_10 NNMT A/C K36Q MIM:600008|PharmGKB:PA251 rs1802606 hCV8908998 Mis-sense Mutation nicotinamide N-methyltransferase NM_006169 TGGTTCTAGGCACTCTGCAGAAAGC[A/C]AGATTCTTAAGCACCTTCTGAAAAA 113672594 NCBI Build 36.2 Human 11q,11q23.2b,11q23.2,11q23,11q2 11 0 0 0 0 Homo sapiens C___8910325_20 GSTA4 GTA4|GSTA4-4|DKFZp686D21185|RP1-214M20.1 C/T Q117Q MIM:605450 rs1802061 hCV8910325 Silent Mutation glutathione S-transferase A4 NM_001512 GGGCCATGTTAACCACTTCCTTTTG[C/T]TGATCATCTGGTTTTAAGAAAGGAT 52957284 NCBI Build 36.2 Human 6p,6p12.1,6p12.1d,6p1,6p12 6 .07 0 0 0 Homo sapiens C___8926538_20 GSTO1 P28|GSTTLp28|DKFZp686H13163 C/T L241L MIM:605482 rs1045505 hCV8926538 Silent Mutation glutathione S-transferase omega 1 NM_004832 GCCCTGAGGCCTGTGACTATGGGCT[C/T]TGAAGGGGGCAGGAGTCAGCAATAA 106017150 NCBI Build 36.2 Human 10q,10q25.1a,10q25.1,10q25,10q2 10 0 0 0 0 Homo sapiens C___8934008_80 ADH7 ADH-4 G/T V149V MIM:600086 rs1042111 hCV8934008 Silent Mutation alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide NM_000673 ATGTACTGGTGTTCATGAAGTGGTG[G/T]ACTGGTTTGCCCTTGCATGTAAATC 100568106 NCBI Build 36.2 Human 4q,4q23b,4q23,4q2 4 0 0 0 0 Homo sapiens C___8934009_30 ADH7 ADH-4 C/G A92G MIM:600086 rs1573496 hCV8934009 Mis-sense Mutation alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide NM_000673 TATACCTGGTTTCACTGTAGTCACT[C/G]CTTCTCCAATGCTCTCTACAATCCC 100568692 NCBI Build 36.2 Human 4q,4q23b,4q23,4q2 4 .13 0 0 0 Homo sapiens C___8934057_30 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T |||| MIM:158343|PharmGKB:PA244 rs3743527 hCV8934057 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 GGGCCTGGAGAAAATCATTTTCTCC[C/T]CTTGGCAGTGTCCCAGGGCCCTGGA 16143182 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 .17 .15 .41 .48 Homo sapiens C___8941193_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 rs1048098 hCV8941193 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 GAGAAGCCGATGGCGTGGTCCAAGA[A/G]CTTGACAAACTTGATGGTCTTGGTG 17441671 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C___8941194_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G MIM:600509|PharmGKB:PA24395 rs1048096 hCV8941194 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 AGCAGCCCTGTGAGGCAGAAGCGTA[C/G]CTGCGAGAAGCCGATGGCGTGGTCC 17441641 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C___8941199_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 rs1048095 hCV8941199 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 CATCCACCAGTAGGTGCCTTTGGAC[A/G]GCAGATTCACGAAGGGCTGCAGGAA 17439854 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C___8941200_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 G/A MIM:600509|PharmGKB:PA24395 rs1048094 hCV8941200 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TTGGTAGTTGGTGAGGGCCCTCATG[G/A]CGATGGGCAGCTTCCCGATGGCTCG 17439761 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C___8941201_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 G/A MIM:600509|PharmGKB:PA24395 rs1048093 hCV8941201 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 GTTGGTAGTTGGTGAGGGCCCTCAT[G/A]GCGATGGGCAGCTTCCCGATGGCTC 17439760 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C___8952817_20 PON2 C/G C311S|S299C MIM:602447|PharmGKB:PA33530 rs7493 hCV8952817 Mis-sense Mutation|Mis-sense Mutation paraoxonase 2 NM_000305|NM_001018161 AACTGTAGTCACTGTAGGCTTCTCA[C/G]ATAGAATGTTCTGGATGCGGAGAAC 94872711 NCBI Build 36.2 Human 7q,7q21.3b,7q21.3,7q21,7q2 7 .13 .23 .26 .21 Homo sapiens C___9071393_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 rs1799857 hCV9071393 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 AGTCGGCCTCTTTGAAGAAGCTGAC[A/G]TGGCCCACGAAAGTCTGTGGACAGA 17409068 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 .43 .44 .3 .32 Homo sapiens C___9152783_20 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/T || MIM:603065|PharmGKB:PA378 rs1523130 hCV9152783 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 AATCCAGTATTTCACTTACTCTTTT[C/T]CTTTCCAATATCCTCATGACATTCA 120982197 NCBI Build 36.2 Human 3q,3q13.33,3q13.33a,3q13.3,3q13,3q1 3 .37 .19 .29 .09 Homo sapiens C___9182882_10 ARS2 ARS2|ASR2|MGC126427 A/G P75P| rs11983638 hCV9182882 Silent Mutation|UTR 5 ARS2 protein NM_015908|NM_182800 CGCCACCTCGCCACGAACTCAGCCC[A/G]CCACAGAAGCGCATGAGGAGAGACT 100316944 NCBI Build 36.2 Human 7q,7q22.1c,7q22.1,7q22,7q2 7 0 .03 0 0 Homo sapiens C___9440184_20 UGT2B15 UGT2B8 G/T MIM:600069|PharmGKB:PA37188 rs4148269 hCV9440184 UDP glucuronosyltransferase 2 family, polypeptide B15 NM_001076 CTAATCTCTTTTCTTCTTCTTTCCT[G/T]TTTTGGCAAGCTTTCGGAAACAAAA 69547466 NCBI Build 36.2 Human 4q,4q13.2c,4q13.2,4q13,4q1 4 .37 .27 .17 .24 Homo sapiens C___9491497_10 DPYD DHP|DPD|MGC70799|MGC132008 A/G MIM:274270|PharmGKB:PA145 rs1801265 hCV9491497 dihydropyrimidine dehydrogenase NM_000110 TCTAATTTCTTGGCCGAAGTGGAAC[A/G]CAGAGTTGCATGAGTTTGTGTTCGA 98121473 NCBI Build 36.2 Human 1p,1p21.3b,1p21.3,1p21,1p2 1 .21 .34 .03 .14 Homo sapiens C___9520102_30 SLC19A1 CHMD|FOLT|IFC1|REFC|RFC1 C/G P82P MIM:600424|PharmGKB:PA327 rs1051269 hCV9520102 Silent Mutation solute carrier family 19 (folate transporter), member 1 NM_194255 GCAGGTAGTCGGTGAGCAGGAACAC[C/G]GGCACCAGCACGGCCAGGTAGGAGT 45776434 NCBI Build 36.2 Human 21q,21q22.3e,21q22.3,21q22,21q2 21 .02 .01 .01 0 Homo sapiens C____598868_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*24,c.1016G>A|CYP21A2*24,g.2058G>A A/G H340R MIM:201910 hCV598868 Mis-sense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 AGCTCCCGGGTCCCCTACAAGGACC[A/G]TGCACGGCTGCCCTTGCTCAATGCC 32116241 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C____598880_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*21,c.631G>C|CYP21A2*21,g.1203G>C A/G MIM:201910 hCV598880 cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 CCACTGGTCCATCCAAATTGTGGAC[A/G]TGATTCCCTTTCTCAGGGTGAGGAC 32115386 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 .08 .09 0 0 Homo sapiens C____600632_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/C MIM:600509|PharmGKB:PA24395 rs757110 hCV600632 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 CGTGCTCTGACCTTCTGTCCAGGGG[A/C]GATGAGGGCATTGACGTGCTTCAGC 17375053 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 .32 .09 .35 .27 Homo sapiens C____600644_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 rs28938469 hCV600644 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 GGGTCCTGCAGGATGATGGAGAGGC[A/G]TGAGCGCAGGGTGTGCAGCGGCAGT 17373782 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C____600648_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G MIM:600509|PharmGKB:PA24395 rs28936370 hCV600648 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 CACCGGCTTCAGGGAGCTGTCGTAG[C/G]GCACGCTCAGGTTCTGGATCTGGAT 17375103 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C____600653_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/C MIM:600509|PharmGKB:PA24395 hCV600653 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TAGAAGGAGCGAGGACTTGCCGCAG[A/C]CCACCTGCCCCACGATCATAGTCAG 17405247 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C____600654_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G MIM:600509|PharmGKB:PA24395 hCV600654 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TAGATCGGACCACACTGGACAGCAG[C/G]AACAGCGGTGTGACCAAGATATGGA 17408981 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C____600655_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T MIM:600509|PharmGKB:PA24395 hCV600655 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 GCAGTCATTTCTCCCATGGACAGGT[C/T]GGAGGTGGACAGGTGCATAATTTTA 17426755 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C____600658_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G MIM:600509|PharmGKB:PA24395 hCV600658 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TGGGGAAGTTGGAAGTCTCGATGTT[C/G]TGATAGTAGACCACGGAGGTGACAG 17448261 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 .01 0 0 0 Homo sapiens C____600659_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T MIM:600509|PharmGKB:PA24395 hCV600659 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 GAGCAGCATGAAGGTCAGGATCCAC[C/T]GCAGGTTGTGCCCAGGGAAATGAAG 17453078 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C____714912_30 ADH7 ADH-4 C/T H132R MIM:600086 rs284797 hCV714912 Mis-sense Mutation alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide NM_000673 GGTGGTGCCATCAGCCAGTACTCCA[C/T]GACCAGTAATACTGTTTGATACATC 100568158 NCBI Build 36.2 Human 4q,4q23b,4q23,4q2 4 .01 0 0 0 Homo sapiens C____773137_20 SLC7A7 LPI|LAT3|Y+LAT1|y+LAT-1 C/T *242W MIM:603593|PharmGKB:PA35925 hCV773137 Nonsense Mutation solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 NM_003982 CTTCAGTGACATAGTTGAGGGTGTC[C/T]CAGCCTGAGTAGGAGAACAGAGCTG 22317886 NCBI Build 36.2 Human 14q,14q11.2f,14q11.2,14q1,14q11 14 0 0 0 0 Homo sapiens C____773138_20 SLC7A7 LPI|LAT3|Y+LAT1|y+LAT-1 A/C R334L MIM:603593|PharmGKB:PA35925 hCV773138 Mis-sense Mutation solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 NM_003982 GCCTTCTCTTGAGCCCACAAAGAAA[A/C]GCCTATGTTAGGTAAGATAGGAGAA 22314587 NCBI Build 36.2 Human 14q,14q11.2f,14q11.2,14q1,14q11 14 0 0 0 0 Homo sapiens C___8759263_30 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 A/G |C594C MIM:605251 rs939336 hCV8759263 |Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 5 NM_001023587|NM_005688 AGGTTTTTCCACTTCCCACACTGCC[A/G]CAGATTCCAACCAGTTTACCCTGGA 185168228 NCBI Build 36.2 Human 3q,3q27.1b,3q27.1,3q27,3q2 3 .44 .23 .18 .11 Homo sapiens C___8759275_30 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 A/G |S400S MIM:605251 rs1053386 hCV8759275 |Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 5 NM_001023587|NM_005688 CAATGGGAGCCACACCCACAGTGAT[A/G]CTCTGGAAGTACCCAGCTTTTTCCA 185179081 NCBI Build 36.2 Human 3q,3q27.1b,3q27.1,3q27,3q2 3 0 .2 0 0 Homo sapiens C___8760913_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G || MIM:603065|PharmGKB:PA378 rs1523129 hCV8760913 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 TGTCCAGTGGGATTTGTAATCCAAT[A/G]CCTCCTAGCCCTAGCAGAATCCCAT 120982298 NCBI Build 36.2 Human 3q,3q13.33,3q13.33a,3q13.3,3q13,3q1 3 0 .31 0 0 Homo sapiens C___8760925_30 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G || MIM:603065|PharmGKB:PA378 rs1063955 hCV8760925 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 GAGACCCAAAGAAAGCTGGAACCAT[A/G]CTGACTTTGTACACTGTGAGGACAC 121008821 NCBI Build 36.2 Human 3q,3q13.33,3q13.33a,3q13.3,3q13,3q1 3 0 0 0 0 Homo sapiens C___8761912_30 CYP20A1 CYP-M|MGC22229 C/T rs1048013 hCV8761912 cytochrome P450, family 20, subfamily A, polypeptide 1 NM_177538 CAAACTGACTCCAGTTTCTGCCCAG[C/T]TTCAAGATATTGAAGGAAAAATTGA 203862797 NCBI Build 36.2 Human 2q,2q33.2a,2q33.2,2q33,2q3 2 .37 .19 .24 .37 Homo sapiens C___8786528_10 ARS2 ARS2|ASR2|MGC126427 C/T D857D|D777D rs11171 hCV8786528 Silent Mutation|Silent Mutation ARS2 protein NM_015908|NM_182800 CACCTCACAGGATGGTTCGTGGAGA[C/T]CCAAGGGCCATTGTGGAATATCGGG 100324046 NCBI Build 36.2 Human 7q,7q22.1c,7q22.1,7q22,7q2 7 .09 .22 0 0 Homo sapiens C___8786536_10 ARS2 ARS2|ASR2|MGC126427 C/T L265L|L186L rs15624 hCV8786536 Silent Mutation|Silent Mutation ARS2 protein NM_015908|NM_182800 TGGAAGGAGGCACGGAGAATGATCT[C/T]CGCATCCTGGAGCAGGAGGAGGAGG 100319962 NCBI Build 36.2 Human 7q,7q22.1c,7q22.1,7q22,7q2 7 .47 .47 .12 .2 Homo sapiens C___8794632_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G R435C|R435C MIM:107910 hCV8794632 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 GCGATGTACTTTCCTGCACAGCCAC[A/G]GGGCCCAAAGCCAAATGGCTGAAAG 49290506 NCBI Build 36.2 Human 15q,15q21.2b,15q21.2,15q2,15q21 15 0 0 0 0 Homo sapiens C___8794665_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G | MIM:107910 rs1050760 hCV8794665 UTR 3|UTR 3 cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 TTTGTATTACTTGATGATTATATAT[A/G]GTTTGTATTACCTGAATCTACAGGT 49289590 NCBI Build 36.2 Human 15q,15q21.2b,15q21.2,15q2,15q21 15 0 0 0 0 Homo sapiens C___8794666_10 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM G/T | MIM:107910 rs1050677 hCV8794666 UTR 3|UTR 3 cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 CCCATAGGAGGTATGCCTATAAAAT[G/T]CCATGGGCCACTGAGTGTTCACTGT 49290185 NCBI Build 36.2 Human 15q,15q21.2b,15q21.2,15q2,15q21 15 0 0 0 0 Homo sapiens C___8794674_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/T K108*|K108* MIM:107910 rs1803154 hCV8794674 Nonsense Mutation|Nonsense Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 AATCGAGAGCTGTAATGATTGTGCT[A/T]CATTATGTGGAACATACTTGAGGAC 49307397 NCBI Build 36.2 Human 15q,15q21.2b,15q21.2,15q2,15q21 15 0 0 0 0 Homo sapiens C___8794680_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM C/G | MIM:107910 rs1062033 hCV8794680 Intron|Intron cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 ATCAGCAGGTGGGGCAGGCGGGGAA[C/G]TCAGGGAGCTTTTCCACATGCTAGG 49335230 NCBI Build 36.2 Human 15q,15q21.2b,15q21.2,15q2,15q21 15 .49 .15 .34 .35 Homo sapiens C___8813563_30 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T K1186E MIM:603201|PharmGKB:PA374 rs1521808 hCV8813563 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 TGTTTTGCAGCTGCTATGACTCTTT[C/T]CATGGGAATTTCTTTGGTGTTGTCT 169491974 NCBI Build 36.2 Human 2q,2q24.3f,2q24.3,2q24,2q2 2 0 .06 0 0 Homo sapiens C___8813572_30 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T A1028A MIM:603201|PharmGKB:PA374 rs497692 hCV8813572 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 AAGAGAAGGCTCTTCCAAGAGCTGT[C/T]GCACTCAGTACAACTGCAGAGATCA 169497262 NCBI Build 36.2 Human 2q,2q24.3f,2q24.3,2q24,2q2 2 .44 .3 .5 .28 Homo sapiens C___8814556_30 SULT4A1 NST|BRSTL1|SULTX3|BR-STL-1|MGC40032|DJ388M5.3|hBR-STL-1 A/C MIM:608359|PharmGKB:PA412 rs138056 hCV8814556 UTR 3 sulfotransferase family 4A, member 1 NM_014351 CGGAGACCCCTTCCACAGCAGCGAC[A/C]CTCCTGACCACCACTTTGGGTGCTT 42552006 NCBI Build 36.2 Human 22q,22q13.2c,22q13.2,22q13,22q1 22 .2 .28 .02 .1 Homo sapiens C___8817669_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 A/G Q127R|Q127R MIM:170998|PharmGKB:PA280 rs1800204 hCV8817669 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 GTATTACCCTCACAGGGCTTCTTTC[A/G]GCGAACGATTCGACTCAAGCTGGTG 44992834 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 0 0 0 Homo sapiens C___8817670_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/G L162V|L162V MIM:170998|PharmGKB:PA280 rs1800206 hCV8817670 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 CCAGTATTGTCGATTTCACAAGTGC[C/G]TTTCTGTCGGGATGTCACACAACGG 44992938 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 .03 0 0 0 Homo sapiens C___8817682_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/T A227V|A227V MIM:170998|PharmGKB:PA280 rs1800234 hCV8817682 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 AACATGAACAAGGTCAAAGCCCGGG[C/T]CATCCTCTCAGGAAAGGCCAGTAAC 44994544 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 0 .05 .02 Homo sapiens C___8817683_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/T N235N|N235N MIM:170998|PharmGKB:PA280 rs1800235 hCV8817683 Silent Mutation|Silent Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 TCATCCTCTCAGGAAAGGCCAGTAA[C/T]AATCCAGTAGGTGTTTGCGGCTGTT 44994569 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 .06 0 0 Homo sapiens C___8817692_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/G L254L|L254L MIM:170998|PharmGKB:PA280 rs1800236 hCV8817692 Silent Mutation|Silent Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 CACTGTGTATGGCTGAGAAGACGCT[C/G]GTGGCCAAGCTGGTGGCCAATGGCA 45006403 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 0 0 0 Homo sapiens C___8817693_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/T A268V|A268V MIM:170998|PharmGKB:PA280 rs1042311 hCV8817693 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 GCCAATGGCATCCAGAACAAGGAGG[C/T]GGAGGTCCGCATCTTTCACTGCTGC 45006444 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 0 0 0 Homo sapiens C___8817694_10 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 A/G N304D|N304D MIM:170998|PharmGKB:PA280 rs1800242 hCV8817694 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 AGGCTTCGCAAACTTGGACCTGAAC[A/G]ATCAAGTGACATTGCTAAAATACGG 45006551 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 0 0 0 Homo sapiens C___8817704_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/G T409R|T409R MIM:170998|PharmGKB:PA280 rs1800243 hCV8817704 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 CAGGAGGGTATTGTACATGTGCTCA[C/G]ACTCCACCTGCAGAGCAACCACCCG 45009760 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 0 0 0 Homo sapiens C___8826940_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CDw338|EST157481|MGC102821 A/G S208F MIM:603756|PharmGKB:PA390 rs1061018 hCV8826940 Mis-sense Mutation ATP-binding cassette, sub-family G (WHITE), member 2 NM_004827 TAAGCCAGTTGTAGGCTCATCCAAG[A/G]ACAAGATGGAAGGATCAGTGATAAG 89261877 NCBI Build 36.2 Human 4q,4q22.1b,4q22.1,4q22,4q2 4 0 0 0 0 Homo sapiens C___8826957_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CDw338|EST157481|MGC102821 A/T MIM:603756|PharmGKB:PA390 rs1138276 hCV8826957 UTR 3 ATP-binding cassette, sub-family G (WHITE), member 2 NM_004827 AGTATAGCATTAATACATTTGTCAT[A/T]TATTAAATAATGGCAAACCATAGCA 89232003 NCBI Build 36.2 Human 4q,4q22.1b,4q22.1,4q22,4q2 4 0 0 0 0 Homo sapiens C___8829281_20 ADH4 ADH-2 G/T MIM:103740 rs1800759 hCV8829281 alcohol dehydrogenase 4 (class II), pi polypeptide NM_000670 CATGTTGCTTAATTCTCCAATCACT[G/T]CCTTTTCTCCTTTGTTGCTGTAATT 100284532 NCBI Build 36.2 Human 4q,4q23b,4q23,4q2 4 .47 .21 .22 .06 Homo sapiens C___8829489_20 ADH1B ADH2 A/C A222A MIM:103720|PharmGKB:PA24571 rs2018417 hCV8829489 Silent Mutation alcohol dehydrogenase IB (class I), beta polypeptide NM_000668 CAAATTTGTCCTTGTTGATGTCCAC[A/C]GCAATGATTCTGGCTGCTCCAGCTG 100454163 NCBI Build 36.2 Human 4q,4q23b,4q23,4q2 4 .02 .06 0 0 Homo sapiens C___8833021_30 SULT2B1 HSST2 C/T A95A|A110A MIM:604125|PharmGKB:PA36249 rs1052124 hCV8833021 Silent Mutation|Silent Mutation sulfotransferase family, cytosolic, 2B, member 1 NM_004605|NM_177973 CCTGGTGTGAGACCATTGTGGGTGC[C/T]TTCAGCCTCCCGGACCAGTACAGCC 53782413 NCBI Build 36.2 Human 19q,19q13.32c,19q13.32,19q13.3,19q13,19q1 19 0 0 0 0 Homo sapiens C___8840875_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 G/T MIM:605452 rs1109867 hCV8840875 UTR 5 ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 CACTGCGGGACCGGAGGCCGGGACT[G/T]GTCACTCGGAGAGGGGCGCGGACAT 219791697 NCBI Build 36.2 Human 2q,2q35f,2q35,2q3 2 .11 .49 .23 .1 Homo sapiens C___8840876_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 C/T L39L MIM:605452 rs1109866 hCV8840876 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 GAGCCAGCACCAAGGCCAGAGTCCC[C/T]AGAGCCATCCGCGTCGAGGGCACGA 219791523 NCBI Build 36.2 Human 2q,2q35f,2q35,2q3 2 .11 .5 .22 .1 Homo sapiens C___8841156_30 CYP27A1 CTX|CP27|CYP27 A/C G122G MIM:606530 rs1051087 hCV8841156 Silent Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 TGGAGCAAGTGATGCGGCAAGAGGG[A/C]AAGTACCCAGTACGGAACGACATGG 219382654 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 0 0 0 Homo sapiens C___8847900_30 GSTM3 GST5|GSTB|GTM3|GSTM3-3|MGC3310|MGC3704 A/C MIM:138390 rs1803688 hCV8847900 UTR 3 glutathione S-transferase M3 (brain) NM_000849 CTGACCCCTTACGGACAGGATGAAA[A/C]AAAACAAGCTCTGCAAGTCTGCCTC 110081186 NCBI Build 36.2 Human 1p,1p13.3b,1p13.3,1p1,1p13 1 0 0 0 0 Homo sapiens C___8848952_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAQB-69D7.2 C/T D573G|D573G MIM:170261 rs1800573 hCV8848952 Mis-sense Mutation|Mis-sense Mutation transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) NM_000544|NM_018833 CTGGGCAGCCGCCATCACCTTATCA[C/T]CTTCGCAGCTCTGCAGCCCATAAGC 32905762 NCBI Build 36.2 Human 6p,6p21.32a,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C___8848953_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAQB-69D7.2 C/T V554V|V554V MIM:170261 rs1801283 hCV8848953 Silent Mutation|Silent Mutation transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) NM_000544|NM_018833 TGTTCCTCACAGAACCGGAGAACAG[C/T]ACAGGCTCCTGCCCAACTGAAACCA 32905818 NCBI Build 36.2 Human 6p,6p21.32a,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C___8848961_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAQB-69D7.2 C/T I379V|I379V MIM:170261 rs1800454 hCV8848961 Mis-sense Mutation|Mis-sense Mutation transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) NM_000544|NM_018833 CCACTCTGGTATCTTACCCTCCTTA[C/T]GAGCAGGTACAAGGCGCGTTCCAGG 32908390 NCBI Build 36.2 Human 6p,6p21.32a,6p21.32,6p21,6p21.3,6p2 6 .19 .14 .16 .27 Homo sapiens C___8850814_20 GSTM2 GST4|GSTM|GTHMUS|GSTM2-2|MGC117303 C/G R187G MIM:138380|PharmGKB:PA29023 hCV8850814 Mis-sense Mutation glutathione S-transferase M2 (muscle) NM_000848 CCCAAACCTGAAGGACTTCATCTCC[C/G]GATTTGAGGTGATGCCCCCAGCCTC 110015720 NCBI Build 36.2 Human 1p,1p13.3b,1p13.3,1p1,1p13 1 0 0 0 0 Homo sapiens C___8851772_50 UGT2B4 UGT2B11 G/T MIM:600067 rs1051752 hCV8851772 UDP glucuronosyltransferase 2 family, polypeptide B4 NM_021139 GACATGTAGTTAAGCTTAGTAAATT[G/T]TTTTTCATGTAACCTGTGAATTGGA 70380646 NCBI Build 36.2 Human 4q,4q13.2c,4q13.2,4q13,4q1 4 0 .08 0 0 Homo sapiens C___8851830_30 UGT2A1 C/T MIM:604716 rs1347046 hCV8851830 UDP glucuronosyltransferase 2 family, polypeptide A1 NM_006798 TATTCTTTCTTTGCCAAAGGGCACC[C/T]TATATATTTCAAATGTCAGAGATGG 70547728 NCBI Build 36.2 Human 4q,4q13.3,4q13.3a,4q13,4q1 4 0 0 0 0 Homo sapiens C___8851952_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta C/T MIM:600409 rs2016520 hCV8851952 UTR 5 peroxisome proliferator-activated receptor delta NM_006238 CCTCTGCCCAGGCTGATGGGAACCA[C/T]CCTGTAGAGGTCCATCTGCGTTCAG 35486756 NCBI Build 36.2 Human 6p,6p21.31c,6p21.31,6p21,6p21.3,6p2 6 .21 .31 .17 .31 Homo sapiens C___8851953_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta G/T MIM:600409 rs1053041 hCV8851953 UTR 3 peroxisome proliferator-activated receptor delta NM_006238 CCTGGTGGGTCAGCCCAGCACCTGC[G/T]CCCAGTGGGAGCTTCCCGGGATAAA 35503170 NCBI Build 36.2 Human 6p,6p21.31c,6p21.31,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C___2307598_20 UGT1A1 GNT1|UGT1|UDPGT|UGT1A|HUG-BR1 UGT1A1*27,c.686C>A|UGT1A1*27,g.686C>A A/C Q229P MIM:191740|PharmGKB:PA420 rs35350960 hCV2307598 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463 TTTCTGTGCGACGTGGTTTATTCCC[A/C]GTATGCAACCCTTGCCTCAGAATTC 234334358 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 .03 Homo sapiens C___2333304_30 CYP2S1 CYP2S1*1C,g.1324C>G|CYP2S1*1D,g.1324C>G C/G P74P rs338599 hCV2333304 Silent Mutation cytochrome P450, family 2, subfamily S, polypeptide 1 NM_030622 CGGTGTTCACCATCTACCTGGGACC[C/G]TGGCGGCCTGTGGTGGTCCTGGTTG 46392333 NCBI Build 36.2 Human 19q,19q13.2c,19q13.2,19q13,19q1 19 .07 .09 .28 .23 Homo sapiens C___2489281_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/G MIM:600409 rs2038068 hCV2489281 Intron peroxisome proliferator-activated receptor delta NM_006238 TGGGAACTAGAGACCCTGGTCCCAA[A/G]TTCAGAACTCTAGCCAGAGTCCAGA 35482439 NCBI Build 36.2 Human 6p,6p21.31c,6p21.31,6p21,6p21.3,6p2 6 .27 .43 .2 .31 Homo sapiens C___2489298_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta C/T MIM:600409 rs6901410 hCV2489298 Intron peroxisome proliferator-activated receptor delta NM_006238 GGTGTCTGCTTGTCCTCCGACCTCC[C/T]CTCCCATTTGTGGGAAAGGCATTTG 35438008 NCBI Build 36.2 Human 6p,6p21.31c,6p21.31,6p21,6p21.3,6p2 6 .07 .33 .01 .02 Homo sapiens C___2491865_20 GPX6 A/C L13F MIM:607913 rs406113 hCV2491865 Mis-sense Mutation glutathione peroxidase 6 (olfactory) NM_182701 TCTGCTGAGCAAAGCCAACCAGGAA[A/C]AACAGGACAAGACAGGAGGCCTGGA 28591461 NCBI Build 36.2 Human 6p,6p22.1b,6p22.1,6p22,6p2 6 .32 .33 .48 .48 Homo sapiens C___2520627_40 FMO1 C/T T249T MIM:136130 rs742350 hCV2520627 Silent Mutation flavin containing monooxygenase 1 NM_002021 ACATGTTGAGAAATTCCCTCCCAAC[C/T]CCAATTGTGACTTGGTTGATGGAGC 169516668 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 .12 .48 0 .02 Homo sapiens C___2538750_10 COMT C/G | MIM:116790|PharmGKB:PA117 rs4818 hCV2538750 | catechol-O-methyltransferase NM_000754|NM_007310 GCCTGCTGTCACCAGGGGCGAGGCT[C/G]ATCACCATCGAGATCAACCCCGACT 18331207 NCBI Build 36.2 Human 22q,22q11.21c,22q11.21,22q11.2,22q1,22q11 22 .48 .31 .27 .27 Homo sapiens C___2544197_10 ABCB5 ABCB5beta|EST422562|ABCB5alpha A/G rs2301641 hCV2544197 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 TACGTCTGCCCTGGATTCAGAAAGC[A/G]AGTCAGCTGTTCAAGCTGCACTGGA 20664795 NCBI Build 36.2 Human 7p,7p15.3d,7p1,7p15.3,7p15 7 .34 .49 .28 .24 Homo sapiens C___2547557_30 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 A/G MIM:100650|PharmGKB:PA24696 rs886205 hCV2547557 UTR 5 aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 CTCTTCACCTGGAGCATCAGCCGGG[A/G]AGGTCAGGGTCGCCCTGGCTCGGGC 110688810 NCBI Build 36.2 Human 12q,12q24.12b,12q24.12,12q24.1,12q24,12q2 12 .17 .32 .22 .08 Homo sapiens C___2548962_20 PON1 ESA|PON C/T Q192R MIM:168820 rs662 hCV2548962 Mis-sense Mutation paraoxonase 1 NM_000446 TAAACCCAAATACATCTCCCAGGAT[C/T]GTAAGTAGGGGTCAAGAAAATAGTG 94775382 NCBI Build 36.2 Human 7q,7q21.3b,7q21.3,7q21,7q2 7 .19 .38 .39 .41 Homo sapiens C___2583815_20 CYP4F2 CPF2 A/C V185G MIM:604426 rs3093153 hCV2583815 Mis-sense Mutation cytochrome P450, family 4, subfamily F, polypeptide 2 NM_001082 CTCAAACATATCCAAACAGGCACTA[A/C]CCTCTGAGGCCAGGAGCTGCCACTT 15862215 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 .05 0 0 0 Homo sapiens C___2623923_20 ALDH3B1 ALDH4|ALDH7|FLJ26433 C/T S383S|S346S MIM:600466 rs2286163 hCV2623923 Silent Mutation|Silent Mutation aldehyde dehydrogenase 3 family, member B1 NM_000694|NM_001030010 AGCGGGTGCTGACCCAGACCAGCAG[C/T]GGGGGCTTCTGTGGGAACGACGGCT 67550085 NCBI Build 36.2 Human 11q,11q13.2,11q13.2a,11q13,11q1 11 .2 .29 .25 .24 Homo sapiens C___2630132_20 PON3 A/G F21F MIM:602720 rs13226149 hCV2630132 Silent Mutation paraoxonase 3 NM_000940 AAGATGCCACTCACCTAAACGCCAG[A/G]AACATCTCCCCGACTAAGGACAGGC 94863536 NCBI Build 36.2 Human 7q,7q21.3b,7q21.3,7q21,7q2 7 .17 .28 .27 .19 Homo sapiens C___2630153_20 PON2 C/G A148G|A136G MIM:602447|PharmGKB:PA33530 rs12026 hCV2630153 Mis-sense Mutation|Mis-sense Mutation paraoxonase 2 NM_000305|NM_001018161 TTTCAGATGCAACAGAGAATTTTCT[C/G]CTTCTTCAAATTTAAAAATTTCCAC 94878952 NCBI Build 36.2 Human 7q,7q21.3b,7q21.3,7q21,7q2 7 .12 .23 .25 .21 Homo sapiens C___2631552_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha A/G rs10254317 hCV2631552 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 ATGCCTTTATATATTTTGCCTATGC[A/G]GCAGGGTTTCGATTTGGAGCCTATT 20734538 NCBI Build 36.2 Human 7p,7p15.3d,7p1,7p15.3,7p15 7 .35 .23 .23 .31 Homo sapiens C___2649487_20 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757 A/G L1336L MIM:604323|PharmGKB:PA376 rs11568589 hCV2649487 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 3 NM_003786 GCAAGTCTTCCATGACCCTTTGCCT[A/G]TTCCGCATCCTGGAGGCGGCAAAGG 46116362 NCBI Build 36.2 Human 17q,17q21.33b,17q21.33,17q21.3,17q2,17q21 17 .01 0 0 0 Homo sapiens C___7586664_10 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 A/C G185V MIM:171050|PharmGKB:PA267 rs1128501 hCV7586664 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 GAACATTCCAATTTTGTCACCAATT[A/C]CTTCATTAATCTTGGAGACATCACT 87033470 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 0 0 0 0 Homo sapiens C___7586795_20 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 C/T N44S MIM:171050|PharmGKB:PA267 rs1202183 hCV7586795 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 CACCATATACAACTTGTCAAGCCAA[C/T]TTGAATAGCGAAACTAAAAAGAGAG 87052919 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 0 0 0 0 Homo sapiens C___7599638_20 ABCB8 MABC1|M-ABC1|EST328128 A/T MIM:605464 rs1140977 hCV7599638 ATP-binding cassette, sub-family B (MDR/TAP), member 8 NM_007188 CACTCCCTAGGGGCTGCGAAGCTGC[A/T]CCCAGGTGGCAGGCTGCCTGGTGTC 150363616 NCBI Build 36.2 Human 7q,7q36.1d,7q36,7q36.1,7q3 7 0 0 0 0 Homo sapiens C___7607421_30 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 C/G P511A||P512A|P508A|P508A|P508A|P512A|P512A|P508A|P243A MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 rs1042709 hCV7607421 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 GGCCTTCATCACCTTTAAATGTTGT[C/G]CTTATGGCTACCGGAAATGCTTGGG 234345873 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C___7613022_20 CHST8 A/G MIM:610190 rs1064349 hCV7613022 UTR 3 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 NM_022467 ACCACGTGGTTTGCAGCTTTTCTAC[A/G]AGCCAGGGGGGAGGTTCCCTTGGAT 38956194 NCBI Build 36.2 Human 19q,19q13.11b,19q13.11,19q13,19q13.1,19q1 19 .09 .14 .03 .02 Homo sapiens C___7732401_60 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*1C,g.-74C>T A/G MIM:605325|PharmGKB:PA131 rs28371764 hCV7732401 UTR 5 cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 AGTGCTGCTGTTTGCTGGGCTGTTT[A/G]CCTGGAGCTTCCCTGCCCTGCACAG 99115529 NCBI Build 36.2 Human 7q,7q22.1b,7q22.1,7q22,7q2 7 .05 .01 0 0 Homo sapiens C___7817764_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*13B,g.15582C>T|CYP2B6*15A,g.15582C>T|CYP2B6*15B,g.15582C>T|CYP2B6*1C,g.15582C>T C/T MIM:123930|PharmGKB:PA123 rs4803419 hCV7817764 Intron cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 CAGGCACTTCAGTCTGTGTCCTTGA[C/T]CTGCTGCTTCTTCCTAGGGGCCCTC 46204632 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 .32 .11 .49 .38 Homo sapiens C___7817765_60 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*6A,c.516G>T|CYP2B6*6A,g.15631G>T|CYP2B6*6B,c.516G>T|CYP2B6*6B,g.15631G>T|CYP2B6*6C,c.516G>T|CYP2B6*6C,g.15631G>T|CYP2B6*7A,c.516G>T|CYP2B6*7A,g.15631G>T|CYP2B6*7B,c.516G>T|CYP2B6*7B,g.15631G>T|CYP2B6*9,c.516G>T|CYP2B6*9,g.15631G>T|CYP2B6*13A,c.516G>T|CYP2B6*13A,g.15631G>T|CYP2B6*13B,c.516G>T|CYP2B6*13B,g.15631G>T|CYP2B6*19,c.516G>T|CYP2B6*19,g.15631G>T|CYP2B6*20,c.516G>T|CYP2B6*20,g.15631G>T G/T Q172H MIM:123930|PharmGKB:PA123 rs3745274 hCV7817765 Mis-sense Mutation cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 TCATGGACCCCACCTTCCTCTTCCA[G/T]TCCATTACCGCCAACATCATCTGCT 46204681 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 .17 .42 .18 .3 Homo sapiens C___8059538_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G MIM:605250|PharmGKB:PA397 rs34559063 hCV8059538 UTR 3 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 TATAGACATTTTGAATATAGCTATC[A/G]TTTTAACAAACCTCATTATGATCAC 94470238 NCBI Build 36.2 Human 13q,13q32.1,13q32,13q32.1a,13q3 13 .42 .41 .48 .45 Homo sapiens C___8124737_20 RALBP1 RIP|RIP1|RLIP76 C/G MIM:605801|PharmGKB:PA34199 rs12680 hCV8124737 UTR 3 ralA binding protein 1 NM_006788 ACAAGCCCATGCTGCTGCAGAGGGA[C/G]CCTGTGTTTGCAAAACCCAGTGGAC 9527835 NCBI Build 36.2 Human 18p,18p11.22b,18p11.22,18p11.2,18p11,18p1 18 .05 .1 .03 .02 Homo sapiens C___8302427_30 AHR C/T MIM:600253 rs1803079 hCV8302427 UTR 3 aryl hydrocarbon receptor NM_001621 TTTAGTGGAAAATAGGCTTTTTAAT[C/T]ATGAATATGATGACAATCAGTTATA 17351795 NCBI Build 36.2 Human 7p,7p21.1b,7p21.1,7p21,7p2 7 0 0 0 0 Homo sapiens C___8302428_20 AHR C/T MIM:600253 rs1803080 hCV8302428 UTR 3 aryl hydrocarbon receptor NM_001621 TTTAAACCTTTTATTATAAGTCTTA[C/T]ATAAACCATTTTTGTTACTCTCTTC 17351723 NCBI Build 36.2 Human 7p,7p21.1b,7p21.1,7p21,7p2 7 0 0 0 0 Homo sapiens C___8303546_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 C/G MIM:124010|PharmGKB:PA130 rs1041966 hCV8303546 UTR 5 cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 CACTACTTTCCTTACTTATCTCTCT[C/G]CTCTGAGTCTTCCTTTCAGCTCTGT 99219666 NCBI Build 36.2 Human 7q,7q22.1b,7q22.1,7q22,7q2 7 0 0 0 0 Homo sapiens C___8310267_30 ABCC10 MRP7|SIMRP7|EST182763 A/G rs700008 hCV8310267 UTR 5 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 NM_033450 AGGTGAGGGGTATGTCTGGCTCCTG[A/G]GTCAGCCACGATGTGCCTCCTTGTC 43507815 NCBI Build 36.2 Human 6p,6p21.1c,6p21.1,6p21,6p2 6 0 0 0 0 Homo sapiens C___8311873_20 SLC29A1 ENT1|MGC1465|MGC3778 C/T |||| MIM:602193|PharmGKB:PA154 rs1046309 hCV8311873 |||| solute carrier family 29 (nucleoside transporters), member 1 NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 CCCTCCCAACTCCCCATGCCCAGTT[C/T]TTACCCATCATGCACCCTGTACAGT 44309739 NCBI Build 36.2 Human 6p,6p21.1b,6p21.1,6p21,6p2 6 0 0 0 0 Homo sapiens C___8342436_30 ALDH1A1 ALDC|ALDH1|PUMB1|ALDH11|RALDH1|ALDH-E1|MGC2318 C/T N121S MIM:100640 rs1049981 hCV8342436 Mis-sense Mutation aldehyde dehydrogenase 1 family, member A1 NM_000689 TGTTTTGATGCAGCCTGCTAAATCA[C/T]TCAGATATGCATTGGAATAGAGTTT 74733708 NCBI Build 36.2 Human 9q,9q21.13a,9q21.13,9q21,9q21.1,9q2 9 0 0 0 0 Homo sapiens C___8378380_40 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T MIM:603377|PharmGKB:PA333 rs1045020 hCV8378380 UTR 3 solute carrier family 22 (organic cation transporter), member 5 NM_003060 AACTGAAGAGGAAAGACTGTCTTGC[C/T]AGAAATGGCCAGCTTGTGCAGACTC 131757910 NCBI Build 36.2 Human 5q,5q31.1b,5q3,5q31.1,5q31 5 .07 .05 0 0 Homo sapiens C___8383855_20 DPYD DHP|DPD|MGC70799|MGC132008 C/T MIM:274270|PharmGKB:PA145 rs1801158 hCV8383855 dihydropyrimidine dehydrogenase NM_000110 AAACTTCAATCCGGCCATTTCTACA[C/T]TAATGTCCACCAGATCAATAGGAGT 97754009 NCBI Build 36.2 Human 1p,1p21.3b,1p21.3,1p21,1p2 1 .03 0 0 0 Homo sapiens C___8393505_20 DPYD DHP|DPD|MGC70799|MGC132008 A/C MIM:274270|PharmGKB:PA145 rs1801268 hCV8393505 dihydropyrimidine dehydrogenase NM_000110 TTGATGCAGTCGACAATAGGGCAAA[A/C]ACTGAGACACAGAGTACAGCCTGTA 97317215 NCBI Build 36.2 Human 1p,1p21.3b,1p21.3,1p21,1p2 1 0 0 0 0 Homo sapiens C___8393589_30 DPYD DHP|DPD|MGC70799|MGC132008 C/T MIM:274270|PharmGKB:PA145 rs1801267 hCV8393589 dihydropyrimidine dehydrogenase NM_000110 CTTGTTTTCTGCTATGATTTTCTTG[C/T]GCTGTTCCAGATAAGGTCCAAAACT 97336742 NCBI Build 36.2 Human 1p,1p21.3b,1p21.3,1p21,1p2 1 0 0 0 0 Homo sapiens C___2242993_20 ATP7A MK|MNK|RP3-465G10.1 A/C MIM:300011|PharmGKB:PA72 hCV2242993 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 TGAGGGGAATGACGTGTGCCTCCTG[A/C]GTACATAAAATAGAGTCTAGTCTCA 77151281 NCBI Build 36.2 Human Xq,Xq21,Xq21.1a,Xq2,Xq21.1 X 0 0 0 0 Homo sapiens C___2255322_10 COMT A/G Q73Q|Q23Q MIM:116790|PharmGKB:PA117 rs740602 hCV2255322 Silent Mutation|Silent Mutation catechol-O-methyltransferase NM_000754|NM_007310 AGCATGCGGAGCCCGGGAACGCACA[A/G]AGCGTGCTGGAGGCCATTGACACCT 18330268 NCBI Build 36.2 Human 22q,22q11.21c,22q11.21,22q11.2,22q1,22q11 22 .02 .13 0 0 Homo sapiens C___2255323_20 COMT C/T L203L|L153L MIM:116790|PharmGKB:PA117 rs165631 hCV2255323 Silent Mutation|Silent Mutation catechol-O-methyltransferase NM_000754|NM_007310 ACCGGTACCTGCCGGACACGCTTCT[C/T]TTGGAGGTGAGCCCCAACCAGGATG 18331816 NCBI Build 36.2 Human 22q,22q11.21c,22q11.21,22q11.2,22q1,22q11 22 .01 0 0 0 Homo sapiens C___2259750_20 PON1 ESA|PON A/T MIM:168820 rs854560 hCV2259750 paraoxonase 1 NM_000446 GCCAGTCCATTAGGCAGTATCTCCA[A/T]GTCTTCAGAGCCAGTTTCTGCCAGA 94784020 NCBI Build 36.2 Human 7q,7q21.3b,7q21.3,7q21,7q2 7 .37 .2 .05 .02 Homo sapiens C___2265723_50 CYP4F12 F22329_1 C/T MIM:611485 rs593421 hCV2265723 cytochrome P450, family 4, subfamily F, polypeptide 12 NM_023944 CACTGAGCCCCGCAGGAAGCTGGAA[C/T]TGATCATGCGCGCCGAGGGCGGGCT 15668830 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 .27 .44 .02 0 Homo sapiens C___2265724_30 CYP4F12 F22329_1 A/G MIM:611485 rs593818 hCV2265724 cytochrome P450, family 4, subfamily F, polypeptide 12 NM_023944 GCTGCGGGTGGAGCCCCTGAATGTA[A/G]GCTTGCAGTGACTTTCTGACCCATC 15668884 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 .48 .29 .31 .28 Homo sapiens C___2275858_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G N245D|N245D MIM:609523 hCV2275858 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 TTGTGGCCAAACCTGCATTGCACCC[A/G]ACTATATTCTCTGTGAAGCATCCCT 19501702 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C___2275865_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T P121L|P121L MIM:609523 hCV2275865 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 TACCCCTTCGTTCTCACCATTCAGC[C/T]ACTGATAGGAGCCATCGCTGCAGGT 19495660 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C___2275866_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T P114L|P114L MIM:609523 hCV2275866 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 CTGATAATCGGAGCTTGGAATTACC[C/T]CTTCGTTCTCACCATTCAGCCACTG 19495639 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C___2275868_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G *78W|*78W MIM:609523 hCV2275868 Nonsense Mutation|Nonsense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 TTTATGCTTGAGAATCTTCCTGAAT[A/G]GGTTACTGCTAAACCAGTTAAGAAG 19495531 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C___2275871_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T Q10*|Q10* MIM:609523 hCV2275871 Nonsense Mutation|Nonsense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 GGAGCTCGAAGTCCGGCGGGTCCGA[C/T]AGGCGTTCCTGTCCGGCCGGTCGCG 19492904 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C___2294239_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T || MIM:171060|PharmGKB:PA268 rs31655 hCV2294239 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 AGCCACTGGACATTGAGTTTCTTTG[C/T]TTCTTGACCATCGAGAAGCTGAAAA 86873728 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 0 0 0 0 Homo sapiens C___2307581_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 C/T S488F||S489F|S485F|S485F|S485F|S489F|S489F|S485F|S220F MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 hCV2307581 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 GACCTCACCTGGTACCAGTACCATT[C/T]CTTGGACGTGATTGGTTTCCTCTTG 234345805 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C___2307583_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 UGT1A1*24,c.1309A>T A/T K437*||K438*|K434*|K434*|K434*|K438*|K438*|K434*|K169* MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 hCV2307583 Nonsense Mutation||Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CGAAACTGTCTTTGTGTTTAGTTAC[A/T]AGGAGAACATCATGCGCCTCTCCAG 234345651 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C___2307584_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 UGT1A1*23,c.1282A>G|UGT1A1*40,c.1282A>G A/G K428E||K429E|K425E|K425E|K425E|K429E|K429E|K425E|K160E MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 hCV2307584 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 TTCTGAAGATTTAGAAAATGCTCTA[A/G]AAGCAGTCATCAATGACAAAAGGTA 234341802 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C___2307585_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 UGT1A1*18,c.1201G>C|UGT1A1*39,c.1201G>C C/G A401P||P402A|P398A|P398A|P398A|P402A|P402A|P398A|P133A MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419|MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181 hCV2307585 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CTTGTTTGGTGATCAGATGGACAAT[C/G]CAAAGCGCATGGAGACTAAGGGAGC 234341721 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C___2307586_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 UGT1A1*17,c.1143C>G C/G S381R||S382R|S378R|S378R|S378R|S382R|S382R|S378R|S113R MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 hCV2307586 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CTGGTTCCCATGGTGTTTATGAAAG[C/G]ATATGCAATGGCGTTCCCATGGTGA 234341663 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C___2307587_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 UGT1A1*3,c.1124C>T C/T S375F||S376F|S372F|S372F|S372F|S376F|S376F|S372F|S107F MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 hCV2307587 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CGTGCCTTTATCACCCATGCTGGTT[C/T]CCATGGTGTTTATGAAAGCATATGC 234341644 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C___2307589_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 UGT1A1*29,c.1099C>G C/G R367G||R368G|R364G|R364G|R364G|R368G|R368G|R364G|R99G MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 hCV2307589 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 TTGCATCTCAGGTCACCCGATGACC[C/G]GTGCCTTTATCACCCATGCTGGTTC 234341619 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C___1307419_40 CHST2 C6ST C/T MIM:603798 rs6664 hCV1307419 UTR 3 carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 NM_004267 AAGCCGAGGAGGCATTCTTCTAAAG[C/T]AGACTTTTGTGTAAAAAGCAAAGGT 144324430 NCBI Build 36.2 Human 3q,3q23d,3q23,3q2 3 .35 .5 .27 .38 Homo sapiens C___1329163_10 CYP2C19 CPCJ|CYP2C|CYP 2C|P450C2C|P450IIC19|RP11-400G3.4 CYP2C19*2A,c.990C>T|CYP2C19*2A,g.80160C>T|CYP2C19*2B,c.990C>T|CYP2C19*2B,g.80160C>T|CYP2C19*2C,c.990C>T|CYP2C19*2C,g.80160C>T C/T V330V MIM:124020|PharmGKB:PA124 rs3758580 hCV1329163 Silent Mutation cytochrome P450, family 2, subfamily C, polypeptide 19 NM_000769 AAGTCCAGGAAGAGATTGAACGTGT[C/T]GTTGGCAGAAACCGGAGCCCCTGCA 96592612 NCBI Build 36.2 Human 10q,10q23.33c,10q23.33,10q23.3,10q23,10q2 10 .15 .1 .18 .32 Homo sapiens C___1329179_20 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 CYP2C9*9,c.752A>G|CYP2C9*9,g.10535A>G A/G H251R MIM:601130|PharmGKB:PA126 rs2256871 hCV1329179 Mis-sense Mutation cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 TATATTTTGGAAAAAGTAAAAGAAC[A/G]CCAAGAATCAATGGACATGAACAAC 96698964 NCBI Build 36.2 Human 10q,10q23.33c,10q23.33,10q23.3,10q23,10q2 10 0 .13 0 0 Homo sapiens C___1342427_30 SLC28A1 CNT1|HCNT1 A/G Q456Q| MIM:606207|PharmGKB:PA387 rs2242048 hCV1342427 Silent Mutation| solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 NM_004213|NM_201651 GGCTGGGAGACATGGTGGACATCCA[A/G]GGGCTCAGCTTCCAGGTGCGTTTCT 83279414 NCBI Build 36.2 Human 15q,15q25.3a,15q25.3,15q25,15q2 15 .19 .04 .06 .01 Homo sapiens C___1348505_20 ALDH1B1 ALDH5|ALDHX|MGC2230 C/T P215S MIM:100670 hCV1348505 Mis-sense Mutation aldehyde dehydrogenase 1 family, member B1 NM_000692 GGTTATGAAGGTGGCAGAGCAGACC[C/T]CCCTCTCTGCCCTGTATTTGGCCTC 38386388 NCBI Build 36.2 Human 9p,9p13.1b,9p13.1,9p1,9p13 9 0 0 0 0 Homo sapiens C___1432134_10 UGT1A1 GNT1|UGT1|UDPGT|UGT1A|HUG-BR1 UGT1A1*60,g.-3279T>G G/T MIM:191740|PharmGKB:PA420 rs4124874 hCV1432134 UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463 AAGCTGGCCAAGGGTAGAGTTCAGT[G/T]TGAACAAAGCAATTTGAGAACATCA 234330398 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 .44 .15 .25 .31 Homo sapiens C___1432159_10 UGT1A3 UGT1C UGT1A3*2a,g.81G>A|UGT1A3*2b,g.81G>A|UGT1A3*3a,g.81G>A|UGT1A3*3b,g.81G>A|UGT1A3*5,g.81G>A A/G |E27E MIM:606428 rs6706232 hCV1432159 Intron|Silent Mutation UDP glucuronosyltransferase 1 family, polypeptide A3 NM_007120|NM_019093 TCCTCAGTGTCCAGCCCTGGGCTGA[A/G]AGTGGAAAGGTGTTGGTGGTGCCCA 234302592 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 .49 .21 .24 .32 Homo sapiens C___1432204_30 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860 UGT1A6*2a,c.19T>G|UGT1A6*2a,g.19T>G|UGT1A6*2b,c.19T>G|UGT1A6*2b,g.19T>G|UGT1A6*2c,c.19T>G|UGT1A6*2c,g.19T>G|UGT1A6*2d,c.19T>G|UGT1A6*2d,g.19T>G|UGT1A6*2e,c.19T>G|UGT1A6*2e,g.19T>G|UGT1A6*3a,c.19T>G|UGT1A6*3a,g.19T>G|UGT1A6*3b,c.19T>G|UGT1A6*3b,g.19T>G|UGT1A6*4,c.19T>G|UGT1A6*4a,c.19T>G|UGT1A6*4a,g.19T>G|UGT1A6*4b,c.19T>G|UGT1A6*4b,g.19T>G|UGT1A6*4c,c.19T>G|UGT1A6*4c,g.19T>G|UGT1A6*5,c.19T>G|UGT1A6*6,c.19T>G|UGT1A6*6,g.19T>G|UGT1A6*7,c.19T>G|UGT1A6*7,g.19T>G G/T || MIM:606431|PharmGKB:PA37181 rs6759892 hCV1432204 ||Intron UDP glucuronosyltransferase 1 family, polypeptide A6 NM_001072|NM_007120|NM_205862 TTCCAGGATGGCCTGCCTCCTTCGC[G/T]CATTTCAGAGAATTTCTGCAGGGGT 234266408 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 .46 .39 .22 .14 Homo sapiens C___1820227_30 SLC28A3 CNT3 A/G L461L MIM:608269|PharmGKB:PA426 rs7853758 hCV1820227 Silent Mutation solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NM_022127 GACAGGGCTGAATTCATAAAAGACA[A/G]CAGGGCCAGGAAGGCAATCAGATTC 86090746 NCBI Build 36.2 Human 9q,9q21.32c,9q21.32,9q21.3,9q21,9q2 9 .14 .27 .11 .23 Homo sapiens C___1823316_20 DPYD DHP|DPD|MGC70799|MGC132008 C/T MIM:274270|PharmGKB:PA145 rs1801159 hCV1823316 dihydropyrimidine dehydrogenase NM_000110 GCGCTAGCAAGACCAAAAGGATTTA[C/T]AAACTTCAATCCGGCCATTTCTACA 97753983 NCBI Build 36.2 Human 1p,1p21.3b,1p21.3,1p21,1p2 1 .16 .21 .31 .25 Homo sapiens C___1827058_10 CYP4F3 CPF3|CYP4F|LTB4H A/G MIM:601270 rs1053037 hCV1827058 cytochrome P450, family 4, subfamily F, polypeptide 3 NM_000896 TCAGCCTCATGACCTTGGACAGTCT[A/G]CAGAAATGTGTCTTCAGCTTTGACA 15621053 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 .23 .06 .02 .07 Homo sapiens C___1837672_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*1F,g.-747C>G C/G MIM:124010|PharmGKB:PA130 rs11773597 hCV1837672 cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 CTGTCATGGCTCTGGTCCCTACCAG[C/G]GTGCTGTACACACAGTGGGCAACTA 99220387 NCBI Build 36.2 Human 7q,7q22.1b,7q22.1,7q22,7q2 7 .03 0 0 0 Homo sapiens C___1843468_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/T || MIM:171060|PharmGKB:PA268 rs2109505 hCV1843468 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 GTTCTTTGTCACTAAATGCCGAGAG[A/T]ATCTGGACAGAAAAGAAACAGTGAT 86917342 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 .21 .3 .27 .28 Homo sapiens C___1843476_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || MIM:171060|PharmGKB:PA268 rs2302387 hCV1843476 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 TGAGCTATGGCCATGATGGTACCCA[A/G]CGACATAAACAATTTATCCTGCCAA 86930121 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 .15 .47 .2 .18 Homo sapiens C___1883759_30 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 C/T || MIM:602883|PharmGKB:PA328 rs4337089 hCV1883759 UTR 3|Intron| solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 GTGTGCTGCATTCTCATATTTATAA[C/T]GTGCTTTTTACATACAGAAGGGACA 21319219 NCBI Build 36.2 Human 12p,12p12.1,12p12.1e,12p12,12p1 12 .07 .01 0 0 Homo sapiens C___1883832_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/T || MIM:602883|PharmGKB:PA328 rs7957203 hCV1883832 Intron|Intron| solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 AATCAGTGTCTCCAATTGTCCTGTT[A/T]TAAAACAAAAGACTCTTACTAAACT 21368729 NCBI Build 36.2 Human 12p,12p12.1,12p12.1e,12p12,12p1 12 .25 .24 .24 .47 Homo sapiens C___1901697_20 SLCO1B1 LST-1|OATP2|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G MIM:604843|PharmGKB:PA35842 rs2306283 hCV1901697 solute carrier organic anion transporter family, member 1B1 NM_006446 CAGGTATTCTAAAGAAACTAATATC[A/G]ATTCATCAGAAAATTCAACATCGAC 21221005 NCBI Build 36.2 Human 12p,12p12.1,12p12.1e,12p12,12p1 12 .3 .27 .23 .38 Homo sapiens C__30633851_20 DPYD DHP|DPD|MGC70799|MGC132008 C/T MIM:274270|PharmGKB:PA145 rs3918290 hCV30633851 dihydropyrimidine dehydrogenase NM_000110 TGTTTTAGATGTTAAATCACACTTA[C/T]GTTGTCTGGAAAGTCAGCCTTTAGT 97688202 NCBI Build 36.2 Human 1p2,1p21,1p21.3,1p21.3b,1p 1 .03 0 0 0 Homo sapiens C__30633871_50 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*3B,g.3705C>T G/A H30Y MIM:605325|PharmGKB:PA131 rs28383468 hCV30633871 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 ATTCCCAGTCTCTTAAAAAGTCCAT[G/A]TGTACGGGTCCCATATCTACAAAGT 99111751 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 .01 0 0 0 Homo sapiens C__30633905_60 SLCO1B1 LST-1|OATP2|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G MIM:604843|PharmGKB:PA35842 hCV30633905 solute carrier organic anion transporter family, member 1B1 NM_006446 TTATCACTCAATAGAGCATCACCTG[A/G]GATAGTGGGAAAAGGTAAGAATTAA 21221084 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 0 Homo sapiens C__30633911_60 SLCO1B1 LST-1|OATP2|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G MIM:604843|PharmGKB:PA35842 hCV30633911 solute carrier organic anion transporter family, member 1B1 NM_006446 ATGAAGAAAAAATATCAAGAGAAAG[A/G]TATCAATGCATCAGAAAATGGAAGT 21283278 NCBI Build 36.2 Human 12p,12p12.1,12p12.1e,12p12,12p1 12 0 0 0 0 Homo sapiens C__30633912_20 SLCO1B1 LST-1|OATP2|OATP-C|OATP1B1|SLC21A6|MGC133282 G/A MIM:604843|PharmGKB:PA35842 hCV30633912 solute carrier organic anion transporter family, member 1B1 NM_006446 TCAGAAAATGGAAGTGTCATGGATG[G/A]AGCAAACTTAGAATCCTTAAATAAA 21283314 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 0 Homo sapiens C__30634118_30 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*11,g.883G>C C/G | MIM:124030|PharmGKB:PA128 rs5030863 hCV30634118 Acceptor Splice Site|Acceptor Splice Site cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 ACACGTCCCCGAAGCGGCGCCGCAA[C/G]TGCAGAGGGAGGGTCAGGGCCTCTT 40855856 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2b,22q 22 0 0 0 0 Homo sapiens C__30634137_10 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 CYP2C9*10,c.815A>G|CYP2C9*10,g.10598A>G G/A E272G MIM:601130|PharmGKB:PA126 rs9332130 hCV30634137 Mis-sense Mutation cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 ATTGATTGCTTCCTGATGAAAATGG[G/A]GAAGGTAAAATGTAAACAAAAGCTT 96699027 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 0 0 0 0 Homo sapiens C__30634230_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6,g.1890G>C C/G MIM:122720|PharmGKB:PA121 rs8192727 hCV30634230 Intron cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 GCCTTTCCCCACCTAGTCCCCATCC[C/G]CAGGCAGAACGCGCGCGGGTTCCTC 46046282 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .08 .1 .03 .02 Homo sapiens C__30720663_20 UGT2B7 UGT2B9 UGT2B7*2b,c.-327G>A|UGT2B7*2b,g.-327G>A|UGT2B7*2c,c.-327G>A|UGT2B7*2c,g.-327G>A|UGT2B7*2d,c.-327G>A|UGT2B7*2d,g.-327G>A|UGT2B7*2f,c.-327G>A|UGT2B7*2f,g.-327G>A A/G MIM:600068|PharmGKB:PA361 rs7662029 hCV30720663 UDP glucuronosyltransferase 2 family, polypeptide B7 NM_001074 TTGTGTCAAATGGACTGCAGAAACA[A/G]GATCTGTCACTGCTACTGTTCTGGA 69996501 NCBI Build 36.2 Human 4q1,4q13,4q13.2,4q13.2c,4q 4 .42 .36 .3 .24 Homo sapiens C__32287209_40 CYP2C8 CPC8|P450 MP-12/MP-20 CYP2C8*5,c.475delA|CYP2C8*5,g.2189delA T/- MIM:601129|PharmGKB:PA125 hCV32287209 cytochrome P450, family 2, subfamily C, polypeptide 8 NM_000770 AGAGTAGAGTCACCCACCCTTGGTT[T/-]TTCTCAACTCCTCCACAAGGCAGTG 96816961 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 0 0 0 0 Homo sapiens C__32407229_60 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*9,g.2613_2615delAGA TCT/- | MIM:124030|PharmGKB:PA128 hCV32407229 Amino Acid InDel|Amino Acid InDel cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 CCACCGTGGCAGCCACTCTCACCT[TCT/-]CCATCTCTGCCAGGAAGGCCTCAG 40854122 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2b,22q 22 .01 0 0 0 Homo sapiens C__32407230_30 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*38,g.2587-2590delGACT|CYP2D6*38,g.2587_2590delGACT AGTC/- LT271|LT220 MIM:124030|PharmGKB:PA128 hCV32407230 Frame Shift Delete|Frame Shift Delete cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 TCCATCTCTGCCAGGAAGGCCTC[AGTC/-]AGGTCTCGGGGGGGCTGGGCTGGG 40854147 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2b,22q 22 0 0 0 0 Homo sapiens C__32407232_50 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*3A,g.2549delA|CYP2D6*3B,g.2549delA T/- R259|R208 MIM:124030|PharmGKB:PA128 rs35742686 hCV32407232 Frame Shift Delete|Frame Shift Delete cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 GGCTGGGCTGGGTCCCAGGTCATCC[T/-]GTGCTCAGTTAGCAGCTCATCCAGC 40854188 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2b,22q 22 0 .01 0 0 Homo sapiens C__27843087_10 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI UGT1A9*1l,g.-275T>A|UGT1A9*1n,c.-275T>A|UGT1A9*1n,g.-275T>A|UGT1A9*1l,c.-275T>A A/T MIM:606434|PharmGKB:PA419 rs6714486 hCV27843087 UDP glucuronosyltransferase 1 family, polypeptide A9 NM_021027 AAAAGCATTGGTTAATAATTCTGCT[A/T]CTAAACTTAACATTGCAGCACAGGG 234245044 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 .01 .11 0 0 Homo sapiens C__27859818_20 CYP2J2 CPJ2 CYP2J2*2,c.427A>G|CYP2J2*2,g.14488A>G C/T T143A MIM:601258 hCV27859818 Mis-sense Mutation cytochrome P450, family 2, subfamily J, polypeptide 2 NM_000775 CCTAAACCAAAGTTCCTTAGTGCTG[C/T]CAGAGTGAACCTTCTTTGCTCCTTC 60150518 NCBI Build 36.2 Human 1p3,1p32,1p32.1,1p32.1c,1p 1 0 0 0 0 Homo sapiens C__29330248_10 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 A/G MIM:603201|PharmGKB:PA374 rs7602171 hCV29330248 Intron ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 AAGTTTCAGAATGATACTGTATGAT[A/G]CCATTTATGTAAATTGTGTTACCTG 169588424 NCBI Build 36.2 Human 2q31.1a,2q3,2q31,2q31.1,2q 2 .29 .22 .17 .12 Homo sapiens C__30403261_20 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200 C/T | MIM:608547 rs9923231 hCV30403261 | vitamin K epoxide reductase complex, subunit 1 NM_024006|NM_206824 GATTATAGGCGTGAGCCACCGCACC[C/T]GGCCAATGGTTGTTTTTCAGGTCTT 31015190 NCBI Build 36.2 Human 16p,16p11.2c,16p11,16p11.2,16p1 16 .38 .15 .09 .13 Homo sapiens C___2275846_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/T A482A| MIM:609523 rs7216 hCV2275846 Silent Mutation|UTR 3 aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 GAATCCTTTTTTCCTCTCTCCAGGC[A/T]GAATATTACTGAAGAATGATCCTGT 19519465 NCBI Build 36.2 Human 17p1,17p11.2,17p11,17p11.2d,17p 17 .33 .43 .01 .02 Homo sapiens C___2431871_30 CYP2E1 CPE1|CYP2E|P450-J|P450C2E CYP2E1*7A,g.-333T>A|CYP2E1*7B,g.-333T>A|CYP2E1*7C,g.-333T>A A/T MIM:124040|PharmGKB:PA129 rs2070673 hCV2431871 cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 TGTCTAACCAGTGCCAAAGGGCAGG[A/T]CGGTACCTCACCCCACGTTCTTAAC 135190557 NCBI Build 36.2 Human 10q2,10q26,10q26.3,10q26.3f,10q 10 .13 .31 .44 .44 Homo sapiens C___2538747_20 COMT C/T H62H|H12H MIM:116790|PharmGKB:PA117 rs4633 hCV2538747 Silent Mutation|Silent Mutation catechol-O-methyltransferase NM_000754|NM_007310 CCAAGGAGCAGCGCATCCTGAACCA[C/T]GTGCTGCAGCATGCGGAGCCCGGGA 18330235 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.21,22q11.21c,22q 22 .44 .27 .35 .3 Homo sapiens C___2614970_10 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 C/T N21D MIM:171050|PharmGKB:PA267 rs9282564 hCV2614970 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 ATGAAACAAGCTAGTTACCTTTTAT[C/T]GTTCAGTTTAAAAAAGTTCTTCTTC 87067376 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .11 .01 0 0 Homo sapiens C___2814642_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 C/T MIM:601107|PharmGKB:PA116 rs717620 hCV2814642 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392 ACAATCATATTAATAGAAGAGTCTT[C/T]GTTCCAGACGCAGTCCAGGAATCAT 101532568 NCBI Build 36.2 Human 10q2,10q24,10q24.2,10q24.2c,10q 10 .2 .07 .11 .14 Homo sapiens C___2852784_30 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/G MIM:609300 rs743572 hCV2852784 UTR 5 cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 GGTGCCGGCAGGCAAGATAGACAGC[A/G]GTGGAGTAGAAGAGCTGTGGCAACT 104587142 NCBI Build 36.2 Human 10q2,10q24,10q24.3,10q24.32,10q24.32b,10q 10 .39 .33 .49 .4 Homo sapiens C___2858283_1_ ALDH1A1 ALDC|ALDH1|PUMB1|ALDH11|RALDH1|ALDH-E1|MGC2318 A/G S75S MIM:100640 rs13959 hCV2858283 Silent Mutation aldehyde dehydrogenase 1 family, member A1 NM_000689 CGGAAGCATCCATAGTACGCCACGG[A/G]GATCCAATCTGAAAAGCCTGTCTTG 74735702 NCBI Build 36.2 Human 9q,9q21.13a,9q21.13,9q21,9q21.1,9q2 9 .44 .31 .43 .44 Homo sapiens C___2961793_10 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAQB-69D7.2 A/G Q687*| MIM:170261 rs241448 hCV2961793 Nonsense Mutation|Intron transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) NM_000544|NM_018833 CGGGAATAGAGGTCCTGTCCCTCCT[A/G]GAGCTGGGCAAGCTTCTGCAGCTTG 32904663 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32a,6p 6 .34 .16 .44 .22 Homo sapiens C___3170445_1_ SLC22A4 OCTN1|MGC34546|MGC40524 C/T T306I PharmGKB:PA332|MIM:604190 rs272893 hCV3170445 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 4 NM_003059 CAAAAAGCTGCAAAAATGAACAACA[C/T]AGCTGTACCAGCAGTGATATTTGAT 131690961 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 .36 .26 .29 .27 Homo sapiens C___3170459_30 SLC22A4 OCTN1|MGC34546|MGC40524 C/T L503F MIM:604190|PharmGKB:PA332 rs1050152 hCV3170459 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 4 NM_003059 TAGTCTGACTGTCCTGATTGGAATC[C/T]TCACCCTTTTTTTCCCTGAAAGTTT 131704219 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 .41 .03 0 0 Homo sapiens C___3234239_10 NR3C1 GR|GCR|GRL|GCCR A/G H588H|H588H|H588H|H588H|H588H|H588H|H589H MIM:138040|PharmGKB:PA181 rs6194 hCV3234239 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 GCAGTAGGGTCATTTGGTCATCCAG[A/G]TGTAAGTTCCTGAAACCTGAATTAA 142658554 NCBI Build 36.2 Human 5q31,5q3,5q31.3,5q31.3e,5q 5 0 0 .13 .08 Homo sapiens C___3237198_20 GSTP1 PI|DFN7|GST3|FAEES3 A/G I105V MIM:134660|PharmGKB:PA29028 rs1695 hCV3237198 Mis-sense Mutation glutathione S-transferase pi NM_000852 CGTGGAGGACCTCCGCTGCAAATAC[A/G]TCTCCCTCATCTACACCAACTATGT 67109265 NCBI Build 36.2 Human 11q1,11q13,11q13.2a,11q13.2,11q 11 .27 .44 .13 .16 Homo sapiens C___7494699_10 CYP4F11 A/G rs1060467 hCV7494699 UTR 3 cytochrome P450, family 4, subfamily F, polypeptide 11 NM_021187 CTACAGAGGTGGGTGGGTGGGTAGG[A/G]CAGTCACTGTGAGTTCGCACCCAGG 15885538 NCBI Build 36.2 Human 19p13,19p1,19p13.1,19p13.12,19p13.12a,19p 19 .35 .29 .24 .17 Homo sapiens C___7504282_30 SLC15A2 PEPT2 A/G K509R MIM:602339|PharmGKB:PA35812 rs1143672 hCV7504282 Mis-sense Mutation solute carrier family 15 (H+/peptide transporter), member 2 NM_021082 TTGTAGGTAAAGGATACAGAAAGCA[A/G]AACAACCAATGGGATGACAACCGTG 123130858 NCBI Build 36.2 Human 3q1,3q13,3q13.3,3q13.33,3q13.33c,3q 3 .46 .44 .3 .28 Homo sapiens C___7586657_20 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 A/G MIM:171050|PharmGKB:PA267 rs1045642 hCV7586657 ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 TGTTGGCCTCCTTTGCTGCCCTCAC[A/G]ATCTCTTCCTGTGACACCACCCGGC 86976581 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .41 .2 .48 .4 Homo sapiens C___8059522_1_ ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/C MIM:605250|PharmGKB:PA397 rs3742106 hCV8059522 UTR 3 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 GTTTACATAGTCCAAAAACTAGTGG[A/C]AAATGCCTTCGGAACGGACTTGACA 94471792 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 .41 .32 .48 .44 Homo sapiens C___8234730_1_ CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM CYP19A1*2,g.32266G>T|CYP19A1*5,g.32266G>T A/C | MIM:107910 rs4646 hCV8234730 UTR 3|UTR 3 cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 TCTGGTGTGAACAGGAGCAGATGAC[A/C]AATAGCACCTAGCTTGGTGACAACC 49290136 NCBI Build 36.2 Human 15q21,15q2,15q21.2,15q21.2b,15q 15 .28 .32 .3 .36 Homo sapiens C___8234731_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM CYP19A1*3A,g.32124C>T|CYP19A1*3B,g.32124C>T|CYP19A1*4F,g.32124C>T|CYP19A1*5,g.32124C>T A/G | MIM:107910 rs10046 hCV8234731 UTR 3|UTR 3 cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 CTACTGATGAGAAATGCTCCAGAGT[A/G]GGTACTGACCAGCCTTCTCTAGTGT 49290278 NCBI Build 36.2 Human 15q,15q21.2b,15q21.2,15q2,15q21 15 .46 .2 .48 .46 Homo sapiens C___8317490_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || MIM:171060|PharmGKB:PA268 rs1202283 hCV8317490 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 GCCGCGTATTGAGTTCAGTGGTGTC[A/G]TTGATGTCAAACCATCCTATTTCCT 86920228 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 .47 .11 .37 .38 Homo sapiens C___8684085_20 NAT2 AAC2 NAT2*12B,g.282C>T|NAT2*13,g.282C>T|NAT2*14B,g.282C>T|NAT2*14D,g.282C>T|NAT2*14G,g.282C>T|NAT2*5G,g.282C>T|NAT2*5J,g.282C>T|NAT2*6A,g.282C>T|NAT2*6C,g.282C>T|NAT2*6D,g.282C>T|NAT2*7B,g.282C>T C/T MIM:243400|PharmGKB:PA18 rs1041983 hCV8684085 N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 CCACAATGTTAGGAGGGTATTTTTA[C/T]ATCCCTCCAGTTAACAAATACAGCA 18302075 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 .37 .49 .33 .47 Homo sapiens C___8699217_1_ CHST11 C4ST|C4ST1|C4ST-1|HSA269537 A/G MIM:610128 rs1048662 hCV8699217 carbohydrate (chondroitin 4) sulfotransferase 11 NM_018413 TTTCACATATTTGTATGCAGTAGAG[A/G]GCCTGTTGTAGAAAACGCTCCCTGT 103679757 NCBI Build 36.2 Human 12q2,12q23,12q23.3,12q23.3b,12q 12 .03 .17 .21 .16 Homo sapiens C___8794675_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM C/T V80V|V80V MIM:107910 rs700518 hCV8794675 Silent Mutation|Silent Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 TCCAGACTCGCATGAATTCTCCATA[C/T]ACCCGGTTGTAGTAGTTGCAGGCAC 49316404 NCBI Build 36.2 Human 15q21,15q2,15q21.2,15q21.2b,15q 15 .47 .2 .37 .34 Homo sapiens C__32407247_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*28,g.19G>A C/T M7V|M7V MIM:124030|PharmGKB:PA128 hCV32407247 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 ATGGCCACTATCACGGCCAGGGGCA[C/T]CAGTGCTTCTAGCCCCATACCTGCC 40856719 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2b,22q 22 0 0 0 0 Homo sapiens C__34418857_10 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI UGT1A9*1n,g.-2152C>T|UGT1A9*1l,c.-2152C>T|UGT1A9*1l,g.-2152C>T|UGT1A9*1n,c.-2152C>T C/T MIM:606434|PharmGKB:PA419 rs17868320 hCV34418857 UDP glucuronosyltransferase 1 family, polypeptide A9 NM_021027 CAATGCAACCTCCGCTTCCCGGGTT[C/T]AAGTGATTCTCCTGCCTCAGCCTCC 234243167 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 .01 0 0 0 Homo sapiens C__34816082_30 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*14,c.419G>A|CYP2B6*14,g.13076G>A A/G Q140R MIM:123930|PharmGKB:PA123 rs35773040 hCV34816082 Mis-sense Mutation cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 ATGAGGGACTTCGGGATGGGAAAGC[A/G]GAGTGTGGAGGAGCGGATTCAGGAG 46202126 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .01 0 0 0 Homo sapiens C__60142977_10 CYP1A2 CP12|P3-450|P450(PA) CYP1A2*1D,c.-2467delT|CYP1A2*1D,g.-2467delT|CYP1A2*1L,c.-2467delT|CYP1A2*1L,g.-2467delT|CYP1A2*1N,c.-2467delT|CYP1A2*1N,g.-2467delT|CYP1A2*1P,c.-2467delT|CYP1A2*1P,g.-2467delT|CYP1A2*1R,c.-2467delT|CYP1A2*1R,g.-2467delT|CYP1A2*1V,c.-2467delT|CYP1A2*1V,g.-2467delT|CYP1A2*1W,c.-2467delT|CYP1A2*1W,g.-2467delT T/- MIM:124060|PharmGKB:PA27093 rs35694136 hCV60142977 cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 TGCAGTGAGCCATGATTGTGGCACA[T/-]GAACCCCAACCTGGGTGACAGAGCA 72826666 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 .12 .48 .4 .48 Homo sapiens C__64627083_10 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI UGT1A9*3a,c.98T>C|UGT1A9*3a,g.98T>C|UGT1A9*3b,c.98T>C|UGT1A9*3b,g.98T>C C/T T33M MIM:606434|PharmGKB:PA419 hCV64627083 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A9 NM_021027 GCAGGGAAGCTACTGGTAGTGCCCA[C/T]GGATGGGAGCCACTGGTTCACCATG 234245417 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C__72649590_20 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200 C/T M66V| MIM:608547 hCV72649590 Mis-sense Mutation|Intron vitamin K epoxide reductase complex, subunit 1 NM_024006|NM_206824 CTGTCCTGTCCCAGCACATGCTCCA[C/T]CAGCCCGAAACCCCTGCCCCACCTG 31012221 NCBI Build 36.2 Human 16p1,16p11.2,16p11,16p11.2c,16p 16 0 0 0 0 Homo sapiens C___1046361_10 NR3C1 GR|GCR|GRL|GCCR A/G |||||| MIM:138040|PharmGKB:PA181 rs6196 hCV1046361 |||||| nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 GAAACAGAAGTTTTTTGATATTTCC[A/G]TTTGAATATTTTGGTATCTGATTGG 142641683 NCBI Build 36.2 Human 5q,5q31.3e,5q31.3,5q3,5q31 5 .2 .12 .11 .09 Homo sapiens C___1129864_10 PPARG NR1C3|PPARG1|PPARG2 C/G ||| MIM:601487|PharmGKB:PA281 rs1801282 hCV1129864 ||| peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 AACTCTGGGAGATTCTCCTATTGAC[C/G]CAGAAAGCGATTCCTTCACTGATAC 12368125 NCBI Build 36.2 Human 3p2,3p25,3p25.2,3p25.2a,3p 3 .18 .02 .03 .01 Homo sapiens C___1173641_10 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860 UGT1A6*2a,c.315A>G|UGT1A6*2a,g.315A>G|UGT1A6*2b,c.315A>G|UGT1A6*2b,g.315A>G|UGT1A6*2c,c.315A>G|UGT1A6*2c,g.315A>G|UGT1A6*2d,c.315A>G|UGT1A6*2d,g.315A>G|UGT1A6*2e,c.315A>G|UGT1A6*2e,g.315A>G|UGT1A6*3b,c.315A>G|UGT1A6*3b,g.315A>G|UGT1A6*4a,c.315A>G|UGT1A6*4a,g.315A>G|UGT1A6*4b,c.315A>G|UGT1A6*4b,g.315A>G|UGT1A6*4c,c.315A>G|UGT1A6*4c,g.315A>G|UGT1A6*6,c.315A>G|UGT1A6*6,g.315A>G|UGT1A6*7,c.315A>G|UGT1A6*7,g.315A>G A/G || MIM:606431|PharmGKB:PA37181 rs1105880 hCV1173641 ||Intron UDP glucuronosyltransferase 1 family, polypeptide A6 NM_001072|NM_007120|NM_205862 ATCACTTTGCTGAGCGATCATTCCT[A/G]ACTGCTCCTCAGACAGAGTACAGGA 234266704 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 .44 .38 .22 .13 Homo sapiens C___1204091_10 NAT2 AAC2 NAT2*14D,g.590G>A|NAT2*5E,g.590G>A|NAT2*5J,g.590G>A|NAT2*6A,g.590G>A|NAT2*6B,g.590G>A|NAT2*6C,g.590G>A|NAT2*6D,g.590G>A|NAT2*6E,g.590G>A A/G MIM:243400|PharmGKB:PA18 rs1799930 hCV1204091 N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 ATATACTTATTTACGCTTGAACCTC[A/G]AACAATTGAAGATTTTGAGTCTATG 18302383 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 .36 .38 .2 .31 Homo sapiens C___1204092_20 NAT2 AAC2 NAT2*11A,g.481C>T|NAT2*11B,g.481C>T|NAT2*12C,g.481C>T|NAT2*14C,g.481C>T|NAT2*5A,g.481C>T|NAT2*5B,g.481C>T|NAT2*5F,g.481C>T|NAT2*5G,g.481C>T|NAT2*5H,g.481C>T|NAT2*5I,g.481C>T|NAT2*6E,g.481C>T C/T MIM:243400|PharmGKB:PA18 rs1799929 hCV1204092 N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 GACAGAAGAGAGAGGAATCTGGTAC[C/T]TGGACCAAATCAGGAGAGAGCAGTA 18302274 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 .43 .26 0 .02 Homo sapiens C___1232182_10 ABCC11 WW|EWWD|MRP8 A/G F812F|F812F|F812F MIM:607040 rs11866251 hCV1232182 Silent Mutation|Silent Mutation|Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 TCGTTAAGAAGACGATCAGCACCAC[A/G]AAGAAGAAAATTATGCAAGAGACCA 46785363 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .13 .27 0 .08 Homo sapiens C___1329192_10 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 CYP2C9*11B,g.-1188T>C|CYP2C9*16,g.-1188T>C|CYP2C9*18,g.-1188T>C|CYP2C9*19,g.-1188T>C|CYP2C9*1B,g.-1188T>C|CYP2C9*1C,g.-1188T>C|CYP2C9*20,g.-1188T>C|CYP2C9*26,g.-1188T>C|CYP2C9*27,g.-1188T>C|CYP2C9*2A,g.-1188T>C|CYP2C9*2B,g.-1188T>C|CYP2C9*3B,g.-1188T>C C/T MIM:601130|PharmGKB:PA126 rs4918758 hCV1329192 cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 TAGTGATTTCCCTACCTCCCATCTT[C/T]TATTGCATCCACAACTGTGGTTCTG 96687242 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 .48 .29 .41 .36 Homo sapiens C___1642455_10 CYP1A2 CP12|P3-450|P450(PA) CYP1A2*15,g.5347T>C|CYP1A2*16,g.5347T>C|CYP1A2*1B,g.5347T>C|CYP1A2*1G,g.5347T>C|CYP1A2*1H,g.5347T>C|CYP1A2*1L,g.5347T>C|CYP1A2*1N,g.5347T>C|CYP1A2*1P,g.5347T>C|CYP1A2*1R,g.5347T>C|CYP1A2*1S,g.5347T>C|CYP1A2*1T,g.5347T>C|CYP1A2*1U,g.5347T>C|CYP1A2*3,g.5347T>C|CYP1A2*8,g.5347T>C T/C N516N MIM:124060|PharmGKB:PA27093 rs2470890 hCV1642455 Silent Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 AGGCGCGGCTGCGCTTCTCCATCAA[T/C]TGAAGAAGACACCACCATTCTGAGG 72834479 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 .33 .14 .24 .17 Homo sapiens C___1901690_1_ SLCO1B1 LST-1|OATP2|OATP-C|OATP1B1|SLC21A6|MGC133282 C/T MIM:604843|PharmGKB:PA35842 rs2291075 hCV1901690 solute carrier organic anion transporter family, member 1B1 NM_006446 TGGGGCTTTCTTACATTGATGATTT[C/T]GCTAAAGAAGGACATTCTTCTTTGT 21222892 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 .26 .5 .43 .48 Homo sapiens C___1901691_20 SLCO1B1 LST-1|OATP2|OATP-C|OATP1B1|SLC21A6|MGC133282 C/T MIM:604843|PharmGKB:PA35842 rs4149057 hCV1901691 solute carrier organic anion transporter family, member 1B1 NM_006446 AATAGGGGAGACTCCCATAGTACCA[C/T]TGGGGCTTTCTTACATTGATGATTT 21222866 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 .39 .23 .24 .36 Homo sapiens C___1935704_10 CHST13 C4ST3|MGC119278|MGC119279|MGC119281 C/T MIM:610124 rs1056523 hCV1935704 carbohydrate (chondroitin 4) sulfotransferase 13 NM_152889 GTCGTGGGCAAGTTCGAGACGCTGG[C/T]GGAGGACGCGGCCTTCGTGCTGGGC 127743897 NCBI Build 36.2 Human 3q,3q21.3a,3q21.3,3q2,3q21 3 .2 .17 .22 .33 Homo sapiens C__32316836_10 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200 A/C V29L|V29L MIM:608547 hCV32316836 Mis-sense Mutation|Mis-sense Mutation vitamin K epoxide reductase complex, subunit 1 NM_024006|NM_206824 CGGTCCCGGGCGCGCGCCGCCTTCA[A/C]GTGCAGCGCGTAGAGCGAGAGCACT 31013467 NCBI Build 36.2 Human 16p1,16p11.2,16p11,16p11.2c,16p 16 0 0 0 0 Homo sapiens C__32928081_40 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200 A/G A45V|A45V MIM:608547 hCV32928081 Mis-sense Mutation|Mis-sense Mutation vitamin K epoxide reductase complex, subunit 1 NM_024006|NM_206824 GCGCGAACAGCTGATGGCGGTGCCC[A/G]CGTCGCAGAGCGCGCGGTAATCCCG 31013418 NCBI Build 36.2 Human 16p1,16p11.2,16p11,16p11.2c,16p 16 0 0 0 0 Homo sapiens C___8813542_1_ ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T MIM:603201|PharmGKB:PA374 rs496550 hCV8813542 UTR 3 ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 AGAAACGTTTGTTGATTGCCTGTTA[C/T]AGACCCGCCTCTGTGTACACCGAGG 169487958 NCBI Build 36.2 Human 2q2,2q24,2q24.3,2q24.3f,2q 2 .44 .31 .49 .28 Homo sapiens C___8813544_1_ ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T MIM:603201|PharmGKB:PA374 rs473351 hCV8813544 ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 CCACTTGACATTGGGTTTTCCCTCA[C/T]ATGGACCCTAGTTTCTTTCATTTTC 169488142 NCBI Build 36.2 Human 2q2,2q24,2q24.3,2q24.3f,2q 2 .4 .31 .05 0 Homo sapiens C___8814557_1_ SULT4A1 NST|BRSTL1|SULTX3|BR-STL-1|MGC40032|DJ388M5.3|hBR-STL-1 A/G MIM:608359|PharmGKB:PA412 rs138057 hCV8814557 UTR 3 sulfotransferase family 4A, member 1 NM_014351 CCGCCCGCTGGAAGTCTCTGGCAGA[A/G]GGACGTCCATTCTGAAGACCTAGTG 42552580 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2c,22q 22 .23 .28 .05 .07 Homo sapiens C___8896480_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G | MIM:610613 rs5297 hCV8896480 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 GGTCCTAGAGGCCCTCGGGAGTTCC[A/G]TTTGTGCTGGGGCTGGTTAGACAGA 143952659 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 .06 .2 0 0 Homo sapiens C___9520092_10 SLC19A1 CHMD|FOLT|IFC1|REFC|RFC1 A/G P232P MIM:600424|PharmGKB:PA327 rs12659 hCV9520092 Silent Mutation solute carrier family 19 (folate transporter), member 1 NM_194255 CGTGTCCCAGCTTCCCGCCTGGGCC[A/G]GGATTCATGCGCTCCAGCTCCGAAG 45775984 NCBI Build 36.2 Human 21q2,21q22,21q22.3,21q22.3e,21q 21 .36 .38 .49 .43 Homo sapiens C___9581699_80 CYP2J2 CPJ2 CYP2J2*7,g.-76G>T A/C MIM:601258 rs890293 hCV9581699 cytochrome P450, family 2, subfamily J, polypeptide 2 NM_000775 GCAGGCGACGGTCCCCGCCCCGCCT[A/C]GCTCCCAGCCGTGCCCCGCCTCCCA 60165082 NCBI Build 36.2 Human 1p3,1p32,1p32.1,1p32.1c,1p 1 .06 .12 .08 .07 Homo sapiens C____385930_60 SLC15A2 PEPT2 C/T P409S MIM:602339|PharmGKB:PA35812 rs1143671 hCV385930 Mis-sense Mutation solute carrier family 15 (H+/peptide transporter), member 2 NM_021082 CTCTAAGGAAATGGCCCCAGCCCAG[C/T]CAGGTCCCCAGGAGGTTTTCCTACA 123129976 NCBI Build 36.2 Human 3q,3q13.33c,3q13.33,3q13.3,3q13,3q1 3 .46 .44 .3 .28 Homo sapiens C____572771_10 NAT2 AAC2 NAT2*14A,g.191G>A|NAT2*14B,g.191G>A|NAT2*14C,g.191G>A|NAT2*14D,g.191G>A|NAT2*14E,g.191G>A|NAT2*14F,g.191G>A|NAT2*14G,g.191G>A A/G MIM:243400|PharmGKB:PA18 rs1801279 hCV572771 N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 TTTGATCACATTGTAAGAAGAAACC[A/G]GGGTGGGTGGTGTCTCCAGGTCAAT 18301984 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 0 .06 0 0 Homo sapiens C__32316837_10 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200 C/T R58G|R58G MIM:608547 hCV32316837 Mis-sense Mutation|Mis-sense Mutation vitamin K epoxide reductase complex, subunit 1 NM_024006|NM_206824 CACGCCTCCCACTCCCGTGCACACC[C/T]GGAGGAGAAGACGCGCGAACAGCTG 31013380 NCBI Build 36.2 Human 16p1,16p11.2,16p11,16p11.2c,16p 16 0 0 0 0 Homo sapiens C__32316839_10 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200 A/C R128L|A91A MIM:608547 hCV32316839 Mis-sense Mutation|Silent Mutation vitamin K epoxide reductase complex, subunit 1 NM_024006|NM_206824 GATACAAACAATGCAGAAATCATAG[A/C]GCACGAAGAACAGGATCCAGGCCAG 31010065 NCBI Build 36.2 Human 16p1,16p11.2,16p11,16p11.2c,16p 16 0 0 0 0 Homo sapiens C__11170747_20 AHR A/G K554R MIM:600253 rs2066853 hCV11170747 Mis-sense Mutation aryl hydrocarbon receptor NM_001621 CTAGGCATTGATTTTGAAGACATCA[A/G]ACACATGCAGAATGAAAAATTTTTC 17345635 NCBI Build 36.2 Human 7p2,7p21,7p21.1,7p21.1b,7p 7 .07 .43 .45 .26 Homo sapiens C__11214910_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 C/T MIM:601107|PharmGKB:PA116 rs3740066 hCV11214910 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392 TCCTCAGAGGGATCACTTGTGACAT[C/T]GGTAGCATGGAGAAGGTAGGTGGAG 101594197 NCBI Build 36.2 Human 10q2,10q24,10q24.2,10q24.2c,10q 10 .37 .28 .18 .17 Homo sapiens C__11244994_20 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 A/G MIM:171050|PharmGKB:PA267 rs2235033 hCV11244994 Intron ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 CATTTTATTTTTTGCACCTCTAGAA[A/G]GGCAAAGGGCAAGGACAACTTACAT 87017079 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .44 .43 .3 .34 Homo sapiens C__11309430_30 GSTO1 P28|GSTTLp28|DKFZp686H13163 A/C D140A MIM:605482 rs4925 hCV11309430 Mis-sense Mutation glutathione S-transferase omega 1 NM_004832 AGAAGCCAAAATAAAGAAGACTATG[A/C]TGGCCTAAAAGAAGAATTTCGTAAA 106012779 NCBI Build 36.2 Human 10q2,10q25,10q25.1,10q25.1a,10q 10 .24 .13 .13 .09 Homo sapiens C__11372171_10 DPYD DHP|DPD|MGC70799|MGC132008 C/T MIM:274270|PharmGKB:PA145 rs1801160 hCV11372171 dihydropyrimidine dehydrogenase NM_000110 CCTGAGACAGTGTTGGTGGCTGTAA[C/T]GCCATTGGCACCACCTATGCAAGAC 97543508 NCBI Build 36.2 Human 1p2,1p21,1p21.3,1p21.3b,1p 1 .07 .03 .02 .01 Homo sapiens C__11638783_30 EPHX1 MEH|EPHX|EPOX A/G H139R MIM:132810|PharmGKB:PA27829 rs2234922 hCV11638783 Mis-sense Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 AAGCCCCCCCAGCTGCCCGCAGGCC[A/G]TACCCCGAAGCCCTTGCTGATGGTG 224093029 NCBI Build 36.2 Human 1q,1q42.12c,1q42.12,1q42.1,1q42,1q4 1 .2 .33 .1 .16 Homo sapiens C__11638787_30 EPHX1 MEH|EPHX|EPOX C/T D68D MIM:132810|PharmGKB:PA27829 rs2234698 hCV11638787 Silent Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 TCCAGGACTTACACCAGAGGATCGA[C/T]AAGTTCCGTTTCACCCCACCTTTGG 224086123 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.12,1q42.12c,1q 1 .01 .03 0 0 Homo sapiens C__11703892_10 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 A/G K504E MIM:100650|PharmGKB:PA24696 rs671 hCV11703892 Mis-sense Mutation aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 CGAGTACGGGCTGCAGGCATACACT[A/G]AAGTGAAAACTGTGAGTGTGGGACC 110726149 NCBI Build 36.2 Human 12q2,12q24,12q24.1,12q24.12,12q24.12b,12q 12 0 0 .22 .31 Homo sapiens C__11711730_20 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 C/T MIM:171050|PharmGKB:PA267 rs3842 hCV11711730 UTR 3 ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 AAAATTTATAATGCAGTTTAAACTA[C/T]GATTTCTCTCCACTTGATGATGTCT 86971302 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .16 .12 .29 .28 Homo sapiens C__11730536_1_ GPX7 GPX6|CL683|NPGPx|FLJ14777 C/T rs1970951 hCV11730536 glutathione peroxidase 7 NM_015696 AGCGAGACCTGGGCCCCCACCACTT[C/T]AACGTGCTCGCCTTCCCCTGCAACC 52845042 NCBI Build 36.2 Human 1p3,1p32.3,1p32,1p32.3d,1p 1 .16 .07 .22 .18 Homo sapiens C__11916500_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta C/T MIM:600409 rs1883322 hCV11916500 Intron peroxisome proliferator-activated receptor delta NM_006238 TCAGTAGGAGAGATCTGGGTCTCTT[C/T]TGGGACCTGAGCAGGCCTTTCCTTT 35477784 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 .26 .4 .2 .31 Homo sapiens C__12119916_1_ CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/C S65S MIM:609300 rs6163 hCV12119916 Silent Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 CTGTAGTCTTGGTGCCCATACGAAC[A/C]GAATAGATGGGGCCATATTTTTTCT 104586914 NCBI Build 36.2 Human 10q2,10q24,10q24.3,10q24.32,10q24.32b,10q 10 .39 .33 .49 .4 Homo sapiens C__15859191_30 CYP1A2 CP12|P3-450|P450(PA) CYP1A2*1C,g.-3860G>A|CYP1A2*1L,g.-3860G>A G/A MIM:124060|PharmGKB:PA27093 rs2069514 hCV15859191 cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 TGGCTCACCGCAACCTCCGCCTCTC[G/A]GATTCAAGCAATTGTCATGCCCCAG 72825273 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 .02 .29 .15 .27 Homo sapiens C__16184554_10 SLC10A1 NTCP|NTCP1 A/G MIM:182396 rs2296651 hCV16184554 solute carrier family 10 (sodium/bile acid cotransporter family), member 1 NM_003049 TGGAAAGGCCACATTGAGGATGGTG[A/G]AACAGAGTTGGACATTTTGGCATCC 69314946 NCBI Build 36.2 Human 14q2,14q24,14q24.2,14q24.2a,14q 14 0 0 .03 .13 Homo sapiens C__16187547_10 CYP4B1 CYPIVB1|P-450HP CYP4B1*2,c.1123C>T T/C | MIM:124075|PharmGKB:PA27119 rs2297809 hCV16187547 | cytochrome P450, family 4, subfamily B, polypeptide 1 NM_000779|NM_001099772 GACCATGTGCATCAAGGAGAGCTTC[T/C]GCCTCTACCCACCTGTGCCCCAGGT 47055359 NCBI Build 36.2 Human 1p3,1p33d,1p33,1p 1 .11 .17 .32 .19 Homo sapiens C__25619738_60 FMO2 FLJ40826|FMO1B1 C/T MIM:603955 rs6661174 hCV25619738 UTR 3 flavin containing monooxygenase 2 (non-functional) NM_001460 CTATTTCGGACCCTGCAACTCCTAT[C/T]AGTATCGCCTGGTTGGGCCTGGGCA 169444714 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 .15 0 0 Homo sapiens C__27102437_30 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*21A,g.310G>T|CYP2D6*2L,g.310G>T|CYP2D6*2M,g.310G>T|CYP2D6*36 Single,g.310G>T|CYP2D6*45A,g.310G>T|CYP2D6*45B,g.310G>T|CYP2D6*46,g.310G>T|CYP2D6*4N,g.310G>T|CYP2D6*56B,g.310G>T|CYP2D6*57,g.310G>T|CYP2D6*58,g.310G>T A/C | MIM:124030|PharmGKB:PA128 rs28371699 hCV27102437 Intron|Intron cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 CATGTATAAATGTCCTTCCCCAGGA[A/C]GTCCCCCAAACCTGCTTCCCCTTCT 40856428 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2b,22q 22 0 0 0 0 Homo sapiens C__27102444_80 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*35,g.31G>A|CYP2D6*35X2,g.31G>A C/T M11V|M11V MIM:124030|PharmGKB:PA128 rs769258 hCV27102444 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 AGGAGCAGGAAGATGGCCACTATCA[C/T]GGCCAGGGGCACCAGTGCTTCTAGC 40856707 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2b,22q 22 .07 .01 0 0 Homo sapiens C__27528606_20 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 UGT1A1*7,c.1456T>G G/T D486Y||D487Y|D483Y|D483Y|D483Y|D487Y|D487Y|D483Y|D218Y MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 rs34993780 hCV27528606 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 AGCCCACGACCTCACCTGGTACCAG[G/T]ACCATTCCTTGGACGTGATTGGTTT 234345798 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 .01 Homo sapiens C__27529440_20 NAT1 AAC1|NATI NAT1*15,g.559C>T C/T R187* MIM:108345|PharmGKB:PA17 rs5030839 hCV27529440 Nonsense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662 TGATCTCCTAGAAGACAGCAAATAC[C/T]GAAAAATCTACTCCTTTACTCTTAA 18124395 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 0 0 0 0 Homo sapiens C__27827970_40 UGT2B7 UGT2B9 UGT2B7*2b,c.-161C>T|UGT2B7*2b,g.-161C>T|UGT2B7*2c,c.-161C>T|UGT2B7*2c,g.-161C>T|UGT2B7*2d,c.-161C>T|UGT2B7*2d,g.-161C>T|UGT2B7*2f,c.-161C>T|UGT2B7*2f,g.-161C>T C/T MIM:600068|PharmGKB:PA361 rs7668258 hCV27827970 UDP glucuronosyltransferase 2 family, polypeptide B7 NM_001074 CAGATCATTTACCTTCATTTGTCTC[C/T]TTGCCATCCACATGCTCAGACTGTT 69996667 NCBI Build 36.2 Human 4q1,4q13,4q13.2,4q13.2c,4q 4 .42 .36 .29 .27 Homo sapiens C__27474564_70 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 A/G MIM:601131 rs3740367 hCV27474564 UTR 3 cytochrome P450, family 2, subfamily C, polypeptide 18 NM_000772 GCAATTCTCCCTTATCAGGGCCATT[A/G]GCCTCTCCCTTCTCTCTGTGAGGGA 96485256 NCBI Build 36.2 Human 10q,10q23.33c,10q23.33,10q23.3,10q23,10q2 10 .08 .05 .06 .01 Homo sapiens C__27476471_20 CHST10 HNK1ST|HNK-1ST|MGC17148 C/T N258D MIM:606376 rs3748932 hCV27476471 Mis-sense Mutation carbohydrate sulfotransferase 10 NM_004854 TACGTCACCCAGTGAATGATGTGGT[C/T]CCCAAACTGAAGGTCTAGCCATCTG 100376438 NCBI Build 36.2 Human 2q,2q11.2d,2q11.2,2q1,2q11 2 0 0 0 0 Homo sapiens C__27478235_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T K757E MIM:605250|PharmGKB:PA397 rs3765534 hCV27478235 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 AAGTACCAGTTAAGATCTAGCTTCT[C/T]GGTTACATTTCCTCCTCCATTTACA 94613416 NCBI Build 36.2 Human 13q,13q32.1,13q32,13q32.1a,13q3 13 .02 0 .23 .04 Homo sapiens C__27480650_10 ALDH5A1 SSDH|SSADH C/T P182L|P182L MIM:610045 rs3765310 hCV27480650 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) NM_001080|NM_170740 GTTTACGGAGACATTATCCACACCC[C/T]GGCAAAGGACAGGCGGGCCCTGGTC 24611576 NCBI Build 36.2 Human 6p,6p22.2b,6p22.2,6p22,6p2 6 .01 0 .07 .05 Homo sapiens C__27482094_60 TYMS TS|TMS|TSase|HsT422|MGC88736 A/G E127E MIM:188350|PharmGKB:PA359 rs3786362 hCV27482094 Silent Mutation thymidylate synthetase NM_001071 ACAGCCTGGGATTCTCCACCAGAGA[A/G]GAAGGGGACTTGGGCCCAGTTTATG 652247 NCBI Build 36.2 Human 18p,18p11.32,18p11,18p11.32c,18p11.3,18p1 18 0 0 .1 .21 Homo sapiens C__27487486_10 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 A/G MIM:171050|PharmGKB:PA267 rs3213619 hCV27487486 UTR 5 ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 CTTCTTTGAGCTTGGAAGAGCCGCT[A/G]CTCGAATGAGCTCAGGCTTCCTGTG 87068129 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 .07 .07 .05 .01 Homo sapiens C__27471011_20 SLC29A1 ENT1|MGC1465|MGC3778 A/C |||| MIM:602193|PharmGKB:PA154 rs3734703 hCV27471011 |||| solute carrier family 29 (nucleoside transporters), member 1 NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 CTCCTCCTCTGTGTTCTCTCCATGT[A/C]CCCCTCCCAACTCCCCATGCCCAGT 44309712 NCBI Build 36.2 Human 6p,6p21.1b,6p21.1,6p21,6p2 6 0 0 .22 .37 Homo sapiens C__27471394_30 EPHX1 MEH|EPHX|EPOX G/T MIM:132810|PharmGKB:PA27829 rs3738039 hCV27471394 UTR 5 epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 TGGGGAGTGGGGGCCAGTGCCTGCA[G/T]CCTGCCCTGCCTCTCTCACAGGCCC 224079660 NCBI Build 36.2 Human 1q,1q42.12c,1q42.12,1q42.1,1q42,1q4 1 0 0 0 0 Homo sapiens C__27471650_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 C/G MIM:601107|PharmGKB:PA116 rs3740071 hCV27471650 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392 CTATGGGCTGATATCCAGTGTGGAA[C/G]AGATCCCCGAAGATGCAGCCTCCAT 101580110 NCBI Build 36.2 Human 10q,10q24.2c,10q24.2,10q24,10q2 10 0 0 0 0 Homo sapiens C__27471651_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 A/G MIM:601107|PharmGKB:PA116 rs3740072 hCV27471651 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392 ATTCAGAATGGCACCATAAAGGACA[A/G]CATCCTTTTTGGAACAGAGTTTAAT 101567113 NCBI Build 36.2 Human 10q,10q24.2c,10q24.2,10q24,10q2 10 0 0 0 0 Homo sapiens C__27471754_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*23,c.1375A>G|CYP2B6*23,g.25421A>G A/G M459V MIM:123930|PharmGKB:PA123 rs3211369 hCV27471754 Mis-sense Mutation cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 CACCACCATCCTCCAGAACTTCTCC[A/G]TGGCCAGCCCCGTGGCCCCAGAAGA 46214471 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__27472142_10 CYP1A2 CP12|P3-450|P450(PA) A/G K44E MIM:124060|PharmGKB:PA27093 rs3743482 hCV27472142 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 CCCCAAAGGCCTGAAAAGTCCACCA[A/G]AGCCATGGGGCTGGCCCTTGCTCGG 72829262 NCBI Build 36.2 Human 15q,15q24.1b,15q24,15q24.1,15q2 15 0 0 0 0 Homo sapiens C__27473280_30 CHST10 HNK1ST|HNK-1ST|MGC17148 A/G G245G MIM:606376 rs3748931 hCV27473280 Silent Mutation carbohydrate sulfotransferase 10 NM_004854 GGTCTAGCCATCTGTGGTTCGGATC[A/G]CCGAGGTAGCGCACGAAATCTTCAA 100376475 NCBI Build 36.2 Human 2q,2q11.2d,2q11.2,2q1,2q11 2 0 0 .03 .03 Homo sapiens C__27473296_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/C MIM:600409 rs3734253 hCV27473296 UTR 3 peroxisome proliferator-activated receptor delta NM_006238 TGGCCTCACATCCCCCTGCTCCTTT[A/C]TCTAGCTGGCTCCACGGGAGTTCAG 35502939 NCBI Build 36.2 Human 6p,6p21.31c,6p21.31,6p21,6p21.3,6p2 6 0 0 0 .01 Homo sapiens C__27474189_30 EPHX1 MEH|EPHX|EPOX C/G T43R MIM:132810|PharmGKB:PA27829 rs3738046 hCV27474189 Mis-sense Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 GGGCCAGGCACGAGGTCCGCAGCCA[C/G]GGAGGACGACAGCATCCGCCCTTTC 224083181 NCBI Build 36.2 Human 1q,1q42.12c,1q42.12,1q42.1,1q42,1q4 1 0 0 0 .01 Homo sapiens C__30634056_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T || MIM:171060|PharmGKB:PA268 rs8187787 hCV30634056 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 CAGTATCAACAAATTTGTCAGTCAT[C/T]TCTCCAAATACTATCATCATGAGGG 86930056 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 0 0 0 0 Homo sapiens C__30634057_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || MIM:171060|PharmGKB:PA268 rs8187791 hCV30634057 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 AGCTTTCACATACCTTTGCCCAAAC[A/G]GCTGCAGAGAGTCCTAGAATAGGGC 86918887 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 0 0 0 .01 Homo sapiens C__30634065_10 CYP4F2 CPF2 A/G N112N MIM:604426 rs8110714 hCV30634065 Silent Mutation cytochrome P450, family 4, subfamily F, polypeptide 2 NM_001082 AGCTGTTCCAGATGGTACCTGAGGC[A/G]TTGATGACAGACCGGATGATGTCGG 15867323 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 .01 .09 0 .03 Homo sapiens C__30634069_10 CYP1B1 CP1B|GLC3A C/G L27L MIM:601771|PharmGKB:PA27094 rs4987135 hCV30634069 Silent Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 CCACATGCACAGTGGCCAGCACCGA[C/G]AGGAGTAGCAGGAGCGTGGTCTGCT 38155955 NCBI Build 36.2 Human 2p,2p22.2a,2p22.2,2p22,2p2 2 0 0 0 0 Homo sapiens C__30634071_10 SLC28A1 CNT1|HCNT1 C/T L42L|L42L MIM:606207|PharmGKB:PA387 rs17222302 hCV30634071 Silent Mutation|Silent Mutation solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 NM_004213|NM_201651 GGAAGGCCAGCTCCCTAGGAGTGAC[C/T]TGAGCCCCGCAGAGATCAGGAGCAG 83233034 NCBI Build 36.2 Human 15q,15q25.3a,15q25.3,15q25,15q2 15 .01 .01 .01 0 Homo sapiens C__30634076_10 UGT2A1 C/T MIM:604716 rs4148310 hCV30634076 UDP glucuronosyltransferase 2 family, polypeptide A1 NM_006798 ATTTTTGACAGGAAAACAAACAACA[C/T]TGTATGACCAAAAATATAGCCGTTG 70489739 NCBI Build 36.2 Human 4q,4q13.3,4q13.3a,4q13,4q1 4 0 0 0 0 Homo sapiens C__30634077_10 SLC22A1 OCT1|HOCT1|oct1_cds C/T | MIM:602607|PharmGKB:PA329 rs34108432 hCV30634077 UTR 3|UTR 3 solute carrier family 22 (organic cation transporter), member 1 NM_003057|NM_153187 TGAGAGAGATGTTTTGCGGCGATGT[C/T]GTGTTGGAGGGATGAAGATGGAGTT 160499627 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 0 0 0 0 Homo sapiens C__30634078_10 SLC22A1 OCT1|HOCT1|oct1_cds A/C S549S| MIM:602607|PharmGKB:PA329 rs16891138 hCV30634078 Silent Mutation|UTR 3 solute carrier family 22 (organic cation transporter), member 1 NM_003057|NM_153187 CGATTTACCTTAAGGTCCAAACCTC[A/C]GAACCCTCGGGCACCTGAGAGAGAT 160499586 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 0 .03 0 0 Homo sapiens C__30634080_20 SLC22A1 OCT1|HOCT1|oct1_cds A/G R465G| MIM:602607|PharmGKB:PA329 rs34059508 hCV30634080 Mis-sense Mutation|Intron solute carrier family 22 (organic cation transporter), member 1 NM_003057|NM_153187 TCCTTTGTATTTTATCAGGAACCTC[A/G]GAGTGATGGTGTGTTCCTCCCTGTG 160495827 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 .03 0 0 0 Homo sapiens C__30634081_10 SLC22A1 OCT1|HOCT1|oct1_cds A/G I461V|I461V MIM:602607|PharmGKB:PA329 rs34295611 hCV30634081 Mis-sense Mutation|Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 1 NM_003057|NM_153187 GAATGCTGAGCTGTACCCCACATTC[A/G]TCAGGTGAGTGCATGGAACAGGGGT 160484667 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 0 .02 0 0 Homo sapiens C__30634082_20 SLC22A1 OCT1|HOCT1|oct1_cds A/G I440M|I440M MIM:602607|PharmGKB:PA329 rs35956182 hCV30634082 Mis-sense Mutation|Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 1 NM_003057|NM_153187 TCATAATCATGTGTGTTGGCCGAAT[A/G]GGAATCACCATTGCAATACAAATGA 160484606 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 0 .01 0 0 Homo sapiens C__30634084_10 SLC22A1 OCT1|HOCT1|oct1_cds C/T I403I|I403I MIM:602607|PharmGKB:PA329 rs35373824 hCV30634084 Silent Mutation|Silent Mutation solute carrier family 22 (organic cation transporter), member 1 NM_003057|NM_153187 TCACCATTGACCGCGTGGGCCGCAT[C/T]TACCCCATGGCCATGTCAAATTTGT 160480822 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 0 .01 0 0 Homo sapiens C__30634086_10 SLC22A1 OCT1|HOCT1|oct1_cds A/G H342R|H342R MIM:602607|PharmGKB:PA329 rs34205214 hCV30634086 Mis-sense Mutation|Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 1 NM_003057|NM_153187 TTTGCAGACCTGTTCCGCACGCCGC[A/G]CCTGAGGAAGCGCACCTTCATCCTG 160477636 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 0 .02 0 0 Homo sapiens C__30634087_10 SLC22A1 OCT1|HOCT1|oct1_cds C/G R287G|R287G MIM:602607|PharmGKB:PA329 rs4646278 hCV30634087 Mis-sense Mutation|Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 1 NM_003057|NM_153187 TCGCAGGTGTGTGCCGGAGTCCCCT[C/G]GGTGGCTGTTATCACAAAAAAGAAA 160477261 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 0 0 0 0 Homo sapiens C__27540424_10 CHST6 MCDC1 A/G MIM:605294 hCV27540424 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 ACTGCAGGCGGGTGGCGAGCACAGT[A/G]CACGGCTCACGGCCCACTGGAAGAG 74070845 NCBI Build 36.2 Human 16q,16q23,16q23.1a,16q23.1,16q2 16 0 0 0 0 Homo sapiens C__27540458_10 ATP7A MK|MNK|RP3-465G10.1 G/T MIM:300011|PharmGKB:PA72 hCV27540458 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 TGTGGCCCTGATGGCTGGCAAGGCA[G/T]AAGTAAGGTATAATCCTGCTGTTAT 77145267 NCBI Build 36.2 Human Xq,Xq21,Xq21.1a,Xq2,Xq21.1 X 0 0 0 0 Homo sapiens C__27540521_20 ALDH5A1 SSDH|SSADH C/T R412*|R425* MIM:610045 hCV27540521 Nonsense Mutation|Nonsense Mutation aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) NM_001080|NM_170740 TGCCACCGTTGTGACAGGTGGAAAA[C/T]GACACCAACTTGGAAAAAATTTCTT 24636264 NCBI Build 36.2 Human 6p,6p22.2b,6p22.2,6p22,6p2 6 0 0 0 0 Homo sapiens C__27540552_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || MIM:171060|PharmGKB:PA268 hCV27540552 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 ATATTCTTTTGATATGACTAGAGTG[A/G]ATCCATACCAGAAGGCCAGTGCATA 86914332 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 0 0 0 0 Homo sapiens C__27540617_30 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 C/T *17W MIM:609300 hCV27540617 Nonsense Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 TGGCACCAGGGCACCTTCTCTTGGG[C/T]CAAAACAAATAAGCTAGGGTAAGCA 104587058 NCBI Build 36.2 Human 10q,10q24.32b,10q24.32,10q24.3,10q24,10q2 10 0 0 0 0 Homo sapiens C__27540641_20 CYP27A1 CTX|CP27|CYP27 C/T R479C MIM:606530 hCV27540641 Mis-sense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 CTATGGGGTCCGGGCCTGCCTGGGC[C/T]GCAGGATTGCAGAGCTGGAGATGCA 219387683 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 0 0 0 Homo sapiens C__27536961_20 CYP27A1 CTX|CP27|CYP27 C/T R231* MIM:606530 hCV27536961 Nonsense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 CGAGAAACGCATTGGCTGCCTGCAG[C/T]GATCCATCCCCGAGGACACCGTGAC 219385563 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 0 0 0 Homo sapiens C__27536686_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 C/T H347R MIM:609300 hCV27536686 Mis-sense Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 GGCCTCCAGCAGGAGGAGACGGTTA[C/T]GGTCACTGATAGTTGGTGTGCGGCT 104582357 NCBI Build 36.2 Human 10q,10q24.32b,10q24.32,10q24.3,10q24,10q2 10 0 0 0 0 Homo sapiens C__27536971_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 G/T R106L|R106L MIM:609523 hCV27536971 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 CAGCCACAGCCTCTGGGAGTGGTGC[G/T]GATAATCGGAGCTTGGAATTACCCC 19495615 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C__27537007_10 CYP1B1 CP1B|GLC3A CYP1B1*23,g.4342C>T A/G P437L MIM:601771|PharmGKB:PA27094 hCV27537007 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 GAATCGAGCTGGATCAAAGTTCTCC[A/G]GGTTAGGCCACTTCACTGGGTCATG 38151691 NCBI Build 36.2 Human 2p,2p22.2a,2p22.2,2p22,2p2 2 0 .01 0 0 Homo sapiens C__27537008_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/G P335R MIM:609506 rs28934606 hCV27537008 Mis-sense Mutation cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 GAGTGCTGTCTGGACTTCGGGGTGC[C/G]GGGAGAGCTCATACAGAGCCCAAGA 56444560 NCBI Build 36.2 Human 12q,12q14.1,12q14,12q14.1a,12q1 12 0 0 0 0 Homo sapiens C__27537009_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/G P497R MIM:609506 hCV27537009 Mis-sense Mutation cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 AAACTGTAGGTTGATGCTCCTTTCA[C/G]GTACCAGGACAGTCCGGGTCTTGGG 56443229 NCBI Build 36.2 Human 12q,12q14.1,12q14,12q14.1a,12q1 12 0 0 0 0 Homo sapiens C__27537107_20 CYP7B1 CP7B A/G R388* MIM:603711 hCV27537107 Nonsense Mutation cytochrome P450, family 7, subfamily B, polypeptide 1 NM_004820 AAGATGGCTACCAAGTCTCCCTTTC[A/G]CACACAGTAGTCCCCGGTCTCTGAA 65679864 NCBI Build 36.2 Human 8q,8q12.3c,8q12.3,8q12,8q1 8 0 0 0 0 Homo sapiens C__27537317_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha A/G P143L MIM:609506 hCV27537317 Mis-sense Mutation cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 GGCCGCTTGAGGCCGGAGGAGGAGC[A/G]GGGCCAGGAGACTGCGGAGCCTTTG 56445508 NCBI Build 36.2 Human 12q,12q14.1,12q14,12q14.1a,12q1 12 0 0 0 0 Homo sapiens C__27537324_20 NAT2 AAC2 NAT2*17,g.434A>C A/C MIM:243400|PharmGKB:PA18 hCV27537324 N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 TTAATTTCTGGGAAGGATCAGCCTC[A/C]GGTGCCTTGCATTTTCTGCTTGACA 18302227 NCBI Build 36.2 Human 8p,8p22a,8p22,8p2 8 0 0 0 0 Homo sapiens C__27540170_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*19,c.1399 C>T|CYP3A4*19,c.1399C>T|CYP3A4*19,g.23237C>T A/G P467S MIM:124010|PharmGKB:PA130 rs4986913 hCV27540170 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 TGACTAACCTGTGTTTCTTTACAAG[A/G]TTTGAAGGAGAAGTTCTGAAGGACT 99196395 NCBI Build 36.2 Human 7q,7q22.1b,7q22.1,7q22,7q2 7 0 0 0 0 Homo sapiens C__27540172_30 EPHX1 MEH|EPHX|EPOX A/G *97W MIM:132810|PharmGKB:PA27829 rs4986931 hCV27540172 Nonsense Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 TACCTGAAGAAAGTCATCTCCTACT[A/G]GCGGAATGAATTTGACTGGAAGAAG 224086209 NCBI Build 36.2 Human 1q,1q42.12c,1q42.12,1q42.1,1q42,1q4 1 0 0 0 0 Homo sapiens C__27540181_10 NAT1 AAC1|NATI NAT1*11A,g.-40A>T|NAT1*11B,g.-40A>T|NAT1*11C,g.-40A>T A/T MIM:108345|PharmGKB:PA17 rs4986989 hCV27540181 Intron N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662 TACTCAAATCCAAGTGTAAAAGTAA[A/T]ATGATTTGCTTTCGTTTTGTTTTCC 18123797 NCBI Build 36.2 Human 8p,8p22a,8p22,8p2 8 .01 0 0 0 Homo sapiens C__27536925_50 TPMT A/C E98* MIM:187680|PharmGKB:PA356 hCV27536925 Nonsense Mutation thiopurine S-methyltransferase NM_000367 GAAAGATTCTGCTCTGTAAAAAATT[A/C]TTGTATCCCAAGTTCACTGATTTCC 18251880 NCBI Build 36.2 Human 6p,6p22.3d,6p22,6p22.3,6p2 6 0 0 0 0 Homo sapiens C__27540272_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 G/T *426L|*426L MIM:609523 hCV27540272 Nonsense Mutation|Nonsense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 ACTTTTTCTCATCAGCGTCCCTGTT[G/T]ATTAAAAAGTTTAAAGAGAGAAGGT 19515695 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C__27540374_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T D1279G|D1072G MIM:606882 hCV27540374 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GCCGGTGCCAATGGCCACACCCATG[C/T]CTGCCTGGGCCAAGGCCGGGGAGTC 51409680 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 0 0 0 0 Homo sapiens C__27540398_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 G/T *105S|*105S MIM:606882 hCV27540398 Nonsense Mutation|Nonsense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GCAAACCTGTTGCAGGCACACAACC[G/T]ATGGCACATATTTCACAGTGGCACT 51447043 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 0 0 0 0 Homo sapiens C__25625805_10 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 CYP2C9*2A,c.430C>T|CYP2C9*2A,g.3608C>T|CYP2C9*2B,c.430C>T|CYP2C9*2B,g.3608C>T|CYP2C9*2C,c.430C>T|CYP2C9*2C,g.3608C>T C/T R144C PharmGKB:PA126|MIM:601130 rs1799853 hCV25625805 Mis-sense Mutation cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 GATGGGGAAGAGGAGCATTGAGGAC[C/T]GTGTTCAAGAGGAAGCCCGCTGCCT 96692037 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 .17 .02 0 0 Homo sapiens C__25745302_30 CYP2C19 CPCJ|CYP2C|CYP 2C|P450C2C|P450IIC19|RP11-400G3.4 CYP2C19*9,c.431G>A|CYP2C19*9,g.12784G>A A/G H144R MIM:124020|PharmGKB:PA124 rs17884712 hCV25745302 Mis-sense Mutation cytochrome P450, family 2, subfamily C, polypeptide 19 NM_000769 ATGGGGAAGAGGAGCATTGAGGACC[A/G]TGTTCAAGAGGAAGCCCGCTGCCTT 96525236 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 0 .03 0 0 Homo sapiens C__26823966_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*10,c.216G>C|CYP2B6*10,g.12740G>C|CYP2B6*2B,c.216G>C|CYP2B6*2B,g.12740G>C C/G P72P MIM:123930|PharmGKB:PA123 rs2279341 hCV26823966 Silent Mutation cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 ACGTCTTCACGGTACACCTGGGACC[C/G]AGGCCCGTGGTCATGCTGTGTGGAG 46201790 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .06 .04 .06 .02 Homo sapiens C___8393861_20 DPYD DHP|DPD|MGC70799|MGC132008 A/G MIM:274270|PharmGKB:PA145 rs1801266 hCV8393861 dihydropyrimidine dehydrogenase NM_000110 AAATTCACTACATCATACGGCAGCC[A/G]GAACTGAGGAATTTCAGAAGTACTG 97929920 NCBI Build 36.2 Human 1p2,1p21,1p21.3,1p21.3b,1p 1 0 0 0 0 Homo sapiens C___8570123_30 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 A/C M474L||M475L|M471L|M471L|M471L|M475L|M475L|M471L|M206L MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 hCV8570123 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 GATGAGGCACAAGGGCGCGCCACAC[A/C]TGCGCCCCGCAGCCCACGACCTCAC 234345762 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C___8649636_30 GSTA4 GTA4|GSTA4-4|DKFZp686D21185|RP1-214M20.1 C/T MIM:605450 rs405729 hCV8649636 UTR 3 glutathione S-transferase A4 NM_001512 CTCATAAATTCTTTATTTTGGCTAA[C/T]ACTGATTGCATTCATTACTACCATT 52950740 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 .43 .44 .2 .28 Homo sapiens C___8683989_40 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 G/T |*1202Y MIM:605251 rs1053351 hCV8683989 |Nonsense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 5 NM_001023587|NM_005688 TTAGGACGAGAGGGAGGTTTTCTCG[G/T]TACCTCATCTCTGCGTTCTCAAAGG 185143297 NCBI Build 36.2 Human 3q2,3q27,3q27.1,3q27.1b,3q 3 0 0 0 0 Homo sapiens C___8698542_10 FMO3 FMOII|MGC34400|dJ127D3.1 C/T S147S|S147S MIM:136132 rs1800822 hCV8698542 Silent Mutation|Silent Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TCTTTGATGCTGTAATGGTTTGTTC[C/T]GGACATCATGTGTATCCCAACCTAC 169343559 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .06 .13 .23 .19 Homo sapiens C___8698543_10 FMO3 FMOII|MGC34400|dJ127D3.1 C/T F239F|F239F MIM:136132 rs1050902 hCV8698543 Silent Mutation|Silent Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 GGGACATGCTGCTCGTCACTCGATT[C/T]GGAACCTTCCTCAAGAACAATTTAC 169346652 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 0 0 0 Homo sapiens C___8698544_30 FMO3 FMOII|MGC34400|dJ127D3.1 A/G M257V|M257V MIM:136132 rs1736557 hCV8698544 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 GACAGCCATCTCTGACTGGTTGTAC[A/G]TGAAGCAGATGAATGCAAGATTCAA 169346704 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .08 .03 .17 .17 Homo sapiens C___8698554_10 FMO3 FMOII|MGC34400|dJ127D3.1 A/G I486M|I486M MIM:136132 rs1050906 hCV8698554 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 AGTGGCCAGGAGCCAGAAATGCCAT[A/G]CTGACCCAGTGGGACCGGTCGTTGA 169353065 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 0 0 0 Homo sapiens C___8698563_30 FMO6P FMO6|FLJ27001|RP1-127D3.2 C/T rs1736565 hCV8698563 flavin containing monooxygenase 6 pseudogene AAAGAAGGATCTTTTAAGATACATA[C/T]AGTTTGAGGTAGGGGTCTCATAACT 169379114 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .42 .28 .38 .44 Homo sapiens C___8698580_30 FMO1 A/G V396V MIM:136130 rs1126692 hCV8698580 Silent Mutation flavin containing monooxygenase 1 NM_002021 GTTTTTATTTTAATCCTACAGGTGT[A/G]AATAAGTTACCACCACCAAGTGTCA 169518911 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .14 .43 0 .05 Homo sapiens C___8698591_30 FMO4 FMO2 C/T A323V MIM:136131 rs1042767 hCV8698591 Mis-sense Mutation flavin containing monooxygenase 4 NM_002022 GGGACAGTGGAAGAAAACATTGATG[C/T]TGTGATCTTCACTACAGGATATACA 169570314 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .01 .19 0 0 Homo sapiens C___8699206_20 CHST11 C4ST|C4ST1|C4ST-1|HSA269537 A/G MIM:610128 rs1565814 hCV8699206 carbohydrate (chondroitin 4) sulfotransferase 11 NM_018413 GTGGACTATTTGTACACATACACAC[A/G]TGCACACCCTCTCACGTCCTCCAGA 103677090 NCBI Build 36.2 Human 12q2,12q23,12q23.3,12q23.3b,12q 12 .03 .02 .2 .14 Homo sapiens C___8709389_20 SLC22A2 OCT2|MGC32628 C/T K463R MIM:602608|PharmGKB:PA331 rs3907239 hCV8709389 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 2 NM_003058 GTCATTCTAAGGAAAATGCACTCAC[C/T]TAATGAATGTGGGGTACAGCTCAGC 160583316 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 0 0 0 0 Homo sapiens C___8713998_80 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/C A406S|A406S MIM:606882 rs1801243 hCV8713998 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 CTGAGTTCTTCTGGGCTAATTACAG[A/C]GGGATTATAAAGAACTGTTGCAGTC 51446141 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 .48 .19 .49 .47 Homo sapiens C___8714062_30 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T | MIM:606882 rs1051332 hCV8714062 UTR 3|UTR 3 ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GCTCTGAGAGCCACTGCCAGGTAAA[C/T]AGATGCTCCCTTCGGGGTGCTGTGG 51405721 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 .46 .13 .35 .32 Homo sapiens C___8714147_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/G | MIM:606882 rs928169 hCV8714147 UTR 3|UTR 3 ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GCGGAAATGTGCTGCGGGCTGGAGT[C/G]GGGGGGCTGAAAACAAGGAAAACAC 51405111 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 .46 .5 .36 .44 Homo sapiens C___8717067_10 GSTT2 hCG_41095 A/G MIM:600437 hCV8717067 glutathione S-transferase theta 2 NM_000854 AGGTGGAACGCAACAGGACTGCCAT[A/G]GACCAGGCCCTGCAATGGCTGGAGG 22655127 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.23,22q11.23b,22q 22 .01 .11 .18 .17 Homo sapiens C___8717129_20 GSTT2 hCG_41095 C/T MIM:600437 hCV8717129 glutathione S-transferase theta 2 NM_000854 AGCCACTGCCCATTTGTTCCCAGCT[C/T]GGCCATCCTGATTTACCTGAGCTGT 22654821 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.23,22q11.23b,22q 22 0 0 0 0 Homo sapiens C___8717739_20 GSTT1 C/T T21A MIM:600436|PharmGKB:PA183 rs2266635 hCV8717739 Mis-sense Mutation glutathione S-transferase theta 1 NM_000853 TCGAAGGGAATGTCGTTCTTCTTGG[C/T]AAAGATGTAAACAGCGCGGCAGGGC 22714171 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.23,22q11.23b,22q 22 0 0 0 0 Homo sapiens C___8717759_20 GSTT1 C/T V118V MIM:600436|PharmGKB:PA183 rs2266636 hCV8717759 Silent Mutation glutathione S-transferase theta 1 NM_000853 GCTCACCCAGGAAAACAGGGAACAT[C/T]ACCTGGGGATTGGGCAGGCAAAGTC 22706996 NCBI Build 36.2 Human 22q,22q11.23b,22q11.23,22q11.2,22q1,22q11 22 0 0 0 0 Homo sapiens C___8717769_10 GSTT1 C/T N141D MIM:600436|PharmGKB:PA183 rs2266633 hCV8717769 Mis-sense Mutation glutathione S-transferase theta 1 NM_000853 TCCTCGAGCAACTGCAGGGTCACAT[C/T]CAACTCTGCCAGGGTGGCTGCCAGT 22706929 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.23,22q11.23b,22q 22 0 0 0 0 Homo sapiens C___8717770_20 GSTT1 C/T I169V MIM:600436|PharmGKB:PA183 rs2266637 hCV8717770 Mis-sense Mutation glutathione S-transferase theta 1 NM_000853 ACATGCATCAGCTCCGTGATGGCTA[C/T]GAGGTCAGCTAAGGAGATGTGAGGA 22706845 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.23,22q11.23b,22q 22 0 .14 0 0 Homo sapiens C__25989417_10 ABCC13 PRED6|C21orf73 C/T MIM:608835 hCV25989417 ATP-binding cassette, sub-family C (CFTR/MRP), member 13 TCAAAGTGTTTGCTGATATTTTGTC[C/T]TTCACTAGCCCACTCATAATGAAGT 14582715 NCBI Build 36.2 Human 21q1,21q11,21q11.2,21q11.2c,21q 21 0 0 0 0 Homo sapiens C__25990272_30 CYP4F2 CPF2 C/T P55P MIM:604426 rs3093106 hCV25990272 Silent Mutation cytochrome P450, family 4, subfamily F, polypeptide 2 NM_001082 GGTGTCCCCAAAACCAGTTCCGTCT[C/T]GGGGGTTGTGGGAAACACCGAAGGC 15869257 NCBI Build 36.2 Human 19p13,19p1,19p13.1,19p13.12,19p13.12a,19p 19 .21 .3 .09 .13 Homo sapiens C__25991703_20 ABCC11 WW|EWWD|MRP8 C/T Q228Q|Q228Q|Q228Q MIM:607040 rs16945974 hCV25991703 Silent Mutation|Silent Mutation|Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 CTGCTCGGAACCTGATGGCTGTGCG[C/T]TGGTTGATGATCCAACTGGAGGAGA 46814103 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .06 .3 0 .08 Homo sapiens C__25992344_20 ABCC11 WW|EWWD|MRP8 C/T Q995R|Q995R|Q995R MIM:607040 hCV25992344 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 GAGGATGTGGGAGAATAAAGGAGAC[C/T]GGCTATAGTTCTCCAGTCTCTTGAA 46778452 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .04 0 0 Homo sapiens C__25992439_20 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 C/T P476P||P477P|P473P|P473P|P473P|P477P|P477P|P473P|P208P MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 rs28900406 hCV25992439 Silent Mutation||Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 ACAAGGGCGCGCCACACCTGCGCCC[C/T]GCAGCCCACGACCTCACCTGGTACC 234345770 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 .04 0 0 Homo sapiens C__25992470_20 ABCC11 WW|EWWD|MRP8 C/T H1344R|H1344R|H1306R MIM:607040 rs16945916 hCV25992470 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 CTTCCCATTGCCCATAACCAGGATG[C/T]GGTCACAGTTCAGCACAGTGGTGAC 46758933 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .12 .34 0 .08 Homo sapiens C__25993022_20 ABCC11 WW|EWWD|MRP8 C/T K529E|K529E|K529E MIM:607040 hCV25993022 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 ACCTTGGACACCACCAGGTTGATCT[C/T]GTGCAACTCTGGGCCCAGGCTGTTC 46802383 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 0 0 0 Homo sapiens C__25993390_20 ABCC11 WW|EWWD|MRP8 C/T K886K|K886K|K886K MIM:607040 rs12443685 hCV25993390 Silent Mutation|Silent Mutation|Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 GGGCCGTGGATGCCTTCCTCGTGAC[C/T]TTGGTGAAAATCCCTGAGGAGCAGA 46783980 NCBI Build 36.2 Human 16q,16q12.1a,16q12,16q12.1,16q1 16 .23 .1 .01 .02 Homo sapiens C__25993765_20 ABCC11 WW|EWWD|MRP8 C/T I491V|I491V|I491V MIM:607040 hCV25993765 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 CTCTCCAGCTCCAGTGCCCCATTGA[C/T]GATCCCGGGACAGGTCTGTTGCCAT 46802497 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .06 0 0 Homo sapiens C__25995016_20 ALDH6A1 MMSDH|MMSADHA|MGC40271 C/T E212E MIM:603178 rs8008790 hCV25995016 Silent Mutation aldehyde dehydrogenase 6 family, member A1 NM_005589 GAAGCATAGTTGCTCCAGGGACTCG[C/T]TCAGATGGTTTCATTAGGAAGGTAT 73607745 NCBI Build 36.2 Human 14q2,14q24,14q24.3,14q24.3a,14q 14 0 .03 0 0 Homo sapiens C__25995345_10 ABCC11 WW|EWWD|MRP8 C/T I648V|I648V|I648V MIM:607040 rs16945930 hCV25995345 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 AGGTAGATCTGACGGTCGGAATAGA[C/T]GGCGCGGGCCAGGCTGATCCTCTGT 46791828 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .04 0 .24 .28 Homo sapiens C__25996062_20 PON3 G/T D179A MIM:602720 rs17883013 hCV25996062 Mis-sense Mutation paraoxonase 3 NM_000940 GTTGGTAAAATAGTGGTCTCTGGTG[G/T]CATAGAACTGTTCTGGTCCAAGAAC 94831270 NCBI Build 36.2 Human 7q2,7q21,7q21.3,7q21.3b,7q 7 0 .06 0 0 Homo sapiens C__25996869_20 ALDH6A1 MMSDH|MMSADHA|MGC40271 A/G P51S MIM:603178 hCV25996869 Mis-sense Mutation aldehyde dehydrogenase 6 family, member A1 NM_005589 ATATCGATCCATTTGTCACTTTTGG[A/G]TTCAACGAATTTCCCACCAATGAAG 73609028 NCBI Build 36.2 Human 14q2,14q24,14q24.3,14q24.3a,14q 14 0 0 0 0 Homo sapiens C__25997035_20 ABCC11 WW|EWWD|MRP8 C/T M970V|M970V|M970V MIM:607040 hCV25997035 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 ATATAATAAATGAAGCAAATAACCA[C/T]GATTATGGCTCCCATTAACAGGATA 46778638 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .02 .02 0 0 Homo sapiens C__25997420_20 ABCC11 WW|EWWD|MRP8 A/G P279L|P279L|P279L MIM:607040 hCV25997420 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 CGATGCGCAGGTGATCAGTACTAGG[A/G]GTCCATAGCACACCCCTTCAAACAG 46807641 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 0 0 0 Homo sapiens C__29617942_10 CYP7B1 CP7B A/G MIM:603711 rs8192907 hCV29617942 UTR 3 cytochrome P450, family 7, subfamily B, polypeptide 1 NM_004820 ATTAAAAAGAAATAGATGAGCTTAG[A/G]ATGTTTAGGGTAATTTTGATAGATT 65671704 NCBI Build 36.2 Human 8q1,8q12,8q12.3,8q12.3c,8q 8 0 0 .02 .01 Homo sapiens C__29619439_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 G/T |||| MIM:158343|PharmGKB:PA244 hCV29619439 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 ACCTCATGTCTGTGGACGCTCAGAG[G/T]TTCATGGACTTGGCCACGTACATTA 16049580 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 .01 0 0 0 Homo sapiens C__29627155_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/G L166V MIM:609506 rs8176344 hCV29627155 Mis-sense Mutation cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 CCCCGCTGGCGCCTCAGACGCCGCA[C/G]AAGGTCGCAGACTACGTTGTTCAGG 56445440 NCBI Build 36.2 Human 12q1,12q14.1a,12q14,12q14.1,12q 12 0 0 0 .02 Homo sapiens C__29636659_10 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAQB-69D7.2 A/G R220*|R220* MIM:170261 hCV29636659 Nonsense Mutation|Nonsense Mutation transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) NM_000544|NM_018833 TGCTCCCGGATCCGCAAGTTGATTC[A/G]AGACATGGTGTAGGTGAAGCAGCCT 32911479 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32a,6p 6 0 0 0 0 Homo sapiens C__29672546_10 CYP1B1 CP1B|GLC3A A/C S399I MIM:601771|PharmGKB:PA27094 hCV29672546 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 GGTGTTGGCAGTGGTGGCATGAGGA[A/C]TAGTGACAGGCACAAAGCTGGAGAA 38151805 NCBI Build 36.2 Human 2p2,2p22,2p22.2,2p22.2a,2p 2 0 0 0 0 Homo sapiens C__29673425_10 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T MIM:603201|PharmGKB:PA374 rs3770603 hCV29673425 Intron ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 TCCACTGGCAAATTATTTTTTTTAT[C/T]AGATGAGATGTTGGGAAACCCATAC 169591464 NCBI Build 36.2 Human 2q,2q31.1,2q31,2q3,2q31.1a 2 .06 .1 .29 .16 Homo sapiens C__29700705_10 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/T A109A|A109A MIM:170998|PharmGKB:PA280 rs5767686 hCV29700705 Silent Mutation|Silent Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 AATGTAGAATCTGCGGGGACAAGGC[C/T]TCAGGCTATCATTACGGAGTCCACG 44989852 NCBI Build 36.2 Human 22q1,22q13,22q13.31,22q13.3,22q13.31d,22q 22 0 0 0 0 Homo sapiens C__29708911_10 CYP1B1 CP1B|GLC3A C/T N206S MIM:601771|PharmGKB:PA27094 rs9341248 hCV29708911 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 GTAGCGGCAGCCGAAACACACGGCA[C/T]TCATGACGTTGGCCACGGCCACGAC 38155419 NCBI Build 36.2 Human 2p2,2p22,2p22.2,2p22.2a,2p 2 0 0 0 0 Homo sapiens C__29712728_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta C/T MIM:600409 rs9658058 hCV29712728 UTR 5 peroxisome proliferator-activated receptor delta NM_006238 TTCTGCGGAGCCTGCGGGACGGCGG[C/T]GGTGGCGCCGTAGGCAGCCGGGACA 35418410 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 .03 .2 0 0 Homo sapiens C__29720859_10 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 CYP5A1*7,c.1348G>A A/G K450E|K450E MIM:274180|PharmGKB:PA349 rs8192868 hCV29720859 Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 TGACCCTGAGCACTGGCCAAGCCCG[A/G]AGACCTTCAACCCTGAAAGGTGAGT 139362110 NCBI Build 36.2 Human 7q,7q34c,7q34,7q3 7 .01 0 .01 0 Homo sapiens C__29722344_10 CHST6 MCDC1 C/G MIM:605294 hCV29722344 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 GTCCATGTCGCACAGGAAGACGGAG[C/G]GCACCAGGTCGCGCACAGCCATGTG 74070938 NCBI Build 36.2 Human 16q2,16q23.1,16q23.1a,16q23,16q 16 0 0 0 0 Homo sapiens C__29722346_30 CHST6 MCDC1 G/T MIM:605294 hCV29722346 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 TGTGGCGGCCTCGGCGATGCGTACG[G/T]GGCTACGGCACACCTCGCGCACCAC 74070482 NCBI Build 36.2 Human 16q2,16q23.1,16q23.1a,16q23,16q 16 0 0 0 0 Homo sapiens C__29744989_10 CYP1B1 CP1B|GLC3A A/G L16L MIM:601771|PharmGKB:PA27094 rs9341246 hCV29744989 Silent Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 AGGAGCGTGGTCTGCTGGATGGACA[A/G]CGGGTTTAGCGGCCAAGGGTCGTTC 38155990 NCBI Build 36.2 Human 2p2,2p22,2p22.2,2p22.2a,2p 2 0 0 0 0 Homo sapiens C__29773793_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CDw338|EST157481|MGC102821 A/T I571F MIM:603756|PharmGKB:PA390 rs9282571 hCV29773793 Mis-sense Mutation ATP-binding cassette, sub-family G (WHITE), member 2 NM_004827 GTAAATCCATATCGTGGAATGCTGA[A/T]GTACTGAAGCCATGACAGCCAAGAT 89235722 NCBI Build 36.2 Human 4q2,4q22,4q22.1,4q22.1b,4q 4 0 0 0 0 Homo sapiens C__25988560_20 ABCC13 PRED6|C21orf73 C/T MIM:608835 rs17274058 hCV25988560 ATP-binding cassette, sub-family C (CFTR/MRP), member 13 ATGCTCACCTCAGCAAAAGTTAAGA[C/T]AGCTGTAAATGGACTGATCTACAAA 14585911 NCBI Build 36.2 Human 21q1,21q11,21q11.2,21q11.2c,21q 21 .05 .02 0 .01 Homo sapiens C__25988669_40 CYP4F2 CPF2 A/G A82A MIM:604426 rs3093114 hCV25988669 Silent Mutation cytochrome P450, family 4, subfamily F, polypeptide 2 NM_001082 AGACCTTAAAGCCCTGGGGGTAGGT[A/G]GCCACCAGCTGAGTCAGAACTCTCA 15867413 NCBI Build 36.2 Human 19p13,19p1,19p13.1,19p13.12,19p13.12a,19p 19 .22 .14 .09 .09 Homo sapiens C__30150772_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G MIM:600509|PharmGKB:PA24395 rs10400391 hCV30150772 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 ATCCCGGCTGGCATGTACAGGTGCA[C/G]ATGGTGGGATTCGGTCACCCTGAGA 17448326 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C__30123087_10 CES2 iCE|CE-2|PCE-2|CES2A1 A/G H270R|H270R MIM:605278|PharmGKB:PA377 rs8192924 hCV30123087 Mis-sense Mutation|Mis-sense Mutation carboxylesterase 2 (intestine, liver) NM_003869|NM_198061 TACCTGGACCAAGTGGCTGCACTAC[A/G]CTGGGTCCAGCAGAATATCGCCCAC 65531900 NCBI Build 36.2 Human 16q2,16q22.1a,16q22,16q22.1,16q 16 0 0 0 0 Homo sapiens C__30154475_10 ALDH5A1 SSDH|SSADH C/T R514*|R527* MIM:610045 hCV30154475 Nonsense Mutation|Nonsense Mutation aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) NM_001080|NM_170740 TGGAGTGAAGCAGTCCGGCCTTGGG[C/T]GAGAGGGGTCCAAGTATGGCATTGA 24641851 NCBI Build 36.2 Human 6p2,6p22,6p22.2,6p22.2b,6p 6 0 0 0 0 Homo sapiens C__30159809_10 CYP1B1 CP1B|GLC3A A/G Q248* MIM:601771|PharmGKB:PA27094 hCV30159809 Nonsense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 GTGCGCACCGGGTTGGGGAAGTACT[A/G]CAGCCAGGGCATCACGTCCACCAGG 38155294 NCBI Build 36.2 Human 2p2,2p22,2p22.2,2p22.2a,2p 2 0 0 0 0 Homo sapiens C__30159972_10 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAQB-69D7.2 A/G R651C| MIM:170261 rs4148876 hCV30159972 Mis-sense Mutation|Intron transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) NM_000544|NM_018833 ATCACCAGCACTGTGCGATCCCCAC[A/G]GGAATTCCAGTCCTGCAGCTGAAGG 32904771 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32a,6p 6 .03 .02 .13 .01 Homo sapiens C__30163670_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta C/T T411T MIM:600409 rs9658166 hCV30163670 Silent Mutation peroxisome proliferator-activated receptor delta NM_006238 TGGCTGACCTGCGGCAACTGGTCAC[C/T]GAGCACGCCCAGATGATGCAGCGGA 35501741 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 0 0 .02 0 Homo sapiens C__30168116_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5,g.7182C>A G/T MIM:605325|PharmGKB:PA131 rs8175346 hCV30168116 Intron cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 GGAGCTGATTAAACTTCACTAGCCC[G/T]ATTCTGCAGCTGGAGCCACACCCAG 99108279 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30178961_20 TPMT C/T M1V MIM:187680|PharmGKB:PA356 rs9333569 hCV30178961 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 TCAAGTGAAGTTCTTGTACCATCCA[C/T]AGTTTCAGAGACACCTTTGTCTCAC 18257337 NCBI Build 36.2 Human 6p2,6p22.3,6p22,6p22.3d,6p 6 0 0 0 0 Homo sapiens C__30190407_10 ALDH5A1 SSDH|SSADH A/G R533G|R546G MIM:610045 hCV30190407 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) NM_001080|NM_170740 TCTGGAACTCAAGTATGTGTGTTAC[A/G]GGGGCTTGTAGGATTCTTTGGTTCT 24641908 NCBI Build 36.2 Human 6p2,6p22,6p22.2,6p22.2b,6p 6 0 0 0 0 Homo sapiens C__30199499_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta C/T F263F MIM:600409 rs9658163 hCV30199499 Silent Mutation peroxisome proliferator-activated receptor delta NM_006238 AGACCGTGCGGGAGCTCACTGAGTT[C/T]GCCAAGAGCATCCCCAGCTTCAGCA 35500245 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 0 0 0 0 Homo sapiens C__30203950_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*6,g.14690G>A C/T K208K MIM:605325|PharmGKB:PA131 rs10264272 hCV30203950 Silent Mutation cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 CTAAGAAACCAAATTTTAGGAACTT[C/T]TTAGTGCTCTCCACAAAGGGGTCTT 99100771 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 .09 0 0 Homo sapiens C__30204419_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T MIM:609506 rs8176350 hCV30204419 UTR 3 cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 GATAGGCATTAGGGGAAGATGTATA[C/T]CTTGGTCTTGTGCCTACAAAAAATC 56443115 NCBI Build 36.2 Human 12q1,12q14.1a,12q14,12q14.1,12q 12 0 0 0 .01 Homo sapiens C__30208322_10 ALDH5A1 SSDH|SSADH A/C K335N|K348N MIM:610045 hCV30208322 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) NM_001080|NM_170740 GGGCCATGGCATCTAAATTTAGGAA[A/C]ACTGGACAGGTGAGTCCTGGAGAGT 24628742 NCBI Build 36.2 Human 6p2,6p22,6p22.2,6p22.2b,6p 6 0 0 0 0 Homo sapiens C__30243506_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 CYP5A1,c.373G>A A/G I125V|I125V MIM:274180|PharmGKB:PA349 rs8192833 hCV30243506 Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 GGAGTTCAAGTCGGTAGCCGACAGC[A/G]TTCTGTTTTTACGTGACAAAAGATG 139282495 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 0 0 0 0 Homo sapiens C__30250063_10 SLC22A1 OCT1|HOCT1|oct1_cds A/G | MIM:602607|PharmGKB:PA329 rs10455862 hCV30250063 Acceptor Splice Site|Acceptor Splice Site solute carrier family 22 (organic cation transporter), member 1 NM_003057|NM_153187 CAGATAGTGATGAGTGGTGTTCGCA[A/G]GTGTGTGCCGGAGTCCCCTCGGTGG 160477241 NCBI Build 36.2 Human 6q2,6q25,6q25.3,6q25.3f,6q 6 0 0 0 0 Homo sapiens C__34647395_10 ALDH1A3 ALDH6|RALDH3|ALDH1A6 -/G MIM:600463 hCV34647395 aldehyde dehydrogenase 1 family, member A3 NM_000693 GCAGGCCCTGGAGACGATGGATACA[-/G]GGGAAGCCATTTCTTCATGCTTTTT 99250259 NCBI Build 36.2 Human 15q2,15q26,15q26.3,15q26.3c,15q 15 0 0 0 0 Homo sapiens C__34651578_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*51,g.366G>T G/T G91V MIM:201910 hCV34651578 Mis-sense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 GTCAAAAAGTGGGCAGACTTTGCTG[G/T]CAGACCTGAGCCACTTACCTGTAAG 32114547 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32b,6p 6 0 0 0 0 Homo sapiens C__34651582_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*90,c.682C>T|CYP21A2*90,g.1355C>T C/T Q229* MIM:201910 hCV34651582 Nonsense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 CAATCCAGGTCTCCGGAGGCTGAAG[C/T]AGGCCATAGAGAAGAGGGATCACAT 32115538 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32b,6p 6 0 0 0 0 Homo sapiens C__34651907_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/G MIM:600409 rs17847865 hCV34651907 Intron peroxisome proliferator-activated receptor delta NM_006238 GGTCAGATACCCCTGGAAAACTGAA[A/G]CCCGTGGAGCAGTGATCTCTACAGG 35473312 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 0 0 .01 0 Homo sapiens C__34655626_10 SLC29A1 ENT1|MGC1465|MGC3778 -/A |||| MIM:602193|PharmGKB:PA154 hCV34655626 |||| solute carrier family 29 (nucleoside transporters), member 1 NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 TGTCCTGTTTCTTGACTTTCAATAT[-/A]CTTTGACTGGTTGGGCCGGAGCCTC 44308101 NCBI Build 36.2 Human 6p2,6p21,6p21.1,6p21.1b,6p 6 0 0 0 0 Homo sapiens C__34657806_10 CYP39A1 A/G H288Y MIM:605994 rs17856332 hCV34657806 Mis-sense Mutation cytochrome P450, family 39, subfamily A, polypeptide 1 NM_016593 TGGATATCAGGATGAGAAAGGACGT[A/G]TGCAAGTGTCCAAAATGCAACCTTA 46701183 NCBI Build 36.2 Human 6p12.3,6p12,6p1,6p12.3e,6p 6 .01 0 0 0 Homo sapiens C__34816040_20 NAT1 AAC1|NATI NAT1*19,g.97C>T C/T R33* MIM:108345|PharmGKB:PA17 hCV34816040 Nonsense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662 AACTGACATTCTTCAACACCAGATC[C/T]GAGCTGTTCCCTTTGAGAACCTTAA 18123933 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 0 0 0 0 Homo sapiens C__34816042_20 NAT1 AAC1|NATI NAT1*21,g.613A>G A/G M205V MIM:108345|PharmGKB:PA17 hCV34816042 Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662 TCGAACAATTGAAGATTTTGAGTCT[A/G]TGAATACATACCTGCAGACATCTCC 18124449 NCBI Build 36.2 Human 8p,8p22a,8p22,8p2 8 0 0 0 0 Homo sapiens C__34816043_10 NAT1 AAC1|NATI NAT1*25,g.787A>G A/G I263V MIM:108345|PharmGKB:PA17 hCV34816043 Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662 GTTCAAGACTCTGAGTGAGGAAGAA[A/G]TAGAAAAAGTGCTGAAAAATATATT 18124623 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 0 0 0 0 Homo sapiens C__34816045_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5,g.27526C>T A/G MIM:605325|PharmGKB:PA131 rs6976017 hCV34816045 Intron cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 TGTGCTGGGACTGTGGATGGATGTA[A/G]TTTCGTTTTTTCTAGTCTGTGGTTT 99087935 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 .01 .16 .02 .03 Homo sapiens C__34816046_20 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5,g.27448C>A G/T MIM:605325|PharmGKB:PA131 hCV34816046 Intron cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 GTGATAAAAAGACTTACAAGCAAAT[G/T]ATTGTACAACCACACGATTGTCATG 99088013 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__34816048_20 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*1E,g.17163G>T A/C MIM:605325|PharmGKB:PA131 rs4646453 hCV34816048 Intron cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 CAAAAATTCTCATCTTCCTGGAATA[A/C]TTCCTGCACATTTTCAGAACAAGGC 99098298 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 .01 .07 .21 .34 Homo sapiens C__34816049_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5,g.16993C>G C/G MIM:605325|PharmGKB:PA131 hCV34816049 Intron cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 TAGAAGCAAAAGGAGAGATTTCTTT[C/G]GCAGAAAGTGACTCGTGAAGTCAGA 99098468 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 .02 0 Homo sapiens C__34816050_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*3I,g.16903A>G C/T MIM:605325|PharmGKB:PA131 hCV34816050 Intron cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 TTCCCTCCCTCAACCTCCCTATGGC[C/T]TCTTGAAGACGTGTTACCTGAGTCA 99098558 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__34816052_20 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5,g.13173T>C A/G MIM:605325|PharmGKB:PA131 hCV34816052 Intron cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 GATCAGTACCTGTAGTTAAATGTGC[A/G]GACTCAAGTCCCAGAAGGATATGGC 99102288 NCBI Build 36.2 Human 7q,7q22.1b,7q22.1,7q22,7q2 7 0 0 0 0 Homo sapiens C__11764222_20 SLC28A3 CNT3 C/T T89T MIM:608269|PharmGKB:PA426 rs7867504 hCV11764222 Silent Mutation solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NM_022127 TGTGTTTCCTACAGAAACCACATAC[C/T]GTGTCATACCTCCTTTCCAAACACC 86110056 NCBI Build 36.2 Human 9q2,9q21,9q21.3,9q21.33,9q21.33a,9q 9 .32 .28 .48 .34 Homo sapiens C__11893129_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G P760L| MIM:606882 hCV11893129 Mis-sense Mutation|Intron ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GGGGGGCGTGTCGAAGAATGTCACA[A/G]GGCTCCTCTCCGCCTTCTCAGCCAC 51430524 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C__11896328_20 SULT1A1 PST|STP|STP1|P-PST|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2 T/C K282E|K282E|K282E|K282E|K204E MIM:171150|PharmGKB:PA343 rs36043491 hCV11896328 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 CTGAGGCTGCAGCCTGCCATCTTCT[T/C]CGCATAGTCCGCATCGAAGCGCTCA 28524687 NCBI Build 36.2 Human 16p,16p11,16p11.2e,16p11.2,16p1 16 0 0 0 0 Homo sapiens C__11916499_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta C/T MIM:600409 rs1883321 hCV11916499 Intron peroxisome proliferator-activated receptor delta NM_006238 GGACCTGAGCAGGCCTTTCCTTTAC[C/T]TCGTTGGCATCTCTCAGCATTTTAT 35477812 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 0 .03 0 0 Homo sapiens C__11916503_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/G MIM:600409 rs1883323 hCV11916503 Intron peroxisome proliferator-activated receptor delta NM_006238 CTGGAAAACTGAAGCCCGTGGAGCA[A/G]TGATCTCTACAGGACTGCTTCAAGG 35473324 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 .05 0 0 0 Homo sapiens C__11917123_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAQB-69D7.2 A/G N436N|N436N MIM:170261 rs4576294 hCV11917123 Silent Mutation|Silent Mutation transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) NM_000544|NM_018833 AGAAAACCTTCTCTGCAGCTCCCAC[A/G]TTGCTGAGCATATCCCCATATATGT 32906526 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32a,6p 6 .11 .01 .09 0 Homo sapiens C__11917381_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAQB-69D7.3 C/T Q708R MIM:170260|PharmGKB:PA35021 rs1057149 hCV11917381 Mis-sense Mutation transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) NM_000593 TGCTCGGGCCAACGCCACTGCCTGT[C/T]GCTGACCCCCTGACAGCTGGCTCCC 32922920 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32a,6p 6 .03 .07 0 0 Homo sapiens C__11917777_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 C/T L227L MIM:201910 rs6457 hCV11917777 Silent Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 CTTCCCCAATCCAGGTCTCCGGAGG[C/T]TGAAGCAGGCCATAGAGAAGAGGGA 32115532 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32b,6p 6 0 0 0 0 Homo sapiens C__11922961_30 PPARG NR1C3|PPARG1|PPARG2 C/T ||| MIM:601487|PharmGKB:PA281 rs3856806 hCV11922961 ||| peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 ACCTCAGACAGATTGTCACGGAACA[C/T]GTGCAGCTACTGCAGGTGATCAAGA 12450557 NCBI Build 36.2 Human 3p2,3p25,3p25.1d,3p25.1,3p 3 .18 .05 .13 .28 Homo sapiens C__11928752_30 CYP20A1 CYP-M|MGC22229 C/T rs2043449 hCV11928752 cytochrome P450, family 20, subfamily A, polypeptide 1 NM_177538 GAAATATTTAATTTGTCTGTTTCAG[C/T]GGACCCTTTTGAAACCATGCTGAAG 203824935 NCBI Build 36.2 Human 2q3,2q33,2q33.2,2q33.2a,2q 2 .03 .29 .1 .06 Homo sapiens C__11941798_30 ADH4 ADH-2 A/G L351L MIM:103740 rs1126672 hCV11941798 Silent Mutation alcohol dehydrogenase 4 (class II), pi polypeptide NM_000670 TCAAAAGGCAGGGTATGGGTCACCA[A/G]TGCATCCAGATTGAATTTCTTATTC 100266835 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 .35 .16 .01 0 Homo sapiens C__11941799_30 ADH4 ADH-2 C/T I309V MIM:103740 rs1126671 hCV11941799 Mis-sense Mutation alcohol dehydrogenase 4 (class II), pi polypeptide NM_000670 CCGATTATTAGCTCCTCTGGAAAAA[C/T]AGTCAATCCTTTGCTACCAGCAGCT 100267437 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 .36 .22 .01 0 Homo sapiens C__11941805_40 ADH4 ADH-2 A/G S45S MIM:103740 rs2032349 hCV11941805 Silent Mutation alcohol dehydrogenase 4 (class II), pi polypeptide NM_000670 TAACAGTGGCATCAGTATGGCACAG[A/G]GAGGTAGCAATGATCTACAAGGCAA 100281842 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 .01 .06 0 0 Homo sapiens C__11941896_20 ADH1B ADH2 A/G R370C MIM:103720|PharmGKB:PA24571 rs2066702 hCV11941896 Mis-sense Mutation alcohol dehydrogenase IB (class I), beta polypeptide NM_000668 TTGCCTCAAAACGTCAGGACGGTAC[A/G]GATACTGCAATAGGAAAGAAGAGAC 100448040 NCBI Build 36.2 Human 4q,4q23b,4q23,4q2 4 0 .26 0 0 Homo sapiens C__11942306_30 ADH7 ADH-4 C/T R230R MIM:600086 rs971074 hCV11942306 Silent Mutation alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide NM_000673 CTTTGTTGAGGTCAATCCCAATGAT[C/T]CTAGATGCACCAGCTGACTTACAGC 100560884 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 .13 .19 .11 .07 Homo sapiens C__25649029_30 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 G/T A255S|A266S MIM:602385|PharmGKB:PA345 rs17036104 hCV25649029 Mis-sense Mutation|Mis-sense Mutation sulfotransferase family, cytosolic, 1C, member 2 NM_001056|NM_176825 ATCTATCTTGGACCAGTCAATTTCC[G/T]CCTTCATGAGAAAAGGTGTGTGGGG 108288468 NCBI Build 36.2 Human 2q,2q12.3c,2q12.3,2q12,2q1 2 .03 .02 .08 .11 Homo sapiens C__25649443_50 UGT2B7 UGT2B9 C/T S299F MIM:600068|PharmGKB:PA361 rs34620993 hCV25649443 Mis-sense Mutation UDP glucuronosyltransferase 2 family, polypeptide B7 NM_001074 GAAATGGAAGACTTTGTACAGAGCT[C/T]TGGAGAAAATGGTGTTGTGGTGTTT 70003139 NCBI Build 36.2 Human 4q1,4q13,4q13.2,4q13.2c,4q 4 0 0 0 0 Homo sapiens C__25649484_10 UGT2B15 UGT2B8 A/G MIM:600069|PharmGKB:PA37188 hCV25649484 UDP glucuronosyltransferase 2 family, polypeptide B15 NM_001076 GCCAACAGAGAATCGAAGACTGTAC[A/G]GAAAGGGTATGTTAAATAGTTCAGC 69570433 NCBI Build 36.2 Human 4q1,4q13,4q13.2,4q13.2c,4q 4 0 .01 0 0 Homo sapiens C__25650083_20 CYP2F1 C2F1|CYP2F|MGC126121 C/T P38S MIM:124070 hCV25650083 Mis-sense Mutation cytochrome P450, family 2, subfamily F, polypeptide 1 NM_000774 GCTGCCTCCGGGACCCAGACCCCTC[C/T]CAATCCTGGGAAACCTGCTGCTGCT 46314045 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .02 .14 .06 .01 Homo sapiens C__25650165_20 AHR C/T N44N MIM:600253 rs17779352 hCV25650165 Silent Mutation aryl hydrocarbon receptor NM_001621 CCAAGCGGCATAGAGACCGACTTAA[C/T]ACAGAGTTGGACCGTTTGGCTAGCC 17316151 NCBI Build 36.2 Human 7p2,7p21,7p21.1,7p21.1b,7p 7 .11 .02 .02 .09 Homo sapiens C__25650166_20 AHR A/G I570V MIM:600253 rs4986826 hCV25650166 Mis-sense Mutation aryl hydrocarbon receptor NM_001621 TTTCAGAAATGATTTTTCTGGTGAG[A/G]TTGACTTCAGAGACATTGACTTAAC 17345682 NCBI Build 36.2 Human 7p2,7p21,7p21.1,7p21.1b,7p 7 0 .09 0 0 Homo sapiens C__25650167_20 AHR A/C R398R MIM:600253 hCV25650167 Silent Mutation aryl hydrocarbon receptor NM_001621 GGAAGGAACAGAGCATTTACGAAAA[A/C]GAAATACGAAGTTGCCTTTTATGTT 17345166 NCBI Build 36.2 Human 7p2,7p21,7p21.1,7p21.1b,7p 7 0 0 0 0 Homo sapiens C__25650957_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAQB-69D7.2 C/G R273G|R273G MIM:170261 hCV25650957 Mis-sense Mutation|Mis-sense Mutation transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) NM_000544|NM_018833 AGCCCCACCACTTTCACCAGGCTTC[C/G]CAAGAGCACATTGGCATTTAAAGGA 32911037 NCBI Build 36.2 Human 6p,6p21.32a,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C__25650975_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAQB-69D7.2 C/T Q551Q|Q551Q MIM:170261 hCV25650975 Silent Mutation|Silent Mutation transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) NM_000544|NM_018833 CAGAACCGGAGAACAGCACAGGCTC[C/T]TGCCCAACTGAAACCACCTGTGCAG 32905827 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32a,6p 6 0 0 0 0 Homo sapiens C__25652123_10 ADH1A ADH1 A/G Y111Y MIM:103700 rs6828526 hCV25652123 Silent Mutation alcohol dehydrogenase 1A (class I), alpha polypeptide NM_000667 CAGAAACCTACTCGTTTTTCAAGCA[A/G]TAGTTGCTCTCCGGGTTTTTACAAA 100424910 NCBI Build 36.2 Human 4q,4q23b,4q23,4q2 4 0 .02 0 0 Homo sapiens C__25652124_20 ADH1A ADH1 C/T N76S MIM:103700 hCV25652124 Mis-sense Mutation alcohol dehydrogenase 1A (class I), alpha polypeptide NM_000667 GACTGTAGTCACCCCTTCTCCAACA[C/T]TCTCCACGATGCCGGCTGCCTCATG 100427062 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 0 0 0 0 Homo sapiens C__25652138_10 ADH1C ADH3 A/G N226N MIM:103730|PharmGKB:PA24572 rs6413444 hCV25652138 Silent Mutation alcohol dehydrogenase 1C (class I), gamma polypeptide NM_000669 CTTTAGCCTTTGCAAATTTGTCCTT[A/G]TTGATGTCCACAGCAATGATTCTGG 100483125 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 0 0 0 0 Homo sapiens C__25652175_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 C/T L430L MIM:201910 hCV25652175 Silent Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 CTTCGGCTGCGGTGCCCGCGTGTGC[C/T]TGGGCGAGCCGCTGGCGCGCCTGGA 32116690 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32b,6p 6 0 .01 0 0 Homo sapiens C__25652185_30 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*75,c.185A>T|CYP21A2*75,g.185A>T|CYP21A2*91,c.185A>T|CYP21A2*91,g.185A>T A/T H63L MIM:201910 rs36090368 hCV25652185 Mis-sense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 AAATTCGGGCCCATCTACAGGCTCC[A/T]CCTTGGGCTGCAAGGTGAGAGGCTG 32114366 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 .08 .04 .11 .17 Homo sapiens C__25653022_10 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 G/T Q125P MIM:138360 hCV25653022 Mis-sense Mutation glutathione S-transferase A2 NM_000846 GAAGTAGCGATTTTTTGTTTTCTCT[G/T]GGATCAAGGCAAGCTTGGCATCTTG 52725651 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 0 .02 0 0 Homo sapiens C__22271516_20 ALDH9A1 E3|ALDH4|ALDH7|ALDH9|TMABADH A/G MIM:602733 rs1143659 hCV22271516 aldehyde dehydrogenase 9 family, member A1 NM_000696 ACTCCAGGCACTGCCAGGAAATGTC[A/G]ATGTCCAAGCGGGCCTCAAAGATGG 163918897 NCBI Build 36.2 Human 1q2,1q24,1q24.1a,1q24.1,1q 1 .34 .24 0 .01 Homo sapiens C__16254898_30 SULT2B1 HSST2 C/T P25P|P40P PharmGKB:PA36249|MIM:604125 rs2544794 hCV16254898 Silent Mutation|Silent Mutation sulfotransferase family, cytosolic, 2B, member 1 NM_004605|NM_177973 TCCGGTACAAGGGCGTCCCCTTCCC[C/T]GTCGGCCTGTACTCGCTCGAGAGCA 53771058 NCBI Build 36.2 Human 19q1,19q13,19q13.3,19q13.32,19q13.32c,19q 19 .1 .16 0 .01 Homo sapiens C__22271637_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 C/T MIM:601107|PharmGKB:PA116 rs7899457 hCV22271637 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392 GAGTAGATATTGCTTCCATTGGGCT[C/T]CACGACCTCCGAGAGAAGCTGACCA 101595493 NCBI Build 36.2 Human 10q2,10q24,10q24.2,10q24.2c,10q 10 0 .13 0 0 Homo sapiens C__22272123_10 GSTM5 GTM5|GSTM5-5 C/T P179L MIM:138385 hCV22272123 Mis-sense Mutation glutathione S-transferase M5 NM_000851 GAGCCCAAGTGCTTGGACGCCTTCC[C/T]AAACTTGAAGGACTTCATCTCCCGC 110059354 NCBI Build 36.2 Human 1p13,1p1,1p13.3,1p13.3b,1p 1 .09 .34 0 0 Homo sapiens C__22272188_10 MAOB RP1-201D17__B.1|MGC26382 C/T MIM:309860 rs7879356 hCV22272188 monoamine oxidase B NM_000898 AATGGATGGGTACCTGTCCTCCATT[C/T]GTTGTCGAGATGATTCTTGTTGTGC 43541328 NCBI Build 36.2 Human Xp11,Xp1,Xp11.3,Xp11.3c,Xp X 0 .17 0 0 Homo sapiens C__22272399_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 rs8192695 hCV22272399 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TGACAGCAGCCATGAACGCCATCCC[A/G]GCTGGCATGTACAGGTGCAGATGGT 17448306 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 .04 .11 .01 .01 Homo sapiens C__22272567_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 A/G MIM:601107|PharmGKB:PA116 rs8187710 hCV22272567 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392 CTAGACAACGGGAAGATTATAGAGT[A/G]CGGCAGCCCTGAAGAACTGCTACAA 101601284 NCBI Build 36.2 Human 10q2,10q24,10q24.2,10q24.2c,10q 10 .08 .19 0 0 Homo sapiens C__22272773_10 CYP4F12 F22329_1 A/G MIM:611485 rs609290 hCV22272773 cytochrome P450, family 4, subfamily F, polypeptide 12 NM_023944 GGCCACCTATTCCCAGGGCTTTACG[A/G]TATGGCTGGGTCCCATCATCCCCTT 15650140 NCBI Build 36.2 Human 19p13,19p1,19p13.1,19p13.12,19p13.12a,19p 19 .02 .09 0 0 Homo sapiens C__22272980_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 A/G MIM:601107|PharmGKB:PA116 rs2273697 hCV22272980 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392 CAACTTGGCCAGGAAGGAGTACACC[A/G]TTGGAGAAACAGTGAACCTGATGTC 101553805 NCBI Build 36.2 Human 10q2,10q24,10q24.2,10q24.2c,10q 10 .18 .19 .14 .02 Homo sapiens C__22274188_30 SLC22A3 EMT|EMTH|OCT3 A/G A411A MIM:604842|PharmGKB:PA330 rs2292334 hCV22274188 Silent Mutation solute carrier family 22 (extraneuronal monoamine transporter), member 3 NM_021977 GCCTTGGACGACGCCTCCCCTTTGC[A/G]GCAAGCAATATAGTGGCAGGGGTGG 160778178 NCBI Build 36.2 Human 6q2,6q25,6q25.3,6q25.3f,6q 6 .26 .14 .42 .35 Homo sapiens C__22275149_30 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 C/G T112S MIM:138360 rs2180314 hCV22275149 Mis-sense Mutation glutathione S-transferase A2 NM_000846 CTTGGCATCTTGTTCCTCAGGTTGA[C/G]TAAAGGGCAGAAGAAGGATCATTTC 52725690 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 .4 .27 .34 .31 Homo sapiens C__22275631_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*13A,g.21563C>T|CYP2B6*13B,g.21563C>T|CYP2B6*19,g.21563C>T|CYP2B6*9,g.21563C>T C/T MIM:123930|PharmGKB:PA123 rs8192719 hCV22275631 Intron cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 AGACACCAGAGGGCAGGTACTATCC[C/T]CAACTTGAGAAAAACAACGAGAGAT 46210613 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .2 .42 .18 .3 Homo sapiens C__25471601_40 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 A/G | MIM:603234 rs2856585 hCV25471601 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 AGAGGAAGAGTGCGTAGAGGCAGAG[A/G]GGGGTGCCCACGGCACGCAGGTAGG 16171164 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 .06 .12 .28 .27 Homo sapiens C__25471727_20 DPYD DHP|DPD|MGC70799|MGC132008 A/G MIM:274270|PharmGKB:PA145 rs17376848 hCV25471727 dihydropyrimidine dehydrogenase NM_000110 GTTAAATCACACTTACGTTGTCTGG[A/G]AAGTCAGCCTTTAGTTCAGTGACAC 97688212 NCBI Build 36.2 Human 1p2,1p21,1p21.3,1p21.3b,1p 1 .04 .02 .11 .1 Homo sapiens C__25471773_20 ALDH1B1 ALDH5|ALDHX|MGC2230 A/G M253V MIM:100670 rs4878199 hCV25471773 Mis-sense Mutation aldehyde dehydrogenase 1 family, member B1 NM_000692 AGCAGGTGCGGCCATCGCCCAGCAC[A/G]TGGATGTTGACAAAGTTGCCTTCAC 38386502 NCBI Build 36.2 Human 9p13,9p1,9p13.1,9p13.1b,9p 9 .04 .06 0 0 Homo sapiens C__25472063_20 SLC15A1 PEPT1|HPECT1|HPEPT1 A/G MIM:600544|PharmGKB:PA323 rs8187832 hCV25472063 solute carrier family 15 (oligopeptide transporter), member 1 NM_005073 ATGTGCTGGCATTGTAGCTGCTGAT[A/G]TTTGCATAAACTTTCCCACTCATTG 98138772 NCBI Build 36.2 Human 13q3,13q32,13q32.3a,13q32.3,13q 13 .05 .21 0 0 Homo sapiens C__25472119_20 ALDH1B1 ALDH5|ALDHX|MGC2230 C/T I65I MIM:100670 rs2228094 hCV25472119 Silent Mutation aldehyde dehydrogenase 1 family, member B1 NM_000692 TCAACCCTACCACCGGGGAGGTCAT[C/T]GGGCACGTGGCTGAAGGTGACCGGG 38385940 NCBI Build 36.2 Human 9p13,9p1,9p13.1,9p13.1b,9p 9 .04 .09 0 0 Homo sapiens C__25472120_20 ALDH1B1 ALDH5|ALDHX|MGC2230 C/T T61T MIM:100670 rs2073477 hCV25472120 Silent Mutation aldehyde dehydrogenase 1 family, member B1 NM_000692 CCTTCCCGACGGTCAACCCTACCAC[C/T]GGGGAGGTCATTGGGCACGTGGCTG 38385928 NCBI Build 36.2 Human 9p13,9p1,9p13.1,9p13.1b,9p 9 .17 .26 .4 .39 Homo sapiens C__25472177_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757 C/T P920S MIM:604323|PharmGKB:PA376 rs35999272 hCV25472177 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 3 NM_003786 CTCAGATGGGGAGGGACAGGGTCGG[C/T]CTGTACCCCGGAGGCACCTGGGTCC 46108034 NCBI Build 36.2 Human 17q21,17q2,17q21.3,17q21.33,17q21.33b,17q 17 0 .19 0 0 Homo sapiens C__25598604_20 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|MGC45260 C/T P117P|P117P|P117P|P117P MIM:607582|PharmGKB:PA388 rs11568629 hCV25598604 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation solute carrier family 22 (organic anion transporter), member 6 NM_004790|NM_153276|NM_153277|NM_153278 TGCTCACCTCAGTCACGATGGTAGA[C/T]GGGAAGGTGCTGTTGTCATAGATCC 62508388 NCBI Build 36.2 Human 11q1,11q12,11q12.3,11q12.3b,11q 11 .05 .01 .01 0 Homo sapiens C__25598615_20 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|MGC45260 A/G Y490Y|Y490Y|| MIM:607582|PharmGKB:PA388 rs11568635 hCV25598615 Silent Mutation|Silent Mutation|Intron|Intron solute carrier family 22 (organic anion transporter), member 6 NM_004790|NM_153276|NM_153277|NM_153278 CGCTGGCGGCCACAGGAACAGCACC[A/G]TAGATGAAGAGAGGCATGGAGGGGT 62501327 NCBI Build 36.2 Human 11q1,11q12,11q12.3,11q12.3b,11q 11 0 0 0 0 Homo sapiens C__25599057_30 CYP4B1 CYPIVB1|P-450HP A/G | MIM:124075|PharmGKB:PA27119 rs7513658 hCV25599057 | cytochrome P450, family 4, subfamily B, polypeptide 1 NM_000779|NM_001099772 GATTGTCTCCTCCTGCAGACCCTAA[A/G]GCCCCTGATGTGTATGACTTCTTCC 47049406 NCBI Build 36.2 Human 1p3,1p33d,1p33,1p 1 0 .09 0 0 Homo sapiens C__25599068_20 CYP4B1 CYPIVB1|P-450HP A/G | MIM:124075|PharmGKB:PA27119 hCV25599068 | cytochrome P450, family 4, subfamily B, polypeptide 1 NM_000779|NM_001099772 TTTGAGTTCTCTCTGGACCCCTCAC[A/G]GCTGCCCATCAAGATGCCCCAGCTT 47056982 NCBI Build 36.2 Human 1p,1p33,1p33d,1p3 1 0 .08 0 0 Homo sapiens C__25599087_20 CYP4B1 CYPIVB1|P-450HP C/G | MIM:124075|PharmGKB:PA27119 hCV25599087 | cytochrome P450, family 4, subfamily B, polypeptide 1 NM_000779|NM_001099772 GGCAAAATGACTTATCTGACCATGT[C/G]CATCAAGGAGAGCTTCCGCCTCTAC 47055342 NCBI Build 36.2 Human 1p3,1p33d,1p33,1p 1 0 .02 0 0 Homo sapiens C__25599088_30 CYP4B1 CYPIVB1|P-450HP CYP4B1*4,c.964A>G A/G | MIM:124075|PharmGKB:PA27119 hCV25599088 | cytochrome P450, family 4, subfamily B, polypeptide 1 NM_000779|NM_001099772 GTTTGAAGGCCATGACACCACCACC[A/G]GTGGTATCTCCTGGTTTCTCTACTG 47053417 NCBI Build 36.2 Human 1p3,1p33d,1p33,1p 1 .02 0 0 0 Homo sapiens C__25599115_20 CYP4B1 CYPIVB1|P-450HP CYP4B1*3,c.517C>T|CYP4B1*6,c.517C>T C/T | MIM:124075|PharmGKB:PA27119 rs4646487 hCV25599115 | cytochrome P450, family 4, subfamily B, polypeptide 1 NM_000779|NM_001099772 CCAGGACAAGTGGGAAGAGAAAGCT[C/T]GGGAGGGTAAGTCCTTTGACATCTT 47051762 NCBI Build 36.2 Human 1p3,1p33d,1p33,1p 1 .09 .17 .17 .28 Homo sapiens C__25599727_20 ALDH9A1 E3|ALDH4|ALDH7|ALDH9|TMABADH A/C MIM:602733 hCV25599727 aldehyde dehydrogenase 9 family, member A1 NM_000696 CCACATTGAAGAGCCCAGGAGGTAC[A/C]CCAGCCTCACTGTAGATTTCAGCCA 163916465 NCBI Build 36.2 Human 1q2,1q24,1q24.1a,1q24.1,1q 1 0 .01 0 0 Homo sapiens C__25599848_20 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G || MIM:603065|PharmGKB:PA378 rs35761343 hCV25599848 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 GGTGGACCAGCTGCAGGAGCAATTC[A/G]CCATTACTCTGAAGTCCTACATTGA 121017316 NCBI Build 36.2 Human 3q,3q13.33,3q13.33a,3q13.3,3q13,3q1 3 0 .02 0 0 Homo sapiens C__25599859_20 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G || MIM:603065|PharmGKB:PA378 rs12721612 hCV25599859 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 AGGACCAGATCTCCCTGCTGAAGGG[A/G]GCCGCTTTCGAGCTGTGTCAACTGA 121016555 NCBI Build 36.2 Human 3q1,3q13,3q13.3,3q13.33a,3q13.33,3q 3 0 .04 0 0 Homo sapiens C__25599874_40 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G || MIM:603065|PharmGKB:PA378 hCV25599874 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 GAACCATGCTGACTTTGTACACTGT[A/G]AGGACACAGAGTCTGTTCCTGGAAA 121008839 NCBI Build 36.2 Human 3q1,3q13,3q13.3,3q13.33a,3q13.33,3q 3 0 .02 0 0 Homo sapiens C__25599886_40 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/T || MIM:603065|PharmGKB:PA378 rs12721613 hCV25599886 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 GGACACAGAGTCTGTTCCTGGAAAG[C/T]CCAGTGTCAACGCAGATGAGGAAGT 121008866 NCBI Build 36.2 Human 3q,3q13.33,3q13.33a,3q13.3,3q13,3q1 3 0 .08 0 0 Homo sapiens C__25600548_30 CYP2S1 C/T T353T hCV25600548 Silent Mutation cytochrome P450, family 2, subfamily S, polypeptide 1 NM_030622 GGGACCGTACCCGCCTCCCTTACAC[C/T]GACGCGGTTCTGCATGAGGCGCAGC 46401277 NCBI Build 36.2 Human 19q,19q13.2c,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__25937636_20 ATP7A MK|MNK|RP3-465G10.1 C/G MIM:300011|PharmGKB:PA72 hCV25937636 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 AGTGAATGCCAATCAGATAAAAGAG[C/G]TGGTTCCAGAACTCAGTTTAGATAC 77130697 NCBI Build 36.2 Human Xq,Xq21,Xq21.1a,Xq2,Xq21.1 X 0 0 0 0 Homo sapiens C__25937686_10 ATP7A MK|MNK|RP3-465G10.1 A/G MIM:300011|PharmGKB:PA72 hCV25937686 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 GTGTTATTGAAGGACATTCTATGGT[A/G]GATGAGTCCCTCATCACAGGTATGT 77158015 NCBI Build 36.2 Human Xq21.1,Xq2,Xq21.1a,Xq21,Xq X 0 .01 0 0 Homo sapiens C__25938981_20 ATP7A MK|MNK|RP3-465G10.1 A/G MIM:300011|PharmGKB:PA72 hCV25938981 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 GCAACCAACAAAGCACATATTAAAT[A/G]TGACCCAGAAATTATTGGTCCTAGA 77151370 NCBI Build 36.2 Human Xq21.1,Xq2,Xq21.1a,Xq21,Xq X 0 0 0 0 Homo sapiens C__25939217_30 CYP39A1 A/C V201F MIM:605994 hCV25939217 Mis-sense Mutation cytochrome P450, family 39, subfamily A, polypeptide 1 NM_016593 TCTGGCAACTGGGACCCATACTCAA[A/C]ATCTTCATCATAAACTTGAAAATAC 46713562 NCBI Build 36.2 Human 6p12.3,6p12,6p1,6p12.3e,6p 6 0 0 0 0 Homo sapiens C__25939478_20 ADHFE1 HOT|ADH8|FLJ32430|HMFT2263|MGC48605 C/G MIM:611083 rs2555588 hCV25939478 alcohol dehydrogenase, iron containing, 1 NM_144650 CGTCCCCAGCGGTGTTCACTTTCAC[C/G]GCCCAGATGTTTCCAGAGCGACACC 67531909 NCBI Build 36.2 Human 8q1,8q13,8q13.1,8q13.1b,8q 8 .24 .21 0 0 Homo sapiens C__25939834_10 ADH1B ADH2 A/G V204V MIM:103720|PharmGKB:PA24571 rs28626993 hCV25939834 Silent Mutation alcohol dehydrogenase IB (class I), beta polypeptide NM_000668 TACAGCCCATAACAGCAGATAGGCC[A/G]ACCCCTCCCAGGCCAAACACAGCAC 100454217 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 0 .09 0 0 Homo sapiens C__25940196_20 CYP39A1 G/T K329Q MIM:605994 hCV25940196 Mis-sense Mutation cytochrome P450, family 39, subfamily A, polypeptide 1 NM_016593 CGAATGGTTTCCAAAACACACCATT[G/T]AATTAGAAGGAGATTCTCCAGGTCA 46671763 NCBI Build 36.2 Human 6p12.3,6p12,6p1,6p12.3e,6p 6 .02 0 0 0 Homo sapiens C__25940203_30 CYP39A1 A/T K324N MIM:605994 rs7761731 hCV25940203 Mis-sense Mutation cytochrome P450, family 39, subfamily A, polypeptide 1 NM_016593 AAACACACCATTTAATTAGAAGGAG[A/T]TTCTCCAGGTCATCCTCAGACACTT 46671776 NCBI Build 36.2 Human 6p12.3,6p12,6p1,6p12.3e,6p 6 .34 .32 .39 .33 Homo sapiens C__25941229_20 ALDH5A1 SSDH|SSADH C/T D463D|D476D MIM:610045 hCV25941229 Silent Mutation|Silent Mutation aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) NM_001080|NM_170740 CTATAGCAATCGCTAACGCAGCTGA[C/T]GTTGGGTTAGCAGGTAGGTGTTTGT 24640371 NCBI Build 36.2 Human 6p2,6p22,6p22.2,6p22.2b,6p 6 .01 .01 0 0 Homo sapiens C__25941497_20 ABCC12 MRP9|MGC27071 A/T N587Y MIM:607041 rs16945816 hCV25941497 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 TCAGTCAGGTCTCCATAGGGGAGGT[A/T]GCTCAGGTCCTTCTGGAGGCCACAG 46708699 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .14 .01 0 Homo sapiens C__25941907_20 ABCC10 MRP7|SIMRP7|EST182763 A/G N394D hCV25941907 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 10 NM_033450 CTTGGCACTGCTGCTGGTACCCGTC[A/G]ACAAAGTGATTGCCACCCGCATCAT 43509005 NCBI Build 36.2 Human 6p2,6p21,6p21.1,6p21.1c,6p 6 0 0 0 0 Homo sapiens C__25942050_20 ABCC12 MRP9|MGC27071 C/T V386V MIM:607041 rs12149826 hCV25942050 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 GCAAGATTGCAATGGAAAACTTCAT[C/T]ACATTAAACATGGCAATCACACTAA 46722278 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .35 .08 0 0 Homo sapiens C__25943334_20 ADHFE1 HOT|ADH8|FLJ32430|HMFT2263|MGC48605 A/G MIM:611083 hCV25943334 alcohol dehydrogenase, iron containing, 1 NM_144650 GCTTTTGATGCCTATGTTGCTGTCG[A/G]TGGTGGCTCTACCATGGACACCTGT 67520066 NCBI Build 36.2 Human 8q1,8q13,8q13.1,8q13.1b,8q 8 0 0 0 0 Homo sapiens C__25943912_20 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 A/G P188P MIM:100650|PharmGKB:PA24696 hCV25943912 Silent Mutation aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 GTTGTTTGTTGCAGTGGAATTTCCC[A/G]CTCCTGATGCAAGCATGGAAGCTGG 110712632 NCBI Build 36.2 Human 12q2,12q24,12q24.1,12q24.12,12q24.12b,12q 12 .03 .01 0 0 Homo sapiens C__25951530_20 ALDH3A1 ALDH3|ALDHIII|MGC10406 A/T Y305F MIM:100660 hCV25951530 Mis-sense Mutation aldehyde dehydrogenase 3 family, memberA1 NM_000691 AGTGGCGGCATCCCCGGTGCCCCCA[A/T]AAGCCACCTTCTGGCCCTCAATCAG 19584276 NCBI Build 36.2 Human 17p1,17p11.2,17p11,17p11.2d,17p 17 0 0 0 0 Homo sapiens C__25592955_20 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*3E,g.27050A>G C/T MIM:605325|PharmGKB:PA131 rs28365094 hCV25592955 Intron cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 TCTCAACTGAGTCCATGCAGTACTA[C/T]TGAAGTATTAGAAGCTCCAGAGAAT 99088411 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 .12 .02 0 0 Homo sapiens C__25591787_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 A/G MIM:601107|PharmGKB:PA116 rs7080681 hCV25591787 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392 TTGCTGATCTCCTTTGCAAGTGACC[A/G]TGACACATATTTGTGGATTGGATAT 101550159 NCBI Build 36.2 Human 10q2,10q24,10q24.2,10q24.2c,10q 10 0 .03 0 0 Homo sapiens C__25592629_20 SLC7A7 LPI|LAT3|Y+LAT1|y+LAT-1 C/T MIM:603593|PharmGKB:PA35925 hCV25592629 UTR 5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 NM_003982 TCAACCATGGTGGAGGAGAGGAAAC[C/T]CTTCACCAGCTTCCTGGCATTGCCC 22352465 NCBI Build 36.2 Human 14q11,14q1,14q11.2,14q11.2f,14q 14 0 0 0 0 Homo sapiens C__25592987_10 CYP3A43 MGC119315|MGC119316 C/T || MIM:606534 hCV25592987 UTR 5|UTR 5|UTR 5 cytochrome P450, family 3, subfamily A, polypeptide 43 NM_022820|NM_057095|NM_057096 ATCACCTCTGGGCAGAGAAACAAAG[C/T]TCTATATGCACAGCCCAGCAAAGAG 99263594 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 .08 0 0 Homo sapiens C__25592988_10 CYP3A43 MGC119315|MGC119316 CYP3A43*1B,g.33518C>T C/T A349A|A349A|A349A MIM:606534 rs17342647 hCV25592988 Silent Mutation|Silent Mutation|Silent Mutation cytochrome P450, family 3, subfamily A, polypeptide 43 NM_022820|NM_057095|NM_057096 CCCAGGCACCTGTCACCTACGATGC[C/T]CTGGTACAGATGGAGTACCTTGACA 99297192 NCBI Build 36.2 Human 7q,7q22.1b,7q22.1,7q22,7q2 7 .08 .02 0 0 Homo sapiens C__25592999_20 CYP3A43 MGC119315|MGC119316 G/T M145I|M145I|M145I MIM:606534 hCV25592999 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 43 NM_022820|NM_057095|NM_057096 CTATGGGTGGTGTTGTGTTTTAGAT[G/T]GTCCCCATCATTTCCCAATGTGGAG 99283727 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 .04 0 0 Homo sapiens C__25593852_10 ABCB8 MABC1|M-ABC1|EST328128 A/G MIM:605464 hCV25593852 ATP-binding cassette, sub-family B (MDR/TAP), member 8 NM_007188 CATAACCCCTCACCCACAGGAGCCC[A/G]TCCTGTTTGGGACGACCATCATGGA 150369987 NCBI Build 36.2 Human 7q3,7q36.1,7q36,7q36.1d,7q 7 .02 0 .02 0 Homo sapiens C__25593853_20 ABCB8 MABC1|M-ABC1|EST328128 A/G MIM:605464 rs4148844 hCV25593853 ATP-binding cassette, sub-family B (MDR/TAP), member 8 NM_007188 CCACCTGCTGGTCCTGGGGGTAGCC[A/G]TCGTGGTGAGGCTTTCCCCACTTCT 150361932 NCBI Build 36.2 Human 7q3,7q36.1,7q36,7q36.1d,7q 7 .02 .04 .09 .02 Homo sapiens C__25593861_20 ABCB8 MABC1|M-ABC1|EST328128 A/G MIM:605464 hCV25593861 ATP-binding cassette, sub-family B (MDR/TAP), member 8 NM_007188 TTGGTTCTTGTCCCATGCCAGACAA[A/G]ACATCACCTTCTTTGACGCCAATAA 150362748 NCBI Build 36.2 Human 7q3,7q36.1,7q36,7q36.1d,7q 7 0 0 0 0 Homo sapiens C__25593870_10 ABCB8 MABC1|M-ABC1|EST328128 C/T MIM:605464 rs17545756 hCV25593870 ATP-binding cassette, sub-family B (MDR/TAP), member 8 NM_007188 GGGCTCAGGCCTCCGAAAATTGTCT[C/T]GCCAGTGTCAGGAGCAGGTACCGGC 150363745 NCBI Build 36.2 Human 7q3,7q36.1,7q36,7q36.1d,7q 7 .06 0 0 .03 Homo sapiens C__25593872_20 ABCB8 MABC1|M-ABC1|EST328128 T/G MIM:605464 hCV25593872 ATP-binding cassette, sub-family B (MDR/TAP), member 8 NM_007188 TGCTGCGTCCCCAAAGAGCAGCTGC[T/G]TGGCTCCGTTACATTTCAGAACGTC 150368621 NCBI Build 36.2 Human 7q3,7q36.1,7q36,7q36.1d,7q 7 0 .01 0 0 Homo sapiens C__25594064_10 CYP51A1 LDM|CP51|CYP51|CYPL1|P450L1|P450-14DM C/G MIM:601637 rs7793861 hCV25594064 UTR 3 cytochrome P450, family 51, subfamily A, polypeptide 1 NM_000786 TCTGCCAATTACCTAGATCCCCCCT[C/G]AACAATTGTTTCACCAAGGAACTTC 91580664 NCBI Build 36.2 Human 7q2,7q21,7q21.2,7q21.2a,7q 7 .43 .45 .13 .11 Homo sapiens C__25594075_20 CYP51A1 LDM|CP51|CYP51|CYPL1|P450L1|P450-14DM A/G Y296Y MIM:601637 hCV25594075 Silent Mutation cytochrome P450, family 51, subfamily A, polypeptide 1 NM_000786 TATGTTATCTGAATAGCTCTTACTT[A/G]TATGTAGCATCTAGTAAAGTTTGGA 91590986 NCBI Build 36.2 Human 7q2,7q21,7q21.2,7q21.2a,7q 7 0 0 0 0 Homo sapiens C__25594077_10 CYP51A1 LDM|CP51|CYP51|CYPL1|P450L1|P450-14DM A/G P437S MIM:601637 hCV25594077 Mis-sense Mutation cytochrome P450, family 51, subfamily A, polypeptide 1 NM_000786 TAGGCAAACTTTTCCCCTGATGCTG[A/G]GTTATCCTGTAAGTAGCGATCAGGA 91584336 NCBI Build 36.2 Human 7q2,7q21,7q21.2,7q21.2a,7q 7 .01 0 0 0 Homo sapiens C__25594086_20 ALDH3B1 ALDH4|ALDH7|FLJ26433 C/T S97S|S60S MIM:600466 rs34280013 hCV25594086 Silent Mutation|Silent Mutation aldehyde dehydrogenase 3 family, member B1 NM_000694|NM_001030010 CGGCCCAGGCCACGCAGCTGGACTC[C/T]GCCTTCATCCGGAAGGAGCCCTTTG 67542835 NCBI Build 36.2 Human 11q1,11q13,11q13.2a,11q13.2,11q 11 0 .03 0 0 Homo sapiens C__25594209_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E CYP2E1*7B,g.-71G>T T/G MIM:124040|PharmGKB:PA129 rs6413420 hCV25594209 cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 GGTTGGTGGGTCACCCTCCTTCTCA[T/G]AACACATTATAAAAACCTTCCGTTT 135190819 NCBI Build 36.2 Human 10q2,10q26,10q26.3,10q26.3f,10q 10 .02 0 0 0 Homo sapiens C__25594238_20 SLC29A2 ENT2|DER12|HNP36 A/G G168G MIM:602110|PharmGKB:PA191 hCV25594238 Silent Mutation solute carrier family 29 (nucleoside transporters), member 2 NM_001532 CAAGGGCAGCAAAGATCCCAGCCAG[A/G]CCCTGGCCGCTGAGGAAGAGGGTGC 65892630 NCBI Build 36.2 Human 11q,11q13.1e,11q13,11q13.1,11q1 11 0 0 0 0 Homo sapiens C__25594249_20 SLC29A2 ENT2|DER12|HNP36 A/G P309P MIM:602110|PharmGKB:PA191 rs8187661 hCV25594249 Silent Mutation solute carrier family 29 (nucleoside transporters), member 2 NM_001532 AGCTGGTCACCATGGCTGTGATGGC[A/G]GGGAAGACGGACAGGGTGACTGTGA 65890219 NCBI Build 36.2 Human 11q1,11q13.1,11q13,11q13.1e,11q 11 0 .05 0 0 Homo sapiens C__25594333_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 A/G I183V MIM:123930|PharmGKB:PA123 hCV25594333 Mis-sense Mutation cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 TACCGCCAACATCATCTGCTCCATC[A/G]TCTTTGGAAAACGATTCCACTACCA 46204712 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 .01 0 0 0 Homo sapiens C__25598603_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|MGC45260 A/G P104L|P104L|L104P|P104L MIM:607582|PharmGKB:PA388 rs11568627 hCV25598603 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation solute carrier family 22 (organic anion transporter), member 6 NM_004790|NM_153276|NM_153277|NM_153278 GTCATAGATCCAGCCATCGGTGCAG[A/G]GCTCTGTGGCCCCTGTGCCATTGGC 62508428 NCBI Build 36.2 Human 11q1,11q12,11q12.3,11q12.3b,11q 11 .01 0 0 0 Homo sapiens C__25951871_10 ABCB8 MABC1|M-ABC1|EST328128 G/T MIM:605464 hCV25951871 ATP-binding cassette, sub-family B (MDR/TAP), member 8 NM_007188 GCCCCACCGCCCAAAAAGCCAGAAG[G/T]CCCCAGGAGCCACCAGCACAAGTCC 150373341 NCBI Build 36.2 Human 7q,7q36.1d,7q36,7q36.1,7q3 7 .06 0 0 .03 Homo sapiens C__25952525_20 GSTM2 GST4|GSTM|GTHMUS|GSTM2-2|MGC117303 C/T N74N MIM:138380|PharmGKB:PA29023 rs592792 hCV25952525 Silent Mutation glutathione S-transferase M2 (muscle) NM_000848 GGACTCACAAGATCACCCAGAGCAA[C/T]GCCATCCTGCGGTACATTGCCCGCA 110013479 NCBI Build 36.2 Human 1p13,1p1,1p13.3,1p13.3b,1p 1 .15 .22 0 0 Homo sapiens C__25954367_20 SLC28A3 CNT3 A/G S374S MIM:608269|PharmGKB:PA426 rs7043492 hCV25954367 Silent Mutation solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NM_022127 CAAAAGAAATGTATGCACCTAGCAC[A/G]CTTCCAGCAATGGTAGAGAACCCGG 86094916 NCBI Build 36.2 Human 9q2,9q21,9q21.3,9q21.32,9q21.32c,9q 9 0 .03 0 0 Homo sapiens C__25954718_20 SLC28A3 CNT3 A/T Y513F MIM:608269|PharmGKB:PA426 hCV25954718 Mis-sense Mutation solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NM_022127 CACAAATTCATTGAAGAAGGTCTTA[A/T]AACCTATGAGTCTGGCAACCATAAA 86090189 NCBI Build 36.2 Human 9q2,9q21,9q21.3,9q21.32,9q21.32c,9q 9 .05 .13 .07 .13 Homo sapiens C__25954789_20 SLC28A3 CNT3 C/T N5S MIM:608269|PharmGKB:PA426 rs11568403 hCV25954789 Mis-sense Mutation solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NM_022127 GCCCTCAGCTCTGGGGGCTGCTGTA[C/T]TCCTCAGCTCCATGCTCTTTTTGCT 86145355 NCBI Build 36.2 Human 9q,9q21.33a,9q21.33,9q21.3,9q21,9q2 9 .01 .04 0 0 Homo sapiens C__25954882_20 SLC28A3 CNT3 C/T Y113C MIM:608269|PharmGKB:PA426 rs10868138 hCV25954882 Mis-sense Mutation solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NM_022127 ACAGGCCGAAATCACCATAACCAGA[C/T]AACCTGTCCAGGAAGCAAAAACAGA 86107121 NCBI Build 36.2 Human 9q2,9q21,9q21.3,9q21.33,9q21.33a,9q 9 .06 .18 .07 .09 Homo sapiens C__25955198_20 ABCC13 PRED6|C21orf73 A/G MIM:608835 hCV25955198 ATP-binding cassette, sub-family C (CFTR/MRP), member 13 TGCCCCTTTTCAAATCCTAATGGCC[A/G]TATATCTCCTTTGGCAAGAGCTGGG 14593763 NCBI Build 36.2 Human 21q1,21q11,21q11.2,21q11.2c,21q 21 .01 0 0 0 Homo sapiens C__25956034_20 ABCB9 TAPL|KIAA1520|EST122234 G/T || MIM:605453 hCV25956034 || ATP-binding cassette, sub-family B (MDR/TAP), member 9 NM_019624|NM_019625|NM_203444 GCTTCACCATGGCATAGATGCCCAC[G/T]AAGAGGCACACGAGGGTGATGACCA 122010460 NCBI Build 36.2 Human 12q2,12q24,12q24.31,12q24.3,12q24.31d,12q 12 0 .01 0 0 Homo sapiens C__25956322_20 ABCB9 TAPL|KIAA1520|EST122234 A/T || MIM:605453 hCV25956322 || ATP-binding cassette, sub-family B (MDR/TAP), member 9 NM_019624|NM_019625|NM_203444 CGCCCTCACCTGCAGGACCTGGGTG[A/T]GGGGCCGAGTGCGGTAGGTGAAGGT 121991323 NCBI Build 36.2 Human 12q2,12q24,12q24.31,12q24.3,12q24.31d,12q 12 0 0 0 0 Homo sapiens C__25956323_20 SLC22A8 OAT3|MGC24086 C/T L317L MIM:607581|PharmGKB:PA389 hCV25956323 Silent Mutation solute carrier family 22 (organic anion transporter), member 8 NM_004254 TGCGGCGCAGCATGGGTATCCGGAA[C/T]AGGTCACTTGCGGTGTACTTGGCCT 62519802 NCBI Build 36.2 Human 11q1,11q12,11q12.3,11q12.3b,11q 11 .02 0 0 0 Homo sapiens C__25956395_10 UGT1A4 UDPGT|UGT1D|HUG-BR2 C/T H68Y MIM:606429 hCV25956395 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A4 NM_007120 GGTCCTCACCCCAGAGGTGAATATG[C/T]ACATCAAAGAAGAGAAATTTTTCAC 234292407 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 .01 0 0 0 Homo sapiens C__25957098_20 ABCC12 MRP9|MGC27071 C/T D734G MIM:607041 hCV25957098 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 AGGGATGGGATTCTAACCGATTATA[C/T]CAGCATCTTCCTCTCTCTCAGCAGG 46702998 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 0 0 0 Homo sapiens C__25957356_20 ABCC12 MRP9|MGC27071 A/G I163I MIM:607041 rs16945872 hCV25957356 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 TGGCAAAAAGGGCTATGCACAGTCC[A/G]ATGCCAACCCAGACTTTCCCAGAGG 46732267 NCBI Build 36.2 Human 16q,16q12.1a,16q12,16q12.1,16q1 16 0 .11 0 0 Homo sapiens C__25957795_20 ABCC12 MRP9|MGC27071 C/T T357A MIM:607041 hCV25957795 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 TGGCAGGATAATGTCAGCACGATGG[C/T]TATGGTGGACACGATGGGGGCCAGG 46725158 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 0 0 0 Homo sapiens C__25958386_20 SLC28A1 CNT1|HCNT1 C/T H339H| MIM:606207|PharmGKB:PA387 rs3803390 hCV25958386 Silent Mutation| solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 NM_004213|NM_201651 CAGACATGACACTCTCTGAAGTCCA[C/T]GTTGTCATGACCGGAGGTTACGCCA 83268279 NCBI Build 36.2 Human 15q2,15q25,15q25.3,15q25.3a,15q 15 .07 .05 .47 .42 Homo sapiens C__25959349_20 UGT1A7 UDPGT|UGT1G UGT1A7*5,g.343G>A|UGT1A7*9,g.343G>A A/G S115G MIM:606432|PharmGKB:PA37182 hCV25959349 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A7 NM_019077 TTCTCTATTAACAAGTTCATCCAAT[A/G]GTATTTTTGACTTATTTTTTTCAAA 234255665 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 .01 0 0 Homo sapiens C__25959354_20 ABCC12 MRP9|MGC27071 G/T E1191A MIM:607041 rs16945787 hCV25959354 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 CACAGTCAGCTTGGTTCTGAGGTCT[G/T]CCAAGCTGAGAATGCAGATATCCAC 46679401 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .05 0 0 Homo sapiens C_____11784_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T R228C|R228C MIM:609523 hCV11784 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 CTGTTCTGGATGTTTTCCCCTCAGA[C/T]GCATAACCTGGGGAAAATACATGAA 19501651 NCBI Build 36.2 Human 17p1,17p11.2,17p11,17p11.2d,17p 17 0 0 0 0 Homo sapiens C_____11785_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G Y237C|Y237C MIM:609523 hCV11785 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 ATAACCTGGGGAAAATACATGAATT[A/G]TGGCCAAACCTGCATTGCACCCGAC 19501679 NCBI Build 36.2 Human 17p1,17p11.2,17p11,17p11.2d,17p 17 0 0 0 0 Homo sapiens C_____12336_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T S365L|S365L MIM:609523 hCV12336 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 AAGCCTCTGGCTCTTTATGTATTTT[C/T]GCATAACCATAAGGTAAGCTTTAGA 19507391 NCBI Build 36.2 Human 17p1,17p11.2,17p11,17p11.2d,17p 17 0 0 0 0 Homo sapiens C_____12337_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/G I328M|I328M MIM:609523 hCV12337 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 ATGTTGATCCTAAAACCAAGGTGAT[C/G]CAAGAAGAAATTTTTGGACCAATTC 19507281 NCBI Build 36.2 Human 17p1,17p11.2,17p11,17p11.2d,17p 17 0 0 0 0 Homo sapiens C____938234_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G T857I|T695I MIM:606882 hCV938234 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 CATGAAACAAGCCATCTCACCTGTG[A/G]TGAGGGACTCATCAGCCATGGTATT 51422414 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938236_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G A874V|A712V MIM:606882 hCV938236 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 AGAGCCATGTGCATTTATAGACCCC[A/G]CAATTACAGTGCTTCCGGGTTTCTT 51422253 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938237_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/C G891V|G729V MIM:606882 hCV938237 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 AATCTGAGCCAAAGTGGTGTCATTG[A/C]CCACGTGGGTAGCTTTAATGAGCAC 51422202 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938240_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T N921S| MIM:606882 hCV938240 Mis-sense Mutation|Intron ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GATGATAAATGGGACAAAATATCCA[C/T]TAAACCGGTCAGCCAGCTGCTGAAT 51421902 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938241_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 G/T T933P| MIM:606882 hCV938241 Mis-sense Mutation|Intron ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 ACAATCCATACCACCAACGTCAAAG[G/T]TGACATGATGATGATAAATGGGACA 51421867 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938242_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/T *936L| MIM:606882 hCV938242 Nonsense Mutation|Intron ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 AAAACCGATTACAATCCATACCACC[A/T]ACGTCAAAGTTGACATGATGATGAT 51421857 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 0 0 0 0 Homo sapiens C____938245_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/T I967F|I760F MIM:606882 hCV938245 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GACGTCTGGAAAGCAAACCGGATGA[A/T]CACCTCTGTCTGGGAGATGTGCTTG 51418582 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 .02 .02 Homo sapiens C____938246_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T Q969R|Q762R MIM:606882 hCV938246 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 CGTGATGGACGTCTGGAAAGCAAAC[C/T]GGATGATCACCTCTGTCTGGGAGAT 51418575 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938247_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G M977T|T770M MIM:606882 hCV938247 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GCAGGGGCAGGCAATGCACAGCACC[A/G]TGATGGACGTCTGGAAAGCAAACCG 51418551 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938252_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G A1018V|A811V MIM:606882 hCV938252 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GCCGTGCTACAGGCTGACCTTGTGC[A/G]CCATCTCCAGGGGCTTGCCTCCCTT 51418428 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938255_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/C G1035V|G828V MIM:606882 hCV938255 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GAGCACCCGCATGACCCTGGGGACG[A/C]CATGGGTAATGGTGCCAGTCTTGTC 51416385 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938256_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T K1038R|K831R MIM:606882 hCV938256 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 CCCCAGCAGGAGCACCCGCATGACC[C/T]TGGGGACGCCATGGGTAATGGTGCC 51416376 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 .01 Homo sapiens C____938233_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G P840L|P678L MIM:606882 hCV938233 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GCCTTCCAGGACTTTCCCATCCACT[A/G]GAAACTTTCCCCCAGGGACCACCTT 51422465 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938260_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G P1052L|P845L MIM:606882 hCV938260 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 CACCACAGCCAGAACCTTCCTGAGG[A/G]GCAGTGTGGCCACATCCCCCAGCAG 51416334 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938261_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T E1061G|E854G MIM:606882 hCV938261 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GTGTTCACTGCTGGCCTCCGCAGTC[C/T]CCACCACAGCCAGAACCTTCCTGAG 51416307 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 0 0 0 0 Homo sapiens C____938265_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T E1068G|E861G MIM:606882 hCV938265 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GGTGACTGCCACGCCCAAGGGGTGT[C/T]CACTGCTGGCCTCCGCAGTCCCCAC 51416286 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938289_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T M1216V|M1009V MIM:606882 hCV938289 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 CGGTTGTCCCCCGTGATCAGAACCA[C/T]GTCCACACCCATGCTCTGCAGCGTG 51411241 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938293_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/C G1239V|G1032V MIM:606882 hCV938293 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GTGCGAAGGCAGCACCTCTGCAAAG[A/C]CTTTGTTGATGCCAACCTAAGACAA 51409800 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938294_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/C V1262F|V1055F MIM:606882 hCV938294 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 TTGACCCCATCCCCCACCATGGCGA[A/C]TTTCTTCCCTTTATTCTGGAGCTCC 51409732 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938299_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G P1273L|P1066L MIM:606882 hCV938299 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 ACCCATGTCTGCCTGGGCCAAGGCC[A/G]GGGAGTCATTGACCCCATCCCCCAC 51409698 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938301_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 G/T S1310R|S1103R MIM:606882 hCV938301 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 ACAGTCCTCTTGGAAAGGTGAATGC[G/T]AGCCACCACATCCAGCAAATCATTC 51409506 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938303_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/G P1322R|P1115R MIM:606882 hCV938303 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 AATCAGTGCCAGGACCAGGTTGATG[C/G]GTATCCTTCGGACAGTCCTCTTGGA 51409469 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 0 0 0 0 Homo sapiens C____938304_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/G L1327V|L1120V MIM:606882 hCV938304 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 CCAACCAGGTTATAAATCAGTGCCA[C/G]GACCAGGTTGATGCGTATCCTTCGG 51409455 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938305_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T | MIM:606882 hCV938305 Donor Splice Site|Donor Splice Site ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GAGCACAGTGGGTAAGAGCTGCCTA[C/T]CTGCTGCAATGGGTATCCCAACCAG 51409412 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938307_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T S1355G|S1148G MIM:606882 hCV938307 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GAGGAGGCTGCCATGGCCGCTGAGC[C/T]CATCCAGGGCTGCAGCACAATGCCG 51407791 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 0 0 0 0 Homo sapiens C____938311_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G T1434M|T1227M MIM:606882 hCV938311 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GCTGTGCCGAGATGGCTTGTCGGAC[A/G]TCAGGGAGGACAGCGACACCTGGCT 51406990 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 .01 0 .02 0 Homo sapiens C____968208_30 CHST9 GALNAC4ST-2 G/T MIM:610191 rs418546 hCV968208 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 NM_031422 CTTAGGTACCTCACAATATAAGATT[G/T]TGTGTTTATCTTCTACATAGATTCT 22750915 NCBI Build 36.2 Human 18q1,18q11,18q11.2,18q11.2e,18q 18 0 0 0 0 Homo sapiens C____968209_30 CHST9 GALNAC4ST-2 G/T MIM:610191 rs417808 hCV968209 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 NM_031422 TGATCCCCTCCTTGTGAATGACTGG[G/T]CTTTGTTAAGAGCCTAGTAGATCTC 22751222 NCBI Build 36.2 Human 18q1,18q11,18q11.2,18q11.2e,18q 18 0 0 0 0 Homo sapiens C_____11781_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/G A185G|A185G MIM:609523 hCV11781 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 CGATTTGACCACATTTTCTATACGG[C/G]AAACACTGCGGTTGGCAAAATTGTC 19500353 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C_____11782_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G Y214C|Y214C MIM:609523 hCV11782 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 CTTGAACTGGGAGGGAAAAGTCCAT[A/G]TTATATTGATAAAGATTGTGACCTG 19500440 NCBI Build 36.2 Human 17p1,17p11.2,17p11,17p11.2d,17p 17 0 0 0 0 Homo sapiens C___3240199_30 SLC5A6 SMVT A/G S481F MIM:604024 rs1395 hCV3240199 Mis-sense Mutation solute carrier family 5 (sodium-dependent vitamin transporter), member 6 NM_021095 ATTAGAGGGAGAGGGTGGCATGCTG[A/G]AGCCCATGCTGGTCACGATGCTCCC 27278140 NCBI Build 36.2 Human 2p2,2p23.3,2p23,2p23.3a,2p 2 .29 .27 .13 .19 Homo sapiens C___3279863_30 XDH XO|XOR A/G F1010F MIM:607633|PharmGKB:PA37404 rs1884725 hCV3279863 Silent Mutation xanthine dehydrogenase NM_000379 TTACCTGATTCAGAAAAGGAACTGT[A/G]AAGCTTATTCCAAACTTGGTGGGAA 31425290 NCBI Build 36.2 Human 2p2,2p23,2p23.1,2p23.1a,2p 2 .23 .2 .12 .23 Homo sapiens C___3291283_40 CYP2A13 CPAD|CYP2A CYP2A13*1H,g.7233T>G|CYP2A13*2B,g.7233T>G|CYP2A13*3,g.7233T>G G/T MIM:608055 rs1709082 hCV3291283 Intron cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 GAGTGCAGCCGGGGGTCAGTAGGGG[G/T]TGAGGCTGCACTGAGAGTGGGCTTC 46293449 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .08 .44 .06 .07 Homo sapiens C___3291304_30 CYP2F1 C2F1|CYP2F|MGC126121 A/G P32P MIM:124070 rs305968 hCV3291304 Silent Mutation cytochrome P450, family 2, subfamily F, polypeptide 1 NM_000774 CAAGAGATAAGGGAAAGCTGCCTCC[A/G]GGACCCAGACCCCTCTCAATCCTGG 46314029 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .34 .44 .35 .27 Homo sapiens C___7422622_30 ABCB7 ABC7|ASAT|Atm1p|EST140535 A/G F360F MIM:300135|PharmGKB:PA24389 rs1054919 hCV7422622 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 7 NM_004299 ATGAAGCAGTCTCATACGTCTTCAA[A/G]AATCCATCATATCTCTGTGCTTCAT 74208199 NCBI Build 36.2 Human Xq1,Xq13,Xq13.3,Xq13.3a,Xq X 0 0 0 0 Homo sapiens C___7422630_20 ABCB7 ABC7|ASAT|Atm1p|EST140535 A/C G291C MIM:300135|PharmGKB:PA24389 hCV7422630 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 7 NM_004299 AGGGTTACCAAAGCAAACTGGGCAC[A/C]GCATTTGTAATACTAGAAAAGGAAG 74210504 NCBI Build 36.2 Human Xq1,Xq13,Xq13.3,Xq13.3a,Xq X 0 0 0 0 Homo sapiens C___7422632_30 ABCB7 ABC7|ASAT|Atm1p|EST140535 C/T K259R MIM:300135|PharmGKB:PA24389 rs1054913 hCV7422632 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 7 NM_004299 AGCACTCAGGACAAAACTGATACCC[C/T]TTGTTCCTCTGTCAATAGCCTTAGA 74212004 NCBI Build 36.2 Human Xq1,Xq13,Xq13.3,Xq13.3a,Xq X 0 0 0 0 Homo sapiens C___7461507_30 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G MIM:605250|PharmGKB:PA397 rs1059751 hCV7461507 UTR 3 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 ATACAGCCCAAACCAAAAGGCTTAC[A/G]GTCAACAGAGGGTTAGCCTTCCATA 94470951 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 .44 .26 .48 .44 Homo sapiens C___7461512_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G MIM:605250|PharmGKB:PA397 rs1059754 hCV7461512 UTR 3 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 CATCTGTTGCTCTCTGCTGATGAGC[A/G]AAAAACTTGCTATACGAAGGACAAA 94470479 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 0 0 0 Homo sapiens C___7466330_30 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G F948F MIM:605250|PharmGKB:PA397 rs1189466 hCV7466330 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 CACAGATGGCATCCAGACGGACGGC[A/G]AACCAGCGGGACGTTGTCAAAAACA 94524542 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 .06 .09 .22 .13 Homo sapiens C___7466337_30 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T L904L MIM:605250|PharmGKB:PA397 rs1678339 hCV7466337 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 TCCAGAGCCCCTGGAGAGAAGATGA[C/T]AAGTGGGAAAACACTGGACTCCGAG 94525781 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 .07 .14 .23 .12 Homo sapiens C___7466669_30 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G Y499Y MIM:605250|PharmGKB:PA397 rs1557070 hCV7466669 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 TGACTTTTTCATATCGTTCCTTTTC[A/G]TATTTCTTCCCAAATAAAATATTAC 94637004 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 .26 0 0 Homo sapiens C___7468401_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E T/C I321I MIM:124040|PharmGKB:PA129 rs915909 hCV7468401 Silent Mutation cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 TGATTCTCATGAAATACCCTGAGAT[T/C]GAAGGTAGGCAAGTGACTGAAGGGA 135197387 NCBI Build 36.2 Human 10q2,10q26,10q26.3,10q26.3f,10q 10 0 .1 0 0 Homo sapiens C___7470967_20 ALDH3B1 ALDH4|ALDH7|FLJ26433 A/G P433P|P396P MIM:600466 rs308341 hCV7470967 Silent Mutation|Silent Mutation aldehyde dehydrogenase 3 family, member B1 NM_000694|NM_001030010 ATCGCGCCTGCCTCCTGCGCAGCCC[A/G]GGGATGGAGAAGCTCAACGCCCTCC 67551875 NCBI Build 36.2 Human 11q1,11q13,11q13.2a,11q13.2,11q 11 .15 .28 .28 .22 Homo sapiens C___8856110_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 C/G P195R|P195R MIM:274180|PharmGKB:PA349 rs1042561 hCV8856110 Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 CCACAGATGTGGTTGCCAGCGTCGC[C/G]TTTGGCACCCCGGTGGACTCCTGGC 139301769 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 0 0 0 0 Homo sapiens C___8870301_30 CYP11A1 CYP11A|P450SCC C/G | MIM:118485 rs1049968 hCV8870301 | cytochrome P450, family 11, subfamily A, polypeptide 1 NM_000781|NM_001099773 TGCTGTCTCCCAGGAGTCTGTAGAG[C/G]ATGCCACGGTAATCGTGGTGAACAC 72422458 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 0 0 0 0 Homo sapiens C___8878782_10 MAOB RP1-201D17__B.1|MGC26382 C/G MIM:309860 rs1181251 hCV8878782 monoamine oxidase B NM_000898 TTCTGGGCCTCGATCCCAGTCCTGC[C/G]TGCCAGCCAGCCCGCCCGCCTGCCC 43626560 NCBI Build 36.2 Human Xp11,Xp1,Xp11.3,Xp11.3c,Xp X 0 0 0 0 Homo sapiens C___8878812_30 MAOA RP1-201D17__B.2 A/G K520R MIM:309850 rs1800466 hCV8878812 Mis-sense Mutation monoamine oxidase A NM_000240 ACTGCCCTGGGGTTTGTGCTGTACA[A/G]ATACAAGCTCCTGCCACGGTCTTGA 43488679 NCBI Build 36.2 Human Xp11,Xp1,Xp11.3,Xp11.3c,Xp X 0 0 0 0 Homo sapiens C___8878813_20 MAOA RP1-201D17__B.2 C/T D470D MIM:309850 rs1137070 hCV8878813 Silent Mutation monoamine oxidase A NM_000240 GTCTCGGGAAGGTGACCGAGAAAGA[C/T]ATCTGGGTACAAGAACCTGAATCAA 43488335 NCBI Build 36.2 Human Xp11,Xp1,Xp11.3,Xp11.3c,Xp X .33 .29 .48 .4 Homo sapiens C___8878814_10 MAOA RP1-201D17__B.2 G/T M445I MIM:309850 rs1803986 hCV8878814 Mis-sense Mutation monoamine oxidase A NM_000240 CTGCCACAAAGTGGAGCGGCTACAT[G/T]GAAGGGGCAGTTGAGGCTGGAGAAC 43488057 NCBI Build 36.2 Human Xp11,Xp1,Xp11.3,Xp11.3c,Xp X 0 0 0 0 Homo sapiens C___8878820_20 MAOA RP1-201D17__B.2 A/T P342P MIM:309850 rs1800465 hCV8878820 Silent Mutation monoamine oxidase A NM_000240 CAATAACCTTGGATGACACCAAGCC[A/T]GATGGGTCACTGCCTGCCATCATGG 43476960 NCBI Build 36.2 Human Xp11,Xp1,Xp11.3,Xp11.3c,Xp X 0 0 0 0 Homo sapiens C___8879532_20 CYP1A1 AHH|AHRR|CP11|CYP1|P1-450|P450-C|P450DX CYP1A1*3,g.3205T>C A/G MIM:108330 rs1800031 hCV8879532 UTR 3 cytochrome P450, family 1, subfamily A, polypeptide 1 NM_000499 ACAGCAATAAGGGTCTTACAAGGCC[A/G]GAAGGCAGCCCTGTTTGTTCCTGCC 72799288 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 0 0 0 0 Homo sapiens C___8890129_20 POR DKFZp686G04235|CPR|CYPOR|P450R|FLJ26468 A/G P129P MIM:124015|PharmGKB:PA33532 rs1135612 hCV8890129 Silent Mutation P450 (cytochrome) oxidoreductase NM_000941 TGCAGGCCGACCTGAGCAGCCTGCC[A/G]GAGATCGACAACGCCCTGGTGGTTT 75447613 NCBI Build 36.2 Human 7q1,7q11,7q11.2,7q11.23,7q11.23e,7q 7 .27 .11 .4 .42 Homo sapiens C___8890131_30 POR DKFZp686G04235|CPR|CYPOR|P450R|FLJ26468 C/T A503V MIM:124015|PharmGKB:PA33532 rs1057868 hCV8890131 Mis-sense Mutation P450 (cytochrome) oxidoreductase NM_000941 AACTGGCTGCGGGCCAAGGAGCCTG[C/T]CGGGGAGAACGGCGGCCGTGCGCTG 75452942 NCBI Build 36.2 Human 7q,7q11.23e,7q11.23,7q11.2,7q11,7q1 7 .21 .26 .47 .32 Homo sapiens C___8890132_10 POR DKFZp686G04235|CPR|CYPOR|P450R|FLJ26468 C/T MIM:124015|PharmGKB:PA33532 rs13921 hCV8890132 UTR 3 P450 (cytochrome) oxidoreductase NM_000941 CACCGGGCTCCATGCCTCTGGAGGC[C/T]TCTGGCCCTCGGTGGCTGCACAGAA 75453975 NCBI Build 36.2 Human 7q1,7q11,7q11.2,7q11.23,7q11.23e,7q 7 0 0 0 0 Homo sapiens C___8890133_30 POR DKFZp686G04235|CPR|CYPOR|P450R|FLJ26468 A/G MIM:124015|PharmGKB:PA33532 rs17685 hCV8890133 UTR 3 P450 (cytochrome) oxidoreductase NM_000941 GCTGAGCTGGGCCCAGCCCCTCCAC[A/G]TGATTTCCAGTGAGTGTAAATAATT 75454041 NCBI Build 36.2 Human 7q1,7q11,7q11.2,7q11.23,7q11.23e,7q 7 .21 .26 .42 .31 Homo sapiens C___8899071_30 XDH XO|XOR C/G P1150R MIM:607633|PharmGKB:PA37404 rs1042036 hCV8899071 Mis-sense Mutation xanthine dehydrogenase NM_000379 CACCCCATAGCTGAAGTAGTGGAAG[C/G]GGTTCCCTGAGTTAGTCTCAAAGCT 31418623 NCBI Build 36.2 Human 2p2,2p23,2p23.1,2p23.1a,2p 2 0 0 0 0 Homo sapiens C___8899082_20 XDH XO|XOR A/T H191L MIM:607633|PharmGKB:PA37404 rs1126469 hCV8899082 Mis-sense Mutation xanthine dehydrogenase NM_000379 CTCTGGTTTGAATAAAGATGGCGAG[A/T]GGCTGACCTATGGGGAAAGAGAACA 31464260 NCBI Build 36.2 Human 2p2,2p23,2p23.1,2p23.1a,2p 2 0 0 0 0 Homo sapiens C___8906985_30 SULT1C4 SULT1C|SULT1C2|MGC34422|MGC149521 C/G D5E MIM:608357|PharmGKB:PA414 rs1402467 hCV8906985 Mis-sense Mutation sulfotransferase family, cytosolic, 1C, member 4 NM_006588 TTCTTACACTAATGGCCTTACACGA[C/G]ATGGAGGATTTTACATTTGATGGAA 108361240 NCBI Build 36.2 Human 2q,2q12.3c,2q12.3,2q12,2q1 2 .31 .21 .3 .05 Homo sapiens C___8907009_40 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 C/G | MIM:602385|PharmGKB:PA345 rs1047311 hCV8907009 UTR 3|UTR 3 sulfotransferase family, cytosolic, 1C, member 2 NM_001056|NM_176825 TATTTGTCCCAGTTGCAGCCCTGTT[C/G]TTATGTATTTACTCTTCAATTTCTT 108292184 NCBI Build 36.2 Human 2q,2q12.3c,2q12.3,2q12,2q1 2 0 0 0 0 Homo sapiens C___8907011_30 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 C/G | MIM:602385|PharmGKB:PA345 rs1047310 hCV8907011 UTR 3|UTR 3 sulfotransferase family, cytosolic, 1C, member 2 NM_001056|NM_176825 CCATATTTGTCCCAGTTGCAGCCCT[C/G]TTGTTATGTATTTACTCTTCAATTT 108292181 NCBI Build 36.2 Human 2q1,2q12,2q12.3,2q12.3c,2q 2 0 0 0 0 Homo sapiens C___8907012_30 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 A/T | MIM:602385|PharmGKB:PA345 rs1047309 hCV8907012 UTR 3|UTR 3 sulfotransferase family, cytosolic, 1C, member 2 NM_001056|NM_176825 AGTAAAACGTATGACTTGAGTACAA[A/T]AGGATTGTTTTAATCCCCATTATTC 108291616 NCBI Build 36.2 Human 2q1,2q12,2q12.3,2q12.3c,2q 2 0 0 0 0 Homo sapiens C___8908992_30 NNMT A/C T245P MIM:600008|PharmGKB:PA251 rs1050207 hCV8908992 Mis-sense Mutation nicotinamide N-methyltransferase NM_006169 GGTGATCTCGCAAAGTTATTCTTCC[A/C]CCATGGCCAACAACGAAGGACTTTT 113688347 NCBI Build 36.2 Human 11q2,11q23,11q23.2,11q23.2b,11q 11 0 0 0 0 Homo sapiens C___3189037_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 C/G | MIM:603234 rs8058696 hCV3189037 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 ACCAGGCGAAGGTGGCACTGTGTAT[C/G]GTGATGCAATCCTTCCCGGCAGCTG 16186370 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 .42 .32 .15 .09 Homo sapiens C___3190086_20 CHST5 FLJ22167|MGC74625|I-GlcNAc-6-ST C/T MIM:604817 rs3784932 hCV3190086 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 NM_024533 GACCCGGGCCCTCATGCCCATCCCA[C/T]GCCCCAATTACTGCCCAGTGCCCTC 74121788 NCBI Build 36.2 Human 16q2,16q23.1,16q23.1a,16q23,16q 16 .19 .1 .17 .27 Homo sapiens C___3224490_30 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 A/G T503A| MIM:602783 rs2292954 hCV3224490 Mis-sense Mutation| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 GAGCCTGAAGCTGACCCAGTCCAGC[A/G]CCTTTTACTCCCAGCGTCTGGCAGA 88140624 NCBI Build 36.2 Human 16q2,16q24,16q24.3,16q24.3b,16q 16 .27 .06 .14 .16 Homo sapiens C__30906472_30 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 A/G I193I MIM:124010|PharmGKB:PA130 rs4987159 hCV30906472 Silent Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 GGTCTTGTGGATTGTTGAGAGAGTC[A/G]ATGTTCACTCCAAATGATGTGCTAG 99204004 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 .07 0 0 Homo sapiens C__30906488_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 A/T MIM:124010|PharmGKB:PA130 rs12721632 hCV30906488 UTR 5 cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 TCCTTACTTATCTCTCTCCTCTGAG[A/T]CTTCCTTTCAGCTCTGTGTTGCTCT 99219674 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30906489_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*1D,g.-62C>A G/T MIM:124010|PharmGKB:PA130 rs12721636 hCV30906489 UTR 5 cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 TCCTTTCAGCTCTGTGTTGCTCTTT[G/T]CTGGGCTATGTGCATGGAGCTTTCC 99219702 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30952587_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T S356N MIM:609506 rs13377933 hCV30952587 Mis-sense Mutation cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 CAGAACAGTGGCTGAGGGGTAGGCA[C/T]TGGAGCCAGGGCTCAGGGCAGCTGT 56444497 NCBI Build 36.2 Human 12q1,12q14.1a,12q14,12q14.1,12q 12 0 0 0 0 Homo sapiens C__30966814_10 MAOB RP1-201D17__B.1|MGC26382 G/T MIM:309860 rs12845783 hCV30966814 monoamine oxidase B NM_000898 GTCCTCCATTTGTTGTCGAGATGAT[G/T]CTTGTTGTGCCTCCACACTGCTTCA 43541343 NCBI Build 36.2 Human Xp11,Xp1,Xp11.3,Xp11.3c,Xp X 0 0 0 0 Homo sapiens C__30985403_10 HNMT HMT|HNMT-S1|HNMT-S2 C/T ||Y198Y MIM:605238|PharmGKB:PA190 rs11569725 hCV30985403 ||Silent Mutation histamine N-methyltransferase NM_001024074|NM_001024075|NM_006895 TTCCCCAGGATGACCTCTGCCAGTA[C/T]ATCACATCAGATGACCTCACTCAGA 138487885 NCBI Build 36.2 Human 2q2,2q22.1,2q22,2q22.1b,2q 2 0 0 0 0 Homo sapiens C__31035309_10 NNMT C/T D142D MIM:600008|PharmGKB:PA251 rs11569687 hCV31035309 Silent Mutation nicotinamide N-methyltransferase NM_006169 CGGTCAAGCAGGTGCTGAAGTGTGA[C/T]GTGACTCAGAGCCAGCCACTGGGGG 113688040 NCBI Build 36.2 Human 11q2,11q23,11q23.2,11q23.2b,11q 11 .01 0 0 0 Homo sapiens C__31052375_10 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/T | MIM:170998|PharmGKB:PA280 rs4253793 hCV31052375 UTR 5|UTR 5 peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 GAGCTCGGCGGCACAACCAGCACCA[C/T]CTGGTCGCGATGGTGGACACGGAAA 44972935 NCBI Build 36.2 Human 22q1,22q13,22q13.31,22q13.3,22q13.31d,22q 22 0 0 0 0 Homo sapiens C__31053787_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|MGC45260 C/T Q454R|Q454R|H454R|H454R MIM:607582|PharmGKB:PA388 rs11568634 hCV31053787 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation solute carrier family 22 (organic anion transporter), member 6 NM_004790|NM_153276|NM_153277|NM_153278 ATTCTCCCATTAGGCTCCCACTCAC[C/T]GGATCATTGTGGGATACAGTTCCCC 62503536 NCBI Build 36.2 Human 11q,11q12.3b,11q12.3,11q12,11q1 11 0 0 0 0 Homo sapiens C__31053790_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|MGC45260 A/G L411L|L411L|L411L|L411L MIM:607582|PharmGKB:PA388 rs11568619 hCV31053790 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation solute carrier family 22 (organic anion transporter), member 6 NM_004790|NM_153276|NM_153277|NM_153278 GCTCACCCTGGGGTATCACCCCATT[A/G]AGCAGGATGCAGATGCCTGCCAGCA 62503801 NCBI Build 36.2 Human 11q1,11q12,11q12.3,11q12.3b,11q 11 0 0 0 0 Homo sapiens C__31053817_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|MGC45260 A/G R293W|R293W|R293W|R293W MIM:607582|PharmGKB:PA388 rs11568612 hCV31053817 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation solute carrier family 22 (organic anion transporter), member 6 NM_004790|NM_153276|NM_153277|NM_153278 CCTTCTTCCCGCTTCCCATTGATCC[A/G]GGCGACTCTCTGCAGGGCCCTCAGG 62505352 NCBI Build 36.2 Human 11q1,11q12,11q12.3,11q12.3b,11q 11 0 0 0 0 Homo sapiens C__31053829_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|MGC45260 A/G T226I|T226I|T226I|T226I MIM:607582|PharmGKB:PA388 rs11568623 hCV31053829 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation solute carrier family 22 (organic anion transporter), member 6 NM_004790|NM_153276|NM_153277|NM_153278 CTGGCCCAGGCTGTAGACATAGCCA[A/G]TCAAGGTGCCCACGCAGGCCCGTGT 62506010 NCBI Build 36.2 Human 11q1,11q12,11q12.3,11q12.3b,11q 11 0 0 0 0 Homo sapiens C__31053856_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|MGC45260 A/C P84P|P84P|P84P|P84P MIM:607582|PharmGKB:PA388 rs11568628 hCV31053856 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation solute carrier family 22 (organic anion transporter), member 6 NM_004790|NM_153276|NM_153277|NM_153278 CATTGAGAAAGGGCAGTCCCCACTG[A/C]GGGGAGGTGAAGCGGAGGCAGGACT 62508487 NCBI Build 36.2 Human 11q,11q12.3b,11q12.3,11q12,11q1 11 .06 .01 .01 0 Homo sapiens C__31053858_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|MGC45260 A/G N60N|N60N|N60N|N60N MIM:607582|PharmGKB:PA388 rs11568630 hCV31053858 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation solute carrier family 22 (organic anion transporter), member 6 NM_004790|NM_153276|NM_153277|NM_153278 GGGGCAGCCAGACCTCCAGCCCCCC[A/G]TTCTTGCTGAGGTTGGCATCGGCAG 62508559 NCBI Build 36.2 Human 11q1,11q12,11q12.3,11q12.3b,11q 11 0 0 .03 .01 Homo sapiens C__11454076_40 FMO2 FLJ40826|FMO1B1 G/T K413N MIM:603955 rs2020865 hCV11454076 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 TGATGATGGACATTATCAAAAGGAA[G/T]GAAAAAAGAATTGACCTGTAAGAAT 169443536 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .1 .27 0 0 Homo sapiens C__11309432_20 GSTO1 P28|GSTTLp28|DKFZp686H13163 A/G K208E MIM:605482 rs11509438 hCV11309432 Mis-sense Mutation glutathione S-transferase omega 1 NM_004832 GAAACTGTGGATGGCAGCCATGAAG[A/G]AAGATCCCACAGTCTCAGCCCTGCT 106017049 NCBI Build 36.2 Human 10q2,10q25,10q25.1,10q25.1a,10q 10 .03 .04 .02 .01 Homo sapiens C__11310843_30 SLC15A2 PEPT2 C/T MIM:602339|PharmGKB:PA35812 rs1920313 hCV11310843 UTR 3 solute carrier family 15 (H+/peptide transporter), member 2 NM_021082 CCAAGAAGACAAAACTCTGATGACT[C/T]CCTAGATTCTGTCCTGACCCCAATT 123142550 NCBI Build 36.2 Human 3q1,3q13,3q13.3,3q13.33,3q13.33c,3q 3 0 .08 0 0 Homo sapiens C__11310844_30 SLC15A2 PEPT2 A/C M704L MIM:602339|PharmGKB:PA35812 rs1920314 hCV11310844 Mis-sense Mutation solute carrier family 15 (H+/peptide transporter), member 2 NM_021082 CTATGTTCCTGTAAAGACAGAGGAT[A/C]TGCGGGGTCCAGCAGATAAGCACAT 123142464 NCBI Build 36.2 Human 3q1,3q13,3q13.3,3q13.33,3q13.33c,3q 3 0 0 0 0 Homo sapiens C__11311731_20 SLC15A2 PEPT2 A/G A387A MIM:602339|PharmGKB:PA35812 rs1143670 hCV11311731 Silent Mutation solute carrier family 15 (H+/peptide transporter), member 2 NM_021082 AAATGGCTGTTGGTATGATCCTAGC[A/G]TGCCTGGCATTTGCAGTTGCGGCAG 123129331 NCBI Build 36.2 Human 3q1,3q13,3q13.3,3q13.33,3q13.33c,3q 3 .46 .49 .32 .28 Homo sapiens C__11311745_30 SLC15A2 PEPT2 C/T A47A MIM:602339|PharmGKB:PA35812 rs1143669 hCV11311745 Silent Mutation solute carrier family 15 (H+/peptide transporter), member 2 NM_021082 GCTCCAACTATCCACTGAGCATTGC[C/T]TTCATTGTGGTGAATGAATTCTGCG 123097978 NCBI Build 36.2 Human 3q1,3q13,3q13.3,3q13.33,3q13.33c,3q 3 0 0 0 0 Homo sapiens C__11349123_20 ADH5 FDH|ADHX|ADH-3 C/T MIM:103710 rs1154400 hCV11349123 alcohol dehydrogenase 5 (class III), chi polypeptide NM_000671 GCGGTGCTCGAGCTGTGGTGCGTGC[C/T]GCTAAGTTGTGCGTTCCAGGGTGCA 100229033 NCBI Build 36.2 Human 4q2,4q23,4q23a,4q 4 .37 .42 .01 0 Homo sapiens C__11383554_70 CYP2C19 CPCJ|CYP2C|CYP 2C|P450C2C|P450IIC19|RP11-400G3.4 CYP2C19*2B,c.276G>C|CYP2C19*2B,g.12460G>C G/C D92E MIM:124020|PharmGKB:PA124 rs17878459 hCV11383554 Mis-sense Mutation cytochrome P450, family 2, subfamily C, polypeptide 19 NM_000769 AGGAAGCCCTGATTGATCTTGGAGA[G/C]GAGTTTTCTGGAAGAGGCCATTTCC 96524912 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 .02 .01 0 0 Homo sapiens C__11390508_20 GSTP1 PI|DFN7|GST3|FAEES3 A/G MIM:134660|PharmGKB:PA29028 hCV11390508 Donor Splice Site glutathione S-transferase pi NM_000852 CTGCGTCACCTGGGCCGCACCCTTG[A/G]TGAGTCTTGAACCTCCAAGTCCAGG 67108820 NCBI Build 36.2 Human 11q1,11q13,11q13.2a,11q13.2,11q 11 0 0 0 0 Homo sapiens C__11407083_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/G MIM:600409 rs3777744 hCV11407083 Intron peroxisome proliferator-activated receptor delta NM_006238 GGTGGGCAGCACGTGCCGCGGGGGC[A/G]GGAAGGGGAGAGCTTCCGGGAAGGG 35464121 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 .09 .31 .31 .42 Homo sapiens C__11425332_30 CYP39A1 C/T H103R MIM:605994 rs2277119 hCV11425332 Mis-sense Mutation cytochrome P450, family 39, subfamily A, polypeptide 1 NM_016593 TATCTGAAAATATTCTTTACCTGTA[C/T]GATAAACGATATTTTGCACTGCTAG 46717864 NCBI Build 36.2 Human 6p12.3,6p12,6p1,6p12.3e,6p 6 .27 .19 .19 .2 Homo sapiens C__11436680_20 SLC7A7 LPI|LAT3|Y+LAT1|y+LAT-1 C/T L373L MIM:603593|PharmGKB:PA35925 rs1805062 hCV11436680 Silent Mutation solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 NM_003982 TGAGCTGGAAGATGTCTTCCACGCA[C/T]AAGTAGATCAATGCCATGATACCCT 22313529 NCBI Build 36.2 Human 14q11,14q1,14q11.2,14q11.2e,14q 14 0 0 0 0 Homo sapiens C__11445714_30 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | MIM:610613 rs5299 hCV11445714 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 AAGGGACAAAACCACAGCACCCTTG[C/T]ATGGCCACACGAGGAGCCTGGAGCC 143952473 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 .47 .4 .15 .12 Homo sapiens C__11445715_30 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/C | MIM:610613 rs5298 hCV11445715 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 AGGTGGGGCTGGGGACAAGGTCAGC[A/C]AGATCTTCCCCAGCTGTGCCCTGGC 143952583 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__11446332_20 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo C/T MIM:124080|PharmGKB:PA134 rs4537 hCV11446332 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 GATGCCTGTGTAGTGTTGAGGGCGG[C/T]TGAAGGCCAGTTCCTGGTAGATTTT 143992794 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 .01 0 0 Homo sapiens C__11446333_50 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo C/T MIM:124080|PharmGKB:PA134 rs4536 hCV11446333 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 ACAGTTCCGCCTTCAACAGGAGCTC[C/T]GCCACGATGCCTGTGTAGTGTTGAG 143992763 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 .04 .43 .47 Homo sapiens C__11446338_50 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo C/T MIM:124080|PharmGKB:PA134 rs4543 hCV11446338 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 CCTTGATGGCTTCTAGTGACAGTTC[C/T]GCCTTCAACAGGAGCTCCGCCACGA 143992745 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 .06 .14 0 0 Homo sapiens C__11446366_10 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/T MIM:124080|PharmGKB:PA134 rs5315 hCV11446366 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 ACCCAGCGAGTAGAGGAAAACCTGT[A/T]CCAATGTCTGCGGACGGTGCAGAGC 143991138 NCBI Build 36.2 Human 8q,8q24.3f,8q24.3,8q24,8q2 8 0 0 0 0 Homo sapiens C__11446378_10 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/C MIM:124080|PharmGKB:PA134 rs5317 hCV11446378 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 GGGGACGTGCCAGGCCTCAATATGA[A/C]GCTGTAGACCATCTTTATGTCCTCT 143990451 NCBI Build 36.2 Human 8q,8q24.3f,8q24.3,8q24,8q2 8 0 0 0 0 Homo sapiens C__11446728_40 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T Y10C|C10Y MIM:610613 rs6405 hCV11446728 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 CAGGGACAGCCAGGGCACTGCCATG[C/T]ACACCTCTGCCTTTGCCCTGAGTGC 143958203 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__11446733_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G D82D|D82D MIM:610613 rs5283 hCV11446733 Silent Mutation|Silent Mutation cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 CACACACCATGCCTGCTCCTCCCAA[A/G]TCGTACCTGTGGGGCCAAGCACGAG 143957599 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 .5 .14 .31 .33 Homo sapiens C__11449850_20 GSTM2 GST4|GSTM|GTHMUS|GSTM2-2|MGC117303 A/T E119D MIM:138380|PharmGKB:PA29023 hCV11449850 Mis-sense Mutation glutathione S-transferase M2 (muscle) NM_000848 TGGCCAAACTCTGCTATGACCCAGA[A/T]TTTGTAAGTCCCCCCACCCCACTCC 110013713 NCBI Build 36.2 Human 1p,1p13.3b,1p13.3,1p1,1p13 1 0 0 0 0 Homo sapiens C__25621236_20 SLC22A2 OCT2|MGC32628 C/T I165M MIM:602608|PharmGKB:PA331 rs8177507 hCV25621236 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 2 NM_003058 ACCTGTCTGCTATGTAGCCGATACT[C/T]ATAGAGCCAATAAAGAATCCTACAT 160597659 NCBI Build 36.2 Human 6q2,6q25,6q25.3,6q25.3f,6q 6 0 .01 0 0 Homo sapiens C__25621246_20 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 G/T V330L MIM:601131 hCV25621246 Mis-sense Mutation cytochrome P450, family 2, subfamily C, polypeptide 18 NM_000772 TAAAGTCCAGGAAGAGATTGAATGT[G/T]TAGTTGGCAGAAACCGGAGCCCCTG 96474119 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 0 .01 0 0 Homo sapiens C__25621238_20 SLC22A2 OCT2|MGC32628 C/T H176R MIM:602608|PharmGKB:PA331 hCV25621238 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 2 NM_003058 GACTGTAGTTAGGAGGCAGAGCTTA[C/T]GGCCAAACCTGCAGGAAGAAAAACA 160591716 NCBI Build 36.2 Human 6q2,6q25,6q25.3,6q25.3f,6q 6 .01 0 0 0 Homo sapiens C__25621248_30 SLC22A2 OCT2|MGC32628 C/G A297G MIM:602608|PharmGKB:PA331 rs8177513 hCV25621248 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 2 NM_003058 GTGCTTAATGATTCTCATGGCTTCA[C/G]CATTCTTATTCTGGGAGATCAGCCA 160588273 NCBI Build 36.2 Human 6q2,6q25,6q25.3,6q25.3f,6q 6 0 0 0 0 Homo sapiens C__25621250_20 SLC22A2 OCT2|MGC32628 A/G G370G MIM:602608|PharmGKB:PA331 hCV25621250 Silent Mutation solute carrier family 22 (organic cation transporter), member 2 NM_003058 CCAGGTAGATATTGTCACCTGCAAG[A/G]CCCATGTGCATGATGAGGCCCTGGT 160584763 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 0 .01 0 0 Homo sapiens C__25621260_10 SLC22A2 OCT2|MGC32628 G/T K432Q MIM:602608|PharmGKB:PA331 rs8177517 hCV25621260 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 2 NM_003058 CTTCCCAAGCATGAGATAATAATTT[G/T]TAGCCATTGTAGATCTAAGAGGGAA 160583410 NCBI Build 36.2 Human 6q2,6q25,6q25.3,6q25.3f,6q 6 0 .01 0 0 Homo sapiens C__25621360_30 UGT8 CGT A/G I368M MIM:601291 rs11098261 hCV25621360 Mis-sense Mutation UDP glycosyltransferase 8 (UDP-galactose ceramide galactosyltransferase) NM_003360 GTTTGAACAGTATTTTTGAAACTAT[A/G]TATCATGGTGTGCCTGTAGTGGGAA 115808751 NCBI Build 36.2 Human 4q,4q26b,4q26,4q2 4 0 .02 0 0 Homo sapiens C__25621370_20 UGT8 CGT G/T L191L MIM:601291 hCV25621370 Silent Mutation UDP glycosyltransferase 8 (UDP-galactose ceramide galactosyltransferase) NM_003360 TCCTCACAGACCGCATGAACTTGCT[G/T]CAAAGGATGAAAAATACCGGTGTTT 115764058 NCBI Build 36.2 Human 4q2,4q26,4q26b,4q 4 0 0 0 0 Homo sapiens C__25621489_10 SLC28A2 CNT2|HCNT2|SPNT1|HsT17153|MGC138252 C/T MIM:606208|PharmGKB:PA386 rs17215633 hCV25621489 solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 NM_004212 ACTGTGCTGGGAGCCTTCATAGCCT[C/T]TGGGGTAGGCATAGTCTGCTTGATC 43347066 NCBI Build 36.2 Human 15q21,15q2,15q21.1a,15q21.1,15q 15 0 .06 0 0 Homo sapiens C__25621522_20 SLC28A2 CNT2|HCNT2|SPNT1|HsT17153|MGC138252 C/G MIM:606208|PharmGKB:PA386 rs10519020 hCV25621522 solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 NM_004212 CTGAACTACACTGTGGCCGGCTCCA[C/G]TTTTGTCTTTGGGGATACACTGGTC 43344610 NCBI Build 36.2 Human 15q21,15q2,15q21.1a,15q21.1,15q 15 0 .21 0 0 Homo sapiens C__25622643_10 SLC19A1 CHMD|FOLT|IFC1|REFC|RFC1 G/T I414I MIM:600424|PharmGKB:PA327 hCV25622643 Silent Mutation solute carrier family 19 (folate transporter), member 1 NM_194255 CCCGCACGTCCGAGACAATGAAAGT[G/T]ATGATGGTCTTGACGATGGTGGCAA 45770210 NCBI Build 36.2 Human 21q2,21q22,21q22.3,21q22.3e,21q 21 0 .03 0 .02 Homo sapiens C__25622646_10 SLC19A1 CHMD|FOLT|IFC1|REFC|RFC1 C/T MIM:600424|PharmGKB:PA327 hCV25622646 Intron solute carrier family 19 (folate transporter), member 1 NM_194255 GACCCTAGGGGGATGGCTTTCCTGC[C/T]GTAGCGGTGTTGGAAGGACCCACTC 45785924 NCBI Build 36.2 Human 21q2,21q22,21q22.3,21q22.3e,21q 21 0 .08 0 0 Homo sapiens C__25623457_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T L314L MIM:609506 rs8176345 hCV25623457 Silent Mutation cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 TCACCGTGTCCACTCCCGCCAATAG[C/T]AACTCTGTCACATTTCCCAGGATGG 56444825 NCBI Build 36.2 Human 12q1,12q14.1a,12q14,12q14.1,12q 12 .03 0 0 0 Homo sapiens C__25623458_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T V230V MIM:609506 hCV25623458 Silent Mutation cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 GCATCGCCATGGTCAACAGCGTGGA[C/T]ACAAACACCGAGCCCACAGCGCGGA 56445161 NCBI Build 36.2 Human 12q1,12q14.1a,12q14,12q14.1,12q 12 0 0 0 0 Homo sapiens C__25626413_20 CYP26C1 FLJ45301 A/G Q245R MIM:608428 rs11187265 hCV25626413 Mis-sense Mutation cytochrome P450, family 26, subfamily C, polypeptide 1 NM_183374 ATCCGGGCAAGGGACCAGCTGCATC[A/G]GCACCTGGAGGGGGCCATTTCTGAG 94814156 NCBI Build 36.2 Human 10q,10q23.33,10q23.33a,10q23.3,10q23,10q2 10 .13 .13 .01 .01 Homo sapiens C__25628221_20 ADH7 ADH-4 A/G MIM:600086 rs17537595 hCV25628221 UTR 5 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide NM_000673 TGATGCTCAGTTCACTCTGTTGTAT[A/G]TAACAGCAGCTTGTGCCTTCACATA 100575489 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 .14 .03 0 .19 Homo sapiens C__25628227_10 ADH7 ADH-4 C/T I361V MIM:600086 hCV25628227 Mis-sense Mutation alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide NM_000673 TCACTGATTTTTTTAAATGGTAAAA[C/T]ATGAGTTATCAACTGGTCCAGGTCA 100555713 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 0 0 0 0 Homo sapiens C__25628233_30 ADH7 ADH-4 C/T K238E MIM:600086 hCV25628233 Mis-sense Mutation alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide NM_000673 GCCATGGCCTTCTCAAATTTGTCTT[C/T]GTTGAGGTCAATCCCAATGATCCTA 100560862 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 0 .04 0 0 Homo sapiens C__25628704_10 PON1 ESA|PON C/T I109V MIM:168820 hCV25628704 Mis-sense Mutation paraoxonase 1 NM_000446 ATCCCATGAGGGTTAAATGAAGATA[C/T]ATCAAATTTACTTCCAGTGATCCCC 94782615 NCBI Build 36.2 Human 7q2,7q21,7q21.3,7q21.3b,7q 7 0 0 0 0 Homo sapiens C__25629917_10 CYP4F12 F22329_1 C/T MIM:611485 hCV25629917 cytochrome P450, family 4, subfamily F, polypeptide 12 NM_023944 GGCGGAGATGAAAGTGGTCCTGGCG[C/T]TGATGCTGCTGCACTTCCGGTTCCT 15668770 NCBI Build 36.2 Human 19p13,19p1,19p13.1,19p13.12,19p13.12a,19p 19 0 0 0 0 Homo sapiens C__25629925_10 CYP4F12 F22329_1 A/G MIM:611485 hCV25629925 cytochrome P450, family 4, subfamily F, polypeptide 12 NM_023944 ACAGTCCCCACTCCCGCCTGCAGGA[A/G]CTGCATCGGGCAGGCGTTCGCCATG 15668720 NCBI Build 36.2 Human 19p13,19p1,19p13.1,19p13.12,19p13.12a,19p 19 0 .02 0 0 Homo sapiens C__25629935_10 CYP4F12 F22329_1 A/G MIM:611485 hCV25629935 cytochrome P450, family 4, subfamily F, polypeptide 12 NM_023944 CATCTCCCGATGCTGCACCCAGGAC[A/G]TTGTTCTCCCAGATGGCCGAGTCAT 15667846 NCBI Build 36.2 Human 19p13,19p1,19p13.1,19p13.12,19p13.12a,19p 19 0 .02 0 0 Homo sapiens C__25630686_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAQB-69D7.3 C/T I578V MIM:170260|PharmGKB:PA35021 rs17886758 hCV25630686 Mis-sense Mutation transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) NM_000593 GTAGGTTGTACCTGTAGCACTAAGA[C/T]ATCTGGGCGGTTTGGGTAGGCAAAG 32924421 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32a,6p 6 .01 .04 0 0 Homo sapiens C__25632538_20 CYP1B1 CP1B|GLC3A A/G P12L MIM:601771|PharmGKB:PA27094 hCV25632538 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 CTGCTGGATGGACAGCGGGTTTAGC[A/G]GCCAAGGGTCGTTCGGGCTGAGGCT 38156001 NCBI Build 36.2 Human 2p,2p22.2a,2p22.2,2p22,2p2 2 0 0 0 .01 Homo sapiens C__25632539_20 CYP1B1 CP1B|GLC3A CYP1B1,c.241T>A A/T N81Y MIM:601771|PharmGKB:PA27094 rs9282671 hCV25632539 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 AGGCGGATCTGGAAAACGTCGCCGT[A/T]GCGCCGCGCCAGGCGAGCGAACGAG 38155795 NCBI Build 36.2 Human 2p2,2p22,2p22.2,2p22.2a,2p 2 .01 0 0 0 Homo sapiens C__25632546_30 CYP1B1 CP1B|GLC3A C/T K229E MIM:601771|PharmGKB:PA27094 hCV25632546 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 GCGCCCACCGTGCGCCCGAACTCTT[C/T]GTTGTGGCTGAGCAGCTCACGGAAC 38155351 NCBI Build 36.2 Human 2p2,2p22,2p22.2,2p22.2a,2p 2 .02 0 0 0 Homo sapiens C__25632547_20 CYP1B1 CP1B|GLC3A A/T D218V MIM:601771|PharmGKB:PA27094 hCV25632547 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 GCTGAGCAGCTCACGGAACTCGGGG[A/T]CGTCGTGGCTGTAGCGGCAGCCGAA 38155383 NCBI Build 36.2 Human 2p,2p22.2a,2p22.2,2p22,2p2 2 0 0 0 0 Homo sapiens C__25632548_10 CYP1B1 CP1B|GLC3A A/T S464S MIM:601771|PharmGKB:PA27094 rs4986889 hCV25632548 Silent Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 CGCCAATGCACCGCCTTTTGCCCAC[A/T]GAAAAAATCATCACTCTGCTGGTCA 38151609 NCBI Build 36.2 Human 2p2,2p22,2p22.2,2p22.2a,2p 2 0 .01 0 0 Homo sapiens C__25634254_20 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T E395E MIM:603201|PharmGKB:PA374 hCV25634254 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 GGCTTATACATACCCTGTCTATTGT[C/T]TCAAAAATGCTGGTGGCTGCTGCAC 169544634 NCBI Build 36.2 Human 2q31.1a,2q3,2q31,2q31.1,2q 2 0 .03 0 0 Homo sapiens C__25634265_20 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T M677V MIM:603201|PharmGKB:PA374 rs11568364 hCV25634265 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 CCTCTGCTAAAGGTCCTCGCAAGCA[C/T]GTCATCTTCAGTTGCATCTACTCAA 169533229 NCBI Build 36.2 Human 2q31.1a,2q3,2q31,2q31.1,2q 2 .01 .14 0 0 Homo sapiens C__25634270_30 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T MIM:603201|PharmGKB:PA374 rs4148772 hCV25634270 Intron ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 TTGCAATTATTATCTCTTCTTTCTT[C/T]TTTAATCAAAGTAGCCAAACGAAAG 169582958 NCBI Build 36.2 Human 2q31.1a,2q3,2q31,2q31.1,2q 2 .02 .03 .06 .05 Homo sapiens C__25634284_20 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 A/G S56L MIM:603201|PharmGKB:PA374 rs11568361 hCV25634284 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 CACAAACATCAGCCAAATGTCAGTT[A/G]ATGAAGAAAACCGAAACTTGAAAAA 169578250 NCBI Build 36.2 Human 2q31.1a,2q3,2q31,2q31.1,2q 2 0 0 0 0 Homo sapiens C__25634285_20 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 A/G D58D MIM:603201|PharmGKB:PA374 rs11568362 hCV25634285 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 AACTTCCCACAAACATCAGCCAAAT[A/G]TCAGTTGATGAAGAAAACCGAAACT 169578243 NCBI Build 36.2 Human 2q31.1a,2q3,2q31,2q31.1,2q 2 0 .01 0 0 Homo sapiens C__25634286_30 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 A/G F90F MIM:603201|PharmGKB:PA374 rs4148777 hCV25634286 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 CTTGTAACTCAACGTCGTAGTCAAT[A/G]AAAACATCTGTCATTGTGCCAAAAA 169578147 NCBI Build 36.2 Human 2q31.1a,2q3,2q31,2q31.1,2q 2 .01 .03 .06 .06 Homo sapiens C__25634302_20 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 A/G I134I MIM:603201|PharmGKB:PA374 rs11568377 hCV25634302 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 TGGCAAATTTGATCATTTCGCTCTC[A/G]ATGTTCAGCAACCTTCAAAAGAGGG 169561466 NCBI Build 36.2 Human 2q31.1a,2q3,2q31,2q31.1,2q 2 0 .2 0 0 Homo sapiens C__25634303_20 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/G V195V MIM:603201|PharmGKB:PA374 rs11568365 hCV25634303 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 CAGAGAATCTTGTATTCAGCTCCCC[C/G]ACTGAATTGCAGTCAAACCACCCTA 169560131 NCBI Build 36.2 Human 2q31.1a,2q3,2q31,2q31.1,2q 2 0 0 0 0 Homo sapiens C__25634304_20 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T I206V MIM:603201|PharmGKB:PA374 rs11568357 hCV25634304 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 GCTATGGCATCATTGATTTTATTAA[C/T]ATCACTAGAAACCAGAAAGATTTTG 169558634 NCBI Build 36.2 Human 2q31.1a,2q3,2q31,2q31.1,2q 2 0 .03 0 0 Homo sapiens C__25634362_20 ABCB10 M-ABC2|MTABC2|EST20237 A/G S301S MIM:605454 rs3738187 hCV25634362 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 10 NM_012089 CACATACCATCATACTGATGCCTAC[A/G]GAAGCCTGGGCCCCGGCCCTGAGCC 227749887 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.13,1q42.13e,1q 1 .23 .44 .06 .2 Homo sapiens C__25634369_20 ABCB10 M-ABC2|MTABC2|EST20237 G/T K478N MIM:605454 hCV25634369 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 10 NM_012089 CAAAGAAACAATTTTCAGACCCACC[G/T]TTAAAAGGCAGCTTGGGCTCTCTCT 227734007 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.13,1q42.13e,1q 1 0 .03 0 0 Homo sapiens C__25634377_20 ABCB10 M-ABC2|MTABC2|EST20237 C/T N545D MIM:605454 rs35698797 hCV25634377 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 10 NM_012089 GTGAACTGCTTACCAGAAGCAGGGT[C/T]GTACAACCTCAGCAGGAGTGAAAGC 227732581 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.13,1q42.13e,1q 1 0 0 0 0 Homo sapiens C__25634578_10 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 C/T T18M|T18M MIM:274180|PharmGKB:PA349 hCV25634578 Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 TTGGAAGTGAATGGCCCCATGGTGA[C/T]GGTGGCCCTGTCAGTGGCTCTCTTG 139175708 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 0 0 0 0 Homo sapiens C__25634585_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 CYP5A1*1B,c.360G>A A/G S120S|S120S MIM:274180|PharmGKB:PA349 hCV25634585 Silent Mutation|Silent Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 AGGCGTCGGGTTTGGAGTTCAAGTC[A/G]GTAGCCGACAGCGTTCTGTTTTTAC 139282482 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 .01 0 0 0 Homo sapiens C__25634896_30 CYP27A1 CTX|CP27|CYP27 C/T R164W MIM:606530 hCV25634896 Mis-sense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 CCAGCTGCGCCAGGCTCTGAACCAG[C/T]GGTTGCTGAAGCCAGCGGAAGCAGC 219385232 NCBI Build 36.2 Human 2q3,2q35,2q35e,2q 2 0 0 0 0 Homo sapiens C__25634897_20 CYP27A1 CTX|CP27|CYP27 C/T A169V MIM:606530 hCV25634897 Mis-sense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 CTGAACCAGCGGTTGCTGAAGCCAG[C/T]GGAAGCAGCGCTCTATACGGATGCT 219385248 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 .01 0 0 Homo sapiens C__25634901_20 CYP27A1 CTX|CP27|CYP27 A/G E294E MIM:606530 hCV25634901 Silent Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 TTGATGAGAAGCTCGAAGATATGGA[A/G]GCCCAACTGCAGGCAGCAGGGCCAG 219385928 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 .01 0 0 0 Homo sapiens C__26856819_20 PPARG NR1C3|PPARG1|PPARG2 C/T ||| MIM:601487|PharmGKB:PA281 rs1805151 hCV26856819 ||| peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 GATTGTCACGGAACACGTGCAGCTA[C/T]TGCAGGTGATCAAGAAGACGGAGAC 12450567 NCBI Build 36.2 Human 3p2,3p25,3p25.1d,3p25.1,3p 3 0 0 0 0 Homo sapiens C__26884762_30 EPHX1 MEH|EPHX|EPOX A/T Q387H MIM:132810|PharmGKB:PA27829 rs2137841 hCV26884762 Mis-sense Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 GACAGGGCTGGATGACCCAGAAGCA[A/T]GAGCGGTGAGCCTGGCTGAGCCGAG 224098942 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.12,1q42.12c,1q 1 0 0 0 0 Homo sapiens C__26907818_40 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 C/G G1249G MIM:171050|PharmGKB:PA267 rs2235051 hCV26907818 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 GATGCGTGCCATGCTCCTTGACTCT[C/G]CCATTCTGAAACACCACTATTAAGT 86971591 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 0 0 Homo sapiens C__27015223_10 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAQB-69D7.3 C/G L170V MIM:170260|PharmGKB:PA35021 rs2228108 hCV27015223 Mis-sense Mutation transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) NM_000593 GAGATCAGCTCTCGGAACAAGGCAA[C/G]TCCCGGCAGGGCCAAGCCCAGTGCC 32929064 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32a,6p 6 0 0 0 0 Homo sapiens C__27028164_10 UGT2B15 UGT2B8 UGT2B15*2,g.253G>T|UGT2B15*5,g.253G>T A/C MIM:600069|PharmGKB:PA37188 rs1902023 hCV27028164 UDP glucuronosyltransferase 2 family, polypeptide B15 NM_001076 ATTTTCAGAAGAGAATCTTCCAAAT[A/C]ATTTTTAGTTAAAGATGTAGGATAA 69570689 NCBI Build 36.2 Human 4q1,4q13,4q13.2,4q13.2c,4q 4 .47 .35 .43 .34 Homo sapiens C__27040059_60 SLC22A1 OCT1|HOCT1|oct1_cds C/G F41L|F41L MIM:602607|PharmGKB:PA329 rs2297373 hCV27040059 Mis-sense Mutation|Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 1 NM_003057|NM_153187 CGCCCATCTGTGTGGGCATCGTCTT[C/G]CTGGGTTTCACACCTGACCACCACT 160463080 NCBI Build 36.2 Human 6q2,6q25,6q25.3,6q25.3f,6q 6 0 0 0 0 Homo sapiens C__27042066_10 ALDH7A1 EPD|PDE|ATQ1 A/T MIM:107323 rs1049214 hCV27042066 UTR 5 aldehyde dehydrogenase 7 family, member A1 NM_001182 TGAAGGCGGCAGGCCTGCTCCAAGG[A/T]CCAGAGAGCTTGCTGGTCTTTGCAG 125958730 NCBI Build 36.2 Human 5q2,5q23,5q23.2,5q23.2e,5q 5 0 0 0 0 Homo sapiens C__27054292_30 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 A/G MIM:603201|PharmGKB:PA374 rs3770602 hCV27054292 Intron ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 TTGGCTTAGCTCTCCATTTAAAAAG[A/G]TTTCTTTCCACTGGTGTGCAAATAC 169589937 NCBI Build 36.2 Human 2q31.1a,2q3,2q31,2q31.1,2q 2 .29 .26 .17 .13 Homo sapiens C__27065556_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 A/G | MIM:603234 rs4341770 hCV27065556 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 CAGCAGGGAGGACTTCCCTGCCCCC[A/G]CTGGACCGACAACAGCCAGCAGACA 16184238 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 0 0 0 0 Homo sapiens C__27102414_10 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*2X3,g.4180G>C|CYP2D6*2X4,g.4180G>C|CYP2D6*2X5,g.4180G>C|CYP2D6*2XN,g.4180G>C|CYP2D6*30,g.4180G>C|CYP2D6*31,g.4180G>C|CYP2D6*32,g.4180G>C|CYP2D6*35,g.4180G>C|CYP2D6*35X2,g.4180G>C|CYP2D6*36 Dupl. or tandem,g.4180G>C|CYP2D6*36 Single,g.4180G>C|CYP2D6*36,g.4180G>C|CYP2D6*37,g.4180G>C|CYP2D6*39,g.4180G>C|CYP2D6*40,g.4180G>C|CYP2D6*41,g.4180G>C|CYP2D6*41A,g.4180G>C|CYP2D6*41B,g.4180G>C|CYP2D6*42,g.4180G>C|CYP2D6*45A,g.4180G>C|CYP2D6*45B,g.4180G>C|CYP2D6*46,g.4180G>C|CYP2D6*47,g.4180G>C|CYP2D6*49,g.4180G>C|CYP2D6*4A,g.4180G>C|CYP2D6*4B,g.4180G>C|CYP2D6*4C,g.4180G>C|CYP2D6*4D,g.4180G>C|CYP2D6*4E,g.4180G>C|CYP2D6*4F,g.4180G>C|CYP2D6*4G,g.4180G>C|CYP2D6*4H,g.4180G>C|CYP2D6*4K,g.4180G>C|CYP2D6*4L,g.4180G>C|CYP2D6*4N,g.4180G>C|CYP2D6*51,g.4180G>C|CYP2D6*52,g.4180G>C|CYP2D6*54,g.4180G>C|CYP2D6*55,g.4180G>C|CYP2D6*56A,g.4180G>C|CYP2D6*56B,g.4180G>C|CYP2D6*57,g.4180G>C|CYP2D6*58,g.4180G>C|CYP2D6*59,g.4180G>C|CYP2D6*6C,g.4180G>C|CYP2D6*8,g.4180G>C|CYP2D6*10A,g.4180G>C|CYP2D6*10B,g.4180G>C|CYP2D6*10D,g.4180G>C|CYP2D6*11,g.4180G>C|CYP2D6*12,g.4180G>C|CYP2D6*14A,g.4180G>C|CYP2D6*14B,g.4180G>C|CYP2D6*17,g.4180G>C|CYP2D6*19,g.4180G>C|CYP2D6*20,g.4180G>C|CYP2D6*21A,g.4180G>C|CYP2D6*21B,g.4180G>C|CYP2D6*28,g.4180G>C|CYP2D6*29,g.4180G>C|CYP2D6*2A,g.4180G>C|CYP2D6*2B,g.4180G>C|CYP2D6*2C,g.4180G>C|CYP2D6*2D,g.4180G>C|CYP2D6*2E,g.4180G>C|CYP2D6*2F,g.4180G>C|CYP2D6*2G,g.4180G>C|CYP2D6*2H,g.4180G>C|CYP2D6*2J,g.4180G>C|CYP2D6*2K,g.4180G>C|CYP2D6*2L,g.4180G>C|CYP2D6*2M,g.4180G>C|CYP2D6*2X13,g.4180G>C|CYP2D6*2X2,g.4180G>C C/G T486S|T435S MIM:124030|PharmGKB:PA128 rs1135840 hCV27102414 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 AGCACAAAGCTCATAGGGGGATGGG[C/G]TCACCAGGAAAGCAAAGACACCATG 40852557 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2b,22q 22 .46 .39 .41 .21 Homo sapiens C__27102422_10 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 A/G S311L|S260L MIM:124030|PharmGKB:PA128 rs1135830 hCV27102422 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 CAGGAGGCCCCAGGCCAGCGTGGTC[A/G]AGGTGGTCACCATCCCGGCAGAGAA 40853841 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2b,22q 22 0 0 0 .02 Homo sapiens C__27102425_10 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*11,g.2850C>T|CYP2D6*12,g.2850C>T|CYP2D6*14A,g.2850C>T|CYP2D6*14B,g.2850C>T|CYP2D6*17,g.2850C>T|CYP2D6*19,g.2850C>T|CYP2D6*20,g.2850C>T|CYP2D6*21A,g.2850C>T|CYP2D6*21B,g.2850C>T|CYP2D6*28,g.2850C>T|CYP2D6*29,g.2850C>T|CYP2D6*2A,g.2850C>T|CYP2D6*2B,g.2850C>T|CYP2D6*2C,g.2850C>T|CYP2D6*2D,g.2850C>T|CYP2D6*2E,g.2850C>T|CYP2D6*2F,g.2850C>T|CYP2D6*2G,g.2850C>T|CYP2D6*2H,g.2850C>T|CYP2D6*2J,g.2850C>T|CYP2D6*2K,g.2850C>T|CYP2D6*2L,g.2850C>T|CYP2D6*2M,g.2850C>T|CYP2D6*2X13,g.2850C>T|CYP2D6*2X2,g.2850C>T|CYP2D6*2X3,g.2850C>T|CYP2D6*2X4,g.2850C>T|CYP2D6*2X5,g.2850C>T|CYP2D6*2XN,g.2850C>T|CYP2D6*30,g.2850C>T|CYP2D6*31,g.2850C>T|CYP2D6*32,g.2850C>T|CYP2D6*34,g.2850C>T|CYP2D6*35,g.2850C>T|CYP2D6*35X2,g.2850C>T|CYP2D6*40,g.2850C>T|CYP2D6*41,g.2850C>T|CYP2D6*41A,g.2850C>T|CYP2D6*41B,g.2850C>T|CYP2D6*42,g.2850C>T|CYP2D6*45A,g.2850C>T|CYP2D6*45B,g.2850C>T|CYP2D6*46,g.2850C>T|CYP2D6*4K,g.2850C>T|CYP2D6*51,g.2850C>T|CYP2D6*55,g.2850C>T|CYP2D6*56A,g.2850C>T|CYP2D6*58,g.2850C>T|CYP2D6*59,g.2850C>T|CYP2D6*63,g.2850C>T|CYP2D6*8,g.2850C>T A/G R296C|R245C MIM:124030|PharmGKB:PA128 rs16947 hCV27102425 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 GAGAACAGGTCAGCCACCACTATGC[A/G]CAGGTTCTCATCATTGAAGCTGCTC 40853887 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2b,22q 22 .34 .44 .12 .12 Homo sapiens C__27102431_B0 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*4A,g.1846G>A|CYP2D6*4B,g.1846G>A|CYP2D6*4C,g.1846G>A|CYP2D6*4D,g.1846G>A|CYP2D6*4E,g.1846G>A|CYP2D6*4F,g.1846G>A|CYP2D6*4G,g.1846G>A|CYP2D6*4H,g.1846G>A|CYP2D6*4J,g.1846G>A|CYP2D6*4K,g.1846G>A|CYP2D6*4L,g.1846G>A|CYP2D6*4M,g.1846G>A|CYP2D6*4N,g.1846G>A C/T | MIM:124030|PharmGKB:PA128 rs3892097 hCV27102431 Acceptor Splice Site|Acceptor Splice Site cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 AGACCGTTGGGGCGAAAGGGGCGTC[C/T]TGGGGGTGGGAGATGCGGGTAAGGG 40854891 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2b,22q 22 .2 .08 0 0 Homo sapiens C__27102448_30 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*21A,g.-740C>T|CYP2D6*21B,g.-740C>T|CYP2D6*2A,g.-740C>T|CYP2D6*2L,g.-740C>T|CYP2D6*2M,g.-740C>T|CYP2D6*41,g.-740C>T|CYP2D6*41A,g.-740C>T|CYP2D6*41B,g.-740C>T|CYP2D6*45B,g.-740C>T|CYP2D6*46,g.-740C>T|CYP2D6*51,g.-740C>T|CYP2D6*56A,g.-740C>T|CYP2D6*58,g.-740C>T G/A | MIM:124030|PharmGKB:PA128 rs28624811 hCV27102448 | cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 TACACAGACTCACACTGACACTTAG[G/A]GCACACATTCTCTCTCACACACACC 40857477 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2b,22q 22 .33 .41 .11 .12 Homo sapiens C__27104783_30 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 CYP2C9*18,c.1425A>T|CYP2C9*18,g.50298A>T A/T G475G MIM:601130|PharmGKB:PA126 rs1057911 hCV27104783 Silent Mutation cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 TTGACACCACTCCAGTTGTCAATGG[A/T]TTTGCCTCTGTGCCGCCCTTCTACC 96738727 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 .1 .02 .06 .01 Homo sapiens C__27104786_50 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 C/T A441A MIM:601130|PharmGKB:PA126 rs2017319 hCV27104786 Silent Mutation cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 GGATTTGTGTGGGAGAAGCCCTGGC[C/T]GGCATGGAGCTGTTTTTATTCCTGA 96738625 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 0 .1 0 0 Homo sapiens C__27104892_10 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 CYP2C9*18,c.1075A>C|CYP2C9*18,g.42614A>C|CYP2C9*3A,c.1075A>C|CYP2C9*3A,g.42614A>C|CYP2C9*3B,c.1075A>C|CYP2C9*3B,g.42614A>C C/A I359L MIM:601130|PharmGKB:PA126 rs1057910 hCV27104892 Mis-sense Mutation cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 TGTGGTGCACGAGGTCCAGAGATAC[C/A]TTGACCTTCTCCCCACCAGCCTGCC 96731043 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 .1 .02 .06 .01 Homo sapiens C__27109546_10 ALDH1A1 ALDC|ALDH1|PUMB1|ALDH11|RALDH1|ALDH-E1|MGC2318 G/T D446A MIM:100640 rs1803054 hCV27109546 Mis-sense Mutation aldehyde dehydrogenase 1 family, member A1 NM_000689 TTACCACACTGTTCCTGCCTGCAGA[G/T]CAGAGGAGATTGTTATGGCTTTATC 74714359 NCBI Build 36.2 Human 9q2,9q21.1,9q21,9q21.13,9q21.13a,9q 9 0 0 0 0 Homo sapiens C__27155323_10 UGT1A8 UDPGT|UGT1H C/T R208W MIM:606433|PharmGKB:PA37183 rs1126802 hCV27155323 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A8 NM_019076 TGCCATGACTTTCAAGGAGAGAGTA[C/T]GGAACCACATCATGCACTTGGAGGA 234191714 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__27155324_20 UGT1A8 UDPGT|UGT1H A/G |M212V MIM:606433|PharmGKB:PA37183 rs1126803 hCV27155324 |Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A8 NM_007120|NM_019076 CAAGGAGAGAGTACGGAACCACATC[A/G]TGCACTTGGAGGAACATTTATTTTG 234191726 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__26236694_20 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo C/T MIM:124080|PharmGKB:PA134 rs5281 hCV26236694 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 CTGGATGCTGGGGCATGGCTTCAAA[C/T]GGCAGCACCGTCCTAGGGGCCCGAG 143996148 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 .01 .01 Homo sapiens C__26251036_20 MAOA RP1-201D17__B.2 G/T L381L MIM:309850 rs1803987 hCV26251036 Silent Mutation monoamine oxidase A NM_000240 TCTGTGAGCTCTATGCCAAAGTGCT[G/T]GGATCCCAAGAAGCTTTACATGTAA 43484908 NCBI Build 36.2 Human Xp11,Xp1,Xp11.3,Xp11.3c,Xp X 0 0 0 0 Homo sapiens C__26261671_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G MIM:600509|PharmGKB:PA24395 hCV26261671 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TAGTAGACCACGGAGGTGACAGCAG[C/G]CATGAACGCCATCCCGGCTGGCATG 17448290 NCBI Build 36.2 Human 11p1,11p15,11p15.1,11p15.1d,11p 11 0 0 0 0 Homo sapiens C__26261678_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 hCV26261678 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 GCGATGGGCAGCTTCCCGATGGCTC[A/G]CAAGTCGATGGGCTTCTTGTGGGCA 17439786 NCBI Build 36.2 Human 11p1,11p15,11p15.1,11p15.1d,11p 11 0 0 0 0 Homo sapiens C__26261683_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 hCV26261683 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TTGGTGTCGATGGCAACCAGATTAC[A/G]GATCTGTCCAGCAGTCATTTCTCCC 17426719 NCBI Build 36.2 Human 11p1,11p15,11p15.1,11p15.1d,11p 11 0 0 0 0 Homo sapiens C__26261686_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 hCV26261686 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 GTTCTCCCAGGCGTACAGCTTCAGC[A/G]GCTTGATGCCGCGGAGCATCTCGTT 17420950 NCBI Build 36.2 Human 11p1,11p15,11p15.1,11p15.1d,11p 11 0 0 0 0 Homo sapiens C__26261692_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 hCV26261692 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TCATGGGGGGCACACTGCTCCTCAC[A/G]GATCTCTGCACTGGACAGGAACTCG 17406753 NCBI Build 36.2 Human 11p1,11p15,11p15.1,11p15.1d,11p 11 0 .01 0 0 Homo sapiens C__26261699_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 hCV26261699 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 GCCATCCCTCGAGGACATGGCACGA[A/G]ATAGGCCCTGGGGTGGCTCTGTGGC 17385530 NCBI Build 36.2 Human 11p1,11p15,11p15.1,11p15.1d,11p 11 0 0 0 0 Homo sapiens C__26261705_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T MIM:600509|PharmGKB:PA24395 hCV26261705 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 CTGGTCTTCCTCACGAAGGCCCGGG[C/T]CAGGCAGAACAGCTGCCTCTGTCCC 17372460 NCBI Build 36.2 Human 11p1,11p15,11p15.1,11p15.1d,11p 11 0 0 0 0 Homo sapiens C__26334975_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 A/G | MIM:170998|PharmGKB:PA280 rs881740 hCV26334975 Intron|Intron peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 GTACAGTAGGAGGAGCAAGCCCAGG[A/G]CAGGTGAGTGGGTCAAGGGTGCCAG 44946052 NCBI Build 36.2 Human 22q1,22q13,22q13.31,22q13.3,22q13.31d,22q 22 .12 .39 .09 .08 Homo sapiens C__26457150_10 ADH5 FDH|ADHX|ADH-3 C/G V332V MIM:103710 hCV26457150 Silent Mutation alcohol dehydrogenase 5 (class III), chi polypeptide NM_000671 TTATCTTTTTGGACATATATTCAGA[C/G]ACCAACTTTGGGACACTTTCTACAC 100212851 NCBI Build 36.2 Human 4q2,4q23,4q23a,4q 4 0 0 0 0 Homo sapiens C__26457153_40 ADH5 FDH|ADHX|ADH-3 A/T L246F MIM:103710 rs1050637 hCV26457153 Mis-sense Mutation alcohol dehydrogenase 5 (class III), chi polypeptide NM_000671 TGAGCACTTCCTGGATGGGTTTACT[A/T]AAATCCTGAGGGTTAATACATTCAG 100216553 NCBI Build 36.2 Human 4q2,4q23,4q23a,4q 4 0 0 0 0 Homo sapiens C__26457154_10 ADH5 FDH|ADHX|ADH-3 A/C D167Y MIM:103710 rs1050636 hCV26457154 Mis-sense Mutation alcohol dehydrogenase 5 (class III), chi polypeptide NM_000671 CCACAACCTAGAAGGCAGACTTTAT[A/C]CAAAGGTGCTAAAGGATCTATTTTA 100216943 NCBI Build 36.2 Human 4q,4q23a,4q23,4q2 4 0 0 0 0 Homo sapiens C__26457248_10 ADH4 ADH-2 A/T MIM:103740 rs1800760 hCV26457248 alcohol dehydrogenase 4 (class II), pi polypeptide NM_000670 CCCAGTGAGCTCCAAGATTTTTTAA[A/T]TTCTTTTTTCTTTTATTGAAAAATA 100284649 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 .38 .1 .05 .11 Homo sapiens C__26457373_10 ADH1B ADH2 G/T K57N MIM:103720|PharmGKB:PA24571 rs1041969 hCV26457373 Mis-sense Mutation alcohol dehydrogenase IB (class I), beta polypeptide NM_000668 AAATCACAGGAAGGGGGGTCACCAG[G/T]TTGCCACTAACCACGTGGTCATCTG 100458314 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 0 0 0 0 Homo sapiens C__26457410_10 ADH1C ADH3 C/T MIM:103730|PharmGKB:PA24572 rs698 hCV26457410 alcohol dehydrogenase 1C (class I), gamma polypeptide NM_000669 TCATTTATTTTTTCAAAAGGTAAAA[C/T]ATTTGTTATTAATGCATCCAGTGAA 100479812 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 .33 .18 .02 .09 Homo sapiens C__26457411_10 ADH1C ADH3 C/G P330P MIM:103730|PharmGKB:PA24572 rs1042756 hCV26457411 Silent Mutation alcohol dehydrogenase 1C (class I), gamma polypeptide NM_000669 TAGCCATAAAGTCAGCCACAAGTTT[C/G]GGGACAGATTCTTTACTCTTAAAGC 100479870 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 0 0 0 0 Homo sapiens C__25634902_20 CYP27A1 CTX|CP27|CYP27 A/G Q296Q MIM:606530 hCV25634902 Silent Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 AGAAGCTCGAAGATATGGAGGCCCA[A/G]CTGCAGGCAGCAGGGCCAGATGGCA 219385934 NCBI Build 36.2 Human 2q3,2q35,2q35e,2q 2 0 0 0 0 Homo sapiens C__25634903_20 CYP27A1 CTX|CP27|CYP27 C/T P384L MIM:606530 hCV25634903 Mis-sense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 CAGCACAAGGACTTTGCCCACATGC[C/T]GTTGCTCAAAGCTGTGCTTAAGGAG 219387121 NCBI Build 36.2 Human 2q3,2q35,2q35e,2q 2 .06 0 0 0 Homo sapiens C__25634941_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 C/T Q343R MIM:605452 hCV25634941 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 GGAGAAGATGAGCAGCTCCACCCGC[C/T]GAGACGTGAACTGCTGCACCCGGAT 219789089 NCBI Build 36.2 Human 2q3,2q35,2q35f,2q 2 0 .17 0 0 Homo sapiens C__25634942_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 A/G R276W MIM:605452 hCV25634942 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 ATAGGCACCAACACATTGAGTGCCC[A/G]TTCCAAACCCATGAGCCCCAGGCAG 219789660 NCBI Build 36.2 Human 2q,2q35f,2q35,2q3 2 .01 0 0 0 Homo sapiens C__25634955_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 A/G T754M MIM:605452 hCV25634955 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 CTCATTAGATGTATCCAGCGCTGAC[A/G]TTGCCTATAGAGAGGGTCCAGGTAA 219783437 NCBI Build 36.2 Human 2q3,2q35,2q35f,2q 2 0 0 0 0 Homo sapiens C__25634959_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 A/G V431V MIM:605452 hCV25634959 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 GACGAAACTTGGTTCTCCACTCAGT[A/G]ACCACAATGGTCAGGGCTGGAGAGT 219787448 NCBI Build 36.2 Human 2q3,2q35,2q35f,2q 2 0 0 0 0 Homo sapiens C__25634960_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 A/G A454V MIM:605452 hCV25634960 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 CGTCTCGAAGTTTAGCAGAGAGTCC[A/G]CTGCTCGTGCCCGGGTAGCGTTCTC 219787380 NCBI Build 36.2 Human 2q3,2q35,2q35f,2q 2 0 0 0 0 Homo sapiens C__25636283_20 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 C/T A590A| MIM:602783 hCV25636283 Silent Mutation| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 GCTGGATGCTGGAGCACACGGAGGC[C/T]GTGATGAAGGTGGGTCTTGGCAGGT 88144509 NCBI Build 36.2 Human 16q2,16q24,16q24.3,16q24.3b,16q 16 0 .06 0 0 Homo sapiens C__25636486_10 ADH6 ADH-5 C/T | MIM:103735 hCV25636486 | alcohol dehydrogenase 6 (class V) NM_000672|NM_001102470 TGGCCACTGATTTTGAGTTGAACAC[C/T]GGCAGGCAACACCCCAACAACCACA 100347695 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 0 .01 0 0 Homo sapiens C__25636488_20 ADH6 ADH-5 A/C | MIM:103735 hCV25636488 | alcohol dehydrogenase 6 (class V) NM_000672|NM_001102470 CCCAGTGGAAAAGCCACAGCTAATT[A/C]GGCATACTTTCTCTAGAGGAGCGAC 100350314 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 .01 0 0 0 Homo sapiens C__25636499_10 ADH6 ADH-5 C/T | MIM:103735 rs28720153 hCV25636499 | alcohol dehydrogenase 6 (class V) NM_000672|NM_001102470 TTAGTAAAAACTTACTTGAATTGTA[C/T]ACAAAAATTGCCCTCAGAATTCAGG 100350605 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 0 .08 0 0 Homo sapiens C__25636674_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 hCV25636674 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 CAAGTACCTGTATTGCTCCTCTCAA[A/G]TTAATTCCAGTTTCAATGGCCACAT 17431260 NCBI Build 36.2 Human 11p1,11p15,11p15.1,11p15.1d,11p 11 0 .09 0 0 Homo sapiens C__25636675_30 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T MIM:600509|PharmGKB:PA24395 hCV25636675 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 AAGGAACAGAAGCACAGCTAAGACG[C/T]AGGCATTGGCAAGGAACTCTTGGGA 17431351 NCBI Build 36.2 Human 11p1,11p15,11p15.1,11p15.1d,11p 11 .01 0 0 0 Homo sapiens C__25636736_20 SULT2B1 HSST2 C/G R287G|R302G MIM:604125|PharmGKB:PA36249 hCV25636736 Mis-sense Mutation|Mis-sense Mutation sulfotransferase family, cytosolic, 2B, member 1 NM_004605|NM_177973 CGATCGTGCCTACCGCAAGCAGATG[C/G]GGGGGATGCCGACCTTCCCCTGGGA 53794281 NCBI Build 36.2 Human 19q,19q13.32c,19q13.32,19q13.3,19q13,19q1 19 0 0 0 0 Homo sapiens C__25636743_10 SULT2B1 HSST2 C/T P330L|P345L MIM:604125|PharmGKB:PA36249 rs17842463 hCV25636743 Mis-sense Mutation|Mis-sense Mutation sulfotransferase family, cytosolic, 2B, member 1 NM_004605|NM_177973 ACCAGCCTGGAGCGTGAGCCCAGAC[C/T]CAACTCCAGCCCCAGCCCCAGCCCC 53794411 NCBI Build 36.2 Human 19q1,19q13,19q13.3,19q13.32,19q13.32c,19q 19 .03 0 0 0 Homo sapiens C__25636997_20 CYP4F8 CPF8|CYPIVF8 C/T hCV25636997 cytochrome P450, family 4, subfamily F, polypeptide 8 NM_007253 TCAACTTGTGCCACCCTGACATCGT[C/T]CGATCTGTCATCAATACCTCAGGTA 15589933 NCBI Build 36.2 Human 19p13,19p1,19p13.1,19p13.12,19p13.12a,19p 19 0 .01 0 0 Homo sapiens C__25638656_10 CYP8B1 CP8B|CYP12 A/G P88S MIM:602172 rs9865715 hCV25638656 Mis-sense Mutation cytochrome P450, family 8, subfamily B, polypeptide 1 NM_004391 TTTCTCTGTGTGTCCTTGAGGATGG[A/G]GCCAAAGGAGAGGGGGTCCATGACG 42892051 NCBI Build 36.2 Human 3p2,3p22,3p22.1,3p22.1a,3p 3 0 .08 0 0 Homo sapiens C__25638664_10 CYP8B1 CP8B|CYP12 C/T K238R MIM:602172 rs35764459 hCV25638664 Mis-sense Mutation cytochrome P450, family 8, subfamily B, polypeptide 1 NM_004391 CTGGCTGTGGCTCACGGAGAGCATC[C/T]TGTGAAAGAGACGCTGGAGTCGGCC 42891600 NCBI Build 36.2 Human 3p2,3p22,3p22.1,3p22.1a,3p 3 0 .03 0 0 Homo sapiens C__25638666_30 CYP8B1 CP8B|CYP12 A/G H301Y MIM:602172 hCV25638666 Mis-sense Mutation cytochrome P450, family 8, subfamily B, polypeptide 1 NM_004391 CTCACAGCCCGAATAGCTTCTGGGT[A/G]CTTCAGGAGGTACAAGAGGGCCCAG 42891412 NCBI Build 36.2 Human 3p2,3p22,3p22.1,3p22.1a,3p 3 .01 0 0 0 Homo sapiens C__25638929_10 CHST6 MCDC1 C/T MIM:605294 rs35036798 hCV25638929 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 GGCAGCACCAGATCAAGGGCGAGGT[C/T]GCGCTGCTCGTCCTCAGAGTACACA 74070123 NCBI Build 36.2 Human 16q2,16q23.1,16q23.1a,16q23,16q 16 0 0 0 0 Homo sapiens C__25639097_20 PON2 C/G L172V|L160V MIM:602447|PharmGKB:PA33530 rs17876152 hCV25639097 Mis-sense Mutation|Mis-sense Mutation paraoxonase 2 NM_000305|NM_001018161 GTGGCATAGAAATGTGCCGGTCCAA[C/G]AGCTGTGATGTCATTCACACTGAAA 94877330 NCBI Build 36.2 Human 7q,7q21.3b,7q21.3,7q21,7q2 7 0 .02 0 0 Homo sapiens C__25639160_20 SLCO1B3 OATP8|OATP1B3|SLC21A8|LST-3TM13|LST3 A/G MIM:605495 hCV25639160 solute carrier organic anion transporter family, member 1B3 NM_019844 AATCTGCGAAAGCAAATCAGTTGCC[A/G]GCCTAACCTTGACCTATGATGGGTT 20923810 NCBI Build 36.2 Human 12p,12p12.2a,12p12.2,12p12,12p1 12 .02 0 0 0 Homo sapiens C__25767468_20 XDH XO|XOR C/G L1091V MIM:607633|PharmGKB:PA37404 hCV25767468 Mis-sense Mutation xanthine dehydrogenase NM_000379 GGATCCCATGGGCTCCTTACATAGA[C/G]GGCCTGTCCATTGAGGTCAGCGCTG 31423897 NCBI Build 36.2 Human 2p2,2p23,2p23.1,2p23.1a,2p 2 0 .01 0 0 Homo sapiens C__25922082_30 FMO2 FLJ40826|FMO1B1 A/G A367A MIM:603955 rs7536646 hCV25922082 Silent Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CTCACCTGGACAAGTCAACCCTCGC[A/G]TGCATTGGTCTCATCCAGCCCCTAG 169441315 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 .14 0 0 Homo sapiens C__25922168_20 FMO2 FLJ40826|FMO1B1 C/G T391R MIM:603955 rs28369899 hCV25922168 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 GAACTTCAAGCTCGTTGGGTGACAA[C/G]AGTTTTCAAAGGTAAGTGTGTAGGC 169441386 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 .01 0 0 Homo sapiens C__25922378_20 CYP1A1 AHH|AHRR|CP11|CYP1|P1-450|P450-C|P450DX CYP1A1,g.233T>C A/G T78I MIM:108330 rs17861094 hCV25922378 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 1 NM_000499 CAGCACCACCACGGGTGTGGAGCCA[A/G]TTCGGATCTGCAGCACGTCCCCATA 72802259 NCBI Build 36.2 Human 15q,15q24.1b,15q24,15q24.1,15q2 15 0 .08 0 0 Homo sapiens C__25922626_30 GSTM3 GST5|GSTB|GTM3|GSTM3-3|MGC3310|MGC3704 A/G C190C MIM:138390 hCV25922626 Silent Mutation glutathione S-transferase M3 (brain) NM_000849 GTGCAGGAAACGTCACCTCAAAACG[A/G]CACATGAAAGCCTTCAGGTTTGGGA 110081611 NCBI Build 36.2 Human 1p,1p13.3b,1p13.3,1p1,1p13 1 0 0 0 0 Homo sapiens C__25927055_20 CHST8 A/G K234K MIM:610190 hCV25927055 Silent Mutation carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 NM_022467 CCGTCCACTATGGCAGCGCTCTCAA[A/G]CGCCTGGACACCTTCGACCGCCAGG 38955235 NCBI Build 36.2 Human 19q1,19q13.1,19q13,19q13.11,19q13.11b,19q 19 0 .02 0 0 Homo sapiens C__25932964_20 ABCC12 MRP9|MGC27071 G/T E102A MIM:607041 rs16945874 hCV25932964 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 AGAGGCCTTCTCAGGACCCACCCTT[G/T]CTACCTCTTCATCCCAAAGGACTCG 46732736 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .05 .29 0 0 Homo sapiens C__25934508_10 ATP7A MK|MNK|RP3-465G10.1 A/G MIM:300011|PharmGKB:PA72 hCV25934508 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 ACCATATCCAAAGCACATTGCTGAA[A/G]ACCAAGGGTGTGACAGACATTAAAA 77130600 NCBI Build 36.2 Human Xq21.1,Xq2,Xq21.1a,Xq21,Xq X 0 0 0 0 Homo sapiens C__25935127_30 ABCC10 MRP7|SIMRP7|EST182763 C/T L866F hCV25935127 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 10 NM_033450 CTTAGCCATCCTCTTCTCTCTGCTT[C/T]TCATGCAAGGTGAGAGCGTGCCTGG 43520060 NCBI Build 36.2 Human 6p2,6p21,6p21.1,6p21.1c,6p 6 0 .02 0 0 Homo sapiens C__25935630_20 CYP39A1 C/G MIM:605994 hCV25935630 UTR 5 cytochrome P450, family 39, subfamily A, polypeptide 1 NM_016593 TCCCAACCTTTCTGCTGCAACTTTT[C/G]CAGCTCTCCTTCGTAACTGTAGCTT 46728396 NCBI Build 36.2 Human 6p12.3,6p12,6p1,6p12.3e,6p 6 0 0 0 0 Homo sapiens C__25936251_20 ABCC12 MRP9|MGC27071 A/C L311L MIM:607041 hCV25936251 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 ATTTCTCCCAGGCATACATTTTGAT[A/C]AGCCTGATGCAGGTCAGAAACTCAT 46729686 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .03 0 0 Homo sapiens C__25936442_20 CYP39A1 C/G L17V MIM:605994 hCV25936442 Mis-sense Mutation cytochrome P450, family 39, subfamily A, polypeptide 1 NM_016593 TTCTTCCGCTGAAGGAGTAAGAACA[C/G]AGCAAGGCAACCCAGGATTATAATC 46728230 NCBI Build 36.2 Human 6p12.3,6p12,6p1,6p12.3e,6p 6 0 .01 0 0 Homo sapiens C__25937173_30 CYP39A1 A/G P415S MIM:605994 hCV25937173 Mis-sense Mutation cytochrome P450, family 39, subfamily A, polypeptide 1 NM_016593 CCCAGCTGTCTCACTGACCTTGCAG[A/G]ACACTGGAACTTCCCGCTTCCAAAT 46662780 NCBI Build 36.2 Human 6p12.3,6p12,6p1,6p12.3e,6p 6 0 0 0 0 Homo sapiens C__25937508_20 ADHFE1 HOT|ADH8|FLJ32430|HMFT2263|MGC48605 A/C MIM:611083 hCV25937508 alcohol dehydrogenase, iron containing, 1 NM_144650 GAAAATCCTTATGTTTTAGGCATCA[A/C]TTCGAGAGCCATCAAACCCACACTG 67523660 NCBI Build 36.2 Human 8q1,8q13,8q13.1,8q13.1b,8q 8 0 0 0 0 Homo sapiens C__25970125_10 GPX5 C/T P85L| MIM:603435 hCV25970125 Mis-sense Mutation|Intron glutathione peroxidase 5 (epididymal androgen-related protein) NM_001509|NM_003996 CCTCTAACTGCAGAACTAAATGCAC[C/T]CCAGGAGGAGCTGAAGCCCTATGGT 28607546 NCBI Build 36.2 Human 6p2,6p22,6p22.1,6p22.1b,6p 6 .01 0 0 0 Homo sapiens C__25970620_30 ABCC12 MRP9|MGC27071 G/T I9L MIM:607041 rs16945901 hCV25970620 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 CGGCCTCGCTGGTCCAGATCTGAGA[G/T]AAGGTAGGGTCCTTCACCCACCATC 46737812 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .11 0 0 Homo sapiens C__25971140_10 ABCC12 MRP9|MGC27071 C/T N26D MIM:607041 hCV25971140 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 GGGATCATGGTCTTCAGGCTGGGGT[C/T]ATATCTTTCTGCAAAGGATCTCCGC 46737761 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .09 0 0 Homo sapiens C__25971601_20 SULT1A1 PST|STP|STP1|P-PST|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2 T/C K147K|K147K|K147K|K147K|K69K MIM:171150|PharmGKB:PA343 rs1042005 hCV25971601 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 CCCAGGTCCCAGGCTCAGGGTGCAC[T/C]TTGGCCATGTGGTAGAAGTGGTAGT 28525831 NCBI Build 36.2 Human 16p1,16p11.2,16p11.2e,16p11,16p 16 0 0 0 0 Homo sapiens C__27860313_10 NR3C1 GR|GCR|GRL|GCCR A/C M747I|M747I|M747I|M747I|M747I||M748I MIM:138040|PharmGKB:PA181 hCV27860313 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Intron|Mis-sense Mutation nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 TTTCAGCTAACATCTCGGGGAATTC[A/C]ATACTCATGGTCTTATCCAAAAATG 142641740 NCBI Build 36.2 Human 5q31,5q3,5q31.3,5q31.3e,5q 5 0 0 0 0 Homo sapiens C__27860566_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/G Y4* MIM:603377|PharmGKB:PA333 hCV27860566 Nonsense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 CCTCTGAGGGCGGCATGCGGGACTA[C/G]GACGAGGTGACCGCCTTCCTGGGCG 131733575 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__27860567_10 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/G P19R MIM:603377|PharmGKB:PA333 hCV27860567 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 CTGGGCGAGTGGGGGCCCTTCCAGC[C/G]CCTCATCTTCTTCCTGCTCAGCGCC 131733619 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__27860568_10 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 G/T S28I MIM:603377|PharmGKB:PA333 hCV27860568 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 CTCATCTTCTTCCTGCTCAGCGCCA[G/T]CATCATCCCCAATGGCTTCACCGGC 131733646 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__27860569_10 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/G N32S MIM:603377|PharmGKB:PA333 hCV27860569 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 CTGCTCAGCGCCAGCATCATCCCCA[A/G]TGGCTTCACCGGCCTGTCCTCCGTG 131733658 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__27860571_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 G/T *387Y MIM:603377|PharmGKB:PA333 hCV27860571 Nonsense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 CAGCGATGGTTGAAGTCCCAGCATA[G/T]GTGTTGGCCTGGCTGCTGCTGCAAT 131754389 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__27860573_10 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T T440M MIM:603377|PharmGKB:PA333 hCV27860573 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 GTGATGGTGGGCAAGTTTGGAGTCA[C/T]GGCTGCCTTTTCCATGGTCTACGTG 131756075 NCBI Build 36.2 Human 5q,5q31.1b,5q3,5q31.1,5q31 5 0 0 0 0 Homo sapiens C__27860593_10 SLC7A7 LPI|LAT3|Y+LAT1|y+LAT-1 A/G S238F MIM:603593|PharmGKB:PA35925 hCV27860593 Mis-sense Mutation solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 NM_003982 GTTGAGGGTGTCCCAGCCTGAGTAG[A/G]AGAACAGAGCTGAGTACAGTGCCAG 22317899 NCBI Build 36.2 Human 14q11,14q1,14q11.2,14q11.2f,14q 14 0 0 0 0 Homo sapiens C__27860696_10 UGT1A1 GNT1|UGT1|UDPGT|UGT1A|HUG-BR1 UGT1A1*62,c.247T>C|UGT1A1*62,g.247T>C C/T L83F MIM:191740|PharmGKB:PA420 hCV27860696 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463 CACCTTGAAGACGTACCCTGTGCCA[C/T]TCCAAAGGGAGGATGTGAAAGAGTC 234333919 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__25966795_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM C/G T14T|T14T MIM:107910 hCV25966795 Silent Mutation|Silent Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 CAGGCATGGCTTCAGGCACGATGCT[C/G]GTGATGTTATAATGTATCGGGTTCA 49322360 NCBI Build 36.2 Human 15q,15q21.2b,15q21.2,15q2,15q21 15 0 .01 0 0 Homo sapiens C__25967325_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G L37L|L37L MIM:107910 hCV25967325 Silent Mutation|Silent Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 GATGTGCCCTCATAATTCCACACCA[A/G]GAGAAAAAGGCCAGTGAGGAGCAGG 49322293 NCBI Build 36.2 Human 15q21,15q2,15q21.2,15q21.2b,15q 15 0 .01 0 0 Homo sapiens C__25967663_30 SLC28A1 CNT1|HCNT1 C/G Q412E| MIM:606207|PharmGKB:PA387 rs17222386 hCV25967663 Mis-sense Mutation| solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 NM_004213|NM_201651 CAACAGAGATGCTCAGAACCTCATA[C/G]AAGCAGCCAGCACTGGGGCCGCCAT 83279280 NCBI Build 36.2 Human 15q2,15q25,15q25.3,15q25.3a,15q 15 0 0 0 0 Homo sapiens C__25967668_20 SLC10A1 NTCP|NTCP1 G/T MIM:182396 hCV25967668 solute carrier family 10 (sodium/bile acid cotransporter family), member 1 NM_003049 TTTCTTCAGTTGTGGCAGCTGTGTA[G/T]ATCATTTTTGTTTTATCTGTAAAGT 69312842 NCBI Build 36.2 Human 14q,14q24.2a,14q24.2,14q24,14q2 14 0 .01 0 0 Homo sapiens C__25967805_20 ABCC12 MRP9|MGC27071 A/T T989S MIM:607041 rs6500305 hCV25967805 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 CCCTGCATGGAGGAGGTGATGTGGG[A/T]GAACCAGGGTGACCGGCTGACATTC 46692357 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .21 0 0 Homo sapiens C__25967845_20 ABCC12 MRP9|MGC27071 A/G S993S MIM:607041 hCV25967845 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 GAATGATGCCCAGGCCCTGCATGGA[A/G]GAGGTGATGTGGGTGAACCAGGGTG 46692343 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .01 0 0 0 Homo sapiens C__25967886_20 ABCC12 MRP9|MGC27071 C/T I1000V MIM:607041 hCV25967886 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 TCCTTCTTGCCATAGGCGTGAATGA[C/T]GCCCAGGCCCTGCATGGAGGAGGTG 46692324 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .02 0 0 Homo sapiens C__25968299_20 SLC28A1 CNT1|HCNT1 C/G L449V| MIM:606207|PharmGKB:PA387 hCV25968299 Mis-sense Mutation| solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 NM_004213|NM_201651 CTTTATCAATGCTGCCCTCTCCTGG[C/G]TGGGAGACATGGTGGACATCCAAGG 83279391 NCBI Build 36.2 Human 15q2,15q25,15q25.3,15q25.3a,15q 15 0 0 0 0 Homo sapiens C__25968359_30 ABCC12 MRP9|MGC27071 A/G H1013Y MIM:607041 rs6500304 hCV25968359 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 GGCAGGGCCCCACATGGGACTCACT[A/G]GGTGATGCAGCTCTCCTTCTTGCCA 46692285 NCBI Build 36.2 Human 16q,16q12.1a,16q12,16q12.1,16q1 16 0 .23 0 0 Homo sapiens C__25968512_20 SLC10A1 NTCP|NTCP1 C/T MIM:182396 rs4646285 hCV25968512 solute carrier family 10 (sodium/bile acid cotransporter family), member 1 NM_003049 GGAAGACCTTGCCCAGCACAAAGGC[C/T]GTGAGGGGCATGATGCCATACTGTG 69333401 NCBI Build 36.2 Human 14q2,14q24,14q24.2,14q24.2a,14q 14 .15 .01 .14 .18 Homo sapiens C__25969303_10 UGT1A7 UDPGT|UGT1G A/G E89E MIM:606432|PharmGKB:PA37182 hCV25969303 Silent Mutation UDP glucuronosyltransferase 1 family, polypeptide A7 NM_019077 ACACTCTGGAGGATCAGGACCGGGA[A/G]TTCATGGTTTTTGCCGATGCTCGCT 234255589 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C__25970002_20 ABCC12 MRP9|MGC27071 A/G MIM:607041 rs16945903 hCV25970002 UTR 5 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 GGCCTGGGGACACTTTCACTCTATG[A/G]CAGAGAAATGGCAAAGGTTATTGAG 46737892 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .11 0 0 Homo sapiens C__27859821_10 CYP2J2 CPJ2 CYP2J2*6,c.1210A>T|CYP2J2*6,g.25662A>T A/T N404Y MIM:601258 hCV27859821 Mis-sense Mutation cytochrome P450, family 2, subfamily J, polypeptide 2 NM_000775 GGGTCCCTGTGCAGCGCCGTCAAAT[A/T]GGTCAGGATCATGGTACCCTAGAGA 60139345 NCBI Build 36.2 Human 1p3,1p32,1p32.1,1p32.1c,1p 1 0 0 0 0 Homo sapiens C__27859822_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*17,c.566 T>C|CYP3A4*17,c.566T>C|CYP3A4*17,g.15615T>C A/G S189F MIM:124010|PharmGKB:PA130 rs4987161 hCV27859822 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 GTTGAGAGAGTCGATGTTCACTCCA[A/G]ATGATGTGCTAGTGATCACATCCAT 99204017 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__27859823_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*18A,c.878T>C|CYP3A4*18A,g.20070T>C|CYP3A4*18B,c.878T>C|CYP3A4*18B,g.20070T>C A/G P293L MIM:124010|PharmGKB:PA130 rs28371759 hCV27859823 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 GATAATTGATTGGGCCACGAGCTCC[A/G]GATCGGACAGAGCTGAAAGGAGAGG 99199562 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 .02 .04 Homo sapiens C__27859852_20 DPYD DHP|DPD|MGC70799|MGC132008 G/T MIM:274270|PharmGKB:PA145 hCV27859852 dihydropyrimidine dehydrogenase NM_000110 AATCGAGCCAAAAAGGAAGCACAAC[G/T]TATACTTGCAGGCCCAGCACCAAAA 97937574 NCBI Build 36.2 Human 1p,1p21.3b,1p21.3,1p21,1p2 1 0 0 0 0 Homo sapiens C__27859981_20 FMO3 FMOII|MGC34400|dJ127D3.1 A/G N61S|N61S MIM:136132 hCV27859981 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 AGCATTTACAAATCAGTCTTTTCCA[A/G]CTCTTCCAAAGAGATGATGTGTTTC 169339599 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 0 0 0 Homo sapiens C__27859982_20 FMO3 FMOII|MGC34400|dJ127D3.1 C/T T82M|T82M MIM:136132 hCV27859982 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TTTCCCGATGACTTCCCCAACTTTA[C/T]GCACAACAGCAAGATCCAGGAATAT 169339662 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 0 0 0 Homo sapiens C__27859983_20 FMO3 FMOII|MGC34400|dJ127D3.1 A/G I434M|I434M MIM:136132 hCV27859983 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TACAGACAGATTACATTGTTTATAT[A/G]GATGAACTCTCCTCCTTCATTGGGG 169352909 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 0 0 0 Homo sapiens C__27529340_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/T *305C|*305C MIM:606882 hCV27529340 Nonsense Mutation|Nonsense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 CCCTCTGCAGAGCCACTGGGCTGGT[A/T]CAAGAAGGGTCATACTTTACTTGGG 51446442 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C__27529372_20 CYP1B1 CP1B|GLC3A CYP1B1*25,g.4437C>T A/G R469W MIM:601771|PharmGKB:PA27094 rs28936701 hCV27529372 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 TTAGAAAGTTCTTCGCCAATGCACC[A/G]CCTTTTGCCCACTGAAAAAATCATC 38151596 NCBI Build 36.2 Human 2p2,2p22,2p22.2,2p22.2a,2p 2 0 0 0 0 Homo sapiens C__27529373_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha A/G R453C MIM:609506 hCV27529373 Mis-sense Mutation cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 GCCAGGCGTCTCCCCATACAGCTGC[A/G]CTTGCCAAAGCCAAAGGGAAGAGAT 56443717 NCBI Build 36.2 Human 12q1,12q14.1a,12q14,12q14.1,12q 12 0 0 0 0 Homo sapiens C__27529541_20 NAT1 AAC1|NATI NAT1*17,g.190C>T C/T R64W MIM:108345|PharmGKB:PA17 hCV27529541 Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662 TTTTGATCAAGTTGTGAGAAGAAAT[C/T]GGGGTGGATGGTGTCTCCAGGTCAA 18124026 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 0 0 0 0 Homo sapiens C__27530743_10 NAT1 AAC1|NATI NAT1*11A,g.-344C>T|NAT1*11B,g.-344C>T|NAT1*11C,g.-344C>T C/T MIM:108345|PharmGKB:PA17 rs4986988 hCV27530743 Intron N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662 TGATTCTCCTGCCTACATCAGAAGA[C/T]GTTTATAAGCCTATTTTAAAGGATA 18123493 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 .01 0 0 0 Homo sapiens C__27530744_10 NAT1 AAC1|NATI NAT1*23,g.777T>C|NAT1*27,g.777T>C C/T S259S MIM:108345|PharmGKB:PA17 rs4986991 hCV27530744 Silent Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662 ATCTAATAGAGTTCAAGACTCTGAG[C/T]GAGGAAGAAATAGAAAAAGTGCTGA 18124613 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 0 .01 0 0 Homo sapiens C__27530745_20 NAT1 AAC1|NATI NAT1*27,g.21T>G G/T L7L MIM:108345|PharmGKB:PA17 rs4986992 hCV27530745 Silent Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662 GGATCATGGACATTGAAGCATATCT[G/T]GAAAGAATTGGCTATAAGAAGTCTA 18123857 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 0 .01 0 0 Homo sapiens C__27530845_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G N386S|N386S MIM:609523 hCV27530845 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 ACATCCAGTGGAGGTGTCACAGGCA[A/G]TGACGTCATTATGCACTTCACGCTC 19508902 NCBI Build 36.2 Human 17p1,17p11.2,17p11,17p11.2d,17p 17 0 0 0 0 Homo sapiens C__27530948_10 DPYD DHP|DPD|MGC70799|MGC132008 A/T MIM:274270|PharmGKB:PA145 hCV27530948 dihydropyrimidine dehydrogenase NM_000110 ACCACAGTTGATACACATTTCTTCA[A/T]CAATCATAGCCACAACTTGCTCTAC 97320535 NCBI Build 36.2 Human 1p2,1p21,1p21.3,1p21.3b,1p 1 0 0 0 0 Homo sapiens C__27530982_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G R457*|R457* MIM:107910 hCV27530982 Nonsense Mutation|Nonsense Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 CCTTGCAATGTCTTCACGTGGAATC[A/G]TCTCAGAAGTGTAACGAGGATGGCT 49290440 NCBI Build 36.2 Human 15q21,15q2,15q21.2,15q21.2b,15q 15 0 0 0 0 Homo sapiens C__27530987_20 CYP27A1 CTX|CP27|CYP27 C/T Q249* MIM:606530 hCV27530987 Nonsense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 CGTCAGATCCATCGGGTTAATGTTC[C/T]AGAACTCACTCTATGCCACCTTCCT 219385617 NCBI Build 36.2 Human 2q3,2q35,2q35e,2q 2 0 0 0 0 Homo sapiens C__27531001_10 CHST6 MCDC1 C/G MIM:605294 hCV27531001 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 CTTGAGCACCACGTGGCTGTAGGAG[C/G]GGCAGGCCTCCCGGGCCAGGGTGAA 74070731 NCBI Build 36.2 Human 16q2,16q23.1,16q23.1a,16q23,16q 16 0 0 0 0 Homo sapiens C____918706_10 CYP1B1 CP1B|GLC3A C/T N374D MIM:601771|PharmGKB:PA27094 hCV918706 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 AGGACATAGGGCAGGTTGGGCTGGT[C/T]ACCCATACAAGGCAGACGGTCCCTC 38151881 NCBI Build 36.2 Human 2p2,2p22,2p22.2,2p22.2a,2p 2 0 0 0 0 Homo sapiens C____918707_30 CYP1B1 CP1B|GLC3A C/T H368R MIM:601771|PharmGKB:PA27094 hCV918707 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 GGGCTGGTCACCCATACAAGGCAGA[C/T]GGTCCCTCCCCACGACCTGATCCAA 38151898 NCBI Build 36.2 Human 2p2,2p22,2p22.2,2p22.2a,2p 2 .01 0 0 0 Homo sapiens C____928498_30 SLC22A2 OCT2|MGC32628 C/T V502V MIM:602608|PharmGKB:PA331 rs316003 hCV928498 Silent Mutation solute carrier family 22 (organic cation transporter), member 2 NM_003058 CCAGACCTCCAGCAACCAAGCCAAG[C/T]ACGCCTGAAAGCCAAACAGATGAAT 160565822 NCBI Build 36.2 Human 6q2,6q25,6q25.3,6q25.3f,6q 6 .32 .47 .2 .2 Homo sapiens C____928536_30 SLC22A1 OCT1|HOCT1|oct1_cds C/G F160L|F160L MIM:602607|PharmGKB:PA329 rs683369 hCV928536 Mis-sense Mutation|Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 1 NM_003057|NM_153187 AGTCCTGTTTGAATGCGGGCTTCTT[C/G]TTTGGCTCTCTCGGTGTTGGCTACT 160471194 NCBI Build 36.2 Human 6q2,6q25,6q25.3,6q25.3f,6q 6 .2 .01 .19 .2 Homo sapiens C____931601_20 CHST3 C6ST|C6ST1 A/G MIM:603799 rs730721 hCV931601 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 TTTGGCACCCCGTAACTGGACTGGG[A/G]ACAAATTTGTTACGTGTTTCCAAGG 73442730 NCBI Build 36.2 Human 10q2,10q22.1,10q22,10q22.1e,10q 10 0 0 0 0 Homo sapiens C____931602_20 CHST3 C6ST|C6ST1 C/G MIM:603799 rs730722 hCV931602 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 TACCTCAAAAGCACAAAGCAGAATT[C/G]GCAACTTCACTTGTCTCAAGAGCTC 73442656 NCBI Build 36.2 Human 10q,10q22.1e,10q22,10q22.1,10q2 10 .09 .4 .19 .27 Homo sapiens C____931603_20 CHST3 C6ST|C6ST1 C/T MIM:603799 rs731027 hCV931603 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 CATCCCCATTCCCAAAGTCAGAAAG[C/T]GAAGCCAGATCTCAAGGGCTGATAC 73442342 NCBI Build 36.2 Human 10q2,10q22.1,10q22,10q22.1e,10q 10 .49 .36 .17 .07 Homo sapiens C____938195_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/C G85V|G85V MIM:606882 hCV938195 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 CAGGGAAACCTTCATGCTGATGATG[A/C]CTTTCAAATTGGAAATCCTGTCCTC 51447103 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 0 0 0 0 Homo sapiens C____938196_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G Q95*|Q95* MIM:606882 hCV938196 Nonsense Mutation|Nonsense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 ACATATTTCACAGTGGCACTGCCTT[A/G]TTCCAGGGAAACCTTCATGCTGATG 51447074 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938198_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G Q111*|Q111* MIM:606882 hCV938198 Nonsense Mutation|Nonsense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 ATGTCCCCAATTTGATGGCAAACCT[A/G]TTGCAGGCACACAACCGATGGCACA 51447026 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938199_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 G/T *271C|*271C MIM:606882 hCV938199 Nonsense Mutation|Nonsense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 CAATATTTTCTTCAATATTCAAGAC[G/T]CAAGACTTACAATGCATTCCATCTA 51446544 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 0 0 0 0 Homo sapiens C____938200_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G Q289*|Q289* MIM:606882 hCV938200 Nonsense Mutation|Nonsense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GCAGTTTTGTTCTCCAAGGACACTT[A/G]AATACTTTGAACCCCTAGGAGCTGG 51446492 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938204_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G S492L|S492L MIM:606882 hCV938204 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 TGCACAGGTCATGCCTTTGATCTGT[A/G]AGAAGCACTTCTGCGGTGCCACTGC 51442697 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938205_30 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G Q544*|Q544* MIM:606882 hCV938205 Nonsense Mutation|Nonsense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 TCAAAACCCAGGTCCTGGATGAACT[A/G]AGCTATCTCGAGGGGCTGGATGACC 51440658 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938208_30 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T K952R| MIM:606882 rs732774 hCV938208 Mis-sense Mutation|Intron ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 AGGCATTCAACTTACAGGAAAGTAT[C/T]TCTGAACAACACCAAAATCGATAAA 51421809 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 .46 .49 .39 .43 Homo sapiens C____938211_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/G H642D| MIM:606882 hCV938211 Mis-sense Mutation|Intron ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 TACTGCTTTATTTCCATCTTGTGGT[C/G]CAAGTGATGAGCGTTGGGGTTTCTC 51433996 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938212_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/C R645M| MIM:606882 hCV938212 Mis-sense Mutation|Intron ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GTGTTCTACCTACTGCTTTATTTCC[A/C]TCTTGTGGTCCAAGTGATGAGCGTT 51433986 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938213_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T I665M| MIM:606882 hCV938213 Mis-sense Mutation|Intron ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GTATCAGCATATAGATCATTAAGGC[C/T]ATGACAGGGATGCCAAACACCAGGC 51432411 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938214_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T R691G| MIM:606882 hCV938214 Mis-sense Mutation|Intron ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 AAGATGAGATTTAGAATGGACAGTC[C/T]TGGAATGATGTTGTGGTCCAGGACC 51432335 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C____938223_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G P744S| MIM:606882 hCV938223 Mis-sense Mutation|Intron ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 ACAGCAACCACCAGGATGACCAGAG[A/G]ATAAACATAAGCAATGCTTGTGGCC 51430573 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C__15753412_60 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/C MIM:600409 rs2299866 hCV15753412 Intron peroxisome proliferator-activated receptor delta NM_006238 GCCCTGCCCTTGTCCTTATGCCAAG[A/C]TGCCTCCTTTGTGAGGCAGCTGGTT 35467688 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 0 0 0 0 Homo sapiens C__15755991_30 SLC10A2 ASBT|ISBT|NTCP2 A/G MIM:601295 rs2301159 hCV15755991 UTR 3 solute carrier family 10 (sodium/bile acid cotransporter family), member 2 NM_000452 AAGAGCTCTTTGCCAAATACACACC[A/G]TTTGAAAGAATTATGTTTTTCCTTG 102495729 NCBI Build 36.2 Human 13q3,13q33.1,13q33,13q33.1b,13q 13 .23 .37 .26 .27 Homo sapiens C__15758343_20 SULT2B1 HSST2 C/T L198L|L213L MIM:604125|PharmGKB:PA36249 rs2302948 hCV15758343 Silent Mutation|Silent Mutation sulfotransferase family, cytosolic, 2B, member 1 NM_004605|NM_177973 CTTCCTATTTATCACCTACGAGGAG[C/T]TGCAGCAGGTGAGTCCCCACCTCCT 53787877 NCBI Build 36.2 Human 19q1,19q13,19q13.3,19q13.32,19q13.32c,19q 19 .29 .2 .07 .1 Homo sapiens C__15758350_30 SULT2B1 HSST2 A/G I225V|I240V MIM:604125|PharmGKB:PA36249 rs2302947 hCV15758350 Mis-sense Mutation|Mis-sense Mutation sulfotransferase family, cytosolic, 2B, member 1 NM_004605|NM_177973 GCTGGGCAAGGAGGCACTGGGCTCC[A/G]TCGTGGCACACTCAACCTTCAGCGC 53791880 NCBI Build 36.2 Human 19q1,19q13,19q13.3,19q13.32,19q13.32c,19q 19 0 0 .01 0 Homo sapiens C__15783507_20 PON3 C/T N107D MIM:602720 rs2375003 hCV15783507 Mis-sense Mutation paraoxonase 3 NM_000940 CCATGTGGATTAAATAATTCTTTGT[C/T]AAATCCACCACTGATTTCTAGCGCT 94839469 NCBI Build 36.2 Human 7q2,7q21,7q21.3,7q21.3b,7q 7 0 0 0 0 Homo sapiens C__15805426_20 CHST11 C4ST|C4ST1|C4ST-1|HSA269537 C/T MIM:610128 rs2463018 hCV15805426 carbohydrate (chondroitin 4) sulfotransferase 11 NM_018413 TCACGTCCTCCAGAGGCTGAAAGAC[C/T]ATCAGCATCTTGGTAACTGCCATGC 103677127 NCBI Build 36.2 Human 12q2,12q23,12q23.3,12q23.3b,12q 12 .27 .21 .17 .33 Homo sapiens C__15818662_10 TPMT C/G MIM:187680|PharmGKB:PA356 rs2842944 hCV15818662 UTR 3 thiopurine S-methyltransferase NM_000367 CACGTCAAGTTCAACATCAGCGTGG[C/G]CAACAAAGTGAGACCCTGTCTCTAC 18237260 NCBI Build 36.2 Human 6p2,6p22.3,6p22,6p22.3d,6p 6 0 0 0 0 Homo sapiens C__15823752_20 ABCC10 MRP7|SIMRP7|EST182763 C/T Y943Y rs2125740 hCV15823752 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 10 NM_033450 ACATCCGTTTCTACCTCACCGTGTA[C/T]GCGACCATTGCTGGTGTAAATTCCC 43520913 NCBI Build 36.2 Human 6p2,6p21,6p21.1,6p21.1c,6p 6 0 .17 0 0 Homo sapiens C__15825757_30 SLC13A1 NAS1|NaSi-1 C/T N174S MIM:606193 rs2140516 hCV15825757 Mis-sense Mutation solute carrier family 13 (sodium/sulfate symporters), member 1 NM_022444 TTCTAGTCCGTGGTTGGTTGATCCG[C/T]TGAAGTAAGTCATCTGAGTGGCCTC 122596470 NCBI Build 36.2 Human 7q3,7q31,7q31.3,7q31.32,7q31.32b,7q 7 .29 .25 .5 .36 Homo sapiens C__15851825_20 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || MIM:171060|PharmGKB:PA268 rs2230027 hCV15851825 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 TTTCCTGTCGTAGAATAGCATGAAA[A/G]AACTTCTGCCTAATTTTCCTGATCT 86920273 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 0 .05 0 0 Homo sapiens C__15852557_20 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 C/T MIM:171050|PharmGKB:PA267 rs2214102 hCV15852557 UTR 5 ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 CATTGCGGTCCCCTTCAAGATCCAT[C/T]CCGACCTGAAGAGAAACCGCAGCTC 87067437 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .1 0 0 0 Homo sapiens C__15853243_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T |||| MIM:158343|PharmGKB:PA244 rs16967004 hCV15853243 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TCTCTCTTCTGCCAGGGGTCACGGG[C/T]GTCAGCGGTCCAGGGAAGGAAGCAA 16103995 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 0 0 0 0 Homo sapiens C__15853280_10 ALDH4A1 P5CD|ALDH4|P5CDh|P5CDhL|P5CDhS|RP11-128M10.1 A/G D460D|D460D MIM:606811 rs2230708 hCV15853280 Silent Mutation|Silent Mutation aldehyde dehydrogenase 4 family, member A1 NM_003748|NM_170726 GCTGCAGCGTCTCCTTGTACTTGTC[A/G]TCCGGGTAGACGTACACAGACAGTA 19074543 NCBI Build 36.2 Human 1p3,1p36,1p36.13,1p36.1,1p36.13b,1p 1 .21 .41 .24 .27 Homo sapiens C__15853281_20 ALDH4A1 P5CD|ALDH4|P5CDh|P5CDhL|P5CDhS|RP11-128M10.1 C/T I470V|I470V MIM:606811 rs2230709 hCV15853281 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 4 family, member A1 NM_003748|NM_170726 AGGCCATAGCTGGTGGTGCTGTCAA[C/T]CAGCTGCAGCGTCTCCTTGTACTTG 19074515 NCBI Build 36.2 Human 1p3,1p36,1p36.13,1p36.1,1p36.13b,1p 1 .14 .01 0 0 Homo sapiens C___2334580_30 SLC29A1 ENT1|MGC1465|MGC3778 C/T |||| MIM:602193|PharmGKB:PA154 rs186556 hCV2334580 |||| solute carrier family 29 (nucleoside transporters), member 1 NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 TATCAAAGCCATCCTGAAAAATGTA[C/T]GTAGGGGAGGTTATCCTATCTTCTA 44307180 NCBI Build 36.2 Human 6p2,6p21,6p21.1,6p21.1b,6p 6 0 .07 0 0 Homo sapiens C___2384441_30 XDH XO|XOR C/T E1239E MIM:607633|PharmGKB:PA37404 rs207440 hCV2384441 Silent Mutation xanthine dehydrogenase NM_000379 AGTCGCGGAGCAGGGACACCCTGAA[C/T]TCAATGGGGATGCTGCCAAATGCCG 31415916 NCBI Build 36.2 Human 2p2,2p23,2p23.1,2p23.1a,2p 2 .06 .03 .01 0 Homo sapiens C___2390961_20 SLC22A4 OCTN1|MGC34546|MGC40524 G/T MIM:604190|PharmGKB:PA332 rs455649 hCV2390961 Acceptor Splice Site solute carrier family 22 (organic cation transporter), member 4 NM_003059 GTTTTGTGTTATACTGCATTCTCTA[G/T]GTTTGGCAGGAAGAACGTTCTCTTC 131677205 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C___2394439_40 CHST6 MCDC1 C/T MIM:605294 rs436153 hCV2394439 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 CTCGGGGAAAGGCACTGCAGGCGGG[C/T]GGCGAGCACAGTGCACGGCTCACGG 74070832 NCBI Build 36.2 Human 16q,16q23,16q23.1a,16q23.1,16q2 16 0 0 0 0 Homo sapiens C___2396062_20 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/G R239* MIM:609300 hCV2396062 Nonsense Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 AGTATTTTATTCAGCAGATCATTTC[A/G]TATTTTAACATGGCTCTTTAATTTT 104583821 NCBI Build 36.2 Human 10q2,10q24,10q24.3,10q24.32,10q24.32b,10q 10 0 0 0 0 Homo sapiens C___2409295_20 SLC10A2 ASBT|ISBT|NTCP2 C/T P142P MIM:601295 rs157381 hCV2409295 Silent Mutation solute carrier family 10 (sodium/bile acid cotransporter family), member 2 NM_000452 TTTTGGTATAGATAAGGAGGCACAG[C/T]GGCATCATTCCGAGGGCAAGCAGTG 102508685 NCBI Build 36.2 Human 13q3,13q33.1,13q33,13q33.1b,13q 13 0 .08 0 0 Homo sapiens C___2409298_30 SLC10A2 ASBT|ISBT|NTCP2 A/C A171S MIM:601295 rs188096 hCV2409298 Mis-sense Mutation solute carrier family 10 (sodium/bile acid cotransporter family), member 2 NM_000452 CCAATGGAAACAGGAACAACGAGAG[A/C]AACCAGAGATGTACCTAAAGATGAC 102503045 NCBI Build 36.2 Human 13q3,13q33.1,13q33,13q33.1b,13q 13 .08 .05 .3 .21 Homo sapiens C___2409304_30 SLC10A2 ASBT|ISBT|NTCP2 A/C MIM:601295 rs279941 hCV2409304 UTR 3 solute carrier family 10 (sodium/bile acid cotransporter family), member 2 NM_000452 CATAAGAATTCAGTTTTGGTGTTAA[A/C]GATGTTTTCATTCTCGGTGTTCCCT 102496169 NCBI Build 36.2 Human 13q3,13q33.1,13q33,13q33.1b,13q 13 .08 .04 .27 .23 Homo sapiens C___2409305_30 SLC10A2 ASBT|ISBT|NTCP2 C/G MIM:601295 rs279942 hCV2409305 UTR 3 solute carrier family 10 (sodium/bile acid cotransporter family), member 2 NM_000452 TTACATCTACTTTAACATACAGAAA[C/G]TCAGGTTGTCATCTATGGGCTAGGA 102496111 NCBI Build 36.2 Human 13q3,13q33.1,13q33,13q33.1b,13q 13 .2 .35 .26 .26 Homo sapiens C___2409308_20 SLC10A2 ASBT|ISBT|NTCP2 A/G T262M MIM:601295 hCV2409308 Mis-sense Mutation solute carrier family 10 (sodium/bile acid cotransporter family), member 2 NM_000452 ACATAGCTGCGTGTTCTGCATCCCC[A/G]TTTCAAAAGCAACCGTTCGGCACCT 102499774 NCBI Build 36.2 Human 13q,13q33.1b,13q33,13q33.1,13q3 13 0 0 0 0 Homo sapiens C___2416580_30 CYP8B1 CP8B|CYP12 A/C G266G MIM:602172 rs741817 hCV2416580 Silent Mutation cytochrome P450, family 8, subfamily B, polypeptide 1 NM_004391 ACTTGTCCTGCATAGCTGAGGGTAC[A/C]CCCTGCTCCCTCAGAAACTGAAGCA 42891515 NCBI Build 36.2 Human 3p2,3p22,3p22.1,3p22.1a,3p 3 0 .04 0 0 Homo sapiens C___2416581_30 CYP8B1 CP8B|CYP12 C/T P477P MIM:602172 rs735320 hCV2416581 Silent Mutation cytochrome P450, family 8, subfamily B, polypeptide 1 NM_004391 GCATGGTGCCAAAACCCCAGCGCTG[C/T]GGGTCAACATGGGGTAGTGGTGTGT 42890882 NCBI Build 36.2 Human 3p2,3p22,3p22.1,3p22.1a,3p 3 .21 .12 0 0 Homo sapiens C___2431875_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E CYP2E1*5A,g.-1293G>C|CYP2E1*5B,g.-1293G>C G/C MIM:124040|PharmGKB:PA129 rs3813867 hCV2431875 cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 AACGCCCCTTCTTGGTTCAGGAGAG[G/C]TGCAGTGTTAGGTGCAGCACAACCA 135189595 NCBI Build 36.2 Human 10q2,10q26,10q26.3,10q26.3f,10q 10 .01 .08 .22 .19 Homo sapiens C___2461148_10 FMO3 FMOII|MGC34400|dJ127D3.1 G/A | MIM:136132 rs11578281 hCV2461148 UTR 5|UTR 5 flavin containing monooxygenase 3 NM_001002294|NM_006894 CACAGAAGAAAAGAAGACAAAGAAC[G/A]GGTAGGAAAATTAAAAAGGTAGGAG 169326728 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 0 0 0 0 Homo sapiens C___2461179_30 FMO3 FMOII|MGC34400|dJ127D3.1 A/G K158E|K158E MIM:136132 rs2266782 hCV2461179 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TCATGTGTATCCCAACCTACCAAAA[A/G]AGTCCTTTCCAGGTAAGGCCAAAAT 169343590 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .44 .42 .24 .2 Homo sapiens C___2461184_20 FMO3 FMOII|MGC34400|dJ127D3.1 C/T N285N|N285N MIM:136132 rs909530 hCV2461184 Silent Mutation|Silent Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TCCTGAGGAAAGAGCCTGTATTTAA[C/T]GATGAGCTCCCAGCAAGCATTCTGT 169349798 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .22 .34 .44 .37 Homo sapiens C___2461291_40 FMO2 FLJ40826|FMO1B1 A/G MIM:603955 rs2020869 hCV2461291 UTR 3 flavin containing monooxygenase 2 (non-functional) NM_001460 CCAGAAATGCCATCTTCACCCAGAA[A/G]CAAAGAATACTGAAGCCACTCAAGA 169444776 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .12 .15 .16 .19 Homo sapiens C___2461292_30 FMO2 FLJ40826|FMO1B1 C/T MIM:603955 rs7512785 hCV2461292 UTR 3 flavin containing monooxygenase 2 (non-functional) NM_001460 ACATAGAAAACAGCATTCTTTTTGC[C/T]AAATATGACCAAATTACTTTTATTT 169445911 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 .26 .26 .25 .36 Homo sapiens C___2461293_30 FMO2 FLJ40826|FMO1B1 C/T MIM:603955 rs7515157 hCV2461293 UTR 3 flavin containing monooxygenase 2 (non-functional) NM_001460 AAGTAGATGCAAAGCATTATAATGA[C/T]TGACACTTGTATCTAACTCCAGTCT 169446101 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .26 .4 .26 .36 Homo sapiens C___2469257_40 MAOB RP1-201D17__B.1|MGC26382 A/C MIM:309860 rs12010260 hCV2469257 monoamine oxidase B NM_000898 CCCGGGCTTCCAGAACAACCACATT[A/C]AGTCCAGAGTCATGCAGAAGTTTGG 43587917 NCBI Build 36.2 Human Xp11,Xp1,Xp11.3,Xp11.3c,Xp X 0 0 0 0 Homo sapiens C___2489280_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/G MIM:600409 rs2038067 hCV2489280 Intron peroxisome proliferator-activated receptor delta NM_006238 ACTAGAGACCCTGGTCCCAAATTCA[A/G]AACTCTAGCCAGAGTCCAGAACTGC 35482444 NCBI Build 36.2 Human 6p,6p21.31c,6p21.31,6p21,6p21.3,6p2 6 .2 .12 .18 .27 Homo sapiens C____559694_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 UGT1A1*11,c.923G>A A/G E308G||E309G|E305G|E305G|E305G|E309G|E309G|E305G|E40G MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 hCV559694 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CATGGAATTGTGGTTTTCTCTTTGG[A/G]ATCAATGGTCTCAGAAATTCCAGAG 234340477 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C____559715_20 UGT1A1 GNT1|UGT1|UDPGT|UGT1A|HUG-BR1 UGT1A1*6,c.211G>A|UGT1A1*6,g.211G>A A/G R71G| MIM:191740|PharmGKB:PA420 rs4148323 hCV559715 Mis-sense Mutation|Intron UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463|NM_007120 TGACGCCTCGTTGTACATCAGAGAC[A/G]GAGCATTTTACACCTTGAAGACGTA 234333883 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 .2 .11 Homo sapiens C____560420_10 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T R982G MIM:603201|PharmGKB:PA374 hCV560420 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 CACTGGGCAAAGGCAAAGCAGAATC[C/T]GTAAATATTGGCTTTCTGAATGGCT 169500052 NCBI Build 36.2 Human 2q31.1a,2q3,2q31,2q31.1,2q 2 0 0 0 0 Homo sapiens C____566822_10 CDA CDD G/A MIM:123920|PharmGKB:PA98 hCV566822 UTR 5 cytidine deaminase NM_001785 CTGGCTGCAGGGACACACCCAAGGG[G/A]AGGAGCTGCAATCGTGTCTGGGGCC 20788122 NCBI Build 36.2 Human 1p3,1p36,1p36.1,1p36.12,1p36.12b,1p 1 .02 0 0 0 Homo sapiens C____572769_20 NAT2 AAC2 NAT2*12A,g.803A>G|NAT2*12B,g.803A>G|NAT2*12C,g.803A>G|NAT2*12D,g.803A>G|NAT2*14C,g.803A>G|NAT2*14E,g.803A>G|NAT2*14F,g.803A>G|NAT2*14G,g.803A>G|NAT2*5B,g.803A>G|NAT2*5C,g.803A>G|NAT2*5F,g.803A>G|NAT2*5G,g.803A>G|NAT2*5H,g.803A>G|NAT2*5I,g.803A>G|NAT2*6C,g.803A>G A/G MIM:243400|PharmGKB:PA18 rs1208 hCV572769 N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 GAGGAAGAGGTTGAAGAAGTGCTGA[A/G]AAATATATTTAAGATTTCCTTGGGG 18302596 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 .44 .35 0 .03 Homo sapiens C____572770_20 NAT2 AAC2 NAT2*7A,g.857G>A|NAT2*7B,g.857G>A A/G MIM:243400|PharmGKB:PA18 rs1799931 hCV572770 N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 AATCTCGTGCCCAAACCTGGTGATG[A/G]ATCCCTTACTATTTAGAATAAGGAA 18302650 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 .01 .02 .16 .14 Homo sapiens C____587841_20 ABCB7 ABC7|ASAT|Atm1p|EST140535 A/C M401I MIM:300135|PharmGKB:PA24389 hCV587841 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 7 NM_004299 TAGCCACAGACTCATTACCTGCCAC[A/C]ATTCCCTGACTGGCGAGCACCATTA 74208076 NCBI Build 36.2 Human Xq,Xq13.3a,Xq13.3,Xq13,Xq1 X 0 0 0 0 Homo sapiens C____598859_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*55,c.1270G>A|CYP21A2*56,c.1270G>A A/G S425G MIM:201910 hCV598859 Mis-sense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 CTCCAGAGCTCTGGCCTTCGGCTGC[A/G]GTGCCCGCGTGTGCCTGGGCGAGCC 32116675 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32b,6p 6 0 0 0 0 Homo sapiens C____598861_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*35,c.1140G>C|CYP21A2*35,g.2265G>C C/G D381E MIM:201910 hCV598861 Mis-sense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 GCATCTCCGGCTACGACATCCCTGA[C/G]GGCACAGTCATCATTCCGAACCTCC 32116448 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32b,6p 6 0 0 0 0 Homo sapiens C____598867_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*29,c.1021C>T|CYP21A2*29,g.2063C>T C/T R342W MIM:201910 hCV598867 Mis-sense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 CCGGGTCCCCTACAAGGACCGTGCA[C/T]GGCTGCCCTTGCTCAATGCCACCAT 32116246 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32b,6p 6 0 0 0 0 Homo sapiens C____559624_30 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/G L269L MIM:603377|PharmGKB:PA333 rs274558 hCV559624 Silent Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 TGGCGCTGACGATGCCGGGGGTGCT[A/G]TGCGTGGCACTCTGGTGGTGAGTGT 131749073 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 .33 .31 .28 .26 Homo sapiens C____559633_30 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T MIM:603377|PharmGKB:PA333 rs274548 hCV559633 UTR 3 solute carrier family 22 (organic cation transporter), member 5 NM_003060 AAGCTGTAATGTGGGTTTTGTTTTA[C/T]TGTTTATTTGTTTGTTGTTGTATCC 131758706 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 .18 .48 .05 .08 Homo sapiens C____559636_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/G *132W MIM:603377|PharmGKB:PA333 hCV559636 Nonsense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 CACCCCCTTTGCTCATCTTGCAGTG[A/G]AACCTGGTGTGTGAGGACGACTGGA 131741971 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C____559639_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/G Y211C MIM:603377|PharmGKB:PA333 hCV559639 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 GTAGGCATGGGCCAGATCTCCAACT[A/G]TGTGGCAGCATTTGTCCTGGGTATG 131747872 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C____559643_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 G/T V446F MIM:603377|PharmGKB:PA333 hCV559643 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 TGGAGTCACGGCTGCCTTTTCCATG[G/T]TCTACGTGTACACAGCCGAGCTGTA 131756092 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C____559644_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/G K452E MIM:603377|PharmGKB:PA333 hCV559644 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 TTCCATGGTCTACGTGTACACAGCC[A/G]AGCTGTATCCCACAGTGGTGAGAAA 131756110 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C____559645_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/G S467C MIM:603377|PharmGKB:PA333 hCV559645 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 AGAAACATGGGTGTGGGAGTCAGCT[C/G]CACAGCATCCCGCCTGGGCAGCATC 131756156 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 .01 0 Homo sapiens C____559646_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T P478L MIM:603377|PharmGKB:PA333 hCV559646 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 TCCCGCCTGGGCAGCATCCTGTCTC[C/T]CTACTTCGTTTACCTTGGTAAGTCC 131756189 NCBI Build 36.2 Human 5q,5q31.1b,5q3,5q31.1,5q31 5 0 0 0 0 Homo sapiens C__33249581_10 ADH7 ADH-4 -/A MIM:600086 hCV33249581 Frame Shift InDel alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide NM_000673 GACTGGTTTGCCCTTGCATGTAAAT[-/A]CTGGTGGTGCCATCAGCCAGTACTC 100568131 NCBI Build 36.2 Human 4q2,4q23,4q23b,4q 4 0 0 0 0 Homo sapiens C__33291695_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 G/T R83L MIM:603377|PharmGKB:PA333 hCV33291695 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 CGCGAGGTGCCCCACAGCTGCCGCC[G/T]CTACCGGCTCGCCACCATCGCCAAC 131733811 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__33291738_10 SLC22A4 OCTN1|MGC34546|MGC40524 -/T F507 MIM:604190|PharmGKB:PA332 hCV33291738 Frame Shift Delete solute carrier family 22 (organic cation transporter), member 4 NM_003059 CTGATTGGAATCCTCACCCTTTTTT[-/T]CCCTGAAAGTTTGGGAATGACTCTT 131704232 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__33291748_10 SLC22A4 OCTN1|MGC34546|MGC40524 C/G V411V MIM:604190|PharmGKB:PA332 rs17852518 hCV33291748 Silent Mutation solute carrier family 22 (organic cation transporter), member 4 NM_003059 CAGTACTGTTCTGGGGAGGAGGTGT[C/G]CTTCTCTTCATTCAACTGGTACCTG 131698496 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__33291755_10 SLC22A4 OCTN1|MGC34546|MGC40524 -/C MIM:604190|PharmGKB:PA332 hCV33291755 Frame Shift InDel solute carrier family 22 (organic cation transporter), member 4 NM_003059 TTTTGGTTACAGGAGCTAAATCCCC[-/C]TGAAGCAGCAGAAAGCTTTCATTCT 131695361 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__33321349_10 FMO1 C/G H97Q MIM:136130 hCV33321349 Mis-sense Mutation flavin containing monooxygenase 1 NM_002021 AATATCTCAAAATGTATGCAAACCA[C/G]TTTGACCTTCTGAAACACATTCAAT 169503464 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 .02 0 0 Homo sapiens C__33321358_10 FMO1 A/G Q223R MIM:136130 rs16864310 hCV33321358 Mis-sense Mutation flavin containing monooxygenase 1 NM_002021 ACCGGAGGGGGATGGGTGATCAGCC[A/G]AATCTTTGACTCGGGCTACCCATGG 169516589 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 0 0 0 .01 Homo sapiens C__33321383_10 FMO3 FMOII|MGC34400|dJ127D3.1 -/T | MIM:136132 hCV33321383 Frame Shift InDel|Frame Shift InDel flavin containing monooxygenase 3 NM_001002294|NM_006894 AATTCGGGCTGTGATATTGCCACAG[-/T]AACTCAGCCGCACAGCAGAACAGGT 169343964 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 0 0 0 Homo sapiens C__33321403_10 FMO4 FMO2 C/T T37I MIM:136131 hCV33321403 Mis-sense Mutation flavin containing monooxygenase 4 NM_002022 ACCTGCTTTGAGAGAAGTGATGACA[C/T]TGGGGGATTATGGAAGTTTACTGTA 169555698 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 0 0 0 Homo sapiens C__33321419_10 FMO4 FMO2 -/G MIM:136131 hCV33321419 Frame Shift InDel flavin containing monooxygenase 4 NM_002022 AAATTTGACTACATTGCCTACATGG[-/G]ATGATATCGCTGCCTGCATAGGCAC 169577229 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 0 0 0 0 Homo sapiens C__33346211_10 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 -/G | MIM:274180|PharmGKB:PA349 hCV33346211 Frame Shift InDel|Frame Shift InDel thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 ATTTTTTATTCCTCCCAGGTACTAT[-/G]CTTGGTCGTCGGATGTTTATTGTTA 139257500 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 0 0 0 0 Homo sapiens C__33385124_20 ALDH3B2 ALDH8 A/G R276W|R276W MIM:601917 rs17856219 hCV33385124 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member B2 NM_000695|NM_001031615 TACAGGGCCAGGGGCTTCTCCTGCC[A/G]GTTGATGAACTTGATGGCCTCGTCC 67188490 NCBI Build 36.2 Human 11q1,11q13,11q13.2a,11q13.2,11q 11 .13 .09 .06 .15 Homo sapiens C__33420481_20 GSTA1 GST2|GTH1|GSTA1-1|MGC131939 A/G S189S MIM:138359|PharmGKB:PA29016 rs1131965 hCV33420481 Silent Mutation glutathione S-transferase A1 NM_145740 GAAACTTCTTCACTGTGGGCAGGTT[A/G]CTGATTCTGGTTTTCAGGGCCTGTA 52764717 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 0 0 0 0 Homo sapiens C__33420496_20 GSTA1 GST2|GTH1|GSTA1-1|MGC131939 A/G H143H MIM:138359|PharmGKB:PA29016 hCV33420496 Silent Mutation glutathione S-transferase A1 NM_145740 TGTTGCCAACAAGGTAGTCTTGTCC[A/G]TGGCTCTTTAAGACCTGGAGAATGG 52765730 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 0 0 0 0 Homo sapiens C__33421496_30 GSTA3 MGC22232|RP1-214M20.2|GSTA3-3|GTA3 -/G MIM:605449 hCV33421496 Frame Shift InDel glutathione S-transferase A3 NM_000847 AGCTTCACCTACTTTTTCGAAGGCA[-/G]GGGAAATAGCGACTTTTTGTTTTCT 52872704 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 0 0 0 0 Homo sapiens C__30634043_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T || MIM:171060|PharmGKB:PA268 rs8187801 hCV30634043 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 TAGCATTGCTTTAAAAGCCATTGAC[C/T]GCAGTCTTCTGGTGAGGATCTCGCC 86887281 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 .09 0 0 Homo sapiens C__30634044_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T || MIM:171060|PharmGKB:PA268 rs8187806 hCV30634044 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 ATGAACTGGCATGTCCTAGAGCCAC[C/T]GCACCAAATACAATTGCAGAAAACA 86876617 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 0 0 Homo sapiens C__30634045_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || MIM:171060|PharmGKB:PA268 rs8187808 hCV30634045 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 GGGTGGGATAGTTGAACACGACTTC[A/G]TTAAATGTTATATTTCCTTCAAATT 86875457 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 0 0 Homo sapiens C__30634046_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || MIM:171060|PharmGKB:PA268 rs8187807 hCV30634046 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 GGCTCAGCCCCTGAAGCACTGGCAC[A/G]TTTGCTCGGGTGGGATAGTTGAACA 86875424 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 .01 0 Homo sapiens C__30634050_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || MIM:171060|PharmGKB:PA268 rs4148805 hCV30634050 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 TATGTAATTCTTGACTCAGTCATTG[A/G]ATCTATAAAATAAGGGTGTTATTAG 86944301 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .16 .29 .22 .27 Homo sapiens C__30634051_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || MIM:171060|PharmGKB:PA268 rs4148806 hCV30634051 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 TTCTCAGAGAACCTTAAAGCAGAGC[A/G]TGGTATAAGTAGAGATGCTGGGTGG 86944201 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 .05 0 Homo sapiens C__30634052_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 G/A || MIM:171060|PharmGKB:PA268 rs4148807 hCV30634052 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 CTTCTGTCTGTATTGAATTGTCTCT[G/A]CTCCTACCACCTATTTGAGTATGAC 86943748 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .15 .3 .24 .27 Homo sapiens C__30634053_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T || MIM:171060|PharmGKB:PA268 rs4148808 hCV30634053 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 ACTGCTCTCATCTAAGACTTCTGTC[C/T]GTATTGAATTGTCTCTGCTCCTACC 86943731 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .15 .31 .23 .26 Homo sapiens C__30634054_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || MIM:171060|PharmGKB:PA268 rs8187785 hCV30634054 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 CCGCCTCAAGATCCATCTCAGCCTG[A/G]GGAGAAACCACAGCCTCAGAACCAA 86942727 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 .04 0 0 Homo sapiens C__30634055_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/G || MIM:171060|PharmGKB:PA268 rs8187788 hCV30634055 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 ATCTCTCCAAATACTATCATCATGA[C/G]GGGGAGACCTGATCCGTGAGCTATG 86930079 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 0 0 Homo sapiens C__30633859_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*3F,g.31551T>C A/G T488I MIM:605325|PharmGKB:PA131 rs28365085 hCV30633859 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 ATCTCTTGAATCCACCTTTAGAACA[A/G]TGGGTTTTTCTGGTTGAAGAAGTCC 99083910 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 .01 0 Homo sapiens C__30633861_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*10,g.29753T>C A/G S446F MIM:605325|PharmGKB:PA131 hCV30633861 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 AGCAAGTTTCATGTTCATGAGAGCA[A/G]ACCTCATGCCAATGCAGTTTCTGGG 99085708 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30633862_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*2,g.27289C>A G/T N398T MIM:605325|PharmGKB:PA131 rs28365083 hCV30633862 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 CTTTGGGTCATGGTGAAGAGCATAA[G/T]TTGGAATCACCACCATTGACCCTTT 99088172 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 .01 0 Homo sapiens C__30633863_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*9,g.19386G>A C/T T337A MIM:605325|PharmGKB:PA131 rs28383479 hCV30633863 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 CCCCTCACCTTATTGGGCAAAACTG[C/T]ATCAATCTCCTTTTGCAGTTTCTGC 99096075 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30633864_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*4,g.14665A>G C/T Q200R MIM:605325|PharmGKB:PA131 hCV30633864 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 CTTAGTGCTCTCCACAAAGGGGTCT[C/T]GTGGATTGTTGAGAGAGTCGATGTT 99100796 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30633867_20 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*3G,g.12952T>C|CYP3A5*5,g.12952T>C A/G MIM:605325|PharmGKB:PA131 hCV30633867 Donor Splice Site cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 TAATTAAGACTCATCTTATTTTCAT[A/G]CCTCCTTGAGTTTTCCGCTGGTGAA 99102509 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 .01 Homo sapiens C__30633869_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5,g.7303C>A G/T Y100S MIM:605325|PharmGKB:PA131 hCV30633869 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 GCTTACCCTTCGATTTGTGAAGACA[G/T]AATAACATTCTTTCACTAGCACTGT 99108158 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30633872_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*8,g.3699C>T A/G R28C MIM:605325|PharmGKB:PA131 hCV30633872 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 AGTCTCTTAAAAAGTCCATGTGTAC[A/G]GGTCCCATATCTACAAAGTGAAACA 99111757 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30633874_10 CYP3A7 CP37|P450-HFLA CYP3A7*1E,c.-49G>A|CYP3A7*1E,g.-49G>A C/T MIM:605340|PharmGKB:PA122 rs28451617 hCV30633874 UTR 5 cytochrome P450, family 3, subfamily A, polypeptide 7 NM_000765 CTCCTCTGAGTCTTTTTTTCAGCAG[C/T]GTGCTGCTGTTTGCTGGGCTGTGTG 99170701 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 .07 0 0 Homo sapiens C__30633876_10 CYP3A43 MGC119315|MGC119316 C/T L114L|L114L|L114L MIM:606534 rs4646474 hCV30633876 Silent Mutation|Silent Mutation|Silent Mutation cytochrome P450, family 3, subfamily A, polypeptide 43 NM_022820|NM_057095|NM_057096 CAAGCCTTTAGGTCCAATGGGATTT[C/T]TGAAAAGTGCCTTAAGTTTTGCTGA 99283068 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 .01 0 Homo sapiens C__30633882_10 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/G MIM:124080|PharmGKB:PA134 rs4546 hCV30633882 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 GCACCTTCTTCTTCAGGGCCTGGGA[A/G]AAGTCCCTGGCCACTGCATCCACCA 143993555 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 .46 .32 .3 .31 Homo sapiens C__30633885_10 CHST3 C6ST|C6ST1 C/T MIM:603799 rs4148943 hCV30633885 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 AGTGCCTGGAATTCCTCCTTAGGGC[C/T]CTGGGAAGAGTATTGCTTAACGCAG 73439513 NCBI Build 36.2 Human 10q2,10q22.1,10q22,10q22.1e,10q 10 .49 .36 .17 .07 Homo sapiens C__30633887_10 CHST3 C6ST|C6ST1 C/T MIM:603799 rs4148945 hCV30633887 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 TTATGGCTTGGTGTCTTTCTTGTTT[C/T]ATGGCTGTGTTTTTGCTTTTGTTTC 73439596 NCBI Build 36.2 Human 10q2,10q22.1,10q22,10q22.1e,10q 10 .49 .11 .13 .07 Homo sapiens C__30633889_10 CHST3 C6ST|C6ST1 A/G MIM:603799 rs4148950 hCV30633889 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 GAAGACCAGATGTGCATAGAAGCCA[A/G]TCTCTGTCACATACACCGCAGGTGG 73441712 NCBI Build 36.2 Human 10q2,10q22.1,10q22,10q22.1e,10q 10 .49 .26 .13 .07 Homo sapiens C__30634037_10 EPHX1 MEH|EPHX|EPOX C/G S450S MIM:132810|PharmGKB:PA27829 rs4149230 hCV30634037 Silent Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 CCCAGGACATCCGCAAGTTCCTGTC[C/G]GTGCTGGAGCGGCAATGACCCACCC 224099653 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.12,1q42.12c,1q 1 .09 .02 .14 .13 Homo sapiens C__30634038_10 EPHX1 MEH|EPHX|EPOX A/C MIM:132810|PharmGKB:PA27829 rs4653695 hCV30634038 UTR 3 epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 CTCCCCCCGCCTGCCACCTCCCCCC[A/C]CAAGTGCCCTCCAGGCTTTTCTTGG 224099706 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.12,1q42.12c,1q 1 0 0 0 0 Homo sapiens C__30634039_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T || MIM:171060|PharmGKB:PA268 rs8187795 hCV30634039 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 CATAGAGCCTCTGTATCAGCTGGAC[C/T]GTTGTGCTCTTCCCACAGCCACTAC 86910613 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 0 0 Homo sapiens C__30634040_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/G || MIM:171060|PharmGKB:PA268 rs8187797 hCV30634040 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 GCCCACCACTCAGCTGGGCCCCTCT[C/G]TCTCCAACCAGGGTGTCAAATTTCT 86907066 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 .07 0 0 Homo sapiens C__30634042_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/G || MIM:171060|PharmGKB:PA268 rs8187802 hCV30634042 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 TGAGGATCTCGCCAGCTTTCCCAAA[C/G]GTGAAACCCTGGTTGAGAAAAAAGG 86887319 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 .02 0 0 Homo sapiens C__30633938_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 CYP5A1*9,c.1397G>A A/G Q466R| MIM:274180|PharmGKB:PA349 hCV30633938 Mis-sense Mutation|Intron thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 ACGGCTGAGGCCCGGCAGCAGCACC[A/G]GCCCTTCACGTACCTGCCCTTCGGG 139363969 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 0 0 0 0 Homo sapiens C__30633941_10 AHR A/G MIM:600253 rs7796976 hCV30633941 UTR 5 aryl hydrocarbon receptor NM_001621 CGCAGGCGGGAAGCACCCTGGATTT[A/G]GGAAGTCCCGGGAGCAGCGCGGCGG 17304955 NCBI Build 36.2 Human 7p2,7p21,7p21.1,7p21.1b,7p 7 .18 .07 .31 .32 Homo sapiens C__30633942_10 AHR A/C MIM:600253 rs4987097 hCV30633942 UTR 3 aryl hydrocarbon receptor NM_001621 GTCACAGTAAAAATAAAATACTTTG[A/C]GTTTTGAGCTACTGGATTCTTATTA 17349586 NCBI Build 36.2 Human 7p2,7p21,7p21.1,7p21.1b,7p 7 .05 .01 0 0 Homo sapiens C__30633943_10 SLC29A2 ENT2|DER12|HNP36 C/T V411V MIM:602110|PharmGKB:PA191 rs8187659 hCV30633943 Silent Mutation solute carrier family 29 (nucleoside transporters), member 2 NM_001532 TGGGCGCCAGGCACATGGTGAGGGA[C/T]ACCAGGTAGCCATTAGAAACGGCAA 65888298 NCBI Build 36.2 Human 11q1,11q13.1,11q13,11q13.1e,11q 11 0 0 0 0 Homo sapiens C__30633944_10 SLC29A2 ENT2|DER12|HNP36 C/T E265E MIM:602110|PharmGKB:PA191 rs8187657 hCV30633944 Silent Mutation solute carrier family 29 (nucleoside transporters), member 2 NM_001532 CATCTGGCTCTGATTCCGGCTCCTT[C/T]TCCAGGTCAAGATCCAGGGTCAGAG 65890550 NCBI Build 36.2 Human 11q1,11q13.1,11q13,11q13.1e,11q 11 0 0 0 0 Homo sapiens C__30633945_10 SLC29A2 ENT2|DER12|HNP36 C/T T96T MIM:602110|PharmGKB:PA191 rs8187647 hCV30633945 Silent Mutation solute carrier family 29 (nucleoside transporters), member 2 NM_001532 CCAGCAGGCTGCCCAGAATGCGCAC[C/T]GTCTCCGGGACGCTGCTCAGAAGCA 65893234 NCBI Build 36.2 Human 11q1,11q13.1,11q13,11q13.1e,11q 11 0 .02 0 0 Homo sapiens C__30633947_10 SLC29A2 ENT2|DER12|HNP36 G/T K68N PharmGKB:PA191|MIM:602110 rs8187644 hCV30633947 Mis-sense Mutation solute carrier family 29 (nucleoside transporters), member 2 NM_001532 GCTGGGACAGCAGCGTCACCCAATT[G/T]TTGAAGTTGAAGGCATCCTCGGGAC 65893487 NCBI Build 36.2 Human 11q1,11q13.1,11q13,11q13.1e,11q 11 0 0 0 0 Homo sapiens C__30633949_10 SLC29A2 ENT2|DER12|HNP36 G/C G47G MIM:602110|PharmGKB:PA191 rs8187646 hCV30633949 Silent Mutation solute carrier family 29 (nucleoside transporters), member 2 NM_001532 TGCTCAGGATCCTGGCTGTGCTGTT[G/C]CCGGCCCCGGCCAGTCGCGCCTGGA 65893550 NCBI Build 36.2 Human 11q1,11q13.1,11q13,11q13.1e,11q 11 0 .01 0 0 Homo sapiens C__30633952_10 GSTA1 GST2|GTH1|GSTA1-1|MGC131939 A/G S173S MIM:138359|PharmGKB:PA29016 rs1051874 hCV30633952 Silent Mutation glutathione S-transferase A1 NM_145740 TCAGCAGAGGGAAGCTGGAGATAAG[A/G]CTGGAGTCAAGCTCCTCGACGTAGT 52765640 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 0 0 0 0 Homo sapiens C__30633958_10 GSTA4 GTA4|GSTA4-4|DKFZp686D21185|RP1-214M20.1 C/T T163A MIM:605450 rs4147617 hCV30633958 Mis-sense Mutation glutathione S-transferase A4 NM_001512 ATTTTCTCTTCTAGAGCTAAAATGG[C/T]TTGGAGTAAAATCACATCTGCAAGG 52955390 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 0 0 .02 0 Homo sapiens C__30633960_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T MIM:605250|PharmGKB:PA397 rs4148551 hCV30633960 UTR 3 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 ACAACAACAAAAACCTGTGACAACT[C/T]TGTCCTACTCCTTTAAAAATGAGCT 94471519 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 .42 .43 .47 .45 Homo sapiens C__30633961_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/C G171C MIM:605250|PharmGKB:PA397 rs4148460 hCV30633961 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 CTTACCTTCCGATAAATCATATGGC[A/C]CATGGCTACTCGTAACCTCATCCCA 94684885 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 0 0 0 Homo sapiens C__30633964_10 SLC15A1 PEPT1|HPECT1|HPEPT1 A/G MIM:600544|PharmGKB:PA323 rs3737087 hCV30633964 solute carrier family 15 (oligopeptide transporter), member 1 NM_005073 GCAAACTTCCAGCATTAATAGCCAA[A/G]TAAAAGATGGAAAAAAATCTGTTTC 98171805 NCBI Build 36.2 Human 13q3,13q32,13q32.3a,13q32.3,13q 13 0 0 0 0 Homo sapiens C__30633966_10 SLC15A1 PEPT1|HPECT1|HPEPT1 A/T MIM:600544|PharmGKB:PA323 rs8187817 hCV30633966 solute carrier family 15 (oligopeptide transporter), member 1 NM_005073 GTTACCTCGCATTCCATAGTAGGAA[A/T]ATCTTTCGCAAAACTCATTGACCAC 98176643 NCBI Build 36.2 Human 13q3,13q32,13q32.3a,13q32.3,13q 13 0 0 0 0 Homo sapiens C__30633967_10 SLC15A1 PEPT1|HPECT1|HPEPT1 C/T MIM:600544|PharmGKB:PA323 rs8187818 hCV30633967 solute carrier family 15 (oligopeptide transporter), member 1 NM_005073 GAAAATCTTTCGCAAAACTCATTGA[C/T]CACGATGAAGAAGATGCTCAGGGGA 98176665 NCBI Build 36.2 Human 13q3,13q32,13q32.3a,13q32.3,13q 13 0 .01 0 0 Homo sapiens C__30633968_10 SLC15A1 PEPT1|HPECT1|HPEPT1 C/G MIM:600544|PharmGKB:PA323 rs8187819 hCV30633968 solute carrier family 15 (oligopeptide transporter), member 1 NM_005073 ACAAGCACAGGATTGAAATACACCC[C/G]CCACTGGTCCATAGCCACAAAGGAG 98176744 NCBI Build 36.2 Human 13q,13q32.3,13q32.3a,13q32,13q3 13 0 .01 0 0 Homo sapiens C__30633970_10 CYP4F8 CPF8|CYPIVF8 C/T rs4646532 hCV30633970 cytochrome P450, family 4, subfamily F, polypeptide 8 NM_007253 CCAGGACGTGGTGCTCCCAGACAGC[C/T]GAGTCATCCCCAAAGGTGCCCTCCA 15600230 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 0 0 0 0 Homo sapiens C__30633976_10 GSTM4 GTM4|GSTM4-4|MGC9247|MGC131945 C/T T4I|T4I MIM:138333 rs3191485 hCV30633976 Mis-sense Mutation|Mis-sense Mutation glutathione S-transferase M4 NM_000850|NM_147148 ACACCAACCAGCATCATGTCCATGA[C/T]ACTGGGGTACTGGGACATCCGCGGG 110000545 NCBI Build 36.2 Human 1p13,1p1,1p13.3,1p13.3b,1p 1 0 0 0 0 Homo sapiens C__30634336_10 CYP1A1 AHH|AHRR|CP11|CYP1|P1-450|P450-C|P450DX CYP1A1*1B,g.-3219C>T A/G MIM:108330 rs35686934 hCV30634336 cytochrome P450, family 1, subfamily A, polypeptide 1 NM_000499 CGGCAGGCGGGGGCGGGGCTGCCCC[A/G]TGGTGACCTCCTTCCCGGGGTTACT 72805383 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 .03 0 0 0 Homo sapiens C__30689135_20 UGT2B7 UGT2B9 UGT2B7*1d,g.372A>G|UGT2B7*1k,g.372A>G|UGT2B7*3,g.372A>G A/G R124R MIM:600068|PharmGKB:PA361 rs28365063 hCV30689135 Silent Mutation UDP glucuronosyltransferase 2 family, polypeptide B7 NM_001074 TGTCAATATTTGGTGACATAACTAG[A/G]AAGTTCTGTAAAGATGTAGTTTCAA 69997199 NCBI Build 36.2 Human 4q1,4q13,4q13.2,4q13.2c,4q 4 .18 .09 .15 .21 Homo sapiens C__30724269_10 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 C/G |H285Q MIM:605251 rs11708427 hCV30724269 |Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 5 NM_001023587|NM_005688 CAACGGCTGCTGCCTCAAACATTCT[C/G]TGCCCATCGTTGGAGCAAATGTTGA 185183077 NCBI Build 36.2 Human 3q2,3q27,3q27.1,3q27.1b,3q 3 0 0 0 0 Homo sapiens C__30747433_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/G || MIM:603065|PharmGKB:PA378 rs12721599 hCV30747433 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 TTAGACAAAGCGGATATTTGCCACT[C/G]TCTTCCCCTTTTCCTGTGTTTTTGT 120983391 NCBI Build 36.2 Human 3q1,3q13,3q13.3,3q13.33a,3q13.33,3q 3 0 0 0 0 Homo sapiens C__30747434_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G || MIM:603065|PharmGKB:PA378 rs12721609 hCV30747434 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 AAATGCACTCAGAATTACTTAGACA[A/G]AGCGGATATTTGCCACTCTCTTCCC 120983373 NCBI Build 36.2 Human 3q,3q13.33,3q13.33a,3q13.3,3q13,3q1 3 0 0 0 0 Homo sapiens C__30747435_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/G || MIM:603065|PharmGKB:PA378 rs12721614 hCV30747435 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 GAGCCCTCAGCTGGTCCATCCTCCC[C/G]ACTCCTGGTCAGCCTTCTGTTCTGA 120983062 NCBI Build 36.2 Human 3q1,3q13,3q13.3,3q13.33a,3q13.33,3q 3 0 0 0 0 Homo sapiens C__30747436_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G || MIM:603065|PharmGKB:PA378 rs12721602 hCV30747436 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 CCTTGGGAAGTGCAAATTGGATAGA[A/G]AAGAAACCAATTAAAAACAAAACAA 120982546 NCBI Build 36.2 Human 3q,3q13.33,3q13.33a,3q13.3,3q13,3q1 3 0 .02 0 0 Homo sapiens C__30787280_10 AOX1 AO|AOH1 A/G K1003K MIM:602841|PharmGKB:PA24842 rs13408225 hCV30787280 Silent Mutation aldehyde oxidase 1 NM_001159 AGTTCAATGCAGAGAATTATTGGAA[A/G]AAGAAAGGACTGGCCATGGTCCCCC 201224103 NCBI Build 36.2 Human 2q3,2q33.1,2q33,2q33.1e,2q 2 0 0 0 0 Homo sapiens C__30787292_10 AOX1 AO|AOH1 A/T I455I MIM:602841|PharmGKB:PA24842 rs13023698 hCV30787292 Silent Mutation aldehyde oxidase 1 NM_001159 TCTTTTTTGGAGAAGGGGATGGCAT[A/T]ATTAGAGAGTTATGCATCTCATATG 201185678 NCBI Build 36.2 Human 2q,2q33.1e,2q33,2q33.1,2q3 2 0 0 0 0 Homo sapiens C__30870446_10 CHST10 HNK1ST|HNK-1ST|MGC17148 A/T N225Y MIM:606376 rs12476171 hCV30870446 Mis-sense Mutation carbohydrate sulfotransferase 10 NM_004854 CGGGTCTCTGTCCGGTTCCTCCTGT[A/T]TTTTCTGATGATGCCAGGAGCAATC 100376537 NCBI Build 36.2 Human 2q11,2q1,2q11.2,2q11.2d,2q 2 0 0 0 0 Homo sapiens C__30871732_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 C/T Q648R MIM:605452 rs13402964 hCV30871732 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 CTGTGAAATGTCCTGCCCATCTATT[C/T]GGATGCAGCCAGAGCTGATGTCGTA 219785378 NCBI Build 36.2 Human 2q3,2q35,2q35f,2q 2 0 .01 0 0 Homo sapiens C__30871733_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 A/C V310F MIM:605452 rs13018099 hCV30871733 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 CCCCCCTGGAGGAACTTGAGGAAGA[A/C]GTAACTGGTAACAGTCCAGGCCAGA 219789372 NCBI Build 36.2 Human 2q3,2q35,2q35f,2q 2 0 0 .01 0 Homo sapiens C__30871734_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 C/G A303G MIM:605452 rs13018426 hCV30871734 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 GAAGACGTAACTGGTAACAGTCCAG[C/G]CCAGAGAGTTCCAAGGTGCCTTCTC 219789392 NCBI Build 36.2 Human 2q3,2q35,2q35f,2q 2 0 0 0 0 Homo sapiens C__30871735_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 G/T K300N MIM:605452 rs13018427 hCV30871735 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 AACTGGTAACAGTCCAGGCCAGAGA[G/T]TTCCAAGGTGCCTTCTCAGTCAGCA 219789400 NCBI Build 36.2 Human 2q3,2q35,2q35f,2q 2 0 0 0 0 Homo sapiens C__30871736_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 C/G L293V MIM:605452 rs13018440 hCV30871736 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 GAGTTCCAAGGTGCCTTCTCAGTCA[C/G]CAAGTTCACTGTGGAGGAAACGAGT 219789423 NCBI Build 36.2 Human 2q3,2q35,2q35f,2q 2 0 0 0 0 Homo sapiens C__30873817_10 CYP20A1 CYP-M|MGC22229 G/T rs13397243 hCV30873817 cytochrome P450, family 20, subfamily A, polypeptide 1 NM_177538 ATGGGCCTGTGGTCTCCTTCTGGTT[G/T]GGCAGGCGCCTCGTGGTTAGTTTGG 203819819 NCBI Build 36.2 Human 2q3,2q33,2q33.2,2q33.2a,2q 2 0 0 0 0 Homo sapiens C__30633860_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*3J,g.29782A>G C/T I456V MIM:605325|PharmGKB:PA131 hCV30633860 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 AAGGAGAAGTTCTGAAGGACTCTGA[C/T]TAGAGCAAGTTTCATGTTCATGAGA 99085679 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__34333461_10 GPX3 GPx-P|GSHPx-3|GSHPx-P -/G MIM:138321 hCV34333461 UTR 5 glutathione peroxidase 3 (plasma) NM_002084 GGCCGCGGATTGGTCACACCCGAGG[-/G]CTTGAAAGGTGGCTGGGAGCGCCGG 150380312 NCBI Build 36.2 Human 5q3,5q33,5q33.1,5q33.1d,5q 5 0 0 0 0 Homo sapiens C__34338627_10 ALDH1A1 ALDC|ALDH1|PUMB1|ALDH11|RALDH1|ALDH-E1|MGC2318 -/C MIM:100640 rs5898283 hCV34338627 Frame Shift InDel aldehyde dehydrogenase 1 family, member A1 NM_000689 ATCACGTCATCTAAAGATTTAAACT[-/C]TCATGATTTGCTGCACTGGTCCAAA 74714468 NCBI Build 36.2 Human 9q2,9q21.1,9q21,9q21.13,9q21.13a,9q 9 0 0 0 0 Homo sapiens C__34338667_10 ALDH1A1 ALDC|ALDH1|PUMB1|ALDH11|RALDH1|ALDH-E1|MGC2318 -/T MIM:100640 rs8187867 hCV34338667 UTR 5 aldehyde dehydrogenase 1 family, member A1 NM_000689 AGGATGACATTTCTGATTCGGCTCC[-/T]GGAACACAGGTGACTGGCTCAGCAA 74757752 NCBI Build 36.2 Human 9q2,9q21.1,9q21,9q21.13,9q21.13a,9q 9 0 0 0 0 Homo sapiens C__34275586_10 TPMT C/G R144G MIM:187680|PharmGKB:PA356 hCV34275586 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 CTATCCCAAATCATGTCAAATTTGC[C/G]AATATTTGTCCTACCAGAAAGAGAA 18247237 NCBI Build 36.2 Human 6p2,6p22.3,6p22,6p22.3d,6p 6 0 0 0 0 Homo sapiens C__34275587_10 TPMT G/T T141T MIM:187680|PharmGKB:PA356 rs16880276 hCV34275587 Silent Mutation thiopurine S-methyltransferase NM_000367 AAATCATGTCAAATTTGCCAATATT[G/T]GTCCTACCAGAAAGAGAAAAAACAT 18247244 NCBI Build 36.2 Human 6p2,6p22.3,6p22,6p22.3d,6p 6 0 0 0 0 Homo sapiens C__34275589_10 TPMT C/T Y132C MIM:187680|PharmGKB:PA356 hCV34275589 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 CCTGGGAAGATCAAAAATACTGCAA[C/T]AGTACAATGAAATGTTCCCCGAAGA 18247899 NCBI Build 36.2 Human 6p2,6p22.3,6p22,6p22.3d,6p 6 0 0 0 0 Homo sapiens C__34275608_20 TPMT A/T E28V MIM:187680|PharmGKB:PA356 hCV34275608 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 GCCGTTCACCCACTTGTCTTGCCAT[A/T]CTTCCAGAGTTAGTACTTGGTTTTT 18257255 NCBI Build 36.2 Human 6p2,6p22.3,6p22,6p22.3d,6p 6 0 0 0 0 Homo sapiens C__34275609_20 TPMT A/G L24L MIM:187680|PharmGKB:PA356 rs16880307 hCV34275609 Silent Mutation thiopurine S-methyltransferase NM_000367 TTGTCTTGCCATTCTTCCAGAGTTA[A/G]TACTTGGTTTTTCTGTACCTCAGTA 18257268 NCBI Build 36.2 Human 6p2,6p22.3,6p22,6p22.3d,6p 6 0 0 0 0 Homo sapiens C__34326242_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/G R406W MIM:609300 hCV34326242 Mis-sense Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 GGCATGAACTGATCCGGCTGGTGCC[A/G]CTCCTTCTCATTGTGATGCAGCGCC 104581282 NCBI Build 36.2 Human 10q2,10q24,10q24.3,10q24.32,10q24.32b,10q 10 0 0 0 0 Homo sapiens C__34328317_30 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 A/T L395L MIM:601130|PharmGKB:PA126 rs17847032 hCV34328317 Silent Mutation cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 TATTAATTTCCCTGACTTCTGTGCT[A/T]CATGACAACAAAGAATTTCCCAACC 96735815 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 0 0 0 0 Homo sapiens C__34328665_20 CYP2C19 CPCJ|CYP2C|CYP 2C|P450C2C|P450IIC19|RP11-400G3.4 -/G PharmGKB:PA124|MIM:124020 hCV34328665 Frame Shift InDel cytochrome P450, family 2, subfamily C, polypeptide 19 NM_000769 TTACTTAAAAACCTTGCTTTTATGG[-/G]AAAGTGATATTTTGGAGAAAGTAAA 96531647 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 0 0 0 0 Homo sapiens C__34329281_10 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 -/T MIM:601131 hCV34329281 Frame Shift InDel cytochrome P450, family 2, subfamily C, polypeptide 18 NM_000772 ATTTGATTATAAAGATCAGAGGTTT[-/T]CTTAACTTGATGGAAAAATTCAATG 96444765 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 0 0 0 0 Homo sapiens C__34329538_20 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 CYP2C9,g.3235G>A A/G V76V MIM:601130|PharmGKB:PA126 rs17847036 hCV34329538 Silent Mutation cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 ATTTTGGCCTGAAACCCATAGTGGT[A/G]CTGCATGGATATGAAGCAGTGAAGG 96691664 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 0 0 0 0 Homo sapiens C__34816058_20 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5,g.-4336G>A C/T MIM:605325|PharmGKB:PA131 hCV34816058 cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 TCACCCAGGCTGGAGTGTAATGGTG[C/T]GTCTCGGCTCACTGCAACCTCTGCC 99119791 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 .01 0 0 Homo sapiens C__34816059_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*1H,g.26206C>A G/T MIM:124010|PharmGKB:PA130 hCV34816059 UTR 3 cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 AGGAGGAGTTAATGGTGCTAACTGG[G/T]GGTGGTGGAAATAGTCCCGTGAGAA 99193426 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 .02 0 Homo sapiens C__34816060_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*1T,g.26013T>C A/G MIM:124010|PharmGKB:PA130 hCV34816060 UTR 3 cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 ATCTTCATTTCAGAGTTCTATTCAC[A/G]AAGTAATTTGAGGTCTCTGGTGTTC 99193619 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__34816061_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*1R,g.16775A>G C/T MIM:124010|PharmGKB:PA130 hCV34816061 Intron cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 AAACAAAAACAGAAAAAGAAATTCA[C/T]TGTGAATGTGCAAAATTTACCTGGA 99202857 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 .01 0 Homo sapiens C__34816064_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*1N,g.14200T>G A/C MIM:124010|PharmGKB:PA130 hCV34816064 Intron cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 AGGGACCATCTAAGCACAAAACACA[A/C]CACCACCCATAGTTAAATGTGCAGA 99205432 NCBI Build 36.2 Human 7q,7q22.1b,7q22.1,7q22,7q2 7 0 0 0 0 Homo sapiens C__34816065_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*1J,g.6077A>G C/T MIM:124010|PharmGKB:PA130 hCV34816065 Intron cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 TCATCATAGAAACAAGTCTATCCAA[C/T]GGAAGTTTCCAGAATACTCACCCCC 99213565 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__34816066_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*1M,g.-156C>A G/T MIM:124010|PharmGKB:PA130 hCV34816066 cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 TATGCTAGAGAAGGAGGCAGGGCTG[G/T]AGCTGCAGCCAGTAGCAGGGCCACC 99219796 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 .05 .02 Homo sapiens C__34816067_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*1E,g.-369T>A A/T MIM:124010|PharmGKB:PA130 hCV34816067 cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 AAACTCAAGTGGAGCCATTGGCATA[A/T]AATCTATTAAATCGCCTCTCTCCTG 99220009 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__34816068_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*1C,g.-444T>G A/C MIM:124010|PharmGKB:PA130 hCV34816068 cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 TTCCAAAATACTTGAAATTCATCCC[A/C]ACAAGCCACACCTACAGATCTTTAC 99220084 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__34816069_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*1L,g.-630A>G C/T PharmGKB:PA130|MIM:124010 rs28988569 hCV34816069 cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 TTTCCATCCCCTTCATGCAATCCTA[C/T]TGTCCTCTTTCCTCTTTACCACCAT 99220270 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__34816073_20 NAT2 AAC2 NAT2*6D,g.111T>C C/T MIM:243400|PharmGKB:PA18 hCV34816073 N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 AGCACCAGATCCGGGCTGTTCCCTT[C/T]GAGAACCTTAACATGCATTGTGGGC 18301904 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 0 0 0 0 Homo sapiens C__34407614_10 GPX4 MCSP|PHGPx|snGPx|snPHGPx C/T A88V|A125V|A88V MIM:138322 rs11555179 hCV34407614 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation glutathione peroxidase 4 (phospholipid hydroperoxidase) NM_001039847|NM_001039848|NM_002085 TACACTCAGCTCGTCGACCTGCACG[C/T]CCGATACGCTGAGTGTGGTTTGCGG 1056448 NCBI Build 36.2 Human 19p13,19p13.3,19p1,19p13.3i,19p 19 0 0 0 0 Homo sapiens C__34418787_40 UGT1A8 UDPGT|UGT1H UGT1A8*1b,c.765A>G A/G T255T MIM:606433|PharmGKB:PA37183 rs1042605 hCV34418787 Silent Mutation UDP glucuronosyltransferase 1 family, polypeptide A8 NM_019076 ACACATCAATTTGGTTGTTGCGAAC[A/G]GACTTTGTTTTGGACTATCCCAAAC 234191857 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 .16 .13 .03 .1 Homo sapiens C__34418788_20 UGT1A8 UDPGT|UGT1H UGT1A8*3,c.830G>A|UGT1A8*3,g.830G>A A/G Y277C MIM:606433|PharmGKB:PA37183 rs17863762 hCV34418788 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A8 NM_019076 ATGATCTTCATTGGTGGTATCAACT[A/G]CCATCAGGGAAAGCCATTGCCTATG 234191922 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C__34418864_30 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI A/G L252L MIM:606434|PharmGKB:PA419 rs17863776 hCV34418864 Silent Mutation UDP glucuronosyltransferase 1 family, polypeptide A9 NM_021027 TCTACAGCCACACATCAATTTGGTT[A/G]TTGCGAACGGACTTTGTTTTGGACT 234246075 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__34418890_10 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860 -/G | MIM:606431|PharmGKB:PA37181 hCV34418890 |Intron UDP glucuronosyltransferase 1 family, polypeptide A6 NM_001072|NM_205862 GCCTGCCTCCTTCGCTCATTTCAGA[-/G]GAATTTCTGCAGGGGTTTTCTTCTT 234266418 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__34418931_50 UGT1A4 UDPGT|UGT1D|HUG-BR2 A/G Q6R MIM:606429 hCV34418931 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A4 NM_007120 TCTGCTGAGATGGCCAGAGGACTCC[A/G]GGTTCCCCTGCCGCGGCTGGCCACA 234292222 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__34418934_40 UGT1A4 UDPGT|UGT1D|HUG-BR2 -/C F207 MIM:606429 hCV34418934 Frame Shift Delete UDP glucuronosyltransferase 1 family, polypeptide A4 NM_007120 CGACCAATTCAGACCACATGACATT[-/C]CTGCAAAGGGTCAAGAACATGCTCT 234292826 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__34418942_20 UGT1A3 UGT1C -/C P177 MIM:606428 hCV34418942 Frame Shift Delete UDP glucuronosyltransferase 1 family, polypeptide A3 NM_019093 TACTGTGTTTTTTTTGAGGAACATT[-/C]CATGTGATTTAGACTTTAAGGGCAC 234303040 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__34423927_10 POR DKFZp686G04235|CPR|CYPOR|P450R|FLJ26468 G/T D181Y MIM:124015|PharmGKB:PA33532 hCV34423927 Mis-sense Mutation P450 (cytochrome) oxidoreductase NM_000941 GGTGTTTGGTCTTGGGAACAAGACC[G/T]ACGAGCACTTCAATGCCATGGGCAA 75448326 NCBI Build 36.2 Human 7q1,7q11,7q11.2,7q11.23,7q11.23e,7q 7 0 0 0 0 Homo sapiens C__34423930_10 POR DKFZp686G04235|CPR|CYPOR|P450R|FLJ26468 A/G H457R MIM:124015|PharmGKB:PA33532 rs28931608 hCV34423930 Mis-sense Mutation P450 (cytochrome) oxidoreductase NM_000941 GAGCTGCTGCCGCGCCTGCAGGCCC[A/G]CTACTACTCCATCGCCTCATCCTCC 75452433 NCBI Build 36.2 Human 7q1,7q11,7q11.2,7q11.23,7q11.23e,7q 7 0 0 0 0 Homo sapiens C__34423931_10 POR DKFZp686G04235|CPR|CYPOR|P450R|FLJ26468 A/G Y569C MIM:124015|PharmGKB:PA33532 rs28931607 hCV34423931 Mis-sense Mutation P450 (cytochrome) oxidoreductase NM_000941 GGGGAGACGCTGCTGTACTACGGCT[A/G]CCGCCGCTCGGATGAGGACTACCTG 75453213 NCBI Build 36.2 Human 7q1,7q11,7q11.2,7q11.23,7q11.23e,7q 7 0 0 0 0 Homo sapiens C__34426572_10 SULT4A1 NST|BRSTL1|SULTX3|BR-STL-1|MGC40032|DJ388M5.3|hBR-STL-1 G/T S126S MIM:608359|PharmGKB:PA412 rs17852027 hCV34426572 Silent Mutation sulfotransferase family 4A, member 1 NM_014351 GGCAGAGGAGGTGCCAGCTTACCTT[G/T]GAGTCTCCATTGTGGAGGTCAGAGG 42567161 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2c,22q 22 0 0 0 0 Homo sapiens C__34446548_10 ARS2 ARS2|ASR2|MGC126427 C/T | rs7789085 hCV34446548 UTR 5|UTR 5 ARS2 protein NM_015908|NM_182800 CCCACTTTTGTTCGCCTCTCTTCGG[C/T]CCTCTACTCAAGAGCTCCGTCTCCG 100310762 NCBI Build 36.2 Human 7q,7q22.1c,7q22.1,7q22,7q2 7 .24 .11 .45 .33 Homo sapiens C__34453655_10 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G P207S|P207S MIM:107910 rs17853490 hCV34453655 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 GTGAAAATTTCAGTACCGTCCAAAG[A/G]GATCCTCAAGAAGAGCGTGTTAGAG 49301847 NCBI Build 36.2 Human 15q21,15q2,15q21.2,15q21.2b,15q 15 0 0 0 0 Homo sapiens C__34624738_10 CYP1A2 CP12|P3-450|P450(PA) C/T F205F MIM:124060|PharmGKB:PA27093 rs17861155 hCV34624738 Silent Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 CCAACGTCATTGGTGCCATGTGCTT[C/T]GGACAGCACTTCCCTGAGAGTAGCG 72829747 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 0 0 0 0 Homo sapiens C__34624739_40 CYP1A2 CP12|P3-450|P450(PA) C/T G102G MIM:124060|PharmGKB:PA27093 rs17861154 hCV34624739 Silent Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 TCCGGCAGGCCCTGGTGCGGCAGGG[C/T]GACGATTTCAAGGGCCGGCCTGACC 72829438 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 0 0 0 0 Homo sapiens C__34624742_10 CYP1A2 CP12|P3-450|P450(PA) CYP1A2,g.53C>G C/G S18C MIM:124060|PharmGKB:PA27093 rs17861152 hCV34624742 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 TCGGCCACAGAGCTTCTCCTGGCCT[C/G]TGCCATCTTCTGCCTGGTATTCTGG 72829185 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 0 0 0 0 Homo sapiens C__34816054_20 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5,g.13077T>G A/C MIM:605325|PharmGKB:PA131 hCV34816054 Intron cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 TGATGTCTTTTCTGTACATAAAGAT[A/C]AAAGACCATTTTTAGGAAGCTCGAA 99102384 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__34816055_10 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5,g.5215C>T A/G MIM:605325|PharmGKB:PA131 rs28365067 hCV34816055 Intron cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 AGTTGCGTCCAATGAAATCAGGCCT[A/G]CTATCTTTCACTGGCAGTTGAAGGA 99110246 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 .06 .01 .02 .03 Homo sapiens C__34816056_20 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5,g.-3557T>C A/G MIM:605325|PharmGKB:PA131 hCV34816056 cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 TCTATCTAGAAGGGTATGAATATAC[A/G]TGGATACATCCATTTTAATCTAATT 99119012 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__34816057_20 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5,g.-3844G>A C/T MIM:605325|PharmGKB:PA131 hCV34816057 cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 TTTTCTCTGCTTGCTTGGACTCCCA[C/T]ACACAGGCCGGGCTGTTTCTCCACG 99119299 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 .06 .16 .02 .03 Homo sapiens C__25760817_20 ALDH3A1 ALDH3|ALDHIII|MGC10406 C/T T198T MIM:100660 hCV25760817 Silent Mutation aldehyde dehydrogenase 3 family, memberA1 NM_000691 CAGGGGTCAGGTGCTTGGCAGCAGC[C/T]GTCATGATGATCTTCCCCACCCCCG 19586004 NCBI Build 36.2 Human 17p1,17p11.2,17p11,17p11.2d,17p 17 .01 .02 0 0 Homo sapiens C__25761003_20 SLC29A1 ENT1|MGC1465|MGC3778 A/G |||| MIM:602193|PharmGKB:PA154 rs8187630 hCV25761003 |||| solute carrier family 29 (nucleoside transporters), member 1 NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 TGCTGGGTCTGGGAACGCTGCTCCC[A/G]TGGAATTTTTTCATGACGGCCACTC 44305159 NCBI Build 36.2 Human 6p2,6p21,6p21.1,6p21.1b,6p 6 0 .01 0 0 Homo sapiens C__25761206_20 ALDH3A1 ALDH3|ALDHIII|MGC10406 A/G Y413Y MIM:100660 hCV25761206 Silent Mutation aldehyde dehydrogenase 3 family, memberA1 NM_000691 AAGTCTCGAAGCTCTTCTTGCCATG[A/G]TAGGATCCCATGCCGCTGTTCCCTG 19582336 NCBI Build 36.2 Human 17p1,17p11.2,17p11,17p11.2d,17p 17 0 .01 .15 .24 Homo sapiens C__25761435_20 ABCB10 M-ABC2|MTABC2|EST20237 C/T T179T MIM:605454 rs12080811 hCV25761435 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 10 NM_012089 CAGACATGGAGATAACACTGGACAT[C/T]GTGAGAAATCCAACCGCAGCTAGAA 227751785 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.13,1q42.13e,1q 1 0 .04 0 0 Homo sapiens C__15965722_20 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 A/G || MIM:601439|PharmGKB:PA396 rs2291550 hCV15965722 || ATP-binding cassette, sub-family C (CFTR/MRP), member 9 NM_005691|NM_020297|NM_020298 GATAAAAGAAAAAAGATCTACCTTC[A/G]TCTTCGTCCTCCATCTGGGCTTTGG 21892355 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 .01 0 Homo sapiens C__15966755_20 CYP1A1 AHH|AHRR|CP11|CYP1|P1-450|P450-C|P450DX C/G A463G MIM:108330 rs2278970 hCV15966755 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 1 NM_000499 CAGGAAGAGAAAGACCTCCCAGCGG[C/G]CAATGGTCTCACCGATACACTTCCG 72800034 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 0 0 0 0 Homo sapiens C__15968481_30 EPHX1 MEH|EPHX|EPOX C/T P284P MIM:132810|PharmGKB:PA27829 rs2292568 hCV15968481 Silent Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 AGAGGGATGTGGAGCTGCTGTACCC[C/T]GTCAAGGAGAAGGTATTCTACAGCC 224094282 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.12,1q42.12c,1q 1 .09 .05 .14 .13 Homo sapiens C__15968483_30 EPHX1 MEH|EPHX|EPOX A/G K119K MIM:132810|PharmGKB:PA27829 rs2292566 hCV15968483 Silent Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 ACAGATACCCTCACTTCAAGACTAA[A/G]ATTGAAGGTATGTTTGCAAAACGCC 224086276 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.12,1q42.12c,1q 1 .08 .18 .31 .3 Homo sapiens C__15970041_50 SULT1C4 SULT1C|SULT1C2|MGC34422|MGC149521 A/G S235S MIM:608357|PharmGKB:PA414 rs2293068 hCV15970041 Silent Mutation sulfotransferase family, cytosolic, 1C, member 4 NM_006588 TAGATAAAATTGTCCATTACACTTC[A/G]TTTGATGTCATGAAACAGAATCCAA 108369169 NCBI Build 36.2 Human 2q,2q12.3c,2q12.3,2q12,2q1 2 0 0 0 0 Homo sapiens C__15972945_10 ABCB8 MABC1|M-ABC1|EST328128 C/G MIM:605464 rs2303927 hCV15972945 ATP-binding cassette, sub-family B (MDR/TAP), member 8 NM_007188 ATCCGCTTTGGGAAGCTGGAAGCTT[C/G]CGATGAAGAGGTGTACACAGCCGCC 150370042 NCBI Build 36.2 Human 7q3,7q36.1,7q36,7q36.1d,7q 7 0 0 0 0 Homo sapiens C__15974722_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G P408P|P408P MIM:107910 rs2304461 hCV15974722 Silent Mutation|Silent Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 TTTCAAGAGTAAATTCATTGGGTTT[A/G]GGGAAAAACTCGAGTCTGTGCATCC 49291848 NCBI Build 36.2 Human 15q,15q21.2b,15q21.2,15q2,15q21 15 0 0 .05 0 Homo sapiens C__16013276_20 ABCC13 PRED6|C21orf73 A/G MIM:608835 rs2403768 hCV16013276 ATP-binding cassette, sub-family C (CFTR/MRP), member 13 ATTAACTTGATGTCAGCAACTCATG[A/G]ACTTGACAGCAAACCTCAATCTCCT 14593706 NCBI Build 36.2 Human 21q1,21q11,21q11.2,21q11.2c,21q 21 0 .08 .13 .14 Homo sapiens C__16017734_10 CYP1A2 CP12|P3-450|P450(PA) CYP1A2*1E,g.-739T>G|CYP1A2*1G,g.-739T>G|CYP1A2*1J,g.-739T>G|CYP1A2*1K,g.-739T>G|CYP1A2*1W,g.-739T>G G/T MIM:124060|PharmGKB:PA27093 rs2069526 hCV16017734 Intron cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 GGGGAGCCTGGGCTAGGTGTAGGGG[G/T]CCTGAGTTCCGGGCTTTGCTACCCA 72828394 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 .06 .13 .04 .14 Homo sapiens C__16026001_20 CYP2E1 CPE1|CYP2E|P450-J|P450C2E CYP2E1*1B,g.9896C>G G/C MIM:124040|PharmGKB:PA129 rs2070676 hCV16026001 Intron cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 CCTTCACTAAGCAACTCCTTCAACT[G/C]GAAATATACTATCCTATATAGCATA 135201127 NCBI Build 36.2 Human 10q2,10q26,10q26.3,10q26.3f,10q 10 .09 .41 .16 .18 Homo sapiens C__16026002_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E T/C F421F MIM:124040|PharmGKB:PA129 rs2515641 hCV16026002 Silent Mutation cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 ACTTCCTGAATGAAAATGGAAAGTT[T/C]AAGTACAGTGACTATTTCAAGCCAT 135201352 NCBI Build 36.2 Human 10q2,10q26,10q26.3,10q26.3f,10q 10 .09 .45 .16 .18 Homo sapiens C__16069074_20 ARS2 ARS2|ASR2|MGC126427 A/T V873V|V793V rs2733917 hCV16069074 Silent Mutation|Silent Mutation ARS2 protein NM_015908|NM_182800 GGGACCTGGATGCCCCAGACGATGT[A/T]GATTTCTTTTGAGCCGTCCCCCGTT 100324094 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1c,7q 7 0 0 0 0 Homo sapiens C__16075832_60 CYP1A1 AHH|AHRR|CP11|CYP1|P1-450|P450-C|P450DX G/T L381F MIM:108330 rs2856833 hCV16075832 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 1 NM_000499 ACCTGTGGGGGATGGTGAAGGGGAC[G/T]AAGGAAGAGTGTCGGAAGGTCTCCA 72800616 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 0 0 0 0 Homo sapiens C__16076333_10 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAQB-69D7.2 C/T V387V|V387V MIM:170261 rs2856992 hCV16076333 Silent Mutation|Silent Mutation transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) NM_000544|NM_018833 GCCCACAGCTCAGCATCAGCATCTG[C/T]ACCCCCAAGTGCAGCACCTGGAAGA 32908199 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32a,6p 6 .01 .04 0 0 Homo sapiens C__25750368_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha G/T rs35885925 hCV25750368 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 AGCAAATGTATGAAGAGATGCTTCA[G/T]ACTCAACACAGGTGATTATAGATTC 20733277 NCBI Build 36.2 Human 7p15,7p15.3,7p1,7p15.3d,7p 7 0 .07 0 0 Homo sapiens C__25751364_20 CHST1 C6ST|KS6ST|KSGal6ST A/G MIM:603797 hCV25751364 carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 NM_003654 GGTGCCGTATTTGTGCTTGCCCAGG[A/G]TGGGGTCGCCCCGCGTGTTGTTCTG 45628028 NCBI Build 36.2 Human 11p,11p11.2c,11p11,11p11.2,11p1 11 0 .01 0 0 Homo sapiens C__25751998_20 SLCO1B1 LST-1|OATP2|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G MIM:604843|PharmGKB:PA35842 rs11045859 hCV25751998 solute carrier organic anion transporter family, member 1B1 NM_006446 CCAAATTCTCATGTTTTACTGCTGT[A/G]ATGTCATTGTCCTTTTACCTATTAT 21246804 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 .13 0 0 Homo sapiens C__25752592_30 ALDH7A1 EPD|PDE|ATQ1 G/T N40T MIM:107323 hCV25752592 Mis-sense Mutation aldehyde dehydrogenase 7 family, member A1 NM_001182 TGGCTCGTTGTTAGCAGGGCAATAG[G/T]TCGTAATAACCTTAAAACAAAAGGA 125956985 NCBI Build 36.2 Human 5q2,5q23,5q23.2,5q23.2e,5q 5 0 .01 0 0 Homo sapiens C__25752871_20 CHST1 C6ST|KS6ST|KSGal6ST C/G MIM:603797 rs7115779 hCV25752871 carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 NM_003654 GCCCCCACCCGCACCGCCCGGGTCA[C/G]GAGAAGGGGCGGAAGTCCCGCTCCT 45627817 NCBI Build 36.2 Human 11p1,11p11.2,11p11,11p11.2c,11p 11 .01 0 0 0 Homo sapiens C__25753755_10 UGT2B15 UGT2B8 C/T MIM:600069|PharmGKB:PA37188 hCV25753755 UDP glucuronosyltransferase 2 family, polypeptide B15 NM_001076 ATAAATATCACAGTTGCCACGCAGG[C/T]CAGCAGGAATGCTATCACATCCAAA 69547536 NCBI Build 36.2 Human 4q1,4q13,4q13.2,4q13.2c,4q 4 .01 0 0 0 Homo sapiens C__25753932_20 CHST10 HNK1ST|HNK-1ST|MGC17148 C/T P310P MIM:606376 hCV25753932 Silent Mutation carbohydrate sulfotransferase 10 NM_004854 TGGTTCTGTTATACACGGTAATGCC[C/T]GGAGGGATAGTCGGGTATGACACCA 100376280 NCBI Build 36.2 Human 2q11,2q1,2q11.2,2q11.2d,2q 2 0 .07 0 0 Homo sapiens C__25754499_10 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 C/T P15S MIM:604988 hCV25754499 Mis-sense Mutation solute carrier organic anion transporter family, member 2B1 NM_007256 GCCAGCGGGTGAGGTACCCCAGGTA[C/T]CAGACAAGGAAACCAAAGCCACAAT 74551374 NCBI Build 36.2 Human 11q1,11q13,11q13.4,11q13.4c,11q 11 0 .01 0 0 Homo sapiens C__25754847_20 CHST2 C6ST A/C S464S MIM:603798 hCV25754847 Silent Mutation carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 NM_004267 TGAACATGACCAGTGGCTCGGGCTC[A/C]TCCTCCAAGCCTTTCGTGGTATCTG 144323740 NCBI Build 36.2 Human 3q2,3q23,3q23d,3q 3 0 0 0 0 Homo sapiens C__25755156_20 CHST10 HNK1ST|HNK-1ST|MGC17148 A/C V20L MIM:606376 rs35177621 hCV25755156 Mis-sense Mutation carbohydrate sulfotransferase 10 NM_004854 GTCAACGTGATGAACTTGCTAGCCA[A/C]CATGAACATGAAAATCACCCAAAAG 100389512 NCBI Build 36.2 Human 2q11,2q1,2q11.2,2q11.2d,2q 2 0 .03 0 0 Homo sapiens C__25756007_20 CHST10 HNK1ST|HNK-1ST|MGC17148 A/G P146S MIM:606376 hCV25756007 Mis-sense Mutation carbohydrate sulfotransferase 10 NM_004854 TTTTCGGGGATCTCCTCAATGGAAG[A/G]AAATGCTCCTGGGAAGTAAACGGAA 100378500 NCBI Build 36.2 Human 2q11,2q1,2q11.2,2q11.2d,2q 2 0 .1 0 0 Homo sapiens C__25759233_10 UGT1A10 UDPGT|UGT1J UGT1A10*1c,g.597T>C|UGT1A10*1d,g.597T>C|UGT1A10*4c,g.597T>C C/T D199D MIM:606435 hCV25759233 Silent Mutation UDP glucuronosyltransferase 1 family, polypeptide A10 NM_019075 CCAATGATCTCTTAGGGTTCTCAGA[C/T]GCCATGACTTTCAAGGAGAGAGTAT 234210504 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 .01 0 0 Homo sapiens C__25620773_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 A/T | MIM:603234 hCV25620773 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 CTGGCTGCAGGGCACAGGCTTCTAG[A/T]ACTCTCTCCAGCCAGGGTGGGTCCA 16183842 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 .01 .07 0 0 Homo sapiens C__25620776_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 A/G | MIM:603234 hCV25620776 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 GACAGGCTGGGGGTGGCCTCACCTC[A/G]ATGCTCACGAACCCCTCCACCTTTG 16184165 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 0 .06 0 0 Homo sapiens C__25620812_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 C/T | MIM:603234 hCV25620812 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 AGCTCCTGGCCTCGGATGCCCAGGA[C/T]TCTGTCCAGAAAGGCTCCCTCCCAG 16191617 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 .01 0 0 0 Homo sapiens C__25620824_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 A/G | MIM:603234 hCV25620824 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 GGAAGACAGCGATGGCAGTGAGGGC[A/G]GAGGGCCCCAGGAGCTGGGGATAGA 16194266 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 .01 0 0 0 Homo sapiens C__25620840_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 C/T | MIM:603234 hCV25620840 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 AGAGAACCACTCACCTTCTCTCCTG[C/T]GTGGATCTTGAAGGACACGCCCTGC 16159032 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 0 .09 0 0 Homo sapiens C__25620847_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 G/T | MIM:603234 hCV25620847 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 CTCCGTACCTGAAACCCAGCGTAGA[G/T]GAGAAACAGTGGCAGGATGGCCACA 16166998 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 0 .03 0 0 Homo sapiens C__25620999_10 ABCB5 ABCB5beta|EST422562|ABCB5alpha A/G rs17143304 hCV25620999 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 ACATTCCAGAAATACCTCGAAGAAA[A/G]CACAGATTATTGGAAGCTGTTATGC 20734479 NCBI Build 36.2 Human 7p15,7p15.3,7p1,7p15.3d,7p 7 .01 .19 0 0 Homo sapiens C__25621012_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha A/G hCV25621012 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 TGACCCTAAAGGATGGAATGCTGGC[A/G]GAGAAAGGAGCACATGCTGAACTAA 20687748 NCBI Build 36.2 Human 7p15,7p15.3,7p1,7p15.3d,7p 7 0 .01 0 0 Homo sapiens C__25621024_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha A/G hCV25621024 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 AGAGAGCAGCAAGGGAAGCAAATGC[A/G]TATGATTTTATCATGGAGTTTCCTA 20657744 NCBI Build 36.2 Human 7p15,7p15.3,7p1,7p15.3d,7p 7 .18 .02 0 .01 Homo sapiens C__25621025_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha C/T rs34603556 hCV25621025 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 GTTCATTCTTTGGATTGGCAGATCA[C/T]GGTGGATGAGAATGACATCAGAGCT 20657572 NCBI Build 36.2 Human 7p,7p15.3d,7p1,7p15.3,7p15 7 .26 .02 .05 .05 Homo sapiens C__25621039_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha A/G hCV25621039 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 CCTTTGTTTTTCCAAGAAACCCAGT[A/G]TAGATAACTTTTCCACAGCTGGATA 20654125 NCBI Build 36.2 Human 7p,7p15.3d,7p1,7p15.3,7p15 7 0 .01 0 0 Homo sapiens C__25621063_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha A/G hCV25621063 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 TTGGATGAGGCCACTTCAGCCCTCG[A/G]TAATGACAGTGAGAAGGTAACATCA 20759638 NCBI Build 36.2 Human 7p15,7p15.3,7p1,7p15.3d,7p 7 0 .14 0 0 Homo sapiens C__25621064_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha A/G hCV25621064 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 CAACAGCCGTGTGGTGCCATTAGAT[A/G]AGATCAAAGAAGCCGCAAATGCAGC 20751527 NCBI Build 36.2 Human 7p15,7p15.3,7p1,7p15.3d,7p 7 0 .02 0 0 Homo sapiens C__25621065_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha C/T hCV25621065 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 AATGTACAGTGGCTCCGTTCCCAAA[C/T]AGCAATCGTTCCTCAAGAGCCTGTG 20751435 NCBI Build 36.2 Human 7p15,7p15.3,7p1,7p15.3d,7p 7 0 .05 0 0 Homo sapiens C__25621077_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha A/G rs6461515 hCV25621077 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 TGCATATGGAGCTATGGCCATCGGA[A/G]AAACGCTCGTTTTGGCTCCTGAATA 20745171 NCBI Build 36.2 Human 7p15,7p15.3,7p1,7p15.3d,7p 7 .13 .29 .14 .22 Homo sapiens C__15853367_10 CYP4F2 CPF2 A/G H343H MIM:604426 rs2074900 hCV15853367 Silent Mutation cytochrome P450, family 4, subfamily F, polypeptide 2 NM_001082 CCTGGTATTCTGGGTGCTTTGCAAG[A/G]TGGTACAGGACCCAGGAGAGACCAC 15857820 NCBI Build 36.2 Human 19p13,19p1,19p13.1,19p13.12,19p13.12a,19p 19 .29 .27 .2 .17 Homo sapiens C__15854163_70 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CDw338|EST157481|MGC102821 G/T K141Q MIM:603756|PharmGKB:PA390 rs2231142 hCV15854163 Mis-sense Mutation ATP-binding cassette, sub-family G (WHITE), member 2 NM_004827 GCAAGCCGAAGAGCTGCTGAGAACT[G/T]TAAGTTTTCTCTCACCGTCAGAGTG 89271347 NCBI Build 36.2 Human 4q2,4q22,4q22.1,4q22.1b,4q 4 .09 .06 .33 .44 Homo sapiens C__15854169_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CDw338|EST157481|MGC102821 A/G Y123Y MIM:603756|PharmGKB:PA390 rs2231139 hCV15854169 Silent Mutation ATP-binding cassette, sub-family G (WHITE), member 2 NM_004827 ACCCACTAATACTTACTTGTACCAC[A/G]TAACCTGAATTACATTTGAAATTGG 89271988 NCBI Build 36.2 Human 4q2,4q22,4q22.1,4q22.1b,4q 4 0 .09 0 0 Homo sapiens C__15861355_20 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/G || MIM:171060|PharmGKB:PA268 rs2071645 hCV15861355 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 GGTCGCAGGATAAGACCGAGATCAG[C/G]CTGGAGCCTCGGGTGCCGAGAAAGC 86943212 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .19 .42 .24 .27 Homo sapiens C__15867697_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E CYP2E1*7C,g.-352A>G G/A MIM:124040|PharmGKB:PA129 rs2070672 hCV15867697 cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 TGTGGCTGGAGTTCCCCGTTGTCTA[G/A]CCAGTGCCAAAGGGCAGGACGGTAC 135190538 NCBI Build 36.2 Human 10q,10q26.3f,10q26.3,10q26,10q2 10 .03 .11 .23 .27 Homo sapiens C__15868110_30 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860 UGT1A6*2,c.541A>G|UGT1A6*2a,c.541A>G|UGT1A6*2a,g.541A>G|UGT1A6*2b,c.541A>G|UGT1A6*2b,g.541A>G|UGT1A6*2c,c.541A>G|UGT1A6*2c,g.541A>G|UGT1A6*2d,c.541A>G|UGT1A6*2d,g.541A>G|UGT1A6*2e,c.541A>G|UGT1A6*2e,g.541A>G|UGT1A6*5,c.541A>G|UGT1A6*5,g.541A>G|UGT1A6*6,c.541A>G|UGT1A6*6,g.541A>G|UGT1A6*7,c.541A>G|UGT1A6*7,g.541A>G|UGT1A6*8,c.541A>G|UGT1A6*8,g.541A>G A/G || MIM:606431|PharmGKB:PA37181 rs2070959 hCV15868110 ||Intron UDP glucuronosyltransferase 1 family, polypeptide A6 NM_001072|NM_007120|NM_205862 GGGTTTTCCGTGTTCCCTGGAGCAT[A/G]CATTCAGCAGAAGCCCAGACCCTGT 234266930 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 .4 .26 .2 .1 Homo sapiens C__15871221_70 CYP4F8 CPF8|CYPIVF8 A/T rs2072600 hCV15871221 cytochrome P450, family 4, subfamily F, polypeptide 8 NM_007253 ATTACAGACAAGGACATAGTCTTCT[A/T]CAAGACCCTGAAGCCCTGGCTGGGT 15591331 NCBI Build 36.2 Human 19p13,19p1,19p13.1,19p13.12,19p13.12a,19p 19 0 0 0 0 Homo sapiens C__15872728_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/G MIM:600409 rs2267669 hCV15872728 Intron peroxisome proliferator-activated receptor delta NM_006238 CTGTCTCCTCCTGGGTGATGTGGAC[A/G]TGGCATCACCACCCAGTAAGTTGTC 35486102 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 .18 .12 .17 .27 Homo sapiens C__15872729_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/G MIM:600409 rs2267668 hCV15872729 Intron peroxisome proliferator-activated receptor delta NM_006238 AGTTTGAGCTGTCGGTAAAATATCT[A/G]AGAGTTGGGGTCCCACAGATGCTTA 35485900 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 .19 .12 .17 .27 Homo sapiens C__15872730_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta C/G MIM:600409 rs2267667 hCV15872730 Intron peroxisome proliferator-activated receptor delta NM_006238 GGGCCCCAGGTGGCTTAGTTGCTCT[C/G]GCCCCAGACCAGGTCTCTCTAGAGC 35480502 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 .22 .37 .19 .31 Homo sapiens C__15872743_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/G MIM:600409 rs2267664 hCV15872743 Intron peroxisome proliferator-activated receptor delta NM_006238 GTGTCTGGATGTTTAACCTTACCAA[A/G]CAGAAGATTCTCGTCATATCCTTCA 35420232 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 .02 .02 .3 .41 Homo sapiens C__15876602_20 CYP1A2 CP12|P3-450|P450(PA) A/G K403K MIM:124060|PharmGKB:PA27093 rs2960193 hCV15876602 Silent Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 CGCTGAATGGCTTCTACATCCCCAA[A/G]AAATGCTGTGTCTTCGTAAACCAGT 72832620 NCBI Build 36.2 Human 15q,15q24.1b,15q24,15q24.1,15q2 15 0 0 0 0 Homo sapiens C__15877554_40 SLC22A1 OCT1|HOCT1|oct1_cds C/T P341L|P341L MIM:602607|PharmGKB:PA329 rs2282143 hCV15877554 Mis-sense Mutation|Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 1 NM_003057|NM_153187 TCATTTGCAGACCTGTTCCGCACGC[C/T]GCGCCTGAGGAAGCGCACCTTCATC 160477633 NCBI Build 36.2 Human 6q2,6q25,6q25.3,6q25.3f,6q 6 0 .1 .12 .16 Homo sapiens C__15881290_30 SLC22A8 OAT3|MGC24086 A/T T241T MIM:607581|PharmGKB:PA389 rs2276299 hCV15881290 Silent Mutation solute carrier family 22 (organic anion transporter), member 8 NM_004254 AGAAGACGAAGAAGGGAATGGACAC[A/T]GTTAACTGCAGCCAACGCCACTGGG 62523007 NCBI Build 36.2 Human 11q1,11q12,11q12.3,11q12.3b,11q 11 .11 .04 .23 .28 Homo sapiens C__15882283_30 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/C || MIM:603065|PharmGKB:PA378 rs2276705 hCV15882283 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 TTTACTTCAGTGGGAATCTCGGCCT[A/C]AGCCTGCAAGCCAAGTGTTCACAGT 120983664 NCBI Build 36.2 Human 3q1,3q13,3q13.3,3q13.33a,3q13.33,3q 3 0 0 .01 .01 Homo sapiens C__15883464_20 ABCC10 MRP7|SIMRP7|EST182763 C/T L671L rs2277122 hCV15883464 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 10 NM_033450 TGATGCACAGCTGTACAAGGAGGTG[C/T]TAGAAGCCTGCGCCCTCAATGATGA 43514479 NCBI Build 36.2 Human 6p2,6p21,6p21.1,6p21.1c,6p 6 .04 0 .06 .07 Homo sapiens C__15884802_30 SLC28A1 CNT1|HCNT1 C/G R130G|R130G MIM:606207|PharmGKB:PA387 rs2277577 hCV15884802 Mis-sense Mutation|Mis-sense Mutation solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 NM_004213|NM_201651 CTTCCTGGGCCACCGCCTGCTGAAA[C/G]GGCTTCTGGGGCCAAAGCTGAGGAG 83239285 NCBI Build 36.2 Human 15q2,15q25,15q25.3,15q25.3a,15q 15 0 0 0 0 Homo sapiens C__15884812_20 SLC28A1 CNT1|HCNT1 A/T | MIM:606207|PharmGKB:PA387 rs2277575 hCV15884812 Donor Splice Site|Donor Splice Site solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 NM_004213|NM_201651 CCGCCTGCTGCTCTGGTTTAAGAGG[A/T]GAGTGAGCTCACAGCCCCGAGGCAG 83239360 NCBI Build 36.2 Human 15q2,15q25,15q25.3,15q25.3a,15q 15 0 0 0 0 Homo sapiens C__15950964_20 ALDH1B1 ALDH5|ALDHX|MGC2230 G/T R107L MIM:100670 rs2073478 hCV15950964 Mis-sense Mutation aldehyde dehydrogenase 1 family, member B1 NM_000692 TCTGAGCGGGGCCGGCTGCTGAACC[G/T]CCTGGCAGACCTAGTGGAGCGGGAT 38386065 NCBI Build 36.2 Human 9p13,9p1,9p13.1,9p13.1b,9p 9 .39 .42 .24 .35 Homo sapiens C__25594335_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*17A,c.85C>A|CYP2B6*17A,g.85C>A|CYP2B6*17B,c.85C>A|CYP2B6*17B,g.85C>A A/C S29R MIM:123930|PharmGKB:PA123 rs33926104 hCV25594335 Mis-sense Mutation cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 TCAGCGCCACCCTAACACCCATGAC[A/C]GCCTCCCACCAGGGCCCCGCCCTCT 46189135 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 0 0 0 0 Homo sapiens C__25594634_60 SLC29A1 ENT1|MGC1465|MGC3778 A/C |||| MIM:602193|PharmGKB:PA154 rs8187637 hCV25594634 |||| solute carrier family 29 (nucleoside transporters), member 1 NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 TGCCTGCCTCCCTCCCTGTCTGCCT[A/C]CTGCCCCTTCCTTCTGCCAGGGGTG 44309289 NCBI Build 36.2 Human 6p2,6p21,6p21.1,6p21.1b,6p 6 0 0 0 0 Homo sapiens C__25596098_20 DPYD DHP|DPD|MGC70799|MGC132008 C/T MIM:274270|PharmGKB:PA145 hCV25596098 dihydropyrimidine dehydrogenase NM_000110 CATCTTGCTCTGTCCGAACAAACTG[C/T]ATAGCAACAATTCTCCCACCTTTTA 97812025 NCBI Build 36.2 Human 1p2,1p21,1p21.3,1p21.3b,1p 1 0 .06 0 0 Homo sapiens C__25596106_20 DPYD DHP|DPD|MGC70799|MGC132008 A/G MIM:274270|PharmGKB:PA145 hCV25596106 dihydropyrimidine dehydrogenase NM_000110 GATCTACTTCTGGGAGACCCCATCT[A/G]TTAAATTTTATAGGGCTCAAGGCTT 97787857 NCBI Build 36.2 Human 1p2,1p21,1p21.3,1p21.3b,1p 1 0 .01 0 0 Homo sapiens C__25596116_10 DPYD DHP|DPD|MGC70799|MGC132008 C/A MIM:274270|PharmGKB:PA145 hCV25596116 dihydropyrimidine dehydrogenase NM_000110 ACCTGAGACAGTGTTGGTGGCTGTA[C/A]CGCCATTGGCACCACCTATGCAAGA 97543507 NCBI Build 36.2 Human 1p2,1p21,1p21.3,1p21.3b,1p 1 0 .01 0 0 Homo sapiens C__25596127_20 DPYD DHP|DPD|MGC70799|MGC132008 C/T MIM:274270|PharmGKB:PA145 hCV25596127 dihydropyrimidine dehydrogenase NM_000110 AGCTATACGTGGAACTGGTTTCCCT[C/T]TCTGGTGACTCACAGTAGCTGGACT 97431253 NCBI Build 36.2 Human 1p2,1p21,1p21.3,1p21.3b,1p 1 .01 0 0 0 Homo sapiens C__25596309_10 GSTP1 PI|DFN7|GST3|FAEES3 C/T MIM:134660|PharmGKB:PA29028 rs8191448 hCV25596309 glutathione S-transferase pi NM_000852 AGCCATGCCTCCCCCAACAGCTATA[C/T]GGGCAGCTCCCCAAGTTCCAGGACG 67108737 NCBI Build 36.2 Human 11q1,11q13,11q13.2a,11q13.2,11q 11 0 .13 0 0 Homo sapiens C__25596310_20 ALDH3B2 ALDH8 A/C | MIM:601917 rs4646823 hCV25596310 UTR 5|UTR 5 aldehyde dehydrogenase 3 family, member B2 NM_000695|NM_001031615 GTGGTTCATCCTTCATCCAGGCCTG[A/C]AGGTTCTTGAGAGCGTAGTCAACCT 67190992 NCBI Build 36.2 Human 11q1,11q13,11q13.2a,11q13.2,11q 11 .13 .41 .07 .21 Homo sapiens C__25596335_20 ALDH3B2 ALDH8 C/T T366A|T366A MIM:601917 hCV25596335 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member B2 NM_000695|NM_001031615 CGTAACAGCTGCTGGTTCCAGTCGG[C/T]ATAGGGTGGGTAGTGGATCTCCTTT 67187324 NCBI Build 36.2 Human 11q1,11q13,11q13.2a,11q13.2,11q 11 0 .03 .06 .01 Homo sapiens C__25596962_30 SULT2A1 STD|hSTa|ST2A3|DHEA-ST|HST|ST2 C/T S2S MIM:125263|PharmGKB:PA346 rs11569685 hCV25596962 Silent Mutation sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 NM_003167 TGCCTTCAAACCATAAGAAATCGTC[C/T]GACATGATGATGACCTCTTCCTGCG 53081321 NCBI Build 36.2 Human 19q1,19q13,19q13.3,19q13.32,19q13.32c,19q 19 0 0 0 0 Homo sapiens C__25596963_20 SULT2A1 STD|hSTa|ST2A3|DHEA-ST|HST|ST2 A/G F30F MIM:125263|PharmGKB:PA346 rs11083907 hCV25596963 Silent Mutation sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 NM_003167 TTATTACATCTTCATCCCTTATCAC[A/G]AACTCATCACGTACTTTTCTTAAGG 53081237 NCBI Build 36.2 Human 19q,19q13.32c,19q13.32,19q13.3,19q13,19q1 19 0 .09 0 0 Homo sapiens C__25597083_20 FMO5 RP11-337C18.2 T/C K166E MIM:603957 hCV25597083 Mis-sense Mutation flavin containing monooxygenase 5 NM_001461 CTGTGGAAGTACTGCCCTTTGAACT[T/C]CTCAATTCCTGCAAGAGAAGGGAAA 145150719 NCBI Build 36.2 Human 1q21.1,1q21,1q2,1q21.1c,1q 1 .02 0 0 0 Homo sapiens C__25597089_20 FMO5 RP11-337C18.2 C/A R506S MIM:603957 rs28381223 hCV25597089 Mis-sense Mutation flavin containing monooxygenase 5 NM_001461 TCATTGTTGAAGTCATAGAACTACT[C/A]CTTTCAACTACTCTTGTCATCAGAG 145125187 NCBI Build 36.2 Human 1q21.1,1q21,1q2,1q21.1c,1q 1 0 0 0 0 Homo sapiens C__25598028_10 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 A/G I539I MIM:171050|PharmGKB:PA267 rs35633772 hCV25598028 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 TGCGAACCAGGGCACGTGCAATGGC[A/G]ATCCTCTGCTTCTGCCCACCACTCA 87016708 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .01 0 0 0 Homo sapiens C__25598038_20 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 A/G L884L MIM:171050|PharmGKB:PA267 rs9282563 hCV25598038 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 CCTTCTAGTTCTTTCTTATCTTTCA[A/G]TGCTTGTCCAGACAACATTTTCATT 86998581 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .01 0 0 0 Homo sapiens C__25598039_50 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 G/T E80A MIM:171050|PharmGKB:PA267 rs9282565 hCV25598039 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 CAGATCTTCTAAATTTCCTGCATTT[G/T]CAAAGATATCTGTCATTTCTCCAAA 87052811 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 0 0 Homo sapiens C__25598602_40 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|MGC45260 C/T H50R|H50R|H50R|H50R MIM:607582|PharmGKB:PA388 rs11568626 hCV25598602 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation solute carrier family 22 (organic anion transporter), member 6 NM_004790|NM_153276|NM_153277|NM_153278 GCTGAGGTTGGCATCGGCAGGCGGG[C/T]GGCAGTGGTGGGTAGGGATGGCAGC 62508590 NCBI Build 36.2 Human 11q1,11q12,11q12.3,11q12.3b,11q 11 0 .03 0 0 Homo sapiens C__26681694_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6*14,c.51G>A|CYP2A6*14,g.51G>A|CYP2A6*17,c.51A>G|CYP2A6*17,g.51A>G|CYP2A6*18B,c.51G>A|CYP2A6*18B,g.51G>A|CYP2A6*1B12,c.51G>A|CYP2A6*1B12,g.51G>A|CYP2A6*2,c.51G>A|CYP2A6*2,g.51G>A|CYP2A6*20,c.51G>A|CYP2A6*20,g.51G>A|CYP2A6*21,c.51G>A|CYP2A6*21,g.51G>A|CYP2A6*22,c.51G>A|CYP2A6*22,g.51G>A|CYP2A6*9,c.51A>G|CYP2A6*9,g.51A>G C/T V17V MIM:122720|PharmGKB:PA121 rs1137115 hCV26681694 Silent Mutation cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 GCTGCCAAACAGACATCAAGACCAT[C/T]ACAGTCAGGCAGACCAGCAAGGCCA 46048121 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .29 .28 .29 .17 Homo sapiens C__26823957_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*1K,g.-1972C>T C/T MIM:123930|PharmGKB:PA123 rs1962261 hCV26823957 cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 CATTGGACAATGTAGCCCCAACCCA[C/T]TGTATGACCTTGGGTAAGACTTGCA 46187079 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 0 .16 0 0 Homo sapiens C__26823958_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*1N,g.-1456T>C|CYP2B6*28,g.-1456T>C|CYP2B6*4D,g.-1456T>C|CYP2B6*6B,g.-1456T>C|CYP2B6*7B,g.-1456 T>C|CYP2B6*7B,g.-1456T>C|CYP2B6*9,g.-1456T>C C/T MIM:123930|PharmGKB:PA123 rs2054675 hCV26823958 cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 AGGATAGAGACATATGGGAGTCCAG[C/T]AGACATCAATCAAACTGGACTCAGT 46187595 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .17 .44 .17 .31 Homo sapiens C__26823967_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*1D,g.12917A>T|CYP2B6*4C,g.12917A>T A/T MIM:123930|PharmGKB:PA123 rs2279342 hCV26823967 Intron cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 TGGGGGGTGCATCAGGGAAGGGAGT[A/T]TATGGGAGGAAGAAGGACTCAGAGC 46201967 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .08 .07 .19 .18 Homo sapiens C__26823969_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*1C,g.14593C>G C/G MIM:123930|PharmGKB:PA123 rs4803418 hCV26823969 Intron cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 ATTGAGGCAGAGAAAATTAGAGAGA[C/G]AGACAGACAAAGCTTAGGAAAAGGT 46203643 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .32 .13 .49 .37 Homo sapiens C__26824089_20 CYP2A13 CPAD|CYP2A C/T P321L MIM:608055 rs3885816 hCV26824089 Mis-sense Mutation cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 GGTTTCCTGCTGCTCATGAAGCACC[C/T]AGAGGTGGAGGGTAAGACTGGAAAG 46291505 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__26824202_20 CYP2A7 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 A/C A153S|A102S MIM:608054 hCV26824202 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily A, polypeptide 7 NM_000764|NM_030589 CGGATGGCCTCGATGAGGAAGCCCG[A/C]CTCCTCCTGGATGCGCTCCTCGATG 46078260 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .47 .45 .41 .47 Homo sapiens C__26841917_40 NR3C1 GR|GCR|GRL|GCCR C/T |||||| MIM:138040|PharmGKB:PA181 rs6195 hCV26841917 |||||| nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 TCCAGATCCTTGGCACCTATTCCAA[C/T]TTTCGGAACCAACGGGAATTGGTGG 142759510 NCBI Build 36.2 Human 5q,5q31.3e,5q31.3,5q3,5q31 5 .06 0 0 0 Homo sapiens C__26841918_10 NR3C1 GR|GCR|GRL|GCCR C/T N365S|N365S|N365S|N365S|N365S|N365S|N365S MIM:138040|PharmGKB:PA181 rs1800445 hCV26841918 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 GTCATCTCCAGATCCTTGGCACCTA[C/T]TCCAATTTTCGGAACCAACGGGAAT 142759504 NCBI Build 36.2 Human 5q31,5q3,5q31.3,5q31.3e,5q 5 0 0 0 0 Homo sapiens C__26856791_20 PPARG NR1C3|PPARG1|PPARG2 C/G ||| MIM:601487|PharmGKB:PA281 rs1805192 hCV26856791 ||| peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 GGTTGACACAGAGATGCCATTCTGG[C/G]CCACCAACTTTGGGATCAGCTCCGT 12396238 NCBI Build 36.2 Human 3p,3p25.2a,3p25.2,3p25,3p2 3 0 0 0 0 Homo sapiens C__26681689_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A C/T K289K MIM:122720|PharmGKB:PA121 rs2644905 hCV26681689 Silent Mutation cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 GGTTCAACGTGGTCATCACCAGGTT[C/T]TTCAAGTAGAACTCCGTGTTGGGGT 46043807 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .01 .01 0 0 Homo sapiens C__25998038_20 ABCC11 WW|EWWD|MRP8 C/T || MIM:607040 hCV25998038 Acceptor Splice Site|Acceptor Splice Site|Intron ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 GCAGCTTTTTGGGGAACTTTGAGAT[C/T]TGCGATATGGGAAGAAGAGACAACA 46761631 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .05 0 0 0 Homo sapiens C__25998046_20 ABCC11 WW|EWWD|MRP8 C/T A414A|A414A|A414A MIM:607040 hCV25998046 Silent Mutation|Silent Mutation|Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 AAGCCCCCCAAACCCTTACCATTGA[C/T]GCTGTGAGTTTCAGCTTTAAGGATG 46806299 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .02 0 0 Homo sapiens C__25998303_20 SLC28A1 CNT1|HCNT1 A/G S366S| MIM:606207|PharmGKB:PA387 rs17222379 hCV25998303 Silent Mutation| solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 NM_004213|NM_201651 CACTCTTGCAGATCGATGCCACCTC[A/G]TTGATTGCAGCCTCTGTGATGGCTG 83277394 NCBI Build 36.2 Human 15q2,15q25,15q25.3,15q25.3a,15q 15 0 .01 0 0 Homo sapiens C__25998672_20 ABCC11 WW|EWWD|MRP8 C/T K374K|K374K|K374K MIM:607040 rs8047091 hCV25998672 Silent Mutation|Silent Mutation|Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 GGACAAGCCCGCACTTCTCCAATAG[C/T]TTCCTTTCCTTCCTTCTTAGGTCTG 46806419 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .16 .36 0 .08 Homo sapiens C__25998821_20 ABCC11 WW|EWWD|MRP8 A/G L553L|L553L|L553L MIM:607040 rs16945946 hCV25998821 Silent Mutation|Silent Mutation|Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 ACCTCCTCCAGGATGGCTGACAACA[A/G]GCTGCTCTTACCACTCCCCGTGTTG 46799860 NCBI Build 36.2 Human 16q,16q12.1a,16q12,16q12.1,16q1 16 0 .06 0 0 Homo sapiens C__25999181_20 ABCB9 TAPL|KIAA1520|EST122234 C/T || MIM:605453 hCV25999181 || ATP-binding cassette, sub-family B (MDR/TAP), member 9 NM_019624|NM_019625|NM_203444 CGAACAGCACGGGCTCCTGGCTCAC[C/T]AGGGAGATCTGGGGAGGAGGGAGCA 121985923 NCBI Build 36.2 Human 12q2,12q24,12q24.31,12q24.3,12q24.31d,12q 12 0 0 0 0 Homo sapiens C__25999323_20 ABCC11 WW|EWWD|MRP8 A/G T546M|T546M|T546M MIM:607040 rs17822471 hCV25999323 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 CAACAGGCTGCTCTTACCACTCCCC[A/G]TGTTGCCGCAGACCCCTAACATCAT 46799880 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .08 0 0 0 Homo sapiens C__25999909_20 ABCC11 WW|EWWD|MRP8 C/T H19R|H19R|H19R MIM:607040 rs16945988 hCV25999909 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 CATGTCATCGCCTATGTCGATGCCA[C/T]GATTCACGAGGCCACCAGAAGAGTT 46823278 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .06 .27 0 .03 Homo sapiens C__25999969_20 ABCC11 WW|EWWD|MRP8 C/T R180G|R180G|R180G MIM:607040 rs17822931 hCV25999969 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 11 NM_032583|NM_033151|NM_145186 TCACCAAGTCTGCCACTTACTGGCC[C/T]GAGTACACTGGCAATGCAGAAGCAG 46815699 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .14 .02 .05 .33 Homo sapiens C__26000796_20 UGT1A1 GNT1|UGT1|UDPGT|UGT1A|HUG-BR1 C/T P250S MIM:191740|PharmGKB:PA420 hCV26000796 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463 GGTGACTGTCCAGGACCTATTGAGC[C/T]CTGCATCTGTCTGGCTGTTTAGAAG 234334420 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 .01 0 0 0 Homo sapiens C__26000843_20 PON3 C/T V126V MIM:602720 rs17879114 hCV26000843 Silent Mutation paraoxonase 3 NM_000940 GGGGATGATTCACAACATAAAGATA[C/T]ACAGTATTGTCTACATGGAAAAAAG 94834726 NCBI Build 36.2 Human 7q2,7q21,7q21.3,7q21.3b,7q 7 0 .14 0 0 Homo sapiens C__26020680_10 GSTM1 MU|H-B|GST1|GTH4|GTM1|MU-1|GSTM1-1|MGC26563|GSTM1a-1a|GSTM1b-1b T/C T154T| MIM:138350|PharmGKB:PA182 rs2071487 hCV26020680 Silent Mutation|Intron glutathione S-transferase M1 NM_000561|NM_146421 ATATTCTTGGCCTTCTGCAGATCAC[T/C]TTTGTAGATTTTCTCGTCTATGATG 110034604 NCBI Build 36.2 Human 1p13,1p1,1p13.3,1p13.3b,1p 1 0 0 .02 0 Homo sapiens C__26071798_10 ALDH7A1 EPD|PDE|ATQ1 C/T T384A MIM:107323 rs2306618 hCV26071798 Mis-sense Mutation aldehyde dehydrogenase 7 family, member A1 NM_001182 TCGTGGCCAAGACCTGTCACAATTG[C/T]CGGTTCTACATAATTTCCAGGGCGA 125915695 NCBI Build 36.2 Human 5q2,5q23,5q23.2,5q23.2e,5q 5 .01 0 .08 .05 Homo sapiens C__26157902_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G H532Y|H532Y MIM:606882 hCV26157902 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 AGGGGCTGGATGACCTCTGGGTCAT[A/G]CTTGATCTCTGCCTTTCCTGCCATC 51440694 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C__26175098_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 A/G L370L MIM:605452 hCV26175098 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 GATGTGCCCCGATCCGCGATCCGCA[A/G]CACCTCCCCTGTGCGGCGCCCCAGG 219789009 NCBI Build 36.2 Human 2q3,2q35,2q35f,2q 2 0 0 0 0 Homo sapiens C__26175099_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 A/G L362L MIM:605452 hCV26175099 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 AGCACCTCCCCTGTGCGGCGCCCCA[A/G]GTGCCAGCGCAGTGAGAGCTCGTGC 219789033 NCBI Build 36.2 Human 2q3,2q35,2q35f,2q 2 0 0 0 0 Homo sapiens C__26201809_30 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*10,g.6986A>G|CYP3A5*11,g.6986A>G|CYP3A5*3A,g.6986A>G|CYP3A5*3B,g.6986A>G|CYP3A5*3C,g.6986A>G|CYP3A5*3D,g.6986A>G|CYP3A5*3E,g.6986A>G|CYP3A5*3F,g.6986A>G|CYP3A5*3G,g.6986A>G|CYP3A5*3H,g.6986A>G|CYP3A5*3I,g.6986A>G|CYP3A5*3J,g.6986A>G T/C MIM:605325|PharmGKB:PA131 rs776746 hCV26201809 Intron cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 ATGTGGTCCAAACAGGGAAGAGATA[T/C]TGAAAGACAAAAGAGCTCTTTAAAG 99108475 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 .01 .31 .26 .37 Homo sapiens C__26201810_20 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5,g.-1617T>C A/G MIM:605325|PharmGKB:PA131 rs776741 hCV26201810 cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 GGATAAAAACCATTTTAGCTGGGGT[A/G]AGATGATATCTCATTGTGGTTTTGA 99117072 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 .01 .33 .23 .33 Homo sapiens C__26201900_30 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*16B,g.20230G>A|CYP3A4*18B,g.20230G>A|CYP3A4*19,g.20230G>A|CYP3A4*1G,g.20230G>A|CYP3A4*1H,g.20230G>A C/T MIM:124010|PharmGKB:PA130 rs2242480 hCV26201900 Intron cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 CACCTCCTCCCTCCTTCTCCATGTA[C/T]CATCCACTCACCTTATTGGGTAAAA 99199402 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 .06 .28 .25 .37 Homo sapiens C__11623847_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 CYP5A1,c.781A>G A/G R261G|R261G MIM:274180|PharmGKB:PA349 rs5770 hCV11623847 Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 GAATGGCTTTTTTAACAAACTCATT[A/G]GGAATGTGATTGCCTTGCGGGACCA 139303991 NCBI Build 36.2 Human 7q,7q34c,7q34,7q3 7 0 0 0 0 Homo sapiens C__11623848_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 A/C K317Q|K317Q MIM:274180|PharmGKB:PA349 rs5771 hCV11623848 Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 TGGGTGCAAGCCGAACCCTTCCCGG[A/C]AACACCAGCCCAGCCCTATGGCCAG 139308313 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 0 0 0 0 Homo sapiens C__11623850_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 CYP5A1*5,c.1069C>G C/G L357V|L357V MIM:274180|PharmGKB:PA349 rs4529 hCV11623850 Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 CAACACACTTTCTTTTGCCACCTAC[C/G]TACTGGCCACCAACCCTGACTGCCA 139308433 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 0 .12 0 0 Homo sapiens C__11623853_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 A/G L402L|L402L MIM:274180|PharmGKB:PA349 rs5761 hCV11623853 Silent Mutation|Silent Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 TGGACATGGTGATTGCAGAGACGCT[A/G]AGGATGTACCCGCCAGCTTTCAGGT 139353428 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 0 .01 0 0 Homo sapiens C__11623856_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 CYP5A1*6,c.1249C>G C/G Q417E|Q417E MIM:274180|PharmGKB:PA349 rs4528 hCV11623856 Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 CCTCAGATTCACACGGGAGGCAGCT[C/G]AGGACTGCGAGGTGCTGGGGCAGCG 139362011 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 0 .06 0 0 Homo sapiens C__11623860_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 CYP5A1,c.1288G>A A/G T430A|T430A MIM:274180|PharmGKB:PA349 rs4526 hCV11623860 Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 GCTGGGGCAGCGCATCCCCGCAGGC[A/G]CTGTGCTAGAGATGGCCGTGGGTGC 139362050 NCBI Build 36.2 Human 7q,7q34c,7q34,7q3 7 0 .08 0 0 Homo sapiens C__11623861_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 C/T A435A|A435A MIM:274180|PharmGKB:PA349 rs4527 hCV11623861 Silent Mutation|Silent Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 CCGCAGGCGCTGTGCTAGAGATGGC[C/T]GTGGGTGCCCTGCACCATGACCCTG 139362067 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 0 .08 0 .01 Homo sapiens C__11473607_10 UGT1A1 GNT1|UGT1|UDPGT|UGT1A|HUG-BR1 UGT1A1*15,c.529T>C|UGT1A1*15,g.529T>C C/T R177C MIM:191740|PharmGKB:PA420 hCV11473607 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463 TGTATTCTTCTTGCATGCACTGCCA[C/T]GCAGCCTGGAATTTGAGGCTACCCA 234334201 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C__11473608_10 UGT1A1 GNT1|UGT1|UDPGT|UGT1A|HUG-BR1 UGT1A1*8,c.625C>T|UGT1A1*8,g.625C>T C/T R209W MIM:191740|PharmGKB:PA420 hCV11473608 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463 TTCAGATCACATGACCTTCCTGCAG[C/T]GGGTGAAGAACATGCTCATTGCCTT 234334297 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__11473614_20 UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 C/T T294I||T295I|T291I|T291I|T291I|T295I|T291I|T26I MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 hCV11473614 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019093|NM_021027|NM_205862 TGGCTCTAGGAATTTGAAGCCTACA[C/T]TAATGCTTCTGGAGAACATGGAATT 234340435 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__11473628_20 UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 C/T R341*||R342*|R338*|R338*|R338*|R342*|R338*|R73* MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 hCV11473628 Nonsense Mutation||Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019093|NM_021027|NM_205862 GGTCCTGTGGCGGTACACTGGAACC[C/T]GACCATCGAATCTTGCGAACAACAC 234341258 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__11473635_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 A/C E463A||E464A|E460A|E460A|E460A|E464A|E464A|E460A|E195A MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 hCV11473635 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CTGGACCTGGCCGTGTTCTGGGTGG[A/C]GTTTGTGATGAGGCACAAGGGCGCG 234345730 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__11473640_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 A/T *496L||*497L|*493L|*493L|*493L|*497L|*497L|*493L|*228L MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 hCV11473640 Nonsense Mutation||Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 TCCTTGGACGTGATTGGTTTCCTCT[A/T]GGCCGTCGTGCTGACAGTGGCCTTC 234345829 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__11484460_40 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*10A,g.100C>T|CYP2D6*10B,g.100C>T|CYP2D6*10D,g.100C>T|CYP2D6*14A,g.100C>T|CYP2D6*36 Dupl. or tandem,g.100C>T|CYP2D6*36 Single,g.100C>T|CYP2D6*36,g.100C>T|CYP2D6*37,g.100C>T|CYP2D6*47,g.100C>T|CYP2D6*49,g.100C>T|CYP2D6*4A,g.100C>T|CYP2D6*4B,g.100C>T|CYP2D6*4C,g.100C>T|CYP2D6*4D,g.100C>T|CYP2D6*4E,g.100C>T|CYP2D6*4F,g.100C>T|CYP2D6*4G,g.100C>T|CYP2D6*4H,g.100C>T|CYP2D6*4J,g.100C>T|CYP2D6*4K,g.100C>T|CYP2D6*4L,g.100C>T|CYP2D6*4N,g.100C>T|CYP2D6*52,g.100C>T|CYP2D6*54,g.100C>T|CYP2D6*56B,g.100C>T|CYP2D6*57,g.100C>T A/G P34S|P34S MIM:124030|PharmGKB:PA128 rs1065852 hCV11484460 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 CCGGGCAGTGGCAGGGGGCCTGGTG[A/G]GTAGCGTGCAGCCCAGCGTTGGCGC 40856638 NCBI Build 36.2 Human 22q1,22q13,22q13.2,22q13.2b,22q 22 .21 .17 .5 .33 Homo sapiens C__11486658_20 GSTT1 C/T K173E MIM:600436|PharmGKB:PA183 rs2234953 hCV11486658 Mis-sense Mutation glutathione S-transferase theta 1 NM_000853 CCCACAGCACTCACATGCATCAGCT[C/T]CGTGATGGCTACGAGGTCAGCTAAG 22706833 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.23,22q11.23b,22q 22 0 0 0 0 Homo sapiens C__11507504_10 CYP2A13 CPAD|CYP2A CYP2A13*1H,g.6432C>T|CYP2A13*2B,g.6432C>T C/T MIM:608055 rs1645694 hCV11507504 Intron cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 TAGTTCCCCCTGCAGCCCCTGTGTA[C/T]TTTCACCAATCCCCCCAACCTGCCT 46292648 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .03 .41 .01 .07 Homo sapiens C__11507507_20 CYP2A13 CPAD|CYP2A CYP2A13*1H,g.6424C>T|CYP2A13*2B,g.6424C>T|CYP2A13*3,g.6424C>T C/T MIM:608055 rs1709081 hCV11507507 Intron cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 GGGCACCCTAGTTCCCCCTGCAGCC[C/T]CTGTGTACTTTCACCAATCCCCCCA 46292640 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .04 .48 .06 .06 Homo sapiens C__11507727_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*1H,g.-2320T>C|CYP2B6*1J,g.-2320T>C|CYP2B6*4B,g.-2320T>C|CYP2B6*5B,g.-2320T>C|CYP2B6*1B,g.-2320T>C|CYP2B6*1C,g.-2320T>C C/T MIM:123930|PharmGKB:PA123 rs7254579 hCV11507727 cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 TATTGGGGGTGAATTTTGCCCGATA[C/T]CTGGCTGAATTTCCCCTGATAATGC 46186731 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .35 .17 .48 .37 Homo sapiens C__11512876_20 CYP4F11 A/G rs2305800 hCV11512876 UTR 5 cytochrome P450, family 4, subfamily F, polypeptide 11 NM_021187 CCCAGGAAGCTCCAAGGACAGTGGA[A/G]AGGGGCAAGGATGGGCAGTGCTGGA 15906294 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 .32 .21 .09 .07 Homo sapiens C__11518298_60 CYP4F11 A/G I106I rs3765070 hCV11518298 Silent Mutation cytochrome P450, family 4, subfamily F, polypeptide 11 NM_021187 CTGAGGCACTGGTGATAGGCCGGAT[A/G]ATGTCAGGGTGGCATAAAATGAGGA 15901292 NCBI Build 36.2 Human 19p13,19p1,19p13.1,19p13.12,19p13.12a,19p 19 .48 .46 .4 .33 Homo sapiens C__11606340_10 ALDH6A1 MMSDH|MMSADHA|MGC40271 C/T E518G MIM:603178 rs15566 hCV11606340 Mis-sense Mutation aldehyde dehydrogenase 6 family, member A1 NM_005589 AGGTGAGGAAAGAGTAGCATCTTCT[C/T]CTTTCCACTGAGAAGTAATGGTCTT 73597153 NCBI Build 36.2 Human 14q2,14q24,14q24.3,14q24.3a,14q 14 0 0 0 0 Homo sapiens C__11607209_20 SLC29A1 ENT1|MGC1465|MGC3778 A/G |||| MIM:602193|PharmGKB:PA154 rs14623 hCV11607209 |||| solute carrier family 29 (nucleoside transporters), member 1 NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 CCTGATATACTCCATTCTCCCCTGC[A/G]CCTCCTCCTCTGTGTTCTCTCCATG 44309685 NCBI Build 36.2 Human 6p2,6p21,6p21.1,6p21.1b,6p 6 0 0 0 0 Homo sapiens C__11654180_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 hCV11654180 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TAGAGGGCTCGGGCCACACTGATTC[A/G]CTGGCGTTGACCACCAGACAGGTTG 17390839 NCBI Build 36.2 Human 11p1,11p15,11p15.1,11p15.1d,11p 11 0 0 0 0 Homo sapiens C__11660605_50 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 A/G L17L MIM:601699 rs5583 hCV11660605 Silent Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 CGCGTGCGGCGGCGGCTCAGTAGCA[A/G]CAGCAGCAACAGTGCGGCCAGGAGG 47618012 NCBI Build 36.2 Human 20q1,20q13,20q13.1,20q13.13,20q13.13d,20q 20 0 0 0 0 Homo sapiens C__11660617_30 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 A/C V86V MIM:601699 rs5621 hCV11660617 Silent Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 CGAGCCTGGTGCGAGGCTCCCACAC[A/C]ACCGCGTCGTAGGAGTGTGGGTCCA 47597904 NCBI Build 36.2 Human 20q1,20q13,20q13.1,20q13.13,20q13.13d,20q 20 0 0 0 0 Homo sapiens C__11607769_10 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo C/T MIM:124080|PharmGKB:PA134 rs4545 hCV11607769 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 AAGGGCACGTGGTGGAAGTTCCTGC[C/T]GGAGCCCCTGATGTCTAGCCAGCGC 143991043 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 .05 .44 .49 Homo sapiens C__11609085_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T L75L|L75L MIM:610613 rs6410 hCV11609085 Silent Mutation|Silent Mutation cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 GAGGGCTTTACCTGAAAATGGGCCC[C/T]AGTTCCTGGAAGGTCTGGTGTACTT 143958007 NCBI Build 36.2 Human 8q,8q24.3f,8q24.3,8q24,8q2 8 .5 .43 .23 .19 Homo sapiens C__11617922_10 MAOB RP1-201D17__B.1|MGC26382 A/G MIM:309860 rs6324 hCV11617922 monoamine oxidase B NM_000898 TCAGCCTGAGCAGGCCTGGCACGGA[A/G]GGCAAATGTCTCTCCAAAAAGGTGG 43511759 NCBI Build 36.2 Human Xp11,Xp1,Xp11.3,Xp11.3c,Xp X .01 .05 .23 .07 Homo sapiens C__11617931_20 MAOA RP1-201D17__B.2 G/T V314F MIM:309850 rs1799835 hCV11617931 Mis-sense Mutation monoamine oxidase A NM_000240 GTGCATGATGTATTACAAGGAGGCC[G/T]TCTGGAAGAAGAAGGGTAGGCTGCT 43476029 NCBI Build 36.2 Human Xp11,Xp1,Xp11.3,Xp11.3c,Xp X 0 0 0 0 Homo sapiens C__11623818_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 CYP5A1*2,c.182G>A A/G H61R|H61R MIM:274180|PharmGKB:PA349 rs6138 hCV11623818 Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 TTCATTGGAAACTTGACATTTTTCC[A/G]CCAGGTAAGGGCTGTCTTCCATTGG 139218592 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 0 0 0 0 Homo sapiens C__11623845_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 A/C I163L|I163L MIM:274180|PharmGKB:PA349 rs6137 hCV11623845 Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 CCTCATCAGCCAAGCCTGCGAACTT[A/C]TCCTGGCTCATTTAAAACGCTATGC 139299669 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 0 0 0 0 Homo sapiens C__11623846_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 CYP5A1,c.772A>G A/G K258E|K258E MIM:274180|PharmGKB:PA349 rs5769 hCV11623846 Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 AGACGAACTGAATGGCTTTTTTAAC[A/G]AACTCATTAGGAATGTGATTGCCTT 139303982 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 0 .03 0 0 Homo sapiens C__11159938_30 NR3C1 GR|GCR|GRL|GCCR A/C |||||| MIM:138040|PharmGKB:PA181 rs6192 hCV11159938 |||||| nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 GCATTGCTTACTGAGCCTTTTGGAA[A/C]ATCAACCAAAAGTCTTCGCTGCTTG 142760405 NCBI Build 36.2 Human 5q31,5q3,5q31.3,5q31.3e,5q 5 0 .03 0 0 Homo sapiens C__11159939_20 NR3C1 GR|GCR|GRL|GCCR A/G |||||| MIM:138040|PharmGKB:PA181 rs6199 hCV11159939 |||||| nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 TCACTTGGGGCAGTGTTACATTACT[A/G]GGGCTTGACAAAACCAGATCTCCAT 142759794 NCBI Build 36.2 Human 5q31,5q3,5q31.3,5q31.3e,5q 5 0 0 0 0 Homo sapiens C__11159956_40 NR3C1 GR|GCR|GRL|GCCR A/G |||||| MIM:138040|PharmGKB:PA181 rs6197 hCV11159956 |||||| nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 TGACATACAGTTCTAAATCACAAAA[A/G]TCAGTAGCTGAGCTTTCCTGTACCA 142640422 NCBI Build 36.2 Human 5q31,5q3,5q31.3,5q31.3e,5q 5 0 0 0 0 Homo sapiens C__11159958_40 NR3C1 GR|GCR|GRL|GCCR C/T |||||| MIM:138040|PharmGKB:PA181 rs6193 hCV11159958 |||||| nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 TTGGAAATAAACTCTTGTTGTAGGA[C/T]AGAAAGGAATTAGTGTATTATTGGC 142639459 NCBI Build 36.2 Human 5q31,5q3,5q31.3,5q31.3e,5q 5 0 .06 0 0 Homo sapiens C__11194241_30 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 CYP8A1*1B,c.1117A>C|CYP8A1*1C,c.1117A>C|CYP8A1*2,c.1117A>C|CYP8A1*3,c.1117A>C|CYP8A1*4,c.1117A>C G/T R373R MIM:601699 rs5629 hCV11194241 Silent Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 TCACCACGTCGCAGGTTGAATTCTC[G/T]CCCGTCTGCCATGGGCATGGCCAGG 47563113 NCBI Build 36.2 Human 20q1,20q13,20q13.1,20q13.13,20q13.13d,20q 20 .34 .09 .18 .25 Homo sapiens C__11201742_10 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 C/T MIM:601131 rs2860840 hCV11201742 UTR 3 cytochrome P450, family 2, subfamily C, polypeptide 18 NM_000772 GGCAGATAGTTTGGCTGCTCCTGTG[C/T]TGTCACCTGCAATTCTCCCTTATCA 96485222 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 .42 .09 .26 .16 Homo sapiens C__11623862_40 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1 CYP5A1*8,c.1352C>A A/C N451T|N451T MIM:274180|PharmGKB:PA349 rs5763 hCV11623862 Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) NM_001061|NM_030984 CCTGAGCACTGGCCAAGCCCGGAGA[A/C]CTTCAACCCTGAAAGGTGAGTACTG 139362114 NCBI Build 36.2 Human 7q3,7q34,7q34c,7q 7 .01 0 0 0 Homo sapiens C__11631018_10 ABCB8 MABC1|M-ABC1|EST328128 C/T MIM:605464 rs1063963 hCV11631018 ATP-binding cassette, sub-family B (MDR/TAP), member 8 NM_007188 CGAATGCTCACGAGTTCATCACCAG[C/T]TTCCCCGAGGGCTACAACACGGTCG 150370100 NCBI Build 36.2 Human 7q3,7q36.1,7q36,7q36.1d,7q 7 0 0 0 0 Homo sapiens C__11638763_30 EPHX1 MEH|EPHX|EPOX C/T N357N MIM:132810|PharmGKB:PA27829 rs1051741 hCV11638763 Silent Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 TCTCCCTGGACGACCTGCTGACCAA[C/T]GTCATGCTCTACTGGACAACAGGCA 224098852 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.12,1q42.12c,1q 1 .06 .16 .1 .14 Homo sapiens C__11638781_10 EPHX1 MEH|EPHX|EPOX A/G Q454R MIM:132810|PharmGKB:PA27829 rs2234701 hCV11638781 Mis-sense Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 CGCAAGTTCCTGTCGGTGCTGGAGC[A/G]GCAATGACCCACCCCTCTCCCCCCG 224099664 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.12,1q42.12c,1q 1 0 0 0 0 Homo sapiens C__11638782_30 EPHX1 MEH|EPHX|EPOX C/T L406L MIM:132810|PharmGKB:PA27829 rs2234700 hCV11638782 Silent Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 CTTCTCTGCCTTCCCTTTTGAGCTA[C/T]TGCACACGCCTGAAAAGTGGGTGAG 224099519 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.12,1q42.12c,1q 1 0 .06 0 0 Homo sapiens C__11638786_30 EPHX1 MEH|EPHX|EPOX C/T F101F MIM:132810|PharmGKB:PA27829 rs2234699 hCV11638786 Silent Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 TCATCTCCTACTGGCGGAATGAATT[C/T]GACTGGAAGAAGCAGGTGGAGATTC 224086222 NCBI Build 36.2 Human 1q,1q42.12c,1q42.12,1q42.1,1q42,1q4 1 0 0 0 0 Homo sapiens C__11638788_30 EPHX1 MEH|EPHX|EPOX C/T R49C MIM:132810|PharmGKB:PA27829 rs2234697 hCV11638788 Mis-sense Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 CGCAGCCAGGGAGGACGACAGCATC[C/T]GCCCTTTCAAGGTGGAAACGTCAGA 224083198 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.12,1q42.12c,1q 1 0 .03 0 0 Homo sapiens C__11638790_10 EPHX1 MEH|EPHX|EPOX A/G MIM:132810|PharmGKB:PA27829 hCV11638790 UTR 5 epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 CAAGGAGTAATCAGAGGGTGAGAAC[A/G]TGGAGCCTGGTGGACAGGTGAAAGC 224079752 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.12,1q42.12c,1q 1 0 0 0 0 Homo sapiens C__11642651_30 CYP1B1 CP1B|GLC3A CYP1B1*4,g.4390A>G C/T N453S MIM:601771|PharmGKB:PA27094 rs1800440 hCV11642651 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 CATCACTCTGCTGGTCAGGTCCTTG[C/T]TGATGAGGCCATCCTTGTCCAAGAA 38151643 NCBI Build 36.2 Human 2p2,2p22,2p22.2,2p22.2a,2p 2 .17 .07 .01 .01 Homo sapiens C__11650812_20 HNMT HMT|HNMT-S1|HNMT-S2 C/T ||T105I MIM:605238|PharmGKB:PA190 rs35953316 hCV11650812 ||Mis-sense Mutation histamine N-methyltransferase NM_001024074|NM_001024075|NM_006895 TGTATTTTAGAGCTTGTAGCCAAGA[C/T]ATCGAACCTCGAGAACGTAAAGTTT 138476119 NCBI Build 36.2 Human 2q2,2q22.1,2q22,2q22.1b,2q 2 .15 .02 .05 .03 Homo sapiens C___7477307_30 CDA CDD C/T T145T MIM:123920|PharmGKB:PA98 rs1048977 hCV7477307 Silent Mutation cytidine deaminase NM_001785 TTGGGCCTGAGGACCTGCAGAAGAC[C/T]CAGTGACAGCCAGAGAATGCCCACT 20817642 NCBI Build 36.2 Human 1p3,1p36,1p36.1,1p36.12,1p36.12b,1p 1 .36 .39 .25 .19 Homo sapiens C___7481425_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*3,c.305G>A|CYP21A2*3,g.683A>G A/G MIM:201910 rs6474 hCV7481425 cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 CCTCCTGCAGACAAGCTGGTGTCTA[A/G]GAACTACCCGGACCTGTCCTTGGGA 32114865 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.32,6p21.32b,6p 6 .31 .05 .35 .2 Homo sapiens C___7492479_30 CHST9 GALNAC4ST-2 G/T MIM:610191 rs1155514 hCV7492479 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 NM_031422 ACAAAATCTTACCTGAAGTTACTTT[G/T]TGTTCTCTTCTCTTCTCCACTCTCC 22882440 NCBI Build 36.2 Human 18q1,18q11,18q11.2,18q11.2e,18q 18 0 0 0 0 Homo sapiens C___7494690_40 CYP4F11 C/G T485T rs1064796 hCV7494690 Silent Mutation cytochrome P450, family 4, subfamily F, polypeptide 11 NM_021187 TCGGCAGGATGCGGAAGTGCAGCAG[C/G]GTGAGCGCCAGGACCACCTTCATCT 15885662 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 .24 .16 .49 .41 Homo sapiens C___7495709_10 RALBP1 RIP|RIP1|RLIP76 A/G MIM:605801|PharmGKB:PA34199 rs3322 hCV7495709 UTR 3 ralA binding protein 1 NM_006788 GGCCTTCTCACTGGGTTGGTCAAAG[A/G]TAGTCACCTTGGCCTGGTGCATCCA 9526691 NCBI Build 36.2 Human 18p1,18p11,18p11.2,18p11.22,18p11.22b,18p 18 .12 0 0 0 Homo sapiens C___7496795_10 CYP4F3 CPF3|CYP4F|LTB4H A/G MIM:601270 rs1805041 hCV7496795 cytochrome P450, family 4, subfamily F, polypeptide 3 NM_000896 TCCTGTACCACCTTGCAAAGCACCC[A/G]GAATACCAGGAGCGCTGTCGGCAGG 15624691 NCBI Build 36.2 Human 19p13,19p1,19p13.1,19p13.12,19p13.12a,19p 19 .29 .17 .13 .16 Homo sapiens C___7496796_10 CYP4F3 CPF3|CYP4F|LTB4H A/G MIM:601270 rs4646904 hCV7496796 cytochrome P450, family 4, subfamily F, polypeptide 3 NM_000896 ACCAGGAGCGCTGTCGGCAGGAGGT[A/G]CAAGAGCTTCTGAAGGACCGTGAGC 15624721 NCBI Build 36.2 Human 19p13,19p1,19p13.1,19p13.12,19p13.12a,19p 19 .33 .35 .33 .31 Homo sapiens C___7518743_20 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 C/T L630L| MIM:602783 rs1050404 hCV7518743 Silent Mutation| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 GCTGTTTGAGCGGATGTGCATGGCC[C/T]TGGGAGGACGGGCCTCGGAAGCACT 88146996 NCBI Build 36.2 Human 16q2,16q24,16q24.3,16q24.3b,16q 16 0 0 0 0 Homo sapiens C___7527224_30 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 A/G G489G MIM:100650|PharmGKB:PA24696 rs1064933 hCV7527224 Silent Mutation aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 CCTTTGGTGGCTACAAGATGTCGGG[A/G]AGTGGCCGGGAGTTGGGCGAGTACG 110726106 NCBI Build 36.2 Human 12q2,12q24,12q24.1,12q24.12,12q24.12b,12q 12 0 0 0 0 Homo sapiens C___7527226_30 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 A/T E337V MIM:100650|PharmGKB:PA24696 rs1062136 hCV7527226 Mis-sense Mutation aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 GAGGACATCTATGATGAGTTTGTGG[A/T]GCGGAGCGTTGCCCGGGCCAAGTCT 110714896 NCBI Build 36.2 Human 12q2,12q24,12q24.1,12q24.12,12q24.12b,12q 12 0 0 0 0 Homo sapiens C___7538986_50 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 C/T T385M MIM:601131 rs2281891 hCV7538986 Mis-sense Mutation cytochrome P450, family 2, subfamily C, polypeptide 18 NM_000772 TGTCTGTTTTGCTATTTTCAGGGCA[C/T]GACCATAATAACATCCCTGACTTCT 96483048 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 .16 .1 .2 .33 Homo sapiens C___7540417_20 EPHX1 MEH|EPHX|EPOX C/T F290F MIM:132810|PharmGKB:PA27829 rs1803538 hCV7540417 Silent Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 TGTACCCCGTCAAGGAGAAGGTATT[C/T]TACAGCCTGATGAGGGAGAGCGGCT 224094300 NCBI Build 36.2 Human 1q4,1q42,1q42.1,1q42.12,1q42.12c,1q 1 0 0 0 0 Homo sapiens C___7543740_20 COMT A/G P199P|P149P MIM:116790|PharmGKB:PA117 rs769224 hCV7543740 Silent Mutation|Silent Mutation catechol-O-methyltransferase NM_000754|NM_007310 ACCACTGGAAGGACCGGTACCTGCC[A/G]GACACGCTTCTCTTGGAGGTGAGCC 18331804 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.21,22q11.21c,22q 22 .03 .13 .06 .03 Homo sapiens C___7555700_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 A/T MIM:601107|PharmGKB:PA116 rs927344 hCV7555700 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392 GTTCTGGTGTGGATTCCCTTGGGCT[A/T]CCTATGGCTCCTGGCCCCCTGGCAG 101534437 NCBI Build 36.2 Human 10q2,10q24,10q24.2,10q24.2c,10q 10 0 .02 0 0 Homo sapiens C___7568026_20 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757 C/T MIM:604323|PharmGKB:PA376 rs967935 hCV7568026 Intron ATP-binding cassette, sub-family C (CFTR/MRP), member 3 NM_003786 TGTTCAGGGTCCTTGTCCCTCCTTT[C/T]CCCTAAGCAGAAAACTGGCCCTGCC 46110387 NCBI Build 36.2 Human 17q21,17q2,17q21.3,17q21.33,17q21.33b,17q 17 .03 .18 .06 .16 Homo sapiens C___7586662_10 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 A/G G412G MIM:171050|PharmGKB:PA267 rs1128503 hCV7586662 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 GCCCACTCTGCACCTTCAGGTTCAG[A/G]CCCTTCAAGATCTACCAGGACGAGT 87017537 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 .43 .19 .32 .34 Homo sapiens C__33538994_10 SLC16A1 MCT|MCT1|FLJ36745|MGC44475 C/G MIM:600682 rs17852383 hCV33538994 solute carrier family 16, member 1 (monocarboxylic acid transporter 1) NM_003051 TACCGAAGAAAACCTGATTGAGGGG[C/G]GCCAGAGTACAGAGGAACACAGGGC 113262065 NCBI Build 36.2 Human 1p,1p13.2c,1p13.2,1p1,1p13 1 0 0 0 0 Homo sapiens C__33581550_10 COMT -/A | MIM:116790|PharmGKB:PA117 hCV33581550 Frame Shift InDel|UTR 5 catechol-O-methyltransferase NM_000754|NM_007310 TCCTGCAGCCCATCCACAACCTGCT[-/A]CATGGGTGACACCAAGGAGCAGCGC 18330199 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.21,22q11.21c,22q 22 0 0 0 0 Homo sapiens C__33587926_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E -/C MIM:124040|PharmGKB:PA129 hCV33587926 Frame Shift InDel cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 GCTGGAATCTGCCCCCAGGCCCTTT[-/C]CCCGCTTCCCATCATCGGGAACCTC 135191000 NCBI Build 36.2 Human 10q2,10q26,10q26.3,10q26.3f,10q 10 0 0 0 0 Homo sapiens C__33587927_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E -/C MIM:124040|PharmGKB:PA129 hCV33587927 Frame Shift InDel cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 CTTCCAGTTGGAATTGAAGAATATT[-/C]CCCAAGTCCTTCACCCGGGTAAGAG 135191049 NCBI Build 36.2 Human 10q2,10q26,10q26.3,10q26.3f,10q 10 0 0 0 0 Homo sapiens C__33605265_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A -/T K387 MIM:122720|PharmGKB:PA121 hCV33605265 Frame Shift Delete cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 CTGGGGGGTGGGGGCGGATAGCACC[-/T]TAGGGAGGAAGAAATCCCGAAACTT 46043040 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__33633218_10 CHST8 -/C P34 MIM:610190 hCV33633218 Frame Shift Delete carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 NM_022467 CTCCTCTTCATCAGCCTGCAGGACC[-/C]TACGGAGCTCGCCCCCCAGCAGGTG 38872108 NCBI Build 36.2 Human 19q1,19q13.1,19q13,19q13.11,19q13.11b,19q 19 0 0 0 0 Homo sapiens C__33633222_10 CHST8 -/C MIM:610190 hCV33633222 UTR 5 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 NM_022467 GAAGCAGCTGCAGCCAAGCGTGTCC[-/C]TTGGAGCCGTCCATGCGTCTGTCCG 38867898 NCBI Build 36.2 Human 19q1,19q13.1,19q13,19q13.11,19q13.11b,19q 19 0 0 0 0 Homo sapiens C__33637618_10 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 G/T C623F| MIM:602783 rs17783943 hCV33637618 Mis-sense Mutation| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 CACCTCTTCACCAAGGAGCAGCTGT[G/T]TGAGCGGATGTGCATGGCCCTGGGA 88146976 NCBI Build 36.2 Human 16q2,16q24,16q24.3,16q24.3b,16q 16 0 0 0 0 Homo sapiens C__33637660_10 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 G/T G56V|G56V MIM:602783 rs17850239 hCV33637660 Mis-sense Mutation|Mis-sense Mutation spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 CCTCCGGGGGACCTCGCCGAGGCTG[G/T]AGGCCGAGCTCTGCAGGTAAATCCC 88102493 NCBI Build 36.2 Human 16q2,16q24,16q24.3,16q24.3b,16q 16 0 0 0 0 Homo sapiens C__33659596_10 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 -/G MIM:126065 hCV33659596 UTR 5 cytochrome P450, family 24, subfamily A, polypeptide 1 NM_000782 TTGGTCCGCAAGGCTGACCTCTAGG[-/G]TCTGGCTGGAGCCACGGGGAGGTGT 52223852 NCBI Build 36.2 Human 20q1,20q13,20q13.2,20q13.2c,20q 20 0 0 0 0 Homo sapiens C__33660976_10 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 A/G R26* MIM:601699 hCV33660976 Nonsense Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 AGGTCCAGGGGAGGCTCACCAGGTC[A/G]CCTACAGAAGCCATGGCACTTGTCA 47600132 NCBI Build 36.2 Human 20q1,20q13,20q13.1,20q13.13,20q13.13d,20q 20 0 0 0 0 Homo sapiens C__33744627_10 SLC7A5 E16|CD98|LAT1|4F2LC|MPE16|hLAT1|D16S469E A/T D223V MIM:600182 rs17853937 hCV33744627 Mis-sense Mutation solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 NM_003486 GAAGTTGGGATCTAGATTGGACACA[A/T]CACCTGGCAGGGCCAAAGAAAGGAA 86432259 NCBI Build 36.2 Human 16q2,16q24,16q24.2,16q24.2b,16q 16 0 .02 0 0 Homo sapiens C__33784778_10 CYP4B1 CYPIVB1|P-450HP CYP4B1,c.1061T>G G/T | MIM:124075|PharmGKB:PA27119 rs17102592 hCV33784778 | cytochrome P450, family 4, subfamily B, polypeptide 1 NM_000779|NM_001099772 CGCGAGATCCTAGGGGACCAGGACT[G/T]CTTCCAGTGGTGAGTCTGAGGGTGG 47053514 NCBI Build 36.2 Human 1p,1p33,1p33d,1p3 1 0 .08 0 0 Homo sapiens C__30262420_10 ALDH5A1 SSDH|SSADH A/G Y223C|Y223C MIM:610045 hCV30262420 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) NM_001080|NM_170740 GTGGGGGCCGCCCTGGCAGCCGGCT[A/G]TACTGTCGTGGTGAAGCCTGCCGAA 24613134 NCBI Build 36.2 Human 6p2,6p22,6p22.2,6p22.2b,6p 6 0 0 0 0 Homo sapiens C__30283663_30 CYP2A13 CPAD|CYP2A A/T Y392F MIM:608055 rs9916987 hCV30283663 Mis-sense Mutation cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 CCTCCCTCCCAGGGCACTGAAGTGT[A/T]CCCTATGCTGGGCTCCGTGCTGAGA 46292717 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 0 .01 0 0 Homo sapiens C__30284719_10 SLC28A2 CNT2|HCNT2|SPNT1|HsT17153|MGC138252 A/G MIM:606208|PharmGKB:PA386 rs9635306 hCV30284719 solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 NM_004212 CAATACAAGAACAAACGTCTCTCTG[A/G]AATGGAGGAGTGGATTGAGGGAGAG 43348985 NCBI Build 36.2 Human 15q21,15q2,15q21.1a,15q21.1,15q 15 0 0 0 0 Homo sapiens C__30327694_10 NAT1 AAC1|NATI NAT1*11A,g.445G>A|NAT1*11B,g.445G>A A/G I149V MIM:108345|PharmGKB:PA17 rs4987076 hCV30327694 Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662 GAAGGATCAGCCTCAGGTGCCTTGT[A/G]TCTTCCGTTTGACGGAAGAGAATGG 18124281 NCBI Build 36.2 Human 8p2,8p22,8p22a,8p 8 .01 0 0 0 Homo sapiens C__30329860_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 G/T N349T MIM:124010|PharmGKB:PA130 rs10250778 hCV30329860 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 GTCAAGATACTCCATCTGTAGCACA[G/T]TATCATAGGTGGGTGGTGCCTGGAA 99197807 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30377526_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/G A398V MIM:609300 hCV30377526 Mis-sense Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 CCACTCCTTCTCATTGTGATGCAGC[A/G]CCCACAGATTGATGATAACTTCTGT 104581305 NCBI Build 36.2 Human 10q2,10q24,10q24.3,10q24.32,10q24.32b,10q 10 0 0 0 0 Homo sapiens C__30383684_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 G/T I1255L|I1048L MIM:606882 hCV30383684 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GCGACTTTCTTCCCTTTATTCTGGA[G/T]CTCCTGGACCTTGGCCACCTTGTGC 51409753 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C__30383685_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/G N1248K|N1041K MIM:606882 hCV30383685 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 TCTGGAGCTCCTGGACCTTGGCCAC[C/G]TTGTGCGAAGGCAGCACCTCTGCAA 51409772 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C__30405870_20 SLC13A1 NAS1|NaSi-1 A/G T240M MIM:606193 rs10231144 hCV30405870 Mis-sense Mutation solute carrier family 13 (sodium/sulfate symporters), member 1 NM_022444 AGAAGAGTAGGCAATGCACAAACAC[A/G]TAAGTTTACGTGTCACGTGGCCCTT 122574542 NCBI Build 36.2 Human 7q3,7q31,7q31.3,7q31.32,7q31.32b,7q 7 0 .02 0 0 Homo sapiens C__30412940_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 G/T |||| MIM:158343|PharmGKB:PA244 rs8056298 hCV30412940 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TCTCAAAACTTGAACTTCTTGGGAA[G/T]AGAAGTGTTGGGCTGAGAAGTAACA 16144024 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 0 .12 0 0 Homo sapiens C__30413920_30 UGT1A10 UDPGT|UGT1J UGT1A10*2a,g.415G>A A/G K139E MIM:606435 rs10187694 hCV30413920 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A10 NM_019075 CCGAAAATTAGTAGAATACTTAAAG[A/G]AGAGTTCTTTTGATGCAGTGTTTCT 234210322 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 .08 0 0 Homo sapiens C__30419068_20 EPHX2 CEH|SEH C/T P550L MIM:132811 rs4987060 hCV30419068 Mis-sense Mutation epoxide hydrolase 2, cytoplasmic NM_001979 CTGGATTCTGATGCCCGGAACCCAC[C/T]GGTGGTCTCAAAGATGTAGAACGCA 27457937 NCBI Build 36.2 Human 8p2,8p21,8p21.1e,8p21.1,8p 8 0 0 0 0 Homo sapiens C__30424723_10 ALDH5A1 SSDH|SSADH C/T R261*|R274* MIM:610045 hCV30424723 Nonsense Mutation|Nonsense Mutation aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) NM_001080|NM_170740 TGTATACAATGTTATTCCCTGTTCT[C/T]GAAAGAATGCCAAGGAAGTAGGGGA 24623428 NCBI Build 36.2 Human 6p2,6p22,6p22.2,6p22.2b,6p 6 0 0 0 0 Homo sapiens C__30426526_10 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 A/G S409L MIM:126065 rs6068812 hCV30426526 Mis-sense Mutation cytochrome P450, family 24, subfamily A, polypeptide 1 NM_000782 ACAAATTCTACTTACTCCTTTGGGT[A/G]AAGCATATTCACCCAGAACTGTTGC 52208042 NCBI Build 36.2 Human 20q,20q13.2c,20q13.2,20q13,20q1 20 0 0 0 0 Homo sapiens C__30443971_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E CYP2E1*4,g.4768G>A G/A I179V MIM:124040|PharmGKB:PA129 rs6413419 hCV30443971 Mis-sense Mutation cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 CCTCATCGGCTGCGCGCCCTGCAAC[G/A]TCATAGCCGACATCCTCTTCCGCAA 135195665 NCBI Build 36.2 Human 10q2,10q26,10q26.3,10q26.3f,10q 10 .02 .24 0 0 Homo sapiens C__30451673_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/C MIM:600409 rs6906237 hCV30451673 Intron peroxisome proliferator-activated receptor delta NM_006238 GCTAAAATTAGTTTCCTCTCCATGC[A/C]GAGTCTGAATATATTATAAAAATAA 35483504 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 .05 .45 .01 .04 Homo sapiens C__30459700_20 SLC13A1 NAS1|NaSi-1 A/G MIM:606193 rs6962039 hCV30459700 UTR 3 solute carrier family 13 (sodium/sulfate symporters), member 1 NM_022444 GATATATAATATTTGTACATATTTT[A/G]GGGGTGTATGTGATATTTTGCTACC 122541594 NCBI Build 36.2 Human 7q3,7q31,7q31.3,7q31.32,7q31.32b,7q 7 .28 .3 .25 .41 Homo sapiens C__30480743_10 CDA CDD A/G T70A MIM:123920|PharmGKB:PA98 hCV30480743 Mis-sense Mutation cytidine deaminase NM_001785 GCTGGGCATCTGTGCTGAACGGACC[A/G]CTATCCAGAAGGCCGTCTCAGAAGG 20804061 NCBI Build 36.2 Human 1p3,1p36,1p36.1,1p36.12,1p36.12b,1p 1 0 0 .02 0 Homo sapiens C__31358640_10 SLC15A1 PEPT1|HPECT1|HPEPT1 A/G MIM:600544|PharmGKB:PA323 rs4646206 hCV31358640 solute carrier family 15 (oligopeptide transporter), member 1 NM_005073 GCTCCCAGGGCTCCTGCGACCTGCC[A/G]GCGGGACGTGCTCCTGGCAGGTGCT 98202886 NCBI Build 36.2 Human 13q3,13q32,13q32.3a,13q32.3,13q 13 0 0 0 0 Homo sapiens C__31366013_10 SLC28A3 CNT3 A/G Y558Y MIM:608269|PharmGKB:PA426 rs11568392 hCV31366013 Silent Mutation solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NM_022127 CGATATTGGCAAAACCACAGAGAGC[A/G]TAAGTGGCGATTATCTCAGAACGAA 86085591 NCBI Build 36.2 Human 9q2,9q21,9q21.3,9q21.32,9q21.32c,9q 9 0 0 .02 .03 Homo sapiens C__31366021_10 SLC28A3 CNT3 A/G H525H MIM:608269|PharmGKB:PA426 rs11140494 hCV31366021 Silent Mutation solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NM_022127 TCCTCAAGTGGATCCATTTTGAGAG[A/G]TGCTCATAAGCCACAAATTCATTGA 86090152 NCBI Build 36.2 Human 9q2,9q21,9q21.3,9q21.32,9q21.32c,9q 9 0 .02 0 0 Homo sapiens C__31366029_10 SLC28A3 CNT3 G/T I418L MIM:608269|PharmGKB:PA426 rs11568405 hCV31366029 Mis-sense Mutation solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NM_022127 CTTTCCATTTTCATGGCATTCTTGA[G/T]GGTTATTTTAGGTTTTTCTGTCTCA 86092811 NCBI Build 36.2 Human 9q2,9q21,9q21.3,9q21.32,9q21.32c,9q 9 0 0 0 0 Homo sapiens C__31366037_10 SLC28A3 CNT3 C/T R367G MIM:608269|PharmGKB:PA426 rs11568388 hCV31366037 Mis-sense Mutation solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NM_022127 ACGCTTCCAGCAATGGTAGAGAACC[C/T]GGCGGTCATGATGGCGTGGAGTTCA 86094939 NCBI Build 36.2 Human 9q2,9q21,9q21.3,9q21.32,9q21.32c,9q 9 0 0 0 0 Homo sapiens C__31366038_10 SLC28A3 CNT3 C/T Q349R MIM:608269|PharmGKB:PA426 rs11568386 hCV31366038 Mis-sense Mutation solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NM_022127 CTTGGTGATGTAAGGTAAATATGGT[C/T]GGACCAGCAGTGGAGACTCCGTCTG 86094992 NCBI Build 36.2 Human 9q2,9q21,9q21.3,9q21.32,9q21.32c,9q 9 0 0 0 0 Homo sapiens C__31356341_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/C V900L MIM:605250|PharmGKB:PA397 rs11568673 hCV31356341 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 AGAGAAGATGATAAGTGGGAAAACA[A/C]TGGACTCCGAGCTGGGGAAACAGAC 94525795 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 0 0 0 Homo sapiens C__31356362_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/C R820I MIM:605250|PharmGKB:PA397 rs11568659 hCV31356362 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 GTCTTTGGAGAAACGATTTAAAATT[A/C]TTCCTGCAAGAACAGGATATGAAAA 94566253 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 0 0 0 Homo sapiens C__31356405_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G C579C MIM:605250|PharmGKB:PA397 rs11568664 hCV31356405 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 TTGTGATCTTCTCATGCAAAATTTG[A/G]CAAATACACCTATAAATGTAAAAGG 94620874 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 0 0 0 Homo sapiens C__31356437_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G T356M MIM:605250|PharmGKB:PA397 rs11568701 hCV31356437 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 CGTCAGCCGCACAGCCCCATACAGC[A/G]TCACTGCCACGAACACGCGGCTGGC 94656881 NCBI Build 36.2 Human 13q,13q32.1,13q32,13q32.1a,13q3 13 0 0 0 0 Homo sapiens C__31356438_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T V345V MIM:605250|PharmGKB:PA397 rs11568703 hCV31356438 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 CCACGAACACGCGGCTGGCTGTGAT[C/T]ACACTGCCGAGGAGCACGTAGGTGG 94656913 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 0 0 0 Homo sapiens C__31356439_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T K293E MIM:605250|PharmGKB:PA397 rs11568684 hCV31356439 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 TTGGTAATAAGATTTGAAAATGACT[C/T]TTCCCAGGCGTACATTTTTATTATC 94658089 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 0 0 0 Homo sapiens C__31356443_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T L244L MIM:605250|PharmGKB:PA397 rs11568679 hCV31356443 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 AGCTTTGCAAGGGCAGGAGAATGAT[C/T]AGAACTGCCATCCCAGCAAGGCACG 94659742 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 0 0 0 Homo sapiens C__31356444_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G A239A MIM:605250|PharmGKB:PA397 rs11568674 hCV31356444 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 GGAGAATGATTAGAACTGCCATCCC[A/G]GCAAGGCACGATATTCCTATCTCCA 94659757 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 0 0 0 Homo sapiens C__31356445_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/C G187W MIM:605250|PharmGKB:PA397 rs11568658 hCV31356445 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 ACTATCTGGCCTGTGGTTGTCTTCC[A/C]CATGGCCATGTTACTAAGACGAAGT 94661009 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 .01 0 .08 .06 Homo sapiens C__25473744_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G |||| MIM:158343|PharmGKB:PA244 hCV25473744 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TCACCTCCTTGTGTTCCAGGCAGCC[A/G]GTGAAGGTTGTGTACTCCTCCAAGG 16045814 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 .08 .01 0 0 Homo sapiens C__25473834_10 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 C/T MIM:171050|PharmGKB:PA267 rs2235013 hCV25473834 Intron ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 GAATTAGTAGTAGAATGTTCTTATG[C/T]TTATAAATCAGGTTGGTTTGAACTA 87016562 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .44 .43 .32 .34 Homo sapiens C__25472183_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T || MIM:171060|PharmGKB:PA268 rs8187799 hCV25472183 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 GATTTCCAGCCATTTGGGGCCATTC[C/T]AGTGGCAGCCTTTTCATCATTTAGT 86894112 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .08 .37 .02 .06 Homo sapiens C__25472256_20 CYP1B1 CP1B|GLC3A C/G V243V MIM:601771|PharmGKB:PA27094 rs9341249 hCV25472256 Silent Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 TGGGGAAGTACTGCAGCCAGGGCAT[C/G]ACGTCCACCAGGCTGCCCGCGCCCA 38155307 NCBI Build 36.2 Human 2p2,2p22,2p22.2,2p22.2a,2p 2 0 .17 .01 0 Homo sapiens C__25472276_10 TPMT A/G I158I MIM:187680|PharmGKB:PA356 rs2842934 hCV25472276 Silent Mutation thiopurine S-methyltransferase NM_000367 CTTACCATTTGCGATCACCTGGATT[A/G]ATGGCAACTAATGCTCCTCTATCCC 18247193 NCBI Build 36.2 Human 6p2,6p22.3,6p22,6p22.3d,6p 6 .26 .23 .3 .17 Homo sapiens C__25472539_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 A/G | MIM:603234 rs12931472 hCV25472539 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 GCTTCCAGAGGAACTTGAGTCTACG[A/G]CACCAGGGTCAACTTCTTCCAGGCA 16188508 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 .44 .38 .14 .09 Homo sapiens C__25472644_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 A/G | MIM:603234 rs9924755 hCV25472644 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 CCTGGTAGGAACCCATCTCTGCGAT[A/G]GCCCCATTTGCCAGCACTATGATCC 16178910 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 .18 .23 .06 .04 Homo sapiens C__25472750_20 SLC28A2 CNT2|HCNT2|SPNT1|HsT17153|MGC138252 C/T MIM:606208|PharmGKB:PA386 rs8023604 hCV25472750 solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 NM_004212 AAAGGCCAGAGCAGCTGATCCCCTT[C/T]GCAGGAATCTGCATGTTCATCCTTA 43343455 NCBI Build 36.2 Human 15q21,15q2,15q21.1a,15q21.1,15q 15 0 .49 0 0 Homo sapiens C__25472757_30 CYP4A22 RP1-18D14.1 CYP4A22*8,c.376C>T|CYP4A22*8,g.4124C>T|CYP4A22*9,c.376C>T|CYP4A22*9,g.4124C>T|CYP4A22*11,c.376C>T|CYP4A22*11,g.4124C>T|CYP4A22*12A,c.376C>T|CYP4A22*12A,g.4124C>T|CYP4A22*12B,c.376C>T|CYP4A22*12B,g.4124C>T|CYP4A22*13A,c.376C>T|CYP4A22*13A,g.4124C>T|CYP4A22*13B,c.376C>T|CYP4A22*13B,g.4124C>T|CYP4A22*14,c.376C>T|CYP4A22*14,g.4124C>T|CYP4A22*15,c.376C>T|CYP4A22*15,g.4124C>T C/T |R126W rs12564525 hCV25472757 |Mis-sense Mutation cytochrome P450, family 4, subfamily A, polypeptide 22 NM_000778|NM_001010969 TGGATCCTACAAATTCCTGGCTCCA[C/T]GGATTGGTATGTGTGCAAACTAGGA 47379868 NCBI Build 36.2 Human 1p3,1p33d,1p33,1p 1 .13 .2 .38 .27 Homo sapiens C__25472789_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T A1203A MIM:605250|PharmGKB:PA397 rs11568695 hCV25472789 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 TATACCTTGGATCCACATTTGCCGT[C/T]GCTTCATCAATAATCAATATCTGAT 94494541 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 .02 .13 0 0 Homo sapiens C__25472931_20 CDA CDD A/C K27Q MIM:123920|PharmGKB:PA98 rs2072671 hCV25472931 Mis-sense Mutation cytidine deaminase NM_001785 GCTGGTTTGCTCCCAGGAGGCCAAG[A/C]AGTCAGCCTACTGCCCCTACAGTCA 20788288 NCBI Build 36.2 Human 1p3,1p36,1p36.1,1p36.12,1p36.12b,1p 1 .32 .09 .17 .09 Homo sapiens C__25472962_20 XDH XO|XOR C/T I703V MIM:607633|PharmGKB:PA37404 rs17011368 hCV25472962 Mis-sense Mutation xanthine dehydrogenase NM_000379 GGTCCATAAAAGGAGTTGTTCTTTA[C/T]AGCATCCTGAGGATCACAAAGAAGT 31444421 NCBI Build 36.2 Human 2p2,2p23,2p23.1,2p23.1a,2p 2 .05 .12 0 0 Homo sapiens C__25473309_30 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T G319G MIM:603201|PharmGKB:PA374 rs7563233 hCV25473309 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 ATCCAGTAAAGAATCCCATCACTAT[C/T]CCTTTTCTAATTCCCCAACGCTGGG 169550992 NCBI Build 36.2 Human 2q31.1a,2q3,2q31,2q31.1,2q 2 0 .32 0 .01 Homo sapiens C__25473600_20 AOX1 AO|AOH1 A/G N1135S MIM:602841|PharmGKB:PA24842 hCV25473600 Mis-sense Mutation aldehyde oxidase 1 NM_001159 CAGACTGCTTTTGATGAAAGCATTA[A/G]CCTTTCAGCTGTTGGATACTTCAGG 201234575 NCBI Build 36.2 Human 2q,2q33.1e,2q33,2q33.1,2q3 2 .16 .16 .01 .01 Homo sapiens C__25623459_30 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T T129A MIM:609506 hCV25623459 Mis-sense Mutation cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 CTTCTGGGGGCAGAGAAGACTCACG[C/T]AGTGAGCAGTCCGCAAGCCCGCTGG 56446058 NCBI Build 36.2 Human 12q1,12q14.1a,12q14,12q14.1,12q 12 0 0 .01 0 Homo sapiens C__25623491_10 GSTM5 GTM5|GSTM5-5 C/T L128L MIM:138385 rs17596954 hCV25623491 Silent Mutation glutathione S-transferase M5 NM_000851 TCAGGAGAAACTGAAGCCAAAATAC[C/T]TGGAGGAACTCCCTGAAAAGCTAAA 110059113 NCBI Build 36.2 Human 1p13,1p1,1p13.3,1p13.3b,1p 1 .09 .01 0 0 Homo sapiens C__25624887_30 CYP1A1 AHH|AHRR|CP11|CYP1|P1-450|P450-C|P450DX CYP1A1,g.2515G>A C/T M482V MIM:108330 rs28399429 hCV25624887 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 1 NM_000499 ATGTCCACCTTCACGCCCAGTGGCA[C/T]GCTGAATTCCACCCGTTGCAGCAGG 72799978 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 .02 0 0 0 Homo sapiens C__25624894_20 CYP11A1 CYP11A|P450SCC C/T | MIM:118485 hCV25624894 | cytochrome P450, family 11, subfamily A, polypeptide 1 NM_000781|NM_001099773 TTGATGCGCCTGTGCAGGACACTGA[C/T]GAAGTCCCGAGACACTGCATCCAAC 72424528 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 0 .01 0 0 Homo sapiens C__25624897_20 CYP11A1 CYP11A|P450SCC C/T | MIM:118485 hCV25624897 | cytochrome P450, family 11, subfamily A, polypeptide 1 NM_000781|NM_001099773 CTGTAGCATCGTGGCCATGTCTCCC[C/T]GGGCCTGGTGCCGCGCAGCCAAGAC 72419047 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 .01 0 0 0 Homo sapiens C__25624898_30 CYP1A2 CP12|P3-450|P450(PA) A/G H138R MIM:124060|PharmGKB:PA27093 hCV25624898 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 GGACCGGTGTGGGCTGCCCGCCGGC[A/G]CCTGGCCCAGAATGCCCTCAACACC 72829545 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 .02 0 0 0 Homo sapiens C__25624900_30 CYP1A2 CP12|P3-450|P450(PA) CYP1A2,g.1513C>A A/C R298S MIM:124060|PharmGKB:PA27093 rs17861157 hCV25624900 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 ACAGCAAGAAGGGGCCTAGAGCCAG[A/C]GGCAACCTCATCCCACAGGAGAAGA 72830645 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 0 .07 0 0 Homo sapiens C__25625782_20 CYP2C8 CPC8|P450 MP-12/MP-20 CYP2C8*3,c.1196A>G|CYP2C8*3,g.30411A>G C/T MIM:601129|PharmGKB:PA125 rs10509681 hCV25625782 cytochrome P450, family 2, subfamily C, polypeptide 8 NM_000770 AAAGATATTTGGATTAGGAAATTCT[C/T]TGTCATCATGTAGCACGGAAGTCAG 96788739 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 .14 .02 0 0 Homo sapiens C__25625793_10 CYP2C8 CPC8|P450 MP-12/MP-20 C/T MIM:601129|PharmGKB:PA125 rs11572081 hCV25625793 cytochrome P450, family 2, subfamily C, polypeptide 8 NM_000770 ATGACGCAGAGTAGAGTCACCCACC[C/T]TTGGTTTTTCTCAACTCCTCCACAA 96816956 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 0 .18 0 0 Homo sapiens C__25625794_10 CYP2C8 CPC8|P450 MP-12/MP-20 CYP2C8*3,c.416G>A|CYP2C8*3,g.2130G>A C/T MIM:601129|PharmGKB:PA125 rs11572080 hCV25625794 cytochrome P450, family 2, subfamily C, polypeptide 8 NM_000770 CTCTTGAACACGGTCCTCAATGCTC[C/T]TCTTCCCCATCCCAAAATTCCGCAA 96817020 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 .14 .02 0 0 Homo sapiens C__25625804_10 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 CYP2C9*27,c.449G>T|CYP2C9*27,g.3627G>T|CYP2C9*8,c.449G>A|CYP2C9*8,g.3627G>A A/G MIM:601130|PharmGKB:PA126 rs7900194 hCV25625804 cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 GAGGACCGTGTTCAAGAGGAAGCCC[A/G]CTGCCTTGTGGAGGAGTTGAGAAAA 96692056 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 0 .04 0 0 Homo sapiens C__25625994_10 CYP7A1 CP7A|CYP7|MGC126826|MGC138389 G/T N86H MIM:118455 hCV25625994 Mis-sense Mutation cytochrome P450, family 7, subfamily A, polypeptide 1 NM_000780 TATTTTCCGTGGCACAACACCTTAT[G/T]GTATGACAAGGGATTTGTGATGAAA 59573407 NCBI Build 36.2 Human 8q1,8q12,8q12.1,8q12.1c,8q 8 0 0 0 0 Homo sapiens C__25625995_20 CYP7A1 CP7A|CYP7|MGC126826|MGC138389 A/G Y75Y MIM:118455 hCV25625995 Silent Mutation cytochrome P450, family 7, subfamily A, polypeptide 1 NM_000780 ACAAGGGATTTGTGATGAAATGGAC[A/G]TATTTTCCCATTAGTTTGCAGGTAA 59573438 NCBI Build 36.2 Human 8q1,8q12,8q12.1,8q12.1c,8q 8 0 .06 0 0 Homo sapiens C__25626405_20 CYP26C1 FLJ45301 C/T P3S MIM:608428 rs34954610 hCV25626405 Mis-sense Mutation cytochrome P450, family 26, subfamily C, polypeptide 1 NM_183374 TGGCCCCCGCGGGCTCATCATGTTC[C/T]CTTGGGGGCTGAGCTGCCTGTCAGT 94811017 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33a,10q23.33,10q 10 0 .01 0 0 Homo sapiens C__25626412_30 CYP26C1 FLJ45301 A/G Q238R MIM:608428 rs7917267 hCV25626412 Mis-sense Mutation cytochrome P450, family 26, subfamily C, polypeptide 1 NM_183374 TCTCTCCCTGAACATCAGGGCATCC[A/G]GGCAAGGGACCAGCTGCATCGGCAC 94814135 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33a,10q23.33,10q 10 0 .02 0 0 Homo sapiens C__25653675_20 CYP4A11 CP4Y|CYP4A2|CYP4AII A/G H88Y MIM:601310 hCV25653675 Mis-sense Mutation cytochrome P450, family 4, subfamily A, polypeptide 11 NM_000778 CGAACTTTGCCTCCCCATAGCCAAT[A/G]AGGACAGGCACTTGGGAATGTCTCC 47176330 NCBI Build 36.2 Human 1p3,1p33d,1p33,1p 1 0 0 0 0 Homo sapiens C__25653683_10 CYP4A11 CP4Y|CYP4A2|CYP4AII A/G L506F MIM:601310 hCV25653683 Mis-sense Mutation cytochrome P450, family 4, subfamily A, polypeptide 11 NM_000778 TCACAAGGGTTAGGGAGCCTCCTGA[A/G]ACGCAGGTGGATTCCATTTTTGGAT 47168418 NCBI Build 36.2 Human 1p3,1p33d,1p33,1p 1 .02 0 0 0 Homo sapiens C__25653690_10 CYP4A11 CP4Y|CYP4A2|CYP4AII A/G P385L MIM:601310 hCV25653690 Mis-sense Mutation cytochrome P450, family 4, subfamily A, polypeptide 11 NM_000778 GAGCTCTCTGCCAATGCCTGGCACC[A/G]GTGGGTAGAGCCTCAGTGCCTCCTT 47172273 NCBI Build 36.2 Human 1p3,1p33d,1p33,1p 1 .04 0 0 0 Homo sapiens C__25653730_10 CYP2A13 CPAD|CYP2A CYP2A13*1F,g.6461T>A A/T MIM:608055 hCV25653730 cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 CACCAATCCCCCCAACCTGCCTCAT[A/T]ACACACACCTTCCTCCTCCCTCCCA 46292677 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 0 0 0 0 Homo sapiens C__25653734_30 CYP2A13 CPAD|CYP2A A/C S64R MIM:608055 hCV25653734 Mis-sense Mutation cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 CACCTGCCTCCAACAGATCAGTGAG[A/C]GCTATGGCCCTGTGTTCACCATTCA 46286683 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 0 0 0 0 Homo sapiens C__25653739_20 CYP2A13 CPAD|CYP2A CYP2A13*2A,g.74G>A|CYP2A13*2B,g.74G>A A/G Q25R MIM:608055 rs8192784 hCV25653739 Mis-sense Mutation cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 GTGATGGTCTTGATGTCAGTCTGGC[A/G]GCAGAGGAAGAGCAGGGGGAAGCTG 46286290 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 .02 .15 .01 .06 Homo sapiens C__25653908_20 CYP2F1 C2F1|CYP2F|MGC126121 C/G P98R MIM:124070 hCV25653908 Mis-sense Mutation cytochrome P450, family 2, subfamily F, polypeptide 1 NM_000774 GACCAGGGAGAGGAGTTTAGTGGCC[C/G]CGGTGACTACCCTGCCTTTTTCAAC 46314321 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 .01 0 0 0 Homo sapiens C__25741767_10 CYP2C19 CPCJ|CYP2C|CYP 2C|P450C2C|P450IIC19|RP11-400G3.4 A/G N176S MIM:124020|PharmGKB:PA124 hCV25741767 Mis-sense Mutation cytochrome P450, family 2, subfamily C, polypeptide 19 NM_000769 TTCATCCTGGGCTGTGCTCCCTGCA[A/G]TGTGATCTGCTCCATTATTTTCCAG 96530291 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 0 .01 0 .02 Homo sapiens C__25744034_20 CHST9 GALNAC4ST-2 A/G MIM:610191 rs28693844 hCV25744034 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 NM_031422 TCCCGTAAAACTTCAGTCTTTTCTT[A/G]TTCTCTAAGAGCCCAATTCCATAAA 22976837 NCBI Build 36.2 Human 18q1,18q11,18q11.2,18q11.2e,18q 18 0 .04 .04 .01 Homo sapiens C__25745084_20 NR1I3 CAR|CAR1|MB67|MGC97144|MGC97209|MGC150433 C/T |||||||||||||| MIM:603881|PharmGKB:PA391 rs36017137 hCV25745084 |||||||||||||| nuclear receptor subfamily 1, group I, member 3 NM_001077469|NM_001077470|NM_001077471|NM_001077472|NM_001077473|NM_001077474|NM_001077475|NM_001077476|NM_001077477|NM_001077478|NM_001077479|NM_001077480|NM_001077481|NM_001077482|NM_005122 GCTCAGCCAGCAGGCCTAGCAACTT[C/T]GCATACAGAAACCTTTGGAGGAAGT 159466328 NCBI Build 36.2 Human 1q2,1q23,1q23.3,1q23.3a,1q 1 0 0 0 0 Homo sapiens C__25746110_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/G MIM:600409 rs9658134 hCV25746110 UTR 5 peroxisome proliferator-activated receptor delta NM_006238 AACCACCCTGTAGAGGTCCATCTGC[A/G]TTCAGACCCAGACGATGCCAGAGCT 35486776 NCBI Build 36.2 Human 6p2,6p21.3,6p21,6p21.31,6p21.31c,6p 6 0 0 0 0 Homo sapiens C__25746794_20 NR1I3 CAR|CAR1|MB67|MGC97144|MGC97209|MGC150433 A/G |||||||||||||| MIM:603881|PharmGKB:PA391 rs2307424 hCV25746794 |||||||||||||| nuclear receptor subfamily 1, group I, member 3 NM_001077469|NM_001077470|NM_001077471|NM_001077472|NM_001077473|NM_001077474|NM_001077475|NM_001077476|NM_001077477|NM_001077478|NM_001077479|NM_001077480|NM_001077481|NM_001077482|NM_005122 GAGGGGAGGTCACTCACCGGAAGAC[A/G]GGCAGGTCCTTAGTAAACTTGATGA 159469229 NCBI Build 36.2 Human 1q2,1q23,1q23.3,1q23.3a,1q 1 .43 .17 .47 .47 Homo sapiens C__25746809_50 COMT A/G M158V|M108V MIM:116790|PharmGKB:PA117 rs4680 hCV25746809 Mis-sense Mutation|Mis-sense Mutation catechol-O-methyltransferase NM_000754|NM_007310 CCAGCGGATGGTGGATTTCGCTGGC[A/G]TGAAGGACAAGGTGTGCATGCCTGA 18331271 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.21,22q11.21c,22q 22 .43 .26 .37 .31 Homo sapiens C__25747675_20 COMT G/T V100L|V50L MIM:116790|PharmGKB:PA117 hCV25747675 Mis-sense Mutation|Mis-sense Mutation catechol-O-methyltransferase NM_000754|NM_007310 TCCCCAACCCTGCACAGGCAAGATC[G/T]TGGACGCCGTGATTCAGGAGCACCA 18331097 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.21,22q11.21c,22q 22 0 0 0 0 Homo sapiens C__25747922_20 CHST9 GALNAC4ST-2 C/T MIM:610191 rs17694469 hCV25747922 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 NM_031422 CTCTGTTGGTGACCCTGTGGACTTA[C/T]TTAAAGCTTGATCCCCTCCTTGTGA 22751188 NCBI Build 36.2 Human 18q1,18q11,18q11.2,18q11.2e,18q 18 .08 0 0 0 Homo sapiens C__25748730_30 FMO6P FMO6|FLJ27001|RP1-127D3.2 A/G rs7886938 hCV25748730 flavin containing monooxygenase 6 pseudogene CCATCATGAAAAGCAGAAACAATGA[A/G]GTTACCTTGTTTAAAGGCATCTTCC 169387892 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .16 .21 .25 .18 Homo sapiens C__25748880_20 FMO6P FMO6|FLJ27001|RP1-127D3.2 A/G rs7889839 hCV25748880 flavin containing monooxygenase 6 pseudogene CTCAGCTGTGTTTGAGGATGGGACC[A/G]TGTTTGAGGCTATCGACTCTGTCAT 169387797 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .16 .22 .24 .18 Homo sapiens C__11454078_30 FMO2 FLJ40826|FMO1B1 A/G E314G MIM:603955 rs2020863 hCV11454078 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CTCACAGAAACTTCTGCCATCTTTG[A/G]GGATGGAACAGTGGAGGAGAACATT 169441155 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .1 .04 .3 .27 Homo sapiens C__11454080_30 FMO2 FLJ40826|FMO1B1 C/T R249* MIM:603955 rs2020866 hCV11454080 Nonsense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 TTCTATGCTCCGCAATGTACTGCCA[C/T]GAACAGCTGTAAAATGGATGATAGA 169439745 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 0 .02 0 0 Homo sapiens C__11454081_40 FMO2 FLJ40826|FMO1B1 C/T S81F MIM:603955 rs2020860 hCV11454081 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CCAATGCCTGAAGATTTTCCAAACT[C/T]CCTGCATAATTCTAAACTTCTGGAA 169429207 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .1 .3 0 0 Homo sapiens C__11454087_30 FMO2 FLJ40826|FMO1B1 A/G D36G MIM:603955 rs2020870 hCV11454087 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CCCACTTGCTTTGAGAGAACTGAAG[A/G]TATTGGAGGAGTGTGGAGGTTCAAA 169421583 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 .11 .03 .1 .17 Homo sapiens C__11454108_20 FMO3 FMOII|MGC34400|dJ127D3.1 C/G Q362E|Q362E MIM:136132 rs2066532 hCV11454108 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TAAAGGAGTATTTCCTCCTCTACTT[C/G]AGAAGTCAACCATAGCAGTGATTGG 169350027 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 .02 0 0 Homo sapiens C__11454110_80 FMO3 FMOII|MGC34400|dJ127D3.1 C/T N302N|N302N MIM:136132 rs2066536 hCV11454110 Silent Mutation|Silent Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 GTGGCATTGTGTCCGTAAAGCCTAA[C/T]GTGAAGGAATTCACAGAGACCTCGG 169349849 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 0 0 0 Homo sapiens C__11454111_20 FMO3 FMOII|MGC34400|dJ127D3.1 C/T A277V|A277V MIM:136132 rs2066530 hCV11454111 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 AATTGTCTCTGTTTTCCATACAGAG[C/T]CCTGAGGAAAGAGCCTGTATTTAAC 169349773 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 0 .06 0 0 Homo sapiens C__11454113_10 FMO3 FMOII|MGC34400|dJ127D3.1 C/G | MIM:136132 rs2066534 hCV11454113 Intron|Intron flavin containing monooxygenase 3 NM_001002294|NM_006894 CCGCACAGCAGAACAGGTACTACTC[C/G]CCGGGTACTCGGGTGACTCTCGTTA 169343996 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 .28 .31 .01 .01 Homo sapiens C__11454130_10 FMO3 FMOII|MGC34400|dJ127D3.1 A/G D475G|D475G MIM:136132 hCV11454130 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 AGTCCCTACCAGTTTAGGCTGGTGG[A/G]CCCAGGGCAGTGGCCAGGAGCCAGA 169353031 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 0 0 0 0 Homo sapiens C__11457484_50 CYP4F8 CPF8|CYPIVF8 A/C rs2056822 hCV11457484 cytochrome P450, family 4, subfamily F, polypeptide 8 NM_007253 TCTATGACCCCTTCCGCTTCGACCC[A/C]GAAAACGCCCAGAAGAGGTCACCTA 15600597 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 .22 .32 .29 .23 Homo sapiens C__11473115_10 UGT1A8 UDPGT|UGT1H C/G S15C MIM:606433|PharmGKB:PA37183 rs1126783 hCV11473115 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A8 NM_019076 ACCAGCCCCATTCCCCTATGTGTTT[C/G]TCTGCTGCTGACCTGTGGCTTTGCT 234191136 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__11473123_10 UGT1A8 UDPGT|UGT1H A/G |N118D MIM:606433|PharmGKB:PA37183 rs1126798 hCV11473123 |Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A8 NM_007120|NM_019076 TCTGAGTTCATCCAATGGTTTTTTT[A/G]ACTTATTTTTTTCGCATTGCAGGAG 234191444 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__26672279_20 SULT1A1 PST|STP|STP1|P-PST|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2 G/A A86V|A86V|A86V|A86V| MIM:171150|PharmGKB:PA343 hCV26672279 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Intron sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 TCACACACCTGAGGGAATCCCTGGG[G/A]CTTTGAACTCAAGGAAGGGCACCCG 28527317 NCBI Build 36.2 Human 16p1,16p11.2,16p11.2e,16p11,16p 16 0 0 0 0 Homo sapiens C__26672303_10 SULT1A1 PST|STP|STP1|P-PST|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2 C/G T290S|T290S|T290S|T290S|T212S MIM:171150|PharmGKB:PA343 rs1062482 hCV26672303 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 CCCCTCTCACAGCTCAGAGCGGAAG[C/G]TGAGGCTGCAGCCTGCCATCTTCTC 28524662 NCBI Build 36.2 Human 16p1,16p11.2,16p11.2e,16p11,16p 16 0 0 0 0 Homo sapiens C__26681687_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A C/G T305T MIM:122720|PharmGKB:PA121 rs2644907 hCV26681687 Silent Mutation cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 AGCCATAGCGCAGGGTGGTGCTGAC[C/G]GTCTCGGTGCCCCCAATGAAGAGGT 46043759 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__29204506_10 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 C/T | MIM:602783 rs8059296 hCV29204506 UTR 3| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 CTTCTTGCTGGTCTAGTCACGCATG[C/T]AGTGTTGGGGATGCCTTGGTTTTTA 88151594 NCBI Build 36.2 Human 16q2,16q24,16q24.3,16q24.3b,16q 16 0 .08 0 0 Homo sapiens C__29204507_10 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 A/G | MIM:602783 rs8058041 hCV29204507 UTR 3| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 GAGGACTTCTTGCTGGTCTAGTCAC[A/G]CATGCAGTGTTGGGGATGCCTTGGT 88151589 NCBI Build 36.2 Human 16q2,16q24,16q24.3,16q24.3b,16q 16 0 .08 0 0 Homo sapiens C__29230345_10 SLC28A1 CNT1|HCNT1 G/T | MIM:606207|PharmGKB:PA387 rs8025045 hCV29230345 UTR 3| solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 NM_004213|NM_201651 AGCTCAATCCCACAATTGGGAAGGG[G/T]TCATGGAGTGAGTGTGCAGAGAGTG 83289576 NCBI Build 36.2 Human 15q2,15q25,15q25.3,15q25.3a,15q 15 .19 .13 .07 .01 Homo sapiens C__29275952_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T || MIM:171060|PharmGKB:PA268 hCV29275952 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 GTAAGAAAAGTGAACATCATTGAAC[C/T]CCAAATTCCCTTTGATGCTGTCTGG 86910961 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 0 0 Homo sapiens C__29275960_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || MIM:171060|PharmGKB:PA268 hCV29275960 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 AATGGCACATACTGTTCCCACGACA[A/G]AGTAGGGCCATTCTGTTTTATTCAG 86891237 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 0 0 Homo sapiens C__27859520_10 ATP7A MK|MNK|RP3-465G10.1 C/T MIM:300011|PharmGKB:PA72 hCV27859520 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 TTCTCACAAGGTTGCTAAAGTGAAG[C/T]AACTTCAAGAGGAGGGGAAACGGGT 77184799 NCBI Build 36.2 Human Xq21.1,Xq2,Xq21.1a,Xq21,Xq X 0 0 0 0 Homo sapiens C__27859522_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/G P721S| MIM:606882 hCV27859522 Mis-sense Mutation|Intron ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 ATGTTGGCTGACCTGTGTCTCAGAG[A/G]TTTGTAGGCCTGAACGTAGAAGTAC 51430642 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C__27859524_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T S1099G|S892G MIM:606882 hCV27859524 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 CTGACTTTGCACCCAATTCCACAGC[C/T]TGGCACTGCCTGGAAGTCCGTGCAG 51414640 NCBI Build 36.2 Human 13q1,13q14,13q14.3,13q14.3d,13q 13 0 0 0 0 Homo sapiens C__27859705_10 CHST6 MCDC1 A/G MIM:605294 hCV27859705 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 GCCTCGCCGCCTGCTGGGGACGAGG[A/G]CCCTGGCCGGGAAACCAGAAAGAGG 74071137 NCBI Build 36.2 Human 16q2,16q23.1,16q23.1a,16q23,16q 16 0 0 0 0 Homo sapiens C__27859708_10 CHST6 MCDC1 A/G MIM:605294 hCV27859708 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 GCGGCGCCAAGGCAGATAGGCATCA[A/G]ACACGTCCATGTCGCACAGGAAGAC 74070908 NCBI Build 36.2 Human 16q2,16q23.1,16q23.1a,16q23,16q 16 0 0 0 0 Homo sapiens C__27859800_10 CYP11A1 CYP11A|P450SCC A/G | MIM:118485 hCV27859800 | cytochrome P450, family 11, subfamily A, polypeptide 1 NM_000781|NM_001099773 TGCCGCGCAGCCAAGACCTCTGCCC[A/G]CAGCATATCCTGCACCTTCAGGTTG 72419081 NCBI Build 36.2 Human