chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error adrenalmet.rcnt.llr3_ref adrenalmet.rcnt.llr3_var adrenalmet.rcnt.llr3_VAF livermet.rcnt.llr3_ref livermet.rcnt.llr3_var livermet.rcnt.llr3_VAF lungmet.rcnt.llr3_ref lungmet.rcnt.llr3_var lungmet.rcnt.llr3_VAF spinalmet.rcnt.llr3_ref spinalmet.rcnt.llr3_var spinalmet.rcnt.llr3_VAF tumor.rcnt.llr3_ref tumor.rcnt.llr3_var tumor.rcnt.llr3_VAF cluster 1 110359957 110359957 C T SNP AHCYL1 NM_006621 human genbank 54_36p 1 validated intronic c.782+281 e7+281 0.002 - - - no_errors 158 2 1.25 104 20 16.13 151 0 0 142 0 0 150 4 2.58 7 6 48902663 48902663 T G SNP ENSG00000221175 ENST00000408248 human ensembl 54_36p 1 novel 5_prime_flanking_region c.-22856 NULL 0.007 - - - no_errors 150 27 15.25 97 0 0 147 1 0.68 178 0 0 189 0 0 6 6 49276467 49276467 G C SNP - - - - - - - - - - - - - - - 91 0 0 144 0 0 85 0 0 63 17 21.25 117 1 0.85 9 6 50173697 50173697 C G SNP DEFB112 NM_001037498 human genbank 54_36p -1 provisional 5_prime_flanking_region c.-49374 NULL 0 - - - no_errors 117 0 0 92 0 0 126 0 0 115 30 20.69 179 0 0 9 6 50179508 50179508 A T SNP - - - - - - - - - - - - - - - 113 26 18.71 98 0 0 113 0 0 128 0 0 141 0 0 6 6 50519104 50519104 T G SNP - - - - - - - - - - - - - - - 125 76 37.81 93 81 46.29 173 4 2.26 197 0 0 175 18 9.33 2 6 50534952 50534952 A G SNP - - - - - - - - - - - - - - - 88 0 0 128 0 0 70 15 17.44 82 24 22.64 99 41 29.08 3 6 50568504 50568504 T A SNP - - - - - - - - - - - - - - - 138 0 0 197 0 0 138 23 14.29 183 0 0 115 47 29.01 5 6 50909762 50909762 C T SNP TFAP2B NM_003221 human genbank 54_36p 1 reviewed intronic c.602-1971 e4-1971 0.045 - - - no_errors 172 0 0 232 0 0 121 2 1.63 174 0 0 129 47 26.7 8 6 51288265 51288265 A T SNP - - - - - - - - - - - - - - - 175 0 0 198 0 0 176 0 0 134 34 20.24 180 0 0 9 6 53035144 53035144 A C SNP ICK NM_014920 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-21151 NULL 0 - - - no_errors 160 48 22.97 97 19 16.24 155 1 0.64 168 0 0 161 5 3.01 4 6 55918529 55918529 A C SNP ENSG00000214604 ENST00000398649 human ensembl 54_36p -1 novel 5_prime_flanking_region c.-5148 NULL 0.013 - - - no_coding_region:pseudogene 57 32 35.96 187 127 40.45 222 5 2.19 229 2 0.87 203 11 5.14 2 6 57180847 57180847 C T SNP RAB23 NM_016277 human genbank 54_36p -1 reviewed intronic c.156-377 e2-377 0.002 - - - no_errors 142 0 0 169 0 0 99 18 15.25 115 30 20.69 112 34 23.29 3 6 58602457 58602457 T G SNP LOC727842 XR_015140 human genbank 54_36p -1 model 5_prime_flanking_region c.-47179 NULL 0.137 - - - pseudogene 71 27 27.55 89 20 18.35 100 0 0 98 0 0 121 5 3.97 4 6 96859305 96859305 C T SNP ENSG00000223167 ENST00000411235 human ensembl 54_36p 1 novel 3_prime_flanking_region c.*21843 NULL 0.001 - - - no_errors 89 77 46.11 113 92 44.88 123 2 1.6 151 2 1.31 167 11 6.18 2 6 97417052 97417052 A G SNP GPR63 NM_030784 human genbank 54_36p -1 validated 5_prime_flanking_region c.-62724 NULL 0.211 - - - no_errors 215 0 0 184 0 0 103 12 10.43 125 23 15.54 135 52 27.81 3 6 97473303 97473303 C G SNP KLHL32 NM_052904 human genbank 54_36p 1 validated 5_prime_flanking_region c.-48355 NULL 0.004 - - - no_errors 130 0 0 132 0 0 112 0 0 87 26 23.01 162 0 0 9 6 97912586 97912586 C G SNP - - - - - - - - - - - - - - - 99 0 0 70 21 23.08 127 0 0 116 0 0 141 0 0 7 6 98144517 98144517 C T SNP - - - - - - - - - - - - - - - 43 35 44.87 73 53 42.06 88 1 1.12 119 0 0 115 4 3.36 2 6 99123934 99123934 G T SNP - - - - - - - - - - - - - - - 134 33 19.76 137 47 25.54 151 2 1.31 159 1 0.62 146 12 7.59 4 6 99144022 99144022 G A SNP - - - - - - - - - - - - - - - 199 1 0.5 226 1 0.44 161 29 15.18 183 2 1.08 132 42 24.14 5 6 100130338 100130338 G T SNP ENSG00000219755 ENST00000407121 human ensembl 54_36p 1 known 3_prime_untranslated_region c.*100130338 NULL 1 - - - no_coding_region:pseudogene 170 0 0 123 0 0 101 19 15.83 96 32 24.81 134 30 18.29 3 6 101334520 101334520 G A SNP ASCC3 NM_006828 human genbank 54_36p -1 validated intronic c.1396-12578 e8-12578 0.005 - - - no_errors 76 0 0 106 0 0 71 11 13.41 78 9 10.34 103 28 21.37 3 6 102992907 102992907 A C SNP LOC100132919 XM_001716737 human genbank 54_36p -1 model 3_prime_flanking_region c.*14989 NULL 1 - - - no_errors 100 0 0 112 0 0 157 0 0 111 24 17.65 157 0 0 9 6 103034674 103034674 G T SNP LOC100132919 XM_001716737 human genbank 54_36p -1 model intronic c.456+10502 e3+10502 0 - - - no_errors 78 0 0 160 0 0 107 20 15.75 101 12 10.62 101 25 19.84 3 6 103399899 103399899 G A SNP - - - - - - - - - - - - - - - 72 12 14.29 69 14 16.87 112 0 0 104 2 1.87 116 1 0.85 4 6 103477515 103477515 A T SNP - - - - - - - - - - - - - - - 113 63 35.8 99 76 43.43 194 3 1.52 209 3 1.42 200 12 5.66 2 6 103604780 103604780 A G SNP ENSG00000217120 ENST00000407015 human ensembl 54_36p 1 known 3_prime_flanking_region c.*46315 NULL 0.001 - - - no_coding_region:pseudogene 62 17 21.52 80 34 29.82 89 0 0 120 0 0 111 5 4.31 4 6 103810336 103810336 G T SNP - - - - - - - - - - - - - - - 112 0 0 148 0 0 105 17 13.93 113 23 16.91 118 45 27.61 3 6 104027186 104027186 T A SNP - - - - - - - - - - - - - - - 107 0 0 179 0 0 191 2 1.03 133 32 19.39 148 0 0 9 6 117127430 117127430 G A SNP KPNA5 NM_002269 human genbank 54_36p 1 reviewed intronic c.435+776 e5+776 0.001 - - - no_errors 167 0 0 188 0 0 183 34 15.67 197 45 18.6 192 63 24.61 3 6 117752227 117752227 C A SNP ROS1 NM_002944 human genbank 54_36p -1 reviewed missense c.5602 p.V1868F 0.526 NULL "HMMSmart_LY,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_II,HMMPfam_fn3,HMMSmart_FN3,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF63825" - no_errors 110 0 0 118 0 0 129 22 14.57 155 0 0 125 45 26.47 5 6 118310721 118310721 A C SNP SLC35F1 NM_001029858 human genbank 54_36p 1 validated 5_prime_flanking_region c.-24862 NULL 0 - - - no_errors 237 0 0 213 1 0.47 196 30 13.27 234 1 0.43 129 55 29.89 5 6 119480716 119480716 T A SNP FAM184A NM_001100411 human genbank 54_36p -1 validated intronic c.1+31226 e0+31226 0.003 - - - no_errors 266 0 0 276 0 0 128 18 12.33 140 39 21.67 180 57 24.05 3 6 119610996 119610996 C G SNP MAN1A1 NM_005907 human genbank 54_36p -1 reviewed intronic c.992+128 e5+128 0 - - - no_errors 93 0 0 98 0 0 104 0 0 68 27 28.42 105 0 0 9 6 119817960 119817960 T G SNP - - - - - - - - - - - - - - - 132 40 23.26 186 62 24.9 128 0 0 185 0 0 156 4 2.5 4 6 120890851 120890851 A T SNP ENSG00000206857 ENST00000384130 human ensembl 54_36p -1 novel 5_prime_flanking_region c.-1606 NULL 0.036 - - - no_errors 100 0 0 126 18 12.5 103 0 0 131 0 0 145 2 1.35 7 6 121308670 121308670 A G SNP - - - - - - - - - - - - - - - 157 0 0 400 120 23.08 238 0 0 253 0 0 193 6 3.02 7 6 122215854 122215854 A T SNP ENSG00000220184 ENST00000406327 human ensembl 54_36p -1 known 3_prime_flanking_region c.*5242 NULL 0 - - - no_coding_region:pseudogene 128 36 21.95 119 40 25.16 148 1 0.67 137 0 0 162 5 2.99 4 6 123538582 123538582 G A SNP TRDN NM_006073 human genbank 54_36p -1 validated 3_prime_flanking_region c.*42863 NULL 0.093 - - - no_errors 164 0 0 292 83 22.13 243 0 0 248 0 0 213 6 2.74 7 6 124021182 124021182 A T SNP TRDN NM_006073 human genbank 54_36p -1 validated 5_prime_flanking_region c.-21563 NULL 0.002 - - - no_errors 225 0 0 323 0 0 200 0 0 171 52 23.21 212 0 0 9 6 129508904 129508904 A C SNP LAMA2 NM_000426 human genbank 54_36p 1 reviewed intronic c.820-893 e6-893 0.001 - - - no_errors 150 27 15.25 125 46 26.9 203 2 0.98 200 0 0 203 7 3.33 4 6 130021483 130021483 T C SNP ARHGAP18 NM_033515 human genbank 54_36p -1 validated intronic c.114-16627 e2-16627 0 - - - no_errors 174 0 0 150 0 0 103 20 16.26 138 35 20.11 117 34 22.52 3 6 130937388 130937388 G T SNP ENSG00000202438 ENST00000365568 human ensembl 54_36p -1 novel 5_prime_flanking_region c.-438 NULL 0.003 - - - no_errors 121 27 18.24 183 0 0 126 0 0 133 0 0 154 0 0 6 6 131730938 131730938 T C SNP - - - - - - - - - - - - - - - 72 34 32.08 39 36 48 82 4 4.65 83 0 0 88 9 9.28 2 6 132075413 132075413 G T SNP ENPP3 NM_005021 human genbank 54_36p 1 reviewed intronic c.1413-6092 e16-6092 0 - - - no_errors 153 0 0 75 0 0 107 0 0 133 0 0 124 24 16.22 8 6 132319804 132319804 G C SNP LOC100131774 XM_001717693 human genbank 54_36p 1 model intronic c.787+5717 e2+5717 0.007 - - - no_errors 148 33 18.23 153 0 0 134 0 0 180 0 0 175 1 0.57 6 6 141812628 141812628 A T SNP LOC729076 XM_001132474 human genbank 54_36p 1 model 5_prime_flanking_region c.-36459 NULL 0.003 - - - no_errors 127 0 0 412 0 0 197 36 15.45 198 37 15.74 199 59 22.87 3 6 142312187 142312187 T C SNP - - - - - - - - - - - - - - - 67 18 21.18 139 47 25.27 126 1 0.78 134 0 0 180 4 2.17 4 6 144496653 144496653 A T SNP STX11 NM_003764 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-52805 NULL 0.023 - - - no_errors 116 0 0 144 0 0 99 23 18.85 111 31 21.83 116 38 24.52 3 6 144924303 144924303 G C SNP UTRN NM_007124 human genbank 54_36p 1 reviewed intronic c.7289+4163 e49+4163 0.028 - - - no_errors 173 1 0.57 164 0 0 170 0 0 152 22 12.64 160 0 0 9 6 145323291 145323291 C G SNP - - - - - - - - - - - - - - - 145 35 19.44 178 0 0 144 0 0 188 0 0 199 0 0 6 6 145591500 145591500 T A SNP - - - - - - - - - - - - - - - 193 0 0 242 76 23.9 126 0 0 147 0 0 197 6 2.96 7 6 145717562 145717562 T C SNP ENSG00000221796 ENST00000408869 human ensembl 54_36p 1 novel 3_prime_flanking_region c.*5884 NULL 0 - - - no_errors 252 0 0 128 40 23.81 210 0 0 215 0 0 215 6 2.71 7 7 2798617 2798617 C G SNP GNA12 NM_007353 human genbank 54_36p -1 validated intronic c.525+2471 e2+2471 0.001 - - - no_errors 124 0 0 76 0 0 84 14 14.29 99 35 26.12 115 26 18.44 3 7 3768336 3768336 C A SNP SDK1 NM_152744 human genbank 54_36p 1 validated intronic c.714-59272 e5-59272 0.002 - - - no_errors 289 0 0 265 0 0 223 0 0 267 47 14.92 243 0 0 9 7 3882114 3882114 C A SNP SDK1 NM_152744 human genbank 54_36p 1 validated intronic c.847+54373 e5+54373 0.002 - - - no_errors 148 44 22.92 162 0 0 154 0 0 218 0 0 234 0 0 6 7 7439179 7439179 G A SNP COL28A1 NM_001037763 human genbank 54_36p -1 validated intronic c.1861-323 e23-323 0 - - - no_errors 235 0 0 203 0 0 205 0 0 180 44 19.64 249 0 0 9 7 8478845 8478845 A G SNP NXPH1 NM_152745 human genbank 54_36p 1 reviewed intronic c.54+36923 e1+36923 0 - - - no_errors 277 0 0 280 0 0 233 1 0.43 246 38 13.38 293 0 0 9 7 8765760 8765760 G T SNP NXPH1 NM_152745 human genbank 54_36p 1 reviewed 3_prime_flanking_region c.*7836 NULL 0.167 - - - no_errors 133 2 1.48 107 0 0 152 0 0 153 24 13.56 167 0 0 9 7 9237639 9237639 C T SNP - - - - - - - - - - - - - - - 147 0 0 107 26 19.55 228 1 0.44 219 0 0 251 5 1.95 7 7 9812796 9812796 G A SNP LOC340268 XR_041608 human genbank 54_36p 1 model intronic c.NULL NULL 0.235 - - - no_errors 125 0 0 130 0 0 136 0 0 122 29 19.21 210 0 0 9 9 72590416 72590416 T C SNP TRPM3 NM_001007471 human genbank 54_36p -1 reviewed intronic c.974-1401 e7-1401 0.021 - - - no_errors 146 40 21.51 254 71 21.71 211 2 0.94 259 0 0 247 7 2.75 4 9 76957621 76957621 T A SNP ENSG00000212316 ENST00000391014 human ensembl 54_36p 1 novel 5_prime_flanking_region c.-45186 NULL 0.001 - - - no_errors 91 33 26.61 151 45 22.84 136 1 0.73 169 0 0 181 4 2.15 4 9 77620839 77620839 T C SNP - - - - - - - - - - - - - - - 188 1 0.53 415 0 0 191 41 17.67 231 1 0.43 177 65 26.75 5 9 78648387 78648387 G T SNP PRUNE2 ENST00000376713 human ensembl 54_36p -1 known intronic c.508+2864 e4+2864 0.07 - - - no_errors 126 0 0 247 0 0 111 18 13.95 117 16 12.03 114 36 24 3 9 78768991 78768991 C T SNP ENSG00000220243 ENST00000403452 human ensembl 54_36p 1 known 5_prime_flanking_region c.-27844 NULL 0.002 - - - no_coding_region:pseudogene 195 0 0 244 0 0 133 19 12.34 171 43 20.09 135 46 25.27 3 9 79055566 79055566 G T SNP VPS13A NM_033305 human genbank 54_36p 1 reviewed intronic c.2170+601 e21+601 0.001 - - - no_errors 98 47 32.41 195 0 0 156 0 0 168 0 0 210 0 0 6 9 79451567 79451567 C A SNP GNA14 NM_004297 human genbank 54_36p -1 reviewed intronic c.124+839 e1+839 0.056 - - - no_errors 178 0 0 167 0 0 135 30 18.18 177 46 20.63 149 42 21.99 3 9 79928379 79928379 G A SNP ENSG00000222452 ENST00000410520 human ensembl 54_36p 1 novel 5_prime_flanking_region c.-41822 NULL 0.005 - - - no_errors 84 0 0 173 0 0 93 0 0 80 15 15.79 100 0 0 9 9 82200493 82200493 A G SNP ENSG00000218777 ENST00000404193 human ensembl 54_36p -1 known 5_prime_flanking_region c.-35420 NULL 0.269 - - - no_coding_region:pseudogene 64 22 25.58 78 72 48 139 0 0 123 0 0 114 12 9.52 4 9 83267462 83267462 A T SNP ENSG00000217894 ENST00000406075 human ensembl 54_36p 1 known 5_prime_flanking_region c.-25581 NULL 0.027 - - - no_coding_region:pseudogene 156 0 0 148 0 0 135 0 0 105 31 22.79 168 0 0 9 9 83417270 83417270 C A SNP TLE1 NM_005077 human genbank 54_36p -1 provisional intronic c.1064-576 e13-576 0 - - - no_errors 110 38 25.68 42 47 52.81 110 1 0.9 149 0 0 171 8 4.47 2 9 87569416 87569416 G T SNP LOC100129901 XM_001716099 human genbank 54_36p 1 model intronic c.127-27 e3-27 0.799 - - - no_errors 203 0 0 126 33 20.75 166 0 0 215 0 0 199 9 4.33 7 9 88816952 88816952 A G SNP ENSG00000186882 ENST00000334730 human ensembl 54_36p 1 novel 3_prime_untranslated_region c.*88816952 NULL 1 - - - no_coding_region:pseudogene 220 0 0 160 0 0 145 22 13.17 149 39 20.63 143 55 27.78 3 9 90860126 90860126 G A SNP SHC3 NM_016848 human genbank 54_36p -1 validated intronic c.836-3228 e7-3228 0.002 - - - no_errors 173 0 0 100 0 0 72 20 21.74 98 26 20.97 99 33 25 3 9 93339819 93339819 A T SNP ROR2 ENST00000375715 human ensembl 54_36p -1 known 3_prime_flanking_region c.*156646 NULL 0.003 - - - no_errors 100 41 29.08 275 0 0 133 0 0 159 0 0 177 0 0 6 9 97892203 97892203 T A SNP ENSG00000201938 ENST00000365068 human ensembl 54_36p -1 novel 3_prime_flanking_region c.*12979 NULL 0 - - - no_errors 171 0 0 180 0 0 95 8 7.77 157 1 0.63 93 23 19.83 5 9 99878405 99878405 C T SNP TRIM14 NM_033220 human genbank 54_36p -1 reviewed intronic c.1329-6615 e7-6615 0 - - - no_errors 160 0 0 189 0 0 136 0 0 123 44 26.35 200 0 0 9 9 100276456 100276456 G T SNP GABBR2 NM_005458 human genbank 54_36p -1 validated intronic c.799-1007 e6-1007 0.001 - - - no_errors 135 2 1.46 186 0 0 73 8 9.88 90 20 18.18 108 34 23.78 3 9 101815469 101815469 A C SNP ERP44 NM_015051 human genbank 54_36p -1 validated intronic c.762+2956 e8+2956 0.014 - - - no_errors 192 0 0 170 0 0 200 34 14.41 152 61 28.64 176 60 25.42 3 9 101950362 101950362 C G SNP INVS NM_014425 human genbank 54_36p 1 reviewed intronic c.273+21710 e2+21710 0 - - - no_errors 96 28 22.4 121 87 41.83 114 19 14.29 119 29 19.59 115 32 21.77 1 9 102564991 102564991 G T SNP ENSG00000219293 ENST00000404047 human ensembl 54_36p 1 known 3_prime_flanking_region c.*30549 NULL 0 - - - no_coding_region:pseudogene 116 0 0 261 0 0 122 19 13.38 124 0 0 92 34 26.98 5 9 103356303 103356303 C G SNP RNF20 NM_019592 human genbank 54_36p 1 reviewed intronic c.2019+95 e13+95 0 - - - no_errors 105 0 0 156 0 0 150 0 0 108 44 28.95 185 0 0 9 9 105709515 105709515 C G SNP - - - - - - - - - - - - - - - 126 0 0 153 0 0 175 0 0 159 53 25 212 0 0 9 9 105790749 105790749 G A SNP - - - - - - - - - - - - - - - 126 1 0.78 327 0 0 116 29 20 154 0 0 132 46 25.84 5 9 105825009 105825009 T C SNP - - - - - - - - - - - - - - - 83 32 27.83 122 113 48.09 127 20 13.61 162 34 17.35 119 48 28.74 1 9 107431799 107431799 A T SNP FKTN NM_001079802 human genbank 54_36p 1 reviewed intronic c.1173-5354 e9-5354 0.021 - - - no_errors 166 0 0 311 0 0 214 49 18.63 221 53 19.34 150 53 26.11 3 9 108142026 108142026 C G SNP - - - - - - - - - - - - - - - 97 0 0 137 0 0 82 18 18 95 23 19.49 108 24 18.18 3 9 110136656 110136656 A G SNP ENSG00000222512 ENST00000410580 human ensembl 54_36p -1 novel 3_prime_flanking_region c.*24297 NULL 0.998 - - - no_errors 100 1 0.99 133 0 0 106 0 0 90 21 18.92 131 0 0 9 9 110925162 110925162 C A SNP C9orf5 NM_032012 human genbank 54_36p -1 validated 5_prime_flanking_region c.-3148 NULL 0.013 - - - no_errors 229 0 0 121 0 0 186 0 0 219 0 0 174 50 22.32 8 9 111851665 111851665 C G SNP PALM2-AKAP2 NM_007203 human genbank 54_36p 1 validated intronic c.582+33525 e7+33525 0 - - - no_errors 94 43 31.39 183 0 0 132 0 0 153 0 0 119 0 0 6 9 116561273 116561273 C T SNP LOC100129633 XM_001718491 human genbank 54_36p -1 model 5_prime_flanking_region c.-12976 NULL 0.002 - - - no_errors 168 0 0 583 0 0 155 0 0 202 0 0 145 35 19.44 8 9 116716911 116716911 T G SNP TNFSF8 NM_001244 human genbank 54_36p -1 reviewed intronic c.238+3286 e2+3286 0 - - - no_errors 145 53 26.63 87 58 40 123 39 24.07 128 36 21.95 127 55 30.22 1 9 117468997 117468997 C T SNP - - - - - - - - - - - - - - - 151 62 29.11 218 159 42.06 179 0 0 228 0 0 223 7 3.04 4 9 118381668 118381668 G A SNP ASTN2 NM_198187 human genbank 54_36p -1 validated intronic c.3355+38756 e19+38756 0.001 - - - no_errors 91 39 30 176 39 18.14 111 0 0 142 0 0 137 6 4.2 4 9 118892426 118892426 C T SNP ASTN2 NM_198187 human genbank 54_36p -1 validated intronic c.1276+5718 e5+5718 0.001 - - - no_errors 228 0 0 291 1 0.34 177 23 11.5 197 57 22.44 170 60 25.97 3 9 119906713 119906713 G C SNP LOC389787 XM_001725747 human genbank 54_36p -1 model 5_prime_flanking_region c.-21334 NULL 1 - - - no_errors 142 0 0 85 0 0 120 20 14.29 168 1 0.59 125 30 19.23 5 9 119966859 119966859 C T SNP - - - - - - - - - - - - - - - 117 0 0 165 0 0 92 15 14.02 103 22 17.6 110 28 20.29 3 9 121221226 121221226 C T SNP DBC1 NM_014618 human genbank 54_36p -1 validated 5_prime_flanking_region c.-105772 NULL 0.026 - - - no_errors 104 37 26.24 75 72 48.98 129 1 0.77 130 0 0 156 13 7.69 2 10 29461916 29461916 T C SNP - - - - - - - - - - - - - - - 125 31 19.87 81 1 1.2 123 1 0.81 169 0 0 174 0 0 6 10 29919312 29919312 G C SNP SVIL NM_021738 human genbank 54_36p -1 reviewed intronic c.1-21065 e1-21065 0.031 - - - no_errors 106 30 21.9 103 0 0 101 0 0 137 0 0 124 0 0 6 10 30169005 30169005 C T SNP - - - - - - - - - - - - - - - 276 1 0.36 198 0 0 173 29 14.36 220 52 19.12 177 53 23.04 3 10 32654300 32654300 C G SNP EPC1 NM_025209 human genbank 54_36p -1 provisional intronic c.154-19435 e2-19435 0 - - - no_errors 162 0 0 147 0 0 171 14 7.57 183 0 0 198 44 18.18 5 10 33920504 33920504 G T SNP - - - - - - - - - - - - - - - 180 0 0 182 0 0 113 22 16.3 188 3 1.57 141 40 22.1 5 10 33978032 33978032 C G SNP - - - - - - - - - - - - - - - 159 0 0 149 0 0 103 14 11.97 136 2 1.45 112 37 24.83 5 10 34419015 34419015 G A SNP PARD3 NM_019619 human genbank 54_36p -1 provisional 3_prime_flanking_region c.*21088 NULL 0.015 - - - no_errors 244 0 0 265 0 0 176 0 0 267 0 0 216 31 12.55 8 10 34419041 34419041 C T SNP PARD3 NM_019619 human genbank 54_36p -1 provisional 3_prime_flanking_region c.*21062 NULL 0 - - - no_errors 225 1 0.44 228 1 0.43 156 0 0 216 39 15.29 229 0 0 9 10 34647328 34647328 A G SNP PARD3 NM_019619 human genbank 54_36p -1 provisional intronic c.2843-1056 e20-1056 0.001 - - - no_errors 163 34 17.17 214 1 0.47 216 0 0 220 0 0 246 0 0 6 10 36464896 36464896 G T SNP - - - - - - - - - - - - - - - 73 62 45.93 102 72 41.14 204 1 0.49 221 1 0.45 240 12 4.76 2 10 37680767 37680767 G C SNP LOC646360 XM_933553 human genbank 54_36p 1 model 3_prime_flanking_region c.*9500 NULL 0.002 - - - no_errors 76 30 28.3 139 38 21.47 166 0 0 213 0 0 208 7 3.26 4 10 43989381 43989381 G T SNP - - - - - - - - - - - - - - - 247 0 0 298 0 0 136 14 9.33 142 44 23.66 158 63 28.51 3 10 52157626 52157626 G A SNP LOC653895 XR_037143 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene 97 25 20.49 59 18 23.08 77 1 1.28 101 0 0 91 8 8.08 4 10 52263467 52263467 G T SNP A1CF NM_138932 human genbank 54_36p -1 reviewed intronic c.604+2373 e4+2373 0 - - - no_errors 303 2 0.66 221 0 0 170 24 12.37 229 1 0.43 200 64 24.24 5 10 54329123 54329123 T C SNP ENSG00000201196 ENST00000364326 human ensembl 54_36p 1 novel 3_prime_flanking_region c.*46654 NULL 0.001 - - - no_errors 253 0 0 299 0 0 224 0 0 189 40 17.47 207 0 0 9 10 55990127 55990127 G A SNP PCDH15 NM_033056 human genbank 54_36p -1 reviewed intronic c.92-32484 e2-32484 0 - - - no_errors 95 0 0 96 28 22.58 140 0 0 165 0 0 208 1 0.48 7 10 56286085 56286085 C T SNP PCDH15 ENST00000373957 human ensembl 54_36p -1 known intronic c.1+41131 e0+41131 0.004 - - - no_errors 135 0 0 179 0 0 155 3 1.9 112 26 18.84 163 1 0.61 9 10 56493989 56493989 C G SNP PCDH15 ENST00000373957 human ensembl 54_36p -1 known intronic c.1+102353 e0+102353 0.001 - - - no_errors 69 23 25 193 0 0 180 0 0 184 0 0 191 0 0 6 10 56698159 56698159 G C SNP PCDH15 ENST00000373957 human ensembl 54_36p -1 known intronic c.1-101742 e1-101742 0.001 - - - no_errors 68 19 21.84 146 33 18.44 95 1 1.04 98 0 0 128 2 1.54 4 10 56960415 56960415 G C SNP PCDH15 ENST00000373957 human ensembl 54_36p -1 known intronic c.1+96976 e0+96976 0 - - - no_errors 98 0 0 123 0 0 126 22 14.86 100 23 18.4 128 40 23.81 3 10 57030481 57030481 G T SNP PCDH15 ENST00000373957 human ensembl 54_36p -1 known intronic c.1+26910 e0+26910 0.998 - - - no_errors 79 64 44.76 60 51 45.95 106 0 0 131 0 0 161 12 6.9 4 10 57689541 57689541 T C SNP - - - - - - - - - - - - - - - 149 0 0 296 2 0.67 180 37 17.05 202 1 0.49 157 54 25.59 5 10 57944469 57944469 C T SNP - - - - - - - - - - - - - - - 90 0 0 131 0 0 101 5 4.72 129 0 0 110 26 19.12 8 10 57955358 57955358 T A SNP - - - - - - - - - - - - - - - 161 0 0 197 0 0 105 21 16.67 116 38 24.52 134 32 19.28 3 10 58187546 58187546 C A SNP - - - - - - - - - - - - - - - 105 0 0 75 32 29.91 147 0 0 119 0 0 123 1 0.81 7 10 58639860 58639860 G T SNP - - - - - - - - - - - - - - - 83 13 13.54 136 42 23.6 125 0 0 92 0 0 163 3 1.81 4 10 58963125 58963125 A C SNP ENSG00000218583 ENST00000403728 human ensembl 54_36p 1 known 3_prime_flanking_region c.*19934 NULL 0.004 - - - no_coding_region:pseudogene 131 28 17.61 155 51 24.64 238 1 0.42 206 0 0 206 9 4.19 4 10 59261669 59261669 G C SNP - - - - - - - - - - - - - - - 146 35 19.34 208 53 20.31 174 2 1.14 192 0 0 183 4 2.14 4 10 60728325 60728325 G C SNP FAM13C NM_198215 human genbank 54_36p -1 validated intronic c.507+4242 e5+4242 0.015 - - - no_errors 159 129 44.79 96 65 40.37 240 0 0 206 0 0 179 15 7.73 4 10 62934765 62934765 A G SNP - - - - - - - - - - - - - - - 108 15 12.2 87 18 17.14 108 0 0 112 0 0 111 3 2.63 4 10 66289693 66289693 G C SNP ANXA2P3 NR_001446 human genbank 54_36p 1 provisional 3_prime_flanking_region c.*33053 NULL 0.012 - - - pseudogene 98 0 0 102 0 0 109 0 0 85 22 20.56 139 0 0 9 10 66289971 66289971 T A SNP ANXA2P3 NR_001446 human genbank 54_36p 1 provisional 3_prime_flanking_region c.*33331 NULL 0.985 - - - pseudogene 77 23 23 61 21 25.61 113 1 0.88 146 0 0 127 5 3.79 4 10 66422894 66422894 C T SNP - - - - - - - - - - - - - - - 160 0 0 123 0 0 118 22 15.71 196 0 0 133 42 24 5 10 66554900 66554900 A T SNP ENSG00000219154 ENST00000401862 human ensembl 54_36p -1 known 3_prime_flanking_region c.*44302 NULL 0 - - - no_coding_region:pseudogene 98 0 0 143 32 18.29 136 0 0 115 0 0 151 4 2.58 7 10 67259978 67259978 T A SNP - - - - - - - - - - - - - - - 173 0 0 203 1 0.49 173 27 13.5 180 37 16.97 178 42 19.09 3 10 67522524 67522524 C A SNP CTNNA3 NM_013266 human genbank 54_36p -1 validated intronic c.1977+10397 e13+10397 0.003 - - - no_errors 117 38 24.52 148 41 21.69 171 0 0 224 0 0 194 9 4.43 4 10 70445764 70445764 G C SNP KIAA1279 NM_015634 human genbank 54_36p 1 validated missense c.1452 p.M484I 1 NULL superfamily_SSF48452 - no_errors 211 1 0.47 226 0 0 154 0 0 150 40 21.05 174 0 0 9 10 71255829 71255829 A T SNP COL13A1 NM_005203 human genbank 54_36p 1 reviewed intronic c.364+3629 e2+3629 0.001 - - - no_errors 246 0 0 275 0 0 122 18 12.86 155 0 0 120 34 22.08 5 10 71632452 71632452 C G SNP SAR1A NM_020150 human genbank 54_36p -1 validated 5_prime_flanking_region c.-40775 NULL 0.006 - - - no_errors 97 0 0 123 0 0 99 0 0 68 26 27.66 108 0 0 9 10 73230224 73230224 G T SNP CDH23 NM_022124 human genbank 54_36p 1 reviewed intronic c.7363-175 e52-175 0.001 - - - no_errors 224 0 0 157 0 0 130 0 0 130 0 0 120 39 24.53 8 10 75747164 75747164 G T SNP ADK NM_006721 human genbank 54_36p 1 reviewed intronic c.273+2655 e4+2655 0 - - - no_errors 181 0 0 204 1 0.49 137 29 17.47 148 42 22.11 144 42 22.58 3 10 84237719 84237719 C A SNP NRG3 NM_001010848 human genbank 54_36p 1 validated intronic c.953+129115 e2+129115 0.001 - - - no_errors 97 24 19.83 123 32 20.65 105 0 0 104 0 0 129 2 1.52 4 10 84904764 84904764 G T SNP - - - - - - - - - - - - - - - 106 33 23.74 133 1 0.75 113 0 0 119 0 0 156 0 0 6 10 84909021 84909021 C A SNP - - - - - - - - - - - - - - - 233 0 0 196 47 19.34 220 0 0 232 0 0 216 10 4.42 7 10 85037579 85037579 G A SNP LOC728027 XR_015186 human genbank 54_36p -1 model 3_prime_flanking_region c.*23788 NULL 0 - - - pseudogene 118 22 15.71 194 50 20.49 150 0 0 141 0 0 166 1 0.6 4 10 85385165 85385165 C A SNP LOC728050 XM_001126432 human genbank 54_36p -1 model 3_prime_flanking_region c.*37131 NULL 0.037 - - - no_errors 114 43 27.22 109 35 24.31 160 0 0 164 0 0 197 2 1.01 4 10 86683874 86683874 G A SNP - - - - - - - - - - - - - - - 128 106 45.11 177 160 47.48 146 3 2.01 175 0 0 184 5 2.65 2 10 87497692 87497692 C A SNP GRID1 NM_017551 human genbank 54_36p -1 reviewed intronic c.1234-18341 e9-18341 0.018 - - - no_errors 160 34 17.53 276 77 21.81 152 1 0.65 181 0 0 201 4 1.95 4 10 87785576 87785576 G T SNP GRID1 NM_017551 human genbank 54_36p -1 reviewed intronic c.726+102980 e4+102980 0.002 - - - no_errors 199 0 0 216 0 0 104 19 15.45 94 31 24.8 131 42 24.28 3 10 89525467 89525467 C G SNP ATAD1 NM_032810 human genbank 54_36p -1 provisional intronic c.690+591 e5+591 0.001 - - - no_errors 172 0 0 113 0 0 154 0 0 135 37 21.51 177 0 0 9 10 91253403 91253403 G T SNP SLC16A12 NM_213606 human genbank 54_36p -1 validated intronic c.1+30835 e0+30835 0 - - - no_errors 173 31 15.2 155 48 23.65 137 1 0.72 179 0 0 194 4 2.02 4 10 92437193 92437193 T A SNP ENSG00000197911 ENST00000356117 human ensembl 54_36p -1 novel 3_prime_flanking_region c.*8819 NULL 0 - - - no_coding_region:pseudogene 139 40 22.22 210 0 0 152 0 0 181 0 0 201 0 0 6 10 92678250 92678250 C G SNP ANKRD1 NM_014391 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-7486 NULL 0 - - - no_errors 157 0 0 100 41 29.08 108 0 0 112 0 0 125 3 2.34 7 10 95991906 95991906 G C SNP PLCE1 NM_016341 human genbank 54_36p 1 validated intronic c.2421-3787 e7-3787 0.013 - - - no_errors 184 42 18.58 110 25 18.38 178 1 0.56 205 0 0 178 3 1.66 4 10 96954888 96954888 T C SNP C10orf129 NM_207321 human genbank 54_36p 1 validated intronic c.1-2067 e1-2067 0.959 - - - no_errors 118 26 18.06 124 28 18.42 126 0 0 114 0 0 123 9 6.77 4 10 97714894 97714894 A G SNP LOC100130696 XM_001725099 human genbank 54_36p 1 model intronic c.129-749 e2-749 0.002 - - - no_errors 177 0 0 181 59 24.58 179 0 0 173 0 0 203 3 1.46 7 10 98841741 98841741 G A SNP SLIT1 NM_003061 human genbank 54_36p -1 validated intronic c.414-25908 e5-25908 0.001 - - - no_errors 242 56 18.79 240 0 0 192 0 0 211 1 0.47 231 0 0 6 10 98963266 98963266 C T SNP SLIT1 ENST00000371070 human ensembl 54_36p -1 known intronic c.1+15628 e0+15628 0.02 - - - no_errors 118 90 43.06 97 74 43.27 122 36 22.78 111 41 26.97 150 53 26.11 1 10 101107797 101107797 G C SNP CNNM1 NM_020348 human genbank 54_36p 1 validated intronic c.1717+395 e2+395 0 - - - no_errors 112 0 0 185 0 0 90 1 1.1 89 22 19.64 113 0 0 9 10 102226253 102226253 G A SNP WNT8B NM_003393 human genbank 54_36p 1 reviewed intronic c.69-2546 e2-2546 0.114 - - - no_errors 159 44 21.67 204 0 0 182 0 0 201 0 0 225 0 0 6 10 103185549 103185549 T A SNP BTRC NM_033637 human genbank 54_36p 1 reviewed intronic c.156+5350 e2+5350 0.08 - - - no_errors 130 30 18.75 109 32 22.7 172 3 1.71 209 0 0 195 6 2.99 4 10 103851083 103851083 C A SNP PPRC1 NM_015062 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-31733 NULL 0 - - - no_errors 163 106 39.26 80 69 46.31 197 2 1.01 232 1 0.43 220 10 4.35 2 10 105029604 105029604 T G SNP INA NM_032727 human genbank 54_36p 1 validated intronic c.1065+1581 e1+1581 0 - - - no_errors 139 113 44.84 52 46 46.94 178 4 2.2 214 0 0 217 14 6.06 2 10 108403050 108403050 C G SNP SORCS1 NM_001013031 human genbank 54_36p -1 reviewed intronic c.2304-749 e18-749 0 - - - no_errors 230 1 0.43 278 0 0 197 24 10.86 239 1 0.42 175 51 22.57 5 10 109260503 109260503 G C SNP ENSG00000200079 ENST00000363209 human ensembl 54_36p 1 novel 3_prime_flanking_region c.*49086 NULL 0.992 - - - no_errors 193 0 0 271 0 0 117 0 0 134 17 11.26 124 1 0.8 9 10 109684059 109684059 A C SNP LOC100128304 XM_001718321 human genbank 54_36p -1 model 5_prime_flanking_region c.-18894 NULL 0.001 - - - no_errors 52 54 50.47 102 77 43.02 115 0 0 111 0 0 111 7 5.93 4 10 110011608 110011608 A G SNP ENSG00000217870 ENST00000401516 human ensembl 54_36p 1 known 5_prime_flanking_region c.-34239 NULL 0.021 - - - no_coding_region:pseudogene 175 0 0 150 0 0 143 0 0 121 27 18.12 169 0 0 9 10 110054257 110054257 A G SNP ENSG00000217870 ENST00000401516 human ensembl 54_36p 1 known 3_prime_flanking_region c.*8016 NULL 0.204 - - - no_coding_region:pseudogene 140 0 0 145 0 0 101 29 22.14 155 0 0 126 37 22.7 5 10 110299526 110299526 T A SNP - - - - - - - - - - - - - - - 144 0 0 88 29 24.79 155 0 0 200 0 0 194 10 4.9 7 10 110441149 110441149 A T SNP - - - - - - - - - - - - - - - 145 0 0 111 27 19.57 115 0 0 129 0 0 182 7 3.7 7 10 110505831 110505831 C T SNP - - - - - - - - - - - - - - - 152 0 0 114 0 0 117 0 0 96 29 23.2 146 0 0 9 10 110512707 110512707 C T SNP - - - - - - - - - - - - - - - 203 0 0 178 1 0.56 174 0 0 194 0 0 146 48 24.74 8 10 110710074 110710074 G A SNP ENSG00000222436 ENST00000410504 human ensembl 54_36p -1 novel 5_prime_flanking_region c.-19016 NULL 0.005 - - - no_errors 184 0 0 189 2 1.05 139 24 14.63 163 2 1.21 140 56 28.57 5 10 111440844 111440844 A C SNP LOC100132843 XR_037957 human genbank 54_36p 1 model 3_prime_flanking_region c.*9873 NULL 0.034 - - - pseudogene 116 103 47.03 89 96 51.89 156 3 1.89 143 0 0 165 10 5.71 2 10 117497577 117497577 A G SNP ATRNL1 NM_207303 human genbank 54_36p 1 validated intronic c.3903+20722 e27+20722 0.004 - - - no_errors 174 0 0 238 2 0.83 202 36 15.13 304 0 0 227 57 20 5 10 117941181 117941181 G T SNP GFRA1 NM_005264 human genbank 54_36p -1 reviewed intronic c.433+19952 e4+19952 0 - - - no_errors 118 0 0 131 1 0.76 77 14 15.22 109 22 16.79 138 31 18.34 3 10 118904382 118904382 G T SNP KCNK18 NM_181840 human genbank 54_36p 1 provisional 5_prime_flanking_region c.-42608 NULL 0.001 - - - no_errors 156 0 0 106 0 0 101 0 0 95 17 15.18 158 0 0 9 10 119809535 119809535 C A SNP CASC2 ENST00000360758 human ensembl 54_36p 1 known intronic c.1+7838 e0+7838 0 - - - no_errors 167 36 17.73 235 64 21.4 214 0 0 267 0 0 266 3 1.12 4 10 120345140 120345140 C T SNP PRLHR NM_004248 human genbank 54_36p -1 validated 5_prime_untranslated_region c.-394 NULL 0.009 - - - no_errors 163 0 0 97 0 0 97 9 8.49 101 30 22.9 95 27 22.13 3 10 120608275 120608275 A G SNP LOC729340 XR_039688 human genbank 54_36p -1 model 3_prime_flanking_region c.*13214 NULL 0.019 - - - pseudogene 137 0 0 79 35 30.7 108 0 0 125 0 0 146 6 3.95 7 10 121672136 121672136 G C SNP SEC23IP NM_007190 human genbank 54_36p 1 reviewed intronic c.2121+1650 e12+1650 0 - - - no_errors 117 97 45.33 110 74 40 215 1 0.46 224 1 0.44 232 14 5.69 2 10 123142748 123142748 G C SNP ENSG00000222979 ENST00000411047 human ensembl 54_36p 1 novel 5_prime_flanking_region c.-17672 NULL 0 - - - no_errors 166 48 22.43 117 42 26.42 202 1 0.49 211 0 0 247 9 3.52 4 10 123176990 123176990 C A SNP ENSG00000222979 ENST00000411047 human ensembl 54_36p 1 novel 3_prime_flanking_region c.*16286 NULL 0 - - - no_errors 132 89 40.27 138 91 39.74 159 3 1.85 209 0 0 221 7 3.07 2 10 124594542 124594542 T A SNP CUZD1 NM_022034 human genbank 54_36p -1 provisional intronic c.82+726 e1+726 0 - - - no_errors 164 0 0 102 0 0 101 20 16.53 109 21 16.15 129 31 19.25 3 10 128306852 128306852 T A SNP - - - - - - - - - - - - - - - 195 0 0 103 0 0 110 0 0 105 16 13.22 186 1 0.53 9 10 129930864 129930864 A G SNP - - - - - - - - - - - - - - - 119 32 21.19 112 41 26.8 93 1 1.06 114 0 0 120 3 2.44 4 10 129995611 129995611 G C SNP - - - - - - - - - - - - - - - 148 48 24.49 71 17 19.32 115 0 0 183 0 0 209 8 3.69 4 10 130217114 130217114 C A SNP - - - - - - - - - - - - - - - 271 0 0 135 0 0 192 1 0.52 201 50 19.92 282 0 0 9 10 130230535 130230535 T G SNP - - - - - - - - - - - - - - - 197 0 0 100 0 0 135 17 11.11 136 0 0 183 38 17.19 5 10 130355724 130355724 G T SNP - - - - - - - - - - - - - - - 64 19 22.89 137 39 22.16 170 0 0 162 0 0 197 7 3.43 4 10 131089946 131089946 C T SNP - - - - - - - - - - - - - - - 148 32 17.78 63 17 21.25 163 0 0 187 0 0 228 6 2.56 4 10 132896117 132896117 G T SNP TCERG1L NM_174937 human genbank 54_36p -1 validated intronic c.857-40979 e5-40979 0.096 - - - no_errors 230 0 0 117 0 0 94 14 12.96 116 29 19.86 81 25 23.58 3 10 134354633 134354633 C T SNP INPP5A NM_005539 human genbank 54_36p 1 reviewed intronic c.370+684 e5+684 0.068 - - - no_errors 170 96 35.96 50 51 50.5 132 6 4.35 179 0 0 133 11 7.64 2 11 21127304 21127304 T G SNP NELL1 NM_006157 human genbank 54_36p 1 reviewed intronic c.1426+35468 e13+35468 0.007 - - - no_errors 161 0 0 131 2 1.5 106 24 18.46 143 0 0 111 35 23.97 5 11 21612687 21612687 C T SNP - - - - - - - - - - - - - - - 115 0 0 134 0 0 155 0 0 130 32 19.75 170 0 0 9 11 21728969 21728969 G T SNP - - - - - - - - - - - - - - - 66 19 22.35 93 2 2.11 89 0 0 128 1 0.78 137 0 0 6 11 23115916 23115916 G C SNP - - - - - - - - - - - - - - - 106 2 1.85 166 0 0 166 0 0 157 31 16.32 184 0 0 9 11 23740966 23740966 C T SNP ENSG00000213742 ENST00000396026 human ensembl 54_36p 1 novel 5_prime_flanking_region c.-26454 NULL 0.006 - - - no_coding_region:pseudogene 188 1 0.53 223 0 0 180 4 2.17 257 0 0 145 47 24.48 8 11 40229086 40229086 A C SNP LRRC4C NM_020929 human genbank 54_36p -1 validated intronic c.1+41233 e0+41233 0.926 - - - no_errors 90 37 29.13 61 27 30.68 124 0 0 113 0 0 125 4 3.1 4 11 40432908 40432908 G C SNP - - - - - - - - - - - - - - - 85 0 0 154 1 0.65 120 20 14.29 125 0 0 127 38 23.03 5 11 40628227 40628227 T C SNP - - - - - - - - - - - - - - - 126 0 0 146 0 0 158 0 0 166 0 0 129 44 25.43 8 11 40993183 40993183 T A SNP - - - - - - - - - - - - - - - 72 34 32.08 75 47 38.52 132 1 0.75 154 0 0 133 7 5 2 11 41006427 41006427 G C SNP - - - - - - - - - - - - - - - 65 16 19.75 82 21 20.19 124 0 0 124 0 0 146 1 0.68 4 11 41306602 41306602 C A SNP LOC729901 XM_001717969 human genbank 54_36p 1 model 5_prime_flanking_region c.-27573 NULL 0 - - - no_start_codon:pseudogene 209 72 25.62 207 107 33.97 281 0 0 354 0 0 268 12 4.29 4 11 41595795 41595795 A T SNP - - - - - - - - - - - - - - - 78 25 24.27 102 0 0 107 0 0 112 0 0 144 0 0 6 11 57818048 57818048 C G SNP OR10W1 NM_207374 human genbank 54_36p -1 provisional 5_prime_flanking_region c.-26142 NULL 0.002 - - - no_errors 101 0 0 228 0 0 89 20 18.35 101 31 23.48 111 26 18.98 3 11 59495943 59495943 C G SNP ENSG00000214788 ENST00000398992 human ensembl 54_36p 1 known 3_prime_flanking_region c.*26560 NULL 0.001 - - - no_stop_codon 77 27 25.71 78 21 21.21 80 0 0 92 0 0 140 3 2.07 4 11 61666104 61666104 C G SNP INCENP NM_001040694 human genbank 54_36p 1 validated intronic c.1605+545 e10+545 1 - - - no_errors 212 50 19.08 61 17 21.79 124 1 0.8 171 0 0 138 3 2.13 4 11 81008903 81008903 G A SNP - - - - - - - - - - - - - - - 95 17 15.18 98 21 17.65 145 3 2.03 143 0 0 157 7 4.27 4 11 81013414 81013414 C A SNP - - - - - - - - - - - - - - - 107 40 27.21 150 38 20.21 171 0 0 190 0 0 192 3 1.54 4 11 81013867 81013867 C A SNP - - - - - - - - - - - - - - - 132 39 22.81 148 49 24.87 191 0 0 228 0 0 189 13 6.4 4 11 82237372 82237372 G C SNP PRCP NM_199418 human genbank 54_36p -1 reviewed intronic c.984+367 e7+367 0.001 - - - no_errors 117 0 0 167 0 0 94 10 9.62 89 25 21.93 86 21 19.63 3 11 83285209 83285209 A G SNP DLG2 NM_001364 human genbank 54_36p -1 reviewed intronic c.1182-22030 e11-22030 0.012 - - - no_errors 114 0 0 127 0 0 140 0 0 103 19 15.57 180 0 0 9 11 83652317 83652317 A G SNP DLG2 NM_001364 human genbank 54_36p -1 reviewed intronic c.205-12335 e3-12335 0.002 - - - no_errors 178 0 0 173 0 0 162 0 0 127 28 18.06 173 0 0 9 11 83658548 83658548 A G SNP DLG2 NM_001364 human genbank 54_36p -1 reviewed intronic c.205-18566 e3-18566 0.002 - - - no_errors 201 0 0 196 0 0 164 31 15.9 231 2 0.85 153 52 25.37 5 11 83660465 83660465 T C SNP DLG2 NM_001364 human genbank 54_36p -1 reviewed intronic c.205-20483 e3-20483 0 - - - no_errors 188 1 0.53 215 0 0 136 30 18.07 128 30 18.99 123 49 28.49 3 12 126641560 126641560 G C SNP LOC644489 XM_932212 human genbank 54_36p -1 model 3_prime_flanking_region c.*40544 NULL 0.002 - - - no_errors 167 38 18.45 77 23 23 136 0 0 172 1 0.58 169 5 2.87 4 12 126730170 126730170 C T SNP LOC644489 XM_932212 human genbank 54_36p -1 model 5_prime_flanking_region c.-43715 NULL 0.007 - - - no_errors 158 1 0.63 135 0 0 123 11 8.21 108 0 0 104 24 18.75 5 12 126845541 126845541 G T SNP - - - - - - - - - - - - - - - 129 25 16.23 201 42 17.21 158 1 0.63 172 1 0.58 155 6 3.73 4 12 126853896 126853896 A G SNP - - - - - - - - - - - - - - - 122 0 0 102 0 0 84 0 0 69 15 17.86 97 0 0 9 12 126933980 126933980 T C SNP - - - - - - - - - - - - - - - 257 2 0.77 114 0 0 133 34 20.36 201 42 17.28 162 65 28.63 3 12 127279792 127279792 C A SNP - - - - - - - - - - - - - - - 153 44 22.34 207 75 26.6 111 2 1.77 145 0 0 138 11 7.38 4 12 127478127 127478127 A C SNP - - - - - - - - - - - - - - - 162 1 0.61 104 31 22.96 115 0 0 146 0 0 113 4 3.42 7 12 127553074 127553074 T A SNP - - - - - - - - - - - - - - - 168 0 0 72 16 18.18 90 0 0 124 0 0 103 2 1.89 7 12 127741648 127741648 C A SNP TMEM132C ENST00000315208 human ensembl 54_36p 1 known intronic c.298-2679 e3-2679 0 - - - no_errors 269 0 0 369 0 0 174 0 0 222 0 0 203 50 19.76 8 12 128113143 128113143 C T SNP TMEM132D NM_133448 human genbank 54_36p -1 validated 3_prime_flanking_region c.*11230 NULL 0.004 - - - no_errors 188 1 0.53 146 0 0 100 25 19.84 146 1 0.68 133 44 24.86 5 12 128268516 128268516 C T SNP TMEM132D NM_133448 human genbank 54_36p -1 validated intronic c.1300-8355 e5-8355 0.001 - - - no_errors 127 0 0 120 0 0 78 0 0 72 26 26.53 107 1 0.93 9 12 128320409 128320409 G T SNP TMEM132D NM_133448 human genbank 54_36p -1 validated intronic c.1300-60248 e5-60248 0.001 - - - no_errors 206 0 0 180 39 17.81 122 0 0 121 0 0 178 4 2.2 7 12 128358480 128358480 T A SNP TMEM132D NM_133448 human genbank 54_36p -1 validated intronic c.1299+29652 e4+29652 0 - - - no_errors 104 60 36.59 93 58 38.41 115 1 0.86 175 1 0.57 125 12 8.76 2 12 128550411 128550411 A T SNP TMEM132D NM_133448 human genbank 54_36p -1 validated intronic c.1115+31146 e3+31146 0 - - - no_errors 242 0 0 343 0 0 122 0 0 134 32 19.28 214 1 0.47 9 12 128642204 128642204 G A SNP TMEM132D NM_133448 human genbank 54_36p -1 validated intronic c.969-60501 e3-60501 0.075 - - - no_errors 215 0 0 181 1 0.55 189 0 0 142 25 14.97 206 0 0 9 12 128680715 128680715 T G SNP TMEM132D NM_133448 human genbank 54_36p -1 validated intronic c.968+69593 e2+69593 0 - - - no_errors 270 0 0 189 0 0 187 0 0 158 20 11.17 188 0 0 9 12 128845242 128845242 T C SNP TMEM132D NM_133448 human genbank 54_36p -1 validated intronic c.80-94046 e2-94046 0 - - - no_errors 149 0 0 151 0 0 110 25 18.52 107 0 0 125 32 20.38 5 12 129034081 129034081 A G SNP - - - - - - - - - - - - - - - 255 0 0 228 62 21.38 150 0 0 195 0 0 168 4 2.33 7 12 129547396 129547396 G T SNP RIMBP2 NM_015347 human genbank 54_36p -1 validated intronic c.1+9750 e0+9750 0.003 - - - no_errors 178 41 18.72 81 15 15.46 115 1 0.86 167 0 0 142 8 5.33 4 12 130583256 130583256 G C SNP - - - - - - - - - - - - - - - 187 45 19.31 111 26 18.98 146 0 0 196 0 0 203 3 1.46 4 15 22871365 22871365 G A SNP SNORD116-19 NR_001290 human genbank 54_36p 1 provisional 5_prime_flanking_region c.-11401 NULL 0 - - - no_errors 223 67 23.1 120 29 19.33 145 0 0 192 0 0 271 7 2.52 4 15 23664750 23664750 G T SNP ATP10A NM_024490 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-5414 NULL 0 - - - no_errors 148 0 0 108 0 0 106 0 0 103 21 16.94 175 0 0 9 15 24014359 24014359 C T SNP - - - - - - - - - - - - - - - 111 41 26.97 91 0 0 125 0 0 146 0 0 143 1 0.69 6 15 24276991 24276991 C A SNP - - - - - - - - - - - - - - - 143 0 0 187 0 0 100 19 15.97 157 3 1.88 149 27 15.34 5 15 25783910 25783910 C G SNP OCA2 NM_000275 human genbank 54_36p -1 reviewed intronic c.2244+5985 e20+5985 0.002 - - - no_errors 183 0 0 76 0 0 96 0 0 123 19 13.38 178 0 0 9 15 27129009 27129009 T C SNP APBA2 NM_005503 human genbank 54_36p 1 reviewed intronic c.1-4331 e1-4331 0.002 - - - no_errors 188 0 0 85 0 0 107 13 10.83 138 0 0 166 30 15.31 5 15 27411102 27411102 A T SNP - - - - - - - - - - - - - - - 165 37 18.23 111 40 26.49 149 2 1.32 176 0 0 183 3 1.61 4 15 27787091 27787091 G T SNP TJP1 NM_003257 human genbank 54_36p -1 validated intronic c.4850+964 e25+964 0 - - - no_errors 239 0 0 88 0 0 156 0 0 114 58 33.72 210 0 0 9 16 5214155 5214155 T G SNP ENSG00000221809 ENST00000408882 human ensembl 54_36p -1 novel 3_prime_flanking_region c.*39070 NULL 0 - - - no_errors 233 1 0.43 132 0 0 135 22 14.01 184 26 12.38 185 39 17.33 3 16 5818404 5818404 A T SNP - - - - - - - - - - - - - - - 325 0 0 159 0 0 242 1 0.41 288 57 16.52 257 1 0.39 9 16 5851742 5851742 G T SNP - - - - - - - - - - - - - - - 178 0 0 126 0 0 123 19 13.38 128 38 22.89 160 26 13.98 3 16 5881592 5881592 G A SNP - - - - - - - - - - - - - - - 248 0 0 166 0 0 148 0 0 194 41 17.45 215 0 0 9 16 5903125 5903125 T A SNP - - - - - - - - - - - - - - - 264 0 0 232 0 0 187 0 0 205 39 15.98 272 1 0.36 9 16 5973467 5973467 A T SNP A2BP1 NM_018723 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-1068607 NULL 0.01 - - - no_errors 161 44 21.46 122 35 22.29 123 0 0 174 0 0 189 9 4.55 4 16 6329002 6329002 C A SNP A2BP1 NM_018723 human genbank 54_36p 1 reviewed intronic c.1+21943 e0+21943 0 - - - no_errors 249 0 0 240 0 0 187 0 0 160 35 17.95 235 0 0 9 16 6748701 6748701 A G SNP A2BP1 NM_018723 human genbank 54_36p 1 reviewed intronic c.1+104049 e0+104049 0.08 - - - no_errors 110 27 19.71 176 22 11.11 137 0 0 161 0 0 154 4 2.53 4 16 6836550 6836550 C A SNP A2BP1 NM_018723 human genbank 54_36p 1 reviewed intronic c.1+191898 e0+191898 0.278 - - - no_errors 221 0 0 208 0 0 153 0 0 154 20 11.49 185 0 0 9 16 7318796 7318796 A G SNP A2BP1 NM_018723 human genbank 54_36p 1 reviewed intronic c.28-189354 e2-189354 0 - - - no_errors 325 0 0 477 0 0 235 0 0 244 37 13.17 302 0 0 9 16 7330884 7330884 T C SNP A2BP1 NM_145891 human genbank 54_36p 1 reviewed intronic c.87+7794 e1+7794 1 - - - no_errors 70 43 38.05 50 44 46.81 92 5 5.15 90 0 0 149 8 5.1 2 16 7733510 7733510 T C SNP ENSG00000209555 ENST00000386820 human ensembl 54_36p -1 novel 5_prime_flanking_region c.-16557 NULL 0 - - - pseudogene 267 0 0 183 0 0 183 43 19.03 189 37 16.37 233 60 20.48 3 16 8001212 8001212 T C SNP - - - - - - - - - - - - - - - 276 0 0 241 0 0 210 27 11.39 251 48 16.05 243 73 23.1 3 16 8206373 8206373 T A SNP - - - - - - - - - - - - - - - 102 81 44.02 150 117 43.66 117 1 0.85 155 1 0.64 220 12 5.13 2 16 8384449 8384449 G A SNP - - - - - - - - - - - - - - - 102 81 44.26 166 117 41.34 184 2 1.08 184 0 0 217 14 6.06 2 16 8956415 8956415 C A SNP USP7 NM_003470 human genbank 54_36p -1 validated intronic c.79+8150 e1+8150 0.003 - - - no_errors 105 77 42.31 67 64 48.85 154 2 1.28 190 0 0 171 17 9.04 2 16 9643678 9643678 C A SNP LOC100134139 XM_001717820 human genbank 54_36p 1 model intronic c.226-1738 e2-1738 0.51 - - - no_start_codon:pseudogene:no_stop_codon 131 0 0 191 0 0 158 1 0.63 169 0 0 170 39 18.66 8 16 11075432 11075432 G C SNP CLEC16A NM_015226 human genbank 54_36p 1 validated intronic c.2116+13052 e19+13052 0 - - - no_errors 289 0 0 290 0 0 227 0 0 201 42 17.28 300 0 0 9 16 13038906 13038906 G A SNP - - - - - - - - - - - - - - - 186 45 19.48 247 89 26.49 172 1 0.58 197 0 0 185 3 1.6 4 16 17118848 17118848 T A SNP XYLT1 NM_022166 human genbank 54_36p -1 validated intronic c.2557+156 e11+156 0 - - - no_errors 206 56 21.29 246 78 24.07 164 0 0 208 0 0 275 6 2.13 4 16 17168566 17168566 C T SNP XYLT1 NM_022166 human genbank 54_36p -1 validated intronic c.1290-8299 e6-8299 0.002 - - - no_errors 161 42 20.69 69 20 22.47 146 1 0.68 160 0 0 200 7 3.38 4 16 17454144 17454144 T A SNP XYLT1 NM_022166 human genbank 54_36p -1 validated intronic c.363+17648 e1+17648 0.057 - - - no_errors 120 82 40.59 94 70 42.68 193 0 0 212 0 0 252 9 3.45 4 16 17828151 17828151 C A SNP - - - - - - - - - - - - - - - 148 113 43.3 84 67 44.37 205 1 0.48 248 0 0 223 16 6.69 2 16 17888791 17888791 G A SNP - - - - - - - - - - - - - - - 111 0 0 100 0 0 110 0 0 105 20 16 124 0 0 9 16 18760365 18760365 A G SNP SMG1 NM_015092 human genbank 54_36p -1 reviewed intronic c.6696+23 e41+23 0 - - - no_errors 154 34 18.09 93 20 17.7 147 1 0.67 181 0 0 158 2 1.24 4 16 20150769 20150769 T C SNP LOC100129329 XR_039325 human genbank 54_36p -1 model 3_prime_flanking_region c.*6975 NULL 0.001 - - - pseudogene 224 51 18.48 413 69 14.32 252 0 0 298 0 0 323 9 2.71 4 16 22560185 22560185 T C SNP - - - - - - - - - - - - - - - 345 95 21.59 339 93 21.53 313 4 1.26 377 0 0 432 14 3.13 4 16 24089332 24089332 G A SNP PRKCB NM_002738 human genbank 54_36p 1 reviewed intronic c.1240-1760 e11-1760 0 - - - no_errors 198 0 0 133 40 23.12 136 1 0.73 172 0 0 215 4 1.83 7 16 25573603 25573603 T A SNP HS3ST4 ENST00000331351 human ensembl 54_36p 1 known 5_prime_flanking_region c.-37637 NULL 0.002 - - - no_errors 193 54 21.86 145 46 23.96 160 1 0.62 207 0 0 230 8 3.36 4 16 26054565 26054565 A G SNP HS3ST4 ENST00000331351 human ensembl 54_36p 1 known missense c.866 p.N289S 1 "HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors 313 0 0 264 1 0.38 242 30 10.99 256 49 16.01 213 53 19.92 3 16 26519321 26519321 A G SNP ENSG00000221481 ENST00000408554 human ensembl 54_36p 1 novel 5_prime_flanking_region c.-46379 NULL 0 - - - no_errors 209 51 19.62 75 22 22.68 157 0 0 208 0 0 240 9 3.61 4 16 31462404 31462404 T C SNP C16orf58 NM_022744 human genbank 54_36p -1 predicted 5_prime_flanking_region c.-35209 NULL 0 - - - no_errors 284 0 0 130 32 19.75 178 0 0 221 0 0 225 4 1.75 7 16 34450096 34450096 A T SNP - - - - - - - - - - - - - - - 118 0 0 226 0 0 181 0 0 158 0 0 180 43 19.28 8 18 1101401 1101401 A G SNP - - - - - - - - - - - - - - - 143 43 23.12 154 39 20.21 242 0 0 299 0 0 263 10 3.66 4 18 2114715 2114715 G C SNP - - - - - - - - - - - - - - - 102 103 50.24 283 240 45.89 212 1 0.47 227 0 0 217 9 3.98 2 18 3602475 3602475 C G SNP DLGAP1 NM_004746 human genbank 54_36p -1 provisional intronic c.1592-30229 e5-30229 0.003 - - - no_errors 244 76 23.75 134 0 0 242 2 0.82 258 0 0 247 0 0 6 18 4110314 4110314 G C SNP - - - - - - - - - - - - - - - 198 0 0 207 0 0 148 21 12.43 238 2 0.83 209 50 19.31 5 18 5862587 5862587 A G SNP TTMA NM_001080209 human genbank 54_36p -1 predicted 3_prime_flanking_region c.*17610 NULL 0.001 - - - no_errors 104 63 37.5 65 47 41.96 133 1 0.75 177 0 0 189 10 5.03 2 18 7066925 7066925 C T SNP LAMA1 NM_005559 human genbank 54_36p -1 validated intronic c.345+3049 e3+3049 0.002 - - - no_errors 232 0 0 210 48 18.6 252 2 0.79 274 0 0 302 10 3.19 7 18 7340525 7340525 C A SNP ENSG00000212626 ENST00000391324 human ensembl 54_36p -1 novel 5_prime_flanking_region c.-49374 NULL 0.008 - - - no_errors 173 0 0 166 50 23.15 117 0 0 156 0 0 158 4 2.47 7 18 8554742 8554742 A T SNP RAB12 NM_001025300 human genbank 54_36p 1 validated 5_prime_flanking_region c.-44984 NULL 0.004 - - - no_errors 136 38 21.84 75 23 23.47 138 0 0 151 0 0 155 2 1.27 4 18 10177961 10177961 C T SNP FLJ34223 XM_001721408 human genbank 54_36p -1 model 5_prime_flanking_region c.-47026 NULL 0 - - - no_start_codon:pseudogene:no_stop_codon 357 0 0 323 0 0 301 2 0.65 313 79 19.85 344 0 0 9 18 11582759 11582759 C T SNP AMAC1L1 XM_928960 human genbank 54_36p 1 model 5_prime_flanking_region c.-16836 NULL 0.608 - - - no_errors 212 0 0 104 0 0 113 16 12.4 189 0 0 179 28 13.46 5 18 12905622 12905622 C T SNP SEH1L NM_001013437 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-32499 NULL 0.03 - - - no_errors 148 0 0 112 0 0 119 25 17.36 119 18 13.14 127 19 13.01 3 18 13079146 13079146 T A SNP CEP192 NM_032142 human genbank 54_36p 1 validated intronic c.4206-309 e21-309 0.119 - - - no_errors 161 35 17.77 153 55 26.44 204 3 1.45 261 1 0.38 252 3 1.17 4 18 14740390 14740390 C G SNP ANKRD30B ENST00000358984 human ensembl 54_36p 1 known intronic c.221+1751 e1+1751 0.057 - - - no_errors 98 0 0 80 0 0 165 0 0 179 41 18.55 243 0 0 9 18 14844752 14844752 C A SNP ENSG00000206323 ENST00000360364 human ensembl 54_36p 1 known 5_prime_flanking_region c.-6920 NULL 0 - - - no_errors 114 72 38.71 53 36 40.45 161 1 0.62 235 0 0 241 8 3.21 2 18 15045444 15045444 A G SNP LOC100131500 XM_001723630 human genbank 54_36p -1 model 3_prime_flanking_region c.*1714 NULL 0 - - - no_errors 85 0 0 109 0 0 71 10 12.35 60 15 20 96 25 20.66 3 18 52907898 52907898 G C SNP - - - - - - - - - - - - - - - 182 0 0 140 37 20.79 111 0 0 104 0 0 168 6 3.45 7 18 54062878 54062878 T C SNP NEDD4L NM_015277 human genbank 54_36p 1 validated intronic c.123-761 e3-761 0.001 - - - no_errors 329 0 0 188 57 23.27 285 0 0 293 0 0 326 10 2.97 7 18 54242870 54242870 C G SNP MIRN122 ENST00000385044 human ensembl 54_36p 1 known 5_prime_flanking_region c.-26416 NULL 0 - - - no_errors 273 64 18.93 248 0 0 213 0 0 239 0 0 283 0 0 6 19 34750995 34750995 G T SNP POP4 NM_006627 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-38071 NULL 0 - - - no_errors 157 120 43.17 53 38 41.76 186 5 2.62 212 0 0 215 4 1.82 2 19 35400145 35400145 A G SNP - - - - - - - - - - - - - - - 136 105 43.57 76 47 38.21 135 2 1.46 169 0 0 196 15 7.11 2 19 35552353 35552353 C T SNP ZNF536 NM_014717 human genbank 54_36p 1 provisional 5_prime_flanking_region c.-73957 NULL 0 - - - no_errors 230 0 0 102 1 0.97 151 22 12.72 146 32 17.98 163 55 25.23 3 19 35618611 35618611 C T SNP ZNF536 NM_014717 human genbank 54_36p 1 provisional intronic c.1-7697 e1-7697 0.185 - - - no_errors 168 52 23.64 132 45 25.42 87 0 0 152 0 0 174 5 2.79 4 19 35635072 35635072 C T SNP ZNF536 NM_014717 human genbank 54_36p 1 provisional intronic c.2170+6593 e1+6593 0.008 - - - no_errors 114 103 47.47 57 45 44.12 128 1 0.78 156 0 0 166 13 7.26 2 19 36351696 36351696 T A SNP - - - - - - - - - - - - - - - 155 0 0 103 0 0 67 18 21.18 86 20 18.87 101 40 28.17 3 19 36621094 36621094 C G SNP - - - - - - - - - - - - - - - 177 0 0 91 0 0 105 0 0 105 29 21.64 158 0 0 9 19 36821124 36821124 C T SNP - - - - - - - - - - - - - - - 193 45 18.91 80 18 18.37 139 0 0 188 0 0 185 4 2.12 4 19 39059284 39059284 G A SNP - - - - - - - - - - - - - - - 222 0 0 124 1 0.8 153 0 0 153 38 19.9 199 0 0 9 19 40094764 40094764 A G SNP ZNF30 NM_001099437 human genbank 54_36p 1 validated 5_prime_flanking_region c.-17928 NULL 0 - - - no_errors 114 83 42.13 101 92 47.67 112 0 0 143 2 1.38 141 7 4.7 4 19 42129322 42129322 C G SNP ZNF568 NM_198539 human genbank 54_36p 1 validated intronic c.359-2932 e5-2932 0.037 - - - no_errors 166 0 0 246 0 0 159 0 0 129 26 16.77 166 1 0.6 9 19 42312834 42312834 G A SNP ZNF420 ENST00000304239 human ensembl 54_36p 1 known silent c.1467 p.T489 0 NULL "HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF48695,superfamily_SSF57667" - no_errors 180 46 20.35 138 37 21.14 164 0 0 198 0 0 199 9 4.31 4 19 44578501 44578501 G A SNP MED29 NM_017592 human genbank 54_36p 1 provisional intronic c.424-1436 e4-1436 0 - - - no_errors 210 0 0 189 0 0 96 0 0 110 27 19.71 128 0 0 9 19 44652253 44652253 C T SNP SUPT5H NM_003169 human genbank 54_36p 1 validated intronic c.1375-346 e16-346 0 - - - no_errors 234 0 0 183 1 0.54 111 27 19.57 138 38 21.59 85 45 34.62 3 19 44778597 44778597 T C SNP LGALS13 NM_013268 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-6452 NULL 0 - - - no_errors 129 104 44.64 124 105 45.85 126 33 20.75 178 30 14.42 146 79 35.11 1 19 44991316 44991316 G A SNP DYRK1B NM_004714 human genbank 54_36p -1 reviewed 3_prime_flanking_region c.*16879 NULL 0.058 - - - no_errors 161 40 19.9 131 40 23.39 110 0 0 143 0 0 146 4 2.65 4 19 46786035 46786035 G T SNP ENSG00000210066 ENST00000387331 human ensembl 54_36p -1 novel 5_prime_flanking_region c.-22617 NULL 0.011 - - - pseudogene 225 46 16.97 102 39 27.46 127 0 0 224 1 0.44 161 7 4.17 4 19 57034973 57034973 G A SNP ZNF649 NM_023074 human genbank 54_36p -1 provisional 3_prime_flanking_region c.*50710 NULL 0.027 - - - no_errors 169 0 0 143 0 0 113 13 10.32 143 2 1.38 125 36 22.36 5 19 57610720 57610720 C A SNP ZNF528 NM_032423 human genbank 54_36p 1 validated missense c.803 p.P268H 0.948 superfamily_C2H2 and C2HC zinc fingers "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors 234 0 0 124 0 0 114 0 0 149 32 17.49 219 0 0 9 19 57897877 57897877 G C SNP ZNF83 NR_003936 human genbank 54_36p -1 validated 5_prime_flanking_region c.-12179 NULL 0.183 - - - no_errors 288 0 0 383 1 0.26 177 24 11.88 187 64 25.5 184 43 18.94 3 19 58326020 58326020 A G SNP ZNF415 NM_018355 human genbank 54_36p -1 validated intronic c.1+1901 e0+1901 0 - - - no_errors 126 113 47.08 183 165 47.41 167 0 0 211 0 0 167 11 6.18 4 19 58483172 58483172 T G SNP ZNF677 NM_182609 human genbank 54_36p -1 provisional 5_prime_flanking_region c.-36557 NULL 0.002 - - - no_errors 169 49 22.48 149 37 19.79 186 0 0 178 0 0 188 8 4.08 4 19 58850716 58850716 G T SNP MIRN520F ENST00000384824 human ensembl 54_36p 1 known 5_prime_flanking_region c.-26509 NULL 0 - - - no_errors 177 45 20.18 145 0 0 191 0 0 210 0 0 155 0 0 6 19 59464954 59464954 C A SNP LILRB3 NM_001081450 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-46294 NULL 0.705 - - - no_errors 319 0 0 211 0 0 264 0 0 210 63 23.08 305 1 0.33 9 19 59741948 59741948 A T SNP KIR3DX1 ENST00000221567 human ensembl 54_36p 1 known intronic c.999+902 e6+902 0.208 - - - no_errors 274 0 0 181 63 25.82 144 0 0 233 0 0 198 7 3.38 7 19 61142880 61142880 G T SNP NLRP8 NM_176811 human genbank 54_36p 1 provisional 5_prime_flanking_region c.-8201 NULL 0.001 - - - no_errors 106 31 22.63 121 36 22.93 76 0 0 126 0 0 124 7 5.34 4 20 14276029 14276029 A C SNP MACROD2 NM_080676 human genbank 54_36p 1 validated intronic c.272-146096 e4-146096 0.017 - - - no_errors 133 0 0 118 0 0 187 1 0.53 171 45 20.83 225 0 0 9 20 14463421 14463421 A G SNP MACROD2 NM_080676 human genbank 54_36p 1 validated intronic c.301+41267 e4+41267 0.001 - - - no_errors 147 68 31.63 307 98 24.2 316 2 0.63 313 1 0.32 294 2 0.68 4 20 14753799 14753799 T C SNP MACROD2 NM_080676 human genbank 54_36p 1 validated intronic c.418+140194 e5+140194 0.005 - - - no_errors 127 0 0 93 14 13.08 93 0 0 117 0 0 123 4 3.15 7 20 14809183 14809183 T A SNP MACROD2 NM_080676 human genbank 54_36p 1 validated intronic c.418+195578 e5+195578 0.91 - - - no_errors 181 0 0 253 0 0 201 0 0 167 42 20.1 195 0 0 9 20 14833014 14833014 T A SNP MACROD2 NM_080676 human genbank 54_36p 1 validated intronic c.418+219409 e5+219409 0.003 - - - no_errors 75 15 16.67 62 16 20.51 84 0 0 111 0 0 116 3 2.52 4 20 25429155 25429155 G A SNP NLP NM_025176 human genbank 54_36p -1 validated intronic c.1032+321 e7+321 0.001 - - - no_errors 207 0 0 75 0 0 101 0 0 110 28 20.14 114 0 0 9 20 25706058 25706058 G C SNP FAM182B ENST00000389261 human ensembl 54_36p -1 known intronic c.152-2086 e3-2086 0 - - - no_errors 213 0 0 110 0 0 143 1 0.69 188 0 0 165 20 10.81 8 20 26062570 26062570 C T SNP C20orf191 ENST00000356439 human ensembl 54_36p -1 known 5_prime_flanking_region c.-19948 NULL 0 - - - no_errors 82 68 45.33 59 46 43.81 110 2 1.79 121 0 0 109 8 6.72 2