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 brain.rcnt.llr3_ref brain.rcnt.llr3_var brain.rcnt.llr3_VAF kidney.rcnt.llr3_ref kidney.rcnt.llr3_var kidney.rcnt.llr3_VAF liver.rcnt.llr3_ref liver.rcnt.llr3_var liver.rcnt.llr3_VAF lung.rcnt.llr3_ref lung.rcnt.llr3_var lung.rcnt.llr3_VAF rib.rcnt.llr3_ref rib.rcnt.llr3_var rib.rcnt.llr3_VAF tumor.rcnt.llr3_ref tumor.rcnt.llr3_var tumor.rcnt.llr3_VAF cluster 1 2866642 2866642 G A SNP ENSG00000177133 ENST00000321399 human ensembl 54_36p -1 known intronic c.447+8950 e1+8950 0.005 - - - no_errors 131 96 42.11 169 77 31.17 110 79 41.8 114 57 33.33 102 85 45.45 125 42 25.15 1 1 2984058 2984058 G A SNP PRDM16 NM_022114.2 human genbank 54_36p 1 reviewed intronic c.37+8338 e1+8338 0 - - - no_errors 211 1 0.47 239 43 15.25 135 87 39.19 176 1 0.56 212 0 0 205 0 0 3 1 3814510 3814510 A C SNP C1orf174 NM_207356.2 human genbank 54_36p -1 validated 5_prime_flanking_region c.-7900 NULL 0 - - - no_errors 189 0 0 242 1 0.41 185 0 0 150 3 1.96 82 58 41.43 170 0 0 6 1 4293949 4293949 G T SNP - - - - - - - - - - - - - - - 85 43 33.59 138 38 21.59 70 64 47.76 69 27 28.12 51 45 46.88 100 45 31.03 1 1 4367117 4367117 A C SNP - - - - - - - - - - - - - - - 206 0 0 227 0 0 170 25 12.82 173 0 0 179 0 0 187 0 0 9 1 5200289 5200289 G C SNP - - - - - - - - - - - - - - - 127 84 39.81 216 1 0.46 172 0 0 95 61 39.1 143 0 0 171 0 0 4 1 5307845 5307845 G T SNP LOC645466 XR_039534.2 human genbank 54_36p -1 model 3_prime_flanking_region c.*40696 NULL 0.095 - - - pseudogene 97 54 35.76 131 33 20.12 78 50 39.06 76 37 32.74 64 42 39.62 98 23 19.01 1 1 5461427 5461427 C A SNP - - - - - - - - - - - - - - - 140 0 0 186 1 0.53 147 1 0.68 125 6 4.58 86 61 41.5 116 0 0 6 1 6078316 6078316 T G SNP KCNAB2 NM_003636.2 human genbank 54_36p 1 reviewed intronic c.804+45 e12+45 0 - - - no_errors 62 30 32.61 124 0 0 75 0 0 56 35 38.46 81 0 0 91 0 0 4 1 10176897 10176897 G A SNP KIF1B NM_015074.3 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-38077 NULL 0 - - - no_errors 192 74 27.82 230 59 20.42 100 67 39.88 119 74 38.34 134 75 35.89 138 39 21.91 1 1 11799962 11799962 G A SNP CLCN6 NM_001286.2 human genbank 54_36p 1 reviewed intronic c.279+638 e4+638 0.002 - - - no_errors 203 0 0 262 0 0 153 33 17.65 134 0 0 184 0 0 158 0 0 9 1 12659643 12659643 C G SNP AADACL3 NM_001103170.1 human genbank 54_36p 1 validated 5_prime_flanking_region c.-42424 NULL 0 - - - no_errors 254 0 0 228 54 19.15 221 0 0 177 0 0 189 0 0 171 0 0 8 1 13969946 13969946 G A SNP PRDM2 NM_012231.2 human genbank 54_36p 1 reviewed intronic c.512-2214 e6-2214 0 - - - no_errors 141 47 25 236 0 0 192 0 0 116 62 34.83 192 0 0 157 0 0 4 1 14012851 14012851 C G SNP PRDM2 NM_012231.2 human genbank 54_36p 1 reviewed intronic c.5037-2658 e8-2658 0 - - - no_errors 122 0 0 106 29 21.48 41 50 54.95 109 1 0.91 98 0 0 105 0 0 5 1 14978938 14978938 G C SNP KIAA1026 NM_201628.2 human genbank 54_36p 1 validated intronic c.226+180632 e1+180632 0.001 - - - no_errors 208 0 0 279 0 0 194 0 0 152 0 0 155 30 16.22 149 0 0 6 1 15161769 15161769 C T SNP KIAA1026 NM_201628.2 human genbank 54_36p 1 validated intronic c.418+1811 e2+1811 0.05 - - - no_errors 113 0 0 114 34 22.97 112 0 0 102 1 0.97 82 0 0 76 0 0 8 1 15514080 15514080 A G SNP FHAD1 ENST00000375997 human ensembl 54_36p 1 known intronic c.289-1381 e4-1381 0.023 - - - no_errors 191 1 0.52 179 49 21.49 87 75 46.3 165 0 0 148 0 0 182 0 0 3 1 15589662 15589662 A G SNP FHAD1 ENST00000358897 human ensembl 54_36p 1 known intronic c.1687-6718 e13-6718 0 - - - no_errors 155 0 0 183 0 0 141 0 0 125 2 1.57 78 34 30.36 147 0 0 6 1 17802653 17802653 G A SNP ARHGEF10L NM_018125.2 human genbank 54_36p 1 validated missense c.413 p.S138N 0.994 NULL "HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),superfamily_WD40 repeat-like,superfamily_PH domain-like" - no_errors 95 50 34.48 143 47 24.74 57 59 50.86 70 52 42.62 64 47 42.34 75 29 27.88 1 1 18536630 18536630 G C SNP IGSF21 NM_032880.2 human genbank 54_36p 1 provisional intronic c.424+2539 e4+2539 0.01 - - - no_errors 119 0 0 169 0 0 128 0 0 98 0 0 65 37 36.27 121 0 0 6 1 18928257 18928257 T G SNP PAX7 NM_002584.1 human genbank 54_36p 1 reviewed intronic c.1156-6456 e8-6456 0 - - - no_errors 174 0 0 273 0 0 156 29 15.68 160 1 0.62 158 0 0 151 0 0 9 1 20764200 20764200 G C SNP CDA NM_001785.2 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-24010 NULL 0.028 - - - no_errors 173 1 0.57 157 41 20.71 73 48 39.34 145 0 0 132 0 0 127 0 0 3 1 22697642 22697642 C T SNP ZBTB40 NM_001083621.1 human genbank 54_36p 1 validated intronic c.832-2930 e3-2930 1 - - - no_errors 129 0 0 188 0 0 114 0 0 111 4 3.48 68 27 28.42 113 0 0 6 1 23629267 23629267 C A SNP ASAP3 NM_017707.1 human genbank 54_36p -1 reviewed intronic c.2638-257 e25-257 0.112 - - - no_errors 142 55 27.64 237 53 18.28 80 69 46 85 57 40.14 122 59 32.6 101 35 25.55 1 1 23657742 23657742 G T SNP ASAP3 NM_017707.1 human genbank 54_36p -1 reviewed intronic c.130-2468 e2-2468 0.001 - - - no_errors 278 104 27.23 503 0 0 312 1 0.32 159 76 32.34 316 0 0 268 0 0 4 1 24267368 24267368 C A SNP MYOM3 NM_152372.3 human genbank 54_36p -1 validated missense c.3227 p.G1076V 1 "HMMSmart_SM00409,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,PatternScan_EF_HAND_1,superfamily_Immunoglobulin" - no_errors 136 0 0 160 0 0 145 0 0 97 0 0 79 44 35.48 107 1 0.93 6 1 24281964 24281964 A T SNP MYOM3 NM_152372.3 human genbank 54_36p -1 validated intronic c.1971-173 e16-173 0 - - - no_errors 270 1 0.37 229 74 24.42 121 95 43.98 183 0 0 223 1 0.45 200 0 0 3 1 25329446 25329446 G C SNP ENSG00000172823 ENST00000310210 human ensembl 54_36p -1 known 5_prime_flanking_region c.-4914 NULL 0.083 - - - no_coding_region:pseudogene 266 0 0 367 0 0 187 32 14.61 219 0 0 224 0 0 162 0 0 9 1 25335187 25335187 T A SNP ENSG00000172823 ENST00000310210 human ensembl 54_36p -1 known 5_prime_flanking_region c.-10655 NULL 0.011 - - - no_coding_region:pseudogene 102 52 33.77 156 52 24.88 73 62 45.93 78 52 39.69 73 61 45.52 99 31 23.85 1 1 25927527 25927527 C T SNP MAN1C1 NM_020379.2 human genbank 54_36p 1 validated intronic c.638-18219 e3-18219 0 - - - no_errors 192 1 0.52 261 0 0 243 0 0 196 0 0 169 23 11.98 186 0 0 6 1 26747401 26747401 C T SNP RPS6KA1 NM_001006665.1 human genbank 54_36p 1 reviewed intronic c.334+1053 e3+1053 0 - - - no_errors 191 0 0 258 0 0 113 32 21.92 172 0 0 158 0 0 143 0 0 9 1 28295035 28295035 A C SNP ENSG00000189015 ENST00000312583 human ensembl 54_36p -1 novel 5_prime_untranslated_region c.-28295035 NULL 1 - - - no_coding_region:pseudogene 205 5 2.38 201 42 17.28 127 73 36.5 138 5 3.5 115 70 37.63 159 0 0 2 1 29727073 29727073 G T SNP ENSG00000219178 ENST00000404255 human ensembl 54_36p -1 known 5_prime_flanking_region c.-31081 NULL 0 - - - no_coding_region:pseudogene 136 0 0 169 0 0 155 0 0 65 31 32.29 118 1 0.84 146 0 0 7 1 30270899 30270899 G C SNP - - - - - - - - - - - - - - - 325 0 0 383 0 0 264 0 0 234 5 2.09 158 104 39.54 233 0 0 6 1 30752765 30752765 G C SNP - - - - - - - - - - - - - - - 237 2 0.84 218 0 0 153 50 24.51 161 0 0 156 0 0 185 0 0 9 1 31256719 31256719 G C SNP PUM1 NM_001020658.1 human genbank 54_36p -1 reviewed intronic c.433-4183 e3-4183 0.001 - - - no_errors 192 80 29.41 252 56 18.12 144 83 36.56 121 63 34.24 135 65 32.5 148 44 22.92 1 1 31936651 31936651 A C SNP COL16A1 NM_001856.3 human genbank 54_36p -1 reviewed intronic c.390+20 e4+20 0 - - - no_errors 196 0 0 228 0 0 117 36 23.53 186 0 0 146 0 0 151 0 0 9 1 31969094 31969094 G A SNP BAI2 NM_001703.2 human genbank 54_36p -1 reviewed missense c.4274 p.P1425L 0.991 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008" - no_errors 87 44 33.59 111 32 22.38 76 30 28.3 63 31 32.63 49 33 40.24 72 28 28 1 1 33685697 33685697 G C SNP ZSCAN20 NM_145238.3 human genbank 54_36p 1 validated 5_prime_flanking_region c.-31780 NULL 0 - - - no_errors 279 0 0 283 70 19.77 129 108 45.57 223 0 0 229 0 0 198 0 0 5 1 34147858 34147858 A C SNP CSMD2 NM_052896.3 human genbank 54_36p -1 validated intronic c.800+8424 e5+8424 0.001 - - - no_errors 206 0 0 270 0 0 172 25 12.69 170 0 0 217 0 0 206 0 0 9 1 34262945 34262945 G A SNP CSMD2 NM_052896.3 human genbank 54_36p -1 validated intronic c.397+7837 e3+7837 0.004 - - - no_errors 173 0 0 187 0 0 99 37 27.21 112 0 0 146 0 0 133 0 0 9 1 34410048 34410048 C T SNP C1orf94 ENST00000373374 human ensembl 54_36p 1 known intronic c.1+4689 e0+4689 0.975 - - - no_errors 121 74 37.56 229 66 22.37 104 84 44.68 109 65 37.36 102 61 37.42 137 34 19.88 1 1 34418559 34418559 T C SNP C1orf94 NM_032884.1 human genbank 54_36p 1 validated intronic c.1+2262 e0+2262 0.041 - - - no_errors 132 1 0.75 119 31 20.53 53 45 45.45 129 0 0 98 0 0 92 0 0 3 1 34845686 34845686 G A SNP - - - - - - - - - - - - - - - 211 0 0 271 0 0 181 1 0.55 169 3 1.74 98 69 41.32 183 0 0 6 1 35125075 35125075 G A SNP DLGAP3 NM_001080418.1 human genbank 54_36p -1 provisional intronic c.1387-602 e4-602 0.001 - - - no_errors 299 175 36.92 383 117 23.4 156 121 43.68 207 118 36.31 235 149 38.8 170 82 32.54 1 1 37143587 37143587 C A SNP GRIK3 NM_000831.3 human genbank 54_36p -1 reviewed intronic c.116-14303 e2-14303 0.998 - - - no_errors 213 96 31.07 315 96 23.36 126 84 40 124 70 36.08 138 89 39.21 146 45 23.56 1 1 37146830 37146830 C T SNP GRIK3 NM_000831.3 human genbank 54_36p -1 reviewed intronic c.116-17546 e2-17546 1 - - - no_errors 85 41 32.54 141 44 23.66 74 50 40.32 48 39 44.83 67 39 36.79 99 20 16.81 1 1 39593016 39593016 G T SNP MACF1 NM_033044.3 human genbank 54_36p 1 reviewed intronic c.6744+1526 e8+1526 0.002 - - - no_errors 187 1 0.53 202 0 0 156 0 0 123 3 2.38 105 34 24.46 146 0 0 6 1 40603735 40603735 T A SNP COL9A2 NM_001852.3 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-48279 NULL 0.001 - - - no_errors 129 0 0 156 1 0.64 141 0 0 104 2 1.89 83 44 34.65 93 0 0 6 1 42406647 42406647 C A SNP GUCA2A NM_033553.2 human genbank 54_36p -1 validated 5_prime_flanking_region c.-3677 NULL 0 - - - no_errors 153 0 0 129 31 19.25 67 40 37.38 104 0 0 106 0 0 123 0 0 5 1 44507311 44507311 T C SNP ERI3 NM_024066.1 human genbank 54_36p -1 validated intronic c.831+15783 e7+15783 0 - - - no_errors 152 80 34.48 210 43 16.93 134 81 37.67 110 53 32.52 112 55 32.93 155 56 26.54 1 1 45855628 45855628 G T SNP NASP NM_172164.2 human genbank 54_36p 1 reviewed intronic c.2164-94 e14-94 0.007 - - - no_errors 231 0 0 275 0 0 156 37 19.07 153 0 0 197 0 0 147 0 0 9 1 47795503 47795503 C T SNP ENSG00000216700 ENST00000406441 human ensembl 54_36p 1 known 3_prime_flanking_region c.*6491 NULL 0.102 - - - no_coding_region:pseudogene 116 61 34.27 184 48 20.69 91 72 44.17 78 58 42.65 109 55 33.33 110 37 25.17 1 1 48261724 48261724 C T SNP LOC388630 XM_371250.2 human genbank 54_36p -1 model 5_prime_flanking_region c.-25885 NULL 0.016 - - - no_errors 234 0 0 254 0 0 192 0 0 173 4 2.26 97 69 41.57 209 0 0 6 1 49111131 49111131 G T SNP AGBL4 NM_032785.3 human genbank 54_36p -1 validated intronic c.40-5642 e2-5642 0.001 - - - no_errors 197 40 16.88 273 1 0.36 199 0 0 158 0 0 164 0 0 179 0 0 10 1 49210849 49210849 G A SNP AGBL4 NM_032785.3 human genbank 54_36p -1 validated intronic c.39+72994 e1+72994 0 - - - no_errors 189 39 17.11 284 0 0 191 0 0 145 0 0 174 0 0 182 0 0 10 1 49633137 49633137 G C SNP AGBL4 ENST00000371839 human ensembl 54_36p -1 known intronic c.283-149014 e4-149014 0.032 - - - no_errors 326 0 0 271 72 20.99 135 97 41.81 212 0 0 214 0 0 226 0 0 5 1 50820201 50820201 A T SNP FAF1 NM_007051.2 human genbank 54_36p -1 reviewed intronic c.1113+677 e12+677 0.55 - - - no_errors 102 58 36.02 145 44 23.28 79 61 43.57 66 37 35.92 91 49 35 67 31 31.63 1 1 50946188 50946188 G C SNP FAF1 NM_007051.2 human genbank 54_36p -1 reviewed intronic c.552-2037 e7-2037 0.001 - - - no_errors 160 0 0 158 55 25.82 126 0 0 127 0 0 130 0 0 92 2 2.13 8 1 50948218 50948218 C T SNP FAF1 NM_007051.2 human genbank 54_36p -1 reviewed intronic c.552-4067 e7-4067 0.008 - - - no_errors 260 0 0 273 1 0.36 160 35 17.86 154 0 0 186 1 0.53 183 0 0 9 1 51486990 51486990 C A SNP RNF11 NM_014372.4 human genbank 54_36p 1 reviewed intronic c.123+11851 e1+11851 0 - - - no_errors 227 0 0 219 0 0 165 0 0 141 1 0.7 92 59 39.07 139 0 0 6 1 52065812 52065812 C A SNP NRD1 NM_002525.1 human genbank 54_36p -1 validated intronic c.1144+244 e7+244 0.004 - - - no_errors 217 1 0.46 265 0 0 169 0 0 128 0 0 117 63 35 167 0 0 6 1 55614612 55614612 G T SNP ENSG00000218685 ENST00000406484 human ensembl 54_36p -1 known 5_prime_flanking_region c.-2991 NULL 0.002 - - - no_coding_region:pseudogene 154 71 31.56 236 44 15.71 90 60 40 95 41 30.15 111 67 37.64 129 45 25.86 1 1 55895291 55895291 A G SNP - - - - - - - - - - - - - - - 348 0 0 364 0 0 266 0 0 263 0 0 237 31 11.57 196 0 0 6 1 56623876 56623876 G A SNP - - - - - - - - - - - - - - - 174 1 0.57 195 64 24.71 85 76 47.2 150 4 2.58 104 61 36.97 131 0 0 2 1 58312966 58312966 T A SNP DAB1 NM_021080.3 human genbank 54_36p -1 reviewed intronic c.1+175534 e0+175534 0.05 - - - no_errors 255 0 0 225 61 21.33 219 0 0 204 0 0 195 0 0 184 0 0 8 1 58771777 58771777 T A SNP OMA1 NM_145243.3 human genbank 54_36p -1 provisional intronic c.1011+436 e4+436 0.442 - - - no_errors 178 2 1.11 161 46 22.22 57 73 56.15 108 1 0.92 129 0 0 138 0 0 3 1 58812365 58812365 T A SNP OMA1 NM_145243.3 human genbank 54_36p -1 provisional 5_prime_flanking_region c.-34811 NULL 0 - - - no_errors 211 102 32.59 320 75 18.94 187 132 41.25 158 90 36.14 157 98 38.43 208 65 23.72 1 1 59173150 59173150 G T SNP LOC645757 XM_933122.1 human genbank 54_36p -1 model 5_prime_flanking_region c.-38127 NULL 0 - - - no_errors 155 102 39.69 226 54 19.29 131 109 45.42 127 81 38.76 123 94 43.32 121 59 32.78 1 1 59281345 59281345 T C SNP LOC391044 XR_017596.2 human genbank 54_36p 1 model 3_prime_flanking_region c.*42591 NULL 0 - - - pseudogene 190 1 0.52 197 49 19.84 104 51 32.9 183 0 0 165 0 0 152 0 0 3 1 59395273 59395273 C G SNP - - - - - - - - - - - - - - - 106 49 31.41 128 25 16.34 50 65 56.52 74 39 34.51 79 34 30.09 69 30 30.3 1 1 59606236 59606236 G C SNP FGGY NM_018291.1 human genbank 54_36p 1 validated intronic c.130-10773 e2-10773 0.521 - - - no_errors 347 126 26.64 415 104 20 193 166 46.11 206 98 32.24 213 141 39.72 229 68 22.9 1 1 60186271 60186271 G T SNP CYP2J2 NM_000775.2 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-21265 NULL 0.039 - - - no_errors 165 92 35.66 209 54 20.53 116 87 42.86 90 52 36.62 117 56 32.37 112 47 29.56 1 1 61295653 61295653 G A SNP NFIA ENST00000371191 human ensembl 54_36p 1 known intronic c.97-30756 e2-30756 0.622 - - - no_errors 205 0 0 213 0 0 111 45 28.66 110 0 0 134 0 0 114 0 0 9 1 61374740 61374740 A C SNP NFIA NM_005595.3 human genbank 54_36p 1 reviewed intronic c.559+47800 e2+47800 1 - - - no_errors 157 67 29.91 169 50 22.83 102 70 40.7 111 56 33.53 93 63 40.38 108 42 28 1 1 61454579 61454579 T C SNP NFIA NM_005595.3 human genbank 54_36p 1 reviewed intronic c.560-61201 e3-61201 0.001 - - - no_errors 231 0 0 247 0 0 210 0 0 164 5 2.96 101 49 32.67 159 0 0 6 1 62947849 62947849 C T SNP DOCK7 NM_033407.2 human genbank 54_36p -1 validated 5_prime_flanking_region c.-21326 NULL 0.002 - - - no_errors 234 2 0.85 194 60 23.62 88 70 44.3 156 0 0 163 0 0 158 0 0 3 1 63860983 63860983 G A SNP PGM1 NM_002633.2 human genbank 54_36p 1 provisional intronic c.247-6701 e2-6701 0.001 - - - no_errors 269 0 0 199 57 22.27 127 73 36.5 167 6 3.47 117 66 36.07 189 3 1.56 2 1 64441504 64441504 G T SNP UBE2U NM_152489.1 human genbank 54_36p 1 provisional 5_prime_flanking_region c.-818 NULL 0.001 - - - no_errors 265 4 1.49 242 72 22.86 127 104 45.02 229 1 0.43 139 75 35.05 205 0 0 2 1 65668049 65668049 A C SNP LEPR NM_002303.1 human genbank 54_36p 1 validated intronic c.1+4400 e0+4400 0 - - - no_errors 199 0 0 166 29 14.87 100 54 35.06 145 5 3.33 92 53 36.55 149 0 0 2 1 66675643 66675643 C T SNP - - - - - - - - - - - - - - - 107 41 27.7 122 19 13.48 69 41 37.27 61 30 32.97 63 25 28.41 71 18 20.22 1 1 66684006 66684006 C A SNP - - - - - - - - - - - - - - - 197 0 0 220 1 0.45 161 0 0 143 3 2.05 93 38 28.79 156 0 0 6 1 67009131 67009131 C A SNP TCTEX1D1 NM_152665.1 human genbank 54_36p 1 provisional intronic c.211+382 e2+382 0.053 - - - no_errors 375 0 0 442 3 0.67 260 32 10.92 244 2 0.81 296 0 0 286 1 0.35 9 1 69288072 69288072 A C SNP - - - - - - - - - - - - - - - 255 0 0 264 0 0 146 26 15.12 160 0 0 170 0 0 180 0 0 9 1 69771032 69771032 G C SNP LRRC7 ENST00000310961 human ensembl 54_36p 1 known 5_prime_flanking_region c.-183457 NULL 0.006 - - - no_errors 333 0 0 345 0 0 226 35 13.41 220 0 0 252 0 0 233 0 0 9 1 70014881 70014881 C G SNP LRRC7 NM_020794.2 human genbank 54_36p 1 validated intronic c.190-15433 e2-15433 0.033 - - - no_errors 183 0 0 210 54 20.45 214 0 0 144 0 0 169 0 0 171 0 0 8 1 71240949 71240949 C T SNP PTGER3 NM_000957.2 human genbank 54_36p -1 reviewed intronic c.1077+9627 e2+9627 0 - - - no_errors 230 0 0 274 0 0 171 1 0.58 180 2 1.09 129 55 29.89 139 0 0 6 1 71881803 71881803 C G SNP NEGR1 NM_173808.2 human genbank 54_36p -1 validated intronic c.668-32386 e5-32386 0.001 - - - no_errors 197 0 0 271 0 0 137 24 14.91 120 0 0 162 0 0 153 0 0 9 1 72348627 72348627 G C SNP NEGR1 NM_173808.2 human genbank 54_36p -1 validated intronic c.176+171963 e1+171963 0.168 - - - no_errors 118 49 29.34 165 40 19.51 88 56 38.89 74 41 35.65 72 41 36.28 92 29 23.97 1 1 72405199 72405199 C T SNP NEGR1 NM_173808.2 human genbank 54_36p -1 validated intronic c.176+115391 e1+115391 0.005 - - - no_errors 262 128 32.82 375 114 23.31 154 132 46.15 196 87 30.63 196 105 34.77 170 55 24.34 1 1 72822982 72822982 C G SNP - - - - - - - - - - - - - - - 128 37 22.42 140 0 0 102 0 0 114 0 0 101 0 0 113 0 0 10 1 73952156 73952156 T A SNP ENSG00000200601 ENST00000363731 human ensembl 54_36p -1 novel 3_prime_flanking_region c.*35623 NULL 0.013 - - - no_errors 347 0 0 351 0 0 243 41 14.39 216 0 0 234 0 0 211 0 0 9 1 74240020 74240020 T G SNP LRRIQ3 NM_001105659.1 human genbank 54_36p -1 inferred 3_prime_flanking_region c.*25065 NULL 0.009 - - - no_errors 225 1 0.44 225 57 20.14 112 106 48.62 187 0 0 210 0 0 228 0 0 3 1 75016452 75016452 A T SNP CRYZ NM_001889.1 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-53359 NULL 0.998 - - - no_errors 274 0 0 303 3 0.98 234 0 0 179 2 1.1 122 58 32.22 175 0 0 6 1 75383214 75383214 T C SNP LHX8 NM_001001933.1 human genbank 54_36p 1 validated intronic c.714+993 e6+993 0.002 - - - no_errors 145 67 31.6 204 56 21.54 89 100 52.91 103 58 36.02 111 77 40.96 128 55 30.05 1 1 75465843 75465843 C A SNP SLC44A5 NM_152697.1 human genbank 54_36p -1 validated intronic c.985+156 e12+156 0.252 - - - no_errors 232 2 0.85 263 51 16.24 106 72 40.45 187 1 0.53 207 0 0 186 1 0.53 3 1 76492623 76492623 C G SNP ST6GALNAC3 NM_152996.1 human genbank 54_36p 1 provisional intronic c.19-59455 e2-59455 0.997 - - - no_errors 375 83 18.04 470 0 0 372 0 0 319 0 0 331 0 0 299 0 0 10 1 76627049 76627049 G C SNP ST6GALNAC3 NM_152996.1 human genbank 54_36p 1 provisional intronic c.214-23232 e3-23232 0.001 - - - no_errors 274 2 0.72 241 55 18.58 136 105 43.57 200 1 0.5 126 62 32.98 209 1 0.48 2 1 76645903 76645903 G C SNP ST6GALNAC3 NM_152996.1 human genbank 54_36p 1 provisional intronic c.214-4378 e3-4378 0.001 - - - no_errors 209 0 0 284 0 0 217 0 0 153 1 0.65 103 61 37.2 169 1 0.59 6 1 77000685 77000685 G T SNP LOC100133118 XM_001719352.1 human genbank 54_36p -1 model 5_prime_flanking_region c.-36701 NULL 0.156 - - - no_errors 156 86 35.54 201 49 19.6 131 83 38.79 116 54 31.58 128 72 36 152 49 24.38 1 1 77613234 77613234 A T SNP AK5 NM_174858.2 human genbank 54_36p 1 reviewed intronic c.891+34393 e6+34393 0.003 - - - no_errors 129 55 29.89 162 40 19.8 93 60 39.22 79 43 35.25 73 34 31.78 94 36 27.69 1 1 79175800 79175800 C T SNP ELTD1 NM_022159.3 human genbank 54_36p -1 validated intronic c.760+280 e6+280 0.023 - - - no_errors 260 0 0 301 0 0 229 0 0 173 3 1.7 155 58 27.23 220 0 0 6 1 79782783 79782783 A C SNP ADH5P2 ENST00000402790 human ensembl 54_36p 1 known 3_prime_flanking_region c.*22307 NULL 0 - - - no_coding_region:pseudogene 250 0 0 300 0 0 186 0 0 171 0 0 112 76 40.43 174 1 0.57 6 1 80531792 80531792 G C SNP ENSG00000218484 ENST00000402916 human ensembl 54_36p 1 known 3_prime_flanking_region c.*9549 NULL 0.99 - - - no_coding_region:pseudogene 264 0 0 286 0 0 224 0 0 126 56 30.6 195 0 0 208 0 0 7 1 81737245 81737245 C G SNP LPHN2 ENST00000370725 human ensembl 54_36p 1 known intronic c.1+53883 e0+53883 0.989 - - - no_errors 182 1 0.55 257 0 0 151 40 20.94 147 0 0 171 0 0 153 0 0 9 1 81746027 81746027 A C SNP LPHN2 ENST00000370725 human ensembl 54_36p 1 known intronic c.1+62665 e0+62665 0.07 - - - no_errors 224 2 0.88 187 67 26.38 98 63 39.13 165 0 0 160 0 0 192 0 0 3 1 81903009 81903009 C A SNP LPHN2 ENST00000370725 human ensembl 54_36p 1 known intronic c.1+83756 e0+83756 0 - - - no_errors 159 0 0 141 35 19.77 111 0 0 115 0 0 111 0 0 95 0 0 8 1 82206699 82206699 C G SNP LPHN2 NM_012302.2 human genbank 54_36p 1 reviewed intronic c.2472+228 e11+228 0 - - - no_errors 241 0 0 212 60 21.98 113 74 39.57 150 0 0 170 0 0 158 0 0 5 1 82352086 82352086 C G SNP - - - - - - - - - - - - - - - 198 110 34.27 274 65 18.73 99 102 49.28 154 83 34.16 162 73 30.29 150 54 25.84 1 1 83148267 83148267 G A SNP - - - - - - - - - - - - - - - 216 1 0.46 210 64 23.36 101 68 40.24 135 1 0.74 127 66 34.2 164 0 0 2 1 86142745 86142745 A G SNP COL24A1 NM_152890.5 human genbank 54_36p -1 validated intronic c.2778+2720 e28+2720 0.016 - - - no_errors 232 0 0 246 0 0 192 27 12.33 148 0 0 181 0 0 162 0 0 9 1 86233044 86233044 C A SNP COL24A1 NM_152890.5 human genbank 54_36p -1 validated intronic c.2311-7119 e20-7119 0 - - - no_errors 86 62 41.89 154 35 18.52 79 47 37.3 59 30 33.71 66 54 45 95 27 22.13 1 1 87222665 87222665 G A SNP HS2ST1 NM_012262.1 human genbank 54_36p 1 reviewed intronic c.124+69234 e1+69234 0.001 - - - no_errors 201 0 0 249 0 0 189 0 0 157 0 0 134 63 31.98 169 0 0 6 1 88012472 88012472 C G SNP - - - - - - - - - - - - - - - 141 64 31.22 262 0 0 220 0 0 113 46 28.93 174 0 0 182 0 0 4 1 88704682 88704682 G A SNP ENSG00000222435 ENST00000410503 human ensembl 54_36p -1 novel 3_prime_flanking_region c.*11420 NULL 0.033 - - - no_errors 188 89 32.13 240 83 25.7 133 105 44.12 138 59 29.95 148 81 35.37 121 74 37.95 1 1 90973618 90973618 C G SNP BARHL2 NM_020063.1 human genbank 54_36p -1 validated 5_prime_flanking_region c.-18278 NULL 0.048 - - - no_errors 294 0 0 398 0 0 239 33 12.09 275 0 0 251 0 0 243 0 0 9 1 91070565 91070565 G C SNP LOC149351 XR_041994.1 human genbank 54_36p -1 model intronic c.NULL NULL 0.991 - - - no_errors 196 79 28.73 353 0 0 256 0 0 130 68 34.34 251 0 0 221 0 0 4 1 93820691 93820691 C A SNP BCAR3 NM_003567.2 human genbank 54_36p -1 reviewed missense c.1441 p.D481Y 0.275 superfamily_Ras GEF "HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00147,superfamily_Ras GEF" - no_errors 131 0 0 165 0 0 114 0 0 105 0 0 65 39 37.5 113 0 0 6 1 93854947 93854947 G C SNP BCAR3 NM_003567.2 human genbank 54_36p -1 reviewed intronic c.358-24409 e3-24409 0 - - - no_errors 78 41 34.45 178 0 0 110 0 0 63 36 36 94 0 0 115 0 0 4 1 94229729 94229729 T A SNP ABCA4 NM_000350.2 human genbank 54_36p -1 reviewed 3_prime_flanking_region c.*1652 NULL 0.047 - - - no_errors 302 1 0.33 370 0 0 226 74 24.67 255 0 0 242 0 0 249 0 0 9 1 94515716 94515716 G A SNP ARHGAP29 NM_004815.3 human genbank 54_36p -1 validated 5_prime_flanking_region c.-45961 NULL 0 - - - no_errors 145 2 1.36 219 0 0 124 25 16.78 129 0 0 168 0 0 128 0 0 9 1 95654758 95654758 T G SNP - - - - - - - - - - - - - - - 151 60 28.44 175 52 22.81 108 87 44.62 87 57 39.58 67 47 40.87 101 34 25.19 1 1 97051849 97051849 G A SNP PTBP2 NM_021190.2 human genbank 54_36p 1 reviewed 3_prime_untranslated_region c.*300 NULL 1 - - - no_errors 179 84 31.94 295 68 18.73 127 108 45.96 111 68 37.99 139 91 39.57 170 55 24.44 1 1 98075740 98075740 T A SNP DPYD NM_000110.3 human genbank 54_36p -1 reviewed intronic c.151-9400 e3-9400 1 - - - no_errors 225 2 0.88 268 0 0 125 54 30.17 138 0 0 164 0 0 141 0 0 9 1 98616638 98616638 C T SNP ENSG00000221777 ENST00000408850 human ensembl 54_36p 1 novel 3_prime_flanking_region c.*4995 NULL 0.763 - - - no_errors 151 70 31.67 234 70 22.95 140 106 43.09 134 67 33.33 103 78 43.09 127 44 25.73 1 1 100350285 100350285 C G SNP SASS6 NM_194292.1 human genbank 54_36p -1 validated intronic c.670-1658 e8-1658 0.001 - - - no_errors 243 0 0 340 0 0 160 27 14.44 189 0 0 216 0 0 181 0 0 9 1 100596975 100596975 G C SNP CDC14A NM_033312.3 human genbank 54_36p 1 reviewed intronic c.140+4979 e2+4979 0.084 - - - no_errors 234 117 33.33 334 64 16.08 144 124 46.1 150 66 30.56 160 115 41.82 128 66 34.02 1 1 102357816 102357816 T C SNP - - - - - - - - - - - - - - - 184 110 37.41 271 69 20.23 153 105 40.7 144 74 33.94 178 66 27.05 167 61 26.75 1 1 104919770 104919770 A C SNP - - - - - - - - - - - - - - - 109 68 38.2 148 44 22.92 65 58 47.15 70 45 39.13 93 52 35.86 95 38 28.57 1 1 105239364 105239364 C T SNP - - - - - - - - - - - - - - - 160 0 0 197 0 0 142 0 0 112 2 1.75 83 42 33.6 111 0 0 6 1 105379245 105379245 T A SNP - - - - - - - - - - - - - - - 260 3 1.14 237 80 25.24 91 87 48.88 176 0 0 157 0 0 137 0 0 3 1 105479711 105479711 C T SNP - - - - - - - - - - - - - - - 147 69 31.94 191 69 26.54 85 63 42.57 69 33 32.35 117 58 33.14 107 41 27.52 1 1 105751148 105751148 T C SNP ENSG00000220792 ENST00000403010 human ensembl 54_36p 1 known 5_prime_flanking_region c.-26991 NULL 0.001 - - - no_coding_region:pseudogene 108 51 31.87 165 51 23.61 85 82 49.1 76 38 33.33 98 54 35.29 104 22 17.46 1 1 105779592 105779592 C G SNP ENSG00000220792 ENST00000403010 human ensembl 54_36p 1 known 3_prime_flanking_region c.*626 NULL 0.999 - - - no_coding_region:pseudogene 210 0 0 243 1 0.41 126 27 17.65 128 0 0 162 0 0 145 0 0 9 1 105976500 105976500 C T SNP - - - - - - - - - - - - - - - 157 74 31.9 195 47 19.34 99 85 46.2 88 44 33.33 96 58 37.66 134 26 16.25 1 1 105993905 105993905 G C SNP ENSG00000218199 ENST00000405367 human ensembl 54_36p 1 known 5_prime_flanking_region c.-48279 NULL 0 - - - no_coding_region:pseudogene 344 0 0 379 0 0 267 0 0 236 0 0 165 68 29.18 280 1 0.35 6 1 106429293 106429293 G A SNP LOC126987 XR_016153.1 human genbank 54_36p -1 model 5_prime_flanking_region c.-1348 NULL 0 - - - no_errors 194 92 32.06 241 84 25.85 118 130 52.42 114 45 28.3 123 81 39.71 128 56 30.27 1 1 106490664 106490664 A C SNP - - - - - - - - - - - - - - - 305 0 0 336 0 0 215 44 16.99 189 0 0 233 0 0 209 0 0 9 1 107451172 107451172 G A SNP NTNG1 NM_014917.1 human genbank 54_36p 1 provisional 5_prime_flanking_region c.-41567 NULL 0 - - - no_errors 120 0 0 150 35 18.92 71 47 39.83 92 4 4.17 79 30 27.52 113 0 0 2 1 108455372 108455372 C T SNP SLC25A24 NM_013386.3 human genbank 54_36p -1 validated 3_prime_flanking_region c.*25426 NULL 0 - - - no_errors 181 0 0 233 0 0 199 0 0 154 3 1.91 107 46 30.07 162 1 0.61 6 1 109262628 109262628 G A SNP GPSM2 NM_013296.4 human genbank 54_36p 1 validated intronic c.1243-130 e11-130 0.011 - - - no_errors 169 76 31.02 249 53 17.55 132 65 32.99 114 51 30.91 112 78 41.05 128 35 21.47 1 1 109742485 109742485 G C SNP SORT1 NM_002959.4 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-448 NULL 0 - - - no_errors 116 49 29.7 138 44 24.18 85 58 40.56 59 53 47.32 84 43 33.86 97 45 31.69 1 1 110640188 110640188 C T SNP RBM15 NM_022768.4 human genbank 54_36p 1 validated 5_prime_flanking_region c.-43363 NULL 0.023 - - - no_errors 216 0 0 234 0 0 193 0 0 130 2 1.52 109 71 39.44 175 0 0 6 1 111238905 111238905 A G SNP CD53 NM_000560.3 human genbank 54_36p 1 reviewed intronic c.328-200 e4-200 0 - - - no_errors 234 0 0 327 0 0 222 0 0 185 2 1.07 120 67 35.83 231 0 0 6 1 111243855 111243855 G C SNP CD53 NM_000560.3 human genbank 54_36p 1 reviewed 3_prime_untranslated_region c.*515 NULL 0.016 - - - no_errors 148 82 35.65 223 64 22.3 105 71 40.34 125 52 29.38 124 72 36.73 109 47 29.94 1 1 111729230 111729230 G A SNP ENSG00000218053 ENST00000402873 human ensembl 54_36p -1 known intronic c.NULL NULL 0 - - - no_coding_region:pseudogene 244 0 0 298 2 0.67 205 0 0 192 0 0 170 60 26.09 210 0 0 6 1 114141754 114141754 C G SNP RSBN1 NM_018364.3 human genbank 54_36p -1 validated missense c.1131 p.M377I 1 NULL NULL - no_errors 136 93 40.61 240 63 20.79 127 81 38.94 124 64 34.04 125 71 36.22 122 66 35.11 1 1 114219566 114219566 C T SNP HIPK1 ENST00000361587 human ensembl 54_36p 1 known intronic c.1+16262 e0+16262 0.007 - - - no_errors 193 3 1.53 195 65 25 82 80 49.38 165 0 0 165 0 0 135 0 0 3 1 114435427 114435427 C T SNP SYT6 NM_205848.2 human genbank 54_36p -1 validated 3_prime_untranslated_region c.*2504 NULL 0 - - - no_errors 207 0 0 218 0 0 186 1 0.53 161 1 0.62 127 50 28.09 143 0 0 6 1 116184351 116184351 G T SNP NHLH2 ENST00000369506 human ensembl 54_36p -1 known 5_prime_untranslated_region c.-1835 NULL 0.474 - - - no_errors 173 0 0 210 0 0 132 22 14.29 99 0 0 153 0 0 120 0 0 9 2 112081674 112081674 G A SNP - - - - - - - - - - - - - - - 285 3 1.04 265 79 22.97 76 91 54.17 209 4 1.88 142 81 36.32 217 0 0 2 2 112148096 112148096 C A SNP - - - - - - - - - - - - - - - 196 2 1.01 238 0 0 143 20 12.27 157 0 0 171 0 0 141 0 0 9 3 141540851 141540851 C G SNP CLSTN2 NM_022131.2 human genbank 54_36p 1 validated intronic c.233-64310 e3-64310 0.056 - - - no_errors 398 158 28.42 511 111 17.85 300 177 37.11 292 111 27.54 352 120 25.37 298 107 26.42 1 3 141541946 141541946 C G SNP CLSTN2 NM_022131.2 human genbank 54_36p 1 validated intronic c.233-63215 e3-63215 0 - - - no_errors 149 43 22.4 190 45 19.15 115 56 32.56 101 40 28.37 138 48 25.81 128 35 21.47 1 3 178790327 178790327 C G SNP ENSG00000200288 ENST00000363418 human ensembl 54_36p -1 novel 3_prime_flanking_region c.*34437 NULL 0.002 - - - no_errors 188 2 1.05 192 53 21.54 106 92 46.46 155 4 2.52 125 55 30.56 200 0 0 2 3 179010668 179010668 C T SNP - - - - - - - - - - - - - - - 115 75 39.47 238 62 20.67 124 94 43.12 106 48 31.17 122 73 37.44 126 50 28.25 1 3 179526416 179526416 T C SNP - - - - - - - - - - - - - - - 140 0 0 141 43 23.37 153 0 0 105 1 0.93 130 0 0 154 0 0 8 3 181190420 181190420 T G SNP PEX5L NM_016559.1 human genbank 54_36p -1 provisional intronic c.22-18273 e2-18273 0.001 - - - no_errors 200 0 0 252 0 0 143 32 18.29 132 0 0 150 0 0 160 0 0 9 3 183270834 183270834 T A SNP - - - - - - - - - - - - - - - 86 57 39.86 173 52 23.11 87 80 47.9 95 31 24.6 84 57 40.43 83 39 31.97 1 3 183672363 183672363 C A SNP LOC100132918 XR_042313.1 human genbank 54_36p -1 model 5_prime_flanking_region c.-10809 NULL 0.004 - - - pseudogene 240 2 0.82 224 48 17.65 142 103 42.04 178 0 0 199 0 0 211 0 0 3 3 183939925 183939925 A G SNP - - - - - - - - - - - - - - - 168 78 31.71 295 0 0 213 0 0 116 53 31.36 196 0 0 196 0 0 4 3 184422096 184422096 C T SNP MCF2L2 NM_015078.2 human genbank 54_36p -1 validated intronic c.2302-1690 e21-1690 0 - - - no_errors 166 77 31.69 216 66 23.4 118 105 47.09 109 67 38.07 98 84 46.15 138 57 29.08 1 3 185485452 185485452 C T SNP ECE2 NM_014693.2 human genbank 54_36p 1 validated missense c.1367 p.A456V 0.981 "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" "HMMPfam_Peptidase_M13_N,HMMPfam_Methyltransf_11,HMMPfam_Peptidase_M13,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Metalloproteases (""zincins"") catalytic domain" - no_errors 122 0 0 107 34 23.94 137 0 0 90 0 0 87 0 0 110 0 0 8 3 185957865 185957865 C A SNP MAGEF1 NM_022149.4 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-45562 NULL 0.001 - - - no_errors 111 0 0 134 0 0 120 0 0 92 2 2.13 67 55 45.08 99 1 1 6 3 186689735 186689735 C T SNP MAP3K13 NM_004721.3 human genbank 54_36p 1 reviewed 3_prime_flanking_region c.*6797 NULL 0.001 - - - no_errors 164 69 29.61 236 54 18.62 127 86 40.19 118 64 35.16 129 71 35.5 151 50 24.88 1 3 187486758 187486758 C T SNP DGKG NM_001346.1 human genbank 54_36p -1 reviewed intronic c.545-1566 e6-1566 0.017 - - - no_errors 155 0 0 193 0 0 120 21 14.89 107 0 0 134 0 0 134 0 0 9 3 187702250 187702250 C T SNP CRYGS NM_017541.2 human genbank 54_36p -1 reviewed 3_prime_flanking_region c.*36929 NULL 0 - - - no_errors 129 0 0 146 0 0 160 0 0 101 0 0 75 39 34.21 133 0 0 6 3 188480934 188480934 G T SNP MASP1 NM_139125.1 human genbank 54_36p -1 reviewed intronic c.237+5373 e2+5373 0.001 - - - no_errors 291 1 0.34 456 2 0.44 226 45 16.61 258 0 0 308 0 0 237 1 0.42 9 3 190153999 190153999 C G SNP - - - - - - - - - - - - - - - 108 0 0 124 28 18.3 58 38 39.58 78 0 0 96 0 0 128 0 0 5 3 190602791 190602791 G A SNP - - - - - - - - - - - - - - - 139 57 28.93 178 47 20.89 96 84 46.67 93 43 31.62 89 62 41.06 127 41 24.4 1 3 191029472 191029472 C A SNP TP63 NM_003722.1 human genbank 54_36p 1 reviewed intronic c.579+20463 e4+20463 0 - - - no_errors 154 83 35.02 293 0 0 234 0 0 133 64 32.49 219 0 0 167 0 0 4 3 191483297 191483297 G T SNP CLDN1 NM_021101.3 human genbank 54_36p -1 reviewed 3_prime_flanking_region c.*25463 NULL 0.002 - - - no_errors 202 77 27.6 261 62 19.2 123 95 43.58 141 76 34.86 122 75 38.07 142 56 28.28 1 3 191648442 191648442 G C SNP TMEM207 NM_207316.1 human genbank 54_36p -1 provisional intronic c.76-132 e2-132 0.001 - - - no_errors 205 0 0 224 0 0 176 0 0 138 0 0 78 40 33.9 158 0 0 6 3 193844821 193844821 C T SNP FGF12 NM_004113.4 human genbank 54_36p -1 reviewed intronic c.13+82843 e1+82843 0 - - - no_errors 210 0 0 207 69 24.91 222 0 0 160 0 0 172 0 0 177 0 0 8 3 196174967 196174967 C T SNP - - - - - - - - - - - - - - - 167 0 0 233 1 0.43 127 32 20.13 150 0 0 129 0 0 153 0 0 9 3 197642331 197642331 A G SNP UBXN7 NM_015562.1 human genbank 54_36p -1 validated intronic c.73+1264 e1+1264 0.091 - - - no_errors 153 0 0 156 0 0 138 0 0 109 0 0 66 38 36.54 97 0 0 6 3 198534921 198534921 G C SNP DLG1 NM_004087.1 human genbank 54_36p -1 validated 5_prime_flanking_region c.-26449 NULL 0.018 - - - no_errors 193 86 30.82 271 51 15.74 129 104 44.64 113 59 34.3 148 73 33.03 135 69 33.82 1 4 8990687 8990687 A C SNP LOC100133128 XM_001720802.1 human genbank 54_36p 1 model 5_prime_flanking_region c.-19341 NULL 0 - - - no_errors 410 1 0.24 475 0 0 335 0 0 275 3 1.08 231 78 25.24 221 0 0 6 4 9053068 9053068 A T SNP DEFB131 NM_001040448.2 human genbank 54_36p 1 validated 5_prime_flanking_region c.-2290 NULL 0.006 - - - no_errors 440 1 0.23 543 1 0.18 220 110 33.23 319 0 0 354 0 0 304 0 0 9 5 51897782 51897782 T C SNP - - - - - - - - - - - - - - - 108 45 29.41 203 0 0 144 0 0 87 42 32.56 100 1 0.98 120 0 0 4 5 51939810 51939810 T G SNP - - - - - - - - - - - - - - - 166 0 0 181 0 0 139 21 13.12 113 0 0 136 0 0 134 0 0 9 5 52005691 52005691 G T SNP - - - - - - - - - - - - - - - 321 0 0 384 0 0 303 1 0.33 211 1 0.47 162 74 31.36 238 0 0 6 5 52646559 52646559 G T SNP - - - - - - - - - - - - - - - 129 60 31.75 234 0 0 172 0 0 79 38 32.48 136 0 0 122 0 0 4 5 77741526 77741526 T C SNP SCAMP1 ENST00000339292 human ensembl 54_36p 1 known intronic c.136-5574 e3-5574 0.003 - - - no_stop_codon 129 74 36.45 172 51 22.87 103 75 42.13 93 29 23.77 96 71 42.51 128 30 18.99 1 5 81305602 81305602 A C SNP ATG10 NM_031482.1 human genbank 54_36p 1 validated intronic c.1+1721 e0+1721 0.004 - - - no_errors 258 1 0.39 223 51 18.55 127 113 47.08 174 0 0 190 0 0 206 0 0 3 5 84621724 84621724 G A SNP - - - - - - - - - - - - - - - 99 48 32.65 141 37 20.79 87 68 43.59 67 25 27.17 67 45 40.18 95 36 27.48 1 5 84856901 84856901 A T SNP LOC645181 XR_017382.2 human genbank 54_36p 1 model 5_prime_flanking_region c.-24073 NULL 0 - - - pseudogene 132 53 28.65 200 44 18.03 114 90 44.12 69 63 47.73 118 57 32.57 145 39 21.2 1 5 88152359 88152359 C T SNP MEF2C NM_002397.1 human genbank 54_36p -1 validated intronic c.54+2949 e1+2949 0 - - - no_errors 157 75 32.05 293 1 0.34 215 0 0 123 58 32.04 233 0 0 171 0 0 4 5 88441860 88441860 T C SNP - - - - - - - - - - - - - - - 200 105 34.43 241 72 23 105 74 41.34 128 69 34.85 146 81 35.68 119 37 23.72 1 5 88564993 88564993 A T SNP - - - - - - - - - - - - - - - 182 0 0 214 0 0 151 0 0 140 0 0 115 38 24.84 135 0 0 6 5 88576328 88576328 A C SNP - - - - - - - - - - - - - - - 134 0 0 189 0 0 97 29 23.02 98 0 0 114 0 0 116 0 0 9 5 88981104 88981104 C T SNP - - - - - - - - - - - - - - - 153 68 30.77 195 58 22.92 109 56 33.73 108 49 31.21 112 60 34.88 108 34 23.94 1 5 91103592 91103592 A C SNP - - - - - - - - - - - - - - - 214 105 32.92 320 92 22.33 151 94 38.37 147 83 36.09 137 116 45.85 165 70 29.79 1 5 91219445 91219445 C T SNP - - - - - - - - - - - - - - - 185 74 28.57 264 67 20.24 99 101 50.5 112 66 37.08 147 70 32.26 145 54 27.14 1 5 91299931 91299931 G C SNP - - - - - - - - - - - - - - - 174 72 29.27 285 81 22.07 131 66 33.5 129 74 36.45 164 78 32.23 161 43 21.08 1 5 91357738 91357738 G A SNP - - - - - - - - - - - - - - - 180 69 27.6 223 57 20.36 148 52 26 115 57 33.14 128 67 34.36 136 53 28.04 1 5 91448176 91448176 C T SNP - - - - - - - - - - - - - - - 187 2 1.06 190 64 25.2 76 108 58.7 121 3 2.42 87 56 39.16 158 0 0 2 5 91737547 91737547 C G SNP - - - - - - - - - - - - - - - 167 67 28.63 228 49 17.69 77 95 55.23 105 41 28.08 115 65 35.91 128 50 28.09 1 5 91758970 91758970 T A SNP - - - - - - - - - - - - - - - 178 84 32.06 212 65 23.47 110 54 32.93 122 49 28.65 147 78 34.67 135 47 25.82 1 5 92685911 92685911 T G SNP - - - - - - - - - - - - - - - 139 63 31.19 197 41 17.23 73 79 51.97 86 51 37.23 116 42 26.25 102 49 32.45 1 5 93048746 93048746 A G SNP FAM172A NM_032042.4 human genbank 54_36p -1 validated intronic c.1109-66155 e10-66155 0.004 - - - no_errors 151 55 26.7 223 60 21.2 112 52 31.71 94 45 32.37 121 59 32.78 112 32 22.22 1 5 93108774 93108774 C T SNP FAM172A NM_032042.4 human genbank 54_36p -1 validated intronic c.1108+28847 e9+28847 0 - - - no_errors 168 90 34.88 246 74 23.12 129 65 33.51 102 63 38.18 134 78 36.79 125 37 22.84 1 5 93269376 93269376 G A SNP FAM172A NM_032042.4 human genbank 54_36p -1 validated intronic c.568-26226 e6-26226 0 - - - no_errors 164 1 0.61 208 51 19.69 55 68 55.28 148 2 1.33 115 0 0 131 0 0 3 5 93725443 93725443 C A SNP uc003kkn.1 ENST00000403033 human ensembl 54_36p -1 known intronic c.554+20386 e4+20386 0 - - - no_errors 134 0 0 144 0 0 100 0 0 104 0 0 70 17 19.54 93 0 0 6 5 94798178 94798178 G A SNP FAM81B NM_152548.2 human genbank 54_36p 1 validated intronic c.787-82 e7-82 0.056 - - - no_errors 225 82 26.71 287 79 21.58 118 78 39.59 148 63 29.86 133 74 35.75 118 74 38.54 1 5 95751619 95751619 A C SNP PCSK1 NM_000439.3 human genbank 54_36p -1 reviewed 3_prime_flanking_region c.*2842 NULL 0.002 - - - no_errors 218 0 0 331 0 0 149 28 15.82 170 0 0 231 0 0 193 0 0 9 5 96862610 96862610 G A SNP - - - - - - - - - - - - - - - 194 4 2.02 230 45 16.36 88 81 47.93 147 0 0 175 0 0 165 0 0 3 5 96986124 96986124 T C SNP - - - - - - - - - - - - - - - 232 1 0.43 272 0 0 148 56 27.45 160 0 0 168 1 0.59 189 0 0 9 5 98919500 98919500 C G SNP LOC728093 XR_042337.1 human genbank 54_36p -1 model 5_prime_flanking_region c.-30536 NULL 0.001 - - - pseudogene 99 48 32.65 147 35 19.13 50 61 54.95 72 27 27.27 84 54 39.13 84 25 22.94 1 5 99983739 99983739 C G SNP FAM174A NM_198507.1 human genbank 54_36p 1 provisional 3_prime_flanking_region c.*33952 NULL 0 - - - no_errors 212 5 2.29 213 49 18.7 98 82 45.56 156 4 2.5 93 76 44.71 167 0 0 2 5 100487032 100487032 C G SNP - - - - - - - - - - - - - - - 97 47 32.64 171 0 0 113 0 0 71 38 34.86 122 0 0 103 0 0 4 5 100875880 100875880 G T SNP - - - - - - - - - - - - - - - 183 77 29.62 292 83 22.07 104 86 45.26 144 76 34.55 144 72 33.18 167 34 16.83 1 5 100934674 100934674 T G SNP ENSG00000222929 ENST00000410997 human ensembl 54_36p 1 novel 5_prime_flanking_region c.-10759 NULL 0.004 - - - no_errors 189 45 19.23 234 69 22.77 134 57 29.84 156 74 32.17 137 75 35.21 117 32 21.48 1 5 100982495 100982495 A T SNP ENSG00000222929 ENST00000410997 human ensembl 54_36p 1 novel 3_prime_flanking_region c.*36766 NULL 0.007 - - - no_errors 212 1 0.47 219 47 17.6 80 66 44.9 163 0 0 149 0 0 151 0 0 3 6 126988664 126988664 T A SNP LOC728666 XR_015645.2 human genbank 54_36p 1 model 5_prime_flanking_region c.-17651 NULL 0 - - - no_errors 135 0 0 118 0 0 91 0 0 76 2 2.56 57 40 41.24 83 0 0 6 6 127585527 127585527 C G SNP RNF146 NM_030963.2 human genbank 54_36p 1 provisional 5_prime_flanking_region c.-63928 NULL 0.001 - - - no_errors 101 40 28.17 168 1 0.59 146 0 0 71 47 39.83 108 0 0 148 1 0.67 4 6 128208030 128208030 G A SNP C6orf190 NM_001010923.1 human genbank 54_36p -1 validated intronic c.250+9838 e2+9838 0 - - - no_errors 165 0 0 153 27 15 98 0 0 145 0 0 150 0 0 144 1 0.69 8 6 128364136 128364136 C G SNP PTPRK NM_002844.1 human genbank 54_36p -1 validated intronic c.2495-2394 e16-2394 0.003 - - - no_errors 205 0 0 301 1 0.33 117 33 22 153 0 0 197 0 0 191 0 0 9 6 128840172 128840172 T G SNP PTPRK NM_002844.1 human genbank 54_36p -1 validated intronic c.100+42925 e1+42925 0.002 - - - no_errors 295 0 0 362 1 0.28 220 0 0 193 6 3.02 136 85 38.46 222 0 0 6 6 128888781 128888781 T C SNP PTPRK NM_002844.1 human genbank 54_36p -1 validated 5_prime_flanking_region c.-5585 NULL 0.014 - - - no_errors 150 59 28.1 237 69 22.55 99 47 32.19 117 72 38.1 135 65 32.5 125 41 24.7 1 6 130205896 130205896 C A SNP C6orf191 NM_001010876.1 human genbank 54_36p -1 predicted intronic c.193+472 e3+472 0.216 - - - no_errors 111 0 0 160 0 0 95 0 0 71 34 32.38 96 0 0 90 0 0 7 6 130671400 130671400 A C SNP SAMD3 ENST00000368134 human ensembl 54_36p -1 known intronic c.1+56558 e0+56558 0.006 - - - no_errors 232 0 0 211 62 22.71 194 0 0 179 0 0 203 0 0 181 0 0 8 6 131099587 131099587 G A SNP - - - - - - - - - - - - - - - 171 0 0 185 0 0 147 0 0 122 3 2.4 71 51 41.8 126 0 0 6 6 131268132 131268132 G A SNP EPB41L2 NM_001431.1 human genbank 54_36p -1 validated intronic c.854-759 e5-759 0 - - - no_errors 184 80 30.3 255 62 19.56 73 98 57.31 120 51 29.82 127 79 38.35 152 43 22.05 1 6 131972080 131972080 A C SNP MED23 NM_004830.2 human genbank 54_36p -1 reviewed intronic c.1077+799 e11+799 0.002 - - - no_errors 112 51 31.29 144 47 24.61 84 21 20 84 31 26.96 60 39 39.39 93 25 21.19 1 6 132396420 132396420 C T SNP LOC100131774 XM_001717693.1 human genbank 54_36p 1 model intronic c.788-43621 e3-43621 0.002 - - - no_errors 111 64 36.57 170 47 21.66 101 28 21.71 97 43 30.5 80 48 37.5 87 46 34.59 1 6 132498090 132498090 G A SNP - - - - - - - - - - - - - - - 318 0 0 407 0 0 242 0 0 221 9 3.9 175 98 35.9 264 0 0 6 6 132877609 132877609 A C SNP STX7 NM_003569.2 human genbank 54_36p -1 validated 5_prime_flanking_region c.-11247 NULL 0.007 - - - no_errors 184 95 34.05 323 2 0.61 199 0 0 134 54 28.72 211 0 0 181 0 0 4 6 133239118 133239118 C A SNP HMGB1L13 ENST00000406019 human ensembl 54_36p -1 known 5_prime_flanking_region c.-7427 NULL 0.009 - - - no_coding_region:pseudogene 134 46 25.56 174 48 21.62 35 54 60.67 104 36 25.53 88 43 32.82 84 25 22.94 1 6 133449351 133449351 G C SNP - - - - - - - - - - - - - - - 337 0 0 380 0 0 201 40 16.6 262 0 0 274 0 0 245 0 0 9 6 133809460 133809460 G A SNP EYA4 NM_004100.4 human genbank 54_36p 1 reviewed splice_site c.84-1 e3-1 1 - - - no_errors 107 50 31.85 156 35 18.32 49 75 60.48 83 37 30.83 103 49 32.24 96 20 17.24 1 6 134204985 134204985 G T SNP TCF21 NM_003206.3 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-47244 NULL 0.002 - - - no_errors 317 3 0.94 275 73 20.98 92 98 51.58 241 0 0 225 0 0 224 0 0 3 6 134818453 134818453 A G SNP - - - - - - - - - - - - - - - 175 90 33.96 229 83 26.6 135 53 28.19 114 72 38.71 135 89 39.73 176 61 25.74 1 6 134973299 134973299 T C SNP ENSG00000218772 ENST00000407496 human ensembl 54_36p -1 known 5_prime_flanking_region c.-5767 NULL 0.024 - - - no_coding_region:pseudogene 219 137 38.48 366 86 19.03 105 124 54.15 150 91 37.76 185 115 38.21 183 75 29.07 1 6 136421335 136421335 G C SNP PDE7B NM_018945.3 human genbank 54_36p 1 validated intronic c.83-50227 e3-50227 0 - - - no_errors 213 0 0 274 0 0 146 30 17.05 164 0 0 176 0 0 162 0 0 9 6 136618559 136618559 C T SNP FAM54A NM_001099286.1 human genbank 54_36p -1 validated 5_prime_flanking_region c.-6629 NULL 0.009 - - - no_errors 144 75 34.25 216 57 20.88 99 35 26.12 124 55 30.73 120 66 35.48 107 35 24.31 1 6 136668368 136668368 A G SNP BCLAF1 NM_014739.1 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-25671 NULL 0.023 - - - no_errors 126 63 33.33 229 47 16.91 100 27 21.09 106 56 34.57 93 55 37.16 118 46 28.05 1 6 136865483 136865483 A C SNP MAP7 NM_003980.3 human genbank 54_36p -1 reviewed intronic c.67+47690 e1+47690 0 - - - no_errors 188 115 37.95 371 0 0 218 1 0.46 162 62 27.68 220 0 0 205 0 0 4 6 137001899 137001899 C G SNP MAP3K5 NM_005923.3 human genbank 54_36p -1 reviewed intronic c.1934+475 e13+475 0 - - - no_errors 225 0 0 260 0 0 102 45 30.61 151 0 0 174 0 0 149 0 0 9 6 137290849 137290849 C T SNP ENSG00000207247 ENST00000384518 human ensembl 54_36p 1 novel 5_prime_flanking_region c.-6747 NULL 0 - - - no_errors 138 0 0 156 0 0 84 36 30 96 0 0 124 0 0 130 0 0 9 6 138631562 138631562 G T SNP KIAA1244 NM_020340.3 human genbank 54_36p 1 validated intronic c.2128+5121 e12+5121 0 - - - no_errors 145 76 34.39 292 2 0.68 161 0 0 133 54 28.88 192 0 0 179 0 0 4 6 139334982 139334982 T C SNP REPS1 NM_031922.1 human genbank 54_36p -1 validated intronic c.1+15378 e0+15378 0 - - - no_errors 133 64 32.16 250 0 0 169 0 0 100 38 27.54 171 1 0.58 115 0 0 4 6 139970758 139970758 A T SNP ENSG00000219806 ENST00000402768 human ensembl 54_36p -1 known 3_prime_flanking_region c.*6510 NULL 0.001 - - - no_coding_region:pseudogene 269 0 0 247 76 23.53 149 61 29.05 204 0 0 246 0 0 224 0 0 5 6 140049282 140049282 T C SNP ENSG00000205695 ENST00000381279 human ensembl 54_36p 1 known 3_prime_flanking_region c.*24945 NULL 0.001 - - - no_coding_region:pseudogene 168 82 32.8 222 77 25.75 114 45 28.3 122 76 38.38 124 78 38.61 115 50 30.3 1 6 140428469 140428469 C G SNP LOC729070 XM_001132470.1 human genbank 54_36p 1 model 5_prime_flanking_region c.-17548 NULL 0.001 - - - no_errors 308 0 0 411 0 0 264 0 0 226 10 4.24 137 81 37.16 270 0 0 6 6 140762083 140762083 G T SNP - - - - - - - - - - - - - - - 180 0 0 204 0 0 144 0 0 117 0 0 87 43 33.08 136 0 0 6 6 140884297 140884297 A C SNP - - - - - - - - - - - - - - - 71 35 33.02 148 30 16.85 88 26 22.81 68 23 25.27 63 29 31.52 75 24 24.24 1 6 142699775 142699775 T G SNP GPR126 NM_198569.2 human genbank 54_36p 1 validated intronic c.103+27301 e2+27301 0.009 - - - no_errors 286 0 0 310 0 0 210 0 0 153 8 4.97 107 88 45.13 205 0 0 6 6 143071684 143071684 A G SNP HIVEP2 NM_006734.3 human genbank 54_36p -1 provisional 3_prime_flanking_region c.*44253 NULL 0 - - - no_errors 164 1 0.61 196 41 17.3 67 81 54.73 149 0 0 160 0 0 148 0 0 3 6 143749402 143749402 C G SNP ENSG00000218896 ENST00000402141 human ensembl 54_36p 1 known 5_prime_flanking_region c.-49644 NULL 0.001 - - - no_coding_region:pseudogene 253 0 0 249 0 0 131 32 19.63 185 0 0 175 0 0 201 0 0 9 6 144414900 144414900 T C SNP PLAGL1 NM_001080951.1 human genbank 54_36p -1 reviewed intronic c.1+12381 e0+12381 0.001 - - - no_errors 338 0 0 425 0 0 286 0 0 249 0 0 164 98 37.4 248 0 0 6 6 146172510 146172510 A G SNP FBXO30 NM_032145.4 human genbank 54_36p -1 reviewed intronic c.1-3260 e1-3260 0.001 - - - no_errors 161 72 30.77 216 50 18.73 143 50 25.91 105 52 33.12 122 56 31.28 126 35 21.74 1 6 146186567 146186567 A G SNP FBXO30 NM_032145.4 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-17333 NULL 0.005 - - - no_errors 162 1 0.61 231 0 0 99 22 18.18 124 0 0 143 0 0 150 0 0 9 6 146310991 146310991 T G SNP SHPRH NM_001042683.1 human genbank 54_36p -1 validated intronic c.1061+110 e4+110 0 - - - no_errors 136 59 30.26 232 0 0 148 0 0 85 44 34.11 167 0 0 138 0 0 4 6 146410871 146410871 C T SNP GRM1 NM_000838.3 human genbank 54_36p 1 reviewed intronic c.700+17825 e1+17825 0 - - - no_errors 105 63 37.5 159 56 26.05 56 61 52.14 57 54 48.65 86 44 33.85 99 32 24.24 1 6 146542099 146542099 G A SNP GRM1 NM_000838.3 human genbank 54_36p 1 reviewed intronic c.950+19673 e2+19673 0 - - - no_errors 117 64 35.36 161 54 25.12 80 79 49.69 68 55 44.35 80 57 41.61 96 40 29.41 1 6 146625698 146625698 A T SNP GRM1 NM_000838.3 human genbank 54_36p 1 reviewed intronic c.951-41742 e3-41742 0.027 - - - no_errors 179 94 34.43 295 87 22.77 159 54 25.35 149 83 35.78 184 117 38.87 130 60 31.41 1 6 146625699 146625699 A G SNP GRM1 NM_000838.3 human genbank 54_36p 1 reviewed intronic c.951-41741 e3-41741 0.027 - - - no_errors 178 96 35.04 297 88 22.86 160 54 25.23 151 83 35.47 184 119 39.27 130 60 31.41 1 6 146941806 146941806 G C SNP C6orf103 ENST00000326929 human ensembl 54_36p 1 known 5_prime_flanking_region c.-20064 NULL 0.005 - - - no_errors 250 0 0 278 0 0 172 0 0 180 8 4.26 87 67 43.51 149 0 0 6 6 148074549 148074549 T G SNP - - - - - - - - - - - - - - - 320 0 0 374 0 0 198 38 16.03 196 0 0 241 0 0 233 0 0 9 6 148147186 148147186 T C SNP - - - - - - - - - - - - - - - 263 0 0 273 0 0 183 0 0 156 0 0 121 73 37.63 165 0 0 6 6 158141272 158141272 T C SNP SNX9 NM_016224.3 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-23183 NULL 0.005 - - - no_errors 116 65 35.91 204 59 22.43 62 91 59.48 92 41 30.83 103 57 35.62 117 28 19.31 1 6 158545732 158545732 T C SNP SERAC1 NM_032861.2 human genbank 54_36p -1 provisional 5_prime_flanking_region c.-46349 NULL 0 - - - no_errors 154 1 0.65 172 0 0 87 27 23.68 107 0 0 125 0 0 130 0 0 9 6 158572652 158572652 T A SNP GTF2H5 NM_207118.2 human genbank 54_36p 1 reviewed 3_prime_flanking_region c.*39475 NULL 0.001 - - - no_errors 166 124 42.76 221 71 24.32 142 63 30.73 142 87 37.99 144 83 36.56 136 71 34.3 1 6 159113832 159113832 G T SNP EZR NM_003379.1 human genbank 54_36p -1 reviewed intronic c.796-1405 e8-1405 0 - - - no_errors 154 53 25.6 197 58 22.75 71 96 57.49 102 62 37.8 98 71 42.01 124 48 27.91 1 6 162159061 162159061 C G SNP PARK2 NM_004562.2 human genbank 54_36p -1 reviewed intronic c.735-32131 e7-32131 0 - - - no_errors 187 0 0 203 0 0 140 26 15.66 148 0 0 149 0 0 129 1 0.77 9 6 162346313 162346313 T C SNP PARK2 NM_004562.2 human genbank 54_36p -1 reviewed intronic c.619-31874 e6-31874 0 - - - no_errors 141 55 28.06 209 61 22.59 113 29 20.42 97 34 25.95 123 65 34.57 116 44 27.5 1 6 162682987 162682987 A G SNP PARK2 NM_004562.2 human genbank 54_36p -1 reviewed intronic c.172-79200 e3-79200 0.098 - - - no_errors 358 0 0 391 0 0 175 55 23.91 284 1 0.35 261 0 0 235 0 0 9 6 164009292 164009292 C A SNP - - - - - - - - - - - - - - - 107 55 33.95 246 0 0 148 0 0 100 41 29.08 181 0 0 161 0 0 4 6 165086154 165086154 C A SNP - - - - - - - - - - - - - - - 127 49 27.68 173 0 0 113 0 0 73 36 33.03 127 0 0 126 0 0 4 6 165127699 165127699 C T SNP - - - - - - - - - - - - - - - 97 59 37.82 200 41 17.01 123 37 23.12 67 47 41.23 105 49 31.82 121 44 26.51 1 6 165264097 165264097 C G SNP - - - - - - - - - - - - - - - 149 0 0 171 0 0 76 30 28.3 111 0 0 95 0 0 95 0 0 9 6 166841984 166841984 G C SNP RPS6KA2 NM_001006932.1 human genbank 54_36p -1 reviewed intronic c.404-224 e6-224 0 - - - no_errors 131 0 0 134 0 0 72 14 16.28 90 0 0 101 0 0 99 0 0 9 6 167353536 167353536 A G SNP FGFR1OP NM_007045.2 human genbank 54_36p 1 reviewed intronic c.580-2351 e8-2351 0 - - - no_errors 113 0 0 100 27 21.09 52 24 31.58 80 0 0 85 0 0 86 0 0 5 6 167492553 167492553 T A SNP GPR31 NM_005299.2 human genbank 54_36p -1 validated 5_prime_flanking_region c.-1244 NULL 0.009 - - - no_errors 344 0 0 451 0 0 263 0 0 313 3 0.95 161 109 40.22 247 0 0 6 6 167498834 167498834 G A SNP GPR31 NM_005299.2 human genbank 54_36p -1 validated 5_prime_flanking_region c.-7525 NULL 0.002 - - - no_errors 116 0 0 92 30 24.59 82 0 0 81 0 0 93 0 0 91 0 0 8 6 167553070 167553070 G C SNP ENSG00000216966 ENST00000404577 human ensembl 54_36p -1 known 5_prime_flanking_region c.-10695 NULL 0.003 - - - no_coding_region:pseudogene 134 0 0 156 0 0 90 19 17.27 95 0 0 103 0 0 108 0 0 9 6 168173437 168173437 G A SNP KIF25 NM_030615.3 human genbank 54_36p 1 reviewed intronic c.92+231 e1+231 0.002 - - - no_errors 148 0 0 178 0 0 106 35 24.82 104 0 0 114 0 0 124 0 0 9 6 169212522 169212522 T G SNP - - - - - - - - - - - - - - - 251 0 0 296 0 0 202 0 0 166 1 0.59 119 69 36.7 223 0 0 6 6 170755923 170755923 C T SNP PDCD2 NM_002598.2 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-20329 NULL 0 - - - no_errors 248 1 0.4 281 0 0 175 0 0 168 7 4 143 61 29.9 183 0 0 6 7 166598 166598 G T SNP LOC554248 XR_040112.1 human genbank 54_36p 1 model intronic c.NULL NULL 0.005 - - - no_errors 183 0 0 187 0 0 110 24 17.91 129 0 0 122 0 0 155 0 0 9 7 1743704 1743704 G A SNP LOC401296 XR_040762.1 human genbank 54_36p -1 model 5_prime_flanking_region c.-43647 NULL 0.002 - - - no_errors 119 55 31.61 215 0 0 153 0 0 94 55 36.91 138 0 0 147 0 0 4 7 2362179 2362179 A G SNP EIF3B NM_001037283.1 human genbank 54_36p 1 validated intronic c.499+598 e1+598 0 - - - no_errors 150 63 29.58 180 54 23.08 94 72 43.37 92 50 35.21 97 62 38.75 121 32 20.92 1 7 6665240 6665240 C G SNP LOC100133111 XM_001716637.1 human genbank 54_36p 1 model 5_prime_flanking_region c.-4791 NULL 0.15 - - - no_errors 183 0 0 250 0 0 164 29 15.03 147 0 0 166 0 0 149 0 0 9 7 7185556 7185556 A G SNP LOC100134731 XM_001717844.1 human genbank 54_36p -1 model 5_prime_flanking_region c.-47117 NULL 0 - - - no_start_codon:pseudogene:no_stop_codon 144 72 33.33 192 47 19.67 89 80 47.34 96 65 40.37 98 49 33.33 106 32 23.19 1 7 7426061 7426061 C T SNP COL28A1 NM_001037763.2 human genbank 54_36p -1 validated missense c.2047 p.V683I 0.977 NULL "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_Collagen,superfamily_vWA-like" - no_errors 56 39 41.05 105 28 21.05 63 40 38.83 49 27 35.53 70 31 30.69 68 43 38.74 1 7 7540276 7540276 A T SNP COL28A1 NM_001037763.2 human genbank 54_36p -1 validated intronic c.1-1208 e1-1208 0 - - - no_errors 210 125 37.31 265 62 18.96 159 104 39.54 146 76 34.23 146 73 33.18 191 59 23.6 1 7 7631972 7631972 G A SNP LOC729852 XR_040870.1 human genbank 54_36p 1 model 5_prime_flanking_region c.-14974 NULL 0.113 - - - no_errors 150 71 31.98 223 42 15.85 116 108 48.21 114 60 34.48 132 63 32.31 159 42 20.9 1 7 8601313 8601313 C T SNP NXPH1 NM_152745.2 human genbank 54_36p 1 reviewed intronic c.55-155850 e2-155850 0 - - - no_errors 157 60 27.65 214 50 18.94 105 64 37.87 131 67 33.84 117 50 29.94 113 45 28.48 1 7 8838677 8838677 A G SNP LOC100134670 XM_001725702.1 human genbank 54_36p 1 model 5_prime_flanking_region c.-43228 NULL 0.026 - - - no_start_codon:pseudogene:no_stop_codon 144 0 0 221 0 0 146 0 0 83 35 29.66 124 0 0 106 0 0 7 7 9420732 9420732 C A SNP - - - - - - - - - - - - - - - 184 0 0 250 0 0 128 27 17.42 110 0 0 155 0 0 150 0 0 9 7 10477769 10477769 A C SNP ENSG00000216737 ENST00000401519 human ensembl 54_36p 1 known 5_prime_flanking_region c.-4964 NULL 0 - - - no_coding_region:pseudogene 109 63 36.63 160 48 23.08 97 77 44.25 58 38 39.58 105 42 28.57 79 29 26.85 1 7 10939342 10939342 G C SNP NDUFA4 NM_002489.2 human genbank 54_36p -1 reviewed 3_prime_untranslated_region c.*446 NULL 0.229 - - - no_errors 175 0 0 212 0 0 191 0 0 119 1 0.83 113 33 22.6 143 0 0 6 7 11321150 11321150 G A SNP LOC100134516 XM_001720864.1 human genbank 54_36p -1 model 5_prime_flanking_region c.-46871 NULL 0 - - - no_start_codon:pseudogene:no_stop_codon 162 72 30.77 301 62 17.08 148 116 43.94 149 55 26.96 152 100 39.53 185 62 25.1 1 7 11500805 11500805 G T SNP THSD7A NM_015204.1 human genbank 54_36p -1 validated intronic c.1823-12671 e7-12671 0.001 - - - no_errors 230 3 1.29 192 50 20.58 98 78 44.07 136 0 0 180 0 0 149 0 0 3 7 12163423 12163423 A G SNP - - - - - - - - - - - - - - - 218 6 2.68 185 60 24.49 102 104 50.49 132 0 0 114 47 29.19 161 0 0 3 7 13981990 13981990 T C SNP ETV1 ENST00000405358 human ensembl 54_36p -1 known intronic c.277+1587 e4+1587 0.01 - - - no_errors 299 0 0 380 0 0 271 1 0.37 197 3 1.5 129 94 42.15 191 0 0 6 7 15592530 15592530 G A SNP TMEM195 NM_001004320.1 human genbank 54_36p -1 provisional 5_prime_flanking_region c.-24535 NULL 0.005 - - - no_errors 225 0 0 267 0 0 238 0 0 146 0 0 114 61 34.86 176 0 0 6 7 15885801 15885801 C G SNP - - - - - - - - - - - - - - - 176 0 0 212 0 0 120 26 17.81 109 0 0 140 0 0 120 0 0 9 7 15953918 15953918 C T SNP - - - - - - - - - - - - - - - 156 0 0 200 1 0.5 180 1 0.55 111 5 4.31 79 42 34.71 131 0 0 6 7 16156793 16156793 A C SNP LOC729920 NM_001101426.2 human genbank 54_36p -1 validated intronic c.1252-58844 e10-58844 0.007 - - - no_errors 343 2 0.58 272 66 19.53 137 110 44.53 214 0 0 239 0 0 209 0 0 3 7 16530977 16530977 A T SNP SOSTDC1 ENST00000396652 human ensembl 54_36p -1 known intronic c.1+5360 e0+5360 0 - - - no_errors 211 0 0 234 0 0 191 0 0 150 5 3.23 116 73 38.62 189 0 0 6 7 17180429 17180429 A C SNP ENSG00000209101 ENST00000386366 human ensembl 54_36p 1 novel 5_prime_flanking_region c.-31372 NULL 0.017 - - - pseudogene 188 0 0 235 0 0 198 0 0 129 2 1.53 111 40 26.49 142 0 0 6 7 17294379 17294379 A G SNP LOC100131512 XM_001722836.1 human genbank 54_36p -1 model intronic c.296-1714 e2-1714 0.001 - - - no_errors 129 71 35.5 182 69 27.49 116 90 43.69 113 54 32.34 108 70 39.33 114 36 23.84 1 7 17798775 17798775 C A SNP SNX13 NM_015132.4 human genbank 54_36p -1 reviewed 3_prime_untranslated_region c.*1419 NULL 1 - - - no_errors 294 1 0.34 267 81 23.28 163 107 39.63 186 0 0 261 0 0 205 0 0 3 7 18630770 18630770 G T SNP HDAC9 NM_178425.1 human genbank 54_36p 1 reviewed intronic c.665-4728 e6-4728 1 - - - no_errors 166 66 28.45 218 48 18.05 110 86 43.88 104 47 31.13 87 57 39.58 113 52 31.52 1 7 18977783 18977783 C A SNP HDAC9 NM_178425.1 human genbank 54_36p 1 reviewed intronic c.3023-4171 e24-4171 0.1 - - - no_errors 140 28 16.67 227 0 0 151 0 0 119 0 0 133 0 0 142 0 0 10 7 19684407 19684407 G A SNP TWISTNB NM_001002926.1 human genbank 54_36p -1 validated 3_prime_flanking_region c.*20057 NULL 0.01 - - - no_errors 183 89 32.72 235 70 22.95 136 106 43.8 128 67 34.36 130 77 37.2 150 59 28.23 1 7 20539353 20539353 G C SNP ENSG00000216897 ENST00000407344 human ensembl 54_36p 1 known 5_prime_flanking_region c.-48867 NULL 0.001 - - - no_coding_region:pseudogene 120 46 27.71 160 35 17.95 77 75 49.34 61 46 42.99 97 47 32.64 127 42 24.85 1 7 20541601 20541601 A C SNP ENSG00000216897 ENST00000407344 human ensembl 54_36p 1 known 5_prime_flanking_region c.-46619 NULL 0.012 - - - no_coding_region:pseudogene 235 127 34.89 320 84 20.79 163 117 41.64 151 77 33.77 167 98 36.84 160 57 26.27 1 7 20956773 20956773 A C SNP - - - - - - - - - - - - - - - 254 1 0.39 319 0 0 196 32 13.97 154 0 0 207 0 0 180 0 0 9 7 21031229 21031229 G C SNP LOC100134750 XM_001724010.1 human genbank 54_36p -1 model 5_prime_flanking_region c.-21736 NULL 0.031 - - - no_start_codon:pseudogene:no_stop_codon 216 0 0 257 0 0 209 0 0 165 6 3.49 99 65 39.63 164 0 0 6 7 21191092 21191092 T G SNP ENSG00000222573 ENST00000410641 human ensembl 54_36p -1 novel 3_prime_flanking_region c.*30592 NULL 0.041 - - - no_errors 238 135 36.19 386 109 22.02 205 151 42.42 167 112 40 205 137 40.06 183 71 27.84 1 7 21893479 21893479 A T SNP DNAH11 ENST00000328843 human ensembl 54_36p 1 known intronic c.12528+2926 e77+2926 0 - - - no_errors 213 0 0 247 0 0 194 0 0 137 3 2.14 102 73 41.71 160 0 0 6 7 21988837 21988837 T C SNP CDCA7L NM_018719.1 human genbank 54_36p -1 validated 5_prime_flanking_region c.-36890 NULL 0.224 - - - no_errors 105 55 34.38 179 41 18.64 87 59 40.41 69 46 40 80 45 36 73 21 22.34 1 7 22397215 22397215 A G SNP RAPGEF5 NM_012294.3 human genbank 54_36p -1 validated 5_prime_flanking_region c.-81051 NULL 0 - - - no_errors 124 67 34.9 193 47 19.58 117 97 45.33 94 47 33.1 91 55 37.67 114 46 28.75 1 7 22404575 22404575 A G SNP RAPGEF5 NM_012294.3 human genbank 54_36p -1 validated 5_prime_flanking_region c.-88411 NULL 0.132 - - - no_errors 182 89 32.84 341 1 0.29 248 0 0 132 79 37.44 206 0 0 207 0 0 4 7 24059182 24059182 T A SNP - - - - - - - - - - - - - - - 229 1 0.43 170 58 25.44 114 72 38.71 117 0 0 173 0 0 154 0 0 3 7 25240044 25240044 G C SNP NPVF NM_022150.3 human genbank 54_36p -1 validated 5_prime_flanking_region c.-5461 NULL 0.871 - - - no_errors 247 1 0.4 318 0 0 177 43 19.28 193 0 0 208 0 0 169 0 0 9 7 25400320 25400320 T G SNP LOC100134549 XM_001724842.1 human genbank 54_36p 1 model 5_prime_flanking_region c.-31697 NULL 0.06 - - - no_start_codon:pseudogene:no_stop_codon 339 0 0 427 0 0 259 35 11.9 252 0 0 263 0 0 257 0 0 9 7 25518368 25518368 C G SNP LOC100134662 XM_001724856.1 human genbank 54_36p -1 model 3_prime_flanking_region c.*43400 NULL 0.932 - - - no_start_codon:pseudogene:no_stop_codon 141 65 31.55 250 43 14.68 137 79 36.57 95 60 38.71 119 82 40.8 135 46 25.41 1 7 25535588 25535588 C T SNP ENSG00000222101 ENST00000410169 human ensembl 54_36p 1 novel 5_prime_flanking_region c.-41225 NULL 0 - - - no_errors 102 45 30.61 134 36 21.18 70 56 44.44 60 42 41.18 79 36 31.3 85 29 25.44 1 7 26273927 26273927 A G SNP SNX10 NM_013322.2 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-78661 NULL 0.002 - - - no_errors 187 0 0 239 0 0 153 0 0 136 1 0.73 95 57 37.25 130 0 0 6 7 26663040 26663040 C G SNP SKAP2 NM_003930.3 human genbank 54_36p -1 reviewed 3_prime_flanking_region c.*13204 NULL 0.005 - - - no_errors 190 0 0 261 0 0 155 30 16.22 136 0 0 166 0 0 144 1 0.69 9 7 26990797 26990797 G C SNP ENSG00000184579 ENST00000333401 human ensembl 54_36p -1 novel 5_prime_flanking_region c.-1196 NULL 0.247 - - - no_coding_region:pseudogene 139 77 35.65 276 1 0.36 224 0 0 98 41 29.5 217 0 0 188 2 1.05 4 7 26995271 26995271 C T SNP ENSG00000184579 ENST00000333401 human ensembl 54_36p -1 novel 5_prime_flanking_region c.-5670 NULL 0.97 - - - no_coding_region:pseudogene 123 69 35.75 173 43 19.91 123 88 41.71 92 57 38.26 97 62 38.99 111 31 21.83 1 7 27709540 27709540 C T SNP LOC100134513 XM_001726243.1 human genbank 54_36p -1 model 3_prime_untranslated_region c.*4134 NULL 0.972 - - - no_start_codon:pseudogene:no_stop_codon 126 39 23.64 215 0 0 140 0 0 81 27 25 114 0 0 103 0 0 4 7 28201971 28201971 G A SNP LOC100128081 XM_001717474.1 human genbank 54_36p 1 model intronic c.158+10075 e2+10075 0 - - - no_errors 188 0 0 263 0 0 141 44 23.78 147 0 0 156 1 0.64 174 0 0 9 7 28805042 28805042 T C SNP CREB5 NM_182898.1 human genbank 54_36p 1 reviewed intronic c.703-5299 e8-5299 1 - - - no_errors 117 83 41.5 193 50 20.58 127 90 41.47 92 43 31.85 92 71 43.56 130 43 24.86 1 7 29479373 29479373 C G SNP CHN2 NM_004067.1 human genbank 54_36p 1 reviewed intronic c.577-7047 e7-7047 0.075 - - - no_errors 196 93 32.18 265 77 22.51 178 124 41.06 143 83 36.73 157 68 30.22 155 79 33.76 1 7 31635730 31635730 A C SNP CCDC129 NM_194300.2 human genbank 54_36p 1 validated intronic c.1229-12585 e9-12585 0.166 - - - no_errors 169 0 0 230 0 0 177 0 0 132 2 1.49 102 45 30.61 141 0 0 6 7 32019297 32019297 G T SNP PDE1C NM_005020.1 human genbank 54_36p -1 provisional intronic c.128+38394 e2+38394 0.003 - - - no_errors 252 1 0.39 303 1 0.33 230 1 0.43 94 46 32.86 186 0 0 153 0 0 7 7 32671620 32671620 G T SNP AVL9 ENST00000404479 human ensembl 54_36p 1 known intronic c.1215+106019 e10+106019 0.001 - - - no_errors 135 61 31.12 168 33 16.42 105 70 40 94 61 39.35 110 61 35.47 115 19 14.18 1 7 34693256 34693256 C G SNP NPSR1 NM_207173.1 human genbank 54_36p 1 reviewed intronic c.280+2435 e2+2435 0.001 - - - no_errors 431 0 0 497 0 0 314 59 15.82 327 0 0 306 0 0 294 0 0 9 7 34854167 34854167 G C SNP NPSR1 NM_207173.1 human genbank 54_36p 1 reviewed intronic c.845-453 e8-453 0.001 - - - no_errors 297 0 0 369 0 0 328 0 0 242 0 0 178 93 34.32 251 0 0 6 7 36805174 36805174 G C SNP ENSG00000214807 ENST00000399021 human ensembl 54_36p 1 novel 5_prime_flanking_region c.-19915 NULL 0.003 - - - no_coding_region:pseudogene 234 0 0 285 0 0 247 0 0 168 4 2.33 153 74 32.6 202 0 0 6 7 37249595 37249595 C G SNP ELMO1 NM_014800.1 human genbank 54_36p -1 reviewed intronic c.449+891 e6+891 0.001 - - - no_errors 260 1 0.38 273 0 0 167 32 16.08 171 0 0 175 0 0 147 0 0 9 7 38316335 38316335 C G SNP TARP NM_001003806.1 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-44716 NULL 0.011 - - - no_errors 225 0 0 214 60 21.9 240 0 0 145 0 0 184 0 0 156 0 0 8 7 38537806 38537806 C G SNP AMPH NM_001635.2 human genbank 54_36p -1 reviewed intronic c.150+3250 e2+3250 0.895 - - - no_errors 137 68 33.17 203 65 24.25 97 94 49.21 88 62 41.33 120 66 35.48 95 42 30.66 1 7 38635352 38635352 C A SNP AMPH NM_001635.2 human genbank 54_36p -1 reviewed intronic c.69+2056 e1+2056 0.004 - - - no_errors 89 55 38.19 122 34 21.79 61 54 46.55 69 37 34.91 61 43 41.35 69 31 31 1 7 39028384 39028384 C G SNP POU6F2 NM_007252.2 human genbank 54_36p 1 validated intronic c.18+15392 e1+15392 0 - - - no_errors 181 0 0 177 48 21.33 96 82 45.81 126 3 2.31 92 51 35.66 148 0 0 2 7 46287907 46287907 A C SNP - - - - - - - - - - - - - - - 85 56 39.72 138 0 0 108 0 0 54 30 35.29 95 0 0 86 0 0 4 7 46668790 46668790 C G SNP LOC730338 XM_001725575.1 human genbank 54_36p -1 model 3_prime_flanking_region c.*26733 NULL 0 - - - no_errors 93 39 29.55 165 0 0 129 0 0 71 29 28.71 105 0 0 110 0 0 4 7 47131612 47131612 C T SNP - - - - - - - - - - - - - - - 98 50 33.78 173 37 17.62 109 50 31.45 106 32 23.19 70 58 45.31 89 35 28.23 1 7 48016189 48016189 G A SNP SUNC1 NM_001030019.1 human genbank 54_36p -1 validated intronic c.289-992 e4-992 0 - - - no_errors 204 102 33.33 259 89 25.5 120 137 53.31 137 92 40.17 143 87 37.83 178 63 25.93 1 7 48231052 48231052 A C SNP ABCA13 NM_152701.2 human genbank 54_36p 1 reviewed intronic c.277-368 e3-368 0 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region 234 3 1.27 281 61 17.84 112 94 45.63 198 0 0 246 0 0 195 1 0.51 3 7 48361048 48361048 A C SNP LOC100134742 XM_001726770.1 human genbank 54_36p 1 model intronic c.209+349 e1+349 0.001 - - - pseudogene:no_stop_codon 200 0 0 247 0 0 174 30 14.71 164 0 0 183 0 0 143 0 0 9 7 48407719 48407719 C G SNP ABCA13 NM_152701.2 human genbank 54_36p 1 reviewed intronic c.11710+5437 e36+5437 0.001 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region 232 0 0 294 0 0 175 33 15.87 150 0 0 223 0 0 143 1 0.69 9 7 48636162 48636162 A G SNP ABCA13 NM_152701.2 human genbank 54_36p 1 reviewed intronic c.14674+10643 e57+10643 0 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region 178 0 0 211 0 0 178 0 0 108 0 0 107 41 27.7 120 0 0 6 7 49282561 49282561 A C SNP LOC100134791 XM_001726801.1 human genbank 54_36p -1 model 3_prime_flanking_region c.*32464 NULL 0 - - - no_start_codon:pseudogene:no_stop_codon 171 1 0.58 149 37 19.89 71 56 44.09 105 0 0 116 0 0 114 0 0 3 7 49622553 49622553 T G SNP - - - - - - - - - - - - - - - 170 0 0 150 39 20.63 149 0 0 120 0 0 133 0 0 138 0 0 8 7 50292215 50292215 C G SNP LOC100132224 XM_001714418.1 human genbank 54_36p 1 model 5_prime_flanking_region c.-36988 NULL 0 - - - no_errors 190 6 3.06 165 45 21.43 110 96 46.6 142 0 0 150 0 0 148 0 0 3 7 50743611 50743611 A G SNP GRB10 NM_005311.2 human genbank 54_36p -1 reviewed intronic c.52-4512 e2-4512 0 - - - no_errors 259 0 0 304 0 0 226 0 0 147 2 1.33 128 68 34.69 178 0 0 6 7 50762938 50762938 C T SNP GRB10 NM_005311.2 human genbank 54_36p -1 reviewed intronic c.51+4525 e1+4525 0 - - - no_errors 191 0 0 278 0 0 174 0 0 129 7 5.15 109 48 30.57 132 0 0 6 7 51779387 51779387 C T SNP ENSG00000210736 ENST00000388001 human ensembl 54_36p 1 novel 3_prime_flanking_region c.*27267 NULL 0 - - - pseudogene 146 42 22.34 178 44 19.82 101 82 44.81 90 52 36.62 90 48 34.78 114 48 29.63 1 7 52781875 52781875 T C SNP LOC100134778 XM_001726838.1 human genbank 54_36p 1 model 5_prime_flanking_region c.-3959 NULL 0.009 - - - no_start_codon:pseudogene:no_stop_codon 197 2 1.01 201 46 18.55 116 71 37.97 129 0 0 181 0 0 136 0 0 3 7 52977271 52977271 T A SNP - - - - - - - - - - - - - - - 359 2 0.55 290 80 21.62 173 116 40.14 241 0 0 261 0 0 243 1 0.41 3 7 53041859 53041859 G A SNP DKFZp564N2472 NM_182595.2 human genbank 54_36p 1 validated 5_prime_flanking_region c.-29000 NULL 0 - - - no_errors 136 82 37.61 215 48 18.18 113 84 42.42 114 51 30.72 111 63 36.21 144 42 22.58 1 7 55582402 55582402 C T SNP ECOP NM_030796.3 human genbank 54_36p -1 validated intronic c.54+25056 e1+25056 0.007 - - - no_errors 102 57 35.85 137 50 26.74 90 75 45.45 76 41 35.04 86 49 36.3 115 35 23.33 1 7 55736464 55736464 C T SNP FKBP9L NR_003949.1 human genbank 54_36p -1 validated intronic c.NULL NULL 0.026 - - - pseudogene 105 36 25.53 121 37 23.42 66 57 46.34 45 33 42.31 59 39 38.61 73 29 28.43 1 7 55987397 55987397 G A SNP MRPS17 NM_015969.2 human genbank 54_36p 1 reviewed intronic c.1+280 e0+280 0 - - - no_errors 85 56 39.72 89 35 28.23 46 46 49.46 59 34 36.17 58 33 36.26 57 23 28.75 1 7 56612832 56612832 C G SNP ENSG00000213650 ENST00000395417 human ensembl 54_36p -1 novel 5_prime_flanking_region c.-8382 NULL 0.114 - - - no_coding_region:pseudogene 160 41 20.4 181 39 17.73 124 68 35.42 109 37 25.34 134 47 25.97 112 43 27.74 1 7 57562948 57562948 G A SNP ZNF716 XM_001714654.1 human genbank 54_36p 1 model 3_prime_flanking_region c.*29351 NULL 0 - - - no_errors 286 4 1.38 306 67 17.91 132 121 47.83 235 0 0 146 81 35.68 196 1 0.51 3 7 66651915 66651915 T C SNP - - - - - - - - - - - - - - - 220 0 0 176 33 15.79 136 0 0 139 0 0 153 0 0 128 0 0 8 7 67421751 67421751 G A SNP - - - - - - - - - - - - - - - 174 87 33.33 358 0 0 223 0 0 148 61 29.19 232 0 0 186 1 0.53 4 7 69094162 69094162 T C SNP AUTS2 NM_015570.1 human genbank 54_36p 1 validated intronic c.522+91742 e2+91742 0.309 - - - no_errors 146 94 39.17 219 42 16.09 141 112 44.27 94 68 41.98 102 77 42.78 131 41 23.84 1 7 69204907 69204907 A C SNP AUTS2 NM_015570.1 human genbank 54_36p 1 validated intronic c.523-16147 e3-16147 0.031 - - - no_errors 307 1 0.32 304 0 0 169 35 17.16 208 0 0 260 0 0 185 0 0 9 7 69315563 69315563 A T SNP AUTS2 NM_015570.1 human genbank 54_36p 1 validated intronic c.660+78070 e4+78070 0.059 - - - no_errors 214 91 29.84 302 90 22.9 172 109 38.79 137 85 38.29 170 93 35.36 162 79 32.64 1 7 69482807 69482807 A T SNP AUTS2 NM_015570.1 human genbank 54_36p 1 validated intronic c.661-55867 e5-55867 0.017 - - - no_errors 161 71 30.6 218 68 23.78 107 103 49.05 107 53 32.92 115 69 37.3 132 62 31.96 1 7 69765464 69765464 G A SNP AUTS2 NM_015570.1 human genbank 54_36p 1 validated intronic c.691-36027 e6-36027 0.49 - - - no_errors 271 0 0 337 0 0 244 0 0 208 0 0 146 88 37.61 221 0 0 6 7 69780337 69780337 A G SNP AUTS2 NM_015570.1 human genbank 54_36p 1 validated intronic c.691-21154 e6-21154 0.003 - - - no_errors 174 0 0 217 0 0 161 0 0 123 1 0.81 77 46 37.1 136 0 0 6 7 70884677 70884677 T C SNP CALN1 NM_031468.2 human genbank 54_36p -1 validated 3_prime_untranslated_region c.*6019 NULL 0 - - - no_errors 125 59 32.07 190 42 18.1 116 61 34.46 94 40 29.85 113 52 31.33 90 35 28 1 7 86849072 86849072 T C SNP CROT NM_021151.1 human genbank 54_36p 1 reviewed intronic c.979-90 e9-90 0.004 - - - no_errors 176 72 28.92 258 52 16.72 109 91 45.5 115 74 39.15 130 69 34.67 134 53 28.34 1 7 87153287 87153287 T A SNP ABCB1 NM_000927.3 human genbank 54_36p -1 reviewed intronic c.1+27126 e0+27126 0.002 - - - no_errors 281 0 0 308 0 0 232 0 0 209 0 0 135 88 39.46 218 0 0 6 7 88539094 88539094 A T SNP ZNF804B NM_181646.2 human genbank 54_36p 1 provisional intronic c.109-146311 e2-146311 0.287 - - - no_errors 269 0 0 348 0 0 274 0 0 241 1 0.41 174 91 34.34 191 0 0 6 7 89920941 89920941 G A SNP LOC100129289 XM_001717785.1 human genbank 54_36p 1 model 5_prime_flanking_region c.-16096 NULL 0.002 - - - no_errors 197 1 0.51 262 0 0 184 0 0 95 30 23.81 152 1 0.65 139 0 0 7 7 90726410 90726410 C G SNP FZD1 NM_003505.1 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-5722 NULL 0.04 - - - no_errors 92 47 33.81 112 24 17.65 70 50 41.67 60 30 33.33 75 45 37.5 71 24 25.26 1 7 92037109 92037109 T A SNP FAM133B NM_152789.1 human genbank 54_36p -1 validated silent c.573 p.S191 1 NULL NULL - no_errors 148 53 26.37 237 0 0 138 1 0.72 91 42 31.34 165 1 0.6 158 0 0 4 7 92466088 92466088 C A SNP ENSG00000222576 ENST00000410644 human ensembl 54_36p -1 novel 5_prime_flanking_region c.-27541 NULL 0 - - - no_errors 214 0 0 313 0 0 237 0 0 165 2 1.2 119 77 39.29 191 0 0 6 7 93033408 93033408 T G SNP CALCR NM_001742.2 human genbank 54_36p -1 validated intronic c.1+8129 e0+8129 0.002 - - - no_errors 126 47 27.17 149 41 21.58 98 56 36.36 82 40 32.79 77 56 42.11 81 20 19.8 1 7 94374627 94374627 C T SNP PPP1R9A NM_017650.2 human genbank 54_36p 1 validated 5_prime_flanking_region c.-2735 NULL 0 - - - no_errors 164 80 32.79 202 54 21.01 107 82 43.39 96 55 36.42 109 72 39.78 137 49 26.34 1 7 94747583 94747583 G C SNP PPP1R9A NM_017650.2 human genbank 54_36p 1 validated intronic c.2758-5871 e12-5871 0.002 - - - no_errors 112 51 31.1 184 0 0 173 0 0 77 38 33.04 144 0 0 134 0 0 4 7 94920150 94920150 G C SNP ASB4 NM_016116.1 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-33070 NULL 0 - - - no_errors 276 1 0.36 329 0 0 224 31 12.16 210 0 0 222 0 0 175 0 0 9 7 96061728 96061728 G T SNP LOC100128444 XM_001724728.1 human genbank 54_36p -1 model 3_prime_flanking_region c.*28136 NULL 0.004 - - - no_errors 322 0 0 393 0 0 267 0 0 188 1 0.53 147 80 35.09 223 0 0 6 7 96066687 96066687 C T SNP LOC100128444 XM_001724728.1 human genbank 54_36p -1 model 3_prime_flanking_region c.*23177 NULL 0.008 - - - no_errors 272 0 0 353 0 0 259 0 0 122 49 28.65 170 0 0 168 0 0 7 7 98132047 98132047 A C SNP NPTX2 NM_002523.2 human genbank 54_36p 1 reviewed 3_prime_flanking_region c.*36170 NULL 0.001 - - - no_errors 163 2 1.21 239 0 0 152 34 18.28 152 0 0 167 0 0 158 0 0 9 7 99297850 99297850 C T SNP CYP3A43 NM_022820.3 human genbank 54_36p 1 reviewed intronic c.1253+452 e11+452 0.001 - - - no_errors 134 67 33.33 210 45 17.65 122 77 38.69 113 49 30.25 101 64 38.79 117 42 26.42 1 7 100050644 100050644 G C SNP MOSPD3 NM_001040097.1 human genbank 54_36p 1 reviewed intronic c.676+54 e4+54 0 - - - no_errors 164 0 0 239 0 0 147 0 0 155 0 0 76 49 39.2 140 0 0 6 7 101047598 101047598 C A SNP MYL10 NM_138403.4 human genbank 54_36p -1 validated intronic c.455-1300 e6-1300 0.674 - - - no_errors 109 54 33.13 161 40 19.9 88 74 45.4 73 53 41.73 107 48 30.97 68 30 30.3 1 7 102599349 102599349 G C SNP uc010lit.1 ENST00000306389 human ensembl 54_36p -1 known intronic c.NULL NULL 0.018 - - - no_coding_region:pseudogene 160 0 0 165 44 20.95 180 0 0 143 0 0 142 0 0 163 0 0 8 7 103095628 103095628 A G SNP RELN NM_005045.3 human genbank 54_36p -1 reviewed intronic c.1290-6418 e12-6418 0.009 - - - no_errors 185 0 0 206 0 0 134 0 0 126 2 1.56 90 37 29.13 115 0 0 6 7 103149549 103149549 A C SNP RELN NM_005045.3 human genbank 54_36p -1 reviewed intronic c.805+1274 e8+1274 0.014 - - - no_errors 205 0 0 256 0 0 190 0 0 161 0 0 98 57 36.77 139 0 0 6 7 103221094 103221094 T A SNP RELN NM_005045.3 human genbank 54_36p -1 reviewed intronic c.474-16784 e4-16784 0.004 - - - no_errors 189 98 34.15 232 68 22.67 130 94 41.96 140 51 26.7 113 83 42.35 141 59 29.5 1 7 103484511 103484511 G A SNP - - - - - - - - - - - - - - - 253 0 0 316 0 0 273 0 0 193 3 1.52 106 77 42.08 217 0 0 6 7 103863521 103863521 C T SNP LHFPL3 NM_199000.2 human genbank 54_36p 1 reviewed intronic c.445+106613 e1+106613 0 - - - no_errors 284 0 0 269 77 22.19 287 0 0 211 0 0 222 0 0 215 1 0.46 8 7 104589345 104589345 A C SNP SRPK2 NM_182692.1 human genbank 54_36p -1 validated intronic c.515-1049 e7-1049 0 - - - no_errors 94 51 35.17 141 44 23.78 116 64 35.56 77 48 38.4 69 59 46.09 85 23 21.3 1 7 105043200 105043200 T A SNP ATXN7L1 ENST00000388807 human ensembl 54_36p -1 known intronic c.498-701 e4-701 0.001 - - - no_errors 235 0 0 251 2 0.78 203 0 0 150 4 2.6 106 53 33.12 152 0 0 6 7 105706428 105706428 G A SNP NAMPT NM_005746.2 human genbank 54_36p -1 reviewed intronic c.58-1567 e2-1567 0.001 - - - no_errors 284 0 0 269 56 17.23 154 87 36.1 190 0 0 237 1 0.42 222 0 0 5 7 106055114 106055114 T C SNP FLJ36031 NM_175884.3 human genbank 54_36p -1 validated 3_prime_flanking_region c.*32757 NULL 0.016 - - - no_errors 213 0 0 231 1 0.43 209 0 0 150 6 3.82 102 62 37.8 156 0 0 6 7 106111173 106111173 A C SNP FLJ36031 NM_175884.3 human genbank 54_36p -1 validated 5_prime_flanking_region c.-22595 NULL 0.013 - - - no_errors 131 62 32.12 201 47 18.95 103 88 46.07 99 57 36.54 106 64 37.65 105 29 21.64 1 7 106336549 106336549 T A SNP PIK3CG NM_002649.2 human genbank 54_36p 1 reviewed 3_prime_flanking_region c.*3481 NULL 0.003 - - - no_errors 169 1 0.59 166 0 0 142 28 16.47 123 0 0 126 0 0 108 0 0 9 7 107333266 107333266 C G SNP DLD NM_000108.3 human genbank 54_36p 1 reviewed intronic c.582+81 e7+81 0.015 - - - no_errors 270 0 0 337 0 0 237 0 0 181 1 0.55 140 67 32.37 179 1 0.56 6 7 107452067 107452067 T G SNP LAMB4 NM_007356.2 human genbank 54_36p -1 validated intronic c.5147-208 e33-208 0.001 - - - no_errors 166 0 0 144 43 22.99 137 0 0 91 0 0 140 1 0.71 118 0 0 8 7 109110120 109110120 G C SNP - - - - - - - - - - - - - - - 125 54 30.17 192 37 16.09 95 65 40.62 78 44 36.07 85 51 37.5 104 31 22.96 1 7 111460900 111460900 T C SNP DOCK4 NM_014705.3 human genbank 54_36p -1 reviewed intronic c.38-29478 e2-29478 0.005 - - - no_errors 285 0 0 339 0 0 255 1 0.39 171 3 1.72 118 82 41 215 0 0 6 7 111615971 111615971 G C SNP DOCK4 NM_014705.3 human genbank 54_36p -1 reviewed intronic c.37+17422 e1+17422 0 - - - no_errors 210 0 0 295 0 0 231 0 0 149 4 2.61 110 70 38.67 189 0 0 6 7 111989127 111989127 C G SNP ENSG00000182965 ENST00000330645 human ensembl 54_36p 1 novel 3_prime_flanking_region c.*40350 NULL 0 - - - no_coding_region:pseudogene 204 0 0 247 2 0.8 176 22 11.11 156 0 0 191 0 0 156 0 0 9 7 112003332 112003332 G A SNP - - - - - - - - - - - - - - - 241 0 0 334 1 0.3 246 1 0.4 174 3 1.69 124 67 35.08 208 0 0 6 7 112057194 112057194 G A SNP - - - - - - - - - - - - - - - 156 100 38.91 372 0 0 246 0 0 108 78 41.94 227 1 0.44 171 0 0 4 7 112487100 112487100 A G SNP GPR85 NM_018970.5 human genbank 54_36p -1 validated 3_prime_flanking_region c.*23800 NULL 0.002 - - - no_errors 328 1 0.3 391 0 0 240 76 24.05 232 0 0 278 0 0 236 0 0 9 7 113907477 113907477 C T SNP FOXP2 NM_148898.2 human genbank 54_36p 1 reviewed intronic c.168+53507 e1+53507 0.004 - - - no_errors 234 1 0.43 218 81 27.09 94 100 51.55 136 0 0 187 0 0 147 0 0 3 7 116191247 116191247 G C SNP MET NM_000245.2 human genbank 54_36p 1 reviewed intronic c.2583+689 e10+689 0.001 - - - no_errors 140 77 35.48 236 0 0 226 0 0 108 44 28.76 182 0 0 167 0 0 4 7 116723056 116723056 C T SNP WNT2 NM_003391.2 human genbank 54_36p -1 reviewed intronic c.853+1846 e4+1846 0.001 - - - no_errors 149 69 31.65 235 0 0 197 0 0 110 57 33.93 165 0 0 154 0 0 4 7 118709984 118709984 G C SNP - - - - - - - - - - - - - - - 143 0 0 205 0 0 151 0 0 83 21 20.19 118 0 0 105 0 0 7 7 119939380 119939380 G C SNP KCND2 NM_012281.2 human genbank 54_36p 1 reviewed intronic c.1116-220813 e2-220813 1 - - - no_errors 137 62 31.16 242 0 0 200 0 0 90 47 34.06 159 0 0 185 0 0 4 7 120300316 120300316 G A SNP TSPAN12 NM_012338.3 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-16263 NULL 0.148 - - - no_errors 400 0 0 490 0 0 339 0 0 180 84 31.82 341 0 0 270 0 0 7 7 121389154 121389154 T A SNP PTPRZ1 NM_002851.2 human genbank 54_36p 1 reviewed intronic c.125-6087 e3-6087 0.002 - - - no_errors 160 87 35.22 337 0 0 250 0 0 111 44 28.21 190 2 1.04 184 0 0 4 7 121619930 121619930 A T SNP AASS ENST00000358954 human ensembl 54_36p -1 known 5_prime_flanking_region c.-58914 NULL 0.005 - - - no_errors 182 2 1.09 174 0 0 80 69 46.31 114 0 0 159 0 0 117 0 0 9 7 122574089 122574089 G A SNP SLC13A1 NM_022444.3 human genbank 54_36p -1 validated intronic c.812+360 e7+360 0 - - - no_errors 288 0 0 345 0 0 264 2 0.75 138 54 27.98 209 0 0 187 0 0 7 7 124677955 124677955 T C SNP RPL31P39 ENST00000393325 human ensembl 54_36p -1 known 3_prime_flanking_region c.*49839 NULL 0.004 - - - no_coding_region:pseudogene 123 65 34.39 175 44 20.09 72 68 48.57 85 35 29.17 86 51 37.23 111 30 21.28 1 7 126817485 126817485 A C SNP ZNF800 NM_176814.3 human genbank 54_36p -1 validated intronic c.61+1302 e1+1302 0.002 - - - no_errors 201 85 29.72 345 0 0 276 0 0 146 80 35.4 264 0 0 203 0 0 4 7 127390523 127390523 G C SNP SND1 NM_014390.2 human genbank 54_36p 1 validated intronic c.1670-27713 e16-27713 0.004 - - - no_errors 244 131 34.93 374 115 23.42 179 171 48.86 181 119 39.67 203 114 35.96 185 74 28.57 1 7 128576668 128576668 G T SNP TSPAN33 NM_178562.2 human genbank 54_36p 1 provisional intronic c.102+4510 e1+4510 0.002 - - - no_errors 244 122 33.33 296 74 20 165 110 40 160 79 33.05 166 83 33.33 179 43 19.37 1 7 128793132 128793132 G A SNP AHCYL2 NM_015328.1 human genbank 54_36p 1 validated intronic c.364-13583 e2-13583 0.001 - - - no_errors 103 46 30.87 171 41 19.25 69 80 53.69 64 48 42.86 95 29 23.39 89 26 22.61 1 7 129004987 129004987 C A SNP NRF1 NM_005011.1 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-79441 NULL 0.008 - - - no_errors 218 4 1.8 167 54 24.43 92 84 47.73 145 0 0 161 0 0 164 0 0 3 7 129709116 129709116 G C SNP CPA2 NM_001869.2 human genbank 54_36p 1 reviewed intronic c.982-64 e10-64 0.027 - - - no_errors 165 84 33.73 305 0 0 248 0 0 118 60 33.71 192 0 0 192 0 0 4 7 129897913 129897913 C A SNP MEST NM_002402.2 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-21478 NULL 0.002 - - - no_errors 114 60 34.48 192 56 22.49 103 93 47.45 107 50 31.85 109 71 39.44 117 29 19.86 1 7 129914387 129914387 C G SNP MEST NM_177524.2 human genbank 54_36p 1 reviewed intronic c.1+915 e0+915 0.001 - - - no_errors 295 0 0 340 0 0 223 32 12.55 220 0 0 271 0 0 242 0 0 9 7 130423905 130423905 G A SNP ENSG00000199627 ENST00000362757 human ensembl 54_36p -1 novel 5_prime_flanking_region c.-33614 NULL 0.043 - - - no_errors 121 57 32.02 161 37 18.69 89 66 42.58 78 43 35.54 96 54 36 87 24 21.62 1 7 130802135 130802135 T G SNP MKLN1 NM_013255.1 human genbank 54_36p 1 validated intronic c.1928+421 e15+421 0 - - - no_errors 202 0 0 303 0 0 191 27 12.39 160 0 0 179 0 0 144 0 0 9 7 131131116 131131116 C T SNP ENSG00000172400 ENST00000305171 human ensembl 54_36p -1 novel 5_prime_flanking_region c.-41796 NULL 0 - - - no_coding_region:pseudogene 240 94 28.14 297 125 29.62 145 146 50.17 150 90 37.5 167 104 38.38 194 54 21.77 1 7 131202501 131202501 T C SNP - - - - - - - - - - - - - - - 268 0 0 243 60 19.8 258 0 0 185 0 0 197 0 0 197 0 0 8 7 132868898 132868898 G T SNP EXOC4 NM_021807.1 human genbank 54_36p 1 reviewed intronic c.1417+53466 e9+53466 0.002 - - - no_errors 251 98 27.92 300 89 22.88 164 119 42.05 133 107 44.58 156 87 35.8 181 52 22.32 1 7 133443482 133443482 G A SNP LRGUK NM_144648.1 human genbank 54_36p 1 provisional 5_prime_flanking_region c.-19179 NULL 0 - - - no_errors 209 146 41.13 343 85 19.86 184 137 42.68 168 82 32.8 158 127 44.56 184 69 27.17 1 7 135254114 135254114 T A SNP LOC100130332 XM_001726675.1 human genbank 54_36p 1 model 5_prime_flanking_region c.-8734 NULL 0.001 - - - no_errors 248 2 0.8 236 66 21.85 138 105 43.21 211 0 0 201 0 0 212 1 0.47 3 7 135702941 135702941 G C SNP - - - - - - - - - - - - - - - 148 66 30.84 231 65 21.96 131 78 37.32 104 63 37.5 124 61 32.97 117 37 23.87 1 7 136758689 136758689 G T SNP DGKI NM_004717.2 human genbank 54_36p -1 reviewed intronic c.2786-11196 e30-11196 0 - - - no_errors 120 51 29.82 211 42 16.6 132 87 39.73 125 53 29.78 106 57 34.97 115 38 24.84 1 7 136950737 136950737 T A SNP DGKI NM_004717.2 human genbank 54_36p -1 reviewed intronic c.993+4373 e8+4373 0.004 - - - no_errors 190 0 0 212 0 0 150 0 0 138 1 0.72 86 60 41.1 130 0 0 6 7 137171774 137171774 A C SNP DGKI NM_004717.2 human genbank 54_36p -1 reviewed intronic c.401+9974 e1+9974 0 - - - no_errors 196 0 0 230 0 0 159 23 12.64 141 0 0 149 0 0 129 0 0 9 7 138787055 138787055 A C SNP LOC100129148 XM_001726722.1 human genbank 54_36p -1 model 5_prime_flanking_region c.-28457 NULL 0.01 - - - no_errors 234 2 0.85 187 60 24.29 138 98 41.35 173 0 0 215 0 0 197 0 0 3 7 139096025 139096025 G T SNP LOC653052 XM_925800.1 human genbank 54_36p -1 model intronic c.19+27848 e1+27848 0 - - - no_errors 68 41 37.61 102 31 23.31 77 30 28.04 54 24 30.77 71 31 30.1 80 28 25.93 1 7 139572873 139572873 C T SNP JHDM1D NM_030647.1 human genbank 54_36p -1 provisional 5_prime_flanking_region c.-49667 NULL 0.002 - - - no_errors 131 52 28.42 181 83 31.32 101 73 41.48 103 55 34.81 104 59 36.2 99 51 34 1 7 140684659 140684659 G A SNP - - - - - - - - - - - - - - - 117 66 36.07 151 58 27.75 102 70 40.46 84 50 37.31 94 53 36.05 95 35 26.92 1 7 140726554 140726554 C G SNP ENSG00000204990 ENST00000378248 human ensembl 54_36p -1 known 3_prime_flanking_region c.*35116 NULL 0 - - - no_errors 113 64 36.16 198 46 18.78 87 78 47.27 84 39 31.71 95 79 45.4 115 29 20.14 1 7 140733376 140733376 A T SNP LOC100131199 XM_001714428.1 human genbank 54_36p 1 model 5_prime_flanking_region c.-43785 NULL 0 - - - no_errors 180 0 0 243 0 0 146 58 28.43 132 0 0 159 0 0 166 0 0 9 7 140921165 140921165 A T SNP AGK NM_018238.3 human genbank 54_36p 1 validated intronic c.102-18250 e2-18250 0 - - - no_errors 425 0 0 477 1 0.21 321 0 0 325 4 1.22 179 112 38.49 247 0 0 6 7 141970436 141970436 A T SNP uc003vzn.2 ENST00000390392 human ensembl 54_36p 1 known 5_prime_flanking_region c.-33867 NULL 0.056 - - - no_stop_codon:bad_bp_length_for_coding_region 150 78 34.21 207 2 0.96 203 1 0.49 101 57 36.08 163 0 0 140 1 0.71 4 7 144547471 144547471 G T SNP - - - - - - - - - - - - - - - 296 1 0.34 349 1 0.29 291 0 0 132 53 28.65 202 0 0 214 0 0 7 7 144553427 144553427 C T SNP - - - - - - - - - - - - - - - 133 57 30 241 0 0 157 0 0 94 37 28.24 140 0 0 141 0 0 4 7 144631667 144631667 G A SNP - - - - - - - - - - - - - - - 166 0 0 126 27 17.65 109 0 0 114 0 0 121 0 0 113 0 0 8 7 144648965 144648965 T G SNP - - - - - - - - - - - - - - - 219 132 37.61 315 113 26.4 173 141 44.9 131 77 37.02 177 106 37.32 192 69 26.44 1 7 145047692 145047692 G C SNP - - - - - - - - - - - - - - - 228 0 0 275 1 0.36 199 0 0 135 1 0.74 101 60 37.27 145 0 0 6 7 145499555 145499555 G C SNP CNTNAP2 NM_014141.4 human genbank 54_36p 1 reviewed intronic c.97+54557 e1+54557 0.002 - - - no_errors 186 0 0 166 37 18.05 131 0 0 124 0 0 150 0 0 132 0 0 8 7 145761123 145761123 G T SNP CNTNAP2 NM_014141.4 human genbank 54_36p 1 reviewed intronic c.97+316125 e1+316125 0.437 - - - no_errors 355 0 0 353 0 0 260 0 0 216 3 1.37 139 59 29.8 218 0 0 6 7 146622310 146622310 A C SNP CNTNAP2 NM_014141.4 human genbank 54_36p 1 reviewed intronic c.1349-5856 e9-5856 0.019 - - - no_errors 87 38 30.4 155 45 22.39 64 58 47.54 80 44 35.48 77 56 41.79 77 23 23 1 7 146911774 146911774 G T SNP CNTNAP2 NM_014141.4 human genbank 54_36p 1 reviewed intronic c.1897+21492 e12+21492 0 - - - no_errors 142 0 0 158 29 15.51 157 1 0.63 94 0 0 127 0 0 114 0 0 8 7 147495911 147495911 A G SNP CNTNAP2 NM_014141.4 human genbank 54_36p 1 reviewed intronic c.2774-4356 e18-4356 0 - - - no_errors 180 1 0.55 185 52 21.85 177 1 0.56 141 0 0 127 0 0 122 0 0 8 7 147977700 147977700 A T SNP CUL1 NM_003592.2 human genbank 54_36p 1 validated 5_prime_flanking_region c.-80448 NULL 0.511 - - - no_errors 263 0 0 316 0 0 233 1 0.43 214 5 2.28 128 69 35.03 200 0 0 6 7 148554467 148554467 G C SNP ZNF212 NM_012256.2 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-13336 NULL 0.703 - - - no_errors 183 1 0.54 221 0 0 89 68 43.31 163 0 0 161 0 0 141 0 0 9 7 149289180 149289180 A C SNP - - - - - - - - - - - - - - - 176 0 0 194 0 0 147 0 0 156 1 0.64 96 58 37.66 139 0 0 6 7 149996770 149996770 T A SNP GIMAP2 NM_015660.2 human genbank 54_36p 1 reviewed 5_prime_flanking_region c.-18311 NULL 0 - - - no_errors 192 90 31.91 359 0 0 255 0 0 140 72 33.96 266 0 0 222 0 0 4 7 150645364 150645364 C T SNP SMARCD3 NM_001003802.1 human genbank 54_36p -1 reviewed 5_prime_flanking_region c.-42193 NULL 0.004 - - - no_errors 181 97 34.89 295 90 23.38 144 126 46.49 134 89 39.91 161 82 33.74 177 64 26.45 1 7 152796034 152796034 G C SNP FLJ42291 XR_040032.1 human genbank 54_36p -1 model 5_prime_flanking_region c.-19071 NULL 0 - - - no_errors 197 2 1.01 207 49 19.14 119 77 39.29 123 3 2.38 81 54 40 153 0 0 2 7 155526899 155526899 G A SNP - - - - - - - - - - - - - - - 169 0 0 153 41 21.13 98 52 34.67 133 0 0 139 0 0 131 1 0.76 5 7 155536914 155536914 C A SNP - - - - - - - - - - - - - - - 94 33 25.98 177 0 0 138 0 0 71 31 30.39 105 1 0.94 108 0 0 4 7 155721074 155721074 C A SNP LOC393076 XR_016902.1 human genbank 54_36p 1 model intronic c.NULL NULL 0 - - - no_errors 115 66 36.46 200 48 19.35 103 83 44.39 91 44 32.35 87 46 34.59 82 41 33.06 1 7 156841870 156841870 C T SNP DNAJB6 NM_058246.2 human genbank 54_36p 1 reviewed intronic c.1-2132 e1-2132 0.003 - - - no_errors 275 1 0.36 310 0 0 181 50 21.65 192 0 0 227 1 0.44 174 0 0 9 7 157323232 157323232 G A SNP PTPRN2 NM_002847.3 human genbank 54_36p -1 reviewed intronic c.1788+60894 e12+60894 0.067 - - - no_errors 88 42 32.31 123 39 24.07 70 69 49.64 61 22 26.51 58 23 28.4 87 20 18.69 1 7 157532394 157532394 T G SNP PTPRN2 NM_002847.3 human genbank 54_36p -1 reviewed intronic c.1723+34357 e11+34357 0.525 - - - no_errors 178 0 0 236 0 0 140 35 19.89 150 0 0 111 0 0 127 0 0 9 7 157777596 157777596 G T SNP PTPRN2 NM_002847.3 human genbank 54_36p -1 reviewed intronic c.277+24676 e3+24676 0.119 - - - no_errors 126 68 35.05 264 2 0.75 212 0 0 129 49 27.53 156 2 1.27 158 0 0 4 7 157841987 157841987 C T SNP PTPRN2 NM_002847.3 human genbank 54_36p -1 reviewed intronic c.164-39602 e3-39602 0.001 - - - no_errors 80 43 34.96 171 51 22.97 87 54 38.3 64 49 43.36 93 42 31.11 87 33 27.5 1 7 158120776 158120776 C T SNP NCAPG2 NM_017760.5 human genbank 54_36p -1 validated intronic c.3381-3606 e27-3606 0.001 - - - no_errors 213 0 0 268 0 0 119 31 20.67 150 0 0 169 0 0 127 0 0 9 7 158145739 158145739 A C SNP NCAPG2 NM_017760.5 human genbank 54_36p -1 validated intronic c.1990-1878 e16-1878 0.002 - - - no_errors 181 0 0 175 46 20.72 206 1 0.48 122 0 0 149 0 0 104 0 0 8 19 2659768 2659768 C T SNP GNG7 NM_052847.2 human genbank 54_36p -1 validated 5_prime_flanking_region c.-188082 NULL 0 - - - no_errors 143 1 0.69 145 34 18.99 73 41 35.96 101 0 0 143 0 0 102 0 0 3 19 3892001 3892001 C T SNP ITGB1BP3 NM_170678.2 human genbank 54_36p 1 validated intronic c.396-68 e6-68 0.004 - - - no_errors 139 3 2.11 145 43 22.87 48 54 52.94 93 0 0 129 0 0 117 0 0 3 19 5285005 5285005 G A SNP PTPRS NM_002850.3 human genbank 54_36p -1 reviewed intronic c.1+6670 e0+6670 0 - - - no_errors 151 2 1.3 144 48 24.87 68 52 43.33 136 2 1.45 83 52 38.52 114 0 0 2 19 6482745 6482745 T A SNP TNFSF9 NM_003811.3 human genbank 54_36p 1 reviewed intronic c.267+431 e1+431 0 - - - no_errors 124 0 0 157 0 0 98 0 0 99 1 1 57 39 40.21 103 0 0 6 19 13229344 13229344 G A SNP CACNA1A ENST00000325084 human ensembl 54_36p -1 known silent c.4413 p.D1471 0.998 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors 104 63 37.72 132 47 26.26 88 43 32.33 77 54 41.22 85 51 37.5 86 35 28.93 1