Annotation Categories of the Plasmid Cluster







Summary of the plasmid cluster

Basic Information about the Plasmid Cluster

  Cluster Information   Plasmid Cluster ID   C2348
  Reference Plasmid   1111525849767596_bin.1__k141_66255
  Reference Plasmid Size   101477
  Reference Plasmid GC Content   0.66
  Reference Plasmid Mobility Type   non-mobilizable





Mutation sites in the plasmid cluster


The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..

mutid gname pos count tissue frequnt biotype consequence impact nucchange aachange
M0038140 ALCMGEHG_00016 14517 13 Skin 0.05 protein_coding missense_variant MODERATE 544C>G His182Asp
M0038141 ALCMGEHG_00016 14773 13 Skin 0.05 protein_coding synonymous_variant LOW 288T>C Phe96Phe
M0038142 ALCMGEHG_00016 14979 12 Skin 0.05 protein_coding synonymous_variant LOW 82T>C Leu28Leu
M0038143 ALCMGEHG_00016 14980 12 Skin 0.05 protein_coding synonymous_variant LOW 81C>A Gly27Gly
M0038144 ALCMGEHG_00016 14983 12 Skin 0.05 protein_coding synonymous_variant LOW 78G>C Ala26Ala
M0038145 ALCMGEHG_00016 14994 12 Skin 0.05 protein_coding missense_variant MODERATE 67G>A Val23Ile
M0038146 ALCMGEHG_00016 14997 12 Skin 0.05 protein_coding missense_variant MODERATE 64A>G Ile22Val
M0038147 ALCMGEHG_00016 15004 12 Skin 0.05 protein_coding synonymous_variant LOW 57G>C Ala19Ala
M0038148 ALCMGEHG_00017 15281 13 Skin 0.05 protein_coding synonymous_variant LOW 747C>A Ala249Ala
M0038149 ALCMGEHG_00017 15284 13 Skin 0.05 protein_coding synonymous_variant LOW 744C>T Phe248Phe
M0038150 ALCMGEHG_00017 15287 13 Skin 0.05 protein_coding synonymous_variant LOW 741C>T Ala247Ala
M0038151 ALCMGEHG_00017 15299 13 Skin 0.05 protein_coding synonymous_variant LOW 729C>T His243His
M0038152 ALCMGEHG_00017 15302 13 Skin 0.05 protein_coding synonymous_variant LOW 726C>G Gly242Gly
M0038153 ALCMGEHG_00017 15305 13 Skin 0.05 protein_coding synonymous_variant LOW 723G>C Ala241Ala
M0038154 ALCMGEHG_00017 15551 4 Skin 0.02 protein_coding synonymous_variant LOW 477A>G Pro159Pro
M0038155 ALCMGEHG_00017 15854 11 Skin 0.04 protein_coding synonymous_variant LOW 174A>G Leu58Leu
M0038156 ALCMGEHG_00017 15958 5 Skin 0.02 protein_coding missense_variant MODERATE 70G>A Ala24Thr
M0038157 ALCMGEHG_00017 15959 5 Skin 0.02 protein_coding synonymous_variant LOW 69C>T Asp23Asp
M0038158 ALCMGEHG_00011 10041 17 Skin 0.07 protein_coding synonymous_variant LOW 528C>G Ala176Ala
M0038159 ALCMGEHG_00011 10221 14 Skin 0.05 protein_coding synonymous_variant LOW 348G>C Pro116Pro
M0038160 ALCMGEHG_00011 10242 11 Skin 0.04 protein_coding missense_variant MODERATE 327C>G Asp109Glu
M0038161 ALCMGEHG_00011 10260 19 Skin 0.07 protein_coding synonymous_variant LOW 309T>C Thr103Thr
M0038162 ALCMGEHG_00011 10289 18 Skin 0.07 protein_coding synonymous_variant LOW 280C>T Leu94Leu
M0038163 ALCMGEHG_00011 10308 14 Skin 0.05 protein_coding synonymous_variant LOW 261T>C Asp87Asp
M0038164 ALCMGEHG_00011 10314 15 Skin 0.06 protein_coding synonymous_variant LOW 255A>G Glu85Glu
M0038165 ALCMGEHG_00011 10354 18 Skin 0.07 protein_coding missense_variant MODERATE 215C>T Thr72Met
M0038166 ALCMGEHG_00011 10355 18 Skin 0.07 protein_coding missense_variant MODERATE 214A>G Thr72Ala
M0038167 ALCMGEHG_00011 10359 18 Skin 0.07 protein_coding synonymous_variant LOW 210G>C Arg70Arg
M0038168 ALCMGEHG_00011 10362 18 Skin 0.07 protein_coding synonymous_variant LOW 207C>T Ala69Ala
M0038169 ALCMGEHG_00009 10816 11 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -2210T>C None
M0038170 ALCMGEHG_00009 10955 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -2349T>C None
M0038171 ALCMGEHG_00053 56584 4 Skin 0.02 protein_coding synonymous_variant LOW 1251C>A Arg417Arg
M0038172 ALCMGEHG_00053 56674 9 Skin 0.04 protein_coding synonymous_variant LOW 1161G>A Gln387Gln
M0038173 ALCMGEHG_00053 56737 6 Skin 0.02 protein_coding synonymous_variant LOW 1098C>T Ala366Ala
M0038174 ALCMGEHG_00053 56818 11 Skin 0.04 protein_coding missense_variant MODERATE 1017A>C Glu339Asp
M0038175 ALCMGEHG_00053 56819 11 Skin 0.04 protein_coding missense_variant MODERATE 1016A>C Glu339Ala
M0038176 ALCMGEHG_00053 57076 13 Skin 0.05 protein_coding synonymous_variant LOW 759C>G Ala253Ala
M0038177 ALCMGEHG_00053 57133 16 Skin 0.06 protein_coding missense_variant MODERATE 702T>G Ile234Met
M0038178 ALCMGEHG_00053 57135 16 Skin 0.06 protein_coding missense_variant MODERATE 700A>G Ile234Val
M0038179 ALCMGEHG_00053 57157 16 Skin 0.06 protein_coding synonymous_variant LOW 678C>G Val226Val
M0038180 ALCMGEHG_00053 57160 16 Skin 0.06 protein_coding synonymous_variant LOW 675T>C Asp225Asp
M0038181 ALCMGEHG_00053 57439 17 Skin 0.07 protein_coding synonymous_variant LOW 396A>G Gln132Gln
M0038182 ALCMGEHG_00053 57442 17 Skin 0.07 protein_coding synonymous_variant LOW 393T>C Gly131Gly
M0038183 ALCMGEHG_00053 57574 3 Skin 0.01 protein_coding synonymous_variant LOW 261G>A Arg87Arg
M0038184 ALCMGEHG_00053 57575 3 Skin 0.01 protein_coding missense_variant MODERATE 260G>A Arg87Lys
M0038185 ALCMGEHG_00053 57691 5 Skin 0.02 protein_coding synonymous_variant LOW 144G>A Lys48Lys
M0038186 ALCMGEHG_00050 57971 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4360G>A None
M0038187 ALCMGEHG_00050 57997 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4386G>A None
M0038188 ALCMGEHG_00050 58004 12 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -4393G>C None
M0038189 ALCMGEHG_00050 58053 11 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4442C>A None
M0038190 ALCMGEHG_00054 58282 18 Skin 0.07 protein_coding synonymous_variant LOW 156T>C Asp52Asp
M0038191 ALCMGEHG_00050 58324 8 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4713T>C None
M0038192 ALCMGEHG_00050 58326 8 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4715A>G None
M0038193 ALCMGEHG_00055 58550 3 Skin 0.01 protein_coding synonymous_variant LOW 51T>G Ala17Ala
M0038194 ALCMGEHG_00055 58643 6 Skin 0.02 protein_coding synonymous_variant LOW 144C>T Arg48Arg
M0038195 ALCMGEHG_00055 58667 5 Skin 0.02 protein_coding synonymous_variant LOW 168A>G Leu56Leu
M0038196 ALCMGEHG_00055 58673 5 Skin 0.02 protein_coding synonymous_variant LOW 174T>C Gly58Gly
M0038197 ALCMGEHG_00055 58757 5 Skin 0.02 protein_coding synonymous_variant LOW 258C>T Arg86Arg
M0038198 ALCMGEHG_00055 59046 3 Skin 0.01 protein_coding missense_variant MODERATE 547A>G Ile183Val
M0038199 ALCMGEHG_00055 59190 4 Skin 0.02 protein_coding missense_variant MODERATE 691G>A Val231Met
M0038200 ALCMGEHG_00051 59335 19 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -5000A>G None
M0038201 ALCMGEHG_00052 59367 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -3176T>G None
M0038202 ALCMGEHG_00053 56311 16 Skin 0.06 protein_coding synonymous_variant LOW 1524C>G Leu508Leu
M0038203 ALCMGEHG_00053 56314 16 Skin 0.06 protein_coding synonymous_variant LOW 1521C>G Thr507Thr
M0038204 ALCMGEHG_00053 56329 12 Skin 0.05 protein_coding synonymous_variant LOW 1506C>G Thr502Thr
M0038205 ALCMGEHG_00053 56685 3 Skin 0.01 protein_coding missense_variant MODERATE 1150A>G Thr384Ala
M0038206 ALCMGEHG_00053 56686 3 Skin 0.01 protein_coding synonymous_variant LOW 1149C>T Pro383Pro
M0038207 ALCMGEHG_00053 56716 10 Skin 0.04 protein_coding synonymous_variant LOW 1119T>C Leu373Leu
M0038208 ALCMGEHG_00053 56720 10 Skin 0.04 protein_coding missense_variant MODERATE 1115A>C Gln372Pro
M0038209 ALCMGEHG_00053 56721 10 Skin 0.04 protein_coding missense_variant MODERATE 1114C>G Gln372Glu
M0038210 ALCMGEHG_00053 56722 10 Skin 0.04 protein_coding synonymous_variant LOW 1113G>C Val371Val
M0038211 ALCMGEHG_00053 57514 9 Skin 0.04 protein_coding synonymous_variant LOW 321C>T Asn107Asn
M0038212 ALCMGEHG_00053 57547 11 Skin 0.04 protein_coding synonymous_variant LOW 288A>G Pro96Pro
M0038213 ALCMGEHG_00056 59903 18 Skin 0.07 protein_coding synonymous_variant LOW 501G>A Leu167Leu
M0038214 ALCMGEHG_00050 52661 4 Skin 0.02 protein_coding synonymous_variant LOW 951C>T Asp317Asp
M0038215 ALCMGEHG_00051 53908 12 Skin 0.05 protein_coding missense_variant MODERATE 428G>C Gly143Ala
M0038216 ALCMGEHG_00051 53909 12 Skin 0.05 protein_coding missense_variant MODERATE 427G>C Gly143Arg
M0038217 ALCMGEHG_00052 55607 7 Skin 0.03 protein_coding synonymous_variant LOW 585G>A Ala195Ala
M0038218 ALCMGEHG_00052 55619 7 Skin 0.03 protein_coding synonymous_variant LOW 573C>G Leu191Leu
M0038219 ALCMGEHG_00052 55634 7 Skin 0.03 protein_coding synonymous_variant LOW 558T>C Ile186Ile
M0038220 ALCMGEHG_00053 56362 4 Skin 0.02 protein_coding synonymous_variant LOW 1473T>C Asp491Asp
M0038221 ALCMGEHG_00053 56399 4 Skin 0.02 protein_coding missense_variant MODERATE 1436C>G Ala479Gly
M0038222 ALCMGEHG_00053 56422 3 Skin 0.01 protein_coding synonymous_variant LOW 1413C>G Thr471Thr
M0038223 ALCMGEHG_00053 56428 4 Skin 0.02 protein_coding synonymous_variant LOW 1407G>T Gly469Gly
M0038224 ALCMGEHG_00053 57058 10 Skin 0.04 protein_coding synonymous_variant LOW 777C>T Ile259Ile
M0038225 ALCMGEHG_00053 57061 10 Skin 0.04 protein_coding synonymous_variant LOW 774A>G Glu258Glu
M0038226 ALCMGEHG_00053 57070 3 Skin 0.01 protein_coding synonymous_variant LOW 765G>A Glu255Glu
M0038227 ALCMGEHG_00053 57091 5 Skin 0.02 protein_coding synonymous_variant LOW 744G>A Glu248Glu
M0038228 ALCMGEHG_00053 57094 5 Skin 0.02 protein_coding synonymous_variant LOW 741C>T Ile247Ile
M0038229 ALCMGEHG_00053 57100 3 Skin 0.01 protein_coding synonymous_variant LOW 735G>C Val245Val
M0038230 ALCMGEHG_00053 57103 3 Skin 0.01 protein_coding synonymous_variant LOW 732G>A Thr244Thr
M0038231 ALCMGEHG_00053 57226 3 Skin 0.01 protein_coding synonymous_variant LOW 609G>C Arg203Arg
M0038232 ALCMGEHG_00053 57229 3 Skin 0.01 protein_coding synonymous_variant LOW 606C>A Ala202Ala
M0038233 ALCMGEHG_00053 57247 5 Skin 0.02 protein_coding synonymous_variant LOW 588T>C Asn196Asn
M0038234 ALCMGEHG_00053 57256 3 Skin 0.01 protein_coding synonymous_variant LOW 579C>T Phe193Phe
M0038235 ALCMGEHG_00053 57265 3 Skin 0.01 protein_coding synonymous_variant LOW 570G>C Gly190Gly
M0038236 ALCMGEHG_00053 57277 3 Skin 0.01 protein_coding synonymous_variant LOW 558C>T Phe186Phe
M0038237 ALCMGEHG_00053 57283 3 Skin 0.01 protein_coding synonymous_variant LOW 552C>G Gly184Gly
M0038238 ALCMGEHG_00053 57293 3 Skin 0.01 protein_coding missense_variant MODERATE 542C>T Thr181Ile
M0038239 ALCMGEHG_00053 57303 3 Skin 0.01 protein_coding missense_variant MODERATE 532A>G Asn178Asp
M0038240 ALCMGEHG_00053 57319 3 Skin 0.01 protein_coding synonymous_variant LOW 516A>G Glu172Glu
M0038241 ALCMGEHG_00053 57732 5 Skin 0.02 protein_coding synonymous_variant LOW 103T>C Leu35Leu
M0038242 ALCMGEHG_00053 57736 3 Skin 0.01 protein_coding synonymous_variant LOW 99C>T Ala33Ala
M0038243 ALCMGEHG_00053 57739 3 Skin 0.01 protein_coding synonymous_variant LOW 96C>G Val32Val
M0038244 ALCMGEHG_00053 57759 5 Skin 0.02 protein_coding missense_variant MODERATE 76T>C Ser26Pro
M0038245 ALCMGEHG_00050 58031 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4420T>C None
M0038246 ALCMGEHG_00055 59142 10 Skin 0.04 protein_coding missense_variant MODERATE 643T>C Phe215Leu
M0038247 ALCMGEHG_00056 59954 3 Skin 0.01 protein_coding synonymous_variant LOW 552A>C Arg184Arg
M0038248 ALCMGEHG_00065 76311 3 Skin 0.01 protein_coding synonymous_variant LOW 570A>G Pro190Pro
M0038249 ALCMGEHG_00065 76327 3 Skin 0.01 protein_coding missense_variant MODERATE 554T>C Val185Ala
M0038250 ALCMGEHG_00065 76329 3 Skin 0.01 protein_coding synonymous_variant LOW 552A>G Gly184Gly
M0038251 ALCMGEHG_00065 76332 3 Skin 0.01 protein_coding synonymous_variant LOW 549C>T Ala183Ala
M0038252 ALCMGEHG_00065 76335 3 Skin 0.01 protein_coding synonymous_variant LOW 546A>G Lys182Lys
M0038253 ALCMGEHG_00065 76338 3 Skin 0.01 protein_coding synonymous_variant LOW 543A>G Lys181Lys
M0038254 ALCMGEHG_00065 76341 3 Skin 0.01 protein_coding synonymous_variant LOW 540G>C Val180Val
M0038255 ALCMGEHG_00065 76343 3 Skin 0.01 protein_coding missense_variant MODERATE 538G>A Val180Met
M0038256 ALCMGEHG_00065 76344 3 Skin 0.01 protein_coding synonymous_variant LOW 537C>T Ala179Ala
M0038257 ALCMGEHG_00065 76565 15 Skin 0.06 protein_coding missense_variant MODERATE 316A>G Ile106Val
M0038258 ALCMGEHG_00065 77917 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -1037C>T None
M0038259 ALCMGEHG_00065 77921 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -1041T>C None
M0038260 ALCMGEHG_00065 77925 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -1045C>G None
M0038261 ALCMGEHG_00067 78064 3 Skin 0.01 protein_coding synonymous_variant LOW 48C>T Ala16Ala
M0038262 ALCMGEHG_00067 78073 6 Skin 0.02 protein_coding synonymous_variant LOW 57A>G Lys19Lys
M0038263 ALCMGEHG_00067 78121 7 Skin 0.03 protein_coding synonymous_variant LOW 105C>T Asp35Asp
M0038264 ALCMGEHG_00067 78134 7 Skin 0.03 protein_coding missense_variant MODERATE 118G>A Val40Met
M0038265 ALCMGEHG_00067 78136 6 Skin 0.02 protein_coding synonymous_variant LOW 120G>T Val40Val
M0038266 ALCMGEHG_00067 78157 11 Skin 0.04 protein_coding synonymous_variant LOW 141C>T Val47Val
M0038267 ALCMGEHG_00067 78200 3 Skin 0.01 protein_coding missense_variant MODERATE 184C>G Gln62Glu
M0038268 ALCMGEHG_00067 78205 3 Skin 0.01 protein_coding synonymous_variant LOW 189C>G Thr63Thr
M0038269 ALCMGEHG_00067 78208 3 Skin 0.01 protein_coding synonymous_variant LOW 192C>T Arg64Arg
M0038270 ALCMGEHG_00067 78218 13 Skin 0.05 protein_coding synonymous_variant LOW 202T>C Leu68Leu
M0038271 ALCMGEHG_00067 78263 6 Skin 0.02 protein_coding missense_variant MODERATE 247G>A Gly83Arg
M0038272 ALCMGEHG_00067 78265 6 Skin 0.02 protein_coding synonymous_variant LOW 249G>T Gly83Gly
M0038273 ALCMGEHG_00067 78271 6 Skin 0.02 protein_coding synonymous_variant LOW 255G>C Ala85Ala
M0038274 ALCMGEHG_00067 78313 6 Skin 0.02 protein_coding synonymous_variant LOW 297C>T Pro99Pro
M0038275 ALCMGEHG_00067 78353 5 Skin 0.02 protein_coding synonymous_variant LOW 337C>T Leu113Leu
M0038276 ALCMGEHG_00067 78388 10 Skin 0.04 protein_coding synonymous_variant LOW 372A>C Gly124Gly
M0038277 ALCMGEHG_00067 78389 9 Skin 0.04 protein_coding missense_variant MODERATE 373A>C Lys125Gln
M0038278 ALCMGEHG_00067 78390 9 Skin 0.04 protein_coding missense_variant MODERATE 374A>G Lys125Arg
M0038279 ALCMGEHG_00067 78391 9 Skin 0.04 protein_coding missense_variant MODERATE 375A>C Lys125Asn
M0038280 ALCMGEHG_00067 78394 9 Skin 0.04 protein_coding synonymous_variant LOW 378C>T Asn126Asn
M0038281 ALCMGEHG_00067 78400 9 Skin 0.04 protein_coding synonymous_variant LOW 384G>C Leu128Leu
M0038282 ALCMGEHG_00067 78428 5 Skin 0.02 protein_coding missense_variant MODERATE 412A>G Ser138Gly
M0038283 ALCMGEHG_00067 78439 8 Skin 0.03 protein_coding synonymous_variant LOW 423C>G Ala141Ala
M0038284 ALCMGEHG_00067 78445 8 Skin 0.03 protein_coding synonymous_variant LOW 429G>C Thr143Thr
M0038285 ALCMGEHG_00067 78448 5 Skin 0.02 protein_coding synonymous_variant LOW 432G>A Thr144Thr
M0038286 ALCMGEHG_00067 78505 7 Skin 0.03 protein_coding synonymous_variant LOW 489G>C Ala163Ala
M0038287 ALCMGEHG_00067 78568 4 Skin 0.02 protein_coding synonymous_variant LOW 552A>G Lys184Lys
M0038288 ALCMGEHG_00067 78586 4 Skin 0.02 protein_coding synonymous_variant LOW 570G>A Glu190Glu
M0038289 ALCMGEHG_00067 78592 5 Skin 0.02 protein_coding synonymous_variant LOW 576T>C Gly192Gly
M0038290 ALCMGEHG_00067 78622 5 Skin 0.02 protein_coding synonymous_variant LOW 606A>G Gly202Gly
M0038291 ALCMGEHG_00067 78631 4 Skin 0.02 protein_coding synonymous_variant LOW 615T>C Leu205Leu
M0038292 ALCMGEHG_00067 78652 5 Skin 0.02 protein_coding synonymous_variant LOW 636T>C Tyr212Tyr
M0038293 ALCMGEHG_00067 78695 3 Skin 0.01 protein_coding synonymous_variant LOW 679T>C Leu227Leu
M0038294 ALCMGEHG_00067 78703 3 Skin 0.01 protein_coding synonymous_variant LOW 687C>G Ala229Ala
M0038295 ALCMGEHG_00067 78706 3 Skin 0.01 protein_coding synonymous_variant LOW 690A>G Gly230Gly
M0038296 ALCMGEHG_00067 78820 3 Skin 0.01 protein_coding synonymous_variant LOW 804T>C Ser268Ser
M0038297 ALCMGEHG_00023 25598 4 Skin 0.02 protein_coding synonymous_variant LOW 1197T>C Gly399Gly
M0038298 ALCMGEHG_00024 26446 16 Skin 0.06 protein_coding synonymous_variant LOW 474G>A Glu158Glu
M0038299 ALCMGEHG_00024 26449 14 Skin 0.05 protein_coding synonymous_variant LOW 477C>G Ala159Ala
M0038300 ALCMGEHG_00024 26482 3 Skin 0.01 protein_coding synonymous_variant LOW 510T>C Arg170Arg
M0038301 ALCMGEHG_00024 26602 4 Skin 0.02 protein_coding synonymous_variant LOW 630A>C Ala210Ala
M0038302 ALCMGEHG_00024 26686 6 Skin 0.02 protein_coding synonymous_variant LOW 714G>C Gly238Gly
M0038303 ALCMGEHG_00024 26689 6 Skin 0.02 protein_coding synonymous_variant LOW 717T>C Arg239Arg
M0038304 ALCMGEHG_00024 26696 4 Skin 0.02 protein_coding missense_variant MODERATE 724T>A Ser242Thr
M0038305 ALCMGEHG_00024 26697 4 Skin 0.02 protein_coding missense_variant MODERATE 725C>G Ser242Trp
M0038306 ALCMGEHG_00024 26698 4 Skin 0.02 protein_coding synonymous_variant LOW 726G>C Ser242Ser
M0038307 ALCMGEHG_00024 26699 4 Skin 0.02 protein_coding missense_variant MODERATE 727G>C Ala243Pro
M0038308 ALCMGEHG_00024 26704 4 Skin 0.02 protein_coding synonymous_variant LOW 732G>C Leu244Leu
M0038309 ALCMGEHG_00024 26707 4 Skin 0.02 protein_coding synonymous_variant LOW 735G>C Ala245Ala
M0038310 ALCMGEHG_00024 27256 3 Skin 0.01 protein_coding synonymous_variant LOW 1284C>T Ala428Ala
M0038311 ALCMGEHG_00025 27369 4 Skin 0.02 protein_coding synonymous_variant LOW 696G>A Gly232Gly
M0038312 ALCMGEHG_00025 27380 5 Skin 0.02 protein_coding synonymous_variant LOW 685T>C Leu229Leu
M0038313 ALCMGEHG_00025 27394 4 Skin 0.02 protein_coding missense_variant MODERATE 671C>T Pro224Leu
M0038314 ALCMGEHG_00025 27438 5 Skin 0.02 protein_coding synonymous_variant LOW 627C>T Asn209Asn
M0038315 ALCMGEHG_00026 28409 4 Skin 0.02 protein_coding synonymous_variant LOW 36T>C Ala12Ala
M0038316 ALCMGEHG_00059 64502 3 Skin 0.01 protein_coding synonymous_variant LOW 1266T>C Asp422Asp
M0038317 ALCMGEHG_00059 64505 3 Skin 0.01 protein_coding synonymous_variant LOW 1263G>A Gly421Gly
M0038318 ALCMGEHG_00059 64506 3 Skin 0.01 protein_coding missense_variant MODERATE 1262G>A Gly421Glu
M0038319 ALCMGEHG_00059 64507 3 Skin 0.01 protein_coding missense_variant MODERATE 1261G>A Gly421Arg
M0038320 ALCMGEHG_00059 64508 3 Skin 0.01 protein_coding synonymous_variant LOW 1260T>C Ala420Ala
M0038321 ALCMGEHG_00059 64585 3 Skin 0.01 protein_coding missense_variant MODERATE 1183A>G Ser395Gly
M0038322 ALCMGEHG_00059 64733 3 Skin 0.01 protein_coding missense_variant MODERATE 1035G>C Glu345Asp
M0038323 ALCMGEHG_00059 65072 3 Skin 0.01 protein_coding synonymous_variant LOW 696T>C Gly232Gly
M0038324 ALCMGEHG_00059 65219 3 Skin 0.01 protein_coding synonymous_variant LOW 549G>A Ala183Ala
M0038325 ALCMGEHG_00059 65297 5 Skin 0.02 protein_coding synonymous_variant LOW 471A>G Lys157Lys
M0038326 ALCMGEHG_00059 65300 5 Skin 0.02 protein_coding synonymous_variant LOW 468G>C Leu156Leu
M0038327 ALCMGEHG_00059 65303 5 Skin 0.02 protein_coding synonymous_variant LOW 465G>A Thr155Thr
M0038328 ALCMGEHG_00059 65633 8 Skin 0.03 protein_coding synonymous_variant LOW 135T>C Phe45Phe
M0038329 ALCMGEHG_00059 65641 8 Skin 0.03 protein_coding missense_variant MODERATE 127C>A Gln43Lys
M0038330 ALCMGEHG_00059 65642 8 Skin 0.03 protein_coding synonymous_variant LOW 126G>C Gly42Gly
M0038331 ALCMGEHG_00059 65695 7 Skin 0.03 protein_coding missense_variant MODERATE 73G>A Ala25Thr
M0038332 ALCMGEHG_00060 65896 5 Skin 0.02 protein_coding synonymous_variant LOW 1545T>C Ser515Ser
M0038333 ALCMGEHG_00060 66457 5 Skin 0.02 protein_coding synonymous_variant LOW 984G>A Glu328Glu
M0038334 ALCMGEHG_00060 66538 6 Skin 0.02 protein_coding synonymous_variant LOW 903C>G Gly301Gly
M0038335 ALCMGEHG_00060 66544 6 Skin 0.02 protein_coding synonymous_variant LOW 897G>A Glu299Glu
M0038336 ALCMGEHG_00060 66562 6 Skin 0.02 protein_coding synonymous_variant LOW 879C>G Val293Val
M0038337 ALCMGEHG_00060 66565 6 Skin 0.02 protein_coding synonymous_variant LOW 876C>T Ile292Ile
M0038338 ALCMGEHG_00060 66568 6 Skin 0.02 protein_coding synonymous_variant LOW 873C>T Ile291Ile
M0038339 ALCMGEHG_00060 66571 6 Skin 0.02 protein_coding synonymous_variant LOW 870C>G Ala290Ala
M0038340 ALCMGEHG_00060 66577 6 Skin 0.02 protein_coding synonymous_variant LOW 864C>G Val288Val
M0038341 ALCMGEHG_00060 66580 6 Skin 0.02 protein_coding synonymous_variant LOW 861G>A Glu287Glu
M0038342 ALCMGEHG_00060 66589 6 Skin 0.02 protein_coding synonymous_variant LOW 852C>T Pro284Pro
M0038343 ALCMGEHG_00060 66604 6 Skin 0.02 protein_coding synonymous_variant LOW 837T>C Phe279Phe
M0038344 ALCMGEHG_00060 66610 8 Skin 0.03 protein_coding synonymous_variant LOW 831T>C Ser277Ser
M0038345 ALCMGEHG_00060 67030 8 Skin 0.03 protein_coding synonymous_variant LOW 411T>C His137His
M0038346 ALCMGEHG_00060 67033 7 Skin 0.03 protein_coding synonymous_variant LOW 408C>T Gly136Gly
M0038347 ALCMGEHG_00060 67045 6 Skin 0.02 protein_coding synonymous_variant LOW 396A>G Val132Val
M0038348 ALCMGEHG_00060 67060 7 Skin 0.03 protein_coding synonymous_variant LOW 381T>C Phe127Phe
M0038349 ALCMGEHG_00060 67135 5 Skin 0.02 protein_coding synonymous_variant LOW 306C>T Pro102Pro
M0038350 ALCMGEHG_00060 67147 3 Skin 0.01 protein_coding synonymous_variant LOW 294C>T Ser98Ser
M0038351 ALCMGEHG_00060 67150 4 Skin 0.02 protein_coding synonymous_variant LOW 291G>C Thr97Thr
M0038352 ALCMGEHG_00060 67156 4 Skin 0.02 protein_coding synonymous_variant LOW 285C>G Leu95Leu
M0038353 ALCMGEHG_00060 67174 3 Skin 0.01 protein_coding synonymous_variant LOW 267C>A Ala89Ala
M0038354 ALCMGEHG_00037 38664 8 Skin 0.03 protein_coding synonymous_variant LOW 858G>A Ala286Ala
M0038355 ALCMGEHG_00037 38670 8 Skin 0.03 protein_coding synonymous_variant LOW 852T>C Thr284Thr
M0038356 ALCMGEHG_00037 39048 5 Skin 0.02 protein_coding synonymous_variant LOW 474T>A Ala158Ala
M0038357 ALCMGEHG_00037 39075 3 Skin 0.01 protein_coding synonymous_variant LOW 447C>T Ala149Ala
M0038358 ALCMGEHG_00037 39114 5 Skin 0.02 protein_coding synonymous_variant LOW 408T>C Ala136Ala
M0038359 ALCMGEHG_00037 39167 4 Skin 0.02 protein_coding missense_variant MODERATE 355G>A Glu119Lys
M0038360 ALCMGEHG_00037 39198 5 Skin 0.02 protein_coding synonymous_variant LOW 324G>A Lys108Lys
M0038361 ALCMGEHG_00037 39204 5 Skin 0.02 protein_coding synonymous_variant LOW 318G>A Glu106Glu
M0038362 ALCMGEHG_00037 39216 5 Skin 0.02 protein_coding synonymous_variant LOW 306T>G Arg102Arg
M0038363 ALCMGEHG_00037 39219 5 Skin 0.02 protein_coding synonymous_variant LOW 303C>G Thr101Thr
M0038364 ALCMGEHG_00037 39285 3 Skin 0.01 protein_coding synonymous_variant LOW 237G>T Leu79Leu
M0038365 ALCMGEHG_00037 39288 3 Skin 0.01 protein_coding synonymous_variant LOW 234A>C Thr78Thr
M0038366 ALCMGEHG_00037 39291 3 Skin 0.01 protein_coding synonymous_variant LOW 231C>T Ser77Ser
M0038367 ALCMGEHG_00037 39294 5 Skin 0.02 protein_coding synonymous_variant LOW 228A>G Leu76Leu
M0038368 ALCMGEHG_00037 39306 5 Skin 0.02 protein_coding synonymous_variant LOW 216A>G Val72Val
M0038369 ALCMGEHG_00037 39315 3 Skin 0.01 protein_coding synonymous_variant LOW 207A>G Ala69Ala
M0038370 ALCMGEHG_00037 39351 4 Skin 0.02 protein_coding synonymous_variant LOW 171A>G Leu57Leu
M0038371 ALCMGEHG_00037 39353 4 Skin 0.02 protein_coding synonymous_variant LOW 169C>T Leu57Leu
M0038372 ALCMGEHG_00037 39354 4 Skin 0.02 protein_coding synonymous_variant LOW 168T>A Pro56Pro
M0038373 ALCMGEHG_00037 39357 4 Skin 0.02 protein_coding synonymous_variant LOW 165G>A Gly55Gly
M0038374 ALCMGEHG_00038 40291 4 Skin 0.02 protein_coding synonymous_variant LOW 378T>C Ala126Ala
M0038375 ALCMGEHG_00038 40831 3 Skin 0.01 protein_coding synonymous_variant LOW 918C>T Phe306Phe
M0038376 ALCMGEHG_00039 41037 4 Skin 0.02 protein_coding missense_variant MODERATE 314A>C Asp105Ala
M0038377 ALCMGEHG_00039 41093 4 Skin 0.02 protein_coding synonymous_variant LOW 258T>C Phe86Phe
M0038378 ALCMGEHG_00039 41147 4 Skin 0.02 protein_coding synonymous_variant LOW 204G>A Ser68Ser
M0038379 ALCMGEHG_00039 41153 4 Skin 0.02 protein_coding synonymous_variant LOW 198T>C Asp66Asp
M0038380 ALCMGEHG_00039 41156 4 Skin 0.02 protein_coding synonymous_variant LOW 195A>G Pro65Pro
M0038381 ALCMGEHG_00039 41159 4 Skin 0.02 protein_coding synonymous_variant LOW 192G>A Ala64Ala
M0038382 ALCMGEHG_00039 41162 4 Skin 0.02 protein_coding synonymous_variant LOW 189T>C Asp63Asp
M0038383 ALCMGEHG_00039 41170 4 Skin 0.02 protein_coding missense_variant MODERATE 181A>G Thr61Ala
M0038384 ALCMGEHG_00039 41173 4 Skin 0.02 protein_coding missense_variant MODERATE 178A>T Met60Leu
M0038385 ALCMGEHG_00034 41363 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4972C>T None
M0038386 ALCMGEHG_00034 41369 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4978C>T None
M0038387 ALCMGEHG_00040 41779 4 Skin 0.02 protein_coding synonymous_variant LOW 1026G>A Gly342Gly
M0038388 ALCMGEHG_00001 740 5 Skin 0.02 protein_coding synonymous_variant LOW 333T>C Pro111Pro
M0038389 ALCMGEHG_00001 815 6 Skin 0.02 protein_coding synonymous_variant LOW 408T>C Ala136Ala
M0038390 ALCMGEHG_00001 818 6 Skin 0.02 protein_coding synonymous_variant LOW 411A>G Glu137Glu
M0038391 ALCMGEHG_00001 819 6 Skin 0.02 protein_coding synonymous_variant LOW 412C>T Leu138Leu
M0038392 ALCMGEHG_00001 821 6 Skin 0.02 protein_coding synonymous_variant LOW 414G>A Leu138Leu
M0038393 ALCMGEHG_00001 860 3 Skin 0.01 protein_coding synonymous_variant LOW 453G>T Pro151Pro
M0038394 ALCMGEHG_00001 1136 5 Skin 0.02 protein_coding synonymous_variant LOW 729C>T Thr243Thr
M0038395 ALCMGEHG_00001 1193 3 Skin 0.01 protein_coding synonymous_variant LOW 786G>C Ala262Ala
M0038396 ALCMGEHG_00001 1217 3 Skin 0.01 protein_coding synonymous_variant LOW 810T>C Ala270Ala
M0038397 ALCMGEHG_00002 1658 4 Skin 0.02 protein_coding missense_variant MODERATE 148C>T Pro50Ser
M0038398 ALCMGEHG_00002 1690 4 Skin 0.02 protein_coding synonymous_variant LOW 180A>G Glu60Glu
M0038399 ALCMGEHG_00002 1691 4 Skin 0.02 protein_coding missense_variant MODERATE 181G>T Val61Phe
M0038400 ALCMGEHG_00002 2020 3 Skin 0.01 protein_coding synonymous_variant LOW 510C>T Ala170Ala
M0038401 ALCMGEHG_00002 2040 3 Skin 0.01 protein_coding missense_variant MODERATE 530C>T Ala177Val
M0038402 ALCMGEHG_00002 2041 3 Skin 0.01 protein_coding synonymous_variant LOW 531A>G Ala177Ala
M0038403 ALCMGEHG_00002 2050 3 Skin 0.01 protein_coding synonymous_variant LOW 540A>G Leu180Leu
M0038404 ALCMGEHG_00002 2057 3 Skin 0.01 protein_coding missense_variant MODERATE 547C>T Leu183Phe
M0038405 ALCMGEHG_00002 2092 3 Skin 0.01 protein_coding synonymous_variant LOW 582C>T Tyr194Tyr
M0038406 ALCMGEHG_00002 2197 3 Skin 0.01 protein_coding synonymous_variant LOW 687G>A Gly229Gly
M0038407 ALCMGEHG_00002 2212 3 Skin 0.01 protein_coding synonymous_variant LOW 702C>G Ala234Ala
M0038408 ALCMGEHG_00034 35907 11 Skin 0.04 protein_coding missense_variant MODERATE 485A>G Gln162Arg
M0038409 ALCMGEHG_00034 35909 11 Skin 0.04 protein_coding synonymous_variant LOW 483G>C Thr161Thr
M0038410 ALCMGEHG_00034 35926 11 Skin 0.04 protein_coding missense_variant MODERATE 466A>G Thr156Ala
M0038411 ALCMGEHG_00034 35927 11 Skin 0.04 protein_coding synonymous_variant LOW 465G>C Ala155Ala
M0038412 ALCMGEHG_00034 35930 11 Skin 0.04 protein_coding synonymous_variant LOW 462C>T Asp154Asp
M0038413 ALCMGEHG_00034 35948 5 Skin 0.02 protein_coding synonymous_variant LOW 444G>A Lys148Lys
M0038414 ALCMGEHG_00034 35958 5 Skin 0.02 protein_coding missense_variant MODERATE 434A>G Asp145Gly
M0038415 ALCMGEHG_00034 35963 5 Skin 0.02 protein_coding synonymous_variant LOW 429G>A Gly143Gly
M0038416 ALCMGEHG_00034 35981 5 Skin 0.02 protein_coding synonymous_variant LOW 411G>A Thr137Thr
M0038417 ALCMGEHG_00034 35996 5 Skin 0.02 protein_coding synonymous_variant LOW 396C>T Tyr132Tyr
M0038418 ALCMGEHG_00034 36000 5 Skin 0.02 protein_coding missense_variant MODERATE 392C>G Ala131Gly
M0038419 ALCMGEHG_00034 36001 5 Skin 0.02 protein_coding missense_variant MODERATE 391G>A Ala131Thr
M0038420 ALCMGEHG_00034 36009 5 Skin 0.02 protein_coding missense_variant MODERATE 383A>G Asn128Ser
M0038421 ALCMGEHG_00034 36036 3 Skin 0.01 protein_coding missense_variant MODERATE 356T>C Val119Ala
M0038422 ALCMGEHG_00034 36041 5 Skin 0.02 protein_coding synonymous_variant LOW 351C>A Gly117Gly
M0038423 ALCMGEHG_00035 36626 10 Skin 0.04 protein_coding synonymous_variant LOW 57C>T Ser19Ser
M0038424 ALCMGEHG_00035 36632 10 Skin 0.04 protein_coding synonymous_variant LOW 63A>T Ala21Ala
M0038425 ALCMGEHG_00035 36833 9 Skin 0.04 protein_coding synonymous_variant LOW 264T>G Leu88Leu
M0038426 ALCMGEHG_00035 37064 11 Skin 0.04 protein_coding synonymous_variant LOW 495T>C Gly165Gly
M0038427 ALCMGEHG_00035 37163 11 Skin 0.04 protein_coding synonymous_variant LOW 594A>G Gly198Gly
M0038428 ALCMGEHG_00035 37175 11 Skin 0.04 protein_coding synonymous_variant LOW 606T>C Phe202Phe
M0038429 ALCMGEHG_00035 37303 11 Skin 0.04 protein_coding missense_variant MODERATE 734A>G Gln245Arg
M0038430 ALCMGEHG_00035 37367 12 Skin 0.05 protein_coding synonymous_variant LOW 798C>T Arg266Arg
M0038431 ALCMGEHG_00035 37376 12 Skin 0.05 protein_coding synonymous_variant LOW 807G>T Leu269Leu
M0038432 ALCMGEHG_00035 37397 12 Skin 0.05 protein_coding synonymous_variant LOW 828C>G Leu276Leu
M0038433 ALCMGEHG_00035 37400 12 Skin 0.05 protein_coding synonymous_variant LOW 831C>T Asp277Asp
M0038434 ALCMGEHG_00036 37695 13 Skin 0.05 protein_coding missense_variant MODERATE 910A>G Thr304Ala
M0038435 ALCMGEHG_00036 37728 13 Skin 0.05 protein_coding missense_variant MODERATE 877G>A Ala293Thr
M0038436 ALCMGEHG_00036 37741 10 Skin 0.04 protein_coding synonymous_variant LOW 864G>A Pro288Pro
M0038437 ALCMGEHG_00036 37747 10 Skin 0.04 protein_coding synonymous_variant LOW 858G>A Gly286Gly
M0038438 ALCMGEHG_00036 37759 10 Skin 0.04 protein_coding synonymous_variant LOW 846A>G Lys282Lys
M0038439 ALCMGEHG_00036 37762 10 Skin 0.04 protein_coding synonymous_variant LOW 843G>A Lys281Lys
M0038440 ALCMGEHG_00036 37765 10 Skin 0.04 protein_coding synonymous_variant LOW 840C>T Leu280Leu
M0038441 ALCMGEHG_00036 37825 13 Skin 0.05 protein_coding synonymous_variant LOW 780T>C Leu260Leu
M0038442 ALCMGEHG_00036 37882 10 Skin 0.04 protein_coding synonymous_variant LOW 723G>A Ser241Ser
M0038443 ALCMGEHG_00036 37905 10 Skin 0.04 protein_coding missense_variant MODERATE 700G>A Ala234Thr
M0038444 ALCMGEHG_00036 37927 4 Skin 0.02 protein_coding synonymous_variant LOW 678G>C Val226Val
M0038445 ALCMGEHG_00087 99215 8 Skin 0.03 protein_coding synonymous_variant LOW 714A>G Glu238Glu
M0038446 ALCMGEHG_00087 99241 8 Skin 0.03 protein_coding missense_variant MODERATE 688A>C Ser230Arg
M0038447 ALCMGEHG_00087 99293 9 Skin 0.04 protein_coding synonymous_variant LOW 636T>C Leu212Leu
M0038448 ALCMGEHG_00087 99344 10 Skin 0.04 protein_coding synonymous_variant LOW 585G>A Gly195Gly
M0038449 ALCMGEHG_00087 99356 10 Skin 0.04 protein_coding synonymous_variant LOW 573T>C Ser191Ser
M0038450 ALCMGEHG_00087 99587 6 Skin 0.02 protein_coding synonymous_variant LOW 342C>T Gly114Gly
M0038451 ALCMGEHG_00087 99590 3 Skin 0.01 protein_coding synonymous_variant LOW 339C>T Pro113Pro
M0038452 ALCMGEHG_00088 100264 3 Skin 0.01 protein_coding missense_variant MODERATE 209G>A Gly70Asp
M0038453 ALCMGEHG_00086 101184 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -2191G>T None
M0038454 ALCMGEHG_00086 101189 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -2196A>G None
M0038455 ALCMGEHG_00086 101195 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -2202C>T None
M0038456 ALCMGEHG_00086 101197 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -2204T>C None
M0038457 ALCMGEHG_00086 101201 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -2208G>A None
M0038458 ALCMGEHG_00086 101203 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -2210A>G None
M0038459 ALCMGEHG_00086 101290 8 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -2297G>A None
M0038460 ALCMGEHG_00072 84058 3 Skin 0.01 protein_coding missense_variant MODERATE 103G>T Ala35Ser
M0038461 ALCMGEHG_00071 84242 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -831T>C None
M0038462 ALCMGEHG_00073 84536 4 Skin 0.02 protein_coding synonymous_variant LOW 198G>A Lys66Lys
M0038463 ALCMGEHG_00071 84929 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -1518A>G None
M0038464 ALCMGEHG_00071 84931 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -1520T>C None
M0038465 ALCMGEHG_00074 85437 3 Skin 0.01 protein_coding synonymous_variant LOW 465A>G Ala155Ala
M0038466 ALCMGEHG_00074 85485 3 Skin 0.01 protein_coding synonymous_variant LOW 513T>C Thr171Thr
M0038467 ALCMGEHG_00071 85556 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -2145G>T None
M0038468 ALCMGEHG_00071 85558 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -2147A>C None
M0038469 ALCMGEHG_00071 85561 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -2150A>T None
M0038470 ALCMGEHG_00071 85572 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -2161C>T None
M0038471 ALCMGEHG_00071 85581 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -2170A>G None
M0038472 ALCMGEHG_00071 85588 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -2177T>C None
M0038473 ALCMGEHG_00071 86801 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -3390T>C None
M0038474 ALCMGEHG_00076 86846 4 Skin 0.02 protein_coding synonymous_variant LOW 43A>C Arg15Arg
M0038475 ALCMGEHG_00076 87090 3 Skin 0.01 protein_coding missense_variant MODERATE 287A>G Glu96Gly
M0038476 ALCMGEHG_00076 87367 3 Skin 0.01 protein_coding synonymous_variant LOW 564T>C Arg188Arg
M0038477 ALCMGEHG_00076 87370 3 Skin 0.01 protein_coding synonymous_variant LOW 567G>C Gly189Gly
M0038478 ALCMGEHG_00076 87643 4 Skin 0.02 protein_coding synonymous_variant LOW 840C>T Asp280Asp
M0038479 ALCMGEHG_00076 87646 4 Skin 0.02 protein_coding synonymous_variant LOW 843C>G Ala281Ala
M0038480 ALCMGEHG_00076 87649 4 Skin 0.02 protein_coding synonymous_variant LOW 846C>T Tyr282Tyr
M0038481 ALCMGEHG_00076 87655 6 Skin 0.02 protein_coding synonymous_variant LOW 852C>G Gly284Gly
M0038482 ALCMGEHG_00071 87873 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4462C>T None
M0038483 ALCMGEHG_00077 88108 11 Skin 0.04 protein_coding synonymous_variant LOW 75T>C Gly25Gly
M0038484 ALCMGEHG_00077 88123 11 Skin 0.04 protein_coding synonymous_variant LOW 90C>T Arg30Arg
M0038485 ALCMGEHG_00077 88174 9 Skin 0.04 protein_coding synonymous_variant LOW 141G>A Gln47Gln
M0038486 ALCMGEHG_00077 88179 11 Skin 0.04 protein_coding missense_variant MODERATE 146C>G Thr49Arg
M0038487 ALCMGEHG_00077 88186 11 Skin 0.04 protein_coding synonymous_variant LOW 153C>G Thr51Thr
M0038488 ALCMGEHG_00077 88228 11 Skin 0.04 protein_coding synonymous_variant LOW 195C>T Tyr65Tyr
M0038489 ALCMGEHG_00077 88318 11 Skin 0.04 protein_coding synonymous_variant LOW 285A>G Glu95Glu
M0038490 ALCMGEHG_00077 88324 11 Skin 0.04 protein_coding synonymous_variant LOW 291T>C Thr97Thr
M0038491 ALCMGEHG_00077 88351 11 Skin 0.04 protein_coding synonymous_variant LOW 318A>G Thr106Thr
M0038492 ALCMGEHG_00077 88354 11 Skin 0.04 protein_coding synonymous_variant LOW 321A>T Gly107Gly
M0038493 ALCMGEHG_00024 26938 4 Skin 0.02 protein_coding synonymous_variant LOW 966T>C Ala322Ala
M0038494 ALCMGEHG_00024 27001 3 Skin 0.01 protein_coding missense_variant MODERATE 1029G>A Met343Ile
M0038495 ALCMGEHG_00027 28480 7 Skin 0.03 protein_coding synonymous_variant LOW 348T>G Thr116Thr
M0038496 ALCMGEHG_00027 28486 7 Skin 0.03 protein_coding synonymous_variant LOW 342A>G Ala114Ala
M0038497 ALCMGEHG_00025 30765 8 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -2701G>A None
M0038498 ALCMGEHG_00030 30825 4 Skin 0.02 protein_coding missense_variant MODERATE 925G>A Gly309Ser
M0038499 ALCMGEHG_00030 30898 4 Skin 0.02 protein_coding synonymous_variant LOW 852C>T Arg284Arg
M0038500 ALCMGEHG_00030 30918 8 Skin 0.03 protein_coding synonymous_variant LOW 832C>T Leu278Leu
M0038501 ALCMGEHG_00030 30949 6 Skin 0.02 protein_coding synonymous_variant LOW 801G>C Thr267Thr
M0038502 ALCMGEHG_00030 30954 6 Skin 0.02 protein_coding missense_variant MODERATE 796G>A Val266Ile
M0038503 ALCMGEHG_00030 30958 6 Skin 0.02 protein_coding synonymous_variant LOW 792C>T Asp264Asp
M0038504 ALCMGEHG_00030 30985 6 Skin 0.02 protein_coding synonymous_variant LOW 765C>G Gly255Gly
M0038505 ALCMGEHG_00030 30991 6 Skin 0.02 protein_coding synonymous_variant LOW 759T>C Pro253Pro
M0038506 ALCMGEHG_00030 31036 3 Skin 0.01 protein_coding synonymous_variant LOW 714G>A Gly238Gly
M0038507 ALCMGEHG_00030 31039 3 Skin 0.01 protein_coding synonymous_variant LOW 711A>C Pro237Pro
M0038508 ALCMGEHG_00030 31042 3 Skin 0.01 protein_coding synonymous_variant LOW 708G>C Gly236Gly
M0038509 ALCMGEHG_00030 31108 5 Skin 0.02 protein_coding synonymous_variant LOW 642G>C Ala214Ala
M0038510 ALCMGEHG_00030 31327 5 Skin 0.02 protein_coding missense_variant MODERATE 423G>T Leu141Phe
M0038511 ALCMGEHG_00030 31329 5 Skin 0.02 protein_coding synonymous_variant LOW 421T>C Leu141Leu
M0038512 ALCMGEHG_00030 31330 5 Skin 0.02 protein_coding synonymous_variant LOW 420G>C Gly140Gly
M0038513 ALCMGEHG_00030 31339 5 Skin 0.02 protein_coding synonymous_variant LOW 411T>G Arg137Arg
M0038514 ALCMGEHG_00030 31360 5 Skin 0.02 protein_coding missense_variant MODERATE 390G>T Leu130Phe
M0038515 ALCMGEHG_00030 31362 5 Skin 0.02 protein_coding synonymous_variant LOW 388T>C Leu130Leu
M0038516 ALCMGEHG_00030 31372 5 Skin 0.02 protein_coding synonymous_variant LOW 378C>T Tyr126Tyr
M0038517 ALCMGEHG_00030 31375 5 Skin 0.02 protein_coding synonymous_variant LOW 375C>T Thr125Thr
M0038518 ALCMGEHG_00030 31381 5 Skin 0.02 protein_coding synonymous_variant LOW 369C>T Val123Val
M0038519 ALCMGEHG_00030 31420 8 Skin 0.03 protein_coding synonymous_variant LOW 330G>A Gln110Gln
M0038520 ALCMGEHG_00030 31425 4 Skin 0.02 protein_coding synonymous_variant LOW 325T>C Leu109Leu
M0038521 ALCMGEHG_00030 31435 4 Skin 0.02 protein_coding synonymous_variant LOW 315G>A Lys105Lys
M0038522 ALCMGEHG_00031 32347 8 Skin 0.03 protein_coding missense_variant MODERATE 1126G>C Glu376Gln
M0038523 ALCMGEHG_00031 32357 8 Skin 0.03 protein_coding synonymous_variant LOW 1116T>C Arg372Arg
M0038524 ALCMGEHG_00031 32368 11 Skin 0.04 protein_coding missense_variant MODERATE 1105A>G Ile369Val
M0038525 ALCMGEHG_00031 32386 8 Skin 0.03 protein_coding missense_variant MODERATE 1087G>A Val363Ile
M0038526 ALCMGEHG_00031 32408 11 Skin 0.04 protein_coding synonymous_variant LOW 1065G>T Ala355Ala
M0038527 ALCMGEHG_00031 32411 11 Skin 0.04 protein_coding synonymous_variant LOW 1062C>T Val354Val
M0038528 ALCMGEHG_00031 32413 11 Skin 0.04 protein_coding missense_variant MODERATE 1060G>A Val354Ile
M0038529 ALCMGEHG_00031 32435 11 Skin 0.04 protein_coding synonymous_variant LOW 1038A>G Gln346Gln
M0038530 ALCMGEHG_00031 32438 11 Skin 0.04 protein_coding synonymous_variant LOW 1035G>A Gly345Gly
M0038531 ALCMGEHG_00031 32450 11 Skin 0.04 protein_coding synonymous_variant LOW 1023C>G Ala341Ala
M0038532 ALCMGEHG_00031 32453 11 Skin 0.04 protein_coding synonymous_variant LOW 1020C>T Asn340Asn
M0038533 ALCMGEHG_00031 32462 11 Skin 0.04 protein_coding synonymous_variant LOW 1011C>T Ser337Ser
M0038534 ALCMGEHG_00031 32465 11 Skin 0.04 protein_coding synonymous_variant LOW 1008G>A Gln336Gln
M0038535 ALCMGEHG_00031 32483 11 Skin 0.04 protein_coding synonymous_variant LOW 990C>A Ala330Ala
M0038536 ALCMGEHG_00031 32543 13 Skin 0.05 protein_coding synonymous_variant LOW 930G>C Thr310Thr
M0038537 ALCMGEHG_00031 32582 16 Skin 0.06 protein_coding synonymous_variant LOW 891A>G Leu297Leu
M0038538 ALCMGEHG_00031 32591 13 Skin 0.05 protein_coding missense_variant MODERATE 882T>G Ile294Met
M0038539 ALCMGEHG_00031 32593 13 Skin 0.05 protein_coding missense_variant MODERATE 880A>G Ile294Val
M0038540 ALCMGEHG_00031 32594 13 Skin 0.05 protein_coding synonymous_variant LOW 879C>T Arg293Arg
M0038541 ALCMGEHG_00031 32633 15 Skin 0.06 protein_coding synonymous_variant LOW 840C>T Ala280Ala
M0038542 ALCMGEHG_00031 32645 16 Skin 0.06 protein_coding synonymous_variant LOW 828T>C Asp276Asp
M0038543 ALCMGEHG_00031 32666 16 Skin 0.06 protein_coding synonymous_variant LOW 807C>T His269His
M0038544 ALCMGEHG_00031 32676 16 Skin 0.06 protein_coding missense_variant MODERATE 797C>G Pro266Arg
M0038545 ALCMGEHG_00031 32687 16 Skin 0.06 protein_coding synonymous_variant LOW 786A>G Ala262Ala
M0038546 ALCMGEHG_00031 32723 17 Skin 0.07 protein_coding synonymous_variant LOW 750G>C Pro250Pro
M0038547 ALCMGEHG_00031 32726 17 Skin 0.07 protein_coding synonymous_variant LOW 747A>C Thr249Thr
M0038548 ALCMGEHG_00031 32735 17 Skin 0.07 protein_coding synonymous_variant LOW 738T>C Pro246Pro
M0038549 ALCMGEHG_00031 32778 17 Skin 0.07 protein_coding missense_variant MODERATE 695C>A Ala232Glu
M0038550 ALCMGEHG_00031 32789 17 Skin 0.07 protein_coding synonymous_variant LOW 684G>C Thr228Thr
M0038551 ALCMGEHG_00031 32792 16 Skin 0.06 protein_coding synonymous_variant LOW 681T>C Ser227Ser
M0038552 ALCMGEHG_00031 32793 16 Skin 0.06 protein_coding missense_variant MODERATE 680G>C Ser227Thr
M0038553 ALCMGEHG_00031 32794 16 Skin 0.06 protein_coding missense_variant MODERATE 679A>T Ser227Cys
M0038554 ALCMGEHG_00031 32828 17 Skin 0.07 protein_coding synonymous_variant LOW 645G>C Thr215Thr
M0038555 ALCMGEHG_00031 32936 17 Skin 0.07 protein_coding synonymous_variant LOW 537C>G Val179Val
M0038556 ALCMGEHG_00031 33347 14 Skin 0.05 protein_coding synonymous_variant LOW 126G>A Gln42Gln
M0038557 ALCMGEHG_00031 33350 14 Skin 0.05 protein_coding synonymous_variant LOW 123G>C Gly41Gly
M0038558 ALCMGEHG_00031 33359 14 Skin 0.05 protein_coding synonymous_variant LOW 114T>C Tyr38Tyr
M0038559 ALCMGEHG_00033 35072 10 Skin 0.04 protein_coding synonymous_variant LOW 513C>T Asn171Asn
M0038560 ALCMGEHG_00033 35087 10 Skin 0.04 protein_coding synonymous_variant LOW 498A>G Val166Val
M0038561 ALCMGEHG_00033 35090 10 Skin 0.04 protein_coding synonymous_variant LOW 495G>T Gly165Gly
M0038562 ALCMGEHG_00033 35093 10 Skin 0.04 protein_coding synonymous_variant LOW 492C>G Val164Val
M0038563 ALCMGEHG_00033 35102 11 Skin 0.04 protein_coding synonymous_variant LOW 483C>T Ile161Ile
M0038564 ALCMGEHG_00033 35105 11 Skin 0.04 protein_coding synonymous_variant LOW 480C>G Pro160Pro
M0038565 ALCMGEHG_00033 35111 7 Skin 0.03 protein_coding synonymous_variant LOW 474C>T Arg158Arg
M0038566 ALCMGEHG_00033 35120 7 Skin 0.03 protein_coding synonymous_variant LOW 465T>C Tyr155Tyr
M0038567 ALCMGEHG_00033 35132 7 Skin 0.03 protein_coding synonymous_variant LOW 453C>G Gly151Gly
M0038568 ALCMGEHG_00033 35222 10 Skin 0.04 protein_coding synonymous_variant LOW 363A>G Lys121Lys
M0038569 ALCMGEHG_00033 35522 4 Skin 0.02 protein_coding synonymous_variant LOW 63C>A Arg21Arg
M0038570 ALCMGEHG_00033 35526 4 Skin 0.02 protein_coding missense_variant MODERATE 59G>A Ser20Asn
M0038571 ALCMGEHG_00033 35528 4 Skin 0.02 protein_coding synonymous_variant LOW 57G>A Glu19Glu
M0038572 ALCMGEHG_00033 35537 4 Skin 0.02 protein_coding synonymous_variant LOW 48G>A Gln16Gln
M0038573 ALCMGEHG_00033 35543 4 Skin 0.02 protein_coding synonymous_variant LOW 42C>G Leu14Leu
M0038574 ALCMGEHG_00033 35549 4 Skin 0.02 protein_coding synonymous_variant LOW 36C>T Asp12Asp
M0038575 ALCMGEHG_00033 35561 6 Skin 0.02 protein_coding synonymous_variant LOW 24A>G Gln8Gln
M0038576 ALCMGEHG_00033 35576 7 Skin 0.03 protein_coding missense_variant MODERATE 9C>A Asn3Lys
M0038577 ALCMGEHG_00056 60434 4 Skin 0.02 protein_coding synonymous_variant LOW 1032A>G Gly344Gly
M0038578 ALCMGEHG_00056 60497 5 Skin 0.02 protein_coding synonymous_variant LOW 1095T>C Thr365Thr
M0038579 ALCMGEHG_00056 60500 5 Skin 0.02 protein_coding synonymous_variant LOW 1098G>A Gly366Gly
M0038580 ALCMGEHG_00056 60566 5 Skin 0.02 protein_coding synonymous_variant LOW 1164T>C Phe388Phe
M0038581 ALCMGEHG_00056 60572 5 Skin 0.02 protein_coding synonymous_variant LOW 1170A>G Ala390Ala
M0038582 ALCMGEHG_00056 60605 4 Skin 0.02 protein_coding synonymous_variant LOW 1203G>A Pro401Pro
M0038583 ALCMGEHG_00056 60791 3 Skin 0.01 protein_coding synonymous_variant LOW 1389A>G Glu463Glu
M0038584 ALCMGEHG_00056 61520 3 Skin 0.01 protein_coding synonymous_variant LOW 2118C>G Ala706Ala
M0038585 ALCMGEHG_00056 61562 3 Skin 0.01 protein_coding synonymous_variant LOW 2160T>C Gly720Gly
M0038586 ALCMGEHG_00065 76428 3 Skin 0.01 protein_coding synonymous_variant LOW 453G>A Gln151Gln
M0038587 ALCMGEHG_00065 76644 3 Skin 0.01 protein_coding synonymous_variant LOW 237G>A Lys79Lys
M0038588 ALCMGEHG_00065 76955 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -75A>G None
M0038589 ALCMGEHG_00065 76956 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -76T>C None
M0038590 ALCMGEHG_00065 76962 10 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -82T>C None
M0038591 ALCMGEHG_00065 76971 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -91C>T None
M0038592 ALCMGEHG_00067 78152 8 Skin 0.03 protein_coding missense_variant MODERATE 136A>G Ser46Gly
M0038593 ALCMGEHG_00067 78163 8 Skin 0.03 protein_coding synonymous_variant LOW 147G>C Leu49Leu
M0038594 ALCMGEHG_00067 78166 8 Skin 0.03 protein_coding synonymous_variant LOW 150C>G Ala50Ala
M0038595 ALCMGEHG_00067 78172 8 Skin 0.03 protein_coding synonymous_variant LOW 156G>A Glu52Glu
M0038596 ALCMGEHG_00067 78181 9 Skin 0.04 protein_coding synonymous_variant LOW 165C>T Leu55Leu
M0038597 ALCMGEHG_00067 78215 9 Skin 0.04 protein_coding synonymous_variant LOW 199C>T Leu67Leu
M0038598 ALCMGEHG_00067 78258 7 Skin 0.03 protein_coding missense_variant MODERATE 242A>C Gln81Pro
M0038599 ALCMGEHG_00067 78259 7 Skin 0.03 protein_coding synonymous_variant LOW 243A>G Gln81Gln
M0038600 ALCMGEHG_00067 78277 7 Skin 0.03 protein_coding synonymous_variant LOW 261C>T Arg87Arg
M0038601 ALCMGEHG_00067 78289 7 Skin 0.03 protein_coding synonymous_variant LOW 273C>G Leu91Leu
M0038602 ALCMGEHG_00067 78292 7 Skin 0.03 protein_coding synonymous_variant LOW 276T>A Arg92Arg
M0038603 ALCMGEHG_00067 78296 7 Skin 0.03 protein_coding missense_variant MODERATE 280G>A Val94Ile
M0038604 ALCMGEHG_00067 78298 7 Skin 0.03 protein_coding synonymous_variant LOW 282T>C Val94Val
M0038605 ALCMGEHG_00067 78305 7 Skin 0.03 protein_coding missense_variant MODERATE 289A>C Ile97Leu
M0038606 ALCMGEHG_00067 78307 7 Skin 0.03 protein_coding synonymous_variant LOW 291T>C Ile97Ile
M0038607 ALCMGEHG_00067 78308 7 Skin 0.03 protein_coding missense_variant MODERATE 292G>T Ala98Ser
M0038608 ALCMGEHG_00067 78412 6 Skin 0.02 protein_coding synonymous_variant LOW 396A>G Leu132Leu
M0038609 ALCMGEHG_00067 79154 8 Skin 0.03 protein_coding missense_variant MODERATE 1138A>G Asn380Asp
M0038610 ALCMGEHG_00067 79183 6 Skin 0.02 protein_coding synonymous_variant LOW 1167C>T Arg389Arg
M0038611 ALCMGEHG_00067 79186 7 Skin 0.03 protein_coding synonymous_variant LOW 1170T>C Ala390Ala
M0038612 ALCMGEHG_00067 79222 5 Skin 0.02 protein_coding synonymous_variant LOW 1206G>C Thr402Thr
M0038613 ALCMGEHG_00067 79231 6 Skin 0.02 protein_coding synonymous_variant LOW 1215C>G Leu405Leu
M0038614 ALCMGEHG_00067 79240 3 Skin 0.01 protein_coding synonymous_variant LOW 1224T>C Arg408Arg
M0038615 ALCMGEHG_00067 79247 3 Skin 0.01 protein_coding missense_variant MODERATE 1231C>A Leu411Ile
M0038616 ALCMGEHG_00067 79264 3 Skin 0.01 protein_coding synonymous_variant LOW 1248G>C Ala416Ala
M0038617 ALCMGEHG_00067 79268 3 Skin 0.01 protein_coding missense_variant MODERATE 1252A>C Lys418Gln
M0038618 ALCMGEHG_00067 79270 3 Skin 0.01 protein_coding synonymous_variant LOW 1254G>A Lys418Lys
M0038619 ALCMGEHG_00067 79273 3 Skin 0.01 protein_coding synonymous_variant LOW 1257T>C Tyr419Tyr
M0038620 ALCMGEHG_00067 79279 3 Skin 0.01 protein_coding synonymous_variant LOW 1263G>C Arg421Arg
M0038621 ALCMGEHG_00067 79291 4 Skin 0.02 protein_coding synonymous_variant LOW 1275C>A Ala425Ala
M0038622 ALCMGEHG_00067 79312 3 Skin 0.01 protein_coding synonymous_variant LOW 1296T>C Tyr432Tyr
M0038623 ALCMGEHG_00067 79328 4 Skin 0.02 protein_coding missense_variant MODERATE 1312T>G Ser438Ala
M0038624 ALCMGEHG_00067 79387 4 Skin 0.02 protein_coding synonymous_variant LOW 1371A>G Gly457Gly
M0038625 ALCMGEHG_00067 79432 5 Skin 0.02 protein_coding synonymous_variant LOW 1416T>C Ile472Ile
M0038626 ALCMGEHG_00067 79465 5 Skin 0.02 protein_coding synonymous_variant LOW 1449A>C Ala483Ala
M0038627 ALCMGEHG_00067 79528 6 Skin 0.02 protein_coding synonymous_variant LOW 1512A>G Arg504Arg
M0038628 ALCMGEHG_00067 79549 6 Skin 0.02 protein_coding synonymous_variant LOW 1533A>G Val511Val
M0038629 ALCMGEHG_00067 79555 6 Skin 0.02 protein_coding synonymous_variant LOW 1539G>A Glu513Glu
M0038630 ALCMGEHG_00067 79670 7 Skin 0.03 protein_coding missense_variant MODERATE 1654G>A Val552Ile
M0038631 ALCMGEHG_00067 79693 3 Skin 0.01 protein_coding synonymous_variant LOW 1677T>C Ala559Ala
M0038632 ALCMGEHG_00067 79834 3 Skin 0.01 protein_coding synonymous_variant LOW 1818C>G Ala606Ala
M0038633 ALCMGEHG_00067 79835 3 Skin 0.01 protein_coding missense_variant MODERATE 1819G>A Asp607Asn
M0038634 ALCMGEHG_00067 79837 3 Skin 0.01 protein_coding synonymous_variant LOW 1821C>T Asp607Asp
M0038635 ALCMGEHG_00016 14311 3 Skin 0.01 protein_coding synonymous_variant LOW 750C>T Asn250Asn
M0038636 ALCMGEHG_00016 14866 3 Skin 0.01 protein_coding synonymous_variant LOW 195C>G Thr65Thr
M0038637 ALCMGEHG_00016 14872 3 Skin 0.01 protein_coding synonymous_variant LOW 189G>C Leu63Leu
M0038638 ALCMGEHG_00016 14884 3 Skin 0.01 protein_coding synonymous_variant LOW 177C>G Gly59Gly
M0038639 ALCMGEHG_00016 14885 3 Skin 0.01 protein_coding missense_variant MODERATE 176G>A Gly59Asp
M0038640 ALCMGEHG_00018 16158 4 Skin 0.02 protein_coding synonymous_variant LOW 1407T>C Ile469Ile
M0038641 ALCMGEHG_00018 16245 5 Skin 0.02 protein_coding synonymous_variant LOW 1320T>C Arg440Arg
M0038642 ALCMGEHG_00018 16266 6 Skin 0.02 protein_coding synonymous_variant LOW 1299A>G Glu433Glu
M0038643 ALCMGEHG_00018 16344 6 Skin 0.02 protein_coding synonymous_variant LOW 1221A>G Gln407Gln
M0038644 ALCMGEHG_00018 16350 6 Skin 0.02 protein_coding synonymous_variant LOW 1215T>C Val405Val
M0038645 ALCMGEHG_00018 16400 6 Skin 0.02 protein_coding missense_variant MODERATE 1165C>G Pro389Ala
M0038646 ALCMGEHG_00018 16626 4 Skin 0.02 protein_coding synonymous_variant LOW 939A>G Lys313Lys
M0038647 ALCMGEHG_00018 16665 5 Skin 0.02 protein_coding synonymous_variant LOW 900C>G Leu300Leu
M0038648 ALCMGEHG_00018 16668 5 Skin 0.02 protein_coding synonymous_variant LOW 897C>T Tyr299Tyr
M0038649 ALCMGEHG_00018 16719 5 Skin 0.02 protein_coding synonymous_variant LOW 846C>G Pro282Pro
M0038650 ALCMGEHG_00018 16779 4 Skin 0.02 protein_coding synonymous_variant LOW 786C>T Leu262Leu
M0038651 ALCMGEHG_00018 16806 6 Skin 0.02 protein_coding synonymous_variant LOW 759A>G Glu253Glu
M0038652 ALCMGEHG_00018 16818 6 Skin 0.02 protein_coding synonymous_variant LOW 747A>G Glu249Glu
M0038653 ALCMGEHG_00018 17028 4 Skin 0.02 protein_coding synonymous_variant LOW 537C>G Arg179Arg
M0038654 ALCMGEHG_00018 17079 5 Skin 0.02 protein_coding synonymous_variant LOW 486A>G Glu162Glu
M0038655 ALCMGEHG_00018 17103 6 Skin 0.02 protein_coding synonymous_variant LOW 462G>A Ala154Ala
M0038656 ALCMGEHG_00018 17135 5 Skin 0.02 protein_coding synonymous_variant LOW 430T>C Leu144Leu
M0038657 ALCMGEHG_00018 17139 6 Skin 0.02 protein_coding synonymous_variant LOW 426T>C Thr142Thr
M0038658 ALCMGEHG_00018 17148 6 Skin 0.02 protein_coding synonymous_variant LOW 417C>T Asp139Asp
M0038659 ALCMGEHG_00018 17175 6 Skin 0.02 protein_coding synonymous_variant LOW 390C>G Val130Val
M0038660 ALCMGEHG_00018 17202 6 Skin 0.02 protein_coding synonymous_variant LOW 363A>G Glu121Glu
M0038661 ALCMGEHG_00018 17349 3 Skin 0.01 protein_coding synonymous_variant LOW 216T>C Phe72Phe
M0038662 ALCMGEHG_00018 17391 3 Skin 0.01 protein_coding synonymous_variant LOW 174C>T Ser58Ser
M0038663 ALCMGEHG_00018 17418 3 Skin 0.01 protein_coding synonymous_variant LOW 147C>G Arg49Arg
M0038664 ALCMGEHG_00018 17421 3 Skin 0.01 protein_coding synonymous_variant LOW 144C>G Leu48Leu
M0038665 ALCMGEHG_00018 17433 4 Skin 0.02 protein_coding synonymous_variant LOW 132T>C Ile44Ile
M0038666 ALCMGEHG_00018 17460 5 Skin 0.02 protein_coding synonymous_variant LOW 105A>C Pro35Pro
M0038667 ALCMGEHG_00018 17466 4 Skin 0.02 protein_coding synonymous_variant LOW 99C>T Gly33Gly
M0038668 ALCMGEHG_00019 18195 3 Skin 0.01 protein_coding missense_variant MODERATE 71T>C Val24Ala
M0038669 ALCMGEHG_00019 18211 3 Skin 0.01 protein_coding synonymous_variant LOW 87G>A Val29Val
M0038670 ALCMGEHG_00019 18220 3 Skin 0.01 protein_coding synonymous_variant LOW 96A>G Glu32Glu
M0038671 ALCMGEHG_00019 18232 3 Skin 0.01 protein_coding synonymous_variant LOW 108C>T Thr36Thr
M0038672 ALCMGEHG_00019 18253 3 Skin 0.01 protein_coding synonymous_variant LOW 129A>G Ala43Ala
M0038673 ALCMGEHG_00019 18298 3 Skin 0.01 protein_coding synonymous_variant LOW 174C>T Phe58Phe
M0038674 ALCMGEHG_00019 18307 3 Skin 0.01 protein_coding synonymous_variant LOW 183A>G Ala61Ala
M0038675 ALCMGEHG_00019 18322 3 Skin 0.01 protein_coding synonymous_variant LOW 198C>T Pro66Pro
M0038676 ALCMGEHG_00019 18325 3 Skin 0.01 protein_coding synonymous_variant LOW 201T>C Phe67Phe
M0038677 ALCMGEHG_00019 18328 3 Skin 0.01 protein_coding synonymous_variant LOW 204C>T Ala68Ala
M0038678 ALCMGEHG_00019 18334 3 Skin 0.01 protein_coding synonymous_variant LOW 210G>T Leu70Leu
M0038679 ALCMGEHG_00019 18335 3 Skin 0.01 protein_coding synonymous_variant LOW 211C>T Leu71Leu
M0038680 ALCMGEHG_00019 18338 3 Skin 0.01 protein_coding missense_variant MODERATE 214C>T Leu72Phe
M0038681 ALCMGEHG_00019 18365 3 Skin 0.01 protein_coding missense_variant MODERATE 241C>G Gln81Glu
M0038682 ALCMGEHG_00019 18442 3 Skin 0.01 protein_coding synonymous_variant LOW 318T>C Ile106Ile
M0038683 ALCMGEHG_00019 18490 3 Skin 0.01 protein_coding synonymous_variant LOW 366C>T Pro122Pro
M0038684 ALCMGEHG_00019 18491 3 Skin 0.01 protein_coding missense_variant MODERATE 367A>G Thr123Ala
M0038685 ALCMGEHG_00019 18494 3 Skin 0.01 protein_coding synonymous_variant LOW 370C>T Leu124Leu
M0038686 ALCMGEHG_00019 18538 3 Skin 0.01 protein_coding synonymous_variant LOW 414G>C Leu138Leu
M0038687 ALCMGEHG_00019 18560 3 Skin 0.01 protein_coding missense_variant MODERATE 436G>C Glu146Gln
M0038688 ALCMGEHG_00019 18563 3 Skin 0.01 protein_coding missense_variant MODERATE 439T>G Ser147Ala
M0038689 ALCMGEHG_00019 18582 3 Skin 0.01 protein_coding missense_variant MODERATE 458T>G Val153Gly
M0038690 ALCMGEHG_00019 18607 3 Skin 0.01 protein_coding synonymous_variant LOW 483A>G Pro161Pro
M0038691 ALCMGEHG_00019 18628 3 Skin 0.01 protein_coding synonymous_variant LOW 504G>A Glu168Glu
M0038692 ALCMGEHG_00019 18635 3 Skin 0.01 protein_coding missense_variant MODERATE 511G>C Ala171Pro
M0038693 ALCMGEHG_00019 18647 3 Skin 0.01 protein_coding missense_variant MODERATE 523A>G Thr175Ala
M0038694 ALCMGEHG_00019 18648 3 Skin 0.01 protein_coding missense_variant MODERATE 524C>T Thr175Met
M0038695 ALCMGEHG_00019 18688 3 Skin 0.01 protein_coding synonymous_variant LOW 564A>G Gly188Gly
M0038696 ALCMGEHG_00019 18695 3 Skin 0.01 protein_coding missense_variant MODERATE 571G>A Asp191Asn
M0038697 ALCMGEHG_00019 18697 3 Skin 0.01 protein_coding missense_variant MODERATE 573C>A Asp191Glu
M0038698 ALCMGEHG_00019 18754 3 Skin 0.01 protein_coding synonymous_variant LOW 630A>G Thr210Thr
M0038699 ALCMGEHG_00019 18755 3 Skin 0.01 protein_coding synonymous_variant LOW 631T>C Leu211Leu
M0038700 ALCMGEHG_00019 18760 3 Skin 0.01 protein_coding synonymous_variant LOW 636C>G Gly212Gly
M0038701 ALCMGEHG_00019 18790 3 Skin 0.01 protein_coding synonymous_variant LOW 666G>A Glu222Glu
M0038702 ALCMGEHG_00019 18793 3 Skin 0.01 protein_coding synonymous_variant LOW 669G>A Glu223Glu
M0038703 ALCMGEHG_00019 18802 3 Skin 0.01 protein_coding synonymous_variant LOW 678C>T Asn226Asn
M0038704 ALCMGEHG_00019 18813 3 Skin 0.01 protein_coding missense_variant MODERATE 689C>T Pro230Leu
M0038705 ALCMGEHG_00019 18934 3 Skin 0.01 protein_coding synonymous_variant LOW 810C>G Ala270Ala
M0038706 ALCMGEHG_00019 18955 3 Skin 0.01 protein_coding synonymous_variant LOW 831G>A Gly277Gly
M0038707 ALCMGEHG_00019 18958 3 Skin 0.01 protein_coding synonymous_variant LOW 834A>G Ala278Ala
M0038708 ALCMGEHG_00019 18973 3 Skin 0.01 protein_coding synonymous_variant LOW 849G>C Pro283Pro
M0038709 ALCMGEHG_00019 18995 3 Skin 0.01 protein_coding missense_variant MODERATE 871G>A Ala291Thr
M0038710 ALCMGEHG_00016 19083 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4023T>C None
M0038711 ALCMGEHG_00020 19095 3 Skin 0.01 protein_coding start_lost HIGH 3G>C Met1?
M0038712 ALCMGEHG_00020 19161 3 Skin 0.01 protein_coding synonymous_variant LOW 69A>G Lys23Lys
M0038713 ALCMGEHG_00020 19227 3 Skin 0.01 protein_coding synonymous_variant LOW 135G>A Lys45Lys
M0038714 ALCMGEHG_00020 19233 3 Skin 0.01 protein_coding synonymous_variant LOW 141G>C Ser47Ser
M0038715 ALCMGEHG_00020 19263 3 Skin 0.01 protein_coding synonymous_variant LOW 171C>G Ala57Ala
M0038716 ALCMGEHG_00020 19281 3 Skin 0.01 protein_coding synonymous_variant LOW 189A>G Glu63Glu
M0038717 ALCMGEHG_00020 19296 3 Skin 0.01 protein_coding synonymous_variant LOW 204T>C Tyr68Tyr
M0038718 ALCMGEHG_00020 19347 3 Skin 0.01 protein_coding synonymous_variant LOW 255A>G Glu85Glu
M0038719 ALCMGEHG_00020 19437 3 Skin 0.01 protein_coding synonymous_variant LOW 345G>C Leu115Leu
M0038720 ALCMGEHG_00020 19440 3 Skin 0.01 protein_coding synonymous_variant LOW 348T>G Leu116Leu
M0038721 ALCMGEHG_00020 19443 3 Skin 0.01 protein_coding synonymous_variant LOW 351C>G Arg117Arg
M0038722 ALCMGEHG_00020 19718 3 Skin 0.01 protein_coding missense_variant MODERATE 626A>G Gln209Arg
M0038723 ALCMGEHG_00020 19722 3 Skin 0.01 protein_coding missense_variant MODERATE 630A>C Glu210Asp
M0038724 ALCMGEHG_00020 19851 3 Skin 0.01 protein_coding synonymous_variant LOW 759T>C Ser253Ser
M0038725 ALCMGEHG_00020 19857 3 Skin 0.01 protein_coding synonymous_variant LOW 765T>C Arg255Arg
M0038726 ALCMGEHG_00020 19860 3 Skin 0.01 protein_coding synonymous_variant LOW 768T>C Arg256Arg
M0038727 ALCMGEHG_00020 19875 3 Skin 0.01 protein_coding synonymous_variant LOW 783T>C Thr261Thr
M0038728 ALCMGEHG_00020 19959 3 Skin 0.01 protein_coding synonymous_variant LOW 867A>G Lys289Lys
M0038729 ALCMGEHG_00020 19968 3 Skin 0.01 protein_coding synonymous_variant LOW 876G>T Arg292Arg
M0038730 ALCMGEHG_00020 19974 3 Skin 0.01 protein_coding synonymous_variant LOW 882A>G Glu294Glu
M0038731 ALCMGEHG_00020 19992 3 Skin 0.01 protein_coding synonymous_variant LOW 900C>T Phe300Phe
M0038732 ALCMGEHG_00020 19998 3 Skin 0.01 protein_coding synonymous_variant LOW 906A>G Gly302Gly
M0038733 ALCMGEHG_00020 20033 3 Skin 0.01 protein_coding missense_variant MODERATE 941G>A Gly314Asp
M0038734 ALCMGEHG_00020 20034 3 Skin 0.01 protein_coding synonymous_variant LOW 942C>G Gly314Gly
M0038735 ALCMGEHG_00020 20038 3 Skin 0.01 protein_coding missense_variant MODERATE 946G>C Val316Leu
M0038736 ALCMGEHG_00020 20044 3 Skin 0.01 protein_coding missense_variant MODERATE 952G>C Glu318Gln
M0038737 ALCMGEHG_00020 20047 3 Skin 0.01 protein_coding missense_variant MODERATE 955C>G Leu319Val
M0038738 ALCMGEHG_00020 20067 3 Skin 0.01 protein_coding synonymous_variant LOW 975A>G Glu325Glu
M0038739 ALCMGEHG_00020 20097 3 Skin 0.01 protein_coding synonymous_variant LOW 1005T>G Val335Val
M0038740 ALCMGEHG_00020 20101 3 Skin 0.01 protein_coding missense_variant MODERATE 1009C>G Gln337Glu
M0038741 ALCMGEHG_00020 20103 3 Skin 0.01 protein_coding synonymous_variant LOW 1011G>A Gln337Gln
M0038742 ALCMGEHG_00020 20119 3 Skin 0.01 protein_coding missense_variant MODERATE 1027G>A Val343Ile
M0038743 ALCMGEHG_00020 20151 3 Skin 0.01 protein_coding synonymous_variant LOW 1059G>C Thr353Thr
M0038744 ALCMGEHG_00020 20181 3 Skin 0.01 protein_coding synonymous_variant LOW 1089A>C Gly363Gly
M0038745 ALCMGEHG_00020 20217 3 Skin 0.01 protein_coding synonymous_variant LOW 1125G>C Thr375Thr
M0038746 ALCMGEHG_00020 20280 3 Skin 0.01 protein_coding synonymous_variant LOW 1188G>C Gly396Gly
M0038747 ALCMGEHG_00020 20286 3 Skin 0.01 protein_coding synonymous_variant LOW 1194G>C Val398Val
M0038748 ALCMGEHG_00020 20361 3 Skin 0.01 protein_coding synonymous_variant LOW 1269G>C Leu423Leu
M0038749 ALCMGEHG_00020 20367 3 Skin 0.01 protein_coding synonymous_variant LOW 1275G>A Ala425Ala
M0038750 ALCMGEHG_00020 20403 3 Skin 0.01 protein_coding synonymous_variant LOW 1311G>C Leu437Leu
M0038751 ALCMGEHG_00087 99380 4 Skin 0.02 protein_coding synonymous_variant LOW 549T>C Phe183Phe
M0038752 ALCMGEHG_00087 99809 3 Skin 0.01 protein_coding synonymous_variant LOW 120C>G Arg40Arg
M0038753 ALCMGEHG_00087 99812 3 Skin 0.01 protein_coding synonymous_variant LOW 117A>G Leu39Leu
M0038754 ALCMGEHG_00087 99845 4 Skin 0.02 protein_coding synonymous_variant LOW 84G>C Arg28Arg
M0038755 ALCMGEHG_00086 101104 11 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -2111A>G None
M0038756 ALCMGEHG_00086 101133 6 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -2140C>T None
M0038757 ALCMGEHG_00086 101143 6 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -2150C>T None
M0038758 ALCMGEHG_00065 76278 4 Skin 0.02 protein_coding synonymous_variant LOW 603T>C Arg201Arg
M0038759 ALCMGEHG_00067 78091 3 Skin 0.01 protein_coding synonymous_variant LOW 75G>T Val25Val
M0038760 ALCMGEHG_00067 78094 3 Skin 0.01 protein_coding synonymous_variant LOW 78G>A Leu26Leu
M0038761 ALCMGEHG_00067 78097 3 Skin 0.01 protein_coding synonymous_variant LOW 81C>G Pro27Pro
M0038762 ALCMGEHG_00036 37969 4 Skin 0.02 protein_coding synonymous_variant LOW 636C>T Phe212Phe
M0038763 ALCMGEHG_00036 38014 5 Skin 0.02 protein_coding synonymous_variant LOW 591T>C Ser197Ser
M0038764 ALCMGEHG_00036 38020 6 Skin 0.02 protein_coding synonymous_variant LOW 585T>C His195His
M0038765 ALCMGEHG_00036 38032 4 Skin 0.02 protein_coding synonymous_variant LOW 573C>G Ala191Ala
M0038766 ALCMGEHG_00036 38038 4 Skin 0.02 protein_coding synonymous_variant LOW 567C>G Gly189Gly
M0038767 ALCMGEHG_00036 38044 4 Skin 0.02 protein_coding synonymous_variant LOW 561C>T Gly187Gly
M0038768 ALCMGEHG_00036 38050 5 Skin 0.02 protein_coding synonymous_variant LOW 555G>A Arg185Arg
M0038769 ALCMGEHG_00036 38053 5 Skin 0.02 protein_coding synonymous_variant LOW 552G>C Gly184Gly
M0038770 ALCMGEHG_00036 38056 5 Skin 0.02 protein_coding synonymous_variant LOW 549T>G Ala183Ala
M0038771 ALCMGEHG_00036 38065 8 Skin 0.03 protein_coding synonymous_variant LOW 540T>C Ala180Ala
M0038772 ALCMGEHG_00036 38109 4 Skin 0.02 protein_coding missense_variant MODERATE 496G>C Ala166Pro
M0038773 ALCMGEHG_00036 38110 4 Skin 0.02 protein_coding synonymous_variant LOW 495G>C Val165Val
M0038774 ALCMGEHG_00076 87790 4 Skin 0.02 protein_coding synonymous_variant LOW 987A>G Val329Val
M0038775 ALCMGEHG_00076 87793 4 Skin 0.02 protein_coding synonymous_variant LOW 990T>C Arg330Arg
M0038776 ALCMGEHG_00076 87829 3 Skin 0.01 protein_coding synonymous_variant LOW 1026A>G Thr342Thr
M0038777 ALCMGEHG_00078 88596 12 Skin 0.05 protein_coding synonymous_variant LOW 138A>G Val46Val
M0038778 ALCMGEHG_00078 88728 8 Skin 0.03 protein_coding synonymous_variant LOW 270T>C Thr90Thr
M0038779 ALCMGEHG_00078 88749 8 Skin 0.03 protein_coding synonymous_variant LOW 291G>A Thr97Thr
M0038780 ALCMGEHG_00078 88759 8 Skin 0.03 protein_coding missense_variant MODERATE 301G>A Gly101Ser
M0038781 ALCMGEHG_00078 89175 11 Skin 0.04 protein_coding synonymous_variant LOW 717A>G Glu239Glu
M0038782 ALCMGEHG_00078 89193 11 Skin 0.04 protein_coding synonymous_variant LOW 735C>G Ala245Ala
M0038783 ALCMGEHG_00078 89196 11 Skin 0.04 protein_coding synonymous_variant LOW 738C>T Tyr246Tyr
M0038784 ALCMGEHG_00078 89277 4 Skin 0.02 protein_coding synonymous_variant LOW 819G>T Leu273Leu
M0038785 ALCMGEHG_00078 89319 9 Skin 0.04 protein_coding synonymous_variant LOW 861G>C Thr287Thr
M0038786 ALCMGEHG_00078 89664 3 Skin 0.01 protein_coding synonymous_variant LOW 1206T>C His402His
M0038787 ALCMGEHG_00078 89665 3 Skin 0.01 protein_coding synonymous_variant LOW 1207A>C Arg403Arg
M0038788 ALCMGEHG_00078 89671 3 Skin 0.01 protein_coding missense_variant MODERATE 1213A>G Thr405Ala
M0038789 ALCMGEHG_00003 2828 17 Skin 0.07 protein_coding synonymous_variant LOW 387A>C Gly129Gly
M0038790 ALCMGEHG_00003 2897 9 Skin 0.04 protein_coding synonymous_variant LOW 318T>C Thr106Thr
M0038791 ALCMGEHG_00003 2915 9 Skin 0.04 protein_coding synonymous_variant LOW 300T>A Pro100Pro
M0038792 ALCMGEHG_00003 2918 9 Skin 0.04 protein_coding synonymous_variant LOW 297G>A Leu99Leu
M0038793 ALCMGEHG_00003 2933 9 Skin 0.04 protein_coding synonymous_variant LOW 282C>T Ala94Ala
M0038794 ALCMGEHG_00003 2939 9 Skin 0.04 protein_coding synonymous_variant LOW 276G>C Ala92Ala
M0038795 ALCMGEHG_00003 2951 7 Skin 0.03 protein_coding synonymous_variant LOW 264C>T Asp88Asp
M0038796 ALCMGEHG_00003 2957 5 Skin 0.02 protein_coding synonymous_variant LOW 258C>T Leu86Leu
M0038797 ALCMGEHG_00003 2959 5 Skin 0.02 protein_coding missense_variant MODERATE 256C>A Leu86Ile
M0038798 ALCMGEHG_00003 2960 5 Skin 0.02 protein_coding synonymous_variant LOW 255C>G Thr85Thr
M0038799 ALCMGEHG_00003 2963 5 Skin 0.02 protein_coding synonymous_variant LOW 252G>C Ala84Ala
M0038800 ALCMGEHG_00003 2966 5 Skin 0.02 protein_coding synonymous_variant LOW 249C>T Tyr83Tyr
M0038801 ALCMGEHG_00003 2969 5 Skin 0.02 protein_coding synonymous_variant LOW 246G>C Val82Val
M0038802 ALCMGEHG_00003 3154 8 Skin 0.03 protein_coding missense_variant MODERATE 61A>G Lys21Glu
M0038803 ALCMGEHG_00004 3267 8 Skin 0.03 protein_coding synonymous_variant LOW 297A>G Val99Val
M0038804 ALCMGEHG_00004 3321 8 Skin 0.03 protein_coding synonymous_variant LOW 243T>C Tyr81Tyr
M0038805 ALCMGEHG_00004 3336 8 Skin 0.03 protein_coding synonymous_variant LOW 228G>A Gly76Gly
M0038806 ALCMGEHG_00004 3363 14 Skin 0.05 protein_coding synonymous_variant LOW 201A>C Arg67Arg
M0038807 ALCMGEHG_00004 3396 17 Skin 0.07 protein_coding synonymous_variant LOW 168T>C Cys56Cys
M0038808 ALCMGEHG_00004 3399 17 Skin 0.07 protein_coding synonymous_variant LOW 165C>T Asp55Asp
M0038809 ALCMGEHG_00004 3402 17 Skin 0.07 protein_coding synonymous_variant LOW 162C>G Arg54Arg
M0038810 ALCMGEHG_00004 3426 17 Skin 0.07 protein_coding synonymous_variant LOW 138A>C Ile46Ile
M0038811 ALCMGEHG_00004 3495 4 Skin 0.02 protein_coding synonymous_variant LOW 69A>G Pro23Pro
M0038812 ALCMGEHG_00004 3497 9 Skin 0.04 protein_coding missense_variant MODERATE 67C>G Pro23Ala
M0038813 ALCMGEHG_00004 3498 4 Skin 0.02 protein_coding synonymous_variant LOW 66C>T Pro22Pro
M0038814 ALCMGEHG_00004 3501 5 Skin 0.02 protein_coding synonymous_variant LOW 63C>G Ser21Ser
M0038815 ALCMGEHG_00004 3503 5 Skin 0.02 protein_coding missense_variant MODERATE 61T>A Ser21Thr
M0038816 ALCMGEHG_00004 3504 5 Skin 0.02 protein_coding synonymous_variant LOW 60C>A Thr20Thr
M0038817 ALCMGEHG_00004 3527 3 Skin 0.01 protein_coding missense_variant MODERATE 37G>T Ala13Ser
M0038818 ALCMGEHG_00004 3555 3 Skin 0.01 protein_coding synonymous_variant LOW 9G>A Ala3Ala
M0038819 ALCMGEHG_00003 3568 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -354C>T None
M0038820 ALCMGEHG_00003 4076 21 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -862G>A None
M0038821 ALCMGEHG_00003 4122 15 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -908T>G None
M0038822 ALCMGEHG_00003 4123 15 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -909C>G None
M0038823 ALCMGEHG_00003 4124 15 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -910C>A None
M0038824 ALCMGEHG_00006 4440 14 Skin 0.05 protein_coding synonymous_variant LOW 315C>T Leu105Leu
M0038825 ALCMGEHG_00006 4449 15 Skin 0.06 protein_coding synonymous_variant LOW 324A>G Glu108Glu
M0038826 ALCMGEHG_00006 4585 20 Skin 0.08 protein_coding missense_variant MODERATE 460T>C Ser154Pro
M0038827 ALCMGEHG_00006 4746 21 Skin 0.08 protein_coding synonymous_variant LOW 621A>G Ala207Ala
M0038828 ALCMGEHG_00007 5049 20 Skin 0.08 protein_coding synonymous_variant LOW 120A>G Val40Val
M0038829 ALCMGEHG_00007 5050 20 Skin 0.08 protein_coding synonymous_variant LOW 121T>C Leu41Leu
M0038830 ALCMGEHG_00007 5217 8 Skin 0.03 protein_coding synonymous_variant LOW 288C>T Ser96Ser
M0038831 ALCMGEHG_00003 5620 17 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -2406A>C None
M0038832 ALCMGEHG_00008 5886 17 Skin 0.07 protein_coding synonymous_variant LOW 246T>C Tyr82Tyr
M0038833 ALCMGEHG_00008 5916 17 Skin 0.07 protein_coding synonymous_variant LOW 276C>T Asn92Asn
M0038834 ALCMGEHG_00008 6045 17 Skin 0.07 protein_coding synonymous_variant LOW 405A>G Pro135Pro
M0038835 ALCMGEHG_00008 6108 17 Skin 0.07 protein_coding synonymous_variant LOW 468G>C Val156Val
M0038836 ALCMGEHG_00008 6191 17 Skin 0.07 protein_coding missense_variant MODERATE 551G>A Arg184Lys
M0038837 ALCMGEHG_00008 6198 17 Skin 0.07 protein_coding synonymous_variant LOW 558C>T Ser186Ser
M0038838 ALCMGEHG_00008 6291 17 Skin 0.07 protein_coding synonymous_variant LOW 651C>G Pro217Pro
M0038839 ALCMGEHG_00008 6588 6 Skin 0.02 protein_coding synonymous_variant LOW 948C>T Asn316Asn
M0038840 ALCMGEHG_00008 6591 6 Skin 0.02 protein_coding synonymous_variant LOW 951T>G Leu317Leu
M0038841 ALCMGEHG_00008 6621 17 Skin 0.07 protein_coding synonymous_variant LOW 981C>T Ser327Ser
M0038842 ALCMGEHG_00008 6678 5 Skin 0.02 protein_coding synonymous_variant LOW 1038C>G Val346Val
M0038843 ALCMGEHG_00008 6741 13 Skin 0.05 protein_coding synonymous_variant LOW 1101C>T Gly367Gly
M0038844 ALCMGEHG_00008 6744 13 Skin 0.05 protein_coding synonymous_variant LOW 1104C>G Gly368Gly
M0038845 ALCMGEHG_00008 6753 13 Skin 0.05 protein_coding synonymous_variant LOW 1113G>C Arg371Arg
M0038846 ALCMGEHG_00008 6774 17 Skin 0.07 protein_coding synonymous_variant LOW 1134G>A Pro378Pro
M0038847 ALCMGEHG_00008 6933 4 Skin 0.02 protein_coding synonymous_variant LOW 1293C>T Tyr431Tyr
M0038848 ALCMGEHG_00008 6934 4 Skin 0.02 protein_coding missense_variant MODERATE 1294A>G Ser432Gly
M0038849 ALCMGEHG_00008 6939 7 Skin 0.03 protein_coding synonymous_variant LOW 1299T>C Phe433Phe
M0038850 ALCMGEHG_00054 58149 8 Skin 0.03 protein_coding missense_variant MODERATE 23C>T Ala8Val
M0038851 ALCMGEHG_00050 58454 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4843G>A None
M0038852 ALCMGEHG_00056 60073 3 Skin 0.01 protein_coding missense_variant MODERATE 671A>G Gln224Arg
M0038853 ALCMGEHG_00056 60074 3 Skin 0.01 protein_coding missense_variant MODERATE 672G>C Gln224His
M0038854 ALCMGEHG_00056 60077 3 Skin 0.01 protein_coding synonymous_variant LOW 675G>A Val225Val
M0038855 ALCMGEHG_00009 7626 18 Skin 0.07 protein_coding synonymous_variant LOW 981G>C Gly327Gly
M0038856 ALCMGEHG_00009 7647 21 Skin 0.08 protein_coding synonymous_variant LOW 960G>C Pro320Pro
M0038857 ALCMGEHG_00009 7650 21 Skin 0.08 protein_coding synonymous_variant LOW 957A>G Arg319Arg
M0038858 ALCMGEHG_00009 7680 14 Skin 0.05 protein_coding synonymous_variant LOW 927G>C Arg309Arg
M0038859 ALCMGEHG_00009 7755 21 Skin 0.08 protein_coding synonymous_variant LOW 852A>G Val284Val
M0038860 ALCMGEHG_00009 7785 11 Skin 0.04 protein_coding synonymous_variant LOW 822A>G Pro274Pro
M0038861 ALCMGEHG_00009 7788 11 Skin 0.04 protein_coding synonymous_variant LOW 819C>T Ser273Ser
M0038862 ALCMGEHG_00009 8181 12 Skin 0.05 protein_coding synonymous_variant LOW 426G>A Val142Val
M0038863 ALCMGEHG_00009 8184 12 Skin 0.05 protein_coding synonymous_variant LOW 423G>C Gly141Gly
M0038864 ALCMGEHG_00009 8188 12 Skin 0.05 protein_coding missense_variant MODERATE 419A>C Gln140Pro
M0038865 ALCMGEHG_00009 8189 12 Skin 0.05 protein_coding stop_gained HIGH 418C>T Gln140*
M0038866 ALCMGEHG_00009 8199 12 Skin 0.05 protein_coding synonymous_variant LOW 408C>T Arg136Arg
M0038867 ALCMGEHG_00009 8205 9 Skin 0.04 protein_coding synonymous_variant LOW 402A>G Gly134Gly
M0038868 ALCMGEHG_00009 8238 8 Skin 0.03 protein_coding synonymous_variant LOW 369C>T Gly123Gly
M0038869 ALCMGEHG_00009 8250 11 Skin 0.04 protein_coding synonymous_variant LOW 357T>A Ile119Ile
M0038870 ALCMGEHG_00009 8352 11 Skin 0.04 protein_coding synonymous_variant LOW 255T>C Ile85Ile
M0038871 ALCMGEHG_00009 8354 11 Skin 0.04 protein_coding missense_variant MODERATE 253A>G Ile85Val
M0038872 ALCMGEHG_00009 8358 11 Skin 0.04 protein_coding synonymous_variant LOW 249C>G Ala83Ala
M0038873 ALCMGEHG_00009 8372 11 Skin 0.04 protein_coding missense_variant MODERATE 235A>G Arg79Gly
M0038874 ALCMGEHG_00009 8374 11 Skin 0.04 protein_coding missense_variant MODERATE 233C>G Ala78Gly
M0038875 ALCMGEHG_00009 8376 11 Skin 0.04 protein_coding synonymous_variant LOW 231A>G Ser77Ser
M0038876 ALCMGEHG_00009 8397 11 Skin 0.04 protein_coding synonymous_variant LOW 210C>G Arg70Arg
M0038877 ALCMGEHG_00009 8403 11 Skin 0.04 protein_coding synonymous_variant LOW 204A>G Arg68Arg
M0038878 ALCMGEHG_00009 8417 13 Skin 0.05 protein_coding synonymous_variant LOW 190C>T Leu64Leu
M0038879 ALCMGEHG_00009 8421 13 Skin 0.05 protein_coding synonymous_variant LOW 186T>C Phe62Phe
M0038880 ALCMGEHG_00009 8472 9 Skin 0.04 protein_coding synonymous_variant LOW 135C>T Pro45Pro
M0038881 ALCMGEHG_00009 8571 17 Skin 0.07 protein_coding synonymous_variant LOW 36G>C Gly12Gly
M0038882 ALCMGEHG_00012 10718 5 Skin 0.02 protein_coding synonymous_variant LOW 60T>A Ala20Ala
M0038883 ALCMGEHG_00012 10720 5 Skin 0.02 protein_coding missense_variant MODERATE 58G>T Ala20Ser
M0038884 ALCMGEHG_00012 10724 6 Skin 0.02 protein_coding synonymous_variant LOW 54C>G Ala18Ala
M0038885 ALCMGEHG_00012 10733 5 Skin 0.02 protein_coding synonymous_variant LOW 45G>A Ala15Ala
M0038886 ALCMGEHG_00012 10734 5 Skin 0.02 protein_coding missense_variant MODERATE 44C>T Ala15Val
M0038887 ALCMGEHG_00012 10745 5 Skin 0.02 protein_coding synonymous_variant LOW 33A>G Arg11Arg
M0038888 ALCMGEHG_00065 75525 4 Skin 0.02 protein_coding synonymous_variant LOW 1356A>C Ile452Ile
M0038889 ALCMGEHG_00065 75531 4 Skin 0.02 protein_coding synonymous_variant LOW 1350T>C Ala450Ala
M0038890 ALCMGEHG_00035 36639 8 Skin 0.03 protein_coding missense_variant MODERATE 70G>A Ala24Thr
M0038891 ALCMGEHG_00050 53482 10 Skin 0.04 protein_coding missense_variant MODERATE 130A>G Ser44Gly
M0038892 ALCMGEHG_00050 53512 10 Skin 0.04 protein_coding missense_variant MODERATE 100G>T Ala34Ser
M0038893 ALCMGEHG_00050 53531 10 Skin 0.04 protein_coding synonymous_variant LOW 81G>C Thr27Thr
M0038894 ALCMGEHG_00050 53558 10 Skin 0.04 protein_coding synonymous_variant LOW 54G>A Gly18Gly
M0038895 ALCMGEHG_00050 53561 10 Skin 0.04 protein_coding synonymous_variant LOW 51T>C Gly17Gly
M0038896 ALCMGEHG_00050 53564 10 Skin 0.04 protein_coding synonymous_variant LOW 48C>T Val16Val
M0038897 ALCMGEHG_00050 53566 10 Skin 0.04 protein_coding missense_variant MODERATE 46G>A Val16Ile
M0038898 ALCMGEHG_00050 53579 10 Skin 0.04 protein_coding synonymous_variant LOW 33C>G Gly11Gly
M0038899 ALCMGEHG_00050 53581 10 Skin 0.04 protein_coding missense_variant MODERATE 31G>A Gly11Ser
M0038900 ALCMGEHG_00050 53588 10 Skin 0.04 protein_coding synonymous_variant LOW 24C>T Asn8Asn
M0038901 ALCMGEHG_00052 55637 5 Skin 0.02 protein_coding synonymous_variant LOW 555G>C Ser185Ser
M0038902 ALCMGEHG_00052 55638 5 Skin 0.02 protein_coding missense_variant MODERATE 554C>G Ser185Trp
M0038903 ALCMGEHG_00052 55639 5 Skin 0.02 protein_coding missense_variant MODERATE 553T>A Ser185Thr
M0038904 ALCMGEHG_00052 55640 5 Skin 0.02 protein_coding synonymous_variant LOW 552T>C Ile184Ile
M0038905 ALCMGEHG_00050 56196 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -2585A>G None
M0038906 ALCMGEHG_00053 56695 4 Skin 0.02 protein_coding synonymous_variant LOW 1140C>G Arg380Arg
M0038907 ALCMGEHG_00055 58517 4 Skin 0.02 protein_coding synonymous_variant LOW 18T>C Phe6Phe
M0038908 ALCMGEHG_00033 34610 6 Skin 0.02 protein_coding synonymous_variant LOW 975A>G Glu325Glu
M0038909 ALCMGEHG_00033 34616 6 Skin 0.02 protein_coding synonymous_variant LOW 969T>C Ile323Ile
M0038910 ALCMGEHG_00033 34619 6 Skin 0.02 protein_coding synonymous_variant LOW 966C>A Arg322Arg
M0038911 ALCMGEHG_00033 34620 6 Skin 0.02 protein_coding missense_variant MODERATE 965G>A Arg322His
M0038912 ALCMGEHG_00033 34621 6 Skin 0.02 protein_coding missense_variant MODERATE 964C>A Arg322Ser
M0038913 ALCMGEHG_00033 35144 5 Skin 0.02 protein_coding synonymous_variant LOW 441T>C Phe147Phe
M0038914 ALCMGEHG_00033 35146 5 Skin 0.02 protein_coding missense_variant MODERATE 439T>C Phe147Leu
M0038915 ALCMGEHG_00033 35207 3 Skin 0.01 protein_coding synonymous_variant LOW 378C>G Arg126Arg
M0038916 ALCMGEHG_00033 35210 3 Skin 0.01 protein_coding synonymous_variant LOW 375A>G Ala125Ala
M0038917 ALCMGEHG_00005 3785 5 Skin 0.02 protein_coding synonymous_variant LOW 204G>A Ala68Ala
M0038918 ALCMGEHG_00005 3788 5 Skin 0.02 protein_coding synonymous_variant LOW 207G>C Pro69Pro
M0038919 ALCMGEHG_00005 3920 5 Skin 0.02 protein_coding synonymous_variant LOW 339C>G Gly113Gly
M0038920 ALCMGEHG_00005 3950 5 Skin 0.02 protein_coding synonymous_variant LOW 369C>T Gly123Gly
M0038921 ALCMGEHG_00006 4455 5 Skin 0.02 protein_coding synonymous_variant LOW 330C>T Ile110Ile
M0038922 ALCMGEHG_00006 4495 15 Skin 0.06 protein_coding missense_variant MODERATE 370G>C Ala124Pro
M0038923 ALCMGEHG_00006 4506 15 Skin 0.06 protein_coding synonymous_variant LOW 381A>C Gly127Gly
M0038924 ALCMGEHG_00008 6858 7 Skin 0.03 protein_coding synonymous_variant LOW 1218T>C Ala406Ala
M0038925 ALCMGEHG_00042 44783 6 Skin 0.02 protein_coding synonymous_variant LOW 201C>A Pro67Pro
M0038926 ALCMGEHG_00042 44872 4 Skin 0.02 protein_coding missense_variant MODERATE 112A>G Thr38Ala
M0038927 ALCMGEHG_00042 44873 4 Skin 0.02 protein_coding missense_variant MODERATE 111T>G Asp37Glu
M0038928 ALCMGEHG_00042 44882 4 Skin 0.02 protein_coding synonymous_variant LOW 102C>T Arg34Arg
M0038929 ALCMGEHG_00043 45098 5 Skin 0.02 protein_coding synonymous_variant LOW 396A>G Glu132Glu
M0038930 ALCMGEHG_00043 45103 5 Skin 0.02 protein_coding synonymous_variant LOW 391C>T Leu131Leu
M0038931 ALCMGEHG_00088 100949 7 Skin 0.03 protein_coding synonymous_variant LOW 894C>G Ala298Ala
M0038932 ALCMGEHG_00088 100952 7 Skin 0.03 protein_coding synonymous_variant LOW 897C>T Leu299Leu
M0038933 ALCMGEHG_00088 101000 4 Skin 0.02 protein_coding synonymous_variant LOW 945C>G Thr315Thr
M0038934 ALCMGEHG_00088 101019 4 Skin 0.02 protein_coding synonymous_variant LOW 964C>T Leu322Leu
M0038935 ALCMGEHG_00088 101052 6 Skin 0.02 protein_coding missense_variant MODERATE 997G>A Gly333Ser
M0038936 ALCMGEHG_00088 101055 6 Skin 0.02 protein_coding missense_variant MODERATE 1000G>A Ala334Thr
M0038937 ALCMGEHG_00088 101057 6 Skin 0.02 protein_coding synonymous_variant LOW 1002G>T Ala334Ala
M0038938 ALCMGEHG_00088 101059 6 Skin 0.02 protein_coding missense_variant MODERATE 1004G>A Gly335Asp
M0038939 ALCMGEHG_00088 101060 6 Skin 0.02 protein_coding synonymous_variant LOW 1005C>T Gly335Gly
M0038940 ALCMGEHG_00086 101094 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -2101C>T None
M0038941 ALCMGEHG_00086 101097 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -2104T>A None
M0038942 ALCMGEHG_00086 101106 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -2113C>T None
M0038943 ALCMGEHG_00086 101165 11 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -2172C>A None
M0038944 ALCMGEHG_00086 101168 11 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -2175C>T None
M0038945 ALCMGEHG_00055 58889 4 Skin 0.02 protein_coding synonymous_variant LOW 390C>T Thr130Thr
M0038946 ALCMGEHG_00055 58958 3 Skin 0.01 protein_coding synonymous_variant LOW 459T>C Ile153Ile
M0038947 ALCMGEHG_00056 60326 3 Skin 0.01 protein_coding synonymous_variant LOW 924T>G Val308Val
M0038948 ALCMGEHG_00056 60368 3 Skin 0.01 protein_coding synonymous_variant LOW 966C>T Ala322Ala
M0038949 ALCMGEHG_00056 60641 3 Skin 0.01 protein_coding synonymous_variant LOW 1239C>T Ala413Ala
M0038950 ALCMGEHG_00014 11980 3 Skin 0.01 protein_coding synonymous_variant LOW 345C>T Ala115Ala
M0038951 ALCMGEHG_00014 11989 5 Skin 0.02 protein_coding synonymous_variant LOW 336T>C Ser112Ser
M0038952 ALCMGEHG_00014 11999 5 Skin 0.02 protein_coding missense_variant MODERATE 326C>A Thr109Lys
M0038953 ALCMGEHG_00014 12001 3 Skin 0.01 protein_coding missense_variant MODERATE 324C>A Asp108Glu
M0038954 ALCMGEHG_00014 12002 3 Skin 0.01 protein_coding missense_variant MODERATE 323A>G Asp108Gly
M0038955 ALCMGEHG_00014 12010 5 Skin 0.02 protein_coding synonymous_variant LOW 315G>T Pro105Pro
M0038956 ALCMGEHG_00014 12015 5 Skin 0.02 protein_coding synonymous_variant LOW 310T>C Leu104Leu
M0038957 ALCMGEHG_00014 12016 3 Skin 0.01 protein_coding synonymous_variant LOW 309T>C Phe103Phe
M0038958 ALCMGEHG_00014 12037 3 Skin 0.01 protein_coding synonymous_variant LOW 288G>A Leu96Leu
M0038959 ALCMGEHG_00014 12042 3 Skin 0.01 protein_coding synonymous_variant LOW 283T>C Leu95Leu
M0038960 ALCMGEHG_00014 12043 3 Skin 0.01 protein_coding synonymous_variant LOW 282T>C Asp94Asp
M0038961 ALCMGEHG_00014 12046 3 Skin 0.01 protein_coding synonymous_variant LOW 279G>C Ser93Ser
M0038962 ALCMGEHG_00014 12049 3 Skin 0.01 protein_coding synonymous_variant LOW 276A>C Ala92Ala
M0038963 ALCMGEHG_00014 12323 5 Skin 0.02 protein_coding start_lost HIGH 2T>C Met1?
M0038964 ALCMGEHG_00015 12597 12 Skin 0.05 protein_coding synonymous_variant LOW 183G>A Lys61Lys
M0038965 ALCMGEHG_00015 12600 12 Skin 0.05 protein_coding synonymous_variant LOW 186C>T Ser62Ser
M0038966 ALCMGEHG_00015 12622 12 Skin 0.05 protein_coding missense_variant MODERATE 208G>T Ala70Ser
M0038967 ALCMGEHG_00015 12624 12 Skin 0.05 protein_coding synonymous_variant LOW 210T>G Ala70Ala
M0038968 ALCMGEHG_00015 12630 12 Skin 0.05 protein_coding synonymous_variant LOW 216T>C Cys72Cys
M0038969 ALCMGEHG_00015 12633 12 Skin 0.05 protein_coding synonymous_variant LOW 219G>A Ser73Ser
M0038970 ALCMGEHG_00015 12645 12 Skin 0.05 protein_coding synonymous_variant LOW 231C>G Gly77Gly
M0038971 ALCMGEHG_00015 12648 12 Skin 0.05 protein_coding synonymous_variant LOW 234A>G Ala78Ala
M0038972 ALCMGEHG_00015 12651 12 Skin 0.05 protein_coding synonymous_variant LOW 237C>T Asp79Asp
M0038973 ALCMGEHG_00015 12654 12 Skin 0.05 protein_coding synonymous_variant LOW 240C>T Thr80Thr
M0038974 ALCMGEHG_00015 12657 13 Skin 0.05 protein_coding synonymous_variant LOW 243C>T Gly81Gly
M0038975 ALCMGEHG_00015 12672 13 Skin 0.05 protein_coding synonymous_variant LOW 258G>C Arg86Arg
M0038976 ALCMGEHG_00015 12714 13 Skin 0.05 protein_coding synonymous_variant LOW 300G>A Ala100Ala
M0038977 ALCMGEHG_00015 12723 13 Skin 0.05 protein_coding synonymous_variant LOW 309C>G Ala103Ala
M0038978 ALCMGEHG_00015 12750 13 Skin 0.05 protein_coding synonymous_variant LOW 336C>G Leu112Leu
M0038979 ALCMGEHG_00015 12961 3 Skin 0.01 protein_coding missense_variant MODERATE 547C>A Arg183Ser
M0038980 ALCMGEHG_00015 12969 13 Skin 0.05 protein_coding synonymous_variant LOW 555C>T His185His
M0038981 ALCMGEHG_00015 13080 6 Skin 0.02 protein_coding synonymous_variant LOW 666C>T Leu222Leu
M0038982 ALCMGEHG_00015 13119 13 Skin 0.05 protein_coding synonymous_variant LOW 705G>T Pro235Pro
M0038983 ALCMGEHG_00015 13140 5 Skin 0.02 protein_coding synonymous_variant LOW 726C>T Ile242Ile
M0038984 ALCMGEHG_00015 13146 5 Skin 0.02 protein_coding synonymous_variant LOW 732G>A Gly244Gly
M0038985 ALCMGEHG_00015 13179 13 Skin 0.05 protein_coding synonymous_variant LOW 765T>C His255His
M0038986 ALCMGEHG_00015 13188 13 Skin 0.05 protein_coding synonymous_variant LOW 774C>T Pro258Pro
M0038987 ALCMGEHG_00015 13193 13 Skin 0.05 protein_coding missense_variant MODERATE 779A>C Tyr260Ser
M0038988 ALCMGEHG_00015 13224 13 Skin 0.05 protein_coding synonymous_variant LOW 810G>T Leu270Leu
M0038989 ALCMGEHG_00015 13257 13 Skin 0.05 protein_coding synonymous_variant LOW 843A>G Ala281Ala
M0038990 ALCMGEHG_00015 13323 11 Skin 0.04 protein_coding synonymous_variant LOW 909G>C Leu303Leu
M0038991 ALCMGEHG_00015 13326 11 Skin 0.04 protein_coding synonymous_variant LOW 912A>C Gly304Gly
M0038992 ALCMGEHG_00015 13358 11 Skin 0.04 protein_coding missense_variant MODERATE 944G>A Gly315Asp
M0038993 ALCMGEHG_00015 13377 11 Skin 0.04 protein_coding synonymous_variant LOW 963C>T Leu321Leu
M0038994 ALCMGEHG_00015 13416 7 Skin 0.03 protein_coding missense_variant MODERATE 1002G>C Leu334Phe
M0038995 ALCMGEHG_00015 13417 7 Skin 0.03 protein_coding missense_variant MODERATE 1003A>G Lys335Glu
M0038996 ALCMGEHG_00015 13436 7 Skin 0.03 protein_coding missense_variant MODERATE 1022T>C Val341Ala
M0038997 ALCMGEHG_00020 20733 3 Skin 0.01 protein_coding synonymous_variant LOW 1641C>T His547His
M0038998 ALCMGEHG_00020 20739 3 Skin 0.01 protein_coding synonymous_variant LOW 1647T>G Gly549Gly
M0038999 ALCMGEHG_00020 20742 3 Skin 0.01 protein_coding synonymous_variant LOW 1650G>A Gln550Gln
M0039000 ALCMGEHG_00020 20745 3 Skin 0.01 protein_coding synonymous_variant LOW 1653G>C Ala551Ala
M0039001 ALCMGEHG_00020 20781 3 Skin 0.01 protein_coding synonymous_variant LOW 1689G>C Thr563Thr
M0039002 ALCMGEHG_00020 20799 3 Skin 0.01 protein_coding synonymous_variant LOW 1707A>G Gly569Gly
M0039003 ALCMGEHG_00020 20803 3 Skin 0.01 protein_coding missense_variant MODERATE 1711A>G Thr571Ala
M0039004 ALCMGEHG_00020 21234 3 Skin 0.01 protein_coding synonymous_variant LOW 2142A>G Glu714Glu
M0039005 ALCMGEHG_00020 21537 3 Skin 0.01 protein_coding synonymous_variant LOW 2445G>C Val815Val
M0039006 ALCMGEHG_00020 21549 3 Skin 0.01 protein_coding synonymous_variant LOW 2457C>G Thr819Thr
M0039007 ALCMGEHG_00018 21628 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4064A>G None
M0039008 ALCMGEHG_00021 22137 4 Skin 0.02 protein_coding synonymous_variant LOW 414C>T Gly138Gly
M0039009 ALCMGEHG_00021 22140 4 Skin 0.02 protein_coding synonymous_variant LOW 417C>G Gly139Gly
M0039010 ALCMGEHG_00021 22143 4 Skin 0.02 protein_coding synonymous_variant LOW 420C>G Gly140Gly
M0039011 ALCMGEHG_00021 22791 3 Skin 0.01 protein_coding synonymous_variant LOW 1068A>G Ala356Ala
M0039012 ALCMGEHG_00021 22798 3 Skin 0.01 protein_coding missense_variant MODERATE 1075G>A Glu359Lys
M0039013 ALCMGEHG_00021 22833 3 Skin 0.01 protein_coding synonymous_variant LOW 1110T>C Ala370Ala
M0039014 ALCMGEHG_00021 22932 3 Skin 0.01 protein_coding synonymous_variant LOW 1209C>T Gly403Gly
M0039015 ALCMGEHG_00021 23020 3 Skin 0.01 protein_coding missense_variant MODERATE 1297A>G Ser433Gly
M0039016 ALCMGEHG_00021 23112 6 Skin 0.02 protein_coding synonymous_variant LOW 1389G>C Val463Val
M0039017 ALCMGEHG_00022 23302 4 Skin 0.02 protein_coding synonymous_variant LOW 12T>C Val4Val
M0039018 ALCMGEHG_00022 23320 6 Skin 0.02 protein_coding synonymous_variant LOW 30C>T Leu10Leu
M0039019 ALCMGEHG_00022 23470 4 Skin 0.02 protein_coding synonymous_variant LOW 180C>T Gly60Gly
M0039020 ALCMGEHG_00022 23549 5 Skin 0.02 protein_coding missense_variant MODERATE 259A>G Thr87Ala
M0039021 ALCMGEHG_00022 23550 5 Skin 0.02 protein_coding missense_variant MODERATE 260C>A Thr87Asn
M0039022 ALCMGEHG_00022 23551 5 Skin 0.02 protein_coding synonymous_variant LOW 261C>G Thr87Thr
M0039023 ALCMGEHG_00022 23555 4 Skin 0.02 protein_coding missense_variant MODERATE 265G>A Asp89Asn
M0039024 ALCMGEHG_00022 23631 3 Skin 0.01 protein_coding missense_variant MODERATE 341G>A Arg114Gln
M0039025 ALCMGEHG_00022 23746 5 Skin 0.02 protein_coding synonymous_variant LOW 456T>C Ala152Ala
M0039026 ALCMGEHG_00022 24124 6 Skin 0.02 protein_coding synonymous_variant LOW 834G>C Thr278Thr
M0039027 ALCMGEHG_00022 24133 3 Skin 0.01 protein_coding synonymous_variant LOW 843C>T Ile281Ile
M0039028 ALCMGEHG_00022 24161 6 Skin 0.02 protein_coding missense_variant MODERATE 871G>C Val291Leu
M0039029 ALCMGEHG_00022 24184 6 Skin 0.02 protein_coding synonymous_variant LOW 894G>A Pro298Pro
M0039030 ALCMGEHG_00022 24187 6 Skin 0.02 protein_coding synonymous_variant LOW 897A>C Ala299Ala
M0039031 ALCMGEHG_00022 24193 6 Skin 0.02 protein_coding synonymous_variant LOW 903A>G Ala301Ala
M0039032 ALCMGEHG_00023 24220 6 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -182A>G None
M0039033 ALCMGEHG_00023 24224 6 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -178G>A None
M0039034 ALCMGEHG_00023 24450 5 Skin 0.02 protein_coding missense_variant MODERATE 49C>T Pro17Ser
M0039035 ALCMGEHG_00023 24453 5 Skin 0.02 protein_coding missense_variant MODERATE 52G>A Val18Ile
M0039036 ALCMGEHG_00023 24455 5 Skin 0.02 protein_coding synonymous_variant LOW 54C>T Val18Val
M0039037 ALCMGEHG_00023 24462 5 Skin 0.02 protein_coding missense_variant MODERATE 61A>G Ser21Gly
M0039038 ALCMGEHG_00023 24467 5 Skin 0.02 protein_coding synonymous_variant LOW 66C>T Phe22Phe
M0039039 ALCMGEHG_00023 24470 5 Skin 0.02 protein_coding synonymous_variant LOW 69G>C Ala23Ala
M0039040 ALCMGEHG_00023 24474 5 Skin 0.02 protein_coding missense_variant MODERATE 73A>T Ile25Phe
M0039041 ALCMGEHG_00023 24476 5 Skin 0.02 protein_coding missense_variant MODERATE 75C>G Ile25Met
M0039042 ALCMGEHG_00023 24479 5 Skin 0.02 protein_coding synonymous_variant LOW 78G>C Leu26Leu
M0039043 ALCMGEHG_00023 24481 5 Skin 0.02 protein_coding missense_variant MODERATE 80C>G Thr27Ser
M0039044 ALCMGEHG_00023 24491 5 Skin 0.02 protein_coding synonymous_variant LOW 90C>G Ala30Ala
M0039045 ALCMGEHG_00023 24494 5 Skin 0.02 protein_coding synonymous_variant LOW 93C>T Ile31Ile
M0039046 ALCMGEHG_00023 24557 6 Skin 0.02 protein_coding synonymous_variant LOW 156C>G Pro52Pro
M0039047 ALCMGEHG_00023 24836 5 Skin 0.02 protein_coding synonymous_variant LOW 435A>C Pro145Pro
M0039048 ALCMGEHG_00023 24839 5 Skin 0.02 protein_coding synonymous_variant LOW 438T>C Gly146Gly
M0039049 ALCMGEHG_00023 25085 7 Skin 0.03 protein_coding synonymous_variant LOW 684A>G Ala228Ala
M0039050 ALCMGEHG_00028 29467 3 Skin 0.01 protein_coding synonymous_variant LOW 219T>C Leu73Leu
M0039051 ALCMGEHG_00030 30889 10 Skin 0.04 protein_coding synonymous_variant LOW 861G>C Leu287Leu
M0039052 ALCMGEHG_00030 30892 10 Skin 0.04 protein_coding synonymous_variant LOW 858G>C Thr286Thr
M0039053 ALCMGEHG_00030 31060 8 Skin 0.03 protein_coding synonymous_variant LOW 690T>C Pro230Pro
M0039054 ALCMGEHG_00030 31063 8 Skin 0.03 protein_coding synonymous_variant LOW 687G>A Gln229Gln
M0039055 ALCMGEHG_00030 31068 8 Skin 0.03 protein_coding synonymous_variant LOW 682C>A Arg228Arg
M0039056 ALCMGEHG_00030 31177 9 Skin 0.04 protein_coding synonymous_variant LOW 573C>G Val191Val
M0039057 ALCMGEHG_00030 31180 9 Skin 0.04 protein_coding synonymous_variant LOW 570T>C Gly190Gly
M0039058 ALCMGEHG_00030 31186 9 Skin 0.04 protein_coding synonymous_variant LOW 564G>C Arg188Arg
M0039059 ALCMGEHG_00030 31189 9 Skin 0.04 protein_coding synonymous_variant LOW 561C>G Arg187Arg
M0039060 ALCMGEHG_00030 31192 9 Skin 0.04 protein_coding synonymous_variant LOW 558A>G Gln186Gln
M0039061 ALCMGEHG_00030 31219 9 Skin 0.04 protein_coding synonymous_variant LOW 531G>T Ala177Ala
M0039062 ALCMGEHG_00030 31220 9 Skin 0.04 protein_coding missense_variant MODERATE 530C>A Ala177Glu
M0039063 ALCMGEHG_00030 31221 9 Skin 0.04 protein_coding missense_variant MODERATE 529G>A Ala177Thr
M0039064 ALCMGEHG_00030 31222 9 Skin 0.04 protein_coding synonymous_variant LOW 528A>G Glu176Glu
M0039065 ALCMGEHG_00030 31285 12 Skin 0.05 protein_coding synonymous_variant LOW 465G>A Lys155Lys
M0039066 ALCMGEHG_00030 31291 9 Skin 0.04 protein_coding synonymous_variant LOW 459T>C Asp153Asp
M0039067 ALCMGEHG_00030 31294 9 Skin 0.04 protein_coding synonymous_variant LOW 456C>T Pro152Pro
M0039068 ALCMGEHG_00030 31306 9 Skin 0.04 protein_coding synonymous_variant LOW 444T>C Asn148Asn
M0039069 ALCMGEHG_00030 31447 7 Skin 0.03 protein_coding synonymous_variant LOW 303C>G Leu101Leu
M0039070 ALCMGEHG_00031 32231 8 Skin 0.03 protein_coding synonymous_variant LOW 1242G>C Ser414Ser
M0039071 ALCMGEHG_00031 32234 8 Skin 0.03 protein_coding synonymous_variant LOW 1239A>C Ala413Ala
M0039072 ALCMGEHG_00031 32237 8 Skin 0.03 protein_coding synonymous_variant LOW 1236C>A Gly412Gly
M0039073 ALCMGEHG_00031 32240 8 Skin 0.03 protein_coding synonymous_variant LOW 1233G>C Leu411Leu
M0039074 ALCMGEHG_00031 32251 8 Skin 0.03 protein_coding synonymous_variant LOW 1222T>C Leu408Leu
M0039075 ALCMGEHG_00031 32252 8 Skin 0.03 protein_coding synonymous_variant LOW 1221T>G Leu407Leu
M0039076 ALCMGEHG_00031 32258 8 Skin 0.03 protein_coding synonymous_variant LOW 1215C>G Pro405Pro
M0039077 ALCMGEHG_00031 32546 3 Skin 0.01 protein_coding synonymous_variant LOW 927C>A Gly309Gly
M0039078 ALCMGEHG_00031 32564 3 Skin 0.01 protein_coding synonymous_variant LOW 909C>A Ala303Ala
M0039079 ALCMGEHG_00031 32567 3 Skin 0.01 protein_coding synonymous_variant LOW 906C>G Leu302Leu
M0039080 ALCMGEHG_00031 32587 5 Skin 0.02 protein_coding synonymous_variant LOW 886C>T Leu296Leu
M0039081 ALCMGEHG_00031 32621 3 Skin 0.01 protein_coding synonymous_variant LOW 852T>C Phe284Phe
M0039082 ALCMGEHG_00053 56755 4 Skin 0.02 protein_coding synonymous_variant LOW 1080C>T His360His
M0039083 ALCMGEHG_00053 56923 4 Skin 0.02 protein_coding synonymous_variant LOW 912C>G Pro304Pro
M0039084 ALCMGEHG_00041 42974 3 Skin 0.01 protein_coding synonymous_variant LOW 628T>C Leu210Leu
M0039085 ALCMGEHG_00041 43118 4 Skin 0.02 protein_coding missense_variant MODERATE 484A>C Met162Leu
M0039086 ALCMGEHG_00041 43170 4 Skin 0.02 protein_coding synonymous_variant LOW 432T>C His144His
M0039087 ALCMGEHG_00042 43939 4 Skin 0.02 protein_coding missense_variant MODERATE 1045C>A His349Asn
M0039088 ALCMGEHG_00042 44133 3 Skin 0.01 protein_coding missense_variant MODERATE 851T>C Ile284Thr
M0039089 ALCMGEHG_00042 44138 3 Skin 0.01 protein_coding synonymous_variant LOW 846G>C Leu282Leu
M0039090 ALCMGEHG_00042 44405 4 Skin 0.02 protein_coding synonymous_variant LOW 579T>G Pro193Pro
M0039091 ALCMGEHG_00042 44597 3 Skin 0.01 protein_coding synonymous_variant LOW 387C>T Pro129Pro
M0039092 ALCMGEHG_00042 44810 3 Skin 0.01 protein_coding synonymous_variant LOW 174G>A Glu58Glu
M0039093 ALCMGEHG_00042 44837 3 Skin 0.01 protein_coding missense_variant MODERATE 147C>A Asp49Glu
M0039094 ALCMGEHG_00031 32303 9 Skin 0.04 protein_coding synonymous_variant LOW 1170G>T Leu390Leu
M0039095 ALCMGEHG_00031 32306 9 Skin 0.04 protein_coding synonymous_variant LOW 1167G>C Pro389Pro
M0039096 ALCMGEHG_00033 34576 3 Skin 0.01 protein_coding missense_variant MODERATE 1009A>G Asn337Asp
M0039097 ALCMGEHG_00033 34577 3 Skin 0.01 protein_coding synonymous_variant LOW 1008G>T Leu336Leu
M0039098 ALCMGEHG_00033 35009 4 Skin 0.02 protein_coding synonymous_variant LOW 576C>T Val192Val
M0039099 ALCMGEHG_00033 35015 4 Skin 0.02 protein_coding synonymous_variant LOW 570C>T Thr190Thr
M0039100 ALCMGEHG_00033 35018 4 Skin 0.02 protein_coding synonymous_variant LOW 567T>C Cys189Cys
M0039101 ALCMGEHG_00033 35024 4 Skin 0.02 protein_coding synonymous_variant LOW 561A>G Ala187Ala
M0039102 ALCMGEHG_00003 3002 4 Skin 0.02 protein_coding synonymous_variant LOW 213C>T His71His
M0039103 ALCMGEHG_00003 3008 6 Skin 0.02 protein_coding synonymous_variant LOW 207T>G Gly69Gly
M0039104 ALCMGEHG_00003 3014 4 Skin 0.02 protein_coding synonymous_variant LOW 201C>A Pro67Pro
M0039105 ALCMGEHG_00006 4386 9 Skin 0.04 protein_coding synonymous_variant LOW 261C>G Ala87Ala
M0039106 ALCMGEHG_00011 9912 3 Skin 0.01 protein_coding synonymous_variant LOW 657G>C Thr219Thr
M0039107 ALCMGEHG_00011 9936 4 Skin 0.02 protein_coding synonymous_variant LOW 633G>A Ala211Ala
M0039108 ALCMGEHG_00011 9950 4 Skin 0.02 protein_coding synonymous_variant LOW 619C>T Leu207Leu
M0039109 ALCMGEHG_00011 9981 5 Skin 0.02 protein_coding synonymous_variant LOW 588T>C Phe196Phe
M0039110 ALCMGEHG_00011 9987 5 Skin 0.02 protein_coding missense_variant MODERATE 582G>C Lys194Asn
M0039111 ALCMGEHG_00011 9988 5 Skin 0.02 protein_coding missense_variant MODERATE 581A>G Lys194Arg
M0039112 ALCMGEHG_00011 9989 5 Skin 0.02 protein_coding missense_variant MODERATE 580A>C Lys194Gln
M0039113 ALCMGEHG_00011 9995 5 Skin 0.02 protein_coding synonymous_variant LOW 574T>C Leu192Leu
M0039114 ALCMGEHG_00011 9999 5 Skin 0.02 protein_coding missense_variant MODERATE 570A>C Lys190Asn
M0039115 ALCMGEHG_00011 10000 5 Skin 0.02 protein_coding missense_variant MODERATE 569A>G Lys190Arg
M0039116 ALCMGEHG_00011 10001 5 Skin 0.02 protein_coding missense_variant MODERATE 568A>C Lys190Gln
M0039117 ALCMGEHG_00012 10579 4 Skin 0.02 protein_coding synonymous_variant LOW 199C>T Leu67Leu
M0039118 ALCMGEHG_00014 12103 3 Skin 0.01 protein_coding synonymous_variant LOW 222G>A Glu74Glu
M0039119 ALCMGEHG_00014 12139 3 Skin 0.01 protein_coding synonymous_variant LOW 186T>C His62His
M0039120 ALCMGEHG_00014 12142 3 Skin 0.01 protein_coding synonymous_variant LOW 183G>C Thr61Thr
M0039121 ALCMGEHG_00009 8526 11 Skin 0.04 protein_coding synonymous_variant LOW 81T>C Arg27Arg
M0039122 ALCMGEHG_00009 8529 11 Skin 0.04 protein_coding synonymous_variant LOW 78C>A Leu26Leu
M0039123 ALCMGEHG_00009 8532 11 Skin 0.04 protein_coding synonymous_variant LOW 75C>G Ala25Ala
M0039124 ALCMGEHG_00047 48469 5 Skin 0.02 protein_coding synonymous_variant LOW 387G>C Leu129Leu
M0039125 ALCMGEHG_00047 48470 5 Skin 0.02 protein_coding synonymous_variant LOW 388C>T Leu130Leu
M0039126 ALCMGEHG_00047 48556 4 Skin 0.02 protein_coding synonymous_variant LOW 474C>T Ala158Ala
M0039127 ALCMGEHG_00048 49569 10 Skin 0.04 protein_coding synonymous_variant LOW 90A>G Glu30Glu
M0039128 ALCMGEHG_00048 49596 13 Skin 0.05 protein_coding synonymous_variant LOW 117T>C Phe39Phe
M0039129 ALCMGEHG_00048 49890 6 Skin 0.02 protein_coding synonymous_variant LOW 411G>A Thr137Thr
M0039130 ALCMGEHG_00048 49974 7 Skin 0.03 protein_coding synonymous_variant LOW 495G>A Ala165Ala
M0039131 ALCMGEHG_00048 49980 7 Skin 0.03 protein_coding synonymous_variant LOW 501A>T Gly167Gly
M0039132 ALCMGEHG_00048 50001 10 Skin 0.04 protein_coding synonymous_variant LOW 522A>G Ala174Ala
M0039133 ALCMGEHG_00048 50025 10 Skin 0.04 protein_coding synonymous_variant LOW 546C>G Gly182Gly
M0039134 ALCMGEHG_00048 50029 10 Skin 0.04 protein_coding missense_variant MODERATE 550G>A Val184Ile
M0039135 ALCMGEHG_00048 50030 10 Skin 0.04 protein_coding missense_variant MODERATE 551T>C Val184Ala
M0039136 ALCMGEHG_00048 50046 3 Skin 0.01 protein_coding synonymous_variant LOW 567G>A Val189Val
M0039137 ALCMGEHG_00048 50070 9 Skin 0.04 protein_coding synonymous_variant LOW 591T>G Leu197Leu
M0039138 ALCMGEHG_00048 50184 6 Skin 0.02 protein_coding synonymous_variant LOW 705C>G Thr235Thr
M0039139 ALCMGEHG_00048 50187 6 Skin 0.02 protein_coding synonymous_variant LOW 708C>T Ile236Ile
M0039140 ALCMGEHG_00048 50193 5 Skin 0.02 protein_coding synonymous_variant LOW 714G>C Thr238Thr
M0039141 ALCMGEHG_00048 50214 9 Skin 0.04 protein_coding synonymous_variant LOW 735C>T Asn245Asn
M0039142 ALCMGEHG_00048 50229 6 Skin 0.02 protein_coding synonymous_variant LOW 750A>G Ala250Ala
M0039143 ALCMGEHG_00048 50232 6 Skin 0.02 protein_coding synonymous_variant LOW 753A>G Ala251Ala
M0039144 ALCMGEHG_00048 50307 4 Skin 0.02 protein_coding synonymous_variant LOW 828C>T Val276Val
M0039145 ALCMGEHG_00048 50388 3 Skin 0.01 protein_coding synonymous_variant LOW 909A>G Ala303Ala
M0039146 ALCMGEHG_00048 50397 3 Skin 0.01 protein_coding synonymous_variant LOW 918T>C Ile306Ile
M0039147 ALCMGEHG_00048 50415 3 Skin 0.01 protein_coding synonymous_variant LOW 936A>G Val312Val
M0039148 ALCMGEHG_00048 50442 4 Skin 0.02 protein_coding synonymous_variant LOW 963G>C Leu321Leu
M0039149 ALCMGEHG_00048 50445 3 Skin 0.01 protein_coding synonymous_variant LOW 966G>C Ala322Ala
M0039150 ALCMGEHG_00048 50451 3 Skin 0.01 protein_coding synonymous_variant LOW 972G>A Ala324Ala
M0039151 ALCMGEHG_00048 50454 3 Skin 0.01 protein_coding synonymous_variant LOW 975C>T Gly325Gly
M0039152 ALCMGEHG_00048 50460 3 Skin 0.01 protein_coding synonymous_variant LOW 981C>T Pro327Pro
M0039153 ALCMGEHG_00048 50478 3 Skin 0.01 protein_coding synonymous_variant LOW 999T>C Gly333Gly
M0039154 ALCMGEHG_00048 50508 4 Skin 0.02 protein_coding synonymous_variant LOW 1029C>T Gly343Gly
M0039155 ALCMGEHG_00048 50568 12 Skin 0.05 protein_coding synonymous_variant LOW 1089C>T Ala363Ala
M0039156 ALCMGEHG_00048 50591 9 Skin 0.04 protein_coding missense_variant MODERATE 1112G>A Gly371Glu
M0039157 ALCMGEHG_00048 50832 16 Skin 0.06 protein_coding synonymous_variant LOW 1353C>A Arg451Arg
M0039158 ALCMGEHG_00048 50833 16 Skin 0.06 protein_coding synonymous_variant LOW 1354C>T Leu452Leu
M0039159 ALCMGEHG_00048 50841 14 Skin 0.05 protein_coding synonymous_variant LOW 1362C>T Asn454Asn
M0039160 ALCMGEHG_00049 50989 15 Skin 0.06 protein_coding synonymous_variant LOW 72C>G Val24Val
M0039161 ALCMGEHG_00049 51003 8 Skin 0.03 protein_coding missense_variant MODERATE 86A>G Asp29Gly
M0039162 ALCMGEHG_00049 51004 8 Skin 0.03 protein_coding synonymous_variant LOW 87C>T Asp29Asp
M0039163 ALCMGEHG_00028 29059 4 Skin 0.02 protein_coding synonymous_variant LOW 627G>A Thr209Thr
M0039164 ALCMGEHG_00028 29061 4 Skin 0.02 protein_coding missense_variant MODERATE 625A>G Thr209Ala
M0039165 ALCMGEHG_00028 29108 5 Skin 0.02 protein_coding missense_variant MODERATE 578A>G His193Arg
M0039166 ALCMGEHG_00065 75449 4 Skin 0.02 protein_coding synonymous_variant LOW 1432T>C Leu478Leu
M0039167 ALCMGEHG_00065 75459 4 Skin 0.02 protein_coding synonymous_variant LOW 1422G>A Gln474Gln
M0039168 ALCMGEHG_00065 75464 4 Skin 0.02 protein_coding missense_variant MODERATE 1417T>G Ser473Ala
M0039169 ALCMGEHG_00065 75465 4 Skin 0.02 protein_coding synonymous_variant LOW 1416C>T Phe472Phe
M0039170 ALCMGEHG_00065 75466 4 Skin 0.02 protein_coding missense_variant MODERATE 1415T>A Phe472Tyr
M0039171 ALCMGEHG_00065 75470 4 Skin 0.02 protein_coding missense_variant MODERATE 1411T>G Phe471Val
M0039172 ALCMGEHG_00065 75474 4 Skin 0.02 protein_coding synonymous_variant LOW 1407G>C Ala469Ala
M0039173 ALCMGEHG_00065 75477 4 Skin 0.02 protein_coding synonymous_variant LOW 1404A>G Gln468Gln
M0039174 ALCMGEHG_00009 7749 4 Skin 0.02 protein_coding synonymous_variant LOW 858C>T Gly286Gly
M0039175 ALCMGEHG_00009 8481 11 Skin 0.04 protein_coding synonymous_variant LOW 126C>T Tyr42Tyr
M0039176 ALCMGEHG_00010 8788 11 Skin 0.04 protein_coding synonymous_variant LOW 375C>G Val125Val
M0039177 ALCMGEHG_00010 8932 7 Skin 0.03 protein_coding synonymous_variant LOW 231G>A Thr77Thr
M0039178 ALCMGEHG_00010 8941 9 Skin 0.04 protein_coding missense_variant MODERATE 222G>C Gln74His
M0039179 ALCMGEHG_00010 8944 9 Skin 0.04 protein_coding synonymous_variant LOW 219A>C Ala73Ala
M0039180 ALCMGEHG_00010 8949 9 Skin 0.04 protein_coding missense_variant MODERATE 214G>A Asp72Asn
M0039181 ALCMGEHG_00010 8956 4 Skin 0.02 protein_coding synonymous_variant LOW 207C>T Ala69Ala
M0039182 ALCMGEHG_00010 8962 4 Skin 0.02 protein_coding synonymous_variant LOW 201G>T Val67Val
M0039183 ALCMGEHG_00010 8985 12 Skin 0.05 protein_coding missense_variant MODERATE 178A>G Met60Val
M0039184 ALCMGEHG_00010 8986 12 Skin 0.05 protein_coding synonymous_variant LOW 177T>C Thr59Thr
M0039185 ALCMGEHG_00010 9082 5 Skin 0.02 protein_coding synonymous_variant LOW 81A>G Gln27Gln
M0039186 ALCMGEHG_00010 9133 7 Skin 0.03 protein_coding synonymous_variant LOW 30A>C Ala10Ala
M0039187 ALCMGEHG_00011 9174 7 Skin 0.03 protein_coding synonymous_variant LOW 1395G>A Glu465Glu
M0039188 ALCMGEHG_00011 9180 3 Skin 0.01 protein_coding synonymous_variant LOW 1389C>T Asp463Asp
M0039189 ALCMGEHG_00011 9204 5 Skin 0.02 protein_coding synonymous_variant LOW 1365C>G Ala455Ala
M0039190 ALCMGEHG_00011 9251 7 Skin 0.03 protein_coding missense_variant MODERATE 1318A>G Thr440Ala
M0039191 ALCMGEHG_00011 9294 3 Skin 0.01 protein_coding synonymous_variant LOW 1275T>C Asn425Asn
M0039192 ALCMGEHG_00011 9347 5 Skin 0.02 protein_coding synonymous_variant LOW 1222T>C Leu408Leu
M0039193 ALCMGEHG_00011 9348 5 Skin 0.02 protein_coding synonymous_variant LOW 1221A>G Leu407Leu
M0039194 ALCMGEHG_00011 9351 5 Skin 0.02 protein_coding synonymous_variant LOW 1218A>G Gly406Gly
M0039195 ALCMGEHG_00011 9356 3 Skin 0.01 protein_coding missense_variant MODERATE 1213C>T Pro405Ser
M0039196 ALCMGEHG_00011 9377 4 Skin 0.02 protein_coding missense_variant MODERATE 1192G>A Ala398Thr
M0039197 ALCMGEHG_00011 9383 4 Skin 0.02 protein_coding missense_variant MODERATE 1186G>A Ala396Thr
M0039198 ALCMGEHG_00011 9384 6 Skin 0.02 protein_coding synonymous_variant LOW 1185A>G Val395Val
M0039199 ALCMGEHG_00011 9432 3 Skin 0.01 protein_coding synonymous_variant LOW 1137G>A Glu379Glu
M0039200 ALCMGEHG_00011 9435 4 Skin 0.02 protein_coding synonymous_variant LOW 1134G>C Pro378Pro
M0039201 ALCMGEHG_00011 9437 4 Skin 0.02 protein_coding missense_variant MODERATE 1132C>G Pro378Ala
M0039202 ALCMGEHG_00011 9594 3 Skin 0.01 protein_coding synonymous_variant LOW 975G>T Pro325Pro
M0039203 ALCMGEHG_00011 9650 3 Skin 0.01 protein_coding synonymous_variant LOW 919T>C Leu307Leu
M0039204 ALCMGEHG_00011 9655 5 Skin 0.02 protein_coding missense_variant MODERATE 914A>C Glu305Ala
M0039205 ALCMGEHG_00014 11350 3 Skin 0.01 protein_coding synonymous_variant LOW 975C>T Ser325Ser
M0039206 ALCMGEHG_00015 13059 7 Skin 0.03 protein_coding synonymous_variant LOW 645T>C Ser215Ser
M0039207 ALCMGEHG_00043 45249 3 Skin 0.01 protein_coding missense_variant MODERATE 245T>C Val82Ala
M0039208 ALCMGEHG_00043 45272 3 Skin 0.01 protein_coding synonymous_variant LOW 222C>T Gly74Gly
M0039209 ALCMGEHG_00043 45341 4 Skin 0.02 protein_coding synonymous_variant LOW 153G>A Pro51Pro
M0039210 ALCMGEHG_00043 45446 3 Skin 0.01 protein_coding synonymous_variant LOW 48C>T Val16Val
M0039211 ALCMGEHG_00044 45847 3 Skin 0.01 protein_coding synonymous_variant LOW 444T>C Ser148Ser
M0039212 ALCMGEHG_00045 46496 4 Skin 0.02 protein_coding synonymous_variant LOW 384C>T His128His
M0039213 ALCMGEHG_00045 46593 4 Skin 0.02 protein_coding missense_variant MODERATE 287G>A Cys96Tyr
M0039214 ALCMGEHG_00045 46814 4 Skin 0.02 protein_coding synonymous_variant LOW 66C>T His22His
M0039215 ALCMGEHG_00045 46823 4 Skin 0.02 protein_coding synonymous_variant LOW 57G>A Gln19Gln
M0039216 ALCMGEHG_00040 46881 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4077A>G None
M0039217 ALCMGEHG_00047 48439 4 Skin 0.02 protein_coding synonymous_variant LOW 357G>C Ala119Ala
M0039218 ALCMGEHG_00047 49234 6 Skin 0.02 protein_coding synonymous_variant LOW 1152G>C Ala384Ala
M0039219 ALCMGEHG_00048 49645 14 Skin 0.05 protein_coding missense_variant MODERATE 166C>A His56Asn
M0039220 ALCMGEHG_00048 49662 11 Skin 0.04 protein_coding synonymous_variant LOW 183G>T Leu61Leu
M0039221 ALCMGEHG_00048 49663 11 Skin 0.04 protein_coding missense_variant MODERATE 184C>G Gln62Glu
M0039222 ALCMGEHG_00048 49683 11 Skin 0.04 protein_coding synonymous_variant LOW 204C>T Ala68Ala
M0039223 ALCMGEHG_00048 49740 7 Skin 0.03 protein_coding synonymous_variant LOW 261G>A Ala87Ala
M0039224 ALCMGEHG_00048 49741 7 Skin 0.03 protein_coding synonymous_variant LOW 262C>T Leu88Leu
M0039225 ALCMGEHG_00048 49744 7 Skin 0.03 protein_coding missense_variant MODERATE 265C>G Arg89Gly
M0039226 ALCMGEHG_00048 49755 11 Skin 0.04 protein_coding synonymous_variant LOW 276C>T Arg92Arg
M0039227 ALCMGEHG_00048 49761 11 Skin 0.04 protein_coding synonymous_variant LOW 282A>G Ser94Ser
M0039228 ALCMGEHG_00048 49765 11 Skin 0.04 protein_coding missense_variant MODERATE 286A>G Lys96Glu
M0039229 ALCMGEHG_00048 49770 11 Skin 0.04 protein_coding synonymous_variant LOW 291G>C Val97Val
M0039230 ALCMGEHG_00048 49773 11 Skin 0.04 protein_coding synonymous_variant LOW 294A>G Thr98Thr
M0039231 ALCMGEHG_00048 49785 11 Skin 0.04 protein_coding synonymous_variant LOW 306A>G Glu102Glu
M0039232 ALCMGEHG_00048 50103 12 Skin 0.05 protein_coding synonymous_variant LOW 624C>G Val208Val
M0039233 ALCMGEHG_00048 50124 11 Skin 0.04 protein_coding synonymous_variant LOW 645C>G Leu215Leu
M0039234 ALCMGEHG_00048 50130 11 Skin 0.04 protein_coding synonymous_variant LOW 651C>T Ala217Ala
M0039235 ALCMGEHG_00048 50139 13 Skin 0.05 protein_coding synonymous_variant LOW 660T>C Ala220Ala
M0039236 ALCMGEHG_00048 50679 11 Skin 0.04 protein_coding synonymous_variant LOW 1200G>A Leu400Leu
M0039237 ALCMGEHG_00048 50691 11 Skin 0.04 protein_coding synonymous_variant LOW 1212C>G Arg404Arg
M0039238 ALCMGEHG_00048 50715 11 Skin 0.04 protein_coding missense_variant MODERATE 1236A>C Gln412His
M0039239 ALCMGEHG_00009 7759 3 Skin 0.01 protein_coding missense_variant MODERATE 848A>G Asp283Gly
M0039240 ALCMGEHG_00009 7761 3 Skin 0.01 protein_coding missense_variant MODERATE 846G>T Glu282Asp
M0039241 ALCMGEHG_00009 7762 3 Skin 0.01 protein_coding missense_variant MODERATE 845A>C Glu282Ala
M0039242 ALCMGEHG_00009 7763 3 Skin 0.01 protein_coding missense_variant MODERATE 844G>C Glu282Gln
M0039243 ALCMGEHG_00009 7764 3 Skin 0.01 protein_coding synonymous_variant LOW 843G>C Pro281Pro
M0039244 ALCMGEHG_00009 7767 3 Skin 0.01 protein_coding synonymous_variant LOW 840A>G Leu280Leu
M0039245 ALCMGEHG_00011 10278 3 Skin 0.01 protein_coding synonymous_variant LOW 291C>T Arg97Arg
M0039246 ALCMGEHG_00026 28385 4 Skin 0.02 protein_coding synonymous_variant LOW 60A>T Ile20Ile
M0039247 ALCMGEHG_00003 2813 9 Skin 0.04 protein_coding synonymous_variant LOW 402C>T Val134Val
M0039248 ALCMGEHG_00006 4209 7 Skin 0.03 protein_coding synonymous_variant LOW 84C>T Ser28Ser
M0039249 ALCMGEHG_00006 4212 7 Skin 0.03 protein_coding missense_variant MODERATE 87T>A Asp29Glu
M0039250 ALCMGEHG_00006 4272 7 Skin 0.03 protein_coding synonymous_variant LOW 147T>C Ser49Ser
M0039251 ALCMGEHG_00007 5224 10 Skin 0.04 protein_coding missense_variant MODERATE 295G>A Ala99Thr
M0039252 ALCMGEHG_00007 5344 9 Skin 0.04 protein_coding synonymous_variant LOW 415T>C Leu139Leu
M0039253 ALCMGEHG_00008 5722 8 Skin 0.03 protein_coding missense_variant MODERATE 82G>A Asp28Asn
M0039254 ALCMGEHG_00008 6636 7 Skin 0.03 protein_coding synonymous_variant LOW 996G>A Ala332Ala
M0039255 ALCMGEHG_00008 6957 7 Skin 0.03 protein_coding synonymous_variant LOW 1317C>A Ala439Ala
M0039256 ALCMGEHG_00071 87947 10 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4536C>T None
M0039257 ALCMGEHG_00071 88026 6 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4615A>G None
M0039258 ALCMGEHG_00077 88048 9 Skin 0.04 protein_coding synonymous_variant LOW 15C>T Ser5Ser
M0039259 ALCMGEHG_00078 88795 6 Skin 0.02 protein_coding missense_variant MODERATE 337A>T Met113Leu
M0039260 ALCMGEHG_00078 88830 5 Skin 0.02 protein_coding synonymous_variant LOW 372C>T Asn124Asn
M0039261 ALCMGEHG_00078 88885 5 Skin 0.02 protein_coding synonymous_variant LOW 427C>T Leu143Leu
M0039262 ALCMGEHG_00078 88905 10 Skin 0.04 protein_coding synonymous_variant LOW 447T>G Pro149Pro
M0039263 ALCMGEHG_00078 88908 10 Skin 0.04 protein_coding synonymous_variant LOW 450C>G Gly150Gly
M0039264 ALCMGEHG_00078 88917 9 Skin 0.04 protein_coding synonymous_variant LOW 459G>A Lys153Lys
M0039265 ALCMGEHG_00078 88947 8 Skin 0.03 protein_coding missense_variant MODERATE 489A>G Ile163Met
M0039266 ALCMGEHG_00078 89063 10 Skin 0.04 protein_coding missense_variant MODERATE 605G>A Arg202Lys
M0039267 ALCMGEHG_00078 89082 8 Skin 0.03 protein_coding synonymous_variant LOW 624G>C Leu208Leu
M0039268 ALCMGEHG_00078 89544 3 Skin 0.01 protein_coding synonymous_variant LOW 1086C>T Phe362Phe
M0039269 ALCMGEHG_00004 3447 4 Skin 0.02 protein_coding synonymous_variant LOW 117C>A Ile39Ile
M0039270 ALCMGEHG_00004 3450 4 Skin 0.02 protein_coding synonymous_variant LOW 114C>T Arg38Arg
M0039271 ALCMGEHG_00004 3453 4 Skin 0.02 protein_coding synonymous_variant LOW 111C>A Arg37Arg
M0039272 ALCMGEHG_00004 3456 4 Skin 0.02 protein_coding synonymous_variant LOW 108C>G Leu36Leu
M0039273 ALCMGEHG_00059 65330 4 Skin 0.02 protein_coding synonymous_variant LOW 438T>C Asp146Asp
M0039274 ALCMGEHG_00059 65387 5 Skin 0.02 protein_coding synonymous_variant LOW 381C>T Ser127Ser
M0039275 ALCMGEHG_00059 65426 4 Skin 0.02 protein_coding synonymous_variant LOW 342C>G Leu114Leu
M0039276 ALCMGEHG_00059 65444 4 Skin 0.02 protein_coding synonymous_variant LOW 324C>T Phe108Phe
M0039277 ALCMGEHG_00059 65500 6 Skin 0.02 protein_coding missense_variant MODERATE 268A>G Thr90Ala
M0039278 ALCMGEHG_00059 65521 6 Skin 0.02 protein_coding missense_variant MODERATE 247G>C Glu83Gln
M0039279 ALCMGEHG_00059 65524 6 Skin 0.02 protein_coding synonymous_variant LOW 244T>C Leu82Leu
M0039280 ALCMGEHG_00059 65549 6 Skin 0.02 protein_coding synonymous_variant LOW 219C>G Thr73Thr
M0039281 ALCMGEHG_00059 65555 6 Skin 0.02 protein_coding synonymous_variant LOW 213T>G Leu71Leu
M0039282 ALCMGEHG_00059 65558 6 Skin 0.02 protein_coding synonymous_variant LOW 210A>G Thr70Thr
M0039283 ALCMGEHG_00059 65567 6 Skin 0.02 protein_coding synonymous_variant LOW 201T>C Thr67Thr
M0039284 ALCMGEHG_00059 65573 6 Skin 0.02 protein_coding synonymous_variant LOW 195C>T Pro65Pro
M0039285 ALCMGEHG_00059 65576 6 Skin 0.02 protein_coding synonymous_variant LOW 192T>C Asn64Asn
M0039286 ALCMGEHG_00059 65588 6 Skin 0.02 protein_coding synonymous_variant LOW 180T>C Phe60Phe
M0039287 ALCMGEHG_00059 65591 6 Skin 0.02 protein_coding synonymous_variant LOW 177G>C Thr59Thr
M0039288 ALCMGEHG_00059 65606 6 Skin 0.02 protein_coding synonymous_variant LOW 162A>G Val54Val
M0039289 ALCMGEHG_00059 65753 5 Skin 0.02 protein_coding synonymous_variant LOW 15C>T Thr5Thr
M0039290 ALCMGEHG_00059 65759 5 Skin 0.02 protein_coding synonymous_variant LOW 9C>T His3His
M0039291 ALCMGEHG_00057 65820 6 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -3212T>C None
M0039292 ALCMGEHG_00060 65926 3 Skin 0.01 protein_coding synonymous_variant LOW 1515T>G Ala505Ala
M0039293 ALCMGEHG_00060 65932 3 Skin 0.01 protein_coding synonymous_variant LOW 1509A>G Glu503Glu
M0039294 ALCMGEHG_00060 65935 3 Skin 0.01 protein_coding synonymous_variant LOW 1506G>A Lys502Lys
M0039295 ALCMGEHG_00060 65938 3 Skin 0.01 protein_coding synonymous_variant LOW 1503T>C Thr501Thr
M0039296 ALCMGEHG_00060 67012 4 Skin 0.02 protein_coding synonymous_variant LOW 429T>G Val143Val
M0039297 ALCMGEHG_00060 67021 3 Skin 0.01 protein_coding synonymous_variant LOW 420G>C Pro140Pro
M0039298 ALCMGEHG_00022 23287 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4C>G None
M0039299 ALCMGEHG_00022 23365 3 Skin 0.01 protein_coding synonymous_variant LOW 75C>T Thr25Thr
M0039300 ALCMGEHG_00022 23461 3 Skin 0.01 protein_coding synonymous_variant LOW 171C>T Thr57Thr
M0039301 ALCMGEHG_00022 23725 3 Skin 0.01 protein_coding synonymous_variant LOW 435G>A Ala145Ala
M0039302 ALCMGEHG_00022 23860 5 Skin 0.02 protein_coding synonymous_variant LOW 570T>C Ala190Ala
M0039303 ALCMGEHG_00022 23937 5 Skin 0.02 protein_coding missense_variant MODERATE 647T>C Met216Thr
M0039304 ALCMGEHG_00022 24025 4 Skin 0.02 protein_coding synonymous_variant LOW 735C>T Phe245Phe
M0039305 ALCMGEHG_00022 24196 3 Skin 0.01 protein_coding synonymous_variant LOW 906C>T Val302Val
M0039306 ALCMGEHG_00023 25235 3 Skin 0.01 protein_coding synonymous_variant LOW 834T>C Asp278Asp
M0039307 ALCMGEHG_00078 89181 3 Skin 0.01 protein_coding synonymous_variant LOW 723C>T Ile241Ile
M0039308 ALCMGEHG_00078 89185 3 Skin 0.01 protein_coding synonymous_variant LOW 727C>T Leu243Leu
M0039309 ALCMGEHG_00048 50580 5 Skin 0.02 protein_coding synonymous_variant LOW 1101C>G Gly367Gly
M0039310 ALCMGEHG_00048 50604 5 Skin 0.02 protein_coding missense_variant MODERATE 1125C>A Asp375Glu
M0039311 ALCMGEHG_00048 50925 10 Skin 0.04 protein_coding stop_lost&splice_region_variant HIGH 1446A>G Ter482Trpext*?
M0039312 ALCMGEHG_00049 50927 10 Skin 0.04 protein_coding missense_variant MODERATE 10C>G Pro4Ala
M0039313 ALCMGEHG_00049 50928 10 Skin 0.04 protein_coding missense_variant MODERATE 11C>G Pro4Arg
M0039314 ALCMGEHG_00049 50932 10 Skin 0.04 protein_coding synonymous_variant LOW 15C>G Leu5Leu
M0039315 ALCMGEHG_00049 51448 8 Skin 0.03 protein_coding synonymous_variant LOW 531C>T Thr177Thr
M0039316 ALCMGEHG_00049 51451 8 Skin 0.03 protein_coding synonymous_variant LOW 534T>G Arg178Arg
M0039317 ALCMGEHG_00049 51478 5 Skin 0.02 protein_coding synonymous_variant LOW 561C>T Arg187Arg
M0039318 ALCMGEHG_00049 51487 5 Skin 0.02 protein_coding synonymous_variant LOW 570G>T Leu190Leu
M0039319 ALCMGEHG_00049 51490 5 Skin 0.02 protein_coding synonymous_variant LOW 573G>A Pro191Pro
M0039320 ALCMGEHG_00049 51642 9 Skin 0.04 protein_coding missense_variant MODERATE 725A>C Asn242Thr
M0039321 ALCMGEHG_00049 51661 4 Skin 0.02 protein_coding synonymous_variant LOW 744T>C Arg248Arg
M0039322 ALCMGEHG_00050 53176 3 Skin 0.01 protein_coding missense_variant MODERATE 436A>G Asn146Asp
M0039323 ALCMGEHG_00050 53517 5 Skin 0.02 protein_coding missense_variant MODERATE 95C>T Ala32Val
M0039324 ALCMGEHG_00048 50265 3 Skin 0.01 protein_coding synonymous_variant LOW 786T>C Gly262Gly
M0039325 ALCMGEHG_00048 50766 4 Skin 0.02 protein_coding synonymous_variant LOW 1287G>A Glu429Glu
M0039326 ALCMGEHG_00048 50768 4 Skin 0.02 protein_coding missense_variant MODERATE 1289G>A Ser430Asn
M0039327 ALCMGEHG_00061 68082 3 Skin 0.01 protein_coding synonymous_variant LOW 876A>G Val292Val
M0039328 ALCMGEHG_00061 68163 3 Skin 0.01 protein_coding synonymous_variant LOW 795C>G Thr265Thr
M0039329 ALCMGEHG_00061 68165 3 Skin 0.01 protein_coding missense_variant MODERATE 793A>T Thr265Ser
M0039330 ALCMGEHG_00061 68205 4 Skin 0.02 protein_coding synonymous_variant LOW 753A>G Lys251Lys
M0039331 ALCMGEHG_00061 68237 4 Skin 0.02 protein_coding missense_variant MODERATE 721G>C Val241Leu
M0039332 ALCMGEHG_00061 68244 4 Skin 0.02 protein_coding synonymous_variant LOW 714T>C His238His
M0039333 ALCMGEHG_00061 68247 4 Skin 0.02 protein_coding synonymous_variant LOW 711A>G Glu237Glu
M0039334 ALCMGEHG_00061 68249 4 Skin 0.02 protein_coding missense_variant MODERATE 709G>C Glu237Gln
M0039335 ALCMGEHG_00061 68251 4 Skin 0.02 protein_coding missense_variant MODERATE 707C>A Ala236Glu
M0039336 ALCMGEHG_00061 68253 4 Skin 0.02 protein_coding synonymous_variant LOW 705G>T Leu235Leu
M0039337 ALCMGEHG_00061 68349 5 Skin 0.02 protein_coding synonymous_variant LOW 609A>G Glu203Glu
M0039338 ALCMGEHG_00061 68427 6 Skin 0.02 protein_coding synonymous_variant LOW 531C>T Pro177Pro
M0039339 ALCMGEHG_00061 68499 8 Skin 0.03 protein_coding synonymous_variant LOW 459C>T Ile153Ile
M0039340 ALCMGEHG_00061 68541 6 Skin 0.02 protein_coding synonymous_variant LOW 417C>G Thr139Thr
M0039341 ALCMGEHG_00061 68544 7 Skin 0.03 protein_coding synonymous_variant LOW 414C>G Thr138Thr
M0039342 ALCMGEHG_00061 68547 6 Skin 0.02 protein_coding synonymous_variant LOW 411G>C Val137Val
M0039343 ALCMGEHG_00061 68559 3 Skin 0.01 protein_coding synonymous_variant LOW 399G>A Val133Val
M0039344 ALCMGEHG_00061 68562 7 Skin 0.03 protein_coding synonymous_variant LOW 396G>C Arg132Arg
M0039345 ALCMGEHG_00061 68685 5 Skin 0.02 protein_coding synonymous_variant LOW 273G>C Pro91Pro
M0039346 ALCMGEHG_00061 68705 12 Skin 0.05 protein_coding synonymous_variant LOW 253A>C Arg85Arg
M0039347 ALCMGEHG_00061 68706 12 Skin 0.05 protein_coding synonymous_variant LOW 252T>C Asp84Asp
M0039348 ALCMGEHG_00061 68742 9 Skin 0.04 protein_coding synonymous_variant LOW 216C>T Arg72Arg
M0039349 ALCMGEHG_00061 68766 9 Skin 0.04 protein_coding synonymous_variant LOW 192G>A Gly64Gly
M0039350 ALCMGEHG_00061 68927 3 Skin 0.01 protein_coding missense_variant MODERATE 31G>A Ala11Thr
M0039351 ALCMGEHG_00059 69018 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -3251C>T None
M0039352 ALCMGEHG_00059 69027 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3260T>C None
M0039353 ALCMGEHG_00059 69045 8 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3278A>G None
M0039354 ALCMGEHG_00059 69048 8 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3281T>C None
M0039355 ALCMGEHG_00059 69093 8 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3326T>C None
M0039356 ALCMGEHG_00059 69116 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -3349G>A None
M0039357 ALCMGEHG_00059 69119 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -3352G>C None
M0039358 ALCMGEHG_00059 69126 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -3359A>G None
M0039359 ALCMGEHG_00077 88432 3 Skin 0.01 protein_coding synonymous_variant LOW 399A>G Thr133Thr
M0039360 ALCMGEHG_00078 88467 3 Skin 0.01 protein_coding synonymous_variant LOW 9G>A Gln3Gln
M0039361 ALCMGEHG_00078 88468 3 Skin 0.01 protein_coding missense_variant MODERATE 10C>T Pro4Ser
M0039362 ALCMGEHG_00078 88471 3 Skin 0.01 protein_coding missense_variant MODERATE 13C>A His5Asn
M0039363 ALCMGEHG_00078 88482 3 Skin 0.01 protein_coding synonymous_variant LOW 24T>C Ala8Ala
M0039364 ALCMGEHG_00078 88485 3 Skin 0.01 protein_coding synonymous_variant LOW 27A>G Pro9Pro
M0039365 ALCMGEHG_00078 88528 3 Skin 0.01 protein_coding missense_variant MODERATE 70C>T His24Tyr
M0039366 ALCMGEHG_00078 88543 3 Skin 0.01 protein_coding missense_variant MODERATE 85G>A Ala29Thr
M0039367 ALCMGEHG_00060 66616 4 Skin 0.02 protein_coding synonymous_variant LOW 825T>C Ile275Ile
M0039368 ALCMGEHG_00060 66652 4 Skin 0.02 protein_coding synonymous_variant LOW 789T>C Thr263Thr
M0039369 ALCMGEHG_00060 66676 4 Skin 0.02 protein_coding synonymous_variant LOW 765T>C Pro255Pro
M0039370 ALCMGEHG_00060 66703 4 Skin 0.02 protein_coding synonymous_variant LOW 738T>C Ala246Ala
M0039371 ALCMGEHG_00060 66718 5 Skin 0.02 protein_coding synonymous_variant LOW 723G>C Gly241Gly
M0039372 ALCMGEHG_00060 66763 3 Skin 0.01 protein_coding synonymous_variant LOW 678C>G Ala226Ala
M0039373 ALCMGEHG_00060 66784 3 Skin 0.01 protein_coding synonymous_variant LOW 657C>T Phe219Phe
M0039374 ALCMGEHG_00033 35012 3 Skin 0.01 protein_coding synonymous_variant LOW 573C>G Val191Val
M0039375 ALCMGEHG_00048 50342 4 Skin 0.02 protein_coding missense_variant MODERATE 863G>A Gly288Glu
M0039376 ALCMGEHG_00049 51226 4 Skin 0.02 protein_coding missense_variant MODERATE 309C>G Asp103Glu
M0039377 ALCMGEHG_00049 51247 4 Skin 0.02 protein_coding synonymous_variant LOW 330C>T Gly110Gly
M0039378 ALCMGEHG_00049 51421 7 Skin 0.03 protein_coding synonymous_variant LOW 504T>C Ala168Ala
M0039379 ALCMGEHG_00049 51454 4 Skin 0.02 protein_coding synonymous_variant LOW 537G>A Glu179Glu
M0039380 ALCMGEHG_00049 51463 4 Skin 0.02 protein_coding synonymous_variant LOW 546G>A Ala182Ala
M0039381 ALCMGEHG_00049 51477 4 Skin 0.02 protein_coding missense_variant MODERATE 560G>A Arg187His
M0039382 ALCMGEHG_00049 51493 3 Skin 0.01 protein_coding synonymous_variant LOW 576G>A Pro192Pro
M0039383 ALCMGEHG_00049 51496 3 Skin 0.01 protein_coding synonymous_variant LOW 579G>A Gly193Gly
M0039384 ALCMGEHG_00049 51497 3 Skin 0.01 protein_coding missense_variant MODERATE 580G>A Val194Ile
M0039385 ALCMGEHG_00049 51498 3 Skin 0.01 protein_coding missense_variant MODERATE 581T>C Val194Ala
M0039386 ALCMGEHG_00049 51500 3 Skin 0.01 protein_coding missense_variant MODERATE 583A>G Met195Val
M0039387 ALCMGEHG_00049 51502 4 Skin 0.02 protein_coding missense_variant MODERATE 585G>T Met195Ile
M0039388 ALCMGEHG_00049 51524 4 Skin 0.02 protein_coding missense_variant MODERATE 607C>T His203Tyr
M0039389 ALCMGEHG_00049 51625 4 Skin 0.02 protein_coding synonymous_variant LOW 708C>T Ala236Ala
M0039390 ALCMGEHG_00049 51741 7 Skin 0.03 protein_coding missense_variant MODERATE 824T>C Phe275Ser
M0039391 ALCMGEHG_00049 51781 7 Skin 0.03 protein_coding synonymous_variant LOW 864A>G Glu288Glu
M0039392 ALCMGEHG_00049 51787 6 Skin 0.02 protein_coding synonymous_variant LOW 870G>A Ala290Ala
M0039393 ALCMGEHG_00051 53756 8 Skin 0.03 protein_coding missense_variant MODERATE 580G>C Ala194Pro
M0039394 ALCMGEHG_00051 53771 5 Skin 0.02 protein_coding missense_variant MODERATE 565G>A Ala189Thr
M0039395 ALCMGEHG_00051 53826 8 Skin 0.03 protein_coding synonymous_variant LOW 510T>C Ser170Ser
M0039396 ALCMGEHG_00051 53844 8 Skin 0.03 protein_coding synonymous_variant LOW 492C>T Gly164Gly
M0039397 ALCMGEHG_00051 53847 6 Skin 0.02 protein_coding synonymous_variant LOW 489G>C Pro163Pro
M0039398 ALCMGEHG_00051 53871 8 Skin 0.03 protein_coding synonymous_variant LOW 465C>T Val155Val
M0039399 ALCMGEHG_00051 53876 8 Skin 0.03 protein_coding missense_variant MODERATE 460A>C Ile154Leu
M0039400 ALCMGEHG_00051 53922 8 Skin 0.03 protein_coding synonymous_variant LOW 414C>G Ala138Ala
M0039401 ALCMGEHG_00051 53925 8 Skin 0.03 protein_coding synonymous_variant LOW 411T>C Pro137Pro
M0039402 ALCMGEHG_00051 53938 8 Skin 0.03 protein_coding missense_variant MODERATE 398A>T Asn133Ile
M0039403 ALCMGEHG_00051 53939 8 Skin 0.03 protein_coding missense_variant MODERATE 397A>G Asn133Asp
M0039404 ALCMGEHG_00051 53946 8 Skin 0.03 protein_coding synonymous_variant LOW 390C>G Gly130Gly
M0039405 ALCMGEHG_00051 53954 8 Skin 0.03 protein_coding missense_variant MODERATE 382G>A Glu128Lys
M0039406 ALCMGEHG_00051 53958 7 Skin 0.03 protein_coding synonymous_variant LOW 378G>T Gly126Gly
M0039407 ALCMGEHG_00051 53964 7 Skin 0.03 protein_coding synonymous_variant LOW 372C>T Gly124Gly
M0039408 ALCMGEHG_00079 89697 3 Skin 0.01 protein_coding missense_variant MODERATE 19G>A Asp7Asn
M0039409 ALCMGEHG_00079 89726 4 Skin 0.02 protein_coding synonymous_variant LOW 48C>G Val16Val
M0039410 ALCMGEHG_00043 45174 3 Skin 0.01 protein_coding missense_variant MODERATE 320C>A Thr107Asn
M0039411 ALCMGEHG_00043 45209 3 Skin 0.01 protein_coding synonymous_variant LOW 285T>C Phe95Phe
M0039412 ALCMGEHG_00081 91478 5 Skin 0.02 protein_coding missense_variant MODERATE 85A>G Met29Val
M0039413 ALCMGEHG_00081 91567 4 Skin 0.02 protein_coding synonymous_variant LOW 174T>C Phe58Phe
M0039414 ALCMGEHG_00081 91606 3 Skin 0.01 protein_coding synonymous_variant LOW 213A>G Glu71Glu
M0039415 ALCMGEHG_00081 91711 4 Skin 0.02 protein_coding synonymous_variant LOW 318T>C Gly106Gly
M0039416 ALCMGEHG_00081 91728 4 Skin 0.02 protein_coding missense_variant MODERATE 335T>C Val112Ala
M0039417 ALCMGEHG_00081 91798 3 Skin 0.01 protein_coding synonymous_variant LOW 405C>G Ala135Ala
M0039418 ALCMGEHG_00081 92209 3 Skin 0.01 protein_coding synonymous_variant LOW 816C>T Ser272Ser
M0039419 ALCMGEHG_00081 92335 3 Skin 0.01 protein_coding synonymous_variant LOW 942C>T Asn314Asn
M0039420 ALCMGEHG_00081 92357 5 Skin 0.02 protein_coding synonymous_variant LOW 964T>C Leu322Leu
M0039421 ALCMGEHG_00081 92389 4 Skin 0.02 protein_coding synonymous_variant LOW 996T>C Asp332Asp
M0039422 ALCMGEHG_00081 92638 4 Skin 0.02 protein_coding synonymous_variant LOW 1245C>G Ala415Ala
M0039423 ALCMGEHG_00081 92641 4 Skin 0.02 protein_coding synonymous_variant LOW 1248C>T Ile416Ile
M0039424 ALCMGEHG_00081 92656 3 Skin 0.01 protein_coding synonymous_variant LOW 1263A>G Glu421Glu
M0039425 ALCMGEHG_00081 92682 5 Skin 0.02 protein_coding splice_region_variant&stop_retained_variant LOW 1289G>A Ter430Ter
M0039426 ALCMGEHG_00083 92685 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -1080A>C None
M0039427 ALCMGEHG_00082 92816 5 Skin 0.02 protein_coding synonymous_variant LOW 909G>C Pro303Pro
M0039428 ALCMGEHG_00082 92822 5 Skin 0.02 protein_coding synonymous_variant LOW 903T>C Leu301Leu
M0039429 ALCMGEHG_00082 92834 5 Skin 0.02 protein_coding synonymous_variant LOW 891T>C Pro297Pro
M0039430 ALCMGEHG_00082 92836 5 Skin 0.02 protein_coding missense_variant MODERATE 889C>T Pro297Ser
M0039431 ALCMGEHG_00082 92837 5 Skin 0.02 protein_coding synonymous_variant LOW 888G>C Leu296Leu
M0039432 ALCMGEHG_00082 92843 5 Skin 0.02 protein_coding synonymous_variant LOW 882T>C Ala294Ala
M0039433 ALCMGEHG_00082 92915 5 Skin 0.02 protein_coding synonymous_variant LOW 810T>G Ala270Ala
M0039434 ALCMGEHG_00082 93260 4 Skin 0.02 protein_coding synonymous_variant LOW 465T>C Tyr155Tyr
M0039435 ALCMGEHG_00082 93266 4 Skin 0.02 protein_coding synonymous_variant LOW 459A>G Lys153Lys
M0039436 ALCMGEHG_00083 94751 5 Skin 0.02 protein_coding synonymous_variant LOW 987C>T Gly329Gly
M0039437 ALCMGEHG_00082 94766 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -1042A>G None
M0039438 ALCMGEHG_00084 95409 7 Skin 0.03 protein_coding missense_variant MODERATE 386G>A Arg129Lys
M0039439 ALCMGEHG_00084 95413 7 Skin 0.03 protein_coding synonymous_variant LOW 390A>G Lys130Lys
M0039440 ALCMGEHG_00084 95418 7 Skin 0.03 protein_coding missense_variant MODERATE 395G>C Arg132Pro
M0039441 ALCMGEHG_00084 95425 7 Skin 0.03 protein_coding synonymous_variant LOW 402G>A Gln134Gln
M0039442 ALCMGEHG_00084 95431 7 Skin 0.03 protein_coding synonymous_variant LOW 408C>G Val136Val
M0039443 ALCMGEHG_00084 95437 7 Skin 0.03 protein_coding synonymous_variant LOW 414A>G Glu138Glu
M0039444 ALCMGEHG_00084 95444 7 Skin 0.03 protein_coding missense_variant MODERATE 421A>G Ser141Gly
M0039445 ALCMGEHG_00084 95445 7 Skin 0.03 protein_coding missense_variant MODERATE 422G>C Ser141Thr
M0039446 ALCMGEHG_00084 95491 7 Skin 0.03 protein_coding synonymous_variant LOW 468T>G Ala156Ala
M0039447 ALCMGEHG_00084 95668 10 Skin 0.04 protein_coding synonymous_variant LOW 645C>T Arg215Arg
M0039448 ALCMGEHG_00084 95674 10 Skin 0.04 protein_coding synonymous_variant LOW 651A>G Glu217Glu
M0039449 ALCMGEHG_00084 95686 8 Skin 0.03 protein_coding synonymous_variant LOW 663A>G Glu221Glu
M0039450 ALCMGEHG_00084 95689 8 Skin 0.03 protein_coding synonymous_variant LOW 666C>T Ala222Ala
M0039451 ALCMGEHG_00024 26695 3 Skin 0.01 protein_coding synonymous_variant LOW 723C>T Gly241Gly
M0039452 ALCMGEHG_00024 26789 5 Skin 0.02 protein_coding missense_variant MODERATE 817G>C Val273Leu
M0039453 ALCMGEHG_00024 26792 5 Skin 0.02 protein_coding synonymous_variant LOW 820T>C Leu274Leu
M0039454 ALCMGEHG_00024 26796 5 Skin 0.02 protein_coding missense_variant MODERATE 824T>A Val275Asp
M0039455 ALCMGEHG_00024 26797 5 Skin 0.02 protein_coding synonymous_variant LOW 825T>C Val275Val
M0039456 ALCMGEHG_00024 26798 5 Skin 0.02 protein_coding missense_variant MODERATE 826A>G Thr276Ala
M0039457 ALCMGEHG_00024 26800 4 Skin 0.02 protein_coding synonymous_variant LOW 828G>A Thr276Thr
M0039458 ALCMGEHG_00024 26823 4 Skin 0.02 protein_coding missense_variant MODERATE 851T>C Met284Thr
M0039459 ALCMGEHG_00024 26836 4 Skin 0.02 protein_coding synonymous_variant LOW 864C>T Gly288Gly
M0039460 ALCMGEHG_00024 26951 3 Skin 0.01 protein_coding missense_variant MODERATE 979A>G Thr327Ala
M0039461 ALCMGEHG_00024 26959 3 Skin 0.01 protein_coding synonymous_variant LOW 987T>G Leu329Leu
M0039462 ALCMGEHG_00024 26964 3 Skin 0.01 protein_coding missense_variant MODERATE 992A>G Gln331Arg
M0039463 ALCMGEHG_00024 26968 3 Skin 0.01 protein_coding synonymous_variant LOW 996G>C Gly332Gly
M0039464 ALCMGEHG_00024 27243 3 Skin 0.01 protein_coding missense_variant MODERATE 1271C>T Ala424Val
M0039465 ALCMGEHG_00025 27306 3 Skin 0.01 protein_coding synonymous_variant LOW 759C>T His253His
M0039466 ALCMGEHG_00025 27495 3 Skin 0.01 protein_coding synonymous_variant LOW 570T>G Ala190Ala
M0039467 ALCMGEHG_00025 27498 3 Skin 0.01 protein_coding synonymous_variant LOW 567C>G Gly189Gly
M0039468 ALCMGEHG_00025 27501 3 Skin 0.01 protein_coding synonymous_variant LOW 564A>G Val188Val
M0039469 ALCMGEHG_00025 27507 3 Skin 0.01 protein_coding synonymous_variant LOW 558C>T Arg186Arg
M0039470 ALCMGEHG_00025 27561 7 Skin 0.03 protein_coding synonymous_variant LOW 504T>C Asn168Asn
M0039471 ALCMGEHG_00025 27600 3 Skin 0.01 protein_coding synonymous_variant LOW 465C>G Thr155Thr
M0039472 ALCMGEHG_00025 27849 4 Skin 0.02 protein_coding synonymous_variant LOW 216C>G Ser72Ser
M0039473 ALCMGEHG_00025 27867 3 Skin 0.01 protein_coding synonymous_variant LOW 198G>A Ser66Ser
M0039474 ALCMGEHG_00025 27876 3 Skin 0.01 protein_coding synonymous_variant LOW 189T>C Gly63Gly
M0039475 ALCMGEHG_00025 27903 3 Skin 0.01 protein_coding synonymous_variant LOW 162A>G Gly54Gly
M0039476 ALCMGEHG_00025 27906 3 Skin 0.01 protein_coding synonymous_variant LOW 159G>C Leu53Leu
M0039477 ALCMGEHG_00025 27909 3 Skin 0.01 protein_coding synonymous_variant LOW 156G>A Ser52Ser
M0039478 ALCMGEHG_00025 27921 3 Skin 0.01 protein_coding missense_variant MODERATE 144C>G Ser48Arg
M0039479 ALCMGEHG_00025 27923 3 Skin 0.01 protein_coding missense_variant MODERATE 142A>G Ser48Gly
M0039480 ALCMGEHG_00025 27924 3 Skin 0.01 protein_coding synonymous_variant LOW 141C>A Val47Val
M0039481 ALCMGEHG_00025 27979 4 Skin 0.02 protein_coding missense_variant MODERATE 86A>G Lys29Arg
M0039482 ALCMGEHG_00025 27980 4 Skin 0.02 protein_coding missense_variant MODERATE 85A>C Lys29Gln
M0039483 ALCMGEHG_00025 27981 4 Skin 0.02 protein_coding missense_variant MODERATE 84C>G Ser28Arg
M0039484 ALCMGEHG_00025 27982 4 Skin 0.02 protein_coding missense_variant MODERATE 83G>C Ser28Thr
M0039485 ALCMGEHG_00025 27983 4 Skin 0.02 protein_coding missense_variant MODERATE 82A>T Ser28Cys
M0039486 ALCMGEHG_00025 27984 4 Skin 0.02 protein_coding synonymous_variant LOW 81C>T Leu27Leu
M0039487 ALCMGEHG_00025 28047 3 Skin 0.01 protein_coding synonymous_variant LOW 18A>G Gln6Gln
M0039488 ALCMGEHG_00026 28098 3 Skin 0.01 protein_coding missense_variant MODERATE 347C>G Pro116Arg
M0039489 ALCMGEHG_00026 28099 3 Skin 0.01 protein_coding missense_variant MODERATE 346C>T Pro116Ser
M0039490 ALCMGEHG_00026 28298 6 Skin 0.02 protein_coding synonymous_variant LOW 147T>C Cys49Cys
M0039491 ALCMGEHG_00026 28343 4 Skin 0.02 protein_coding synonymous_variant LOW 102C>T Ala34Ala
M0039492 ALCMGEHG_00026 28380 3 Skin 0.01 protein_coding missense_variant MODERATE 65G>A Gly22Glu
M0039493 ALCMGEHG_00026 28395 4 Skin 0.02 protein_coding missense_variant MODERATE 50C>T Ala17Val
M0039494 ALCMGEHG_00026 28412 3 Skin 0.01 protein_coding synonymous_variant LOW 33T>C Ala11Ala
M0039495 ALCMGEHG_00027 28605 4 Skin 0.02 protein_coding missense_variant MODERATE 223C>G Gln75Glu
M0039496 ALCMGEHG_00009 7676 3 Skin 0.01 protein_coding missense_variant MODERATE 931G>A Val311Ile
M0039497 ALCMGEHG_00009 7963 6 Skin 0.02 protein_coding missense_variant MODERATE 644C>A Ala215Glu
M0039498 ALCMGEHG_00009 7965 6 Skin 0.02 protein_coding synonymous_variant LOW 642C>T Asp214Asp
M0039499 ALCMGEHG_00009 8001 7 Skin 0.03 protein_coding missense_variant MODERATE 606A>C Glu202Asp
M0039500 ALCMGEHG_00009 8019 6 Skin 0.02 protein_coding synonymous_variant LOW 588G>A Gln196Gln
M0039501 ALCMGEHG_00009 8028 6 Skin 0.02 protein_coding synonymous_variant LOW 579C>T Ser193Ser
M0039502 ALCMGEHG_00009 8033 6 Skin 0.02 protein_coding synonymous_variant LOW 574T>C Leu192Leu
M0039503 ALCMGEHG_00061 68505 7 Skin 0.03 protein_coding synonymous_variant LOW 453T>G Ser151Ser
M0039504 ALCMGEHG_00061 68904 6 Skin 0.02 protein_coding synonymous_variant LOW 54G>A Pro18Pro
M0039505 ALCMGEHG_00061 68907 6 Skin 0.02 protein_coding synonymous_variant LOW 51G>T Leu17Leu
M0039506 ALCMGEHG_00061 68946 9 Skin 0.04 protein_coding synonymous_variant LOW 12T>C Pro4Pro
M0039507 ALCMGEHG_00059 69006 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3239T>C None
M0039508 ALCMGEHG_00059 69007 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3240T>C None
M0039509 ALCMGEHG_00059 69012 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3245C>T None
M0039510 ALCMGEHG_00059 69073 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3306C>T None
M0039511 ALCMGEHG_00059 69074 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3307C>T None
M0039512 ALCMGEHG_00059 69081 7 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3314A>G None
M0039513 ALCMGEHG_00059 69136 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -3369T>C None
M0039514 ALCMGEHG_00059 69148 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -3381T>G None
M0039515 ALCMGEHG_00059 69153 10 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -3386T>C None
M0039516 ALCMGEHG_00059 69162 9 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -3395A>G None
M0039517 ALCMGEHG_00059 69165 10 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -3398A>C None
M0039518 ALCMGEHG_00062 69396 8 Skin 0.03 protein_coding synonymous_variant LOW 213T>C Pro71Pro
M0039519 ALCMGEHG_00062 69413 8 Skin 0.03 protein_coding missense_variant MODERATE 230T>C Val77Ala
M0039520 ALCMGEHG_00062 69417 8 Skin 0.03 protein_coding synonymous_variant LOW 234A>G Gly78Gly
M0039521 ALCMGEHG_00062 69420 8 Skin 0.03 protein_coding synonymous_variant LOW 237A>G Glu79Glu
M0039522 ALCMGEHG_00062 69422 8 Skin 0.03 protein_coding missense_variant MODERATE 239C>T Thr80Met
M0039523 ALCMGEHG_00062 69423 8 Skin 0.03 protein_coding synonymous_variant LOW 240G>A Thr80Thr
M0039524 ALCMGEHG_00062 69438 5 Skin 0.02 protein_coding synonymous_variant LOW 255A>G Gln85Gln
M0039525 ALCMGEHG_00062 69441 5 Skin 0.02 protein_coding synonymous_variant LOW 258C>T Tyr86Tyr
M0039526 ALCMGEHG_00062 69442 8 Skin 0.03 protein_coding synonymous_variant LOW 259T>C Leu87Leu
M0039527 ALCMGEHG_00062 69517 9 Skin 0.04 protein_coding missense_variant MODERATE 334A>G Thr112Ala
M0039528 ALCMGEHG_00062 69588 8 Skin 0.03 protein_coding synonymous_variant LOW 405T>C Ile135Ile
M0039529 ALCMGEHG_00062 69591 8 Skin 0.03 protein_coding synonymous_variant LOW 408T>C Pro136Pro
M0039530 ALCMGEHG_00062 69738 3 Skin 0.01 protein_coding synonymous_variant LOW 555A>G Gly185Gly
M0039531 ALCMGEHG_00062 69741 3 Skin 0.01 protein_coding synonymous_variant LOW 558T>C His186His
M0039532 ALCMGEHG_00062 69744 3 Skin 0.01 protein_coding synonymous_variant LOW 561C>G Leu187Leu
M0039533 ALCMGEHG_00062 69939 8 Skin 0.03 protein_coding synonymous_variant LOW 756C>A Gly252Gly
M0039534 ALCMGEHG_00003 2756 5 Skin 0.02 protein_coding synonymous_variant LOW 459T>C Tyr153Tyr
M0039535 ALCMGEHG_00003 2780 6 Skin 0.02 protein_coding synonymous_variant LOW 435C>A Ile145Ile
M0039536 ALCMGEHG_00060 66043 3 Skin 0.01 protein_coding synonymous_variant LOW 1398C>T Asp466Asp
M0039537 ALCMGEHG_00001 1043 4 Skin 0.02 protein_coding synonymous_variant LOW 636T>C Leu212Leu
M0039538 ALCMGEHG_00001 1049 4 Skin 0.02 protein_coding synonymous_variant LOW 642C>T Pro214Pro
M0039539 ALCMGEHG_00001 1317 3 Skin 0.01 protein_coding missense_variant MODERATE 910T>C Ser304Pro
M0039540 ALCMGEHG_00002 1978 3 Skin 0.01 protein_coding synonymous_variant LOW 468A>C Pro156Pro
M0039541 ALCMGEHG_00002 1979 3 Skin 0.01 protein_coding missense_variant MODERATE 469C>G Gln157Glu
M0039542 ALCMGEHG_00002 1981 3 Skin 0.01 protein_coding synonymous_variant LOW 471G>A Gln157Gln
M0039543 ALCMGEHG_00002 1984 3 Skin 0.01 protein_coding synonymous_variant LOW 474G>A Gln158Gln
M0039544 ALCMGEHG_00087 99583 7 Skin 0.03 protein_coding synonymous_variant LOW 346C>T Leu116Leu
M0039545 ALCMGEHG_00088 100238 3 Skin 0.01 protein_coding synonymous_variant LOW 183G>A Glu61Glu
M0039546 ALCMGEHG_00025 28891 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -827C>T None
M0039547 ALCMGEHG_00028 28975 3 Skin 0.01 protein_coding synonymous_variant LOW 711G>A Leu237Leu
M0039548 ALCMGEHG_00028 29077 3 Skin 0.01 protein_coding synonymous_variant LOW 609T>G Arg203Arg
M0039549 ALCMGEHG_00028 29518 3 Skin 0.01 protein_coding synonymous_variant LOW 168T>C Asp56Asp
M0039550 ALCMGEHG_00028 29542 3 Skin 0.01 protein_coding synonymous_variant LOW 144C>T Ile48Ile
M0039551 ALCMGEHG_00028 29545 3 Skin 0.01 protein_coding synonymous_variant LOW 141C>G Val47Val
M0039552 ALCMGEHG_00028 29548 3 Skin 0.01 protein_coding synonymous_variant LOW 138A>G Lys46Lys
M0039553 ALCMGEHG_00028 29572 3 Skin 0.01 protein_coding synonymous_variant LOW 114C>T Phe38Phe
M0039554 ALCMGEHG_00028 29622 3 Skin 0.01 protein_coding synonymous_variant LOW 64T>C Leu22Leu
M0039555 ALCMGEHG_00029 29750 3 Skin 0.01 protein_coding missense_variant MODERATE 977A>G Asn326Ser
M0039556 ALCMGEHG_00029 29854 3 Skin 0.01 protein_coding synonymous_variant LOW 873T>C Ala291Ala
M0039557 ALCMGEHG_00029 29881 3 Skin 0.01 protein_coding synonymous_variant LOW 846T>C Pro282Pro
M0039558 ALCMGEHG_00029 29907 3 Skin 0.01 protein_coding missense_variant MODERATE 820G>C Glu274Gln
M0039559 ALCMGEHG_00029 29911 3 Skin 0.01 protein_coding synonymous_variant LOW 816C>T Leu272Leu
M0039560 ALCMGEHG_00029 29939 3 Skin 0.01 protein_coding missense_variant MODERATE 788A>G Glu263Gly
M0039561 ALCMGEHG_00029 29990 3 Skin 0.01 protein_coding missense_variant MODERATE 737C>G Ala246Gly
M0039562 ALCMGEHG_00029 30067 3 Skin 0.01 protein_coding synonymous_variant LOW 660G>A Ala220Ala
M0039563 ALCMGEHG_00029 30085 3 Skin 0.01 protein_coding synonymous_variant LOW 642C>T Ala214Ala
M0039564 ALCMGEHG_00029 30169 3 Skin 0.01 protein_coding synonymous_variant LOW 558G>A Glu186Glu
M0039565 ALCMGEHG_00029 30334 3 Skin 0.01 protein_coding synonymous_variant LOW 393C>G Thr131Thr
M0039566 ALCMGEHG_00029 30337 3 Skin 0.01 protein_coding synonymous_variant LOW 390G>C Arg130Arg
M0039567 ALCMGEHG_00029 30349 4 Skin 0.02 protein_coding synonymous_variant LOW 378G>C Ala126Ala
M0039568 ALCMGEHG_00029 30358 3 Skin 0.01 protein_coding synonymous_variant LOW 369T>C Arg123Arg
M0039569 ALCMGEHG_00029 30360 3 Skin 0.01 protein_coding missense_variant MODERATE 367C>G Arg123Gly
M0039570 ALCMGEHG_00029 30361 3 Skin 0.01 protein_coding synonymous_variant LOW 366C>T His122His
M0039571 ALCMGEHG_00029 30375 3 Skin 0.01 protein_coding missense_variant MODERATE 352T>A Leu118Met
M0039572 ALCMGEHG_00029 30382 4 Skin 0.02 protein_coding synonymous_variant LOW 345T>C Ser115Ser
M0039573 ALCMGEHG_00029 30592 4 Skin 0.02 protein_coding synonymous_variant LOW 135T>C Thr45Thr
M0039574 ALCMGEHG_00029 30593 4 Skin 0.02 protein_coding missense_variant MODERATE 134C>A Thr45Asn
M0039575 ALCMGEHG_00029 30644 3 Skin 0.01 protein_coding missense_variant MODERATE 83T>C Met28Thr
M0039576 ALCMGEHG_00029 30646 3 Skin 0.01 protein_coding synonymous_variant LOW 81C>A Gly27Gly
M0039577 ALCMGEHG_00029 30650 3 Skin 0.01 protein_coding missense_variant MODERATE 77C>T Pro26Leu
M0039578 ALCMGEHG_00029 30651 3 Skin 0.01 protein_coding missense_variant MODERATE 76C>A Pro26Thr
M0039579 ALCMGEHG_00029 30681 3 Skin 0.01 protein_coding missense_variant MODERATE 46C>T Arg16Cys
M0039580 ALCMGEHG_00029 30682 3 Skin 0.01 protein_coding stop_gained HIGH 45T>A Tyr15*
M0039581 ALCMGEHG_00029 30683 3 Skin 0.01 protein_coding missense_variant MODERATE 44A>C Tyr15Ser
M0039582 ALCMGEHG_00029 30684 3 Skin 0.01 protein_coding missense_variant MODERATE 43T>G Tyr15Asp
M0039583 ALCMGEHG_00030 30997 4 Skin 0.02 protein_coding synonymous_variant LOW 753C>T Arg251Arg
M0039584 ALCMGEHG_00030 31006 3 Skin 0.01 protein_coding synonymous_variant LOW 744C>G Leu248Leu
M0039585 ALCMGEHG_00030 31072 3 Skin 0.01 protein_coding synonymous_variant LOW 678G>C Gly226Gly
M0039586 ALCMGEHG_00030 31093 3 Skin 0.01 protein_coding synonymous_variant LOW 657A>G Lys219Lys
M0039587 ALCMGEHG_00030 31111 3 Skin 0.01 protein_coding synonymous_variant LOW 639C>T Asp213Asp
M0039588 ALCMGEHG_00030 31144 3 Skin 0.01 protein_coding synonymous_variant LOW 606C>T Pro202Pro
M0039589 ALCMGEHG_00030 31171 3 Skin 0.01 protein_coding synonymous_variant LOW 579C>T Asp193Asp
M0039590 ALCMGEHG_00030 31237 3 Skin 0.01 protein_coding synonymous_variant LOW 513G>A Glu171Glu
M0039591 ALCMGEHG_00030 31249 3 Skin 0.01 protein_coding synonymous_variant LOW 501C>T Phe167Phe
M0039592 ALCMGEHG_00030 31318 3 Skin 0.01 protein_coding synonymous_variant LOW 432A>G Val144Val
M0039593 ALCMGEHG_00030 31342 3 Skin 0.01 protein_coding synonymous_variant LOW 408C>T His136His
M0039594 ALCMGEHG_00030 31383 3 Skin 0.01 protein_coding missense_variant MODERATE 367G>A Val123Ile
M0039595 ALCMGEHG_00030 31402 3 Skin 0.01 protein_coding synonymous_variant LOW 348G>C Pro116Pro
M0039596 ALCMGEHG_00009 7374 8 Skin 0.03 protein_coding missense_variant MODERATE 1233G>C Gln411His
M0039597 ALCMGEHG_00009 7383 7 Skin 0.03 protein_coding synonymous_variant LOW 1224A>G Glu408Glu
M0039598 ALCMGEHG_00009 7395 8 Skin 0.03 protein_coding synonymous_variant LOW 1212G>C Thr404Thr
M0039599 ALCMGEHG_00009 7554 4 Skin 0.02 protein_coding synonymous_variant LOW 1053C>T Tyr351Tyr
M0039600 ALCMGEHG_00009 7560 4 Skin 0.02 protein_coding synonymous_variant LOW 1047C>T Ile349Ile
M0039601 ALCMGEHG_00009 7581 5 Skin 0.02 protein_coding synonymous_variant LOW 1026A>G Val342Val
M0039602 ALCMGEHG_00009 7585 5 Skin 0.02 protein_coding missense_variant MODERATE 1022A>G Gln341Arg
M0039603 ALCMGEHG_00009 7587 5 Skin 0.02 protein_coding synonymous_variant LOW 1020G>C Gly340Gly
M0039604 ALCMGEHG_00010 8681 8 Skin 0.03 protein_coding missense_variant MODERATE 482C>T Ala161Val
M0039605 ALCMGEHG_00010 8700 8 Skin 0.03 protein_coding missense_variant MODERATE 463A>G Thr155Ala
M0039606 ALCMGEHG_00010 8707 8 Skin 0.03 protein_coding synonymous_variant LOW 456G>C Ala152Ala
M0039607 ALCMGEHG_00010 8710 8 Skin 0.03 protein_coding synonymous_variant LOW 453G>C Ala151Ala
M0039608 ALCMGEHG_00010 8713 8 Skin 0.03 protein_coding synonymous_variant LOW 450G>C Ala150Ala
M0039609 ALCMGEHG_00010 8714 8 Skin 0.03 protein_coding missense_variant MODERATE 449C>G Ala150Gly
M0039610 ALCMGEHG_00010 8715 8 Skin 0.03 protein_coding missense_variant MODERATE 448G>T Ala150Ser
M0039611 ALCMGEHG_00010 8716 8 Skin 0.03 protein_coding synonymous_variant LOW 447G>A Arg149Arg
M0039612 ALCMGEHG_00010 8718 8 Skin 0.03 protein_coding synonymous_variant LOW 445C>A Arg149Arg
M0039613 ALCMGEHG_00010 8764 10 Skin 0.04 protein_coding synonymous_variant LOW 399C>T Asn133Asn
M0039614 ALCMGEHG_00010 8805 3 Skin 0.01 protein_coding missense_variant MODERATE 358T>C Phe120Leu
M0039615 ALCMGEHG_00010 8826 10 Skin 0.04 protein_coding missense_variant MODERATE 337A>G Ser113Gly
M0039616 ALCMGEHG_00010 8828 10 Skin 0.04 protein_coding missense_variant MODERATE 335G>A Arg112Gln
M0039617 ALCMGEHG_00078 89421 4 Skin 0.02 protein_coding synonymous_variant LOW 963C>T Asn321Asn
M0039618 ALCMGEHG_00076 87169 3 Skin 0.01 protein_coding synonymous_variant LOW 366G>A Gln122Gln
M0039619 ALCMGEHG_00076 87278 3 Skin 0.01 protein_coding missense_variant MODERATE 475C>A His159Asn
M0039620 ALCMGEHG_00010 8877 7 Skin 0.03 protein_coding missense_variant MODERATE 286G>A Ala96Thr
M0039621 ALCMGEHG_00010 8879 8 Skin 0.03 protein_coding missense_variant MODERATE 284A>T Tyr95Phe
M0039622 ALCMGEHG_00010 8887 8 Skin 0.03 protein_coding synonymous_variant LOW 276T>C His92His
M0039623 ALCMGEHG_00010 8920 6 Skin 0.02 protein_coding synonymous_variant LOW 243T>C Asp81Asp
M0039624 ALCMGEHG_00010 9010 6 Skin 0.02 protein_coding synonymous_variant LOW 153T>C Ala51Ala
M0039625 ALCMGEHG_00011 9249 3 Skin 0.01 protein_coding synonymous_variant LOW 1320G>A Thr440Thr
M0039626 ALCMGEHG_00011 9252 3 Skin 0.01 protein_coding synonymous_variant LOW 1317C>T Pro439Pro
M0039627 ALCMGEHG_00011 9255 3 Skin 0.01 protein_coding synonymous_variant LOW 1314C>G Leu438Leu
M0039628 ALCMGEHG_00009 10925 6 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -2319C>T None
M0039629 ALCMGEHG_00009 10933 6 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -2327C>G None
M0039630 ALCMGEHG_00009 10946 6 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -2340T>C None
M0039631 ALCMGEHG_00009 10968 6 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -2362G>A None
M0039632 ALCMGEHG_00013 11031 7 Skin 0.03 protein_coding missense_variant MODERATE 256C>T Pro86Ser
M0039633 ALCMGEHG_00024 26893 3 Skin 0.01 protein_coding synonymous_variant LOW 921C>G Leu307Leu
M0039634 ALCMGEHG_00024 26894 3 Skin 0.01 protein_coding missense_variant MODERATE 922A>G Ser308Gly
M0039635 ALCMGEHG_00024 26902 3 Skin 0.01 protein_coding synonymous_variant LOW 930T>G Leu310Leu
M0039636 ALCMGEHG_00028 29278 3 Skin 0.01 protein_coding synonymous_variant LOW 408C>G Val136Val
M0039637 ALCMGEHG_00007 5340 6 Skin 0.02 protein_coding synonymous_variant LOW 411G>T Pro137Pro
M0039638 ALCMGEHG_00011 9185 4 Skin 0.02 protein_coding synonymous_variant LOW 1384C>T Leu462Leu
M0039639 ALCMGEHG_00011 9186 4 Skin 0.02 protein_coding synonymous_variant LOW 1383T>C Ser461Ser
M0039640 ALCMGEHG_00011 9288 4 Skin 0.02 protein_coding synonymous_variant LOW 1281G>C Ala427Ala
M0039641 ALCMGEHG_00011 9441 3 Skin 0.01 protein_coding synonymous_variant LOW 1128T>C Ser376Ser
M0039642 ALCMGEHG_00011 9442 3 Skin 0.01 protein_coding missense_variant MODERATE 1127G>C Ser376Thr
M0039643 ALCMGEHG_00011 9444 3 Skin 0.01 protein_coding missense_variant MODERATE 1125G>C Leu375Phe
M0039644 ALCMGEHG_00011 9473 3 Skin 0.01 protein_coding missense_variant MODERATE 1096C>T Pro366Ser
M0039645 ALCMGEHG_00011 9474 3 Skin 0.01 protein_coding synonymous_variant LOW 1095G>C Ala365Ala
M0039646 ALCMGEHG_00011 9486 3 Skin 0.01 protein_coding synonymous_variant LOW 1083C>T His361His
M0039647 ALCMGEHG_00011 9522 4 Skin 0.02 protein_coding synonymous_variant LOW 1047T>G Gly349Gly
M0039648 ALCMGEHG_00011 9525 4 Skin 0.02 protein_coding synonymous_variant LOW 1044T>C Gly348Gly
M0039649 ALCMGEHG_00011 9604 3 Skin 0.01 protein_coding missense_variant MODERATE 965C>T Ala322Val
M0039650 ALCMGEHG_00011 9704 4 Skin 0.02 protein_coding missense_variant MODERATE 865A>G Thr289Ala
M0039651 ALCMGEHG_00012 10601 3 Skin 0.01 protein_coding synonymous_variant LOW 177C>T Tyr59Tyr
M0039652 ALCMGEHG_00012 10679 4 Skin 0.02 protein_coding synonymous_variant LOW 99A>T Arg33Arg
M0039653 ALCMGEHG_00017 15610 4 Skin 0.02 protein_coding missense_variant MODERATE 418G>A Val140Met
M0039654 ALCMGEHG_00017 15656 3 Skin 0.01 protein_coding synonymous_variant LOW 372C>T Ser124Ser
M0039655 ALCMGEHG_00017 15665 3 Skin 0.01 protein_coding synonymous_variant LOW 363T>C Arg121Arg
M0039656 ALCMGEHG_00017 15932 3 Skin 0.01 protein_coding synonymous_variant LOW 96C>T Val32Val
M0039657 ALCMGEHG_00017 15935 3 Skin 0.01 protein_coding synonymous_variant LOW 93C>T Arg31Arg
M0039658 ALCMGEHG_00062 69486 6 Skin 0.02 protein_coding synonymous_variant LOW 303C>T Thr101Thr
M0039659 ALCMGEHG_00062 69489 6 Skin 0.02 protein_coding synonymous_variant LOW 306A>G Ala102Ala
M0039660 ALCMGEHG_00062 69648 9 Skin 0.04 protein_coding synonymous_variant LOW 465A>G Arg155Arg
M0039661 ALCMGEHG_00062 69681 6 Skin 0.02 protein_coding synonymous_variant LOW 498G>A Ala166Ala
M0039662 ALCMGEHG_00062 69683 5 Skin 0.02 protein_coding missense_variant MODERATE 500T>C Val167Ala
M0039663 ALCMGEHG_00065 75408 3 Skin 0.01 protein_coding synonymous_variant LOW 1473G>C Ser491Ser
M0039664 ALCMGEHG_00065 75561 4 Skin 0.02 protein_coding synonymous_variant LOW 1320T>C Gly440Gly
M0039665 ALCMGEHG_00065 75597 3 Skin 0.01 protein_coding synonymous_variant LOW 1284G>A Ser428Ser
M0039666 ALCMGEHG_00065 75627 5 Skin 0.02 protein_coding synonymous_variant LOW 1254T>C Tyr418Tyr
M0039667 ALCMGEHG_00068 81029 3 Skin 0.01 protein_coding synonymous_variant LOW 789T>C Gly263Gly
M0039668 ALCMGEHG_00068 81299 3 Skin 0.01 protein_coding synonymous_variant LOW 1059C>A Gly353Gly
M0039669 ALCMGEHG_00068 81307 3 Skin 0.01 protein_coding missense_variant MODERATE 1067G>A Arg356Lys
M0039670 ALCMGEHG_00068 81323 3 Skin 0.01 protein_coding synonymous_variant LOW 1083A>G Glu361Glu
M0039671 ALCMGEHG_00068 81341 3 Skin 0.01 protein_coding synonymous_variant LOW 1101G>C Ala367Ala
M0039672 ALCMGEHG_00068 81344 3 Skin 0.01 protein_coding synonymous_variant LOW 1104C>T Gly368Gly
M0039673 ALCMGEHG_00068 81418 3 Skin 0.01 protein_coding missense_variant MODERATE 1178G>A Gly393Asp
M0039674 ALCMGEHG_00069 81929 3 Skin 0.01 protein_coding missense_variant MODERATE 68T>C Val23Ala
M0039675 ALCMGEHG_00069 81954 3 Skin 0.01 protein_coding synonymous_variant LOW 93T>C Gly31Gly
M0039676 ALCMGEHG_00069 81984 3 Skin 0.01 protein_coding synonymous_variant LOW 123C>A Arg41Arg
M0039677 ALCMGEHG_00069 81990 3 Skin 0.01 protein_coding synonymous_variant LOW 129T>C Ser43Ser
M0039678 ALCMGEHG_00069 81996 3 Skin 0.01 protein_coding synonymous_variant LOW 135G>T Val45Val
M0039679 ALCMGEHG_00069 82002 3 Skin 0.01 protein_coding synonymous_variant LOW 141C>G Gly47Gly
M0039680 ALCMGEHG_00069 82005 3 Skin 0.01 protein_coding synonymous_variant LOW 144G>C Leu48Leu
M0039681 ALCMGEHG_00069 82008 3 Skin 0.01 protein_coding synonymous_variant LOW 147T>C Thr49Thr
M0039682 ALCMGEHG_00069 82011 3 Skin 0.01 protein_coding synonymous_variant LOW 150C>T Ala50Ala
M0039683 ALCMGEHG_00069 82015 3 Skin 0.01 protein_coding missense_variant MODERATE 154A>T Ser52Cys
M0039684 ALCMGEHG_00069 82016 3 Skin 0.01 protein_coding missense_variant MODERATE 155G>C Ser52Thr
M0039685 ALCMGEHG_00069 82032 3 Skin 0.01 protein_coding synonymous_variant LOW 171G>A Val57Val
M0039686 ALCMGEHG_00070 82678 3 Skin 0.01 protein_coding missense_variant MODERATE 122T>G Ile41Ser
M0039687 ALCMGEHG_00072 83705 3 Skin 0.01 protein_coding synonymous_variant LOW 456T>C Ala152Ala
M0039688 ALCMGEHG_00080 90699 3 Skin 0.01 protein_coding synonymous_variant LOW 477A>G Thr159Thr
M0039689 ALCMGEHG_00080 90700 3 Skin 0.01 protein_coding synonymous_variant LOW 478T>C Leu160Leu
M0039690 ALCMGEHG_00080 90729 3 Skin 0.01 protein_coding synonymous_variant LOW 507A>G Glu169Glu
M0039691 ALCMGEHG_00081 91372 4 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -22A>G None
M0039692 ALCMGEHG_00081 91414 4 Skin 0.02 protein_coding synonymous_variant LOW 21G>A Val7Val
M0039693 ALCMGEHG_00081 91417 4 Skin 0.02 protein_coding synonymous_variant LOW 24C>A Gly8Gly
M0039694 ALCMGEHG_00081 91656 3 Skin 0.01 protein_coding missense_variant MODERATE 263A>G Glu88Gly
M0039695 ALCMGEHG_00081 91657 3 Skin 0.01 protein_coding synonymous_variant LOW 264G>A Glu88Glu
M0039696 ALCMGEHG_00081 91842 3 Skin 0.01 protein_coding missense_variant MODERATE 449G>A Gly150Asp
M0039697 ALCMGEHG_00081 92053 3 Skin 0.01 protein_coding synonymous_variant LOW 660T>C Val220Val
M0039698 ALCMGEHG_00081 92059 3 Skin 0.01 protein_coding synonymous_variant LOW 666G>A Gly222Gly
M0039699 ALCMGEHG_00081 92083 4 Skin 0.02 protein_coding synonymous_variant LOW 690A>G Val230Val
M0039700 ALCMGEHG_00081 92086 3 Skin 0.01 protein_coding synonymous_variant LOW 693C>G Thr231Thr
M0039701 ALCMGEHG_00081 92095 3 Skin 0.01 protein_coding synonymous_variant LOW 702T>A Leu234Leu
M0039702 ALCMGEHG_00081 92105 4 Skin 0.02 protein_coding missense_variant MODERATE 712A>G Ser238Gly
M0039703 ALCMGEHG_00081 92119 3 Skin 0.01 protein_coding synonymous_variant LOW 726G>C Ala242Ala
M0039704 ALCMGEHG_00081 92122 3 Skin 0.01 protein_coding synonymous_variant LOW 729G>A Ala243Ala
M0039705 ALCMGEHG_00084 96019 3 Skin 0.01 protein_coding synonymous_variant LOW 996C>G Val332Val
M0039706 ALCMGEHG_00084 96022 3 Skin 0.01 protein_coding synonymous_variant LOW 999C>T Ile333Ile
M0039707 ALCMGEHG_00084 96079 3 Skin 0.01 protein_coding synonymous_variant LOW 1056A>G Glu352Glu
M0039708 ALCMGEHG_00084 96136 3 Skin 0.01 protein_coding synonymous_variant LOW 1113G>C Leu371Leu
M0039709 ALCMGEHG_00084 96433 11 Skin 0.04 protein_coding synonymous_variant LOW 1410C>T Thr470Thr
M0039710 ALCMGEHG_00084 96436 11 Skin 0.04 protein_coding synonymous_variant LOW 1413T>C Asp471Asp
M0039711 ALCMGEHG_00084 96439 11 Skin 0.04 protein_coding synonymous_variant LOW 1416C>T Phe472Phe
M0039712 ALCMGEHG_00084 96448 10 Skin 0.04 protein_coding synonymous_variant LOW 1425G>C Arg475Arg
M0039713 ALCMGEHG_00084 96451 10 Skin 0.04 protein_coding synonymous_variant LOW 1428G>C Ala476Ala
M0039714 ALCMGEHG_00084 96646 9 Skin 0.04 protein_coding synonymous_variant LOW 1623C>T Pro541Pro
M0039715 ALCMGEHG_00084 96664 9 Skin 0.04 protein_coding synonymous_variant LOW 1641T>C Ala547Ala
M0039716 ALCMGEHG_00084 96670 9 Skin 0.04 protein_coding synonymous_variant LOW 1647T>C Gly549Gly
M0039717 ALCMGEHG_00084 96680 4 Skin 0.02 protein_coding missense_variant MODERATE 1657A>G Ser553Gly
M0039718 ALCMGEHG_00084 96685 4 Skin 0.02 protein_coding synonymous_variant LOW 1662C>A Ala554Ala
M0039719 ALCMGEHG_00084 96721 9 Skin 0.04 protein_coding synonymous_variant LOW 1698T>C Phe566Phe
M0039720 ALCMGEHG_00082 97293 5 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -3569T>C None
M0039721 ALCMGEHG_00085 97546 3 Skin 0.01 protein_coding synonymous_variant LOW 207C>T Ser69Ser
M0039722 ALCMGEHG_00085 98153 6 Skin 0.02 protein_coding missense_variant MODERATE 814A>G Ser272Gly
M0039723 ALCMGEHG_00085 98170 3 Skin 0.01 protein_coding synonymous_variant LOW 831A>G Lys277Lys
M0039724 ALCMGEHG_00081 92184 3 Skin 0.01 protein_coding missense_variant MODERATE 791C>A Ala264Glu
M0039725 ALCMGEHG_00083 94073 3 Skin 0.01 protein_coding synonymous_variant LOW 309A>G Ala103Ala
M0039726 ALCMGEHG_00084 95539 4 Skin 0.02 protein_coding synonymous_variant LOW 516C>T Tyr172Tyr
M0039727 ALCMGEHG_00084 96130 7 Skin 0.03 protein_coding synonymous_variant LOW 1107A>G Gln369Gln
M0039728 ALCMGEHG_00084 96148 7 Skin 0.03 protein_coding synonymous_variant LOW 1125C>G Leu375Leu
M0039729 ALCMGEHG_00084 96202 8 Skin 0.03 protein_coding synonymous_variant LOW 1179A>G Val393Val
M0039730 ALCMGEHG_00084 96699 4 Skin 0.02 protein_coding missense_variant MODERATE 1676T>C Met559Thr
M0039731 ALCMGEHG_00084 96952 5 Skin 0.02 protein_coding synonymous_variant LOW 1929C>T Ala643Ala
M0039732 ALCMGEHG_00085 97960 3 Skin 0.01 protein_coding synonymous_variant LOW 621C>T Phe207Phe
M0039733 ALCMGEHG_00085 97978 3 Skin 0.01 protein_coding synonymous_variant LOW 639C>T Tyr213Tyr
M0039734 ALCMGEHG_00085 97995 3 Skin 0.01 protein_coding missense_variant MODERATE 656A>C Asn219Thr
M0039735 ALCMGEHG_00085 97999 3 Skin 0.01 protein_coding synonymous_variant LOW 660T>C Thr220Thr
M0039736 ALCMGEHG_00085 98002 3 Skin 0.01 protein_coding missense_variant MODERATE 663A>C Glu221Asp
M0039737 ALCMGEHG_00085 98011 3 Skin 0.01 protein_coding synonymous_variant LOW 672G>A Leu224Leu
M0039738 ALCMGEHG_00033 39888 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4304T>G None
M0039739 ALCMGEHG_00033 39889 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4305G>T None
M0039740 ALCMGEHG_00033 39890 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4306C>G None
M0039741 ALCMGEHG_00002 1801 4 Skin 0.02 protein_coding synonymous_variant LOW 291C>T Tyr97Tyr
M0039742 ALCMGEHG_00021 22089 3 Skin 0.01 protein_coding synonymous_variant LOW 366G>C Val122Val
M0039743 ALCMGEHG_00021 22095 3 Skin 0.01 protein_coding missense_variant MODERATE 372G>C Gln124His
M0039744 ALCMGEHG_00066 77408 3 Skin 0.01 protein_coding missense_variant MODERATE 325G>A Ala109Thr
M0039745 ALCMGEHG_00048 50622 6 Skin 0.02 protein_coding synonymous_variant LOW 1143C>G Leu381Leu
M0039746 ALCMGEHG_00049 51313 7 Skin 0.03 protein_coding synonymous_variant LOW 396C>G Pro132Pro
M0039747 ALCMGEHG_00049 51320 7 Skin 0.03 protein_coding missense_variant MODERATE 403C>G Pro135Ala
M0039748 ALCMGEHG_00049 51322 7 Skin 0.03 protein_coding synonymous_variant LOW 405A>G Pro135Pro
M0039749 ALCMGEHG_00049 51331 7 Skin 0.03 protein_coding synonymous_variant LOW 414T>C Asn138Asn
M0039750 ALCMGEHG_00049 51349 5 Skin 0.02 protein_coding synonymous_variant LOW 432C>T Thr144Thr
M0039751 ALCMGEHG_00049 51352 5 Skin 0.02 protein_coding synonymous_variant LOW 435G>A Ala145Ala
M0039752 ALCMGEHG_00049 51356 5 Skin 0.02 protein_coding missense_variant MODERATE 439C>T Leu147Phe
M0039753 ALCMGEHG_00049 51364 5 Skin 0.02 protein_coding synonymous_variant LOW 447A>T Gly149Gly
M0039754 ALCMGEHG_00049 51367 5 Skin 0.02 protein_coding synonymous_variant LOW 450G>C Arg150Arg
M0039755 ALCMGEHG_00049 51368 5 Skin 0.02 protein_coding missense_variant MODERATE 451G>C Ala151Pro
M0039756 ALCMGEHG_00049 51370 5 Skin 0.02 protein_coding synonymous_variant LOW 453G>C Ala151Ala
M0039757 ALCMGEHG_00049 51521 3 Skin 0.01 protein_coding missense_variant MODERATE 604C>G Leu202Val
M0039758 ALCMGEHG_00049 51561 3 Skin 0.01 protein_coding missense_variant MODERATE 644T>C Leu215Pro
M0039759 ALCMGEHG_00009 7959 4 Skin 0.02 protein_coding synonymous_variant LOW 648G>A Leu216Leu
M0039760 ALCMGEHG_00087 99680 3 Skin 0.01 protein_coding synonymous_variant LOW 249T>C Gly83Gly
M0039761 ALCMGEHG_00067 78601 3 Skin 0.01 protein_coding synonymous_variant LOW 585G>A Ser195Ser
M0039762 ALCMGEHG_00037 39432 3 Skin 0.01 protein_coding synonymous_variant LOW 90G>A Leu30Leu
M0039763 ALCMGEHG_00037 39434 4 Skin 0.02 protein_coding synonymous_variant LOW 88T>C Leu30Leu
M0039764 ALCMGEHG_00010 8895 5 Skin 0.02 protein_coding synonymous_variant LOW 268C>T Leu90Leu
M0039765 ALCMGEHG_00010 9019 4 Skin 0.02 protein_coding synonymous_variant LOW 144G>A Arg48Arg
M0039766 ALCMGEHG_00058 64058 3 Skin 0.01 protein_coding missense_variant MODERATE 1393G>A Ala465Thr
M0039767 ALCMGEHG_00057 64165 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -1557C>T None
M0039768 ALCMGEHG_00057 64174 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -1566G>A None
M0039769 ALCMGEHG_00059 64226 3 Skin 0.01 protein_coding synonymous_variant LOW 1542G>C Leu514Leu
M0039770 ALCMGEHG_00059 64232 3 Skin 0.01 protein_coding synonymous_variant LOW 1536C>T Asp512Asp
M0039771 ALCMGEHG_00057 65877 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -3269C>T None
M0039772 ALCMGEHG_00060 65882 3 Skin 0.01 protein_coding missense_variant MODERATE 1559G>A Arg520Gln
M0039773 ALCMGEHG_00060 65883 3 Skin 0.01 protein_coding synonymous_variant LOW 1558C>A Arg520Arg
M0039774 ALCMGEHG_00060 67090 3 Skin 0.01 protein_coding synonymous_variant LOW 351T>C Asp117Asp
M0039775 ALCMGEHG_00084 96730 3 Skin 0.01 protein_coding synonymous_variant LOW 1707G>C Thr569Thr
M0039776 ALCMGEHG_00084 96940 3 Skin 0.01 protein_coding synonymous_variant LOW 1917T>C Gly639Gly
M0039777 ALCMGEHG_00084 96991 3 Skin 0.01 protein_coding synonymous_variant LOW 1968T>C Asn656Asn
M0039778 ALCMGEHG_00088 100649 3 Skin 0.01 protein_coding synonymous_variant LOW 594C>T Gly198Gly
M0039779 ALCMGEHG_00088 100685 3 Skin 0.01 protein_coding synonymous_variant LOW 630C>G Leu210Leu
M0039780 ALCMGEHG_00086 101278 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -2285C>G None
M0039781 ALCMGEHG_00086 101281 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -2288T>C None
M0039782 ALCMGEHG_00053 56974 3 Skin 0.01 protein_coding synonymous_variant LOW 861C>T Asn287Asn
M0039783 ALCMGEHG_00053 56996 3 Skin 0.01 protein_coding missense_variant MODERATE 839C>G Ser280Cys
M0039784 ALCMGEHG_00053 56997 3 Skin 0.01 protein_coding missense_variant MODERATE 838T>A Ser280Thr
M0039785 ALCMGEHG_00053 56998 3 Skin 0.01 protein_coding synonymous_variant LOW 837T>C Phe279Phe
M0039786 ALCMGEHG_00040 42397 3 Skin 0.01 protein_coding synonymous_variant LOW 408T>C Arg136Arg
M0039787 ALCMGEHG_00040 42421 3 Skin 0.01 protein_coding synonymous_variant LOW 384T>C Tyr128Tyr
M0039788 ALCMGEHG_00040 42442 3 Skin 0.01 protein_coding synonymous_variant LOW 363C>T Arg121Arg
M0039789 ALCMGEHG_00040 42451 3 Skin 0.01 protein_coding synonymous_variant LOW 354G>A Val118Val
M0039790 ALCMGEHG_00040 42478 3 Skin 0.01 protein_coding synonymous_variant LOW 327T>C Phe109Phe
M0039791 ALCMGEHG_00040 42481 3 Skin 0.01 protein_coding synonymous_variant LOW 324T>C Pro108Pro
M0039792 ALCMGEHG_00040 42508 3 Skin 0.01 protein_coding synonymous_variant LOW 297T>C Val99Val
M0039793 ALCMGEHG_00040 42574 3 Skin 0.01 protein_coding synonymous_variant LOW 231A>G Arg77Arg
M0039794 ALCMGEHG_00041 43113 3 Skin 0.01 protein_coding synonymous_variant LOW 489G>A Ala163Ala
M0039795 ALCMGEHG_00042 44108 3 Skin 0.01 protein_coding synonymous_variant LOW 876T>C Ala292Ala
M0039796 ALCMGEHG_00033 34760 3 Skin 0.01 protein_coding synonymous_variant LOW 825T>G Pro275Pro
M0039797 ALCMGEHG_00034 36062 3 Skin 0.01 protein_coding synonymous_variant LOW 330G>C Gly110Gly
M0039798 ALCMGEHG_00034 36083 3 Skin 0.01 protein_coding synonymous_variant LOW 309G>A Thr103Thr
M0039799 ALCMGEHG_00034 36098 3 Skin 0.01 protein_coding synonymous_variant LOW 294G>A Ala98Ala
M0039800 ALCMGEHG_00034 36106 3 Skin 0.01 protein_coding missense_variant MODERATE 286C>T Pro96Ser
M0039801 ALCMGEHG_00048 50217 6 Skin 0.02 protein_coding synonymous_variant LOW 738A>C Ala246Ala
M0039802 ALCMGEHG_00048 50598 3 Skin 0.01 protein_coding synonymous_variant LOW 1119T>C Gly373Gly
M0039803 ALCMGEHG_00048 50631 5 Skin 0.02 protein_coding synonymous_variant LOW 1152A>C Gly384Gly
M0039804 ALCMGEHG_00048 50635 5 Skin 0.02 protein_coding missense_variant MODERATE 1156A>G Thr386Ala
M0039805 ALCMGEHG_00057 64156 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -1548C>T None
M0039806 ALCMGEHG_00006 4170 4 Skin 0.02 protein_coding synonymous_variant LOW 45C>G Leu15Leu
M0039807 ALCMGEHG_00008 5698 3 Skin 0.01 protein_coding missense_variant MODERATE 58C>G Leu20Val
M0039808 ALCMGEHG_00009 7923 3 Skin 0.01 protein_coding synonymous_variant LOW 684T>C Asp228Asp
M0039809 ALCMGEHG_00009 7936 3 Skin 0.01 protein_coding missense_variant MODERATE 671C>A Thr224Asn
M0039810 ALCMGEHG_00009 7937 3 Skin 0.01 protein_coding missense_variant MODERATE 670A>G Thr224Ala
M0039811 ALCMGEHG_00009 8061 3 Skin 0.01 protein_coding synonymous_variant LOW 546G>A Leu182Leu
M0039812 ALCMGEHG_00009 8067 3 Skin 0.01 protein_coding synonymous_variant LOW 540A>G Glu180Glu
M0039813 ALCMGEHG_00009 8097 3 Skin 0.01 protein_coding synonymous_variant LOW 510C>G Leu170Leu
M0039814 ALCMGEHG_00009 8100 3 Skin 0.01 protein_coding synonymous_variant LOW 507C>T Gly169Gly
M0039815 ALCMGEHG_00009 8112 4 Skin 0.02 protein_coding synonymous_variant LOW 495T>G Leu165Leu
M0039816 ALCMGEHG_00009 8120 4 Skin 0.02 protein_coding missense_variant MODERATE 487C>A Leu163Ile
M0039817 ALCMGEHG_00061 68274 3 Skin 0.01 protein_coding synonymous_variant LOW 684C>T Thr228Thr
M0039818 ALCMGEHG_00061 68286 3 Skin 0.01 protein_coding synonymous_variant LOW 672T>C Pro224Pro
M0039819 ALCMGEHG_00061 68643 5 Skin 0.02 protein_coding synonymous_variant LOW 315G>C Pro105Pro
M0039820 ALCMGEHG_00061 68664 3 Skin 0.01 protein_coding synonymous_variant LOW 294C>T Pro98Pro
M0039821 ALCMGEHG_00062 69636 5 Skin 0.02 protein_coding synonymous_variant LOW 453A>G Gln151Gln
M0039822 ALCMGEHG_00036 37789 4 Skin 0.02 protein_coding synonymous_variant LOW 816A>G Gln272Gln
M0039823 ALCMGEHG_00036 37801 4 Skin 0.02 protein_coding synonymous_variant LOW 804G>A Gln268Gln
M0039824 ALCMGEHG_00036 37802 4 Skin 0.02 protein_coding missense_variant MODERATE 803A>G Gln268Arg
M0039825 ALCMGEHG_00036 37831 4 Skin 0.02 protein_coding synonymous_variant LOW 774G>A Pro258Pro
M0039826 ALCMGEHG_00036 37840 4 Skin 0.02 protein_coding synonymous_variant LOW 765G>A Gln255Gln
M0039827 ALCMGEHG_00006 4583 3 Skin 0.01 protein_coding missense_variant MODERATE 458C>T Ala153Val
M0039828 ALCMGEHG_00048 50585 4 Skin 0.02 protein_coding missense_variant MODERATE 1106A>C Glu369Ala
M0039829 ALCMGEHG_00049 51301 4 Skin 0.02 protein_coding synonymous_variant LOW 384T>G Arg128Arg
M0039830 ALCMGEHG_00087 99304 3 Skin 0.01 protein_coding synonymous_variant LOW 625A>C Arg209Arg
M0039831 ALCMGEHG_00033 35507 3 Skin 0.01 protein_coding synonymous_variant LOW 78C>T Leu26Leu
M0039832 ALCMGEHG_00033 35515 3 Skin 0.01 protein_coding missense_variant MODERATE 70C>A His24Asn
M0039833 ALCMGEHG_00033 35516 3 Skin 0.01 protein_coding synonymous_variant LOW 69A>G Lys23Lys
M0039834 ALCMGEHG_00029 35588 3 Skin 0.01 protein_coding upstream_gene_variant MODIFIER -4862T>C None
M0039835 ALCMGEHG_00008 6729 3 Skin 0.01 protein_coding synonymous_variant LOW 1089G>C Ala363Ala
M0039836 ALCMGEHG_00065 76710 4 Skin 0.02 protein_coding synonymous_variant LOW 171C>T Val57Val






Analysis of virulence factors contributing to bacterial pathogenicity


This table presents virulence factors identified within the plasmid cluster.
      Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.

Gene Name vf_gene_id vf_name identity evalue qstart qend query_coverage subject_coverage vf_category gene_description condition







        Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact


This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
      Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.

Gene Name compound identity evalue qstart qend query_coverage subject_coverage group






        Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents


This table presents antimicrobial resistance genes identified within the plasmid cluster.
      Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.

Gene Name aro_accession identity evalue qstart qend query_coverage subject_coverage drug_class amr_gene_family resistance_mechanism






Analysis of pathogenicity genes to explore pathogen-host interactions


This table presents host pathogen-host interactions within the plasmid cluster.
      Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.

Gene Name phi_molconn_id host gene_name identity evalue qstart qend query_coverage subject_coverage host_descripton disease_name function phenotype_of_mutant






        Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation


This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
      Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.

Gene Name cazy_id identity evalue qstart qend query_coverage subject_coverage
ALCMGEHG_00080 QII22104.1|CE9 85.9 3.99e-219 3 372 0.9893 0.9814





        Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification


This table presents transport proteins within the plasmid cluster.
      Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.

Gene Name tcid identity evalue qstart qend query_coverage subject_coverage class_field class_term subclass subclass_term family family_term