Annotation Categories of the Plasmid Cluster







Summary of the plasmid cluster

Basic Information about the Plasmid Cluster

  Cluster Information   Plasmid Cluster ID   C1209
  Reference Plasmid   NZ_CP135139.1
  Reference Plasmid Size   70594
  Reference Plasmid GC Content   0.41
  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
M0113410 KCHOKHNP_00029 34855 20 Skin 0.13 protein_coding synonymous_variant LOW 870G>A Leu290Leu
M0113411 KCHOKHNP_00029 35042 19 Skin 0.12 protein_coding synonymous_variant LOW 1057C>T Leu353Leu
M0113412 KCHOKHNP_00029 35044 19 Skin 0.12 protein_coding synonymous_variant LOW 1059A>G Leu353Leu
M0113413 KCHOKHNP_00029 35197 15 Skin 0.10 protein_coding synonymous_variant LOW 1212G>A Glu404Glu
M0113414 KCHOKHNP_00029 35314 22 Skin 0.14 protein_coding synonymous_variant LOW 1329C>A Thr443Thr
M0113415 KCHOKHNP_00029 35326 18 Skin 0.12 protein_coding missense_variant MODERATE 1341C>A Asp447Glu
M0113416 KCHOKHNP_00030 35375 15 Skin 0.10 protein_coding upstream_gene_variant MODIFIER -34A>T None
M0113417 KCHOKHNP_00030 35446 19 Skin 0.12 protein_coding missense_variant MODERATE 38C>G Ser13Trp
M0113418 KCHOKHNP_00030 35450 14 Skin 0.09 protein_coding synonymous_variant LOW 42G>C Ala14Ala
M0113419 KCHOKHNP_00030 35453 14 Skin 0.09 protein_coding synonymous_variant LOW 45C>A Ile15Ile
M0113420 KCHOKHNP_00030 35457 18 Skin 0.12 protein_coding missense_variant MODERATE 49T>G Leu17Val
M0113421 KCHOKHNP_00030 35513 17 Skin 0.11 protein_coding synonymous_variant LOW 105A>G Leu35Leu
M0113422 KCHOKHNP_00030 35523 17 Skin 0.11 protein_coding missense_variant MODERATE 115C>A His39Asn
M0113423 KCHOKHNP_00030 35535 20 Skin 0.13 protein_coding missense_variant MODERATE 127T>A Leu43Met
M0113424 KCHOKHNP_00030 35744 21 Skin 0.14 protein_coding synonymous_variant LOW 336T>C Tyr112Tyr
M0113425 KCHOKHNP_00030 35847 14 Skin 0.09 protein_coding missense_variant MODERATE 439G>A Asp147Asn
M0113426 KCHOKHNP_00030 35978 18 Skin 0.12 protein_coding synonymous_variant LOW 570C>T Ile190Ile
M0113427 KCHOKHNP_00030 36051 21 Skin 0.14 protein_coding missense_variant MODERATE 643A>G Ile215Val
M0113428 KCHOKHNP_00030 36167 16 Skin 0.10 protein_coding synonymous_variant LOW 759G>A Leu253Leu
M0113429 KCHOKHNP_00036 36947 10 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4352C>T None
M0113430 KCHOKHNP_00036 36956 22 Skin 0.14 protein_coding upstream_gene_variant MODIFIER -4343C>T None
M0113431 KCHOKHNP_00031 37169 14 Skin 0.09 protein_coding synonymous_variant LOW 342T>G Ala114Ala
M0113432 KCHOKHNP_00031 37400 17 Skin 0.11 protein_coding missense_variant MODERATE 111A>C Gln37His
M0113433 KCHOKHNP_00032 37774 24 Skin 0.15 protein_coding synonymous_variant LOW 780T>C Thr260Thr
M0113434 KCHOKHNP_00032 38281 25 Skin 0.16 protein_coding synonymous_variant LOW 273G>A Gln91Gln
M0113435 KCHOKHNP_00032 38284 25 Skin 0.16 protein_coding synonymous_variant LOW 270C>T Ile90Ile
M0113436 KCHOKHNP_00032 38305 24 Skin 0.15 protein_coding synonymous_variant LOW 249G>A Lys83Lys
M0113437 KCHOKHNP_00032 38371 22 Skin 0.14 protein_coding synonymous_variant LOW 183T>C Gly61Gly
M0113438 KCHOKHNP_00032 38377 22 Skin 0.14 protein_coding missense_variant MODERATE 177A>C Glu59Asp
M0113439 KCHOKHNP_00032 38404 20 Skin 0.13 protein_coding synonymous_variant LOW 150A>G Ala50Ala
M0113440 KCHOKHNP_00032 38425 23 Skin 0.15 protein_coding synonymous_variant LOW 129A>C Arg43Arg
M0113441 KCHOKHNP_00032 38428 23 Skin 0.15 protein_coding synonymous_variant LOW 126A>G Glu42Glu
M0113442 KCHOKHNP_00031 38566 22 Skin 0.14 protein_coding upstream_gene_variant MODIFIER -1056C>T None
M0113443 KCHOKHNP_00033 38604 23 Skin 0.15 protein_coding synonymous_variant LOW 963T>C Thr321Thr
M0113444 KCHOKHNP_00033 38643 19 Skin 0.12 protein_coding synonymous_variant LOW 924T>C Asp308Asp
M0113445 KCHOKHNP_00034 40208 21 Skin 0.14 protein_coding synonymous_variant LOW 81T>C Pro27Pro
M0113446 KCHOKHNP_00034 40278 21 Skin 0.14 protein_coding missense_variant MODERATE 11C>T Ser4Leu
M0113447 KCHOKHNP_00031 40333 15 Skin 0.10 protein_coding upstream_gene_variant MODIFIER -2823A>G None
M0113448 KCHOKHNP_00035 40575 22 Skin 0.14 protein_coding synonymous_variant LOW 483C>T Ser161Ser
M0113449 KCHOKHNP_00035 40722 22 Skin 0.14 protein_coding synonymous_variant LOW 336T>C Ala112Ala
M0113450 KCHOKHNP_00035 40856 16 Skin 0.10 protein_coding missense_variant MODERATE 202G>A Gly68Arg
M0113451 KCHOKHNP_00031 41069 16 Skin 0.10 protein_coding upstream_gene_variant MODIFIER -3559C>T None
M0113452 KCHOKHNP_00031 41081 18 Skin 0.12 protein_coding upstream_gene_variant MODIFIER -3571A>T None
M0113453 KCHOKHNP_00031 41141 22 Skin 0.14 protein_coding upstream_gene_variant MODIFIER -3631G>T None
M0113454 KCHOKHNP_00031 41180 22 Skin 0.14 protein_coding upstream_gene_variant MODIFIER -3670G>A None
M0113455 KCHOKHNP_00031 41181 22 Skin 0.14 protein_coding upstream_gene_variant MODIFIER -3671T>A None
M0113456 KCHOKHNP_00031 41182 22 Skin 0.14 protein_coding upstream_gene_variant MODIFIER -3672A>T None
M0113457 KCHOKHNP_00031 41186 22 Skin 0.14 protein_coding upstream_gene_variant MODIFIER -3676T>C None
M0113458 KCHOKHNP_00031 41187 22 Skin 0.14 protein_coding upstream_gene_variant MODIFIER -3677T>C None
M0113459 KCHOKHNP_00031 41188 22 Skin 0.14 protein_coding upstream_gene_variant MODIFIER -3678T>A None
M0113460 KCHOKHNP_00031 41193 22 Skin 0.14 protein_coding upstream_gene_variant MODIFIER -3683C>T None
M0113461 KCHOKHNP_00031 41224 22 Skin 0.14 protein_coding upstream_gene_variant MODIFIER -3714A>C None
M0113462 KCHOKHNP_00031 41244 21 Skin 0.14 protein_coding upstream_gene_variant MODIFIER -3734G>A None
M0113463 KCHOKHNP_00036 42087 22 Skin 0.14 protein_coding synonymous_variant LOW 789G>A Ser263Ser
M0113464 KCHOKHNP_00036 42090 22 Skin 0.14 protein_coding synonymous_variant LOW 792C>T Tyr264Tyr
M0113465 KCHOKHNP_00036 42102 22 Skin 0.14 protein_coding synonymous_variant LOW 804G>C Pro268Pro
M0113466 KCHOKHNP_00036 42117 22 Skin 0.14 protein_coding synonymous_variant LOW 819A>T Gly273Gly
M0113467 KCHOKHNP_00036 42120 22 Skin 0.14 protein_coding synonymous_variant LOW 822T>C Asp274Asp
M0113468 KCHOKHNP_00036 42132 22 Skin 0.14 protein_coding synonymous_variant LOW 834T>C Tyr278Tyr
M0113469 KCHOKHNP_00036 42134 22 Skin 0.14 protein_coding missense_variant MODERATE 836G>C Gly279Ala
M0113470 KCHOKHNP_00036 42141 20 Skin 0.13 protein_coding synonymous_variant LOW 843C>T Ser281Ser
M0113471 KCHOKHNP_00036 42144 22 Skin 0.14 protein_coding synonymous_variant LOW 846C>T Tyr282Tyr
M0113472 KCHOKHNP_00036 42150 22 Skin 0.14 protein_coding missense_variant MODERATE 852C>A Asp284Glu
M0113473 KCHOKHNP_00036 42153 22 Skin 0.14 protein_coding synonymous_variant LOW 855C>A Val285Val
M0113474 KCHOKHNP_00036 42162 22 Skin 0.14 protein_coding synonymous_variant LOW 864C>T Gly288Gly
M0113475 KCHOKHNP_00040 45338 6 Skin 0.04 protein_coding synonymous_variant LOW 378G>A Leu126Leu
M0113476 KCHOKHNP_00040 45497 31 Skin 0.20 protein_coding synonymous_variant LOW 537T>C Arg179Arg
M0113477 KCHOKHNP_00040 45539 37 Skin 0.24 protein_coding synonymous_variant LOW 579C>T Arg193Arg
M0113478 KCHOKHNP_00040 45605 35 Skin 0.23 protein_coding synonymous_variant LOW 645C>T Leu215Leu
M0113479 KCHOKHNP_00040 45647 10 Skin 0.06 protein_coding synonymous_variant LOW 687T>C Ala229Ala
M0113480 KCHOKHNP_00040 45719 32 Skin 0.21 protein_coding synonymous_variant LOW 759T>G Ala253Ala
M0113481 KCHOKHNP_00041 46251 14 Skin 0.09 protein_coding synonymous_variant LOW 456T>C Arg152Arg
M0113482 KCHOKHNP_00041 46269 4 Skin 0.03 protein_coding synonymous_variant LOW 474T>C Gly158Gly
M0113483 KCHOKHNP_00041 46281 40 Skin 0.26 protein_coding synonymous_variant LOW 486A>G Lys162Lys
M0113484 KCHOKHNP_00041 46330 37 Skin 0.24 protein_coding missense_variant MODERATE 535A>G Asn179Asp
M0113485 KCHOKHNP_00041 46335 40 Skin 0.26 protein_coding synonymous_variant LOW 540G>A Lys180Lys
M0113486 KCHOKHNP_00041 46338 40 Skin 0.26 protein_coding synonymous_variant LOW 543T>C Val181Val
M0113487 KCHOKHNP_00041 46456 22 Skin 0.14 protein_coding synonymous_variant LOW 661C>T Leu221Leu
M0113488 KCHOKHNP_00041 46510 3 Skin 0.02 protein_coding missense_variant MODERATE 715T>C Ser239Pro
M0113489 KCHOKHNP_00041 46541 19 Skin 0.12 protein_coding missense_variant MODERATE 746G>A Cys249Tyr
M0113490 KCHOKHNP_00041 46554 32 Skin 0.21 protein_coding synonymous_variant LOW 759T>C Ala253Ala
M0113491 KCHOKHNP_00041 46557 31 Skin 0.20 protein_coding synonymous_variant LOW 762A>G Ala254Ala
M0113492 KCHOKHNP_00041 46566 32 Skin 0.21 protein_coding synonymous_variant LOW 771T>C Ile257Ile
M0113493 KCHOKHNP_00041 46611 35 Skin 0.23 protein_coding synonymous_variant LOW 816C>T His272His
M0113494 KCHOKHNP_00041 46627 41 Skin 0.26 protein_coding missense_variant MODERATE 832T>G Leu278Val
M0113495 KCHOKHNP_00041 46650 34 Skin 0.22 protein_coding synonymous_variant LOW 855C>T Asp285Asp
M0113496 KCHOKHNP_00041 46656 26 Skin 0.17 protein_coding synonymous_variant LOW 861C>T Asp287Asp
M0113497 KCHOKHNP_00041 46657 33 Skin 0.21 protein_coding missense_variant MODERATE 862C>G Gln288Glu
M0113498 KCHOKHNP_00041 46670 30 Skin 0.19 protein_coding missense_variant MODERATE 875C>T Thr292Ile
M0113499 KCHOKHNP_00041 46680 34 Skin 0.22 protein_coding synonymous_variant LOW 885G>A Glu295Glu
M0113500 KCHOKHNP_00041 46694 40 Skin 0.26 protein_coding missense_variant MODERATE 899T>C Met300Thr
M0113501 KCHOKHNP_00041 46711 21 Skin 0.14 protein_coding missense_variant MODERATE 916G>A Val306Met
M0113502 KCHOKHNP_00037 46743 20 Skin 0.13 protein_coding upstream_gene_variant MODIFIER -3410T>C None
M0113503 KCHOKHNP_00037 46755 36 Skin 0.23 protein_coding upstream_gene_variant MODIFIER -3422A>T None
M0113504 KCHOKHNP_00037 46770 20 Skin 0.13 protein_coding upstream_gene_variant MODIFIER -3437T>C None
M0113505 KCHOKHNP_00037 46801 32 Skin 0.21 protein_coding upstream_gene_variant MODIFIER -3468A>T None
M0113506 KCHOKHNP_00042 46848 32 Skin 0.21 protein_coding missense_variant MODERATE 14A>C Glu5Ala
M0113507 KCHOKHNP_00042 46912 20 Skin 0.13 protein_coding synonymous_variant LOW 78T>G Ser26Ser
M0113508 KCHOKHNP_00042 46921 21 Skin 0.14 protein_coding synonymous_variant LOW 87A>C Arg29Arg
M0113509 KCHOKHNP_00042 46924 29 Skin 0.19 protein_coding synonymous_variant LOW 90T>C Ala30Ala
M0113510 KCHOKHNP_00042 46952 13 Skin 0.08 protein_coding missense_variant MODERATE 118C>A Leu40Met
M0113511 KCHOKHNP_00042 46994 25 Skin 0.16 protein_coding missense_variant MODERATE 160G>A Asp54Asn
M0113512 KCHOKHNP_00042 47048 36 Skin 0.23 protein_coding missense_variant MODERATE 214A>G Thr72Ala
M0113513 KCHOKHNP_00042 47071 29 Skin 0.19 protein_coding synonymous_variant LOW 237T>C Gly79Gly
M0113514 KCHOKHNP_00033 44377 12 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -4811A>C None
M0113515 KCHOKHNP_00033 44422 12 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -4856A>G None
M0113516 KCHOKHNP_00033 44424 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4858T>G None
M0113517 KCHOKHNP_00033 44432 11 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -4866T>C None
M0113518 KCHOKHNP_00034 44642 30 Skin 0.19 protein_coding upstream_gene_variant MODIFIER -4354C>T None
M0113519 KCHOKHNP_00034 44686 5 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4398C>T None
M0113520 KCHOKHNP_00034 44696 5 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4408G>A None
M0113521 KCHOKHNP_00034 44699 5 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4411T>G None
M0113522 KCHOKHNP_00034 44702 19 Skin 0.12 protein_coding upstream_gene_variant MODIFIER -4414A>C None
M0113523 KCHOKHNP_00034 44707 11 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -4419C>T None
M0113524 KCHOKHNP_00034 44718 10 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4430A>G None
M0113525 KCHOKHNP_00034 44731 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4443G>T None
M0113526 KCHOKHNP_00034 44758 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4470C>T None
M0113527 KCHOKHNP_00034 44770 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4482A>C None
M0113528 KCHOKHNP_00034 44771 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4483A>C None
M0113529 KCHOKHNP_00034 44836 14 Skin 0.09 protein_coding upstream_gene_variant MODIFIER -4548T>A None
M0113530 KCHOKHNP_00034 44856 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4568G>T None
M0113531 KCHOKHNP_00040 45047 21 Skin 0.14 protein_coding synonymous_variant LOW 87G>A Ala29Ala
M0113532 KCHOKHNP_00040 45119 31 Skin 0.20 protein_coding synonymous_variant LOW 159T>C Ile53Ile
M0113533 KCHOKHNP_00040 45186 28 Skin 0.18 protein_coding synonymous_variant LOW 226C>T Leu76Leu
M0113534 KCHOKHNP_00040 45197 28 Skin 0.18 protein_coding synonymous_variant LOW 237A>G Ala79Ala
M0113535 KCHOKHNP_00040 45254 32 Skin 0.21 protein_coding synonymous_variant LOW 294A>G Leu98Leu
M0113536 KCHOKHNP_00040 45305 6 Skin 0.04 protein_coding synonymous_variant LOW 345G>A Glu115Glu
M0113537 KCHOKHNP_00037 46728 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -3395G>A None
M0113538 KCHOKHNP_00042 46896 4 Skin 0.03 protein_coding missense_variant MODERATE 62C>T Thr21Ile
M0113539 KCHOKHNP_00042 47008 5 Skin 0.03 protein_coding stop_gained HIGH 174G>A Trp58*
M0113540 KCHOKHNP_00042 47180 23 Skin 0.15 protein_coding synonymous_variant LOW 346C>T Leu116Leu
M0113541 KCHOKHNP_00042 47198 26 Skin 0.17 protein_coding missense_variant MODERATE 364C>G His122Asp
M0113542 KCHOKHNP_00042 47237 4 Skin 0.03 protein_coding missense_variant MODERATE 403G>A Glu135Lys
M0113543 KCHOKHNP_00042 47285 16 Skin 0.10 protein_coding synonymous_variant LOW 451C>T Leu151Leu
M0113544 KCHOKHNP_00042 47311 5 Skin 0.03 protein_coding synonymous_variant LOW 477C>T Val159Val
M0113545 KCHOKHNP_00042 47344 18 Skin 0.12 protein_coding missense_variant MODERATE 510T>G His170Gln
M0113546 KCHOKHNP_00042 47443 3 Skin 0.02 protein_coding synonymous_variant LOW 609C>T Thr203Thr
M0113547 KCHOKHNP_00042 47521 3 Skin 0.02 protein_coding synonymous_variant LOW 687T>G Gly229Gly
M0113548 KCHOKHNP_00042 47590 13 Skin 0.08 protein_coding synonymous_variant LOW 756G>A Leu252Leu
M0113549 KCHOKHNP_00042 47596 13 Skin 0.08 protein_coding synonymous_variant LOW 762A>T Thr254Thr
M0113550 KCHOKHNP_00042 47660 20 Skin 0.13 protein_coding missense_variant MODERATE 826T>C Phe276Leu
M0113551 KCHOKHNP_00042 47681 5 Skin 0.03 protein_coding missense_variant MODERATE 847C>T Pro283Ser
M0113552 KCHOKHNP_00042 47755 7 Skin 0.05 protein_coding synonymous_variant LOW 921A>G Gln307Gln
M0113553 KCHOKHNP_00042 47797 14 Skin 0.09 protein_coding synonymous_variant LOW 963C>T Asn321Asn
M0113554 KCHOKHNP_00045 48944 15 Skin 0.10 protein_coding stop_gained HIGH 85C>T Gln29*
M0113555 KCHOKHNP_00045 48953 15 Skin 0.10 protein_coding missense_variant MODERATE 94G>A Ala32Thr
M0113556 KCHOKHNP_00045 48955 16 Skin 0.10 protein_coding synonymous_variant LOW 96C>T Ala32Ala
M0113557 KCHOKHNP_00045 48974 11 Skin 0.07 protein_coding missense_variant MODERATE 115C>G Arg39Gly
M0113558 KCHOKHNP_00045 48975 26 Skin 0.17 protein_coding missense_variant MODERATE 116G>A Arg39Gln
M0113559 KCHOKHNP_00045 49005 26 Skin 0.17 protein_coding missense_variant MODERATE 146A>G Glu49Gly
M0113560 KCHOKHNP_00045 49031 27 Skin 0.17 protein_coding missense_variant MODERATE 172A>C Ile58Leu
M0113561 KCHOKHNP_00045 49063 27 Skin 0.17 protein_coding synonymous_variant LOW 204T>C Thr68Thr
M0113562 KCHOKHNP_00045 49162 25 Skin 0.16 protein_coding synonymous_variant LOW 303A>G Ser101Ser
M0113563 KCHOKHNP_00045 49175 15 Skin 0.10 protein_coding missense_variant MODERATE 316G>A Ala106Thr
M0113564 KCHOKHNP_00045 49210 14 Skin 0.09 protein_coding synonymous_variant LOW 351C>T Gly117Gly
M0113565 KCHOKHNP_00045 49264 6 Skin 0.04 protein_coding synonymous_variant LOW 405C>A Ala135Ala
M0113566 KCHOKHNP_00045 49267 28 Skin 0.18 protein_coding synonymous_variant LOW 408A>G Leu136Leu
M0113567 KCHOKHNP_00045 49280 8 Skin 0.05 protein_coding missense_variant MODERATE 421T>C Tyr141His
M0113568 KCHOKHNP_00045 49319 12 Skin 0.08 protein_coding missense_variant MODERATE 460G>A Val154Ile
M0113569 KCHOKHNP_00045 50299 17 Skin 0.11 protein_coding synonymous_variant LOW 1440T>C Phe480Phe
M0113570 KCHOKHNP_00046 51216 14 Skin 0.09 protein_coding upstream_gene_variant MODIFIER -387C>T None
M0113571 KCHOKHNP_00046 51279 8 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -324T>C None
M0113572 KCHOKHNP_00046 51290 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -313G>A None
M0113573 KCHOKHNP_00046 51295 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -308G>A None
M0113574 KCHOKHNP_00046 51301 9 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -302T>C None
M0113575 KCHOKHNP_00046 51334 9 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -269G>A None
M0113576 KCHOKHNP_00046 51339 9 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -264G>A None
M0113577 KCHOKHNP_00046 52530 9 Skin 0.06 protein_coding missense_variant MODERATE 928G>A Val310Met
M0113578 KCHOKHNP_00047 52611 11 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -7C>A None
M0113579 KCHOKHNP_00047 52797 12 Skin 0.08 protein_coding synonymous_variant LOW 180G>A Gly60Gly
M0113580 KCHOKHNP_00047 52833 12 Skin 0.08 protein_coding synonymous_variant LOW 216C>T Asp72Asp
M0113581 KCHOKHNP_00047 52908 12 Skin 0.08 protein_coding synonymous_variant LOW 291T>C Thr97Thr
M0113582 KCHOKHNP_00047 52990 11 Skin 0.07 protein_coding missense_variant MODERATE 373A>G Ile125Val
M0113583 KCHOKHNP_00047 52995 10 Skin 0.06 protein_coding synonymous_variant LOW 378C>T Asp126Asp
M0113584 KCHOKHNP_00048 53108 7 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -185C>T None
M0113585 KCHOKHNP_00048 53186 8 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -107A>C None
M0113586 KCHOKHNP_00058 60025 10 Skin 0.06 protein_coding synonymous_variant LOW 162A>G Leu54Leu
M0113587 KCHOKHNP_00058 60031 10 Skin 0.06 protein_coding synonymous_variant LOW 156G>A Lys52Lys
M0113588 KCHOKHNP_00058 60034 10 Skin 0.06 protein_coding synonymous_variant LOW 153G>T Ala51Ala
M0113589 KCHOKHNP_00058 60037 10 Skin 0.06 protein_coding synonymous_variant LOW 150A>G Glu50Glu
M0113590 KCHOKHNP_00058 60040 10 Skin 0.06 protein_coding synonymous_variant LOW 147T>G Ala49Ala
M0113591 KCHOKHNP_00058 60043 10 Skin 0.06 protein_coding synonymous_variant LOW 144G>C Ser48Ser
M0113592 KCHOKHNP_00058 60073 10 Skin 0.06 protein_coding synonymous_variant LOW 114T>C Ser38Ser
M0113593 KCHOKHNP_00058 60082 8 Skin 0.05 protein_coding synonymous_variant LOW 105G>T Val35Val
M0113594 KCHOKHNP_00058 60085 8 Skin 0.05 protein_coding synonymous_variant LOW 102C>A Val34Val
M0113595 KCHOKHNP_00021 24790 10 Skin 0.06 protein_coding missense_variant MODERATE 130A>G Lys44Glu
M0113596 KCHOKHNP_00021 24807 4 Skin 0.03 protein_coding synonymous_variant LOW 147T>G Gly49Gly
M0113597 KCHOKHNP_00021 24838 7 Skin 0.05 protein_coding missense_variant MODERATE 178C>G Leu60Val
M0113598 KCHOKHNP_00021 24841 7 Skin 0.05 protein_coding missense_variant MODERATE 181C>T Pro61Ser
M0113599 KCHOKHNP_00021 24857 7 Skin 0.05 protein_coding stop_lost&splice_region_variant HIGH 197A>C Ter66Serext*?
M0113600 KCHOKHNP_00016 24898 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4895A>C None
M0113601 KCHOKHNP_00016 24902 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4899T>A None
M0113602 KCHOKHNP_00023 26728 6 Skin 0.04 protein_coding synonymous_variant LOW 129T>C Ala43Ala
M0113603 KCHOKHNP_00023 27158 6 Skin 0.04 protein_coding missense_variant MODERATE 559T>G Leu187Val
M0113604 KCHOKHNP_00023 27719 17 Skin 0.11 protein_coding missense_variant MODERATE 1120A>G Asn374Asp
M0113605 KCHOKHNP_00023 27835 11 Skin 0.07 protein_coding synonymous_variant LOW 1236C>A Ile412Ile
M0113606 KCHOKHNP_00024 28156 15 Skin 0.10 protein_coding missense_variant MODERATE 9T>G Asp3Glu
M0113607 KCHOKHNP_00024 28307 15 Skin 0.10 protein_coding missense_variant MODERATE 160A>C Asn54His
M0113608 KCHOKHNP_00024 28342 8 Skin 0.05 protein_coding synonymous_variant LOW 195A>C Val65Val
M0113609 KCHOKHNP_00024 28365 15 Skin 0.10 protein_coding missense_variant MODERATE 218C>G Thr73Ser
M0113610 KCHOKHNP_00024 28528 12 Skin 0.08 protein_coding synonymous_variant LOW 381A>G Val127Val
M0113611 KCHOKHNP_00024 28591 16 Skin 0.10 protein_coding synonymous_variant LOW 444T>A Ile148Ile
M0113612 KCHOKHNP_00024 28607 16 Skin 0.10 protein_coding missense_variant MODERATE 460C>A Leu154Ile
M0113613 KCHOKHNP_00024 28699 14 Skin 0.09 protein_coding synonymous_variant LOW 552T>C Leu184Leu
M0113614 KCHOKHNP_00024 28804 16 Skin 0.10 protein_coding synonymous_variant LOW 657G>C Val219Val
M0113615 KCHOKHNP_00024 29033 15 Skin 0.10 protein_coding synonymous_variant LOW 886T>C Leu296Leu
M0113616 KCHOKHNP_00024 29185 14 Skin 0.09 protein_coding synonymous_variant LOW 1038C>T Ser346Ser
M0113617 KCHOKHNP_00024 29191 14 Skin 0.09 protein_coding synonymous_variant LOW 1044C>G Thr348Thr
M0113618 KCHOKHNP_00024 29275 13 Skin 0.08 protein_coding synonymous_variant LOW 1128C>T Asp376Asp
M0113619 KCHOKHNP_00024 29350 15 Skin 0.10 protein_coding synonymous_variant LOW 1203C>T Asn401Asn
M0113620 KCHOKHNP_00024 29376 15 Skin 0.10 protein_coding missense_variant MODERATE 1229G>A Arg410Lys
M0113621 KCHOKHNP_00024 29602 14 Skin 0.09 protein_coding synonymous_variant LOW 1455C>T Gly485Gly
M0113622 KCHOKHNP_00024 29675 16 Skin 0.10 protein_coding missense_variant MODERATE 1528G>C Asp510His
M0113623 KCHOKHNP_00024 29734 12 Skin 0.08 protein_coding synonymous_variant LOW 1587G>A Val529Val
M0113624 KCHOKHNP_00024 29743 13 Skin 0.08 protein_coding synonymous_variant LOW 1596C>T Thr532Thr
M0113625 KCHOKHNP_00024 29862 11 Skin 0.07 protein_coding missense_variant MODERATE 1715G>A Ser572Asn
M0113626 KCHOKHNP_00024 30115 7 Skin 0.05 protein_coding synonymous_variant LOW 1968G>A Leu656Leu
M0113627 KCHOKHNP_00024 30324 7 Skin 0.05 protein_coding missense_variant MODERATE 2177A>G Asp726Gly
M0113628 KCHOKHNP_00024 30432 16 Skin 0.10 protein_coding missense_variant MODERATE 2285G>A Ser762Asn
M0113629 KCHOKHNP_00024 30466 15 Skin 0.10 protein_coding synonymous_variant LOW 2319A>G Lys773Lys
M0113630 KCHOKHNP_00025 30616 8 Skin 0.05 protein_coding missense_variant MODERATE 23G>A Arg8Lys
M0113631 KCHOKHNP_00025 30718 17 Skin 0.11 protein_coding missense_variant MODERATE 125A>G His42Arg
M0113632 KCHOKHNP_00025 30948 8 Skin 0.05 protein_coding missense_variant MODERATE 355T>C Phe119Leu
M0113633 KCHOKHNP_00025 31042 13 Skin 0.08 protein_coding missense_variant MODERATE 449C>T Thr150Ile
M0113634 KCHOKHNP_00025 31059 18 Skin 0.12 protein_coding missense_variant MODERATE 466T>A Cys156Ser
M0113635 KCHOKHNP_00025 31128 18 Skin 0.12 protein_coding missense_variant MODERATE 535A>G Ile179Val
M0113636 KCHOKHNP_00025 31158 18 Skin 0.12 protein_coding synonymous_variant LOW 565C>T Leu189Leu
M0113637 KCHOKHNP_00025 31305 17 Skin 0.11 protein_coding missense_variant MODERATE 712C>G His238Asp
M0113638 KCHOKHNP_00025 31316 17 Skin 0.11 protein_coding synonymous_variant LOW 723A>G Glu241Glu
M0113639 KCHOKHNP_00025 31317 17 Skin 0.11 protein_coding missense_variant MODERATE 724A>C Lys242Gln
M0113640 KCHOKHNP_00025 31322 17 Skin 0.11 protein_coding synonymous_variant LOW 729T>C Leu243Leu
M0113641 KCHOKHNP_00025 31325 17 Skin 0.11 protein_coding synonymous_variant LOW 732C>T Ile244Ile
M0113642 KCHOKHNP_00025 31370 18 Skin 0.12 protein_coding synonymous_variant LOW 777T>C Asp259Asp
M0113643 KCHOKHNP_00026 31685 17 Skin 0.11 protein_coding upstream_gene_variant MODIFIER -57C>T None
M0113644 KCHOKHNP_00026 32014 12 Skin 0.08 protein_coding synonymous_variant LOW 273T>C Val91Val
M0113645 KCHOKHNP_00026 32035 11 Skin 0.07 protein_coding synonymous_variant LOW 294A>T Pro98Pro
M0113646 KCHOKHNP_00026 32059 10 Skin 0.06 protein_coding synonymous_variant LOW 318A>G Leu106Leu
M0113647 KCHOKHNP_00026 32159 10 Skin 0.06 protein_coding missense_variant MODERATE 418G>A Ala140Thr
M0113648 KCHOKHNP_00026 32284 10 Skin 0.06 protein_coding synonymous_variant LOW 543G>C Val181Val
M0113649 KCHOKHNP_00026 32297 12 Skin 0.08 protein_coding synonymous_variant LOW 556T>C Leu186Leu
M0113650 KCHOKHNP_00026 32368 10 Skin 0.06 protein_coding synonymous_variant LOW 627A>G Val209Val
M0113651 KCHOKHNP_00026 32445 7 Skin 0.05 protein_coding missense_variant MODERATE 704G>A Arg235Lys
M0113652 KCHOKHNP_00026 32447 9 Skin 0.06 protein_coding missense_variant MODERATE 706T>G Tyr236Asp
M0113653 KCHOKHNP_00026 32629 7 Skin 0.05 protein_coding synonymous_variant LOW 888T>C Pro296Pro
M0113654 KCHOKHNP_00027 32912 19 Skin 0.12 protein_coding upstream_gene_variant MODIFIER -188C>A None
M0113655 KCHOKHNP_00027 33085 10 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -15C>T None
M0113656 KCHOKHNP_00027 33255 17 Skin 0.11 protein_coding missense_variant MODERATE 156A>C Glu52Asp
M0113657 KCHOKHNP_00027 33456 15 Skin 0.10 protein_coding synonymous_variant LOW 357A>G Leu119Leu
M0113658 KCHOKHNP_00027 33507 14 Skin 0.09 protein_coding synonymous_variant LOW 408T>C Arg136Arg
M0113659 KCHOKHNP_00027 33591 14 Skin 0.09 protein_coding synonymous_variant LOW 492A>G Glu164Glu
M0113660 KCHOKHNP_00028 33680 15 Skin 0.10 protein_coding synonymous_variant LOW 81G>A Leu27Leu
M0113661 KCHOKHNP_00028 33753 15 Skin 0.10 protein_coding missense_variant MODERATE 154T>C Ser52Pro
M0113662 KCHOKHNP_00028 33856 7 Skin 0.05 protein_coding missense_variant MODERATE 257C>T Thr86Ile
M0113663 KCHOKHNP_00028 33887 17 Skin 0.11 protein_coding synonymous_variant LOW 288G>T Ala96Ala
M0113664 KCHOKHNP_00029 33981 9 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -5G>A None
M0113665 KCHOKHNP_00029 34040 17 Skin 0.11 protein_coding missense_variant MODERATE 55C>A Leu19Met
M0113666 KCHOKHNP_00029 34105 6 Skin 0.04 protein_coding synonymous_variant LOW 120G>A Val40Val
M0113667 KCHOKHNP_00029 34139 7 Skin 0.05 protein_coding missense_variant MODERATE 154C>T Pro52Ser
M0113668 KCHOKHNP_00029 34156 7 Skin 0.05 protein_coding synonymous_variant LOW 171A>G Thr57Thr
M0113669 KCHOKHNP_00029 34270 16 Skin 0.10 protein_coding synonymous_variant LOW 285G>A Val95Val
M0113670 KCHOKHNP_00029 34414 17 Skin 0.11 protein_coding synonymous_variant LOW 429G>A Ser143Ser
M0113671 KCHOKHNP_00029 34439 16 Skin 0.10 protein_coding synonymous_variant LOW 454T>C Leu152Leu
M0113672 KCHOKHNP_00029 34444 16 Skin 0.10 protein_coding synonymous_variant LOW 459C>T Ile153Ile
M0113673 KCHOKHNP_00029 34651 19 Skin 0.12 protein_coding synonymous_variant LOW 666T>C Ser222Ser
M0113674 KCHOKHNP_00029 34678 21 Skin 0.14 protein_coding synonymous_variant LOW 693C>T Ala231Ala
M0113675 KCHOKHNP_00036 41905 3 Skin 0.02 protein_coding missense_variant MODERATE 607G>A Asp203Asn
M0113676 KCHOKHNP_00036 42300 13 Skin 0.08 protein_coding synonymous_variant LOW 1002T>G Val334Val
M0113677 KCHOKHNP_00036 42333 17 Skin 0.11 protein_coding synonymous_variant LOW 1035T>C Ala345Ala
M0113678 KCHOKHNP_00032 42839 12 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -4286A>C None
M0113679 KCHOKHNP_00032 42905 13 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -4352A>G None
M0113680 KCHOKHNP_00032 42914 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4361G>A None
M0113681 KCHOKHNP_00032 42948 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4395A>G None
M0113682 KCHOKHNP_00032 42973 5 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4420T>C None
M0113683 KCHOKHNP_00037 43046 17 Skin 0.11 protein_coding synonymous_variant LOW 288C>T Ile96Ile
M0113684 KCHOKHNP_00037 43109 3 Skin 0.02 protein_coding synonymous_variant LOW 225C>T Thr75Thr
M0113685 KCHOKHNP_00037 43115 9 Skin 0.06 protein_coding synonymous_variant LOW 219C>T Val73Val
M0113686 KCHOKHNP_00037 43133 5 Skin 0.03 protein_coding synonymous_variant LOW 201A>G Glu67Glu
M0113687 KCHOKHNP_00037 43167 4 Skin 0.03 protein_coding missense_variant MODERATE 167A>G Gln56Arg
M0113688 KCHOKHNP_00037 43211 7 Skin 0.05 protein_coding synonymous_variant LOW 123A>G Val41Val
M0113689 KCHOKHNP_00037 43220 6 Skin 0.04 protein_coding synonymous_variant LOW 114G>A Gly38Gly
M0113690 KCHOKHNP_00022 25514 4 Skin 0.03 protein_coding synonymous_variant LOW 864T>C Phe288Phe
M0113691 KCHOKHNP_00022 25580 16 Skin 0.10 protein_coding synonymous_variant LOW 798C>T Gly266Gly
M0113692 KCHOKHNP_00018 26477 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4444G>A None
M0113693 KCHOKHNP_00023 27165 7 Skin 0.05 protein_coding missense_variant MODERATE 566C>G Ser189Cys
M0113694 KCHOKHNP_00023 27232 17 Skin 0.11 protein_coding synonymous_variant LOW 633C>T Leu211Leu
M0113695 KCHOKHNP_00023 27250 16 Skin 0.10 protein_coding synonymous_variant LOW 651G>A Leu217Leu
M0113696 KCHOKHNP_00024 29821 15 Skin 0.10 protein_coding synonymous_variant LOW 1674A>C Arg558Arg
M0113697 KCHOKHNP_00024 29825 10 Skin 0.06 protein_coding missense_variant MODERATE 1678C>A Gln560Lys
M0113698 KCHOKHNP_00024 30229 10 Skin 0.06 protein_coding synonymous_variant LOW 2082G>A Gly694Gly
M0113699 KCHOKHNP_00024 30259 15 Skin 0.10 protein_coding synonymous_variant LOW 2112G>A Ala704Ala
M0113700 KCHOKHNP_00024 30418 12 Skin 0.08 protein_coding missense_variant MODERATE 2271C>A Asp757Glu
M0113701 KCHOKHNP_00024 30448 12 Skin 0.08 protein_coding synonymous_variant LOW 2301C>A Ile767Ile
M0113702 KCHOKHNP_00022 30575 3 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4198T>A None
M0113703 KCHOKHNP_00025 30911 8 Skin 0.05 protein_coding synonymous_variant LOW 318A>G Glu106Glu
M0113704 KCHOKHNP_00025 31244 3 Skin 0.02 protein_coding missense_variant MODERATE 651T>G Asp217Glu
M0113705 KCHOKHNP_00026 32224 9 Skin 0.06 protein_coding synonymous_variant LOW 483T>C His161His
M0113706 KCHOKHNP_00026 32237 10 Skin 0.06 protein_coding missense_variant MODERATE 496A>G Lys166Glu
M0113707 KCHOKHNP_00026 32689 6 Skin 0.04 protein_coding synonymous_variant LOW 948A>G Leu316Leu
M0113708 KCHOKHNP_00027 32964 3 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -136T>G None
M0113709 KCHOKHNP_00027 33462 9 Skin 0.06 protein_coding synonymous_variant LOW 363G>A Arg121Arg
M0113710 KCHOKHNP_00029 34789 18 Skin 0.12 protein_coding synonymous_variant LOW 804C>A Ala268Ala
M0113711 KCHOKHNP_00029 34816 18 Skin 0.12 protein_coding synonymous_variant LOW 831C>T Val277Val
M0113712 KCHOKHNP_00029 35176 4 Skin 0.03 protein_coding synonymous_variant LOW 1191G>A Val397Val
M0113713 KCHOKHNP_00029 35350 5 Skin 0.03 protein_coding synonymous_variant LOW 1365T>A Ser455Ser
M0113714 KCHOKHNP_00030 35432 5 Skin 0.03 protein_coding synonymous_variant LOW 24T>C His8His
M0113715 KCHOKHNP_00030 35465 4 Skin 0.03 protein_coding synonymous_variant LOW 57A>G Leu19Leu
M0113716 KCHOKHNP_00030 35468 4 Skin 0.03 protein_coding synonymous_variant LOW 60C>A Gly20Gly
M0113717 KCHOKHNP_00030 35536 4 Skin 0.03 protein_coding missense_variant MODERATE 128T>G Leu43Trp
M0113718 KCHOKHNP_00030 35557 3 Skin 0.02 protein_coding missense_variant MODERATE 149C>A Thr50Asn
M0113719 KCHOKHNP_00030 35714 6 Skin 0.04 protein_coding synonymous_variant LOW 306C>G Pro102Pro
M0113720 KCHOKHNP_00036 36762 12 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -4537A>G None
M0113721 KCHOKHNP_00031 37138 13 Skin 0.08 protein_coding missense_variant MODERATE 373T>G Tyr125Asp
M0113722 KCHOKHNP_00031 37175 12 Skin 0.08 protein_coding synonymous_variant LOW 336A>G Lys112Lys
M0113723 KCHOKHNP_00031 37181 5 Skin 0.03 protein_coding missense_variant MODERATE 330G>T Glu110Asp
M0113724 KCHOKHNP_00032 37785 7 Skin 0.05 protein_coding missense_variant MODERATE 769A>T Met257Leu
M0113725 KCHOKHNP_00033 38985 22 Skin 0.14 protein_coding synonymous_variant LOW 582A>G Gln194Gln
M0113726 KCHOKHNP_00033 38991 22 Skin 0.14 protein_coding synonymous_variant LOW 576T>A Gly192Gly
M0113727 KCHOKHNP_00035 40788 6 Skin 0.04 protein_coding missense_variant MODERATE 270C>A Asp90Glu
M0113728 KCHOKHNP_00036 42034 5 Skin 0.03 protein_coding missense_variant MODERATE 736C>T His246Tyr
M0113729 KCHOKHNP_00037 43070 14 Skin 0.09 protein_coding synonymous_variant LOW 264A>G Lys88Lys
M0113730 KCHOKHNP_00037 43195 7 Skin 0.05 protein_coding missense_variant MODERATE 139G>A Val47Ile
M0113731 KCHOKHNP_00037 43280 3 Skin 0.02 protein_coding synonymous_variant LOW 54A>G Glu18Glu
M0113732 KCHOKHNP_00038 43338 10 Skin 0.06 protein_coding missense_variant MODERATE 304A>G Asn102Asp
M0113733 KCHOKHNP_00038 43369 4 Skin 0.03 protein_coding synonymous_variant LOW 273T>C Ala91Ala
M0113734 KCHOKHNP_00038 43498 8 Skin 0.05 protein_coding synonymous_variant LOW 144G>A Lys48Lys
M0113735 KCHOKHNP_00038 43519 10 Skin 0.06 protein_coding synonymous_variant LOW 123A>G Pro41Pro
M0113736 KCHOKHNP_00045 49318 5 Skin 0.03 protein_coding synonymous_variant LOW 459T>C Asp153Asp
M0113737 KCHOKHNP_00045 49361 18 Skin 0.12 protein_coding missense_variant MODERATE 502A>G Asn168Asp
M0113738 KCHOKHNP_00045 49374 18 Skin 0.12 protein_coding missense_variant MODERATE 515G>C Gly172Ala
M0113739 KCHOKHNP_00045 49433 6 Skin 0.04 protein_coding missense_variant MODERATE 574A>G Ile192Val
M0113740 KCHOKHNP_00045 49489 17 Skin 0.11 protein_coding synonymous_variant LOW 630T>C Asp210Asp
M0113741 KCHOKHNP_00045 50341 11 Skin 0.07 protein_coding synonymous_variant LOW 1482C>T Pro494Pro
M0113742 KCHOKHNP_00045 50495 16 Skin 0.10 protein_coding missense_variant MODERATE 1636A>G Asn546Asp
M0113743 KCHOKHNP_00045 50518 15 Skin 0.10 protein_coding synonymous_variant LOW 1659T>C Pro553Pro
M0113744 KCHOKHNP_00045 50545 16 Skin 0.10 protein_coding synonymous_variant LOW 1686T>C Phe562Phe
M0113745 KCHOKHNP_00045 50626 10 Skin 0.06 protein_coding synonymous_variant LOW 1767G>A Val589Val
M0113746 KCHOKHNP_00045 50659 16 Skin 0.10 protein_coding synonymous_variant LOW 1800G>A Lys600Lys
M0113747 KCHOKHNP_00045 50870 6 Skin 0.04 protein_coding synonymous_variant LOW 2011C>T Leu671Leu
M0113748 KCHOKHNP_00045 50947 8 Skin 0.05 protein_coding synonymous_variant LOW 2088T>A Ala696Ala
M0113749 KCHOKHNP_00045 50950 8 Skin 0.05 protein_coding synonymous_variant LOW 2091A>G Arg697Arg
M0113750 KCHOKHNP_00045 50953 8 Skin 0.05 protein_coding synonymous_variant LOW 2094C>T Ala698Ala
M0113751 KCHOKHNP_00045 50968 8 Skin 0.05 protein_coding synonymous_variant LOW 2109C>A Val703Val
M0113752 KCHOKHNP_00045 50971 8 Skin 0.05 protein_coding synonymous_variant LOW 2112A>C Val704Val
M0113753 KCHOKHNP_00045 50975 8 Skin 0.05 protein_coding missense_variant MODERATE 2116C>A Arg706Ser
M0113754 KCHOKHNP_00045 50977 8 Skin 0.05 protein_coding synonymous_variant LOW 2118T>A Arg706Arg
M0113755 KCHOKHNP_00045 50980 8 Skin 0.05 protein_coding synonymous_variant LOW 2121G>A Leu707Leu
M0113756 KCHOKHNP_00045 50983 8 Skin 0.05 protein_coding synonymous_variant LOW 2124C>A Leu708Leu
M0113757 KCHOKHNP_00045 50986 8 Skin 0.05 protein_coding synonymous_variant LOW 2127G>A Arg709Arg
M0113758 KCHOKHNP_00045 50995 8 Skin 0.05 protein_coding synonymous_variant LOW 2136T>C Gly712Gly
M0113759 KCHOKHNP_00045 51001 8 Skin 0.05 protein_coding synonymous_variant LOW 2142A>G Pro714Pro
M0113760 KCHOKHNP_00046 51156 16 Skin 0.10 protein_coding upstream_gene_variant MODIFIER -447T>G None
M0113761 KCHOKHNP_00046 51198 9 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -405C>T None
M0113762 KCHOKHNP_00046 51312 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -291A>G None
M0113763 KCHOKHNP_00046 51317 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -286A>G None
M0113764 KCHOKHNP_00046 51323 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -280C>T None
M0113765 KCHOKHNP_00010 12367 3 Skin 0.02 protein_coding synonymous_variant LOW 912C>T Asp304Asp
M0113766 KCHOKHNP_00010 12448 3 Skin 0.02 protein_coding synonymous_variant LOW 993A>G Thr331Thr
M0113767 KCHOKHNP_00010 12491 3 Skin 0.02 protein_coding missense_variant MODERATE 1036G>T Ala346Ser
M0113768 KCHOKHNP_00010 12494 3 Skin 0.02 protein_coding missense_variant MODERATE 1039C>T Pro347Ser
M0113769 KCHOKHNP_00010 12502 3 Skin 0.02 protein_coding synonymous_variant LOW 1047G>A Ser349Ser
M0113770 KCHOKHNP_00010 12503 3 Skin 0.02 protein_coding missense_variant MODERATE 1048A>G Ile350Val
M0113771 KCHOKHNP_00010 12652 3 Skin 0.02 protein_coding synonymous_variant LOW 1197T>C Thr399Thr
M0113772 KCHOKHNP_00010 12835 3 Skin 0.02 protein_coding synonymous_variant LOW 1380G>A Gly460Gly
M0113773 KCHOKHNP_00010 12837 3 Skin 0.02 protein_coding missense_variant MODERATE 1382C>T Ala461Val
M0113774 KCHOKHNP_00010 13087 3 Skin 0.02 protein_coding synonymous_variant LOW 1632C>T Asn544Asn
M0113775 KCHOKHNP_00010 13123 4 Skin 0.03 protein_coding synonymous_variant LOW 1668A>G Arg556Arg
M0113776 KCHOKHNP_00010 13124 4 Skin 0.03 protein_coding missense_variant MODERATE 1669G>T Val557Leu
M0113777 KCHOKHNP_00011 13822 7 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -232C>G None
M0113778 KCHOKHNP_00011 14176 8 Skin 0.05 protein_coding synonymous_variant LOW 123A>G Leu41Leu
M0113779 KCHOKHNP_00011 15035 7 Skin 0.05 protein_coding missense_variant MODERATE 982A>G Arg328Gly
M0113780 KCHOKHNP_00011 15070 5 Skin 0.03 protein_coding synonymous_variant LOW 1017G>A Gln339Gln
M0113781 KCHOKHNP_00012 15373 4 Skin 0.03 protein_coding synonymous_variant LOW 156A>G Leu52Leu
M0113782 KCHOKHNP_00034 44583 12 Skin 0.08 protein_coding upstream_gene_variant MODIFIER -4295C>T None
M0113783 KCHOKHNP_00034 44608 27 Skin 0.17 protein_coding upstream_gene_variant MODIFIER -4320C>A None
M0113784 KCHOKHNP_00034 44612 18 Skin 0.12 protein_coding upstream_gene_variant MODIFIER -4324G>C None
M0113785 KCHOKHNP_00034 44637 11 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -4349C>A None
M0113786 KCHOKHNP_00034 44689 8 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -4401C>T None
M0113787 KCHOKHNP_00034 44717 10 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4429G>A None
M0113788 KCHOKHNP_00040 45686 14 Skin 0.09 protein_coding synonymous_variant LOW 726C>A Ser242Ser
M0113789 KCHOKHNP_00040 45695 6 Skin 0.04 protein_coding synonymous_variant LOW 735C>T Val245Val
M0113790 KCHOKHNP_00040 45738 23 Skin 0.15 protein_coding synonymous_variant LOW 778C>T Leu260Leu
M0113791 KCHOKHNP_00041 45885 8 Skin 0.05 protein_coding missense_variant MODERATE 90T>G Asp30Glu
M0113792 KCHOKHNP_00041 45936 28 Skin 0.18 protein_coding synonymous_variant LOW 141C>T Pro47Pro
M0113793 KCHOKHNP_00041 45942 8 Skin 0.05 protein_coding synonymous_variant LOW 147G>A Gln49Gln
M0113794 KCHOKHNP_00041 45987 13 Skin 0.08 protein_coding synonymous_variant LOW 192A>G Glu64Glu
M0113795 KCHOKHNP_00041 46275 17 Skin 0.11 protein_coding synonymous_variant LOW 480C>T Asp160Asp
M0113796 KCHOKHNP_00041 46278 19 Skin 0.12 protein_coding synonymous_variant LOW 483C>T Arg161Arg
M0113797 KCHOKHNP_00041 46359 20 Skin 0.13 protein_coding synonymous_variant LOW 564A>G Leu188Leu
M0113798 KCHOKHNP_00041 46362 20 Skin 0.13 protein_coding synonymous_variant LOW 567C>T Ser189Ser
M0113799 KCHOKHNP_00041 46397 9 Skin 0.06 protein_coding missense_variant MODERATE 602A>G Asn201Ser
M0113800 KCHOKHNP_00041 46584 15 Skin 0.10 protein_coding synonymous_variant LOW 789A>C Gly263Gly
M0113801 KCHOKHNP_00042 47021 7 Skin 0.05 protein_coding missense_variant MODERATE 187A>G Ile63Val
M0113802 KCHOKHNP_00042 47305 4 Skin 0.03 protein_coding synonymous_variant LOW 471A>G Gln157Gln
M0113803 KCHOKHNP_00042 47368 10 Skin 0.06 protein_coding synonymous_variant LOW 534C>T Phe178Phe
M0113804 KCHOKHNP_00042 47389 6 Skin 0.04 protein_coding synonymous_variant LOW 555C>T Asp185Asp
M0113805 KCHOKHNP_00042 47395 8 Skin 0.05 protein_coding synonymous_variant LOW 561C>T Leu187Leu
M0113806 KCHOKHNP_00042 47399 14 Skin 0.09 protein_coding synonymous_variant LOW 565T>C Leu189Leu
M0113807 KCHOKHNP_00042 47409 3 Skin 0.02 protein_coding missense_variant MODERATE 575C>T Ala192Val
M0113808 KCHOKHNP_00042 47414 3 Skin 0.02 protein_coding missense_variant MODERATE 580C>T His194Tyr
M0113809 KCHOKHNP_00042 47434 3 Skin 0.02 protein_coding synonymous_variant LOW 600C>G Thr200Thr
M0113810 KCHOKHNP_00042 47436 3 Skin 0.02 protein_coding missense_variant MODERATE 602C>T Ala201Val
M0113811 KCHOKHNP_00042 47473 9 Skin 0.06 protein_coding synonymous_variant LOW 639A>G Leu213Leu
M0113812 KCHOKHNP_00042 47530 14 Skin 0.09 protein_coding synonymous_variant LOW 696T>C Asp232Asp
M0113813 KCHOKHNP_00042 47635 7 Skin 0.05 protein_coding missense_variant MODERATE 801C>A Phe267Leu
M0113814 KCHOKHNP_00042 47672 3 Skin 0.02 protein_coding missense_variant MODERATE 838C>A His280Asn
M0113815 KCHOKHNP_00042 47703 3 Skin 0.02 protein_coding missense_variant MODERATE 869G>C Cys290Ser
M0113816 KCHOKHNP_00045 50698 6 Skin 0.04 protein_coding synonymous_variant LOW 1839G>A Gln613Gln
M0113817 KCHOKHNP_00045 50740 3 Skin 0.02 protein_coding synonymous_variant LOW 1881T>C Ile627Ile
M0113818 KCHOKHNP_00046 51962 10 Skin 0.06 protein_coding synonymous_variant LOW 360G>T Ala120Ala
M0113819 KCHOKHNP_00046 52062 7 Skin 0.05 protein_coding synonymous_variant LOW 460T>C Leu154Leu
M0113820 KCHOKHNP_00046 52163 10 Skin 0.06 protein_coding synonymous_variant LOW 561T>G Ala187Ala
M0113821 KCHOKHNP_00047 52642 3 Skin 0.02 protein_coding missense_variant MODERATE 25C>A Leu9Ile
M0113822 KCHOKHNP_00047 52719 11 Skin 0.07 protein_coding synonymous_variant LOW 102G>C Gly34Gly
M0113823 KCHOKHNP_00047 53019 3 Skin 0.02 protein_coding synonymous_variant LOW 402T>C Thr134Thr
M0113824 KCHOKHNP_00057 58610 5 Skin 0.03 protein_coding synonymous_variant LOW 216C>G Ala72Ala
M0113825 KCHOKHNP_00020 23980 3 Skin 0.02 protein_coding missense_variant MODERATE 64C>T Leu22Phe
M0113826 KCHOKHNP_00020 23982 3 Skin 0.02 protein_coding synonymous_variant LOW 66T>G Leu22Leu
M0113827 KCHOKHNP_00020 24021 6 Skin 0.04 protein_coding synonymous_variant LOW 105T>C Thr35Thr
M0113828 KCHOKHNP_00020 24057 3 Skin 0.02 protein_coding synonymous_variant LOW 141A>G Leu47Leu
M0113829 KCHOKHNP_00020 24060 4 Skin 0.03 protein_coding synonymous_variant LOW 144G>A Thr48Thr
M0113830 KCHOKHNP_00020 24072 8 Skin 0.05 protein_coding synonymous_variant LOW 156G>C Gly52Gly
M0113831 KCHOKHNP_00020 24115 5 Skin 0.03 protein_coding synonymous_variant LOW 199A>C Arg67Arg
M0113832 KCHOKHNP_00020 24126 5 Skin 0.03 protein_coding synonymous_variant LOW 210C>T Arg70Arg
M0113833 KCHOKHNP_00020 24167 4 Skin 0.03 protein_coding missense_variant MODERATE 251C>T Thr84Met
M0113834 KCHOKHNP_00020 24169 5 Skin 0.03 protein_coding missense_variant MODERATE 253G>A Ala85Thr
M0113835 KCHOKHNP_00020 24195 4 Skin 0.03 protein_coding synonymous_variant LOW 279C>T Thr93Thr
M0113836 KCHOKHNP_00020 24210 7 Skin 0.05 protein_coding synonymous_variant LOW 294C>G Thr98Thr
M0113837 KCHOKHNP_00020 24213 4 Skin 0.03 protein_coding synonymous_variant LOW 297C>T Ser99Ser
M0113838 KCHOKHNP_00020 24216 4 Skin 0.03 protein_coding synonymous_variant LOW 300A>G Thr100Thr
M0113839 KCHOKHNP_00020 24399 4 Skin 0.03 protein_coding synonymous_variant LOW 483T>G Thr161Thr
M0113840 KCHOKHNP_00021 24720 5 Skin 0.03 protein_coding synonymous_variant LOW 60A>G Glu20Glu
M0113841 KCHOKHNP_00022 25660 4 Skin 0.03 protein_coding synonymous_variant LOW 718C>T Leu240Leu
M0113842 KCHOKHNP_00022 25901 3 Skin 0.02 protein_coding synonymous_variant LOW 477T>C Ala159Ala
M0113843 KCHOKHNP_00022 25910 5 Skin 0.03 protein_coding synonymous_variant LOW 468G>C Arg156Arg
M0113844 KCHOKHNP_00022 25940 4 Skin 0.03 protein_coding synonymous_variant LOW 438C>T Ser146Ser
M0113845 KCHOKHNP_00022 25943 4 Skin 0.03 protein_coding synonymous_variant LOW 435C>T Asp145Asp
M0113846 KCHOKHNP_00022 26008 4 Skin 0.03 protein_coding missense_variant MODERATE 370T>C Phe124Leu
M0113847 KCHOKHNP_00022 26059 6 Skin 0.04 protein_coding missense_variant MODERATE 319A>G Lys107Glu
M0113848 KCHOKHNP_00036 41421 3 Skin 0.02 protein_coding synonymous_variant LOW 123A>C Pro41Pro
M0113849 KCHOKHNP_00036 42240 17 Skin 0.11 protein_coding synonymous_variant LOW 942A>G Val314Val
M0113850 KCHOKHNP_00032 42894 7 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -4341G>A None
M0113851 KCHOKHNP_00032 42929 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4376C>A None
M0113852 KCHOKHNP_00032 42930 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4377T>C None
M0113853 KCHOKHNP_00032 42961 9 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4408A>G None
M0113854 KCHOKHNP_00032 42978 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4425G>A None
M0113855 KCHOKHNP_00032 42982 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4429G>T None
M0113856 KCHOKHNP_00034 44860 16 Skin 0.10 protein_coding upstream_gene_variant MODIFIER -4572C>T None
M0113857 KCHOKHNP_00034 44861 16 Skin 0.10 protein_coding upstream_gene_variant MODIFIER -4573T>C None
M0113858 KCHOKHNP_00034 44893 18 Skin 0.12 protein_coding upstream_gene_variant MODIFIER -4605T>G None
M0113859 KCHOKHNP_00034 44943 23 Skin 0.15 protein_coding upstream_gene_variant MODIFIER -4655C>T None
M0113860 KCHOKHNP_00034 44956 3 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4668G>T None
M0113861 KCHOKHNP_00040 45141 17 Skin 0.11 protein_coding missense_variant MODERATE 181G>A Val61Ile
M0113862 KCHOKHNP_00040 45659 7 Skin 0.05 protein_coding synonymous_variant LOW 699G>A Gln233Gln
M0113863 KCHOKHNP_00040 45665 5 Skin 0.03 protein_coding synonymous_variant LOW 705C>T Ser235Ser
M0113864 KCHOKHNP_00040 45668 5 Skin 0.03 protein_coding synonymous_variant LOW 708T>C Ile236Ile
M0113865 KCHOKHNP_00040 45671 5 Skin 0.03 protein_coding synonymous_variant LOW 711G>A Gln237Gln
M0113866 KCHOKHNP_00040 45673 5 Skin 0.03 protein_coding missense_variant MODERATE 713A>G Lys238Arg
M0113867 KCHOKHNP_00040 45677 5 Skin 0.03 protein_coding synonymous_variant LOW 717C>T Ile239Ile
M0113868 KCHOKHNP_00040 45684 5 Skin 0.03 protein_coding missense_variant MODERATE 724T>A Ser242Thr
M0113869 KCHOKHNP_00040 45692 6 Skin 0.04 protein_coding synonymous_variant LOW 732A>G Lys244Lys
M0113870 KCHOKHNP_00041 45964 18 Skin 0.12 protein_coding missense_variant MODERATE 169A>G Thr57Ala
M0113871 KCHOKHNP_00041 46311 15 Skin 0.10 protein_coding synonymous_variant LOW 516C>T Asp172Asp
M0113872 KCHOKHNP_00041 46593 6 Skin 0.04 protein_coding synonymous_variant LOW 798C>G Pro266Pro
M0113873 KCHOKHNP_00042 46972 16 Skin 0.10 protein_coding synonymous_variant LOW 138A>G Gly46Gly
M0113874 KCHOKHNP_00042 46976 16 Skin 0.10 protein_coding missense_variant MODERATE 142A>G Asn48Asp
M0113875 KCHOKHNP_00042 46981 16 Skin 0.10 protein_coding synonymous_variant LOW 147C>T Ile49Ile
M0113876 KCHOKHNP_00042 46982 10 Skin 0.06 protein_coding synonymous_variant LOW 148C>T Leu50Leu
M0113877 KCHOKHNP_00042 47179 16 Skin 0.10 protein_coding synonymous_variant LOW 345A>G Val115Val
M0113878 KCHOKHNP_00042 47182 16 Skin 0.10 protein_coding synonymous_variant LOW 348A>G Leu116Leu
M0113879 KCHOKHNP_00042 47215 11 Skin 0.07 protein_coding synonymous_variant LOW 381A>G Leu127Leu
M0113880 KCHOKHNP_00042 47326 12 Skin 0.08 protein_coding missense_variant MODERATE 492G>C Gln164His
M0113881 KCHOKHNP_00042 47397 6 Skin 0.04 protein_coding missense_variant MODERATE 563G>A Ser188Asn
M0113882 KCHOKHNP_00042 47419 10 Skin 0.06 protein_coding synonymous_variant LOW 585A>G Glu195Glu
M0113883 KCHOKHNP_00042 47458 13 Skin 0.08 protein_coding synonymous_variant LOW 624A>T Ala208Ala
M0113884 KCHOKHNP_00042 47527 8 Skin 0.05 protein_coding synonymous_variant LOW 693C>T Asp231Asp
M0113885 KCHOKHNP_00042 47648 5 Skin 0.03 protein_coding missense_variant MODERATE 814G>A Val272Ile
M0113886 KCHOKHNP_00037 47841 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4508G>A None
M0113887 KCHOKHNP_00043 47879 6 Skin 0.04 protein_coding missense_variant MODERATE 10G>A Val4Ile
M0113888 KCHOKHNP_00043 47895 12 Skin 0.08 protein_coding missense_variant MODERATE 26G>T Ser9Ile
M0113889 KCHOKHNP_00043 47920 7 Skin 0.05 protein_coding synonymous_variant LOW 51T>C Leu17Leu
M0113890 KCHOKHNP_00044 48461 8 Skin 0.05 protein_coding synonymous_variant LOW 393A>G Val131Val
M0113891 KCHOKHNP_00044 48494 6 Skin 0.04 protein_coding synonymous_variant LOW 426T>C Leu142Leu
M0113892 KCHOKHNP_00044 48521 6 Skin 0.04 protein_coding synonymous_variant LOW 453A>G Thr151Thr
M0113893 KCHOKHNP_00044 48805 8 Skin 0.05 protein_coding missense_variant MODERATE 737T>C Val246Ala
M0113894 KCHOKHNP_00045 49046 4 Skin 0.03 protein_coding missense_variant MODERATE 187G>A Gly63Ser
M0113895 KCHOKHNP_00045 49275 4 Skin 0.03 protein_coding missense_variant MODERATE 416C>T Ala139Val
M0113896 KCHOKHNP_00045 49501 4 Skin 0.03 protein_coding synonymous_variant LOW 642C>T Ala214Ala
M0113897 KCHOKHNP_00007 8549 3 Skin 0.02 protein_coding synonymous_variant LOW 1860T>C Asp620Asp
M0113898 KCHOKHNP_00007 8579 3 Skin 0.02 protein_coding synonymous_variant LOW 1890G>A Leu630Leu
M0113899 KCHOKHNP_00008 8617 3 Skin 0.02 protein_coding synonymous_variant LOW 9A>T Leu3Leu
M0113900 KCHOKHNP_00008 8618 3 Skin 0.02 protein_coding missense_variant MODERATE 10A>T Thr4Ser
M0113901 KCHOKHNP_00008 8625 5 Skin 0.03 protein_coding missense_variant MODERATE 17T>C Leu6Pro
M0113902 KCHOKHNP_00008 8668 4 Skin 0.03 protein_coding missense_variant MODERATE 60C>A His20Gln
M0113903 KCHOKHNP_00008 8750 6 Skin 0.04 protein_coding synonymous_variant LOW 142C>T Leu48Leu
M0113904 KCHOKHNP_00008 8796 4 Skin 0.03 protein_coding missense_variant MODERATE 188G>T Ser63Ile
M0113905 KCHOKHNP_00008 8955 6 Skin 0.04 protein_coding missense_variant MODERATE 347C>A Pro116His
M0113906 KCHOKHNP_00008 8984 7 Skin 0.05 protein_coding missense_variant MODERATE 376T>G Leu126Val
M0113907 KCHOKHNP_00008 8989 7 Skin 0.05 protein_coding synonymous_variant LOW 381C>T Val127Val
M0113908 KCHOKHNP_00008 9002 7 Skin 0.05 protein_coding missense_variant MODERATE 394G>A Gly132Ser
M0113909 KCHOKHNP_00008 9004 7 Skin 0.05 protein_coding synonymous_variant LOW 396T>C Gly132Gly
M0113910 KCHOKHNP_00008 9008 7 Skin 0.05 protein_coding missense_variant MODERATE 400A>G Ser134Gly
M0113911 KCHOKHNP_00008 9066 8 Skin 0.05 protein_coding missense_variant MODERATE 458T>C Ile153Thr
M0113912 KCHOKHNP_00008 9103 9 Skin 0.06 protein_coding synonymous_variant LOW 495A>G Gly165Gly
M0113913 KCHOKHNP_00008 9130 8 Skin 0.05 protein_coding synonymous_variant LOW 522T>C Ser174Ser
M0113914 KCHOKHNP_00008 9249 8 Skin 0.05 protein_coding missense_variant MODERATE 641A>C Asp214Ala
M0113915 KCHOKHNP_00008 9463 7 Skin 0.05 protein_coding synonymous_variant LOW 855C>T Thr285Thr
M0113916 KCHOKHNP_00008 9799 8 Skin 0.05 protein_coding synonymous_variant LOW 1191A>C Ile397Ile
M0113917 KCHOKHNP_00008 10118 5 Skin 0.03 protein_coding missense_variant MODERATE 1510G>T Ala504Ser
M0113918 KCHOKHNP_00008 10214 4 Skin 0.03 protein_coding missense_variant MODERATE 1606G>A Glu536Lys
M0113919 KCHOKHNP_00008 10387 8 Skin 0.05 protein_coding synonymous_variant LOW 1779A>G Leu593Leu
M0113920 KCHOKHNP_00008 10560 3 Skin 0.02 protein_coding missense_variant MODERATE 1952A>C Asn651Thr
M0113921 KCHOKHNP_00009 10810 3 Skin 0.02 protein_coding synonymous_variant LOW 102G>T Pro34Pro
M0113922 KCHOKHNP_00009 10852 8 Skin 0.05 protein_coding synonymous_variant LOW 144A>C Thr48Thr
M0113923 KCHOKHNP_00009 10972 4 Skin 0.03 protein_coding synonymous_variant LOW 264G>A Leu88Leu
M0113924 KCHOKHNP_00009 11184 3 Skin 0.02 protein_coding missense_variant MODERATE 476A>C Asp159Ala
M0113925 KCHOKHNP_00009 11278 7 Skin 0.05 protein_coding missense_variant MODERATE 570T>G Phe190Leu
M0113926 KCHOKHNP_00033 44384 9 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4818C>T None
M0113927 KCHOKHNP_00033 44446 9 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4880A>G None
M0113928 KCHOKHNP_00033 44448 9 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4882G>T None
M0113929 KCHOKHNP_00033 44451 10 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4885A>T None
M0113930 KCHOKHNP_00033 44460 10 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4894A>G None
M0113931 KCHOKHNP_00033 44476 10 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4910A>T None
M0113932 KCHOKHNP_00033 44480 10 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4914C>G None
M0113933 KCHOKHNP_00033 44482 10 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4916A>C None
M0113934 KCHOKHNP_00033 44489 10 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4923G>T None
M0113935 KCHOKHNP_00033 44490 10 Skin 0.06 protein_coding upstream_gene_variant MODIFIER -4924A>G None
M0113936 KCHOKHNP_00034 44577 16 Skin 0.10 protein_coding upstream_gene_variant MODIFIER -4289T>C None
M0113937 KCHOKHNP_00034 44587 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4299T>C None
M0113938 KCHOKHNP_00034 44588 11 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -4300C>T None
M0113939 KCHOKHNP_00034 44599 11 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -4311A>C None
M0113940 KCHOKHNP_00034 44842 7 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -4554C>T None
M0113941 KCHOKHNP_00034 44880 7 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -4592G>A None
M0113942 KCHOKHNP_00040 45774 10 Skin 0.06 protein_coding missense_variant MODERATE 814C>G Gln272Glu
M0113943 KCHOKHNP_00041 46257 9 Skin 0.06 protein_coding synonymous_variant LOW 462T>C Ala154Ala
M0113944 KCHOKHNP_00037 46829 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -3496A>G None
M0113945 KCHOKHNP_00042 46846 6 Skin 0.04 protein_coding synonymous_variant LOW 12C>T Thr4Thr
M0113946 KCHOKHNP_00042 47428 3 Skin 0.02 protein_coding synonymous_variant LOW 594A>G Leu198Leu
M0113947 KCHOKHNP_00037 43067 4 Skin 0.03 protein_coding synonymous_variant LOW 267G>A Ala89Ala
M0113948 KCHOKHNP_00037 43292 3 Skin 0.02 protein_coding missense_variant MODERATE 42G>C Leu14Phe
M0113949 KCHOKHNP_00020 23958 4 Skin 0.03 protein_coding synonymous_variant LOW 42G>A Lys14Lys
M0113950 KCHOKHNP_00020 24000 6 Skin 0.04 protein_coding synonymous_variant LOW 84T>C Tyr28Tyr
M0113951 KCHOKHNP_00020 24039 5 Skin 0.03 protein_coding synonymous_variant LOW 123A>G Val41Val
M0113952 KCHOKHNP_00020 24159 6 Skin 0.04 protein_coding synonymous_variant LOW 243A>G Gln81Gln
M0113953 KCHOKHNP_00020 24222 3 Skin 0.02 protein_coding synonymous_variant LOW 306C>A Ala102Ala
M0113954 KCHOKHNP_00016 24913 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4910G>A None
M0113955 KCHOKHNP_00016 24917 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4914T>A None
M0113956 KCHOKHNP_00016 24919 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4916A>G None
M0113957 KCHOKHNP_00016 24926 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4923A>G None
M0113958 KCHOKHNP_00016 24927 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4924C>T None
M0113959 KCHOKHNP_00016 24929 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4926C>T None
M0113960 KCHOKHNP_00016 24959 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4956T>C None
M0113961 KCHOKHNP_00016 24969 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4966G>A None
M0113962 KCHOKHNP_00022 26287 4 Skin 0.03 protein_coding missense_variant MODERATE 91A>G Asn31Asp
M0113963 KCHOKHNP_00018 26502 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4469C>T None
M0113964 KCHOKHNP_00018 26515 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4482T>C None
M0113965 KCHOKHNP_00023 26758 4 Skin 0.03 protein_coding synonymous_variant LOW 159C>T Gly53Gly
M0113966 KCHOKHNP_00023 27055 6 Skin 0.04 protein_coding synonymous_variant LOW 456C>T Gly152Gly
M0113967 KCHOKHNP_00023 27544 3 Skin 0.02 protein_coding synonymous_variant LOW 945A>G Pro315Pro
M0113968 KCHOKHNP_00023 27712 3 Skin 0.02 protein_coding synonymous_variant LOW 1113C>T Asn371Asn
M0113969 KCHOKHNP_00023 28056 4 Skin 0.03 protein_coding missense_variant MODERATE 1457A>T Asp486Val
M0113970 KCHOKHNP_00024 28380 5 Skin 0.03 protein_coding missense_variant MODERATE 233T>C Ile78Thr
M0113971 KCHOKHNP_00024 29464 16 Skin 0.10 protein_coding synonymous_variant LOW 1317G>A Arg439Arg
M0113972 KCHOKHNP_00024 29494 16 Skin 0.10 protein_coding synonymous_variant LOW 1347T>C Ser449Ser
M0113973 KCHOKHNP_00025 31216 15 Skin 0.10 protein_coding missense_variant MODERATE 623C>T Ala208Val
M0113974 KCHOKHNP_00028 33607 4 Skin 0.03 protein_coding missense_variant MODERATE 8C>T Thr3Ile
M0113975 KCHOKHNP_00029 34833 12 Skin 0.08 protein_coding missense_variant MODERATE 848G>C Gly283Ala
M0113976 KCHOKHNP_00030 35610 14 Skin 0.09 protein_coding missense_variant MODERATE 202G>A Gly68Ser
M0113977 KCHOKHNP_00032 38314 3 Skin 0.02 protein_coding synonymous_variant LOW 240G>A Leu80Leu
M0113978 KCHOKHNP_00033 39306 3 Skin 0.02 protein_coding synonymous_variant LOW 261G>A Glu87Glu
M0113979 KCHOKHNP_00033 39321 3 Skin 0.02 protein_coding synonymous_variant LOW 246A>G Val82Val
M0113980 KCHOKHNP_00033 39366 3 Skin 0.02 protein_coding synonymous_variant LOW 201G>A Ser67Ser
M0113981 KCHOKHNP_00033 39390 3 Skin 0.02 protein_coding synonymous_variant LOW 177C>T Asp59Asp
M0113982 KCHOKHNP_00033 39393 3 Skin 0.02 protein_coding synonymous_variant LOW 174T>C Gly58Gly
M0113983 KCHOKHNP_00034 40145 4 Skin 0.03 protein_coding synonymous_variant LOW 144T>C Arg48Arg
M0113984 KCHOKHNP_00036 41688 12 Skin 0.08 protein_coding synonymous_variant LOW 390G>A Gly130Gly
M0113985 KCHOKHNP_00038 43585 6 Skin 0.04 protein_coding synonymous_variant LOW 57C>T Thr19Thr
M0113986 KCHOKHNP_00038 43607 9 Skin 0.06 protein_coding missense_variant MODERATE 35G>A Arg12Lys
M0113987 KCHOKHNP_00038 43615 7 Skin 0.05 protein_coding synonymous_variant LOW 27G>A Leu9Leu
M0113988 KCHOKHNP_00038 43627 4 Skin 0.03 protein_coding synonymous_variant LOW 15T>C Val5Val
M0113989 KCHOKHNP_00033 43666 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4100T>C None
M0113990 KCHOKHNP_00031 37199 7 Skin 0.05 protein_coding synonymous_variant LOW 312T>G Val104Val
M0113991 KCHOKHNP_00038 43564 5 Skin 0.03 protein_coding synonymous_variant LOW 78C>G Leu26Leu
M0113992 KCHOKHNP_00045 49153 10 Skin 0.06 protein_coding synonymous_variant LOW 294A>G Ala98Ala
M0113993 KCHOKHNP_00045 49594 9 Skin 0.06 protein_coding synonymous_variant LOW 735T>C His245His
M0113994 KCHOKHNP_00045 49606 8 Skin 0.05 protein_coding synonymous_variant LOW 747C>G Arg249Arg
M0113995 KCHOKHNP_00045 49758 4 Skin 0.03 protein_coding missense_variant MODERATE 899C>T Ser300Leu
M0113996 KCHOKHNP_00045 49765 13 Skin 0.08 protein_coding synonymous_variant LOW 906A>C Ala302Ala
M0113997 KCHOKHNP_00045 49786 4 Skin 0.03 protein_coding missense_variant MODERATE 927G>C Lys309Asn
M0113998 KCHOKHNP_00045 49822 10 Skin 0.06 protein_coding synonymous_variant LOW 963C>A Ala321Ala
M0113999 KCHOKHNP_00045 49835 11 Skin 0.07 protein_coding missense_variant MODERATE 976T>G Tyr326Asp
M0114000 KCHOKHNP_00045 49852 8 Skin 0.05 protein_coding synonymous_variant LOW 993C>T Leu331Leu
M0114001 KCHOKHNP_00045 49870 4 Skin 0.03 protein_coding synonymous_variant LOW 1011G>C Arg337Arg
M0114002 KCHOKHNP_00046 51257 5 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -346T>C None
M0114003 KCHOKHNP_00046 51268 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -335G>A None
M0114004 KCHOKHNP_00046 51273 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -330G>A None
M0114005 KCHOKHNP_00046 52346 4 Skin 0.03 protein_coding synonymous_variant LOW 744C>T Thr248Thr
M0114006 KCHOKHNP_00047 52684 8 Skin 0.05 protein_coding missense_variant MODERATE 67G>C Ala23Pro
M0114007 KCHOKHNP_00058 59413 5 Skin 0.03 protein_coding synonymous_variant LOW 774G>C Ser258Ser
M0114008 KCHOKHNP_00058 59416 5 Skin 0.03 protein_coding synonymous_variant LOW 771T>C Arg257Arg
M0114009 KCHOKHNP_00040 45101 14 Skin 0.09 protein_coding synonymous_variant LOW 141T>C Ala47Ala
M0114010 KCHOKHNP_00040 45257 5 Skin 0.03 protein_coding synonymous_variant LOW 297C>T Gly99Gly
M0114011 KCHOKHNP_00040 45317 3 Skin 0.02 protein_coding synonymous_variant LOW 357A>G Lys119Lys
M0114012 KCHOKHNP_00040 45584 5 Skin 0.03 protein_coding synonymous_variant LOW 624C>T Ala208Ala
M0114013 KCHOKHNP_00041 46155 8 Skin 0.05 protein_coding synonymous_variant LOW 360A>G Leu120Leu
M0114014 KCHOKHNP_00042 47101 13 Skin 0.08 protein_coding synonymous_variant LOW 267T>C Arg89Arg
M0114015 KCHOKHNP_00018 21071 3 Skin 0.02 protein_coding synonymous_variant LOW 963G>A Leu321Leu
M0114016 KCHOKHNP_00018 21115 6 Skin 0.04 protein_coding missense_variant MODERATE 919T>A Tyr307Asn
M0114017 KCHOKHNP_00018 21122 4 Skin 0.03 protein_coding synonymous_variant LOW 912G>T Thr304Thr
M0114018 KCHOKHNP_00018 21123 4 Skin 0.03 protein_coding missense_variant MODERATE 911C>G Thr304Arg
M0114019 KCHOKHNP_00018 21124 4 Skin 0.03 protein_coding missense_variant MODERATE 910A>C Thr304Pro
M0114020 KCHOKHNP_00015 22039 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -2305T>C None
M0114021 KCHOKHNP_00015 22043 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -2309C>T None
M0114022 KCHOKHNP_00015 22044 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -2310G>A None
M0114023 KCHOKHNP_00019 22303 3 Skin 0.02 protein_coding synonymous_variant LOW 1026A>G Leu342Leu
M0114024 KCHOKHNP_00019 22366 4 Skin 0.03 protein_coding synonymous_variant LOW 963A>G Leu321Leu
M0114025 KCHOKHNP_00019 22368 4 Skin 0.03 protein_coding synonymous_variant LOW 961T>C Leu321Leu
M0114026 KCHOKHNP_00019 22369 4 Skin 0.03 protein_coding synonymous_variant LOW 960C>A Thr320Thr
M0114027 KCHOKHNP_00019 22433 6 Skin 0.04 protein_coding missense_variant MODERATE 896C>A Ala299Glu
M0114028 KCHOKHNP_00019 22492 3 Skin 0.02 protein_coding synonymous_variant LOW 837G>C Thr279Thr
M0114029 KCHOKHNP_00019 22678 3 Skin 0.02 protein_coding synonymous_variant LOW 651A>C Val217Val
M0114030 KCHOKHNP_00042 46865 9 Skin 0.06 protein_coding missense_variant MODERATE 31A>G Ser11Gly
M0114031 KCHOKHNP_00033 44519 20 Skin 0.13 protein_coding upstream_gene_variant MODIFIER -4953T>G None
M0114032 KCHOKHNP_00034 44568 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4280A>C None
M0114033 KCHOKHNP_00034 44586 5 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4298A>G None
M0114034 KCHOKHNP_00034 44628 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4340C>A None
M0114035 KCHOKHNP_00034 44657 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4369G>A None
M0114036 KCHOKHNP_00034 44756 7 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -4468A>G None
M0114037 KCHOKHNP_00041 46215 5 Skin 0.03 protein_coding synonymous_variant LOW 420G>C Leu140Leu
M0114038 KCHOKHNP_00042 47205 4 Skin 0.03 protein_coding missense_variant MODERATE 371A>T Glu124Val
M0114039 KCHOKHNP_00042 47260 3 Skin 0.02 protein_coding synonymous_variant LOW 426C>A Val142Val
M0114040 KCHOKHNP_00042 47263 3 Skin 0.02 protein_coding synonymous_variant LOW 429A>G Leu143Leu
M0114041 KCHOKHNP_00037 46810 3 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -3477G>C None
M0114042 KCHOKHNP_00042 47716 9 Skin 0.06 protein_coding synonymous_variant LOW 882C>T Asn294Asn
M0114043 KCHOKHNP_00043 47899 6 Skin 0.04 protein_coding synonymous_variant LOW 30A>G Glu10Glu
M0114044 KCHOKHNP_00043 47947 13 Skin 0.08 protein_coding synonymous_variant LOW 78T>C Tyr26Tyr
M0114045 KCHOKHNP_00043 47968 13 Skin 0.08 protein_coding synonymous_variant LOW 99T>C Tyr33Tyr
M0114046 KCHOKHNP_00043 47975 12 Skin 0.08 protein_coding missense_variant MODERATE 106G>A Glu36Lys
M0114047 KCHOKHNP_00043 47980 11 Skin 0.07 protein_coding synonymous_variant LOW 111C>G Pro37Pro
M0114048 KCHOKHNP_00043 48011 5 Skin 0.03 protein_coding missense_variant MODERATE 142G>A Asp48Asn
M0114049 KCHOKHNP_00043 48022 7 Skin 0.05 protein_coding synonymous_variant LOW 153A>G Leu51Leu
M0114050 KCHOKHNP_00043 48041 13 Skin 0.08 protein_coding missense_variant MODERATE 172G>A Asp58Asn
M0114051 KCHOKHNP_00029 34807 12 Skin 0.08 protein_coding synonymous_variant LOW 822C>T Gly274Gly
M0114052 KCHOKHNP_00030 35736 11 Skin 0.07 protein_coding missense_variant MODERATE 328G>A Val110Ile
M0114053 KCHOKHNP_00031 37043 10 Skin 0.06 protein_coding synonymous_variant LOW 468T>C Gly156Gly
M0114054 KCHOKHNP_00031 37394 4 Skin 0.03 protein_coding synonymous_variant LOW 117C>G Arg39Arg
M0114055 KCHOKHNP_00031 37430 3 Skin 0.02 protein_coding synonymous_variant LOW 81G>A Glu27Glu
M0114056 KCHOKHNP_00020 24003 5 Skin 0.03 protein_coding synonymous_variant LOW 87C>T Gly29Gly
M0114057 KCHOKHNP_00020 24258 5 Skin 0.03 protein_coding synonymous_variant LOW 342T>G Gly114Gly
M0114058 KCHOKHNP_00022 25535 12 Skin 0.08 protein_coding synonymous_variant LOW 843C>T Asp281Asp
M0114059 KCHOKHNP_00022 25568 10 Skin 0.06 protein_coding synonymous_variant LOW 810G>A Gln270Gln
M0114060 KCHOKHNP_00024 28645 3 Skin 0.02 protein_coding synonymous_variant LOW 498C>T Ala166Ala
M0114061 KCHOKHNP_00025 30930 10 Skin 0.06 protein_coding missense_variant MODERATE 337A>G Ile113Val
M0114062 KCHOKHNP_00025 30941 11 Skin 0.07 protein_coding synonymous_variant LOW 348T>C Phe116Phe
M0114063 KCHOKHNP_00025 30950 11 Skin 0.07 protein_coding missense_variant MODERATE 357T>G Phe119Leu
M0114064 KCHOKHNP_00025 30954 11 Skin 0.07 protein_coding missense_variant MODERATE 361T>C Tyr121His
M0114065 KCHOKHNP_00025 30962 8 Skin 0.05 protein_coding synonymous_variant LOW 369C>T Thr123Thr
M0114066 KCHOKHNP_00025 31116 6 Skin 0.04 protein_coding missense_variant MODERATE 523C>A Gln175Lys
M0114067 KCHOKHNP_00025 31143 6 Skin 0.04 protein_coding missense_variant MODERATE 550C>A Arg184Ser
M0114068 KCHOKHNP_00025 31615 4 Skin 0.03 protein_coding missense_variant MODERATE 1022T>C Leu341Pro
M0114069 KCHOKHNP_00026 31930 4 Skin 0.03 protein_coding synonymous_variant LOW 189C>A Ala63Ala
M0114070 KCHOKHNP_00026 32525 4 Skin 0.03 protein_coding missense_variant MODERATE 784C>G Pro262Ala
M0114071 KCHOKHNP_00027 33010 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -90A>G None
M0114072 KCHOKHNP_00027 33468 6 Skin 0.04 protein_coding synonymous_variant LOW 369A>G Leu123Leu
M0114073 KCHOKHNP_00029 34309 5 Skin 0.03 protein_coding synonymous_variant LOW 324A>G Leu108Leu
M0114074 KCHOKHNP_00030 36319 4 Skin 0.03 protein_coding missense_variant MODERATE 911G>A Ser304Asn
M0114075 KCHOKHNP_00030 36413 3 Skin 0.02 protein_coding synonymous_variant LOW 1005T>C Thr335Thr
M0114076 KCHOKHNP_00030 36422 3 Skin 0.02 protein_coding synonymous_variant LOW 1014T>C Ser338Ser
M0114077 KCHOKHNP_00032 38068 3 Skin 0.02 protein_coding synonymous_variant LOW 486C>A Arg162Arg
M0114078 KCHOKHNP_00036 42174 3 Skin 0.02 protein_coding synonymous_variant LOW 876G>C Gly292Gly
M0114079 KCHOKHNP_00008 8645 3 Skin 0.02 protein_coding missense_variant MODERATE 37C>A Pro13Thr
M0114080 KCHOKHNP_00008 8842 4 Skin 0.03 protein_coding synonymous_variant LOW 234A>C Ser78Ser
M0114081 KCHOKHNP_00008 9051 3 Skin 0.02 protein_coding missense_variant MODERATE 443G>A Cys148Tyr
M0114082 KCHOKHNP_00008 9519 3 Skin 0.02 protein_coding missense_variant MODERATE 911G>A Cys304Tyr
M0114083 KCHOKHNP_00008 9521 3 Skin 0.02 protein_coding missense_variant MODERATE 913G>A Glu305Lys
M0114084 KCHOKHNP_00008 9946 4 Skin 0.03 protein_coding synonymous_variant LOW 1338A>G Gln446Gln
M0114085 KCHOKHNP_00008 10021 3 Skin 0.02 protein_coding synonymous_variant LOW 1413G>A Leu471Leu
M0114086 KCHOKHNP_00008 10039 4 Skin 0.03 protein_coding synonymous_variant LOW 1431T>C Asp477Asp
M0114087 KCHOKHNP_00008 10054 3 Skin 0.02 protein_coding synonymous_variant LOW 1446C>T Asp482Asp
M0114088 KCHOKHNP_00008 10114 4 Skin 0.03 protein_coding synonymous_variant LOW 1506G>A Ala502Ala
M0114089 KCHOKHNP_00008 10219 3 Skin 0.02 protein_coding synonymous_variant LOW 1611G>A Gln537Gln
M0114090 KCHOKHNP_00008 10243 3 Skin 0.02 protein_coding synonymous_variant LOW 1635A>G Leu545Leu
M0114091 KCHOKHNP_00008 10393 5 Skin 0.03 protein_coding synonymous_variant LOW 1785T>C Ile595Ile
M0114092 KCHOKHNP_00008 10535 5 Skin 0.03 protein_coding missense_variant MODERATE 1927G>A Val643Ile
M0114093 KCHOKHNP_00008 10642 4 Skin 0.03 protein_coding missense_variant MODERATE 2034G>C Leu678Phe
M0114094 KCHOKHNP_00010 11393 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -63A>G None
M0114095 KCHOKHNP_00010 11400 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -56C>T None
M0114096 KCHOKHNP_00010 11410 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -46C>T None
M0114097 KCHOKHNP_00010 11518 6 Skin 0.04 protein_coding synonymous_variant LOW 63C>T Ala21Ala
M0114098 KCHOKHNP_00010 11869 3 Skin 0.02 protein_coding synonymous_variant LOW 414G>A Lys138Lys
M0114099 KCHOKHNP_00010 13198 4 Skin 0.03 protein_coding synonymous_variant LOW 1743A>G Glu581Glu
M0114100 KCHOKHNP_00011 14095 7 Skin 0.05 protein_coding synonymous_variant LOW 42T>C Ile14Ile
M0114101 KCHOKHNP_00011 14233 6 Skin 0.04 protein_coding synonymous_variant LOW 180C>T Phe60Phe
M0114102 KCHOKHNP_00013 16467 4 Skin 0.03 protein_coding synonymous_variant LOW 489G>A Gln163Gln
M0114103 KCHOKHNP_00013 16932 5 Skin 0.03 protein_coding synonymous_variant LOW 954A>G Thr318Thr
M0114104 KCHOKHNP_00014 17216 3 Skin 0.02 protein_coding synonymous_variant LOW 210A>G Leu70Leu
M0114105 KCHOKHNP_00014 18704 4 Skin 0.03 protein_coding synonymous_variant LOW 1698A>G Gly566Gly
M0114106 KCHOKHNP_00040 45768 6 Skin 0.04 protein_coding missense_variant MODERATE 808G>A Glu270Lys
M0114107 KCHOKHNP_00040 45776 10 Skin 0.06 protein_coding missense_variant MODERATE 816G>T Gln272His
M0114108 KCHOKHNP_00042 47204 11 Skin 0.07 protein_coding missense_variant MODERATE 370G>A Glu124Lys
M0114109 KCHOKHNP_00033 44486 11 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -4920T>C None
M0114110 KCHOKHNP_00033 44508 7 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -4942C>T None
M0114111 KCHOKHNP_00045 49363 3 Skin 0.02 protein_coding synonymous_variant LOW 504C>T Asn168Asn
M0114112 KCHOKHNP_00046 51738 5 Skin 0.03 protein_coding synonymous_variant LOW 136C>T Leu46Leu
M0114113 KCHOKHNP_00046 51767 4 Skin 0.03 protein_coding synonymous_variant LOW 165T>C Ser55Ser
M0114114 KCHOKHNP_00046 52145 3 Skin 0.02 protein_coding synonymous_variant LOW 543G>A Leu181Leu
M0114115 KCHOKHNP_00046 52202 8 Skin 0.05 protein_coding synonymous_variant LOW 600G>A Ala200Ala
M0114116 KCHOKHNP_00057 58583 4 Skin 0.03 protein_coding synonymous_variant LOW 243A>G Pro81Pro
M0114117 KCHOKHNP_00057 58590 4 Skin 0.03 protein_coding missense_variant MODERATE 236G>A Gly79Asp
M0114118 KCHOKHNP_00024 30556 5 Skin 0.03 protein_coding missense_variant MODERATE 2409T>A His803Gln
M0114119 KCHOKHNP_00024 30570 4 Skin 0.03 protein_coding stop_lost&splice_region_variant HIGH 2423A>C Ter808Serext*?
M0114120 KCHOKHNP_00022 30585 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4208A>G None
M0114121 KCHOKHNP_00025 30636 4 Skin 0.03 protein_coding stop_gained HIGH 43C>T Gln15*
M0114122 KCHOKHNP_00025 30638 4 Skin 0.03 protein_coding missense_variant MODERATE 45G>T Gln15His
M0114123 KCHOKHNP_00025 30639 4 Skin 0.03 protein_coding missense_variant MODERATE 46A>G Asn16Asp
M0114124 KCHOKHNP_00025 30640 4 Skin 0.03 protein_coding missense_variant MODERATE 47A>G Asn16Ser
M0114125 KCHOKHNP_00025 30643 4 Skin 0.03 protein_coding missense_variant MODERATE 50G>A Ser17Asn
M0114126 KCHOKHNP_00026 32236 7 Skin 0.05 protein_coding synonymous_variant LOW 495T>C Arg165Arg
M0114127 KCHOKHNP_00020 23988 3 Skin 0.02 protein_coding synonymous_variant LOW 72T>G Ala24Ala
M0114128 KCHOKHNP_00020 23991 3 Skin 0.02 protein_coding synonymous_variant LOW 75G>A Leu25Leu
M0114129 KCHOKHNP_00020 24028 5 Skin 0.03 protein_coding missense_variant MODERATE 112C>A Leu38Ile
M0114130 KCHOKHNP_00020 24030 4 Skin 0.03 protein_coding synonymous_variant LOW 114A>G Leu38Leu
M0114131 KCHOKHNP_00021 24764 3 Skin 0.02 protein_coding missense_variant MODERATE 104T>C Ile35Thr
M0114132 KCHOKHNP_00013 16101 3 Skin 0.02 protein_coding synonymous_variant LOW 123T>C Arg41Arg
M0114133 KCHOKHNP_00013 16106 3 Skin 0.02 protein_coding missense_variant MODERATE 128C>T Thr43Met
M0114134 KCHOKHNP_00013 16194 3 Skin 0.02 protein_coding synonymous_variant LOW 216G>A Pro72Pro
M0114135 KCHOKHNP_00013 16920 4 Skin 0.03 protein_coding missense_variant MODERATE 942A>C Gln314His
M0114136 KCHOKHNP_00031 41184 11 Skin 0.07 protein_coding upstream_gene_variant MODIFIER -3674T>C None
M0114137 KCHOKHNP_00015 22080 3 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -2346G>A None
M0114138 KCHOKHNP_00015 22095 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -2361T>C None
M0114139 KCHOKHNP_00019 22577 4 Skin 0.03 protein_coding missense_variant MODERATE 752A>G Asn251Ser
M0114140 KCHOKHNP_00019 22627 4 Skin 0.03 protein_coding synonymous_variant LOW 702T>C Ile234Ile
M0114141 KCHOKHNP_00019 22762 3 Skin 0.02 protein_coding synonymous_variant LOW 567T>C Ile189Ile
M0114142 KCHOKHNP_00019 22765 3 Skin 0.02 protein_coding synonymous_variant LOW 564T>C Thr188Thr
M0114143 KCHOKHNP_00019 22774 3 Skin 0.02 protein_coding synonymous_variant LOW 555G>A Leu185Leu
M0114144 KCHOKHNP_00019 22881 3 Skin 0.02 protein_coding synonymous_variant LOW 448C>T Leu150Leu
M0114145 KCHOKHNP_00019 22883 3 Skin 0.02 protein_coding missense_variant MODERATE 446A>T Tyr149Phe
M0114146 KCHOKHNP_00019 22909 4 Skin 0.03 protein_coding missense_variant MODERATE 420G>C Lys140Asn
M0114147 KCHOKHNP_00019 22924 4 Skin 0.03 protein_coding synonymous_variant LOW 405T>C Arg135Arg
M0114148 KCHOKHNP_00019 22966 6 Skin 0.04 protein_coding synonymous_variant LOW 363A>G Ala121Ala
M0114149 KCHOKHNP_00019 23140 3 Skin 0.02 protein_coding synonymous_variant LOW 189G>A Gln63Gln
M0114150 KCHOKHNP_00019 23143 3 Skin 0.02 protein_coding synonymous_variant LOW 186C>T Tyr62Tyr
M0114151 KCHOKHNP_00019 23146 4 Skin 0.03 protein_coding missense_variant MODERATE 183T>G Asp61Glu
M0114152 KCHOKHNP_00019 23152 3 Skin 0.02 protein_coding synonymous_variant LOW 177T>C Ser59Ser
M0114153 KCHOKHNP_00037 43223 4 Skin 0.03 protein_coding synonymous_variant LOW 111C>T Ala37Ala
M0114154 KCHOKHNP_00040 45167 3 Skin 0.02 protein_coding synonymous_variant LOW 207A>G Leu69Leu
M0114155 KCHOKHNP_00041 45990 8 Skin 0.05 protein_coding synonymous_variant LOW 195C>T Ser65Ser
M0114156 KCHOKHNP_00041 46011 7 Skin 0.05 protein_coding synonymous_variant LOW 216A>G Leu72Leu
M0114157 KCHOKHNP_00041 46080 13 Skin 0.08 protein_coding synonymous_variant LOW 285G>A Lys95Lys
M0114158 KCHOKHNP_00041 46122 14 Skin 0.09 protein_coding synonymous_variant LOW 327G>A Val109Val
M0114159 KCHOKHNP_00042 47638 5 Skin 0.03 protein_coding synonymous_variant LOW 804C>T Tyr268Tyr
M0114160 KCHOKHNP_00044 48117 4 Skin 0.03 protein_coding missense_variant MODERATE 49T>A Cys17Ser
M0114161 KCHOKHNP_00044 48871 9 Skin 0.06 protein_coding missense_variant MODERATE 803T>C Ile268Thr
M0114162 KCHOKHNP_00044 48876 9 Skin 0.06 protein_coding missense_variant MODERATE 808C>G Pro270Ala
M0114163 KCHOKHNP_00045 48927 3 Skin 0.02 protein_coding missense_variant MODERATE 68G>C Arg23Pro
M0114164 KCHOKHNP_00045 49142 3 Skin 0.02 protein_coding missense_variant MODERATE 283G>A Ala95Thr
M0114165 KCHOKHNP_00045 49145 3 Skin 0.02 protein_coding missense_variant MODERATE 286G>T Asp96Tyr
M0114166 KCHOKHNP_00045 49180 3 Skin 0.02 protein_coding synonymous_variant LOW 321C>T Ala107Ala
M0114167 KCHOKHNP_00045 49219 4 Skin 0.03 protein_coding synonymous_variant LOW 360A>G Thr120Thr
M0114168 KCHOKHNP_00020 24109 3 Skin 0.02 protein_coding synonymous_variant LOW 193T>C Leu65Leu
M0114169 KCHOKHNP_00020 24111 3 Skin 0.02 protein_coding missense_variant MODERATE 195A>C Leu65Phe
M0114170 KCHOKHNP_00024 29515 4 Skin 0.03 protein_coding missense_variant MODERATE 1368G>T Leu456Phe
M0114171 KCHOKHNP_00025 30845 3 Skin 0.02 protein_coding missense_variant MODERATE 252G>C Met84Ile
M0114172 KCHOKHNP_00025 30965 3 Skin 0.02 protein_coding synonymous_variant LOW 372A>G Gln124Gln
M0114173 KCHOKHNP_00034 44844 5 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4556G>T None
M0114174 KCHOKHNP_00040 45567 3 Skin 0.02 protein_coding synonymous_variant LOW 607C>T Leu203Leu
M0114175 KCHOKHNP_00003 2895 6 Skin 0.04 protein_coding synonymous_variant LOW 1398G>A Gly466Gly
M0114176 KCHOKHNP_00004 4007 3 Skin 0.02 protein_coding missense_variant MODERATE 709C>A Leu237Ile
M0114177 KCHOKHNP_00004 4136 4 Skin 0.03 protein_coding missense_variant MODERATE 838T>C Cys280Arg
M0114178 KCHOKHNP_00001 944 3 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -61T>C None
M0114179 KCHOKHNP_00002 1180 3 Skin 0.02 protein_coding missense_variant MODERATE 73A>G Ser25Gly
M0114180 KCHOKHNP_00002 1221 3 Skin 0.02 protein_coding missense_variant MODERATE 32G>C Ser11Thr
M0114181 KCHOKHNP_00002 1223 3 Skin 0.02 protein_coding missense_variant MODERATE 30A>C Glu10Asp
M0114182 KCHOKHNP_00002 1230 3 Skin 0.02 protein_coding missense_variant MODERATE 23A>G Tyr8Cys
M0114183 KCHOKHNP_00001 1435 3 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -552A>T None
M0114184 KCHOKHNP_00001 1442 3 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -559A>C None
M0114185 KCHOKHNP_00001 5323 3 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -4440A>C None
M0114186 KCHOKHNP_00006 5416 3 Skin 0.02 protein_coding synonymous_variant LOW 87T>C Asn29Asn
M0114187 KCHOKHNP_00006 5556 3 Skin 0.02 protein_coding missense_variant MODERATE 227C>T Ala76Val
M0114188 KCHOKHNP_00006 5614 4 Skin 0.03 protein_coding synonymous_variant LOW 285C>T Gly95Gly
M0114189 KCHOKHNP_00006 5698 3 Skin 0.02 protein_coding synonymous_variant LOW 369G>A Val123Val
M0114190 KCHOKHNP_00006 5722 5 Skin 0.03 protein_coding synonymous_variant LOW 393G>A Pro131Pro
M0114191 KCHOKHNP_00006 5956 3 Skin 0.02 protein_coding synonymous_variant LOW 627T>C Cys209Cys
M0114192 KCHOKHNP_00006 5959 3 Skin 0.02 protein_coding missense_variant MODERATE 630T>G Phe210Leu
M0114193 KCHOKHNP_00006 5963 3 Skin 0.02 protein_coding missense_variant MODERATE 634A>C Ile212Leu
M0114194 KCHOKHNP_00006 6194 5 Skin 0.03 protein_coding synonymous_variant LOW 865T>C Leu289Leu
M0114195 KCHOKHNP_00006 6236 5 Skin 0.03 protein_coding missense_variant MODERATE 907A>C Asn303His
M0114196 KCHOKHNP_00006 6289 3 Skin 0.02 protein_coding synonymous_variant LOW 960C>G Ala320Ala
M0114197 KCHOKHNP_00006 6301 5 Skin 0.03 protein_coding synonymous_variant LOW 972A>G Thr324Thr
M0114198 KCHOKHNP_00006 6328 4 Skin 0.03 protein_coding synonymous_variant LOW 999A>G Lys333Lys
M0114199 KCHOKHNP_00006 6341 3 Skin 0.02 protein_coding synonymous_variant LOW 1012T>C Leu338Leu
M0114200 KCHOKHNP_00006 6430 5 Skin 0.03 protein_coding synonymous_variant LOW 1101G>C Val367Val
M0114201 KCHOKHNP_00007 6900 4 Skin 0.03 protein_coding missense_variant MODERATE 211C>T Arg71Cys
M0114202 KCHOKHNP_00007 7097 3 Skin 0.02 protein_coding missense_variant MODERATE 408C>A Asp136Glu
M0114203 KCHOKHNP_00007 7106 4 Skin 0.03 protein_coding synonymous_variant LOW 417A>G Thr139Thr
M0114204 KCHOKHNP_00007 7145 3 Skin 0.02 protein_coding synonymous_variant LOW 456T>C Phe152Phe
M0114205 KCHOKHNP_00007 7241 6 Skin 0.04 protein_coding synonymous_variant LOW 552G>A Gly184Gly
M0114206 KCHOKHNP_00007 7520 6 Skin 0.04 protein_coding synonymous_variant LOW 831A>G Ala277Ala
M0114207 KCHOKHNP_00007 7526 6 Skin 0.04 protein_coding synonymous_variant LOW 837A>G Leu279Leu
M0114208 KCHOKHNP_00007 7787 3 Skin 0.02 protein_coding synonymous_variant LOW 1098C>T Asp366Asp
M0114209 KCHOKHNP_00007 7799 4 Skin 0.03 protein_coding synonymous_variant LOW 1110A>G Val370Val
M0114210 KCHOKHNP_00007 7865 4 Skin 0.03 protein_coding synonymous_variant LOW 1176A>G Gln392Gln
M0114211 KCHOKHNP_00007 8009 4 Skin 0.03 protein_coding synonymous_variant LOW 1320T>C Asp440Asp
M0114212 KCHOKHNP_00007 8047 4 Skin 0.03 protein_coding missense_variant MODERATE 1358G>A Gly453Asp
M0114213 KCHOKHNP_00007 8048 4 Skin 0.03 protein_coding synonymous_variant LOW 1359T>G Gly453Gly
M0114214 KCHOKHNP_00007 8078 4 Skin 0.03 protein_coding synonymous_variant LOW 1389T>C Ile463Ile
M0114215 KCHOKHNP_00007 8081 4 Skin 0.03 protein_coding synonymous_variant LOW 1392C>T Ile464Ile
M0114216 KCHOKHNP_00007 8132 5 Skin 0.03 protein_coding synonymous_variant LOW 1443T>C Ile481Ile
M0114217 KCHOKHNP_00007 8133 5 Skin 0.03 protein_coding missense_variant MODERATE 1444A>G Ile482Val
M0114218 KCHOKHNP_00007 8413 4 Skin 0.03 protein_coding missense_variant MODERATE 1724G>A Arg575Gln
M0114219 KCHOKHNP_00008 10359 4 Skin 0.03 protein_coding missense_variant MODERATE 1751C>T Thr584Ile
M0114220 KCHOKHNP_00008 10363 4 Skin 0.03 protein_coding synonymous_variant LOW 1755A>G Glu585Glu
M0114221 KCHOKHNP_00008 10367 4 Skin 0.03 protein_coding missense_variant MODERATE 1759C>G Leu587Val
M0114222 KCHOKHNP_00008 10399 4 Skin 0.03 protein_coding synonymous_variant LOW 1791G>A Val597Val
M0114223 KCHOKHNP_00066 69930 3 Skin 0.02 protein_coding missense_variant MODERATE 155A>T Asp52Val
M0114224 KCHOKHNP_00004 4213 3 Skin 0.02 protein_coding synonymous_variant LOW 915T>C Thr305Thr
M0114225 KCHOKHNP_00004 4216 3 Skin 0.02 protein_coding synonymous_variant LOW 918C>A Ile306Ile
M0114226 KCHOKHNP_00004 4219 3 Skin 0.02 protein_coding synonymous_variant LOW 921C>T Gly307Gly
M0114227 KCHOKHNP_00007 7343 4 Skin 0.03 protein_coding synonymous_variant LOW 654A>G Leu218Leu
M0114228 KCHOKHNP_00007 7346 4 Skin 0.03 protein_coding synonymous_variant LOW 657G>T Ala219Ala
M0114229 KCHOKHNP_00007 7349 4 Skin 0.03 protein_coding synonymous_variant LOW 660T>C Val220Val
M0114230 KCHOKHNP_00007 7373 4 Skin 0.03 protein_coding synonymous_variant LOW 684C>T Asn228Asn
M0114231 KCHOKHNP_00007 7841 3 Skin 0.02 protein_coding synonymous_variant LOW 1152C>T Ser384Ser
M0114232 KCHOKHNP_00008 9439 3 Skin 0.02 protein_coding synonymous_variant LOW 831C>T Gly277Gly
M0114233 KCHOKHNP_00010 11359 3 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -97T>A None
M0114234 KCHOKHNP_00010 11361 3 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -95T>C None
M0114235 KCHOKHNP_00010 11390 3 Skin 0.02 protein_coding upstream_gene_variant MODIFIER -66G>T None
M0114236 KCHOKHNP_00016 19765 3 Skin 0.02 protein_coding missense_variant MODERATE 239T>C Leu80Ser
M0114237 KCHOKHNP_00016 19888 3 Skin 0.02 protein_coding missense_variant MODERATE 116T>G Val39Gly
M0114238 KCHOKHNP_00045 49712 9 Skin 0.06 protein_coding missense_variant MODERATE 853G>A Gly285Ser
M0114239 KCHOKHNP_00045 49716 9 Skin 0.06 protein_coding missense_variant MODERATE 857G>A Gly286Asp
M0114240 KCHOKHNP_00045 49729 4 Skin 0.03 protein_coding synonymous_variant LOW 870C>T Asp290Asp
M0114241 KCHOKHNP_00045 50275 8 Skin 0.05 protein_coding synonymous_variant LOW 1416C>T Ala472Ala
M0114242 KCHOKHNP_00042 47224 3 Skin 0.02 protein_coding synonymous_variant LOW 390C>A Ala130Ala
M0114243 KCHOKHNP_00020 24246 3 Skin 0.02 protein_coding synonymous_variant LOW 330A>G Leu110Leu
M0114244 KCHOKHNP_00020 24249 3 Skin 0.02 protein_coding synonymous_variant LOW 333A>G Gly111Gly
M0114245 KCHOKHNP_00024 29902 3 Skin 0.02 protein_coding synonymous_variant LOW 1755A>G Gly585Gly
M0114246 KCHOKHNP_00025 31024 3 Skin 0.02 protein_coding missense_variant MODERATE 431T>C Ile144Thr
M0114247 KCHOKHNP_00023 28053 3 Skin 0.02 protein_coding missense_variant MODERATE 1454T>C Ile485Thr
M0114248 KCHOKHNP_00040 45269 4 Skin 0.03 protein_coding synonymous_variant LOW 309T>C Asp103Asp
M0114249 KCHOKHNP_00019 22947 4 Skin 0.03 protein_coding synonymous_variant LOW 382C>T Leu128Leu
M0114250 KCHOKHNP_00042 46995 8 Skin 0.05 protein_coding missense_variant MODERATE 161A>C Asp54Ala
M0114251 KCHOKHNP_00042 46997 6 Skin 0.04 protein_coding missense_variant MODERATE 163C>G Gln55Glu
M0114252 KCHOKHNP_00042 47005 8 Skin 0.05 protein_coding synonymous_variant LOW 171T>C Gly57Gly
M0114253 KCHOKHNP_00042 47011 7 Skin 0.05 protein_coding synonymous_variant LOW 177T>C Gly59Gly
M0114254 KCHOKHNP_00042 47014 8 Skin 0.05 protein_coding synonymous_variant LOW 180A>C Ala60Ala
M0114255 KCHOKHNP_00042 47023 7 Skin 0.05 protein_coding synonymous_variant LOW 189T>C Ile63Ile
M0114256 KCHOKHNP_00042 47047 6 Skin 0.04 protein_coding synonymous_variant LOW 213C>T Ser71Ser
M0114257 KCHOKHNP_00042 47050 6 Skin 0.04 protein_coding synonymous_variant LOW 216C>T Thr72Thr
M0114258 KCHOKHNP_00046 51084 7 Skin 0.05 protein_coding upstream_gene_variant MODIFIER -519C>T None
M0114259 KCHOKHNP_00046 51151 5 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -452G>T None
M0114260 KCHOKHNP_00046 51345 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -258C>T None
M0114261 KCHOKHNP_00034 44622 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4334A>C None
M0114262 KCHOKHNP_00034 44630 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4342G>A None
M0114263 KCHOKHNP_00034 44635 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4347A>C None
M0114264 KCHOKHNP_00034 44661 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4373T>C None
M0114265 KCHOKHNP_00034 44715 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4427G>A None
M0114266 KCHOKHNP_00034 44719 4 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4431T>G None
M0114267 KCHOKHNP_00034 44820 5 Skin 0.03 protein_coding upstream_gene_variant MODIFIER -4532A>G None
M0114268 KCHOKHNP_00034 44825 6 Skin 0.04 protein_coding upstream_gene_variant MODIFIER -4537C>T None
M0114269 KCHOKHNP_00040 45092 4 Skin 0.03 protein_coding synonymous_variant LOW 132C>T Asp44Asp
M0114270 KCHOKHNP_00040 45560 4 Skin 0.03 protein_coding synonymous_variant LOW 600C>T Val200Val
M0114271 KCHOKHNP_00040 45602 4 Skin 0.03 protein_coding synonymous_variant LOW 642G>A Lys214Lys
M0114272 KCHOKHNP_00041 46102 5 Skin 0.03 protein_coding missense_variant MODERATE 307A>T Thr103Ser
M0114273 KCHOKHNP_00041 46467 7 Skin 0.05 protein_coding synonymous_variant LOW 672T>C Gly224Gly
M0114274 KCHOKHNP_00041 46486 5 Skin 0.03 protein_coding missense_variant MODERATE 691A>G Ile231Val
M0114275 KCHOKHNP_00041 46530 5 Skin 0.03 protein_coding synonymous_variant LOW 735A>G Ser245Ser
M0114276 KCHOKHNP_00041 46646 5 Skin 0.03 protein_coding missense_variant MODERATE 851A>G Lys284Arg
M0114277 KCHOKHNP_00042 47161 6 Skin 0.04 protein_coding synonymous_variant LOW 327A>T Pro109Pro
M0114278 KCHOKHNP_00042 47266 6 Skin 0.04 protein_coding synonymous_variant LOW 432C>T Val144Val
M0114279 KCHOKHNP_00018 21953 3 Skin 0.02 protein_coding synonymous_variant LOW 81C>G Val27Val
M0114280 KCHOKHNP_00018 21965 3 Skin 0.02 protein_coding synonymous_variant LOW 69A>G Leu23Leu
M0114281 KCHOKHNP_00018 21998 3 Skin 0.02 protein_coding synonymous_variant LOW 36T>C Asn12Asn
M0114282 KCHOKHNP_00018 22001 3 Skin 0.02 protein_coding synonymous_variant LOW 33T>C Pro11Pro
M0114283 KCHOKHNP_00043 48043 7 Skin 0.05 protein_coding synonymous_variant LOW 174C>T Asp58Asp
M0114284 KCHOKHNP_00043 48044 6 Skin 0.04 protein_coding missense_variant MODERATE 175C>T Pro59Ser
M0114285 KCHOKHNP_00043 48059 6 Skin 0.04 protein_coding stop_gained HIGH 190G>T Glu64*
M0114286 KCHOKHNP_00044 48142 7 Skin 0.05 protein_coding missense_variant MODERATE 74G>T Trp25Leu
M0114287 KCHOKHNP_00044 48203 6 Skin 0.04 protein_coding synonymous_variant LOW 135C>T Val45Val
M0114288 KCHOKHNP_00044 48239 6 Skin 0.04 protein_coding missense_variant MODERATE 171A>T Glu57Asp
M0114289 KCHOKHNP_00044 48278 6 Skin 0.04 protein_coding synonymous_variant LOW 210C>T Ser70Ser
M0114290 KCHOKHNP_00044 48389 7 Skin 0.05 protein_coding synonymous_variant LOW 321C>G Gly107Gly
M0114291 KCHOKHNP_00044 48582 6 Skin 0.04 protein_coding missense_variant MODERATE 514A>G Ile172Val
M0114292 KCHOKHNP_00044 48614 7 Skin 0.05 protein_coding synonymous_variant LOW 546A>G Leu182Leu
M0114293 KCHOKHNP_00044 48647 7 Skin 0.05 protein_coding synonymous_variant LOW 579T>C Ala193Ala
M0114294 KCHOKHNP_00044 48649 7 Skin 0.05 protein_coding missense_variant MODERATE 581A>G Lys194Arg
M0114295 KCHOKHNP_00044 48650 7 Skin 0.05 protein_coding missense_variant MODERATE 582A>C Lys194Asn
M0114296 KCHOKHNP_00044 48679 7 Skin 0.05 protein_coding missense_variant MODERATE 611T>C Ile204Thr
M0114297 KCHOKHNP_00044 48684 7 Skin 0.05 protein_coding missense_variant MODERATE 616G>A Gly206Ser
M0114298 KCHOKHNP_00044 48791 7 Skin 0.05 protein_coding synonymous_variant LOW 723A>G Gln241Gln
M0114299 KCHOKHNP_00044 48839 7 Skin 0.05 protein_coding missense_variant MODERATE 771C>G Asn257Lys
M0114300 KCHOKHNP_00045 49384 4 Skin 0.03 protein_coding synonymous_variant LOW 525T>C Asp175Asp
M0114301 KCHOKHNP_00045 50581 4 Skin 0.03 protein_coding synonymous_variant LOW 1722C>T Ile574Ile
M0114302 KCHOKHNP_00045 50668 4 Skin 0.03 protein_coding missense_variant MODERATE 1809G>C Glu603Asp
M0114303 KCHOKHNP_00041 45912 4 Skin 0.03 protein_coding synonymous_variant LOW 117A>G Pro39Pro
M0114304 KCHOKHNP_00041 46006 4 Skin 0.03 protein_coding synonymous_variant LOW 211C>T Leu71Leu
M0114305 KCHOKHNP_00042 47335 5 Skin 0.03 protein_coding synonymous_variant LOW 501A>C Pro167Pro
M0114306 KCHOKHNP_00042 47336 5 Skin 0.03 protein_coding missense_variant MODERATE 502G>A Glu168Lys
M0114307 KCHOKHNP_00042 47792 5 Skin 0.03 protein_coding synonymous_variant LOW 958T>C Leu320Leu
M0114308 KCHOKHNP_00042 47812 5 Skin 0.03 protein_coding missense_variant MODERATE 978C>A Asp326Glu
M0114309 KCHOKHNP_00043 47876 5 Skin 0.03 protein_coding missense_variant MODERATE 7A>G Lys3Glu
M0114310 KCHOKHNP_00043 47886 5 Skin 0.03 protein_coding missense_variant MODERATE 17A>G Glu6Gly
M0114311 KCHOKHNP_00043 47903 5 Skin 0.03 protein_coding missense_variant MODERATE 34A>C Met12Leu
M0114312 KCHOKHNP_00043 47996 5 Skin 0.03 protein_coding missense_variant MODERATE 127C>A Gln43Lys
M0114313 KCHOKHNP_00043 48031 6 Skin 0.04 protein_coding synonymous_variant LOW 162C>T Ile54Ile
M0114314 KCHOKHNP_00043 48054 5 Skin 0.03 protein_coding missense_variant MODERATE 185C>T Thr62Ile
M0114315 KCHOKHNP_00043 48080 5 Skin 0.03 protein_coding missense_variant MODERATE 211C>G Gln71Glu
M0114316 KCHOKHNP_00043 48087 5 Skin 0.03 protein_coding missense_variant MODERATE 218C>T Thr73Ile
M0114317 KCHOKHNP_00044 48177 5 Skin 0.03 protein_coding missense_variant MODERATE 109G>T Asp37Tyr
M0114318 KCHOKHNP_00044 48788 5 Skin 0.03 protein_coding synonymous_variant LOW 720C>G Pro240Pro
M0114319 KCHOKHNP_00044 48793 6 Skin 0.04 protein_coding missense_variant MODERATE 725A>G Lys242Arg
M0114320 KCHOKHNP_00044 48794 6 Skin 0.04 protein_coding synonymous_variant LOW 726A>G Lys242Lys
M0114321 KCHOKHNP_00045 48938 5 Skin 0.03 protein_coding missense_variant MODERATE 79G>A Asp27Asn
M0114322 KCHOKHNP_00045 49019 5 Skin 0.03 protein_coding missense_variant MODERATE 160C>A Leu54Ile
M0114323 KCHOKHNP_00045 49028 5 Skin 0.03 protein_coding synonymous_variant LOW 169C>T Leu57Leu
M0114324 KCHOKHNP_00045 49211 3 Skin 0.02 protein_coding missense_variant MODERATE 352G>A Asp118Asn
M0114325 KCHOKHNP_00045 49553 4 Skin 0.03 protein_coding missense_variant MODERATE 694C>T His232Tyr
M0114326 KCHOKHNP_00045 49682 4 Skin 0.03 protein_coding missense_variant MODERATE 823G>A Ala275Thr
M0114327 KCHOKHNP_00045 49858 4 Skin 0.03 protein_coding synonymous_variant LOW 999G>A Leu333Leu
M0114328 KCHOKHNP_00045 50680 3 Skin 0.02 protein_coding missense_variant MODERATE 1821C>A Asn607Lys
M0114329 KCHOKHNP_00045 50761 5 Skin 0.03 protein_coding synonymous_variant LOW 1902A>G Lys634Lys
M0114330 KCHOKHNP_00045 50762 5 Skin 0.03 protein_coding missense_variant MODERATE 1903C>G Leu635Val
M0114331 KCHOKHNP_00045 50763 5 Skin 0.03 protein_coding missense_variant MODERATE 1904T>A Leu635Gln
M0114332 KCHOKHNP_00045 50767 5 Skin 0.03 protein_coding synonymous_variant LOW 1908T>C Ser636Ser
M0114333 KCHOKHNP_00045 50770 5 Skin 0.03 protein_coding synonymous_variant LOW 1911C>T Asp637Asp
M0114334 KCHOKHNP_00045 50772 5 Skin 0.03 protein_coding missense_variant MODERATE 1913A>G Asn638Ser
M0114335 KCHOKHNP_00045 50776 5 Skin 0.03 protein_coding synonymous_variant LOW 1917A>G Leu639Leu
M0114336 KCHOKHNP_00045 50779 5 Skin 0.03 protein_coding synonymous_variant LOW 1920C>T Ala640Ala
M0114337 KCHOKHNP_00045 51010 3 Skin 0.02 protein_coding missense_variant MODERATE 2151G>A Met717Ile
M0114338 KCHOKHNP_00036 41901 3 Skin 0.02 protein_coding synonymous_variant LOW 603A>G Gly201Gly
M0114339 KCHOKHNP_00042 47026 3 Skin 0.02 protein_coding missense_variant MODERATE 192C>A Asp64Glu
M0114340 KCHOKHNP_00023 27268 4 Skin 0.03 protein_coding missense_variant MODERATE 669C>A Asn223Lys
M0114341 KCHOKHNP_00008 10144 3 Skin 0.02 protein_coding synonymous_variant LOW 1536T>G Gly512Gly






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
KCHOKHNP_00033 ATQ84332.1|CE4 100 6.1e-255 1 330 1 1





        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