view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP4-11_chr17_41112181_41123373 | 41117934 | CAGACTGG others(98): Show |
C | conservative_inframe_deletion | MODERATE | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(54): Show |
a0003a0005a0007others(1): Show | a0003c0003a0005c0005a0007c0007others(1): Show | a0003c0003t0002a0005c0005t0003a0005c0005t0006others(2): Show | a0003c0003t0002g0000 a0005c0005t0003g0000 a0005c0005t0006g0000 others(2): Show |
57 | 426 | 0.1338 | -105 | c.277 others(7): Show |
p.Met others(12): Show |
KRTAP4-11 | ENSG00000212721.4 | transcript | ENST00000391413.4 | protein_coding | 1/1 | 439/1193 | 277/588 | 93/195 | chr17 | TogoVar | |||
KRTAP4-4_chr17_41154649_41165748 | 41160598 | TGCAGCAG others(8): Show |
T | conservative_inframe_deletion | MODERATE | HG01361.hp1 | a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0000 | 1 | 418 | 0.0024 | -15 | c.79_ others(20): Show |
p.Gln others(11): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1/1 | 150/1100 | 79/501 | 27/166 | chr17 | TogoVar | |||
KRTAP4-9_chr17_41100389_41111488 | 41105526 | ATCCAGCT others(113): Show |
A | conservative_inframe_deletion | MODERATE | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 420 | 0.0024 | -120 | c.169 others(7): Show |
p.Ser others(11): Show |
KRTAP4-9 | ENSG00000212722.9 | transcript | ENST00000391415.2 | protein_coding | 1/1 | 169/1100 | 169/633 | 57/210 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KRTAP5-11_chr11_71576855_71587875 | 71582738 | TGGAGCCA others(35): Show |
T | conservative_inframe_deletion | MODERATE | HG00621.hp1 HG01167.hp2 HG01169.hp2 others(23): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0002t0003a0002c0004t0003 | a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0004t0003g0000 |
26 | 462 | 0.0563 | -42 | c.58_ others(47): Show |
p.Gly others(11): Show |
KRTAP5-11 | ENSG00000204571.7 | transcript | ENST00000398530.1 | protein_coding | 1/1 | 137/1021 | 58/471 | 20/156 | chr11 | TogoVar | |||
KRTAP5-3_chr11_1602565_1613463 | 1608307 | CGGAGCCA others(14): Show |
C | conservative_inframe_deletion | MODERATE | NA20129.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0000 | 1 | 425 | 0.0024 | -21 | c.58_ others(26): Show |
p.Ser others(11): Show |
KRTAP5-3 | ENSG00000196224.7 | transcript | ENST00000399685.1 | protein_coding | 1/1 | 156/899 | 58/717 | 20/238 | chr11 | TogoVar | |||
KRTAP5-8_chr11_71533025_71544209 | 71538425 | AGCTGCTC others(80): Show |
A | conservative_inframe_deletion | MODERATE | HG00621.hp1 HG02015.hp2 HG02071.hp2 others(8): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 11 | 440 | 0.0250 | -87 | c.448 others(94): Show |
p.Lys others(13): Show |
KRTAP5-8 | ENSG00000241233.4 | transcript | ENST00000398534.4 | protein_coding | 1/1 | 479/1185 | 448/564 | 150/187 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KTI12_chr1_52027103_52038810 | 52033398 | CGCCCGCC others(20): Show |
C | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG01175.hp1 HG02698.hp1 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0000 | 11 | 316 | 0.0348 | -27 | c.337 others(34): Show |
p.Pro others(13): Show |
KTI12 | ENSG00000198841.4 | transcript | ENST00000371614.2 | protein_coding | 1/1 | 412/1708 | 337/1065 | 113/354 | chr1 | TogoVar | |||
LCE1D_chr1_152791721_152803181 | 152797831 | CCTCCCAA others(5): Show |
C | conservative_inframe_deletion | MODERATE | HG02572.hp1 HG03041.hp1 HG03579.hp1 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0004 | 4 | 378 | 0.0106 | -12 | c.61_ others(17): Show |
p.Thr others(11): Show |
LCE1D | ENSG00000172155.10 | transcript | ENST00000326233.7 | protein_coding | 2/2 | 134/460 | 61/345 | 21/114 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
LCE1F_chr1_152770140_152782024 | 152776437 | CAAGTGCC others(8): Show |
C | conservative_inframe_deletion | MODERATE | HG02572.hp1 HG03041.hp1 HG03579.hp2 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0007 | 4 | 436 | 0.0092 | -15 | c.76_ others(20): Show |
p.Thr others(11): Show |
LCE1F | ENSG00000240386.4 | transcript | ENST00000334371.4 | protein_coding | 2/2 | 149/726 | 76/357 | 26/118 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
LCE2C_chr1_152670279_152681569 | 152676153 | TTGCTGTG others(17): Show |
T | conservative_inframe_deletion | MODERATE | HG03130.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0001 | 1 | 424 | 0.0024 | -24 | c.160 others(31): Show |
p.Ser others(11): Show |
LCE2C | ENSG00000187180.4 | transcript | ENST00000368783.2 | protein_coding | 2/2 | 231/625 | 160/333 | 54/110 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
LIAT1_chr17_405325_419666 | 413464 | CGACCCCG others(233): Show |
C | conservative_inframe_deletion | MODERATE | HG01081.hp1 HG02683.hp2 HG03491.hp2 others(3): Show |
a0008 | a0008c0010 | a0008c0010t0001a0008c0010t0002 | a0008c0010t0001g0008 a0008c0010t0002g0008 |
6 | 432 | 0.0139 | -240 | c.658 others(7): Show |
p.Asp others(13): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 2/2 | 676/1841 | 658/1272 | 220/423 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
LIAT1_chr17_405325_419666 | 413536 | CCTCAAGG others(53): Show |
C | conservative_inframe_deletion | MODERATE | HG02055.hp2 HG03540.hp1 NA18906.hp1 |
a0013 | a0013c0013 | a0013c0013t0001 | a0013c0013t0001g0014 a0013c0013t0001g0028 |
3 | 431 | 0.0070 | -60 | c.733 others(67): Show |
p.Ile others(13): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 2/2 | 751/1841 | 733/1272 | 245/423 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
LIAT1_chr17_405325_419666 | 413566 | CCTCAAGG others(23): Show |
C | conservative_inframe_deletion | MODERATE | HG03130.hp1 | a0023 | a0023c0027 | a0023c0027t0003 | a0023c0027t0003g0002 | 1 | 432 | 0.0023 | -30 | c.733 others(37): Show |
p.Ile others(13): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 2/2 | 751/1841 | 733/1272 | 245/423 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
LIAT1_chr17_405325_419666 | 413794 | TGACCCCG others(53): Show |
T | conservative_inframe_deletion | MODERATE | HG02055.hp2 HG03540.hp1 NA18906.hp1 |
a0013 | a0013c0013 | a0013c0013t0001 | a0013c0013t0001g0014 a0013c0013t0001g0028 |
3 | 342 | 0.0088 | -60 | c.988 others(68): Show |
p.Lys others(13): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 2/2 | 1006/1841 | 988/1272 | 330/423 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
LIAT1_chr17_405325_419666 | 413801 | GAGGCCCT others(23): Show |
G | conservative_inframe_deletion | MODERATE | HG04115.hp1 | a0026 | a0026c0032 | a0026c0032t0001 | a0026c0032t0001g0003 | 1 | 349 | 0.0029 | -30 | c.988 others(38): Show |
p.Lys others(13): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 2/2 | 1006/1841 | 988/1272 | 330/423 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
LIG1_chr19_48110445_48175344 | 48115647 | GCTTAGTA others(56): Show |
G | stop_lost others(1): Show |
HIGH | NA18985.hp1 | a0013 | a0013c0013 | a0013c0013t0007 | a0013c0013t0007g0181 | 1 | 328 | 0.0030 | -63 | c.269 others(70): Show |
p.Gln others(19): Show |
LIG1 | ENSG00000105486.15 | transcript | ENST00000263274.12 | protein_coding | 28/28 | 2922/3125 | 2699/2760 | 900/919 | chr19 | TogoVar | |||
LOC647264_chr13_63827361_63838053 | 63832879 | CAGAGCCA others(17): Show |
C | conservative_inframe_deletion | MODERATE | NA19240.hp2 | a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0000 | 1 | 440 | 0.0023 | -24 | c.91_ others(30): Show |
p.Ser others(11): Show |
LOC647264 | ENSG00000285566.2 | transcript | ENST00000648713.2 | protein_coding | 1/1 | 174/693 | 91/330 | 31/109 | chr13 | TogoVar | |||
LPIN1_chr2_11741632_11832409 | 11782200 | GTCT | G | conservative_inframe_deletion | MODERATE | HG01167.hp2 HG02055.hp2 HG02280.hp1 others(3): Show |
a0002 | a0002c0007a0002c0009a0002c0010 | a0002c0007t0011a0002c0007t0034a0002c0007t0035others(2): Show | a0002c0007t0011g0029 a0002c0007t0034g0027 a0002c0007t0035g0028 others(3): Show |
6 | 276 | 0.0217 | -3 | c.964 others(10): Show |
p.Ser others(6): Show |
LPIN1 | ENSG00000134324.12 | transcript | ENST00000674199.1 | protein_coding | 8/21 | 1013/5448 | 964/2781 | 322/926 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
LRP5_chr11_68307591_68454275 | 68386386 | CACCGACA others(5): Show |
C | conservative_inframe_deletion | MODERATE | NA19091.hp2 | a0016 | a0016c0044 | a0016c0044t0001 | a0016c0044t0001g0139 | 1 | 210 | 0.0048 | -12 | c.108 others(21): Show |
p.Thr others(13): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 6/23 | 1211/5177 | 1087/4848 | 363/1615 | chr11 | TogoVar | |||
LRRC17_chr7_102908000_102950111 | 102934552 | TGAA | T | conservative_inframe_deletion | MODERATE | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(191): Show |
a0001a0008 | a0001c0001a0001c0009a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(104): Show |
194 | 396 | 0.4899 | -3 | c.646 others(10): Show |
p.Glu others(6): Show |
LRRC17 | ENSG00000128606.13 | transcript | ENST00000339431.9 | protein_coding | 2/4 | 932/2116 | 646/1326 | 216/441 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
LRRC46_chr17_47826670_47842719 | 47836758 | AAGGAGCT others(5): Show |
A | conservative_inframe_deletion | MODERATE | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0012 others(3): Show |
18 | 390 | 0.0462 | -12 | c.613 others(19): Show |
p.Glu others(13): Show |
LRRC46 | ENSG00000141294.10 | transcript | ENST00000269025.9 | protein_coding | 8/8 | 933/1885 | 613/966 | 205/321 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
LSM7_chr19_2316521_2333586 | 2328544 | TTCCGCCG others(33): Show |
T | start_lost others(2): Show |
HIGH | HG03492.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0057 | 1 | 434 | 0.0023 | -40 | c.-18 others(48): Show |
p.Met others(9): Show |
LSM7 | ENSG00000130332.15 | transcript | ENST00000252622.15 | protein_coding | 1/4 | 1/312 | 1/103 | chr19 | TogoVar | ||||
LTBP3_chr11_65533559_65563359 | 65557854 | CCAGCAGC others(2): Show |
C | conservative_inframe_deletion | MODERATE | HG02258.hp2 HG02280.hp1 HG02572.hp2 others(4): Show |
a0005 | a0005c0006 | a0005c0006t0001a0005c0006t0002 | a0005c0006t0001g0223 a0005c0006t0002g0217 a0005c0006t0002g0218 others(4): Show |
7 | 283 | 0.0247 | -9 | c.97_ others(15): Show |
p.Leu others(11): Show |
LTBP3 | ENSG00000168056.18 | transcript | ENST00000301873.11 | protein_coding | 1/28 | 505/4833 | 97/3912 | 33/1303 | chr11 | TogoVar | |||
LTBR_chr12_6379162_6396566 | 6390676 | TGTCACCG others(35): Show |
T | conservative_inframe_deletion | MODERATE | NA18983.hp2 | a0006 | a0006c0008 | a0006c0008t0005 | a0006c0008t0005g0003 | 1 | 450 | 0.0022 | -42 | c.104 others(51): Show |
p.Val others(13): Show |
LTBR | ENSG00000111321.11 | transcript | ENST00000228918.9 | protein_coding | 10/10 | 1245/2134 | 1048/1308 | 350/435 | chr12 | TogoVar | |||
LY6H_chr8_143152916_143165321 | 143158459 | TCTTGTTC others(5): Show |
T | conservative_inframe_deletion | MODERATE | NA19066.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0021 | 1 | 442 | 0.0023 | -12 | c.265 others(19): Show |
p.Ser others(11): Show |
LY6H | ENSG00000176956.13 | transcript | ENST00000342752.9 | protein_coding | 4/4 | 398/942 | 265/486 | 89/161 | chr8 | TogoVar | |||
MAFA_chr8_143423064_143435732 | 143429938 | GGTGGTGC others(5): Show |
G | conservative_inframe_deletion | MODERATE | HG02109.hp2 | a0005 | a0005c0013 | a0005c0013t0006 | a0005c0013t0006g0000 | 1 | 444 | 0.0023 | -12 | c.457 others(19): Show |
p.Gly others(13): Show |
MAFA | ENSG00000182759.4 | transcript | ENST00000333480.3 | protein_coding | 1/1 | 794/2669 | 457/1062 | 153/353 | chr8 | TogoVar | |||
MAGEB1_chrX_30242146_30257040 | 30251149 | AGATCTGG others(53): Show |
A | conservative_inframe_deletion | MODERATE | NA19076.hp1 | a0006 | a0006c0006 | a0006c0006t0006 | a0006c0006t0006g0010 | 1 | 336 | 0.0030 | -60 | c.658 others(67): Show |
p.Ile others(13): Show |
MAGEB1 | ENSG00000214107.9 | transcript | ENST00000397548.4 | protein_coding | 2/2 | 829/1718 | 658/1044 | 220/347 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141905825 | TTGAGTAT others(98): Show |
T | conservative_inframe_deletion | MODERATE | NA19009.hp1 | a0104 | a0104c0065 | a0104c0065t0001 | a0104c0065t0001g0001 | 1 | 356 | 0.0028 | -105 | c.484 others(7): Show |
p.Val others(13): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 770/4256 | 484/3429 | 162/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906015 | GCTCCTTC others(203): Show |
G | conservative_inframe_deletion | MODERATE | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 346 | 0.0029 | -210 | c.631 others(7): Show |
p.Leu others(13): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 917/4256 | 631/3429 | 211/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906041 | ATTTTCCA others(203): Show |
A | conservative_inframe_deletion | MODERATE | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 308 | 0.0032 | -210 | c.685 others(7): Show |
p.Ala others(13): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 971/4256 | 685/3429 | 229/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906119 | CCCTCCTC others(203): Show |
C | conservative_inframe_deletion | MODERATE | NA18950.hp1 | a0097 | a0097c0118 | a0097c0118t0001 | a0097c0118t0001g0001 | 1 | 226 | 0.0044 | -210 | c.736 others(7): Show |
p.Leu others(13): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1022/4256 | 736/3429 | 246/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906126 | CCTCCTCC others(98): Show |
C | conservative_inframe_deletion | MODERATE | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 262 | 0.0038 | -105 | c.736 others(7): Show |
p.Leu others(13): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1022/4256 | 736/3429 | 246/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906700 | AAGTGCTT others(98): Show |
A | conservative_inframe_deletion | MODERATE | HG02257.hp2 | a0069 | a0069c0088 | a0069c0088t0001 | a0069c0088t0001g0001 | 1 | 357 | 0.0028 | -105 | c.130 others(9): Show |
p.Ala others(13): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1586/4256 | 1300/3429 | 434/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAMDC2_chr9_70038848_70231972 | 70140212 | TAAA | T | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00438.hp2 HG00597.hp1 others(50): Show |
a0002a0011a0012others(1): Show | a0002c0002a0002c0008a0002c0019others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0008t0003others(5): Show | a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 others(50): Show |
53 | 338 | 0.1568 | -3 | c.106 others(12): Show |
p.Lys others(6): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 8/14 | 1413/3351 | 1063/2061 | 355/686 | chr9 | TogoVar | |||
MAML1_chr5_179727822_179782283 | 179733341 | CCGCCCGC others(14): Show |
C | conservative_inframe_deletion | MODERATE | HG02145.hp1 HG03516.hp2 |
a0007 | a0007c0024a0007c0025 | a0007c0024t0001a0007c0025t0001 | a0007c0024t0001g0034 a0007c0025t0001g0041 |
2 | 358 | 0.0056 | -21 | c.241 others(28): Show |
p.Thr others(11): Show |
MAML1 | ENSG00000161021.13 | transcript | ENST00000292599.4 | protein_coding | 1/5 | 532/5748 | 241/3051 | 81/1016 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
MAML3_chr4_139711753_140159184 | 139730430 | TCTG | T | conservative_inframe_deletion | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(145): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(93): Show | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0042 others(145): Show |
148 | 150 | 0.9867 | -3 | c.231 others(12): Show |
p.Gln others(6): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 3/5 | 3173/6844 | 2314/3417 | 772/1138 | chr4 | TogoVar | |||
MAP3K11_chr11_65592757_65619221 | 65606712 | GAAAGGTG others(5): Show |
G | conservative_inframe_deletion | MODERATE | NA18977.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0058 | 1 | 390 | 0.0026 | -12 | c.157 others(21): Show |
p.Ser others(13): Show |
MAP3K11 | ENSG00000173327.8 | transcript | ENST00000309100.8 | protein_coding | 6/10 | 2046/3543 | 1570/2544 | 524/847 | chr11 | TogoVar | |||
MAP3K13_chr3_185358136_185494094 | 185480514 | GGAA | G | conservative_inframe_deletion | MODERATE | HG02723.hp2 HG03139.hp2 HG06807.hp1 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0180 a0002c0005t0001g0255 a0002c0005t0001g0256 others(1): Show |
4 | 276 | 0.0145 | -3 | c.278 others(12): Show |
p.Glu others(6): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 13/14 | 3103/9857 | 2785/2901 | 929/966 | chr3 | TogoVar | |||
MAP3K1_chr5_56810549_56901152 | 56882021 | TCAA | T | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(243): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(32): Show | a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0025 others(220): Show |
246 | 382 | 0.6440 | -3 | c.284 others(12): Show |
p.Thr others(6): Show |
MAP3K1 | ENSG00000095015.6 | transcript | ENST00000399503.4 | protein_coding | 14/20 | 2870/7036 | 2845/4539 | 949/1512 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
MAP6D1_chr3_183810922_183830577 | 183825502 | AGCGCCGC others(20): Show |
A | conservative_inframe_deletion | MODERATE | NA19054.hp2 | a0004 | a0004c0009 | a0004c0009t0020 | a0004c0009t0020g0060 | 1 | 460 | 0.0022 | -27 | c.19_ others(32): Show |
p.Ser others(10): Show |
MAP6D1 | ENSG00000180834.8 | transcript | ENST00000318631.8 | protein_coding | 1/3 | 75/2064 | 19/600 | 7/199 | chr3 | TogoVar | |||
MAP7D1_chr1_36151160_36185849 | 36178099 | GAGA | G | conservative_inframe_deletion | MODERATE | HG00323.hp2 HG00597.hp1 HG00642.hp1 others(30): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 a0002c0003t0001g0015 a0002c0003t0001g0045 others(25): Show |
33 | 376 | 0.0878 | -3 | c.160 others(12): Show |
p.Lys others(6): Show |
MAP7D1 | ENSG00000116871.16 | transcript | ENST00000474796.2 | protein_coding | 9/17 | 1867/3372 | 1609/2523 | 537/840 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
MAP7_chr6_136337734_136555422 | 136362637 | GGGCTGGA others(11): Show |
G | conservative_inframe_deletion | MODERATE | HG00423.hp1 HG02080.hp1 HG02165.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0104 a0005c0005t0001g0105 a0005c0005t0001g0168 |
3 | 246 | 0.0122 | -18 | c.132 others(27): Show |
p.Ser others(13): Show |
MAP7 | ENSG00000135525.19 | transcript | ENST00000354570.8 | protein_coding | 11/18 | 1352/3758 | 1321/2250 | 441/749 | chr6 | TogoVar | |||
MED15_chr22_20502610_20592619 | 20566526 | ACAG | A | conservative_inframe_deletion | MODERATE | HG01978.hp1 HG02055.hp2 HG02572.hp1 others(6): Show |
a0003a0013 | a0003c0005a0003c0012a0003c0020others(1): Show | a0003c0005t0001a0003c0005t0002a0003c0005t0010others(3): Show | a0003c0005t0001g0015 a0003c0005t0001g0151 a0003c0005t0001g0261 others(6): Show |
9 | 277 | 0.0325 | -3 | c.784 others(10): Show |
p.Gln others(6): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 7/18 | 853/3351 | 784/2367 | 262/788 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
MED15_chr22_20502610_20592619 | 20566526 | ACAGCAGC others(2): Show |
A | conservative_inframe_deletion | MODERATE | HG02451.hp1 NA18995.hp1 NA19043.hp1 |
a0004 | a0004c0009a0004c0021 | a0004c0009t0001a0004c0021t0002 | a0004c0009t0001g0211 a0004c0009t0001g0212 a0004c0021t0002g0255 |
3 | 271 | 0.0111 | -9 | c.778 others(16): Show |
p.Gln others(13): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 7/18 | 847/3351 | 778/2367 | 260/788 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
MED15_chr22_20502610_20592619 | 20566526 | ACAGCAGC others(5): Show |
A | conservative_inframe_deletion | MODERATE | HG02572.hp2 HG02809.hp2 |
a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0273 a0006c0010t0001g0275 |
2 | 270 | 0.0074 | -12 | c.775 others(19): Show |
p.Gln others(13): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 7/18 | 844/3351 | 775/2367 | 259/788 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
MFHAS1_chr8_8778354_8898630 | 8892929 | CGGCCCCG others(5): Show |
C | conservative_inframe_deletion | MODERATE | HG00558.hp2 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0050 | 1 | 322 | 0.0031 | -12 | c.118 others(19): Show |
p.Cys others(11): Show |
MFHAS1 | ENSG00000147324.11 | transcript | ENST00000276282.7 | protein_coding | 1/3 | 701/6399 | 118/3159 | 40/1052 | chr8 | TogoVar | |||
MGAM_chr7_141990879_142111747 | 142008543 | GACAACTG others(17): Show |
G | conservative_inframe_deletion | MODERATE | NA18942.hp2 | a0036 | a0036c0030 | a0036c0030t0001 | a0036c0030t0001g0044 | 1 | 314 | 0.0032 | -24 | c.178 others(31): Show |
p.Pro others(11): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 3/71 | 232/9172 | 178/8262 | 60/2753 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MIB2_chr1_1610500_1635605 | 1628107 | ACATCGAT others(47): Show |
A | conservative_inframe_deletion | MODERATE | HG01255.hp2 | a0006 | a0006c0023 | a0006c0023t0002 | a0006c0023t0002g0117 | 1 | 410 | 0.0024 | -54 | c.177 others(63): Show |
p.Ile others(13): Show |
MIB2 | ENSG00000197530.13 | transcript | ENST00000355826.10 | protein_coding | 14/20 | 2034/3206 | 1771/2868 | 591/955 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
MICALL2_chr7_1429359_1464470 | 1442276 | AGGATTCC others(14): Show |
A | conservative_inframe_deletion | MODERATE | HG02083.hp2 | a0025 | a0025c0062 | a0025c0062t0001 | a0025c0062t0001g0155 | 1 | 278 | 0.0036 | -21 | c.160 others(30): Show |
p.Arg others(13): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 7/17 | 1770/3096 | 1606/2715 | 536/904 | chr7 | TogoVar | |||
MMP24OS_chr20_35271352_35283122 | 35277779 | CGGGCTG | C | conservative_inframe_deletion | MODERATE | HG02486.hp1 HG02630.hp2 HG02809.hp2 others(1): Show |
a0004a0006 | a0004c0006a0006c0013 | a0004c0006t0005a0004c0006t0011a0006c0013t0002 | a0004c0006t0005g0032 a0004c0006t0011g0015 a0006c0013t0002g0031 |
4 | 265 | 0.0151 | -6 | c.145 others(13): Show |
p.Gln others(11): Show |
MMP24OS | ENSG00000126005.17 | transcript | ENST00000456790.2 | protein_coding | 2/2 | 267/1695 | 145/216 | 49/71 | chr20 | TogoVar |