regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OPN1MW3_chrX_154252582_154276090 | 154268584 | AC | A | frameshift_variant | HIGH | HG02486.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0004 | 1 | 7 | 0.1429 | -1 | c.979 others(4): Show |
p.Arg others(5): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/6 | 1017/1239 | 979/1095 | 327/364 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OPN1MW3_chrX_154252582_154276090 | 154270917 | A | AT | frameshift_variant | HIGH | HG02145.hp1 | a0006 | a0006c0003 | a0006c0003t0002 | a0006c0003t0002g0005 | 1 | 7 | 0.1429 | 1 | c.102 others(5): Show |
p.Gly others(5): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 6/6 | 1068/1239 | 1030/1095 | 344/364 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OPN1MW3_chrX_154252582_154276090 | 154270949 | G | GA | frameshift_variant | HIGH | HG02145.hp1 | a0006 | a0006c0003 | a0006c0003t0002 | a0006c0003t0002g0005 | 1 | 7 | 0.1429 | 1 | c.106 others(5): Show |
p.Val others(5): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 6/6 | 1100/1239 | 1062/1095 | 354/364 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OPN1MW_chrX_154177596_154201861 | 154182681 | G | GC | frameshift_variant | HIGH | HG01496.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0008 | 1 | 63 | 0.0159 | 1 | c.7du others(2): Show |
p.Gln others(3): Show |
OPN1MW | ENSG00000268221.6 | transcript | ENST00000595290.6 | protein_coding | 1/6 | 90/1998 | 8/1095 | 3/364 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OPN1MW_chrX_154177596_154201861 | 154193553 | A | AC | frameshift_variant | HIGH | HG01192.hp1 | a0009 | a0009c0009 | a0009c0009t0004 | a0009c0009t0004g0030 | 1 | 63 | 0.0159 | 1 | c.894 others(4): Show |
p.Phe others(5): Show |
OPN1MW | ENSG00000268221.6 | transcript | ENST00000595290.6 | protein_coding | 5/6 | 977/1998 | 895/1095 | 299/364 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OPTC_chr1_203489153_203513949 | 203496106 | TGCCCAGG others(18): Show |
T | frameshift_variant | HIGH | HG02132.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0048 | 1 | 406 | 0.0025 | -25 | c.103 others(32): Show |
p.Pro others(4): Show |
OPTC | ENSG00000188770.10 | transcript | ENST00000367222.7 | protein_coding | 2/8 | 209/1434 | 103/999 | 35/332 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
OR10AD1_chr12_48197339_48208292 | 48203092 | C | CA | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(74): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 77 | 414 | 0.1860 | 1 | c.200 others(4): Show |
p.Ser others(4): Show |
OR10AD1 | ENSG00000172640.4 | transcript | ENST00000310248.4 | protein_coding | 1/1 | 200/954 | 200/954 | 67/317 | chr12 | TogoVar | ||
OR10H3_chr19_15732985_15747343 | 15742274 | AAGGAACA others(3): Show |
A | frameshift_variant | HIGH | NA18965.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0005 | 1 | 418 | 0.0024 | -10 | c.885 others(17): Show |
p.Arg others(5): Show |
OR10H3 | ENSG00000171936.3 | transcript | ENST00000641646.1 | protein_coding | 2/2 | 963/1029 | 885/951 | 295/316 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
OR11G2_chr14_20185896_20206075 | 20197747 | C | CA | frameshift_variant | HIGH | HG01109.hp2 HG03130.hp2 HG03225.hp2 others(3): Show |
a0008 | a0008c0008 | a0008c0008t0026a0008c0008t0029 | a0008c0008t0026g0036a0008c0008t0026g0080a0008c0008t0029g0014 | 6 | 482 | 0.0125 | 1 | c.311 others(4): Show |
p.Phe others(5): Show |
OR11G2 | ENSG00000196832.5 | transcript | ENST00000641879.2 | protein_coding | 2/2 | 1087/4413 | 312/936 | 104/311 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
OR11G2_chr14_20185896_20206075 | 20198016 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(101): Show | 275 | 482 | 0.5705 | 1 | c.585 others(4): Show |
p.Gly others(5): Show |
OR11G2 | ENSG00000196832.5 | transcript | ENST00000641879.2 | protein_coding | 2/2 | 1361/4413 | 586/936 | 196/311 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
OR13A1_chr10_45297650_45320608 | 45303617 | T | TA | frameshift_variant | HIGH | HG01099.hp2 HG01106.hp1 HG01167.hp1 others(5): Show |
a0000 | a0000c0004a0000c0014 | a0000c0004t0001a0000c0014t0001 | a0000c0004t0001g0012a0000c0014t0001g0078 | 8 | 421 | 0.0190 | 1 | c.805 others(4): Show |
p.Tyr others(5): Show |
OR13A1 | ENSG00000256574.8 | transcript | ENST00000553795.6 | protein_coding | 4/4 | 1114/2082 | 805/987 | 269/328 | chr10 | TogoVar | ||
OR13C2_chr9_104599671_104610627 | 104605111 | TGTTA | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(171): Show |
a0002a0006a0007others(2): Show | a0002c0001a0002c0005a0002c0010others(4): Show | a0002c0001t0000a0002c0005t0000a0002c0010t0000others(4): Show | a0002c0001t0000g0000a0002c0005t0000g0000a0002c0010t0000g0000others(4): Show | 174 | 412 | 0.4223 | -4 | c.513 others(11): Show |
p.Asn others(5): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 516/957 | 513/957 | 171/318 | chr9 | TogoVar | ||
OR13C2_chr9_104599671_104610627 | 104605383 | AGC | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(204): Show |
a0002a0003a0006others(3): Show | a0002c0001a0002c0005a0002c0010others(8): Show | a0002c0001t0000a0002c0005t0000a0002c0010t0000others(8): Show | a0002c0001t0000g0000a0002c0005t0000g0000a0002c0010t0000g0000others(8): Show | 207 | 412 | 0.5024 | -2 | c.243 others(9): Show |
p.Leu others(4): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 244/957 | 243/957 | 81/318 | chr9 | TogoVar | ||
OR13C2_chr9_104599671_104610627 | 104605385 | CGTGGAGG others(5235): Show |
C | frameshift_variant others(1): Show |
HIGH | NA19043.hp2 | a0010 | a0010c0016 | a0010c0016t0000 | a0010c0016t0000g0000 | 1 | 412 | 0.0024 | -5242 | c.-50 others(9): Show |
p.Met others(3): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 242/957 | 1/957 | 1/318 | chr9 | TogoVar | ||
OR13C5_chr9_104593457_104604413 | 104598487 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(209): Show |
a0001a0004a0005others(5): Show | a0001c0001a0004c0004a0005c0005others(5): Show | a0001c0001t0000a0004c0004t0000a0005c0005t0000others(5): Show | a0001c0001t0000g0000a0004c0004t0000g0000a0005c0005t0000g0000others(5): Show | 212 | 424 | 0.5000 | -1 | c.926 others(4): Show |
p.His others(5): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 926/957 | 926/957 | 309/318 | chr9 | TogoVar | ||
OR13D1_chr9_104689518_104700462 | 104695275 | G | GTGAA | frameshift_variant | HIGH | HG01255.hp2 HG01884.hp2 HG02257.hp2 others(3): Show |
a0005 | a0005c0006 | a0005c0006t0000 | a0005c0006t0000g0000 | 6 | 396 | 0.0152 | 4 | c.759 others(11): Show |
p.Ser others(5): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 1/1 | 760/945 | 760/945 | 254/314 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
OR13D1_chr9_104689518_104700462 | 104695393 | C | CAGGAATA others(40): Show |
frameshift_variant others(1): Show |
HIGH | HG03704.hp1 | a0014 | a0014c0020 | a0014c0020t0000 | a0014c0020t0000g0000 | 1 | 396 | 0.0025 | 47 | c.877 others(54): Show |
p.His others(5): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 1/1 | 924/945 | 924/945 | 308/314 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
OR13J1_chr9_35864463_35875401 | 35869752 | GACAGGCA others(16): Show |
G | frameshift_variant | HIGH | HG01952.hp1 | a0004 | a0004c0008 | a0004c0008t0000 | a0004c0008t0000g0000 | 1 | 462 | 0.0022 | -23 | c.627 others(30): Show |
p.Pro others(5): Show |
OR13J1 | ENSG00000168828.6 | transcript | ENST00000377981.4 | protein_coding | 1/1 | 649/939 | 627/939 | 209/312 | chr9 | TogoVar | ||
OR14C36_chr1_248343775_248354713 | 248349637 | AC | A | frameshift_variant | HIGH | HG00673.hp1 HG02155.hp2 HG02165.hp2 others(10): Show |
a0004 | a0004c0004 | a0004c0004t0000 | a0004c0004t0000g0000 | 13 | 448 | 0.0290 | -1 | c.864 others(4): Show |
p.Tyr others(5): Show |
OR14C36 | ENSG00000177174.1 | transcript | ENST00000317861.1 | protein_coding | 1/1 | 864/939 | 864/939 | 288/312 | chr1 | TogoVar | ||
OR14L1_chr1_247612143_247627372 | 247620299 | A | AT | frameshift_variant | HIGH | HG00735.hp1 HG02258.hp2 HG02486.hp2 others(8): Show |
a0003a0006 | a0003c0004a0006c0011a0006c0012 | a0003c0004t0006a0003c0004t0016a0006c0011t0006others(1): Show | a0003c0004t0006g0007a0003c0004t0006g0021a0003c0004t0006g0039others(3): Show | 11 | 434 | 0.0254 | 1 | c.721 others(4): Show |
p.Ser others(5): Show |
OR14L1 | ENSG00000198452.8 | transcript | ENST00000641545.1 | protein_coding | 2/2 | 943/3009 | 722/978 | 241/325 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
OR1A2_chr17_3192519_3203448 | 3197530 | A | ATTTTCTT others(36): Show |
frameshift_variant | HIGH | HG03225.hp1 | a0010 | a0010c0012 | a0010c0012t0000 | a0010c0012t0000g0000 | 1 | 430 | 0.0023 | 43 | c.12_ others(48): Show |
p.Asn others(3): Show |
OR1A2 | ENSG00000172150.4 | transcript | ENST00000381951.1 | protein_coding | 1/1 | 13/930 | 13/930 | 5/309 | chr17 | TogoVar | ||
OR1A2_chr17_3192519_3203448 | 3197642 | AATCTGCT others(4): Show |
A | frameshift_variant | HIGH | HG02486.hp2 HG02897.hp1 HG03516.hp1 others(1): Show |
a0007 | a0007c0008 | a0007c0008t0000 | a0007c0008t0000g0000 | 4 | 430 | 0.0093 | -11 | c.129 others(18): Show |
p.Leu others(4): Show |
OR1A2 | ENSG00000172150.4 | transcript | ENST00000381951.1 | protein_coding | 1/1 | 129/930 | 129/930 | 43/309 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
OR1A2_chr17_3192519_3203448 | 3197662 | CATCTGTG others(27): Show |
C | frameshift_variant | HIGH | HG03225.hp1 | a0010 | a0010c0012 | a0010c0012t0000 | a0010c0012t0000g0000 | 1 | 430 | 0.0023 | -34 | c.147 others(41): Show |
p.Cys others(4): Show |
OR1A2 | ENSG00000172150.4 | transcript | ENST00000381951.1 | protein_coding | 1/1 | 147/930 | 147/930 | 49/309 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
OR1B1_chr9_122623125_122662627 | 122629491 | C | CA | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(155): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0023others(98): Show | 158 | 420 | 0.3762 | 1 | c.41d others(3): Show |
p.Leu others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 574/1941 | 41/954 | 14/317 | chr9 | TogoVar | ||
OR1D5_chr17_3057669_3068607 | 3063249 | TA | T | frameshift_variant | HIGH | HG01070.hp1 HG02109.hp2 HG02615.hp1 others(6): Show |
a0005 | a0005c0006 | a0005c0006t0000 | a0005c0006t0000g0000 | 9 | 444 | 0.0203 | -1 | c.358 others(4): Show |
p.Tyr others(5): Show |
OR1D5 | ENSG00000262628.1 | transcript | ENST00000575751.1 | protein_coding | 1/1 | 358/939 | 358/939 | 120/312 | chr17 | TogoVar | ||
OR1E2_chr17_3427870_3438841 | 3433106 | CCTTGCAG others(3): Show |
C | frameshift_variant | HIGH | HG01884.hp1 HG02280.hp2 HG02965.hp1 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0000 | a0003c0004t0000g0000 | 10 | 448 | 0.0223 | -10 | c.726 others(17): Show |
p.Ile others(5): Show |
OR1E2 | ENSG00000127780.3 | transcript | ENST00000248384.1 | protein_coding | 1/1 | 735/972 | 726/972 | 242/323 | chr17 | TogoVar | ||
OR1J2_chr9_122505802_122516743 | 122511106 | A | AT | frameshift_variant | HIGH | HG00642.hp2 HG00735.hp2 HG00738.hp1 others(12): Show |
a0004 | a0004c0004a0004c0012 | a0004c0004t0000a0004c0012t0000 | a0004c0004t0000g0000a0004c0012t0000g0000 | 15 | 468 | 0.0321 | 1 | c.312 others(4): Show |
p.Ile others(5): Show |
OR1J2 | ENSG00000197233.7 | transcript | ENST00000335302.5 | protein_coding | 1/1 | 313/942 | 313/942 | 105/313 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
OR1L3_chr9_122670130_122681104 | 122675368 | AGATGCTC others(13): Show |
A | frameshift_variant | HIGH | HG01071.hp2 | a0012 | a0012c0010 | a0012c0010t0000 | a0012c0010t0000g0000 | 1 | 380 | 0.0026 | -20 | c.240 others(27): Show |
p.Lys others(4): Show |
OR1L3 | ENSG00000171481.5 | transcript | ENST00000304820.5 | protein_coding | 1/1 | 240/975 | 240/975 | 80/324 | chr9 | TogoVar | ||
OR1R1P_chr17_3380930_3391874 | 3385989 | A | AACAG | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(198): Show |
a0001 | a0001c0001a0001c0010a0001c0011others(3): Show | a0001c0001t0000a0001c0010t0000a0001c0011t0000others(3): Show | a0001c0001t0000g0000a0001c0010t0000g0000a0001c0011t0000g0000others(3): Show | 201 | 416 | 0.4832 | 4 | c.63_ others(9): Show |
p.Ala others(4): Show |
OR1R1P | ENSG00000180042.5 | transcript | ENST00000572493.2 | protein_coding | 1/1 | 67/945 | 67/945 | 23/314 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
OR2A42_chr7_144223244_144244605 | 144232531 | TCAAA | T | frameshift_variant | HIGH | HG02109.hp1 HG02257.hp2 HG02896.hp1 others(1): Show |
a0004a0008 | a0004c0007a0008c0013 | a0004c0007t0014a0004c0007t0083a0008c0013t0084 | a0004c0007t0014g0009a0004c0007t0083g0078a0008c0013t0084g0079 | 4 | 162 | 0.0247 | -4 | c.309 others(11): Show |
p.Cys others(5): Show |
OR2A42 | ENSG00000212807.3 | transcript | ENST00000641810.1 | protein_coding | 3/3 | 658/4946 | 309/933 | 103/310 | chr7 | TogoVar | ||
OR2A5_chr7_144043948_144063845 | 144050729 | ACT | A | frameshift_variant | HIGH | HG01952.hp1 HG02258.hp1 HG02818.hp1 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0014a0003c0004t0080a0003c0004t0081 | a0003c0004t0014g0003a0003c0004t0080g0003a0003c0004t0081g0003 | 7 | 420 | 0.0167 | -2 | c.329 others(9): Show |
p.Thr others(5): Show |
OR2A5 | ENSG00000221836.4 | transcript | ENST00000641693.1 | protein_coding | 2/2 | 566/8681 | 329/936 | 110/311 | chr7 | TogoVar | ||
OR2AP1_chr12_55567468_55580612 | 55575082 | TTCTGAAG others(3): Show |
T | frameshift_variant | HIGH | NA18967.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0006 | 1 | 478 | 0.0021 | -10 | c.669 others(17): Show |
p.Leu others(5): Show |
OR2AP1 | ENSG00000179615.3 | transcript | ENST00000641114.1 | protein_coding | 2/2 | 1019/1548 | 669/930 | 223/309 | chr12 | TogoVar | ||
OR2B11_chr1_247444182_247463104 | 247451959 | GA | G | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(217): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(71): Show | a0001c0002t0001g0001a0001c0002t0001g0046a0001c0002t0001g0114others(80): Show | 220 | 478 | 0.4603 | -1 | c.23d others(3): Show |
p.Phe others(3): Show |
OR2B11 | ENSG00000177535.10 | transcript | ENST00000641149.2 | protein_coding | 2/2 | 3571/6349 | 23/954 | 8/317 | chr1 | TogoVar | ||
OR2C1_chr16_3350889_3362306 | 3356756 | GT | G | frameshift_variant | HIGH | HG02027.hp2 HG02080.hp2 HG02300.hp1 others(12): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0000 | 15 | 432 | 0.0347 | -1 | c.818 others(4): Show |
p.Phe others(5): Show |
OR2C1 | ENSG00000168158.4 | transcript | ENST00000304936.4 | protein_coding | 1/1 | 870/1418 | 818/939 | 273/312 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
OR2D2_chr11_6886574_6897500 | 6891690 | ATT | A | frameshift_variant | HIGH | HG01109.hp1 HG02109.hp2 HG02257.hp2 others(12): Show |
a0005a0011 | a0005c0006a0011c0016 | a0005c0006t0000a0011c0016t0000 | a0005c0006t0000g0000a0011c0016t0000g0000 | 15 | 482 | 0.0311 | -2 | c.809 others(9): Show |
p.Lys others(5): Show |
OR2D2 | ENSG00000166368.3 | transcript | ENST00000299459.3 | protein_coding | 1/1 | 810/927 | 809/927 | 270/308 | chr11 | TogoVar | ||
OR2D3_chr11_6916002_6926994 | 6921357 | TC | T | frameshift_variant | HIGH | HG00733.hp2 HG01256.hp1 HG01258.hp2 others(12): Show |
a0005 | a0005c0005a0005c0013 | a0005c0005t0000a0005c0013t0000 | a0005c0005t0000g0000a0005c0013t0000g0000 | 15 | 466 | 0.0322 | -1 | c.357 others(4): Show |
p.Leu others(5): Show |
OR2D3 | ENSG00000178358.5 | transcript | ENST00000317834.5 | protein_coding | 1/1 | 357/993 | 357/993 | 119/330 | chr11 | TogoVar | ||
OR2T11_chr1_248618557_248640091 | 248626807 | CAG | C | frameshift_variant | HIGH | HG01433.hp1 HG01891.hp1 HG02723.hp2 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0006a0004c0005t0014a0004c0005t0028 | a0004c0005t0006g0015a0004c0005t0006g0016a0004c0005t0014g0026others(1): Show | 6 | 314 | 0.0191 | -2 | c.320 others(9): Show |
p.Ser others(5): Show |
OR2T11 | ENSG00000279301.5 | transcript | ENST00000641193.1 | protein_coding | 2/2 | 519/3770 | 320/951 | 107/316 | chr1 | TogoVar | ||
OR2T12_chr1_248285139_248308424 | 248294830 | TAA | T | frameshift_variant | HIGH | HG01109.hp2 HG01928.hp2 HG02074.hp1 others(10): Show |
a0005 | a0005c0005 | a0005c0005t0003a0005c0005t0023 | a0005c0005t0003g0005a0005c0005t0003g0053a0005c0005t0003g0055others(1): Show | 13 | 406 | 0.0320 | -2 | c.747 others(9): Show |
p.Phe others(5): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3/3 | 1016/5708 | 747/963 | 249/320 | chr1 | TogoVar | ||
OR2T12_chr1_248285139_248308424 | 248295573 | CT | C | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(97): Show |
a0002 | a0002c0002a0002c0031a0002c0032others(2): Show | a0002c0002t0002a0002c0002t0026a0002c0002t0033others(7): Show | a0002c0002t0002g0002a0002c0002t0002g0004a0002c0002t0002g0011others(17): Show | 100 | 406 | 0.2463 | -1 | c.5de others(2): Show |
p.Glu others(3): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3/3 | 273/5708 | 5/963 | 2/320 | chr1 | TogoVar | ||
OR2T27_chr1_248644838_248660528 | 248650008 | T | TA | frameshift_variant | HIGH | HG01243.hp1 HG01884.hp1 HG02055.hp1 others(19): Show |
a0009a0010a0016others(7): Show | a0009c0010a0010c0015a0010c0051others(8): Show | a0009c0010t0004a0010c0015t0004a0010c0015t0011others(9): Show | a0009c0010t0004g0010a0010c0015t0004g0024a0010c0015t0011g0128others(10): Show | 22 | 384 | 0.0573 | 1 | c.876 others(4): Show |
p.Arg others(5): Show |
OR2T27 | ENSG00000187701.5 | transcript | ENST00000460972.4 | protein_coding | 2/2 | 965/1136 | 876/954 | 292/317 | chr1 | TogoVar | ||
OR2T27_chr1_248644838_248660528 | 248650802 | AAG | A | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp2 HG01258.hp2 others(16): Show |
a0004a0019a0026others(1): Show | a0004c0008a0004c0032a0004c0078others(5): Show | a0004c0008t0002a0004c0008t0009a0004c0032t0002others(7): Show | a0004c0008t0002g0007a0004c0008t0002g0027a0004c0008t0002g0047others(9): Show | 19 | 384 | 0.0495 | -2 | c.81_ others(7): Show |
p.Phe others(4): Show |
OR2T27 | ENSG00000187701.5 | transcript | ENST00000460972.4 | protein_coding | 2/2 | 171/1136 | 81/954 | 27/317 | chr1 | TogoVar | ||
OR2T2_chr1_248440637_248460725 | 248453429 | CTCTA | C | frameshift_variant | HIGH | HG02027.hp2 NA18964.hp1 NA18971.hp1 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0001a0004c0005t0001g0106 | 6 | 329 | 0.0182 | -4 | c.636 others(11): Show |
p.Val others(5): Show |
OR2T2 | ENSG00000196240.6 | transcript | ENST00000641925.2 | protein_coding | 4/4 | 1113/3405 | 636/975 | 212/324 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
OR2T2_chr1_248440637_248460725 | 248453739 | C | CATCAGGG others(46): Show |
frameshift_variant others(1): Show |
HIGH | HG02257.hp2 | a0013 | a0013c0018 | a0013c0018t0036 | a0013c0018t0036g0092 | 1 | 329 | 0.0030 | 53 | c.951 others(60): Show |
p.Ala others(5): Show |
OR2T2 | ENSG00000196240.6 | transcript | ENST00000641925.2 | protein_coding | 4/4 | 1429/3405 | 952/975 | 318/324 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
OR2T2_chr1_248440637_248460725 | 248453739 | C | CATCAGGG others(46): Show |
frameshift_variant others(1): Show |
HIGH | HG02258.hp2 | a0012 | a0012c0019 | a0012c0019t0017 | a0012c0019t0017g0128 | 1 | 329 | 0.0030 | 53 | c.960 others(60): Show |
p.Ile others(5): Show |
OR2T2 | ENSG00000196240.6 | transcript | ENST00000641925.2 | protein_coding | 4/4 | 1438/3405 | 961/975 | 321/324 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
OR2T33_chr1_248264917_248282976 | 248273662 | G | GC | frameshift_variant | HIGH | HG01109.hp1 NA18945.hp2 NA18955.hp1 others(2): Show |
a0010a0022 | a0010c0008a0022c0026 | a0010c0008t0003a0022c0026t0019 | a0010c0008t0003g0014a0022c0026t0019g0044 | 5 | 406 | 0.0123 | 1 | c.152 others(8): Show |
p.His others(4): Show |
OR2T33 | ENSG00000177212.4 | transcript | ENST00000641220.1 | protein_coding | 2/2 | 372/4118 | 152/963 | 51/320 | chr1 | TogoVar | ||
OR2T35_chr1_248631356_248650278 | 248638301 | T | TCA | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(298): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 301 | 309 | 0.9741 | 2 | c.956 others(9): Show |
p.Ile others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 1011/2957 | 957/972 | 319/323 | chr1 | TogoVar | ||
OR2T35_chr1_248631356_248650278 | 248638622 | CAGAT | C | frameshift_variant | HIGH | HG01433.hp2 HG01891.hp1 HG03225.hp1 others(2): Show |
a0002 | a0002c0007a0002c0010 | a0002c0007t0007a0002c0010t0012 | a0002c0007t0007g0030a0002c0007t0007g0033a0002c0007t0007g0074others(2): Show | 5 | 309 | 0.0162 | -4 | c.633 others(11): Show |
p.Val others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 690/2957 | 633/972 | 211/323 | chr1 | TogoVar | ||
OR2T35_chr1_248631356_248650278 | 248638643 | TCAGCACG | T | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(296): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 299 | 309 | 0.9676 | -7 | c.609 others(14): Show |
p.Cys others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 669/2957 | 609/972 | 203/323 | chr1 | TogoVar | ||
OR2T4_chr1_248356665_248367627 | 248361635 | ATGGGACT others(77): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(104): Show |
a0003a0006 | a0003c0003a0003c0009a0006c0007 | a0003c0003t0000a0003c0009t0000a0006c0007t0000 | a0003c0003t0000g0000a0003c0009t0000g0000a0006c0007t0000g0000 | 107 | 428 | 0.2500 | -84 | c.-29 others(90): Show |
p.Met others(3): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 1/963 | 1/320 | chr1 | TogoVar | |||
OR2T4_chr1_248356665_248367627 | 248361985 | CTACG | C | frameshift_variant | HIGH | HG01261.hp2 HG01884.hp2 HG01891.hp1 others(11): Show |
a0005 | a0005c0006 | a0005c0006t0000 | a0005c0006t0000g0000 | 14 | 428 | 0.0327 | -4 | c.323 others(11): Show |
p.Tyr others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 323/963 | 323/963 | 108/320 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |