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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MRPS34_chr16_1766895_1778134 | 1772796 | C | CACCT | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0004g0012 others(6): Show |
169 | 434 | 0.3894 | 4 | c.320 others(13): Show |
MRPS34 | ENSG00000074071.15 | transcript | ENST00000397375.7 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
MS4A14_chr11_60391459_60422756 | 60397879 | ATT | A | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(248): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(87): Show |
251 | 426 | 0.5892 | -2 | c.167 others(9): Show |
p.Ile others(4): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 2/5 | 287/2908 | 167/2040 | 56/679 | chr11 | TogoVar | |||
NBPF19_chr1_149470045_149561361 | 149514836 | G | GTTTCTTA others(14264): Show |
stop_gained others(1): Show |
HIGH | NA18960.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0207 | 1 | 259 | 0.0039 | 14271 | c.516 others(14280): Show |
p.Leu others(14286): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 44/94 | 5953/13941 | 5167/11532 | 1723/3843 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(210): Show |
a0001a0008a0009 | a0001c0001a0008c0012a0009c0010 | a0001c0001t0001a0001c0001t0006a0008c0012t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(97): Show |
213 | 396 | 0.5379 | -1 | c.877 others(4): Show |
p.Thr others(5): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 10/16 | 989/2128 | 877/1521 | 293/506 | chr13 | TogoVar | |||
NEK3_chr13_52127647_52164597 | 52151143 | C | CA | splice_donor_variant others(1): Show |
HIGH | NA18944.hp1 NA18960.hp1 NA18963.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0015 | 4 | 396 | 0.0101 | 1 | c.548 others(6): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 7/15 | chr13 | TogoVar | |||||||
NFRKB_chr11_129858636_129900578 | 129881442 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18960.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0117 | 1 | 408 | 0.0025 | 0 | c.138 others(6): Show |
NFRKB | ENSG00000170322.15 | transcript | ENST00000682444.1 | protein_coding | 13/26 | chr11 | TogoVar | |||||||
NFRKB_chr11_129858636_129900578 | 129881473 | TGAATTCA others(4): Show |
T | frameshift_variant | HIGH | NA18960.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0117 | 1 | 408 | 0.0025 | -11 | c.134 others(20): Show |
p.Phe others(5): Show |
NFRKB | ENSG00000170322.15 | transcript | ENST00000682444.1 | protein_coding | 13/27 | 1537/5173 | 1343/3900 | 448/1299 | chr11 | TogoVar | |||
NLRP8_chr19_55942832_55993629 | 55987913 | G | C | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(250): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0008others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(80): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(222): Show |
253 | 348 | 0.7270 | 0 | c.314 others(4): Show |
p.Ter others(12): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 10/10 | 3218/3934 | 3147/3147 | 1049/1048 | chr19 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29382144 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(142): Show |
a0002a0003a0011others(15): Show | a0002c0002a0002c0041a0002c0065others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(36): Show | a0002c0002t0001g0077 a0002c0002t0001g0132 a0002c0002t0001g0133 others(140): Show |
145 | 426 | 0.3404 | 13 | c.278 others(22): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5534/6369 | 2787/3486 | 929/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29382270 | GAACCCAC others(6): Show |
G | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(146): Show |
a0002a0003a0011others(19): Show | a0002c0002a0002c0041a0002c0065others(28): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(40): Show | a0002c0002t0001g0077 a0002c0002t0001g0132 a0002c0002t0001g0133 others(144): Show |
149 | 426 | 0.3498 | -13 | c.264 others(22): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5408/6369 | 2649/3486 | 883/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29383167 | A | AC | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(71): Show |
a0002a0003a0005others(10): Show | a0002c0002a0002c0041a0003c0019others(13): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(18): Show | a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 others(71): Show |
74 | 414 | 0.1787 | 1 | c.176 others(5): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4511/6369 | 1764/3486 | 588/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29383290 | GC | G | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(69): Show |
a0002a0003a0011others(9): Show | a0002c0002a0002c0041a0003c0019others(12): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(17): Show | a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 others(69): Show |
72 | 424 | 0.1698 | -1 | c.164 others(5): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4388/6369 | 1641/3486 | 547/1161 | chr16 | TogoVar | |||
NUTM2A_chr10_87220448_87239978 | 87226077 | TC | T | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(74): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(158): Show |
381 | 402 | 0.9478 | -1 | c.250 others(4): Show |
p.Leu others(4): Show |
NUTM2A | ENSG00000184923.12 | transcript | ENST00000381707.6 | protein_coding | 1/7 | 633/3290 | 250/2637 | 84/878 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
OAS1_chr12_112901962_112924903 | 112919388 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(80): Show |
306 | 434 | 0.7051 | 0 | c.103 others(6): Show |
OAS1 | ENSG00000089127.15 | transcript | ENST00000202917.10 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
OR10D3_chr11_124178345_124193780 | 124186025 | T | G | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(32): Show | a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0025 others(45): Show |
237 | 434 | 0.5461 | 0 | c.756 others(3): Show |
p.Tyr others(4): Show |
OR10D3 | ENSG00000197309.5 | transcript | ENST00000641351.3 | protein_coding | 2/2 | 806/3561 | 756/939 | 252/312 | chr11 | TogoVar | |||
OR10V1_chr11_59707916_59718845 | 59713479 | G | A | stop_gained | HIGH | HG00438.hp2 HG00639.hp2 HG00733.hp2 others(33): Show |
a0001a0002a0006 | a0001c0015a0002c0002a0006c0010 | a0001c0015t0001a0002c0002t0001a0006c0010t0001 | a0001c0015t0001g0000 a0002c0002t0001g0000 a0006c0010t0001g0000 |
36 | 426 | 0.0845 | 0 | c.367 others(3): Show |
p.Gln others(4): Show |
OR10V1 | ENSG00000172289.3 | transcript | ENST00000307552.3 | protein_coding | 1/1 | 367/930 | 367/930 | 123/309 | chr11 | TogoVar | |||
OR10X1_chr1_158573919_158584899 | 158579702 | C | T | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(209): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0006t0001g0000 others(1): Show |
212 | 428 | 0.4953 | 0 | c.198 others(3): Show |
p.Trp others(3): Show |
OR10X1 | ENSG00000279111.2 | transcript | ENST00000623167.1 | protein_coding | 1/1 | 198/981 | 198/981 | 66/326 | chr1 | TogoVar | |||
OR11G2_chr14_20185896_20206075 | 20198016 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(101): Show |
274 | 478 | 0.5732 | 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 | ||
OR1R1P_chr17_3380930_3391874 | 3385989 | A | AACAG | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(198): Show |
a0001 | a0001c0001a0001c0010a0001c0011others(3): Show | a0001c0001t0001a0001c0010t0001a0001c0011t0001others(3): Show | a0001c0001t0001g0000 a0001c0010t0001g0000 a0001c0011t0001g0000 others(3): Show |
201 | 414 | 0.4855 | 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 | ||
OR1S1_chr11_58207720_58221084 | 58215722 | A | G | stop_lost | HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0001a0012 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(13): Show |
226 | 458 | 0.4935 | 0 | c.939 others(3): Show |
p.Ter others(11): Show |
OR1S1 | ENSG00000280204.4 | transcript | ENST00000641544.1 | protein_coding | 2/2 | 1112/1474 | 939/939 | 313/312 | chr11 | TogoVar | |||
OR2L8_chr1_247943858_247954796 | 247949724 | T | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0006t0001g0000 others(4): Show |
276 | 378 | 0.7302 | 0 | c.867 others(3): Show |
p.Tyr others(4): Show |
OR2L8 | ENSG00000279263.1 | transcript | ENST00000623922.1 | protein_coding | 1/1 | 867/939 | 867/939 | 289/312 | chr1 | TogoVar | |||
OR2T35_chr1_248631356_248650278 | 248638301 | T | TCA | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(298): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(91): Show |
301 | 306 | 0.9837 | 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 | 248638643 | TCAGCACG | T | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(296): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(91): Show |
299 | 308 | 0.9708 | -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 | |||
OR2T8_chr1_247915252_247928152 | 247921168 | C | CG | frameshift_variant | HIGH | HG02451.hp1 HG02647.hp1 HG02717.hp2 others(2): Show |
a0014 | a0014c0024a0014c0060a0014c0061 | a0014c0024t0001a0014c0060t0002a0014c0061t0002 | a0014c0024t0001g0001 a0014c0060t0002g0002 a0014c0061t0002g0002 |
5 | 424 | 0.0118 | 1 | c.151 others(8): Show |
p.His others(4): Show |
OR2T8 | ENSG00000177462.9 | transcript | ENST00000641945.2 | protein_coding | 2/2 | 439/2422 | 152/939 | 51/312 | chr1 | TogoVar | |||
OR4C16_chr11_55567128_55578060 | 55572176 | C | T | stop_gained | HIGH | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(113): Show |
a0002 | a0002c0002a0002c0009a0002c0021others(2): Show | a0002c0002t0001a0002c0009t0001a0002c0021t0001others(2): Show | a0002c0002t0001g0000 a0002c0009t0001g0000 a0002c0021t0001g0000 others(2): Show |
116 | 438 | 0.2648 | 0 | c.49C others(2): Show |
p.Gln others(3): Show |
OR4C16 | ENSG00000279514.2 | transcript | ENST00000623907.1 | protein_coding | 1/1 | 49/933 | 49/933 | 17/310 | chr11 | TogoVar | |||
OR4E1_chr14_21662886_21678818 | 21670348 | G | GGT | frameshift_variant | HIGH | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(151): Show |
a0001a0010a0012 | a0001c0001a0001c0012a0010c0014others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(11): Show |
154 | 452 | 0.3407 | 2 | c.586 others(9): Show |
p.His others(5): Show |
OR4E1 | ENSG00000276240.4 | transcript | ENST00000641792.2 | protein_coding | 2/2 | 1333/3796 | 587/948 | 196/315 | chr14 | TogoVar | |||
OR4F5_chr1_60419_76585 | 69849 | G | A | stop_gained | HIGH | HG01928.hp1 HG01981.hp1 HG01993.hp1 others(39): Show |
a0002a0011 | a0002c0002a0011c0016 | a0002c0002t0002a0002c0002t0012a0011c0016t0002 | a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0025 others(3): Show |
42 | 214 | 0.1963 | 0 | c.822 others(3): Show |
p.Trp others(4): Show |
OR4F5 | ENSG00000186092.7 | transcript | ENST00000641515.2 | protein_coding | 3/3 | 882/2618 | 822/981 | 274/326 | chr1 | TogoVar | |||
OR4L1_chr14_20055045_20065983 | 20060289 | TCATAGAT others(12): Show |
T | frameshift_variant | HIGH | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(235): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0005a0001c0008others(10): Show | a0001c0002t0001a0001c0005t0001a0001c0008t0001others(10): Show | a0001c0002t0001g0000 a0001c0005t0001g0000 a0001c0008t0001g0000 others(10): Show |
238 | 438 | 0.5434 | -19 | c.248 others(26): Show |
p.Ile others(4): Show |
OR4L1 | ENSG00000176246.1 | transcript | ENST00000315683.1 | protein_coding | 1/1 | 248/939 | 248/939 | 83/312 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
OR51A4_chr11_4937831_4952605 | 4946925 | TCATGCAA others(5673): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(134): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(8): Show | a0001c0001t0001g0001 a0001c0001t0007g0008 a0001c0001t0013g0015 others(8): Show |
137 | 434 | 0.3157 | -5680 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 298/4393 | chr11 | TogoVar | ||||||
OR51I1_chr11_5435570_5446514 | 5441472 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(81): Show |
a0003 | a0003c0003a0003c0007a0003c0018 | a0003c0003t0001a0003c0007t0001a0003c0018t0001 | a0003c0003t0001g0000 a0003c0007t0001g0000 a0003c0018t0001g0000 |
84 | 470 | 0.1787 | 0 | c.43C others(2): Show |
p.Gln others(3): Show |
OR51I1 | ENSG00000167359.8 | transcript | ENST00000380211.1 | protein_coding | 1/1 | 43/945 | 43/945 | 15/314 | chr11 | TogoVar | |||
OR51Q1_chr11_5417111_5428206 | 5422906 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(211): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0007 | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(1): Show | a0002c0002t0001g0000 a0002c0002t0003g0000 a0003c0003t0001g0000 others(1): Show |
214 | 452 | 0.4735 | 0 | c.706 others(3): Show |
p.Arg others(4): Show |
OR51Q1 | ENSG00000167360.6 | transcript | ENST00000300778.4 | protein_coding | 1/1 | 796/1096 | 706/954 | 236/317 | chr11 | TogoVar | |||
OR52B4_chr11_4362263_4373386 | 4368174 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(170): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0000 a0002c0002t0004g0000 |
173 | 464 | 0.3728 | -1 | c.121 others(4): Show |
p.Leu others(4): Show |
OR52B4 | ENSG00000221996.6 | transcript | ENST00000624801.3 | protein_coding | 1/1 | 212/1124 | 121/945 | 41/314 | chr11 | TogoVar | |||
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0005t0001g0000 others(2): Show |
303 | 430 | 0.7047 | 0 | c.55C others(2): Show |
p.Gln others(3): Show |
OR5AR1 | ENSG00000172459.5 | transcript | ENST00000624596.2 | protein_coding | 1/1 | 55/933 | 55/933 | 19/310 | chr11 | TogoVar | |||
OR6C1_chr12_55309343_55327364 | 55320622 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
a0002 | a0002c0002a0002c0005a0002c0007others(2): Show | a0002c0002t0001a0002c0005t0002a0002c0005t0004others(3): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(44): Show |
172 | 472 | 0.3644 | 1 | c.24d others(3): Show |
p.Glu others(3): Show |
OR6C1 | ENSG00000205330.4 | transcript | ENST00000642104.1 | protein_coding | 2/2 | 315/2055 | 25/939 | 9/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
OR6C76_chr12_55421254_55432192 | 55427174 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp2 HG00741.hp2 others(67): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0001 | a0002c0002t0001g0000 a0003c0004t0001g0000 |
70 | 435 | 0.1609 | -1 | c.933 others(4): Show |
p.Lys others(5): Show |
OR6C76 | ENSG00000185821.3 | transcript | ENST00000328314.3 | protein_coding | 1/1 | 933/939 | 933/939 | 311/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
OR7G3_chr19_9121012_9131950 | 9126022 | G | GATGGT | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0014a0003c0003others(3): Show | a0002c0002t0001a0002c0014t0001a0003c0003t0001others(3): Show | a0002c0002t0001g0000 a0002c0014t0001g0000 a0003c0003t0001g0000 others(3): Show |
177 | 400 | 0.4425 | 5 | c.924 others(12): Show |
p.Ser others(5): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 928/939 | 928/939 | 310/312 | chr19 | TogoVar | |||
OR8G1_chr11_124236095_124259364 | 124250452 | C | G | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0007 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(41): Show |
217 | 428 | 0.5070 | 0 | c.777 others(3): Show |
p.Tyr others(4): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1143/5055 | 777/936 | 259/311 | chr11 | TogoVar | |||
OR8G1_chr11_124236095_124259364 | 124250538 | TGATTTAT others(844): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0007 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(41): Show |
217 | 428 | 0.5070 | -851 | c.866 others(8): Show |
p.Ile others(5): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1232/5055 | 866/936 | 289/311 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
OR8H2_chr11_56098687_56112658 | 56104871 | G | A | splice_acceptor_variant others(1): Show |
HIGH | NA18960.hp1 NA18978.hp1 NA19005.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 8 | 450 | 0.0178 | 0 | c.-17 others(6): Show |
OR8H2 | ENSG00000181767.3 | transcript | ENST00000313503.2 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
PATE4_chr11_125828316_125845072 | 125837866 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(21): Show |
196 | 422 | 0.4645 | 0 | c.59- others(4): Show |
PATE4 | ENSG00000237353.7 | transcript | ENST00000457514.3 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98968575 | A | AC | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(165): Show |
a0002 | a0002c0002a0002c0005a0002c0010 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(16): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0004 others(158): Show |
168 | 396 | 0.4242 | 1 | c.331 others(4): Show |
p.Val others(5): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 5/5 | 1134/1481 | 331/429 | 111/142 | chr15 | TogoVar | |||
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(185): Show |
279 | 442 | 0.6312 | 25 | c.271 others(32): Show |
p.Gln others(4): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 4/27 | 281/3427 | 271/3114 | 91/1037 | chr10 | TogoVar | |||
PKD1_chr16_2083708_2140898 | 2103494 | TCTGGAAT others(6): Show |
T | frameshift_variant | HIGH | NA18960.hp2 | a0064 | a0064c0081 | a0064c0081t0001 | a0064c0081t0001g0033 | 1 | 214 | 0.0047 | -13 | c.855 others(22): Show |
p.Met others(6): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 23/46 | 8771/14140 | 8550/12912 | 2850/4303 | chr16 | TogoVar | |||
PLA2G2D_chr1_20106939_20124536 | 20119457 | A | C | splice_donor_variant others(1): Show |
HIGH | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 462 | 0.0022 | 0 | c.40+ others(4): Show |
PLA2G2D | ENSG00000117215.15 | transcript | ENST00000375105.8 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
PLEKHA2_chr8_38896346_38978912 | 38901439 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(333): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 others(330): Show |
336 | 372 | 0.9032 | 1 | c.-24 others(6): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PLK4_chr4_127875893_127904224 | 127891075 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(4): Show | a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0112 others(43): Show |
79 | 357 | 0.2213 | 1 | c.183 others(7): Show |
PLK4 | ENSG00000142731.11 | transcript | ENST00000270861.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PLK5_chr19_1519077_1541046 | 1534043 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show |
a0001a0006a0011others(1): Show | a0001c0001a0001c0007a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(149): Show |
210 | 428 | 0.4907 | 0 | c.825 others(5): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 13/13 | chr19 | TogoVar | |||||||
PMIS2_chr19_35581173_35592296 | 35586327 | CT | C | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(69): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0009 others(2): Show |
72 | 442 | 0.1629 | -1 | c.69d others(3): Show |
p.Thr others(4): Show |
PMIS2 | ENSG00000283758.2 | transcript | ENST00000640449.2 | protein_coding | 1/2 | 156/690 | 69/453 | 23/150 | chr19 | TogoVar | |||
POMZP3_chr7_76604986_76632279 | 76611468 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(208): Show |
a0002a0004a0005others(3): Show | a0002c0002a0002c0007a0002c0009others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(25): Show | a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 others(182): Show |
211 | 422 | 0.5000 | -1 | c.560 others(4): Show |
p.Leu others(5): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 6/7 | 1283/1528 | 560/564 | 187/187 | chr7 | TogoVar | |||
PPEF2_chr4_75854867_75907452 | 75860716 | T | TGTGGGCA others(9): Show |
frameshift_variant | HIGH | NA18960.hp1 | a0015 | a0015c0022 | a0015c0022t0001 | a0015c0022t0001g0056 | 1 | 268 | 0.0037 | 16 | c.219 others(25): Show |
p.Gln others(5): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 17/17 | 2493/3343 | 2212/2262 | 738/753 | chr4 | TogoVar |