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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUTM2A_chr10_87220448_87239978 | 87226077 | TC | T | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(74): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 381 | 403 | 0.9454 | -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(304): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(80): Show | 307 | 436 | 0.7041 | 0 | c.103 others(6): Show |
OAS1 | ENSG00000089127.15 | transcript | ENST00000202917.10 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
OR10A3_chr11_7932171_7946708 | 7939699 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG01074.hp2 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0040a0001c0001t0019g0075 | 3 | 447 | 0.0067 | 0 | c.-17 others(6): Show |
OR10A3 | ENSG00000170683.7 | transcript | ENST00000642047.1 | protein_coding | 1/1 | chr11 | 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 | ||
OR10X1_chr1_158573919_158584899 | 158579702 | C | T | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(209): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0000a0001c0004t0000a0001c0006t0000others(1): Show | a0001c0001t0000g0000a0001c0004t0000g0000a0001c0006t0000g0000others(1): Show | 212 | 430 | 0.4930 | 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(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 | |
OR1B1_chr9_122623125_122662627 | 122628962 | G | A | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(158): Show |
a0002a0003a0006 | a0002c0002a0002c0016a0002c0017others(2): Show | a0002c0002t0002a0002c0002t0012a0002c0016t0002others(3): Show | a0002c0002t0002g0001a0002c0002t0002g0007a0002c0002t0002g0021others(81): Show | 161 | 420 | 0.3833 | 0 | c.571 others(3): Show |
p.Arg others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 1104/1941 | 571/954 | 191/317 | 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 | |
OR1S1_chr11_58207720_58221084 | 58215722 | A | G | stop_lost | HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0000 | a0000c0001a0000c0006a0000c0010others(1): Show | a0000c0001t0001a0000c0001t0006a0000c0001t0010others(3): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0007others(13): Show | 226 | 460 | 0.4913 | 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 | a0001c0001t0000a0001c0002t0000a0001c0006t0000others(4): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0006t0000g0000others(4): Show | 276 | 379 | 0.7282 | 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(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 | 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 | 248362336 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(155): Show |
a0001a0010 | a0001c0001a0001c0011a0001c0014others(1): Show | a0001c0001t0000a0001c0011t0000a0001c0014t0000others(1): Show | a0001c0001t0000g0000a0001c0011t0000g0000a0001c0014t0000g0000others(1): Show | 158 | 428 | 0.3692 | -1 | c.673 others(4): Show |
p.Ile others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 673/963 | 673/963 | 225/320 | 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 | a0002c0002t0000a0002c0009t0000a0002c0021t0000others(2): Show | a0002c0002t0000g0000a0002c0009t0000g0000a0002c0021t0000g0000others(2): Show | 116 | 440 | 0.2636 | 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 | ||
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 | a0001c0002t0000a0001c0005t0000a0001c0008t0000others(10): Show | a0001c0002t0000g0000a0001c0005t0000g0000a0001c0008t0000g0000others(10): Show | 238 | 440 | 0.5409 | -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 | |
OR4X1_chr11_48258861_48269778 | 48264679 | T | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(224): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0005a0002c0007others(7): Show | a0002c0002t0000a0002c0005t0000a0002c0007t0000others(7): Show | a0002c0002t0000g0000a0002c0005t0000g0000a0002c0007t0000g0000others(7): Show | 227 | 402 | 0.5647 | 0 | c.819 others(3): Show |
p.Tyr others(4): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 1/1 | 819/918 | 819/918 | 273/305 | chr11 | TogoVar | ||
OR51A4_chr11_4937831_4952605 | 4946925 | TCATGCAA others(5673): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(135): Show |
a0002a0010a0017 | a0002c0002a0010c0008a0017c0017 | a0002c0002t0001a0002c0002t0008a0002c0002t0022others(8): Show | a0002c0002t0001g0001a0002c0002t0008g0009a0002c0002t0022g0017others(8): Show | 138 | 446 | 0.3094 | -5680 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 298/4393 | chr11 | TogoVar | |||||
OR52D1_chr11_5483685_5494749 | 5489310 | G | GGGCT | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(45): Show |
a0004a0012 | a0004c0006a0004c0017a0004c0018others(1): Show | a0004c0006t0001a0004c0017t0001a0004c0018t0001others(1): Show | a0004c0006t0001g0000a0004c0017t0001g0000a0004c0018t0001g0000others(1): Show | 48 | 470 | 0.1021 | 4 | c.605 others(11): Show |
p.Thr others(5): Show |
OR52D1 | ENSG00000181609.5 | transcript | ENST00000322641.5 | protein_coding | 1/1 | 631/1065 | 609/957 | 203/318 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR52E8_chr11_5851749_5862690 | 5856749 | T | A | stop_lost others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(166): Show |
a0000 | a0000c0002a0000c0003a0000c0006others(2): Show | a0000c0002t0000a0000c0003t0000a0000c0006t0000others(2): Show | a0000c0002t0000g0000a0000c0003t0000g0000a0000c0006t0000g0000others(2): Show | 169 | 436 | 0.3876 | 0 | c.942 others(3): Show |
p.Ter others(11): Show |
OR52E8 | ENSG00000183269.6 | transcript | ENST00000537935.2 | protein_coding | 1/1 | 942/942 | 942/942 | 314/313 | 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 | a0001c0001t0000a0001c0003t0000a0001c0005t0000others(2): Show | a0001c0001t0000g0000a0001c0003t0000g0000a0001c0005t0000g0000others(2): Show | 303 | 432 | 0.7014 | 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 | ||
OR5K3_chr3_98385666_98396631 | 98391562 | G | GA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(89): Show |
a0000 | a0000c0002a0000c0009 | a0000c0002t0000a0000c0009t0000 | a0000c0002t0000g0000a0000c0009t0000g0000 | 92 | 472 | 0.1949 | 1 | c.904 others(4): Show |
p.Ile others(5): Show |
OR5K3 | ENSG00000206536.1 | transcript | ENST00000383695.1 | protein_coding | 1/1 | 905/966 | 905/966 | 302/321 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR5K4_chr3_98348854_98359819 | 98354747 | TA | T | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0002a0008 | a0002c0002a0008c0009 | a0002c0002t0000a0008c0009t0000 | a0002c0002t0000g0000a0008c0009t0000g0000 | 103 | 452 | 0.2279 | -1 | c.901 others(4): Show |
p.Ile others(5): Show |
OR5K4 | ENSG00000196098.2 | transcript | ENST00000354924.2 | protein_coding | 1/1 | 901/966 | 901/966 | 301/321 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR5M1_chr11_56604236_56619874 | 56613070 | CCAGA | C | frameshift_variant | HIGH | HG00140.hp1 HG00438.hp1 HG00642.hp2 others(62): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0002a0003c0003t0021a0003c0012t0002 | a0003c0003t0002g0002a0003c0003t0002g0011a0003c0003t0002g0013others(6): Show | 65 | 386 | 0.1684 | -4 | c.429 others(11): Show |
p.Cys others(5): Show |
OR5M1 | ENSG00000255012.3 | transcript | ENST00000641076.1 | protein_coding | 2/2 | 467/4302 | 429/948 | 143/315 | chr11 | TogoVar | ||
OR8K1_chr11_56341039_56351998 | 56346040 | T | C | start_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0000a0001c0002t0000a0001c0004t0000others(8): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0004t0000g0000others(8): Show | 351 | 437 | 0.8032 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR8K1 | ENSG00000150261.5 | transcript | ENST00000279783.5 | protein_coding | 1/1 | 2/960 | 2/960 | 1/319 | chr11 | TogoVar | ||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7598): Show |
stop_gained others(1): Show |
HIGH | HG00735.hp2 HG01074.hp2 HG01167.hp2 others(38): Show |
a0002 | a0002c0003 | a0002c0003t0000 | a0002c0003t0000g0000 | 41 | 364 | 0.1126 | 7605 | c.590 others(7612): Show |
p.Leu others(7618): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7598): Show |
stop_gained others(1): Show |
HIGH | HG01074.hp1 | a0009 | a0009c0062 | a0009c0062t0000 | a0009c0062t0000g0000 | 1 | 364 | 0.0028 | 7605 | c.492 others(7612): Show |
p.Phe others(7618): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 493/930 | 493/930 | 165/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OTOR_chr20_16743358_16757164 | 16748403 | T | C | start_lost | HIGH | HG00280.hp1 HG01074.hp2 HG01168.hp2 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0006 | a0003c0003t0005g0059a0003c0003t0005g0060a0003c0003t0005g0139others(5): Show | 13 | 486 | 0.0268 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OTOR | ENSG00000125879.5 | transcript | ENST00000246081.3 | protein_coding | 1/4 | 46/1477 | 2/387 | 1/128 | chr20 | TogoVar | ||
P2RX5_chr17_3668227_3701155 | 3690982 | TG | T | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(206): Show | 219 | 362 | 0.6050 | -1 | c.333 others(4): Show |
p.Asn others(5): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3/12 | 483/2060 | 333/1269 | 111/422 | chr17 | TogoVar | ||
PANK2_chr20_3884387_3934887 | 3889432 | T | A | start_lost | HIGH | HG00408.hp2 HG00735.hp2 HG01070.hp1 others(43): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0003t0004a0001c0003t0010others(11): Show | a0001c0003t0001g0034a0001c0003t0004g0001a0001c0003t0004g0002others(39): Show | 46 | 422 | 0.1090 | 0 | c.2T> others(1): Show |
p.Leu others(2): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1/7 | 46/8020 | 2/1383 | 1/460 | chr20 | TogoVar | ||
PATE4_chr11_125828316_125845072 | 125837866 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(21): Show | 196 | 424 | 0.4623 | 0 | c.59- others(4): Show |
PATE4 | ENSG00000237353.7 | transcript | ENST00000457514.3 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
PCDHB7_chr5_141167644_141181383 | 141174729 | G | T | stop_gained | HIGH | HG01074.hp1 HG01192.hp2 HG06807.hp1 others(1): Show |
a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0000 | 4 | 416 | 0.0096 | 0 | c.189 others(4): Show |
p.Glu others(4): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 2086/3740 | 1894/2382 | 632/793 | chr5 | TogoVar | ||
PEBP4_chr8_22708251_22932914 | 22713394 | GT | G | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(74): Show |
a0003a0004a0006others(5): Show | a0003c0003a0003c0011a0003c0013others(9): Show | a0003c0003t0003a0003c0003t0004a0003c0003t0010others(15): Show | a0003c0003t0003g0034a0003c0003t0003g0036a0003c0003t0003g0040others(74): Show | 77 | 278 | 0.2770 | -1 | c.659 others(4): Show |
p.Asn others(5): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 7/7 | 757/901 | 659/684 | 220/227 | chr8 | TogoVar | ||
PGPEP1L_chr15_98963229_99012792 | 98968575 | A | AC | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(166): Show |
a0000 | a0000c0002a0000c0005a0000c0010 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(16): Show | a0000c0002t0001g0001a0000c0002t0001g0003a0000c0002t0001g0004others(162): Show | 169 | 398 | 0.4246 | 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 | ||
PNPLA1_chr6_36265060_36318955 | 36306371 | T | A | stop_gained | HIGH | HG01074.hp1 HG01516.hp2 HG01517.hp1 |
a0014 | a0014c0019 | a0014c0019t0003 | a0014c0019t0003g0109a0014c0019t0003g0110a0014c0019t0003g0315 | 3 | 386 | 0.0078 | 0 | c.146 others(4): Show |
p.Tyr others(4): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 7/9 | 1864/4188 | 1464/1719 | 488/572 | chr6 | TogoVar | ||
POMZP3_chr7_76604986_76632279 | 76611468 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(209): Show |
a0000 | a0000c0002a0000c0004a0000c0005others(6): Show | a0000c0002t0002a0000c0002t0003a0000c0002t0004others(25): Show | a0000c0002t0002g0003a0000c0002t0002g0007a0000c0002t0002g0014others(183): Show | 212 | 423 | 0.5012 | -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 | ||
PRAMEF33_chr1_13298539_13313907 | 13307108 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
a0001a0003a0022others(2): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0034others(62): Show | 245 | 417 | 0.5875 | 0 | c.758 others(3): Show |
p.Trp others(4): Show |
PRAMEF33 | ENSG00000237700.2 | transcript | ENST00000437300.2 | protein_coding | 3/4 | 831/1518 | 758/1425 | 253/474 | chr1 | TogoVar | ||
PRR20A_chr13_57135918_57148939 | 57142529 | AC | A | frameshift_variant | HIGH | HG00609.hp1 HG00621.hp2 HG00673.hp2 others(30): Show |
a0002a0010 | a0002c0004a0002c0006a0002c0014others(2): Show | a0002c0004t0004a0002c0004t0015a0002c0004t0016others(9): Show | a0002c0004t0004g0003a0002c0004t0004g0033a0002c0004t0015g0003others(10): Show | 33 | 330 | 0.1000 | -1 | c.209 others(4): Show |
p.Pro others(4): Show |
PRR20A | ENSG00000204919.1 | transcript | ENST00000377931.1 | protein_coding | 3/3 | 442/1847 | 209/666 | 70/221 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0005others(4): Show | a0000c0001t0002a0000c0001t0004a0000c0001t0005others(6): Show | a0000c0001t0002g0001a0000c0001t0002g0008a0000c0001t0002g0010others(100): Show | 325 | 428 | 0.7594 | 0 | c.985 others(3): Show |
p.Ter others(11): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 5/5 | 997/1408 | 985/987 | 329/328 | chr4 | TogoVar | ||
PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(373): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(319): Show | 376 | 416 | 0.9039 | 0 | c.292 others(3): Show |
p.Arg others(3): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/6 | 423/2067 | 292/1260 | 98/419 | chr19 | TogoVar | ||
PTPRQ_chr12_80439235_80685273 | 80484408 | T | TTTTC | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG01074.hp2 HG01192.hp2 others(31): Show |
a0003a0005a0009others(14): Show | a0003c0003a0003c0079a0005c0004others(16): Show | a0003c0003t0001a0003c0003t0002a0003c0079t0001others(20): Show | a0003c0003t0001g0105a0003c0003t0001g0107a0003c0003t0002g0104others(31): Show | 34 | 178 | 0.1910 | 4 | c.118 others(17): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 8/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RECQL5_chr17_75621854_75672154 | 75630838 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(144): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(111): Show | 147 | 378 | 0.3889 | 2 | c.158 others(15): Show |
RECQL5 | ENSG00000108469.15 | transcript | ENST00000317905.10 | protein_coding | 11/19 | chr17 | TogoVar | ||||||
RETNLB_chr3_108750638_108762410 | 108757146 | G | GGGGGATT others(1): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(16): Show |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0007a0004c0004t0004g0021 | 19 | 452 | 0.0420 | 8 | c.32_ others(13): Show |
p.Leu others(4): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 1/3 | 264/701 | 39/336 | 13/111 | chr3 | TogoVar | ||
RFPL1_chr22_29433583_29447455 | 29441895 | C | T | stop_gained | HIGH | HG00642.hp2 HG01074.hp1 HG01192.hp2 others(32): Show |
a0003a0005a0011 | a0003c0003a0005c0009a0011c0012 | a0003c0003t0003a0005c0009t0003a0011c0012t0003 | a0003c0003t0003g0005a0003c0003t0003g0008a0003c0003t0003g0014others(4): Show | 35 | 444 | 0.0788 | 0 | c.727 others(3): Show |
p.Gln others(4): Show |
RFPL1 | ENSG00000128250.5 | transcript | ENST00000354373.2 | protein_coding | 2/2 | 936/1496 | 727/954 | 243/317 | chr22 | TogoVar | ||
RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0008a0003c0004others(16): Show | a0002c0002t0001a0002c0008t0001a0003c0004t0001others(16): Show | a0002c0002t0001g0003a0002c0002t0001g0011a0002c0002t0001g0014others(130): Show | 232 | 438 | 0.5297 | 1 | c.127 others(5): Show |
p.Asp others(5): Show |
RHBG | ENSG00000132677.13 | transcript | ENST00000537040.6 | protein_coding | 9/10 | 1311/1790 | 1272/1377 | 424/458 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
RTEL1_chr20_63653312_63701245 | 63690130 | CGTCCCCA others(3): Show |
C | frameshift_variant | HIGH | HG01074.hp2 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0017 | 1 | 60 | 0.0167 | -10 | c.218 others(19): Show |
p.Arg others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 25/35 | 2511/4615 | 2186/3903 | 729/1300 | chr20 | TogoVar | ||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp1 HG00673.hp2 others(50): Show |
a0001a0002a0008 | a0001c0013a0002c0003a0008c0007 | a0001c0013t0002a0002c0003t0003a0008c0007t0003 | a0001c0013t0002g0012a0002c0003t0003g0021a0002c0003t0003g0022others(50): Show | 53 | 386 | 0.1373 | 1 | c.100 others(7): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SBK2_chr19_55523611_55542133 | 55530084 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(32): Show |
a0000 | a0000c0003a0000c0007a0000c0017others(1): Show | a0000c0003t0001a0000c0003t0002a0000c0003t0003others(14): Show | a0000c0003t0001g0172a0000c0003t0001g0173a0000c0003t0001g0196others(32): Show | 35 | 434 | 0.0807 | 1 | c.695 others(4): Show |
p.Pro others(5): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 4/4 | 777/2251 | 695/1047 | 232/348 | chr19 | TogoVar | ||
SCAPER_chr15_76342904_76910340 | 76883817 | T | C | start_lost | HIGH | HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0022a0003c0003others(5): Show | a0002c0002t0002a0002c0022t0002a0003c0003t0002others(9): Show | a0002c0002t0002g0190a0002c0002t0002g0194a0002c0002t0002g0219others(114): Show | 117 | 312 | 0.3750 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 2/32 | 102/5033 | 1/4203 | 1/1400 | chr15 | TogoVar | ||
SERPINB11_chr18_63697960_63728893 | 63712604 | G | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001a0004a0013 | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0005others(18): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0014others(79): Show | 204 | 422 | 0.4834 | 0 | c.268 others(3): Show |
p.Glu others(3): Show |
SERPINB11 | ENSG00000206072.13 | transcript | ENST00000544088.6 | protein_coding | 4/8 | 330/1735 | 268/1179 | 90/392 | chr18 | TogoVar | ||
SIGLEC12_chr19_51486227_51506800 | 51501649 | G | A | stop_gained | HIGH | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(50): Show |
a0003 | a0003c0006a0003c0007a0003c0009others(12): Show | a0003c0006t0001a0003c0006t0004a0003c0007t0002others(15): Show | a0003c0006t0001g0153a0003c0006t0001g0156a0003c0006t0001g0157others(29): Show | 53 | 432 | 0.1227 | 0 | c.85C others(2): Show |
p.Gln others(3): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 152/2269 | 85/1788 | 29/595 | chr19 | TogoVar |