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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
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 |
a0003 | a0003c0003a0003c0007a0003c0009 | a0003c0003t0001a0003c0007t0001a0003c0009t0001 | a0003c0003t0001g0000 a0003c0007t0001g0000 a0003c0009t0001g0000 |
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 | 248362026 | C | CTA | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(133): Show |
a0003a0004a0005 | a0003c0003a0003c0007a0003c0009others(2): Show | a0003c0003t0001a0003c0007t0001a0003c0009t0001others(2): Show | a0003c0003t0001g0000 a0003c0007t0001g0000 a0003c0009t0001g0000 others(2): Show |
136 | 428 | 0.3178 | 2 | c.362 others(9): Show |
p.Met others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 363/963 | 363/963 | 121/320 | chr1 | 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 | ||
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 | |||
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 | |||
OR5B17_chr11_58353124_58364069 | 58359006 | G | A | stop_gained | HIGH | HG00423.hp2 HG02074.hp2 HG02132.hp2 others(11): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 14 | 378 | 0.0370 | 0 | c.64C others(2): Show |
p.Gln others(3): Show |
OR5B17 | ENSG00000197786.3 | transcript | ENST00000357377.3 | protein_coding | 1/1 | 64/946 | 64/945 | 22/314 | chr11 | TogoVar | |||
OR5K3_chr3_98385666_98396631 | 98391562 | G | GA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(89): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0000 a0002c0009t0001g0000 |
92 | 470 | 0.1957 | 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 |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0001a0007c0009t0001 | a0002c0002t0001g0000 a0007c0009t0001g0000 |
103 | 450 | 0.2289 | -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 | ||
OR6C74_chr12_55239609_55261625 | 55247471 | C | T | stop_gained | HIGH | HG00099.hp1 HG00558.hp2 HG00597.hp1 others(71): Show |
a0002a0006 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0006a0002c0002t0009a0002c0002t0013others(14): Show | a0002c0002t0006g0004 a0002c0002t0009g0005 a0002c0002t0013g0007 others(14): Show |
74 | 338 | 0.2189 | 0 | c.184 others(3): Show |
p.Arg others(3): Show |
OR6C74 | ENSG00000197706.5 | transcript | ENST00000343399.5 | protein_coding | 2/2 | 402/9556 | 184/939 | 62/312 | chr12 | TogoVar | |||
OR6C75_chr12_55357975_55374279 | 55365407 | AT | A | frameshift_variant | HIGH | HG00558.hp2 HG00597.hp1 HG02015.hp2 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0010 a0002c0002t0003g0034 |
16 | 451 | 0.0355 | -1 | c.305 others(4): Show |
p.Phe others(5): Show |
OR6C75 | ENSG00000187857.5 | transcript | ENST00000641576.1 | protein_coding | 3/3 | 705/4569 | 305/939 | 102/312 | 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 | |||
OR8K1_chr11_56341039_56351998 | 56346040 | T | C | start_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(347): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0004t0001g0000 others(8): Show |
350 | 436 | 0.8028 | 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(7603): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00621.hp1 HG00642.hp1 others(24): Show |
a0004a0007 | a0004c0004a0004c0021a0007c0023 | a0004c0004t0001a0004c0021t0001a0007c0023t0001 | a0004c0004t0001g0000 a0004c0021t0001g0000 a0007c0023t0001g0000 |
27 | 69 | 0.3913 | 7610 | c.590 others(7617): Show |
p.Phe others(5): 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 | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(127): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0000 a0001c0013t0001g0000 |
130 | 172 | 0.7558 | 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 | ||
OXGR1_chr13_96980713_96999476 | 96987625 | GA | G | frameshift_variant | HIGH | HG00423.hp2 HG00609.hp2 HG02040.hp2 others(9): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0018 a0002c0004t0001g0043 a0002c0004t0001g0079 others(4): Show |
12 | 460 | 0.0261 | -1 | c.134 others(4): Show |
p.Leu others(4): Show |
OXGR1 | ENSG00000165621.9 | transcript | ENST00000541038.2 | protein_coding | 4/4 | 590/2503 | 134/1014 | 45/337 | chr13 | TogoVar | |||
P2RX5_chr17_3668227_3701155 | 3690982 | TG | T | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(196): Show |
218 | 360 | 0.6056 | -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 | |||
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 | |||||||
PATZ1_chr22_31320804_31351346 | 31345102 | A | AG | frameshift_variant | HIGH | HG01261.hp2 HG02080.hp1 HG02738.hp2 others(9): Show |
a0003a0004 | a0003c0004a0003c0005a0004c0008 | a0003c0004t0002a0003c0005t0003a0003c0005t0004others(3): Show | a0003c0004t0002g0021 a0003c0004t0002g0060 a0003c0004t0002g0061 others(7): Show |
12 | 384 | 0.0313 | 1 | c.500 others(4): Show |
p.Ala others(5): Show |
PATZ1 | ENSG00000100105.18 | transcript | ENST00000266269.10 | protein_coding | 1/5 | 1244/3895 | 500/2064 | 167/687 | chr22 | TogoVar | |||
PBOV1_chr6_138210986_138223491 | 138218046 | A | AG | frameshift_variant | HIGH | HG00140.hp2 HG00408.hp1 HG00558.hp2 others(86): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0002c0002t0005a0002c0002t0009others(3): Show | a0002c0002t0002g0000 a0002c0002t0005g0000 a0002c0002t0009g0000 others(3): Show |
89 | 382 | 0.2330 | 1 | c.349 others(4): Show |
p.Leu others(5): Show |
PBOV1 | ENSG00000254440.3 | transcript | ENST00000527246.3 | protein_coding | 1/1 | 445/2506 | 349/408 | 117/135 | chr6 | 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 | |||
PLA2G4D_chr15_42062009_42099562 | 42083780 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp2 HG00621.hp2 HG01192.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0042 others(14): Show |
37 | 430 | 0.0860 | 0 | c.472 others(5): Show |
PLA2G4D | ENSG00000159337.7 | transcript | ENST00000290472.4 | protein_coding | 6/19 | chr15 | 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 | ||||||
PLPPR3_chr19_807488_826955 | 813259 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00597.hp2 HG01099.hp1 others(16): Show |
a0004a0015a0016others(1): Show | a0004c0007a0004c0019a0004c0027others(5): Show | a0004c0007t0001a0004c0019t0001a0004c0027t0001others(5): Show | a0004c0007t0001g0013 a0004c0007t0001g0024 a0004c0007t0001g0060 others(10): Show |
19 | 396 | 0.0480 | 1 | c.146 others(5): Show |
p.Pro others(5): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 8/8 | 1534/2306 | 1467/2157 | 489/718 | 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 | |||
POLR1A_chr2_86015216_86110886 | 86077843 | ACACACAC others(8): Show |
A | splice_donor_variant others(2): Show |
HIGH | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0317 | 1 | 338 | 0.0030 | -15 | c.138 others(29): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 11/33 | chr2 | TogoVar | |||||||
POU3F2_chr6_98829574_98844458 | 98835104 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(44): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(7): Show | a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0004g0000 others(7): Show |
47 | 433 | 0.1085 | 1 | c.239 others(4): Show |
p.Gly others(4): Show |
POU3F2 | ENSG00000184486.10 | transcript | ENST00000328345.8 | protein_coding | 1/1 | 540/4885 | 240/1332 | 80/443 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
PRAM1_chr19_8485056_8507640 | 8502591 | T | C | start_lost | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0002a0003a0004others(23): Show | a0002c0002a0003c0003a0004c0005others(46): Show | a0002c0002t0002a0003c0003t0002a0004c0005t0002others(47): Show | a0002c0002t0002g0008 a0002c0002t0002g0053 a0002c0002t0002g0054 others(96): Show |
128 | 420 | 0.3048 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
PRAM1 | ENSG00000133246.12 | transcript | ENST00000423345.5 | protein_coding | 1/10 | 50/2195 | 1/2013 | 1/670 | chr19 | TogoVar | |||
PRAMEF2_chr1_12852086_12866909 | 12860036 | G | T | stop_gained | HIGH | HG00642.hp2 HG01515.hp2 HG02071.hp1 others(25): Show |
a0002a0017 | a0002c0002a0002c0022a0002c0023others(1): Show | a0002c0002t0003a0002c0022t0003a0002c0023t0008others(1): Show | a0002c0002t0003g0005 a0002c0002t0003g0021 a0002c0002t0003g0022 others(3): Show |
28 | 336 | 0.0833 | 0 | c.631 others(3): Show |
p.Glu others(4): Show |
PRAMEF2 | ENSG00000120952.4 | transcript | ENST00000240189.2 | protein_coding | 3/4 | 718/1642 | 631/1425 | 211/474 | chr1 | TogoVar | |||
PRAMEF33_chr1_13298539_13313907 | 13307108 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
a0001a0003a0023others(2): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(36): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0034 others(62): Show |
245 | 416 | 0.5889 | 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 | |||
PRB3_chr12_11260914_11274707 | 11267400 | A | AG | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show |
a0003a0005a0006others(5): Show | a0003c0003a0003c0028a0005c0005others(7): Show | a0003c0003t0002a0003c0028t0002a0005c0005t0002others(7): Show | a0003c0003t0002g0004 a0003c0003t0002g0013 a0003c0003t0002g0022 others(12): Show |
80 | 442 | 0.1810 | 1 | c.848 others(4): Show |
p.His others(5): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 886/1227 | 848/1056 | 283/351 | chr12 | TogoVar | |||
PRR23D1_chr8_7534627_7547450 | 7541827 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(57): Show |
a0002a0006a0008others(2): Show | a0002c0001a0006c0007a0008c0011others(2): Show | a0002c0001t0003a0002c0001t0004a0002c0001t0006others(8): Show | a0002c0001t0003g0001 a0002c0001t0003g0012 a0002c0001t0004g0001 others(11): Show |
60 | 166 | 0.3614 | -1 | c.790 others(4): Show |
p.Val others(5): Show |
PRR23D1 | ENSG00000255251.2 | transcript | ENST00000533250.2 | protein_coding | 4/4 | 968/1588 | 790/840 | 264/279 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(98): Show |
324 | 426 | 0.7606 | 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 | |||
PSORS1C1_chr6_31109800_31145092 | 31138723 | T | TC | frameshift_variant | HIGH | HG00423.hp1 HG00733.hp2 HG00735.hp1 others(54): Show |
a0004a0006 | a0004c0005a0006c0006a0006c0013 | a0004c0005t0001a0004c0005t0003a0004c0005t0005others(4): Show | a0004c0005t0001g0088 a0004c0005t0001g0194 a0004c0005t0001g0204 others(25): Show |
57 | 414 | 0.1377 | 1 | c.118 others(4): Show |
p.His others(4): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 5/6 | 439/939 | 119/459 | 40/152 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
PVRIG_chr7_100214949_100226490 | 100221192 | A | ACT | frameshift_variant | HIGH | HG00323.hp1 HG01928.hp1 HG01943.hp2 others(13): Show |
a0003a0008 | a0003c0003a0008c0008 | a0003c0003t0002a0008c0008t0002 | a0003c0003t0002g0002 a0008c0008t0002g0002 |
16 | 392 | 0.0408 | 2 | c.865 others(9): Show |
p.Pro others(5): Show |
PVRIG | ENSG00000213413.3 | transcript | ENST00000699088.1 | protein_coding | 5/5 | 889/1182 | 867/921 | 289/306 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
PYGL_chr14_50900217_50949483 | 50911872 | CT | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 others(187): Show |
253 | 388 | 0.6521 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | |||||||
RETSAT_chr2_85336955_85359528 | 85350038 | AC | A | splice_donor_variant others(1): Show |
HIGH | HG00673.hp1 HG02129.hp1 NA18940.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0102 a0001c0001t0002g0011 a0001c0001t0002g0101 |
11 | 382 | 0.0288 | -1 | c.799 others(6): Show |
RETSAT | ENSG00000042445.14 | transcript | ENST00000295802.9 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0008a0002c0019others(16): Show | a0002c0002t0001a0002c0008t0001a0002c0019t0001others(16): Show | a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 others(130): Show |
231 | 436 | 0.5298 | 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 | ||
RNF32_chr7_156635774_156682130 | 156675865 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00438.hp2 HG00609.hp2 HG01168.hp2 others(52): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0005others(1): Show | a0002c0002t0001a0003c0003t0002a0003c0003t0004others(3): Show | a0002c0002t0001g0076 a0003c0003t0002g0052 a0003c0003t0002g0189 others(41): Show |
55 | 446 | 0.1233 | 0 | c.852 others(5): Show |
RNF32 | ENSG00000105982.17 | transcript | ENST00000317955.10 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
RPL28_chr19_55380932_55397085 | 55388029 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00621.hp1 others(52): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0002g0001 others(17): Show |
55 | 309 | 0.1780 | 1 | c.307 others(4): Show |
p.Arg others(5): Show |
RPL28 | ENSG00000108107.15 | transcript | ENST00000344063.7 | protein_coding | 4/5 | 350/4209 | 308/414 | 103/137 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(101): Show |
a0001a0005a0007 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(100): Show |
104 | 230 | 0.4522 | 3 | c.100 others(16): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 930081 | A | AGCCCCAC others(14): Show |
splice_acceptor_variant others(1): Show |
HIGH | NA18945.hp1 NA18960.hp1 NA18998.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0346 |
3 | 431 | 0.0070 | 21 | c.610 others(33): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76883817 | T | C | start_lost | HIGH | HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show |
a0002a0011 | a0002c0002a0002c0003a0002c0011others(5): Show | a0002c0002t0002a0002c0003t0002a0002c0003t0005others(9): Show | a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show |
117 | 310 | 0.3774 | 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 | |||
SCART1_chr10_133448945_133474760 | 133457333 | TC | T | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(90): Show |
a0003a0004 | a0003c0003a0003c0007a0003c0008others(16): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(20): Show | a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(61): Show |
93 | 432 | 0.2153 | -1 | c.444 others(4): Show |
p.Glu others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 3/12 | 497/4929 | 444/3084 | 148/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
SCART1_chr10_133448945_133474760 | 133464740 | CTGGGGTG | C | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show |
a0003a0004a0007others(7): Show | a0003c0003a0003c0007a0003c0008others(24): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(28): Show | a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(68): Show |
102 | 431 | 0.2367 | -7 | c.211 others(16): Show |
p.Val others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 7/12 | 2170/4929 | 2117/3084 | 706/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
SCRN3_chr2_174390730_174434575 | 174427852 | TTCAAATT others(6): Show |
T | frameshift_variant | HIGH | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(84): Show |
a0002a0009 | a0002c0002a0002c0004a0009c0008 | a0002c0002t0002a0002c0002t0004a0002c0002t0012others(2): Show | a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0011 others(47): Show |
87 | 362 | 0.2403 | -13 | c.125 others(22): Show |
p.Asn others(5): Show |
SCRN3 | ENSG00000144306.15 | transcript | ENST00000272732.11 | protein_coding | 8/8 | 1348/3052 | 1251/1275 | 417/424 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |