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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR6Q1_chr11_58025953_58036906 | 58031636 | AC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00741.hp2 others(25): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 28 | 414 | 0.0676 | -1 | c.685 others(4): Show |
p.Leu others(5): Show |
OR6Q1 | ENSG00000279051.5 | transcript | ENST00000302622.4 | protein_coding | 1/1 | 685/954 | 685/954 | 229/317 | chr11 | 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 | |||
OR7G3_chr19_9121012_9131950 | 9126240 | AG | A | frameshift_variant | HIGH | HG00280.hp2 HG00738.hp1 HG01069.hp1 others(23): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 26 | 400 | 0.0650 | -1 | c.710 others(4): Show |
p.Ala others(5): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 710/939 | 710/939 | 237/312 | chr19 | TogoVar | |||
OR7G3_chr19_9121012_9131950 | 9126587 | G | A | stop_gained | HIGH | HG02109.hp1 HG02451.hp1 HG03130.hp1 others(2): Show |
a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0000 | 5 | 400 | 0.0125 | 0 | c.364 others(3): Show |
p.Arg others(4): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 364/939 | 364/939 | 122/312 | 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 | ||
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(7599): Show |
frameshift_variant others(1): Show |
HIGH | HG02622.hp2 HG02647.hp2 HG03098.hp2 others(2): Show |
a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0000 | 5 | 47 | 0.1064 | 7606 | c.590 others(7613): 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(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG03453.hp1 HG03579.hp2 |
a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0000 | 2 | 44 | 0.0455 | 7604 | c.590 others(7611): 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 | ||
OVCH2_chr11_7684437_7711477 | 7695672 | T | TAAGAATG others(308): Show |
stop_gained others(1): Show |
HIGH | HG03579.hp2 | a0026 | a0026c0037 | a0026c0037t0004 | a0026c0037t0004g0244 | 1 | 456 | 0.0022 | 315 | c.117 others(324): Show |
p.Leu others(328): Show |
OVCH2 | ENSG00000183378.13 | transcript | ENST00000533663.6 | protein_coding | 11/16 | 1262/1978 | 1179/1698 | 393/565 | chr11 | TogoVar | |||
PALD1_chr10_70473767_70573450 | 70529208 | G | GC | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00609.hp1 others(47): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0051 others(47): Show |
50 | 88 | 0.5682 | 1 | c.186 others(6): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | 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 | |||||||
PCDHB2_chr5_141089615_141103703 | 141096905 | CTCGGTGC others(5846): Show |
C | frameshift_variant others(4): Show |
HIGH | HG03579.hp1 | a0014 | a0014c0012 | a0014c0012t0002 | a0014c0012t0002g0000 | 1 | 416 | 0.0024 | -5853 | c.211 others(10): Show |
p.Ser others(5): Show |
PCDHB2 | ENSG00000112852.7 | transcript | ENST00000194155.7 | protein_coding | 1/1 | 2292/4089 | 2116/2397 | 706/798 | chr5 | TogoVar | |||
PCDHB3_chr5_141095473_141108827 | 141096905 | CTCGGTGC others(5846): Show |
C | start_lost others(1): Show |
HIGH | HG03579.hp1 | a0003 | a0003c0006 | a0003c0006t0012 | a0003c0006t0012g0000 | 1 | 422 | 0.0024 | -5853 | c.-37 others(10): Show |
p.Met others(11): Show |
PCDHB3 | ENSG00000113205.5 | transcript | ENST00000231130.3 | protein_coding | 1/1 | 1/2391 | 1/796 | chr5 | TogoVar | ||||
PCDHB9_chr5_141182161_141196541 | 141187592 | C | T | stop_gained | HIGH | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 456 | 0.0022 | 0 | c.274 others(3): Show |
p.Arg others(3): Show |
PCDHB9 | ENSG00000177839.7 | transcript | ENST00000316105.7 | protein_coding | 1/1 | 432/4381 | 274/2394 | 92/797 | chr5 | TogoVar | |||
PEBP4_chr8_22708251_22932914 | 22713394 | GT | G | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(74): Show |
a0003a0004a0009others(3): Show | a0003c0004a0003c0007a0003c0008others(9): Show | a0003c0004t0003a0003c0004t0004a0003c0007t0003others(15): Show | a0003c0004t0003g0050 a0003c0004t0003g0052 a0003c0004t0003g0053 others(74): Show |
77 | 276 | 0.2790 | -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 | |||
PIH1D2_chr11_112062798_112079017 | 112073978 | A | C | splice_donor_variant others(1): Show |
HIGH | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 382 | 0.0026 | 0 | c.-32 others(5): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 1/5 | chr11 | 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 | |||
PLA2G2C_chr1_20158055_20191518 | 20175089 | G | A | stop_gained | HIGH | HG00323.hp1 HG00609.hp2 HG00621.hp2 others(81): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0001a0003c0003t0002a0003c0006t0001 | a0003c0003t0001g0002 a0003c0003t0001g0016 a0003c0003t0001g0025 others(57): Show |
84 | 406 | 0.2069 | 0 | c.97C others(2): Show |
p.Arg others(3): Show |
PLA2G2C | ENSG00000187980.7 | transcript | ENST00000679259.1 | protein_coding | 3/5 | 332/1621 | 97/450 | 33/149 | chr1 | TogoVar | |||
PLA2R1_chr2_159927006_160067615 | 159987235 | GC | G | frameshift_variant | HIGH | HG00639.hp1 HG01261.hp1 HG02280.hp2 others(8): Show |
a0004 | a0004c0005a0004c0032 | a0004c0005t0021a0004c0005t0031a0004c0005t0051others(6): Show | a0004c0005t0021g0005 a0004c0005t0031g0022 a0004c0005t0031g0030 others(7): Show |
11 | 324 | 0.0340 | -1 | c.195 others(5): Show |
p.Ala others(5): Show |
PLA2R1 | ENSG00000153246.13 | transcript | ENST00000283243.13 | protein_coding | 12/30 | 2169/14376 | 1957/4392 | 653/1463 | chr2 | 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 | ||||||
PLET1_chr11_112243153_112265860 | 112255588 | T | TA | frameshift_variant others(1): Show |
HIGH | HG01243.hp2 HG02451.hp1 HG02615.hp1 others(4): Show |
a0003 | a0003c0004a0003c0010 | a0003c0004t0001a0003c0010t0001 | a0003c0004t0001g0024 a0003c0004t0001g0038 a0003c0004t0001g0133 others(1): Show |
7 | 366 | 0.0191 | 1 | c.185 others(4): Show |
p.Phe others(4): Show |
PLET1 | ENSG00000188771.5 | transcript | ENST00000338832.4 | protein_coding | 2/4 | 456/1541 | 185/624 | 62/207 | chr11 | 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 | |||||||
POMK_chr8_43088515_43128434 | 43097519 | TAAAG | T | splice_acceptor_variant others(2): Show |
HIGH | HG01192.hp1 HG01884.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0002 | a0001c0001t0002g0015 a0001c0001t0002g0066 a0001c0001t0002g0067 others(3): Show |
8 | 274 | 0.0292 | -4 | c.-20 others(15): Show |
POMK | ENSG00000185900.11 | transcript | ENST00000331373.10 | protein_coding | 2/5 | 6023 | INFO_REALIGN_3_PRIME | chr8 | 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 | |||
PP2D1_chr3_19980346_20017264 | 19986183 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp2 HG02572.hp2 HG02622.hp1 others(8): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0002a0005c0006t0002 | a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 others(2): Show |
11 | 394 | 0.0279 | 0 | c.109 others(6): Show |
PP2D1 | ENSG00000183977.14 | transcript | ENST00000389050.5 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
PRAM1_chr19_8485056_8507640 | 8499602 | A | T | stop_gained | HIGH | HG03579.hp1 | a0044 | a0044c0089 | a0044c0089t0002 | a0044c0089t0002g0251 | 1 | 415 | 0.0024 | 0 | c.206 others(3): Show |
p.Leu others(3): Show |
PRAM1 | ENSG00000133246.12 | transcript | ENST00000423345.5 | protein_coding | 2/10 | 255/2195 | 206/2013 | 69/670 | chr19 | 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 | |||
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 | 11268099 | GGTACGTT others(53): Show |
G | frameshift_variant others(3): Show |
HIGH | HG01891.hp2 HG02809.hp1 HG03579.hp1 |
a0015 | a0015c0013 | a0015c0013t0002 | a0015c0013t0002g0021 | 3 | 442 | 0.0068 | -60 | c.101 others(70): Show |
p.Gly others(4): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 187/1227 | 101/1056 | 34/351 | chr12 | TogoVar | |||
PRDM7_chr16_90051566_90082331 | 90064602 | CGGGGTTT others(6131): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00099.hp2 HG02145.hp2 HG02280.hp2 others(6): Show |
a0006 | a0006c0006a0006c0010 | a0006c0006t0003a0006c0006t0011a0006c0006t0022others(1): Show | a0006c0006t0003g0082 a0006c0006t0003g0084 a0006c0006t0003g0130 others(5): Show |
9 | 390 | 0.0231 | -6138 | c.302 others(16): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
PRDM9_chr5_23502609_23533093 | 23527575 | G | GAAGCCCT others(72): Show |
frameshift_variant | HIGH | HG03579.hp1 | a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0034 | 1 | 412 | 0.0024 | 79 | c.252 others(88): Show |
p.Asn others(5): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2712/3193 | 2524/2685 | 842/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PRM3_chr16_11268199_11278629 | 11273286 | A | G | stop_lost | HIGH | HG01496.hp1 HG02280.hp1 HG02451.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003a0002c0002t0006 | a0001c0001t0003g0000 a0002c0002t0003g0000 a0002c0002t0006g0000 |
12 | 412 | 0.0291 | 0 | c.310 others(3): Show |
p.Ter others(11): Show |
PRM3 | ENSG00000178257.4 | transcript | ENST00000327157.4 | protein_coding | 1/1 | 344/431 | 310/312 | 104/103 | chr16 | TogoVar | |||
PRMT9_chr4_147632785_147689163 | 147660917 | G | A | stop_gained | HIGH | HG03579.hp1 | a0008 | a0008c0015 | a0008c0015t0010 | a0008c0015t0010g0187 | 1 | 220 | 0.0045 | 0 | c.107 others(4): Show |
p.Arg others(4): Show |
PRMT9 | ENSG00000164169.13 | transcript | ENST00000322396.7 | protein_coding | 7/12 | 1251/3461 | 1075/2538 | 359/845 | chr4 | 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 | |||
PSG4_chr19_43187702_43210638 | 43204252 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp1 HG00597.hp2 others(39): Show |
a0002a0015a0020 | a0002c0002a0002c0037a0015c0020others(1): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0017others(4): Show | a0002c0002t0003g0002 a0002c0002t0003g0020 a0002c0002t0003g0160 others(22): Show |
42 | 298 | 0.1409 | 0 | c.65- others(4): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(372): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
375 | 414 | 0.9058 | 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 | |||
PSG8_chr19_42749233_42770678 | 42763988 | AG | A | frameshift_variant | HIGH | HG00280.hp1 HG00609.hp2 HG00738.hp2 others(33): Show |
a0003a0009a0011others(3): Show | a0003c0003a0003c0005a0003c0013others(6): Show | a0003c0003t0001a0003c0005t0001a0003c0013t0001others(6): Show | a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0157 others(17): Show |
36 | 436 | 0.0826 | -1 | c.357 others(4): Show |
p.Tyr others(5): Show |
PSG8 | ENSG00000124467.20 | transcript | ENST00000306511.5 | protein_coding | 2/5 | 454/1440 | 357/1281 | 119/426 | chr19 | 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 | ||
PTPN23_chr3_47376021_47418435 | 47411089 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show |
a0002a0004a0005others(6): Show | a0002c0004a0002c0008a0002c0009others(17): Show | a0002c0004t0001a0002c0008t0001a0002c0008t0003others(18): Show | a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 others(118): Show |
135 | 330 | 0.4091 | 1 | c.329 others(5): Show |
p.Arg others(6): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 3373/5237 | 3297/4911 | 1099/1636 | INFO_REALIGN_3_PRIME | chr3 | 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 | |||||||
RAMACL_chr6_166578009_166591678 | 166585488 | TCAAACAA others(1183): Show |
T | frameshift_variant others(1): Show |
HIGH | HG01070.hp1 HG01071.hp1 HG01167.hp1 others(40): Show |
a0002 | a0002c0000 | a0002c0000t0004a0002c0000t0006a0002c0000t0008others(3): Show | a0002c0000t0004g0000 a0002c0000t0006g0000 a0002c0000t0008g0000 others(3): Show |
43 | 440 | 0.0977 | -1190 | c.-20 others(9): Show |
p.Met others(3): Show |
RAMACL | ENSG00000235272.3 | transcript | ENST00000444122.3 | protein_coding | 1/1 | 1190/3670 | 1/357 | 1/118 | chr6 | TogoVar | |||
RAPH1_chr2_203428682_203540301 | 203441288 | T | TG | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(33): Show |
a0002a0006 | a0002c0005a0002c0006a0002c0012others(8): Show | a0002c0005t0002a0002c0005t0003a0002c0005t0011others(28): Show | a0002c0005t0002g0149 a0002c0005t0002g0174 a0002c0005t0003g0135 others(33): Show |
36 | 288 | 0.1250 | 1 | c.190 others(5): Show |
p.Pro others(5): Show |
RAPH1 | ENSG00000173166.18 | transcript | ENST00000319170.10 | protein_coding | 14/14 | 2092/9699 | 1901/3753 | 634/1250 | chr2 | TogoVar | |||
RECQL5_chr17_75621854_75672154 | 75630838 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(143): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(111): Show |
146 | 375 | 0.3893 | 2 | c.158 others(15): Show |
RECQL5 | ENSG00000108469.15 | transcript | ENST00000317905.10 | protein_coding | 11/19 | chr17 | TogoVar | |||||||
RGPD4_chr2_107821892_107897544 | 107838282 | C | T | stop_gained | HIGH | HG01081.hp2 HG01167.hp2 HG02257.hp2 others(17): Show |
a0006a0019 | a0006c0007a0006c0008a0006c0076others(3): Show | a0006c0007t0005a0006c0007t0018a0006c0008t0005others(5): Show | a0006c0007t0005g0193 a0006c0007t0005g0194 a0006c0007t0005g0195 others(17): Show |
20 | 372 | 0.0538 | 0 | c.166 others(3): Show |
p.Arg others(3): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 3/23 | 288/7212 | 166/5277 | 56/1758 | chr2 | 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 | TAA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0012a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(95): Show |
101 | 227 | 0.4449 | 2 | c.100 others(15): 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 |
a0003 | a0003c0003a0003c0007a0003c0017others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(12): Show | a0003c0003t0001g0037 a0003c0003t0001g0042 a0003c0003t0001g0064 others(29): Show |
35 | 432 | 0.0810 | 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 | |||
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 |