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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(50): Show | 172 | 474 | 0.3629 | 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 | |
OR6C75_chr12_55357975_55374279 | 55365407 | AT | A | frameshift_variant | HIGH | HG00558.hp2 HG00597.hp1 HG02015.hp2 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0010a0002c0002t0003g0034 | 16 | 454 | 0.0352 | -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 | |
OR7G3_chr19_9121012_9131950 | 9126022 | G | GATGGT | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show |
a0000a0002a0003others(1): Show | a0000c0002a0000c0007a0000c0014others(3): Show | a0000c0002t0000a0000c0007t0000a0000c0014t0000others(3): Show | a0000c0002t0000g0000a0000c0007t0000g0000a0000c0014t0000g0000others(3): Show | 177 | 402 | 0.4403 | 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(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 | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(127): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0000a0001c0013t0000 | a0001c0001t0000g0000a0001c0013t0000g0000 | 130 | 364 | 0.3571 | 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 | |
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 | ||
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(208): Show | 280 | 446 | 0.6278 | 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 | a0001c0001t0001g0007a0001c0001t0001g0020a0001c0001t0001g0042others(14): Show | 37 | 432 | 0.0857 | 0 | c.472 others(5): Show |
PLA2G4D | ENSG00000159337.7 | transcript | ENST00000290472.4 | protein_coding | 6/19 | chr15 | TogoVar | ||||||
PLIN4_chr19_4497192_4523486 | 4510779 | C | CG | frameshift_variant | HIGH | HG01192.hp2 HG01891.hp1 HG02055.hp1 others(7): Show |
a0033a0046a0064others(6): Show | a0033c0034a0046c0165a0064c0121others(6): Show | a0033c0034t0002a0033c0034t0003a0046c0165t0001others(7): Show | a0033c0034t0002g0208a0033c0034t0003g0207a0046c0165t0001g0071others(7): Show | 10 | 412 | 0.0243 | 1 | c.318 others(5): Show |
p.Ala others(6): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 3299/6502 | 3180/4116 | 1060/1371 | chr19 | TogoVar | ||
PLK5_chr19_1519077_1541046 | 1534043 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0016a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(160): Show | 210 | 430 | 0.4884 | 0 | c.825 others(5): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 13/13 | chr19 | TogoVar | ||||||
POTEC_chr18_14502339_14548600 | 14513787 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00621.hp1 HG02735.hp1 HG03927.hp1 others(16): Show |
a0003a0012 | a0003c0004a0012c0014 | a0003c0004t0004a0003c0004t0050a0003c0004t0051others(1): Show | a0003c0004t0004g0002a0003c0004t0004g0003a0003c0004t0004g0020others(11): Show | 19 | 388 | 0.0490 | 0 | c.141 others(6): Show |
POTEC | ENSG00000183206.18 | transcript | ENST00000358970.10 | protein_coding | 9/10 | chr18 | TogoVar | ||||||
PRAM1_chr19_8485056_8507640 | 8502591 | T | C | start_lost | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0002a0003a0005others(36): Show | a0002c0002a0003c0003a0005c0005others(46): Show | a0002c0002t0002a0003c0003t0002a0005c0005t0002others(47): Show | a0002c0002t0002g0008a0002c0002t0002g0049a0002c0002t0002g0050others(99): Show | 128 | 422 | 0.3033 | 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 |
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 | ||
PRAMEF4_chr1_12874212_12891201 | 12879725 | C | CG | frameshift_variant | HIGH | HG00741.hp1 HG01070.hp1 HG01070.hp2 others(14): Show |
a0005a0011 | a0005c0005a0011c0012 | a0005c0005t0003a0005c0005t0012a0011c0012t0003 | a0005c0005t0003g0019a0005c0005t0003g0020a0005c0005t0003g0032others(7): Show | 17 | 324 | 0.0525 | 1 | c.125 others(5): Show |
p.Arg others(5): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 4/4 | 1326/1840 | 1255/1437 | 419/478 | chr1 | TogoVar | ||
PRB3_chr12_11260914_11274707 | 11267400 | A | AG | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show |
a0003a0005a0007others(9): Show | a0003c0003a0005c0005a0007c0006others(9): Show | a0003c0003t0002a0005c0005t0002a0007c0006t0002others(9): Show | a0003c0003t0002g0004a0003c0003t0002g0023a0003c0003t0002g0033others(14): Show | 80 | 443 | 0.1806 | 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 | ||
PRSS48_chr4_151272161_151296862 | 151279866 | G | GCAGGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(87): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0002a0002c0004t0001g0012a0002c0004t0001g0013others(21): Show | 90 | 428 | 0.2103 | 5 | c.127 others(12): Show |
p.Ser others(4): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 2/5 | 144/1408 | 132/987 | 44/328 | INFO_REALIGN_3_PRIME | chr4 | 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 | ||
RNF17_chr13_24759169_24884921 | 24850445 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00673.hp2 HG01943.hp1 HG01993.hp2 others(32): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0001a0005c0005t0001g0026a0005c0005t0001g0095others(31): Show | 35 | 426 | 0.0822 | 0 | c.320 others(6): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 23/35 | chr13 | TogoVar | ||||||
RP1_chr8_54611096_54635834 | 54627923 | C | CAAAGAAA others(345): Show |
frameshift_variant others(1): Show |
HIGH | NA18993.hp1 | a0015 | a0015c0018 | a0015c0018t0001 | a0015c0018t0001g0010 | 1 | 430 | 0.0023 | 352 | c.405 others(361): Show |
p.Tyr others(6): Show |
RP1 | ENSG00000104237.11 | transcript | ENST00000220676.2 | protein_coding | 4/4 | 4172/7071 | 4053/6471 | 1351/2156 | INFO_REALIGN_3_PRIME | chr8 | 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 | ||
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 | a0003c0003t0003g0005a0003c0003t0003g0007a0003c0003t0003g0023others(62): Show | 93 | 434 | 0.2143 | -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 |
a0003a0004a0009others(8): Show | a0003c0003a0003c0007a0003c0008others(24): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(28): Show | a0003c0003t0003g0005a0003c0003t0003g0007a0003c0003t0003g0023others(69): Show | 102 | 434 | 0.2350 | -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(85): Show |
a0000 | a0000c0002a0000c0004a0000c0008 | a0000c0002t0002a0000c0002t0004a0000c0002t0012others(2): Show | a0000c0002t0002g0002a0000c0002t0002g0009a0000c0002t0002g0010others(47): Show | 88 | 364 | 0.2418 | -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 | |
SIGLEC5_chr19_51605960_51635401 | 51629822 | CCCTGCCA others(5572): Show |
C | exon_loss_variant | HIGH | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(29): Show |
a0005 | a0005c0008a0005c0014a0005c0015others(4): Show | a0005c0008t0003a0005c0014t0003a0005c0014t0009others(8): Show | a0005c0008t0003g0020a0005c0008t0003g0021a0005c0008t0003g0065others(27): Show | 32 | 414 | 0.0773 | -5579 | c.-50 others(12): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 2/9 | chr19 | TogoVar | ||||||
SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0005g0001others(13): Show | 317 | 412 | 0.7694 | 0 | c.977 others(3): Show |
p.Trp others(4): Show |
SLC35G6 | ENSG00000259224.3 | transcript | ENST00000412468.4 | protein_coding | 2/2 | 1048/1583 | 977/1017 | 326/338 | chr17 | TogoVar | ||
SLC38A6_chr14_60976245_61057630 | 61043504 | G | A | splice_donor_variant others(1): Show |
HIGH | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 320 | 0.0031 | 0 | c.744 others(5): Show |
SLC38A6 | ENSG00000139974.17 | transcript | ENST00000267488.9 | protein_coding | 10/15 | chr14 | TogoVar | ||||||
SLC6A18_chr5_1220381_1251189 | 1240642 | C | G | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show |
a0001a0006a0007others(4): Show | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(22): Show | a0001c0002t0001g0004a0001c0002t0001g0018a0001c0002t0001g0019others(157): Show | 181 | 456 | 0.3969 | 0 | c.957 others(3): Show |
p.Tyr others(4): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 7/12 | 1054/2095 | 957/1887 | 319/628 | chr5 | TogoVar | ||
SLC7A13_chr8_86209063_86235381 | 86214405 | TCCGACAT others(1): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00544.hp1 HG01070.hp1 others(92): Show |
a0000 | a0000c0002a0000c0015a0000c0024 | a0000c0002t0002a0000c0015t0002a0000c0024t0002 | a0000c0002t0002g0002a0000c0002t0002g0008a0000c0002t0002g0012others(18): Show | 95 | 428 | 0.2220 | -8 | c.141 others(15): Show |
p.Ter others(5): Show |
SLC7A13 | ENSG00000164893.9 | transcript | ENST00000297524.8 | protein_coding | 4/4 | 1524/1867 | 1413/1413 | 471/470 | chr8 | TogoVar | ||
SLFNL1_chr1_41010597_41026725 | 41017902 | A | AC | frameshift_variant | HIGH | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(57): Show |
a0002a0005a0007others(3): Show | a0002c0002a0002c0022a0005c0007others(6): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0007a0002c0002t0001g0022a0002c0002t0001g0029others(24): Show | 60 | 430 | 0.1395 | 1 | c.689 others(4): Show |
p.Ser others(5): Show |
SLFNL1 | ENSG00000171790.16 | transcript | ENST00000302946.13 | protein_coding | 4/6 | 917/1961 | 689/1224 | 230/407 | chr1 | TogoVar | ||
SNRNP70_chr19_49080451_49113604 | 49107881 | AGCGAGAA others(4): Show |
A | frameshift_variant | HIGH | NA18993.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0097 | 1 | 366 | 0.0027 | -11 | c.754 others(18): Show |
p.Arg others(5): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 10/10 | 950/1671 | 754/1314 | 252/437 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
SPATA31C2_chr9_88124305_88143475 | 88135258 | ATTGGAGT others(3483): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG00099.hp2 HG01070.hp1 HG01123.hp2 others(8): Show |
a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0069a0005c0006t0003g0070a0005c0006t0003g0071others(5): Show | 11 | 446 | 0.0247 | -3490 | c.-30 others(13): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
SPATA45_chr1_212825141_212852649 | 212829026 | ACACAAAG others(11290): Show |
A | exon_loss_variant | HIGH | HG00738.hp1 HG00741.hp2 HG03492.hp1 others(8): Show |
a0000 | a0000c0000 | a0000c0000t0002 | a0000c0000t0002g0011a0000c0000t0002g0028a0000c0000t0002g0048others(1): Show | 11 | 402 | 0.0274 | -11297 | c.-38 others(14): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
SUN2_chr22_38729734_38760998 | 38749811 | C | CG | frameshift_variant | HIGH | HG01433.hp1 HG01928.hp1 HG03471.hp2 others(7): Show |
a0005a0009 | a0005c0006a0005c0010a0005c0011others(2): Show | a0005c0006t0001a0005c0006t0004a0005c0006t0011others(4): Show | a0005c0006t0001g0072a0005c0006t0001g0103a0005c0006t0004g0052others(7): Show | 10 | 350 | 0.0286 | 1 | c.568 others(4): Show |
p.Arg others(5): Show |
SUN2 | ENSG00000100242.16 | transcript | ENST00000689035.1 | protein_coding | 6/18 | 841/3960 | 568/2154 | 190/717 | chr22 | TogoVar | ||
TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0000 | a0000c0002a0000c0006a0000c0008others(19): Show | a0000c0002t0001a0000c0002t0003a0000c0002t0025others(28): Show | a0000c0002t0001g0001a0000c0002t0001g0037a0000c0002t0001g0040others(70): Show | 159 | 485 | 0.3278 | 0 | c.205 others(4): Show |
p.Ter others(11): Show |
TAP2 | ENSG00000204267.19 | transcript | ENST00000374897.4 | protein_coding | 12/12 | 2150/5643 | 2059/2061 | 687/686 | chr6 | TogoVar | ||
TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(270): Show | 274 | 310 | 0.8839 | 1 | c.108 others(7): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TEDC1_chr14_105486246_105504248 | 105497878 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(27): Show |
a0000 | a0000c0003a0000c0010a0000c0011others(4): Show | a0000c0003t0001a0000c0003t0003a0000c0003t0005others(8): Show | a0000c0003t0001g0002a0000c0003t0001g0006a0000c0003t0001g0009others(23): Show | 30 | 436 | 0.0688 | 1 | c.106 others(5): Show |
p.Gly others(5): Show |
TEDC1 | ENSG00000185347.19 | transcript | ENST00000392523.9 | protein_coding | 8/9 | 1195/1920 | 1065/1488 | 355/495 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
TEX26_chr13_30927656_30980500 | 30956872 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(88): Show | 102 | 414 | 0.2464 | 0 | c.313 others(5): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 3/6 | chr13 | TogoVar | ||||||
THSD7B_chr2_136760545_137682718 | 137272664 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02109.hp2 HG03225.hp2 NA18993.hp2 others(1): Show |
a0001a0004a0022 | a0001c0021a0004c0008a0004c0055others(1): Show | a0001c0021t0004a0004c0008t0001a0004c0055t0003others(1): Show | a0001c0021t0004g0071a0004c0008t0001g0040a0004c0055t0003g0076others(1): Show | 4 | 98 | 0.0408 | 0 | c.239 others(6): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 11/27 | chr2 | TogoVar | ||||||
TMEM59L_chr19_18607870_18626039 | 18616056 | GCCCAGGG others(39): Show |
G | frameshift_variant | HIGH | NA18993.hp1 | a0005 | a0005c0009 | a0005c0009t0006 | a0005c0009t0006g0103 | 1 | 408 | 0.0025 | -46 | c.492 others(53): Show |
p.Gln others(5): Show |
TMEM59L | ENSG00000105696.9 | transcript | ENST00000262817.8 | protein_coding | 4/8 | 581/1621 | 492/1029 | 164/342 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
TMPRSS11A_chr4_67904395_67968493 | 67963391 | C | T | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0015a0002c0018others(7): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0019others(13): Show | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0005others(79): Show | 100 | 394 | 0.2538 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
TMPRSS11A | ENSG00000187054.16 | transcript | ENST00000508048.6 | protein_coding | 1/10 | 103/3304 | 3/1257 | 1/418 | chr4 | TogoVar | ||
TMPRSS3_chr21_42366890_42401052 | 42383199 | C | CTA | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00621.hp2 others(99): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0007others(6): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(16): Show | a0001c0001t0001g0251a0002c0003t0001g0007a0002c0003t0001g0011others(80): Show | 102 | 472 | 0.2161 | 2 | c.617 others(13): Show |
TMPRSS3 | ENSG00000160183.17 | transcript | ENST00000644384.2 | protein_coding | 7/12 | chr21 | TogoVar | ||||||
TMPRSS4_chr11_118072078_118126890 | 118094815 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0092a0001c0001t0002g0190a0001c0001t0003g0009others(124): Show | 130 | 406 | 0.3202 | 0 | c.4-1 others(3): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
TMPRSS6_chr22_37060436_37114713 | 37069345 | CTGGGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0006a0001c0009others(21): Show | a0001c0005t0001a0001c0005t0002a0001c0006t0001others(22): Show | a0001c0005t0001g0082a0001c0005t0001g0120a0001c0005t0001g0121others(118): Show | 125 | 348 | 0.3592 | -5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | ||||||
TNK2_chr3_195858364_195913551 | 195868357 | C | CG | frameshift_variant | HIGH | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show |
a0002a0013a0016others(3): Show | a0002c0004a0002c0008a0002c0010others(20): Show | a0002c0004t0001a0002c0004t0002a0002c0008t0001others(24): Show | a0002c0004t0001g0131a0002c0004t0001g0256a0002c0004t0001g0279others(50): Show | 53 | 372 | 0.1425 | 1 | c.194 others(5): Show |
p.Pro others(5): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 13/16 | 2025/4070 | 1940/3168 | 647/1055 | chr3 | TogoVar | ||
TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(74): Show | 274 | 424 | 0.6462 | 0 | c.738 others(5): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
USP17L18_chr4_9243630_9255222 | 9248650 | C | G | stop_gained | HIGH | HG00140.hp2 HG00323.hp1 HG01952.hp2 others(3): Show |
a0012 | a0012c0016a0012c0030a0012c0085 | a0012c0016t0000a0012c0030t0000a0012c0085t0000 | a0012c0016t0000g0000a0012c0030t0000g0000a0012c0085t0000g0000 | 6 | 210 | 0.0286 | 0 | c.21C others(2): Show |
p.Tyr others(2): Show |
USP17L18 | ENSG00000250844.3 | transcript | ENST00000504209.1 | protein_coding | 1/1 | 21/1593 | 21/1593 | 7/530 | chr4 | TogoVar | ||
USP17L18_chr4_9243630_9255222 | 9248825 | G | T | stop_gained | HIGH | HG00408.hp2 HG00609.hp2 HG01070.hp2 others(5): Show |
a0009 | a0009c0013a0009c0029a0009c0082others(1): Show | a0009c0013t0000a0009c0029t0000a0009c0082t0000others(1): Show | a0009c0013t0000g0000a0009c0029t0000g0000a0009c0082t0000g0000others(1): Show | 8 | 210 | 0.0381 | 0 | c.196 others(3): Show |
p.Glu others(3): Show |
USP17L18 | ENSG00000250844.3 | transcript | ENST00000504209.1 | protein_coding | 1/1 | 196/1593 | 196/1593 | 66/530 | chr4 | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843874 | TG | T | frameshift_variant | HIGH | NA18993.hp2 | a0041 | a0041c0059 | a0041c0059t0001 | a0041c0059t0001g0001 | 1 | 341 | 0.0029 | -1 | c.481 others(4): Show |
p.Glu others(5): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 514/781 | 481/621 | 161/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
VSIG10L_chr19_51326541_51347139 | 51332638 | T | TG | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(448): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0003others(24): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0006others(40): Show | a0000c0001t0001g0004a0000c0001t0001g0012a0000c0001t0001g0014others(104): Show | 451 | 452 | 0.9978 | 1 | c.257 others(5): Show |
p.Gln others(5): Show |
VSIG10L | ENSG00000186806.6 | transcript | ENST00000335624.5 | protein_coding | 10/10 | 2591/3689 | 2576/2604 | 859/867 | chr19 | TogoVar |