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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR51I1_chr11_5435570_5446514 | 5441472 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(81): Show |
a0003 | a0003c0003a0003c0007a0003c0018 | a0003c0003t0001a0003c0007t0001a0003c0018t0001 | a0003c0003t0001g0000 a0003c0007t0001g0000 a0003c0018t0001g0000 |
84 | 470 | 0.1787 | 0 | c.43C others(2): Show |
p.Gln others(3): Show |
OR51I1 | ENSG00000167359.8 | transcript | ENST00000380211.1 | protein_coding | 1/1 | 43/945 | 43/945 | 15/314 | chr11 | TogoVar | |||
OR51Q1_chr11_5417111_5428206 | 5422906 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(211): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0007 | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(1): Show | a0002c0002t0001g0000 a0002c0002t0003g0000 a0003c0003t0001g0000 others(1): Show |
214 | 452 | 0.4735 | 0 | c.706 others(3): Show |
p.Arg others(4): Show |
OR51Q1 | ENSG00000167360.6 | transcript | ENST00000300778.4 | protein_coding | 1/1 | 796/1096 | 706/954 | 236/317 | chr11 | TogoVar | |||
OR52B4_chr11_4362263_4373386 | 4368174 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(170): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0000 a0002c0002t0004g0000 |
173 | 464 | 0.3728 | -1 | c.121 others(4): Show |
p.Leu others(4): Show |
OR52B4 | ENSG00000221996.6 | transcript | ENST00000624801.3 | protein_coding | 1/1 | 212/1124 | 121/945 | 41/314 | chr11 | TogoVar | |||
OR52N4_chr11_5749243_5760958 | 5755254 | A | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(63): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0006 | a0003c0003t0001g0001 a0003c0003t0006g0001 |
66 | 470 | 0.1404 | 0 | c.514 others(3): Show |
p.Arg others(4): Show |
OR52N4 | ENSG00000181074.5 | transcript | ENST00000641350.2 | protein_coding | 2/2 | 625/1329 | 514/966 | 172/321 | chr11 | TogoVar | |||
OR56B2P_chr11_5756153_5774080 | 5763343 | CACTCTTG others(10730): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(56): Show |
a0002 | a0002c0000 | a0002c0000t0003 | a0002c0000t0003g0003 a0002c0000t0003g0019 |
59 | 432 | 0.1366 | -10737 | c.2-1 others(12): Show |
OR56B2P | ENSG00000181017.7 | transcript | ENST00000641377.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0005t0001g0000 others(2): Show |
303 | 430 | 0.7047 | 0 | c.55C others(2): Show |
p.Gln others(3): Show |
OR5AR1 | ENSG00000172459.5 | transcript | ENST00000624596.2 | protein_coding | 1/1 | 55/933 | 55/933 | 19/310 | chr11 | TogoVar | |||
OR6C1_chr12_55309343_55327364 | 55320622 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
a0002 | a0002c0002a0002c0005a0002c0007others(2): Show | a0002c0002t0001a0002c0005t0002a0002c0005t0004others(3): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(44): Show |
172 | 472 | 0.3644 | 1 | c.24d others(3): Show |
p.Glu others(3): Show |
OR6C1 | ENSG00000205330.4 | transcript | ENST00000642104.1 | protein_coding | 2/2 | 315/2055 | 25/939 | 9/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
OR8H2_chr11_56098687_56112658 | 56104871 | G | A | splice_acceptor_variant others(1): Show |
HIGH | NA18960.hp1 NA18978.hp1 NA19005.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 8 | 450 | 0.0178 | 0 | c.-17 others(6): Show |
OR8H2 | ENSG00000181767.3 | transcript | ENST00000313503.2 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
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(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 | ||
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 | |||||||
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 | |||
PGPEP1L_chr15_98963229_99012792 | 98968575 | A | AC | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(165): Show |
a0002 | a0002c0002a0002c0005a0002c0010 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(16): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0004 others(158): Show |
168 | 396 | 0.4242 | 1 | c.331 others(4): Show |
p.Val others(5): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 5/5 | 1134/1481 | 331/429 | 111/142 | chr15 | TogoVar | |||
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(185): Show |
279 | 442 | 0.6312 | 25 | c.271 others(32): Show |
p.Gln others(4): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 4/27 | 281/3427 | 271/3114 | 91/1037 | chr10 | TogoVar | |||
PKD1L3_chr16_71924538_72005402 | 71967237 | G | A | stop_gained | HIGH | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(84): Show |
a0001a0004a0017others(1): Show | a0001c0001a0001c0028a0001c0062others(14): Show | a0001c0001t0001a0001c0028t0001a0001c0062t0001others(16): Show | a0001c0001t0001g0050 a0001c0001t0001g0147 a0001c0001t0001g0157 others(84): Show |
87 | 306 | 0.2843 | 0 | c.236 others(4): Show |
p.Arg others(4): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 15/30 | 2789/5623 | 2365/5199 | 789/1732 | chr16 | 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 | ||||||
PMIS2_chr19_35581173_35592296 | 35586327 | CT | C | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(69): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0009 others(2): Show |
72 | 442 | 0.1629 | -1 | c.69d others(3): Show |
p.Thr others(4): Show |
PMIS2 | ENSG00000283758.2 | transcript | ENST00000640449.2 | protein_coding | 1/2 | 156/690 | 69/453 | 23/150 | chr19 | TogoVar | |||
POMZP3_chr7_76604986_76632279 | 76611468 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(208): Show |
a0002a0004a0005others(3): Show | a0002c0002a0002c0007a0002c0009others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(25): Show | a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 others(182): Show |
211 | 422 | 0.5000 | -1 | c.560 others(4): Show |
p.Leu others(5): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 6/7 | 1283/1528 | 560/564 | 187/187 | chr7 | TogoVar | |||
PPIG_chr2_169579351_169646406 | 169584491 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(85): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(11): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 others(80): Show |
88 | 380 | 0.2316 | 0 | c.-70 others(5): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | chr2 | 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 | |||
PRR23D2_chr8_7773591_7786413 | 7779210 | AC | A | frameshift_variant | HIGH | HG00438.hp2 HG00621.hp2 HG00673.hp2 others(19): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0007others(2): Show | a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0011 others(7): Show |
22 | 122 | 0.1803 | -1 | c.790 others(4): Show |
p.Val others(5): Show |
PRR23D2 | ENSG00000255378.1 | transcript | ENST00000528972.1 | protein_coding | 4/4 | 967/1587 | 790/840 | 264/279 | chr8 | 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 | |||
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 | ||
PTTG1IP2_chr7_90464639_90518397 | 90487326 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(69): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0217 others(56): Show |
72 | 382 | 0.1885 | 0 | c.193 others(5): Show |
PTTG1IP2 | ENSG00000251154.2 | transcript | ENST00000509356.2 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
RABL2A_chr2_113622266_113648392 | 113635063 | CG | C | frameshift_variant | HIGH | HG00438.hp1 HG00621.hp2 HG00735.hp2 others(38): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0010a0002c0002t0015others(2): Show | a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0025 others(17): Show |
41 | 434 | 0.0945 | -1 | c.232 others(4): Show |
p.Ala others(4): Show |
RABL2A | ENSG00000144134.19 | transcript | ENST00000683472.1 | protein_coding | 5/9 | 420/2141 | 232/690 | 78/229 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
RFPL1_chr22_29433583_29447455 | 29441895 | C | T | stop_gained | HIGH | HG00642.hp2 HG01074.hp1 HG01192.hp2 others(32): Show |
a0003a0006 | a0003c0003a0003c0012a0006c0009 | a0003c0003t0003a0003c0012t0003a0006c0009t0003 | a0003c0003t0003g0005 a0003c0003t0003g0008 a0003c0003t0003g0014 others(4): Show |
35 | 442 | 0.0792 | 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 | |||
RFX8_chr2_101392359_101480112 | 101422474 | T | G | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(42): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0109 others(36): Show |
45 | 350 | 0.1286 | 0 | c.73- others(4): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
RPL29_chr3_51988522_52000895 | 51993865 | T | TGGCC | frameshift_variant | HIGH | HG01496.hp2 HG02015.hp1 NA18969.hp2 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0007 | 6 | 320 | 0.0188 | 4 | c.363 others(11): Show |
p.Lys others(5): Show |
RPL29 | ENSG00000162244.12 | transcript | ENST00000294189.11 | protein_coding | 4/4 | 410/754 | 363/480 | 121/159 | chr3 | 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 | ||||||
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 | |||
SERPINB11_chr18_63697960_63728893 | 63712604 | G | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(200): Show |
a0001a0004a0013 | a0001c0002a0001c0005a0001c0009others(15): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0006others(18): Show | a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 others(79): Show |
203 | 420 | 0.4833 | 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 | |||
SKIL_chr3_170352715_170401835 | 170381326 | C | G | stop_gained | HIGH | NA19070.hp2 | a0010 | a0010c0012 | a0010c0012t0009 | a0010c0012t0009g0001 | 1 | 360 | 0.0028 | 0 | c.118 others(4): Show |
p.Ser others(4): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 3/7 | 1863/7155 | 1181/2055 | 394/684 | chr3 | TogoVar | |||
SLC11A1_chr2_218377273_218401894 | 218391401 | G | GC | frameshift_variant | HIGH | HG01192.hp1 HG01496.hp1 HG01978.hp1 others(8): Show |
a0003 | a0003c0009a0003c0013a0003c0015others(1): Show | a0003c0009t0001a0003c0013t0004a0003c0013t0007others(2): Show | a0003c0009t0001g0001 a0003c0009t0001g0012 a0003c0009t0001g0135 others(5): Show |
11 | 372 | 0.0296 | 1 | c.107 others(5): Show |
p.Ala others(5): Show |
SLC11A1 | ENSG00000018280.17 | transcript | ENST00000233202.11 | protein_coding | 11/15 | 1171/3608 | 1075/1653 | 359/550 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(159): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 others(78): Show |
162 | 400 | 0.4050 | 0 | c.288 others(3): Show |
p.Trp others(3): Show |
SLC22A10 | ENSG00000184999.13 | transcript | ENST00000332793.11 | protein_coding | 1/10 | 551/2638 | 288/1626 | 96/541 | chr11 | TogoVar | |||
SLC22A24_chr11_63074940_63149221 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0001c0007others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(255): Show |
267 | 364 | 0.7335 | 0 | c.150 others(4): Show |
p.Tyr others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 9/10 | 1945/2101 | 1503/1659 | 501/552 | chr11 | TogoVar | |||
SLC22A24_chr11_63074940_63149221 | 63083303 | G | A | stop_gained | HIGH | HG00423.hp2 HG01074.hp2 HG02074.hp2 others(18): Show |
a0001a0012 | a0001c0005a0012c0020 | a0001c0005t0001a0012c0020t0001 | a0001c0005t0001g0010 a0001c0005t0001g0011 a0001c0005t0001g0253 others(16): Show |
21 | 364 | 0.0577 | 0 | c.122 others(4): Show |
p.Gln others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 7/10 | 1667/2101 | 1225/1659 | 409/552 | chr11 | TogoVar | |||
SLC22A31_chr16_89190761_89205537 | 89196258 | GCCTGGCC others(74): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(169): Show |
a0002a0005a0006others(3): Show | a0002c0002a0002c0004a0002c0007others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(10): Show | a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show |
172 | 426 | 0.4038 | -81 | c.103 others(93): Show |
p.Arg others(5): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 9/9 | 1117/1615 | 1035/1341 | 345/446 | chr16 | TogoVar | |||
SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show |
316 | 410 | 0.7707 | 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 | |||
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 | a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 others(140): Show |
181 | 453 | 0.3996 | 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 | |||
SNX27_chr1_151607050_151704080 | 151692406 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(81): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0011 a0001c0001t0001g0190 a0001c0001t0001g0213 others(81): Show |
84 | 182 | 0.4615 | 1 | c.124 others(7): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87923373 | C | T | stop_gained | HIGH | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(39): Show |
a0005a0019a0029others(1): Show | a0005c0005a0005c0031a0019c0028others(2): Show | a0005c0005t0001a0005c0031t0001a0019c0028t0003others(2): Show | a0005c0005t0001g0002 a0005c0005t0001g0016 a0005c0031t0001g0002 others(3): Show |
42 | 386 | 0.1088 | 0 | c.346 others(4): Show |
p.Arg others(5): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4/4 | 3495/3779 | 3466/3567 | 1156/1188 | chr9 | TogoVar | |||
SPDYE21_chr7_67271941_67294005 | 67281505 | T | TGGGTGGC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show |
a0002a0009a0013others(2): Show | a0002c0002a0002c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0018others(6): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 others(50): Show |
131 | 458 | 0.2860 | 7 | c.514 others(14): Show |
p.Glu others(5): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 4/9 | 1065/3286 | 521/1209 | 174/402 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
SPSB2_chr12_6865935_6878303 | 6872998 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 others(6): Show |
77 | 396 | 0.1944 | 0 | c.-96 others(5): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
SRSF3_chr6_36589362_36610600 | 36601940 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG01074.hp1 HG01516.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0024others(2): Show | a0001c0001t0002g0031 a0001c0001t0002g0118 a0001c0001t0002g0144 others(5): Show |
8 | 252 | 0.0317 | 2 | c.468 others(13): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SULT1C3_chr2_108234968_108265886 | 108259008 | AAAACTTG others(15): Show |
A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(52): Show |
a0003a0014a0016 | a0003c0002a0003c0027a0014c0021others(1): Show | a0003c0002t0001a0003c0002t0004a0003c0027t0004others(2): Show | a0003c0002t0001g0094 a0003c0002t0001g0133 a0003c0002t0004g0002 others(19): Show |
55 | 374 | 0.1471 | -22 | c.669 others(29): Show |
p.Trp others(5): Show |
SULT1C3 | ENSG00000196228.5 | transcript | ENST00000681802.2 | protein_coding | 7/8 | 792/1244 | 669/915 | 223/304 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
TAF11L10_chr5_17592232_17602828 | 17597711 | TGGGTGCT others(724): Show |
T | start_lost others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show |
a0002 | a0002c0002a0002c0006a0002c0007 | a0002c0002t0001a0002c0006t0001a0002c0007t0001 | a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0007t0001g0000 |
150 | 352 | 0.4261 | -731 | c.-61 others(8): Show |
p.Met others(10): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 1/1 | 117/597 | 1/597 | 1/198 | chr5 | TogoVar | |||
TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(269): Show |
273 | 307 | 0.8893 | 1 | c.108 others(7): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82797739 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
a0001a0002a0006others(8): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0002g0223 a0001c0001t0002g0262 a0001c0001t0002g0301 others(115): Show |
118 | 268 | 0.4403 | 1 | c.772 others(6): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBKBP1_chr17_47689161_47717052 | 47708849 | T | TC | frameshift_variant | HIGH | HG00621.hp1 HG00642.hp1 HG00673.hp1 others(5): Show |
a0006a0007 | a0006c0008a0006c0022a0007c0010 | a0006c0008t0001a0006c0022t0001a0007c0010t0001 | a0006c0008t0001g0003 a0006c0008t0001g0069 a0006c0008t0001g0097 others(5): Show |
8 | 384 | 0.0208 | 1 | c.111 others(5): Show |
p.Val others(5): Show |
TBKBP1 | ENSG00000198933.11 | transcript | ENST00000578982.6 | protein_coding | 9/10 | 1188/3342 | 1120/1848 | 374/615 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |