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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
OXCT2_chr1_39764523_39776348 | 39770494 | GA | G | frameshift_variant | HIGH | HG00597.hp2 HG00609.hp2 HG00621.hp2 others(37): Show |
a0003a0005a0010others(2): Show | a0003c0004a0003c0008a0003c0012others(5): Show | a0003c0004t0004a0003c0008t0001a0003c0012t0004others(5): Show | a0003c0004t0004g0000 a0003c0008t0001g0000 a0003c0012t0004g0000 others(5): Show |
40 | 452 | 0.0885 | -1 | c.761 others(4): Show |
p.Phe others(5): Show |
OXCT2 | ENSG00000198754.5 | transcript | ENST00000327582.5 | protein_coding | 1/1 | 854/1826 | 761/1554 | 254/517 | chr1 | 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 | |||
PADI6_chr1_17367196_17406699 | 17398662 | C | CCCCACCC others(1): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp1 HG00408.hp2 HG00438.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0003others(9): Show | a0001c0001t0002g0101 a0001c0001t0002g0177 a0001c0001t0004g0129 others(34): Show |
52 | 227 | 0.2291 | 8 | c.169 others(22): Show |
PADI6 | ENSG00000276747.1 | transcript | ENST00000619609.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | 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 | |||
PEX6_chr6_42958865_42984181 | 42978553 | C | CCTCCCAG others(4): Show |
frameshift_variant | HIGH | NA19077.hp1 | a0019 | a0019c0025 | a0019c0025t0002 | a0019c0025t0002g0143 | 1 | 376 | 0.0027 | 11 | c.597 others(18): Show |
p.Gly others(5): Show |
PEX6 | ENSG00000124587.14 | transcript | ENST00000304611.13 | protein_coding | 1/17 | 628/3444 | 597/2943 | 199/980 | 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 | |||
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 | |||
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 | ||||||
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 | ||||||
PPFIBP1_chr12_27519206_27700564 | 27676557 | A | T | stop_gained | HIGH | NA19077.hp2 | a0012 | a0012c0027 | a0012c0027t0005 | a0012c0027t0005g0048 | 1 | 312 | 0.0032 | 0 | c.154 others(4): Show |
p.Lys others(4): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 18/30 | 1823/5983 | 1540/3018 | 514/1005 | chr12 | 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 | |||||||
PRR20A_chr13_57135918_57148939 | 57142529 | AC | A | frameshift_variant | HIGH | HG00609.hp1 HG00621.hp2 HG00673.hp2 others(30): Show |
a0002a0010 | a0002c0004a0002c0007a0002c0015others(2): Show | a0002c0004t0004a0002c0004t0015a0002c0004t0016others(9): Show | a0002c0004t0004g0003 a0002c0004t0004g0034 a0002c0004t0015g0003 others(10): Show |
33 | 328 | 0.1006 | -1 | c.209 others(4): Show |
p.Pro others(4): Show |
PRR20A | ENSG00000204919.1 | transcript | ENST00000377931.1 | protein_coding | 3/3 | 442/1847 | 209/666 | 70/221 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
PRSS48_chr4_151272161_151296862 | 151279866 | G | GCAGGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(86): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 others(20): Show |
89 | 426 | 0.2089 | 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(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 | |||
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 | |||
PTEN_chr10_87858625_87976930 | 87960876 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(27): Show | a0001c0001t0002g0012 a0001c0001t0002g0141 a0001c0001t0002g0207 others(84): Show |
87 | 311 | 0.2797 | 1 | c.802 others(6): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PZP_chr12_9143840_9213395 | 9181030 | G | A | stop_gained | HIGH | HG00423.hp1 HG02074.hp1 HG02083.hp2 others(14): Show |
a0005 | a0005c0008a0005c0019 | a0005c0008t0001a0005c0019t0001 | a0005c0008t0001g0022 a0005c0008t0001g0023 a0005c0008t0001g0132 others(12): Show |
17 | 332 | 0.0512 | 0 | c.179 others(4): Show |
p.Gln others(4): Show |
PZP | ENSG00000126838.10 | transcript | ENST00000261336.7 | protein_coding | 15/36 | 1846/4635 | 1792/4449 | 598/1482 | chr12 | TogoVar | |||
R3HDM1_chr2_135526484_135730269 | 135724075 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG01175.hp2 HG01192.hp1 others(9): Show |
a0005a0006a0007others(1): Show | a0005c0006a0006c0005a0007c0007others(1): Show | a0005c0006t0001a0005c0006t0003a0006c0005t0001others(3): Show | a0005c0006t0001g0010 a0005c0006t0001g0022 a0005c0006t0001g0126 others(9): Show |
12 | 229 | 0.0524 | 1 | c.319 others(5): Show |
p.Leu others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 27/27 | 3593/4781 | 3194/3405 | 1065/1134 | INFO_REALIGN_3_PRIME | chr2 | 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 | ||
RENBP_chrX_153930269_153949643 | 153943551 | A | AC | frameshift_variant | HIGH | HG01928.hp1 NA18950.hp2 NA18953.hp1 others(4): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0040 a0005c0005t0001g0041 a0005c0005t0001g0042 others(4): Show |
7 | 295 | 0.0237 | 1 | c.456 others(4): Show |
p.Tyr others(5): Show |
RENBP | ENSG00000102032.13 | transcript | ENST00000393700.8 | protein_coding | 5/11 | 489/1334 | 456/1284 | 152/427 | chrX | TogoVar | |||
RPF2_chr6_110977038_111033263 | 111008018 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02135.hp2 HG02717.hp1 NA19067.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0038 a0001c0001t0002g0196 a0001c0001t0002g0210 others(3): Show |
6 | 265 | 0.0226 | 1 | c.394 others(6): Show |
RPF2 | ENSG00000197498.13 | transcript | ENST00000441448.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | 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 | |||
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 | ||
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 | |||
SIX6_chr14_60504146_60517850 | 60509399 | A | G | start_lost | HIGH | NA19077.hp2 | a0006 | a0006c0007 | a0006c0007t0016 | a0006c0007t0016g0001 | 1 | 390 | 0.0026 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
SIX6 | ENSG00000184302.7 | transcript | ENST00000327720.6 | protein_coding | 1/2 | 254/2592 | 1/741 | 1/246 | chr14 | TogoVar | |||
SIX6_chr14_60504146_60517850 | 60509400 | T | C | start_lost | HIGH | NA19077.hp2 | a0006 | a0006c0007 | a0006c0007t0016 | a0006c0007t0016g0001 | 1 | 390 | 0.0026 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
SIX6 | ENSG00000184302.7 | transcript | ENST00000327720.6 | protein_coding | 1/2 | 255/2592 | 2/741 | 1/246 | chr14 | TogoVar | |||
SIX6_chr14_60504146_60517850 | 60509401 | G | C | start_lost | HIGH | NA19077.hp2 | a0006 | a0006c0007 | a0006c0007t0016 | a0006c0007t0016g0001 | 1 | 390 | 0.0026 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
SIX6 | ENSG00000184302.7 | transcript | ENST00000327720.6 | protein_coding | 1/2 | 256/2592 | 3/741 | 1/246 | chr14 | 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 | |||
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 | |||
SLC22A31_chr16_89190761_89205537 | 89198106 | GGGGCCCC others(11): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(28): Show |
a0004a0014 | a0004c0006a0004c0009a0014c0022 | a0004c0006t0001a0004c0009t0001a0014c0022t0001 | a0004c0006t0001g0006 a0004c0006t0001g0029 a0004c0009t0001g0008 others(1): Show |
31 | 426 | 0.0728 | -18 | c.920 others(28): Show |
p.Gln others(19): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 7/9 | 920/1341 | 307/446 | chr16 | TogoVar | ||||
SLC2A11_chr22_23852875_23891312 | 23884026 | T | C | splice_donor_variant others(1): Show |
HIGH | HG03688.hp1 NA19077.hp1 NA19091.hp2 |
a0006 | a0006c0007 | a0006c0007t0014 | a0006c0007t0014g0055 a0006c0007t0014g0109 a0006c0007t0014g0110 |
3 | 414 | 0.0072 | 0 | c.117 others(6): Show |
SLC2A11 | ENSG00000133460.20 | transcript | ENST00000316185.9 | protein_coding | 10/11 | chr22 | TogoVar | |||||||
SLC34A3_chr9_137225901_137241555 | 137236072 | TGGGTGGC others(4): Show |
T | frameshift_variant | HIGH | NA19077.hp2 | a0017 | a0017c0021 | a0017c0021t0001 | a0017c0021t0001g0001 | 1 | 418 | 0.0024 | -11 | c.145 others(20): Show |
p.Trp others(5): Show |
SLC34A3 | ENSG00000198569.10 | transcript | ENST00000673835.1 | protein_coding | 13/13 | 1535/2016 | 1458/1800 | 486/599 | INFO_REALIGN_3_PRIME | chr9 | 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 | |||
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 |
a0002a0014 | a0002c0002a0002c0015a0014c0024 | a0002c0002t0002a0002c0015t0002a0014c0024t0002 | a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0012 others(18): Show |
95 | 426 | 0.2230 | -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 | |||
SLFN13_chr17_35430096_35453766 | 35445639 | G | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(56): Show |
a0002 | a0002c0002a0002c0014a0002c0023others(6): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0011others(17): Show | a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0003g0060 others(25): Show |
59 | 454 | 0.1300 | 0 | c.42C others(2): Show |
p.Tyr others(3): Show |
SLFN13 | ENSG00000154760.14 | transcript | ENST00000285013.11 | protein_coding | 3/6 | 247/8398 | 42/2694 | 14/897 | chr17 | 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 | a0002c0002t0001g0007 a0002c0002t0001g0022 a0002c0002t0001g0029 others(24): Show |
60 | 428 | 0.1402 | 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 | |||
SOWAHB_chr4_76889152_76903144 | 76897034 | C | CGAGAGTC others(7): Show |
frameshift_variant | HIGH | NA19077.hp1 | a0014 | a0014c0012 | a0014c0012t0027 | a0014c0012t0027g0000 | 1 | 436 | 0.0023 | 14 | c.815 others(21): Show |
p.Pro others(5): Show |
SOWAHB | ENSG00000186212.4 | transcript | ENST00000334306.4 | protein_coding | 1/1 | 1110/3993 | 815/2382 | 272/793 | chr4 | TogoVar | |||
SOWAHB_chr4_76889152_76903144 | 76897116 | GCGCCTTC others(18): Show |
G | frameshift_variant | HIGH | NA19077.hp1 | a0014 | a0014c0012 | a0014c0012t0027 | a0014c0012t0027g0000 | 1 | 436 | 0.0023 | -25 | c.709 others(32): Show |
p.Ala others(5): Show |
SOWAHB | ENSG00000186212.4 | transcript | ENST00000334306.4 | protein_coding | 1/1 | 1028/3993 | 709/2382 | 237/793 | chr4 | 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 | |||
STAG2_chrX_123956706_124107656 | 124061743 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp1 HG00597.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 others(37): Show |
40 | 148 | 0.2703 | 3 | c.153 others(16): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0001a0002a0006others(9): Show | a0001c0001a0002c0002a0002c0006others(19): Show | a0001c0001t0024a0002c0002t0001a0002c0002t0003others(28): Show | a0001c0001t0024g0046 a0002c0002t0001g0001 a0002c0002t0001g0037 others(70): Show |
159 | 484 | 0.3285 | 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 | |||
TBC1D2_chr9_98194011_98260649 | 98255541 | T | C | start_lost | HIGH | HG02129.hp1 NA19077.hp2 |
a0008 | a0008c0020 | a0008c0020t0001 | a0008c0020t0001g0318 a0008c0020t0001g0319 |
2 | 364 | 0.0055 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TBC1D2 | ENSG00000095383.20 | transcript | ENST00000465784.7 | protein_coding | 1/13 | 109/3265 | 1/2787 | 1/928 | chr9 | 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 | 47709405 | A | AC | frameshift_variant | HIGH | HG02970.hp2 HG03516.hp2 NA18981.hp1 others(6): Show |
a0002a0005a0015others(1): Show | a0002c0024a0005c0009a0005c0015others(2): Show | a0002c0024t0001a0005c0009t0001a0005c0015t0001others(2): Show | a0002c0024t0001g0083 a0005c0009t0001g0005 a0005c0009t0001g0059 others(6): Show |
9 | 384 | 0.0234 | 1 | c.167 others(5): Show |
p.Ala others(5): Show |
TBKBP1 | ENSG00000198933.11 | transcript | ENST00000578982.6 | protein_coding | 9/10 | 1743/3342 | 1675/1848 | 559/615 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |