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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGPEP1L_chr15_98963229_99012792 | 98968575 | A | AC | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(166): Show |
a0000 | a0000c0002a0000c0005a0000c0010 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(16): Show | a0000c0002t0001g0001a0000c0002t0001g0003a0000c0002t0001g0004others(162): Show | 169 | 398 | 0.4246 | 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 | ||
PIGS_chr17_28548387_28576524 | 28554871 | T | A | stop_gained | HIGH | NA18977.hp1 | a0005 | a0005c0006 | a0005c0006t0014 | a0005c0006t0014g0146 | 1 | 330 | 0.0030 | 0 | c.137 others(4): Show |
p.Lys others(4): Show |
PIGS | ENSG00000087111.22 | transcript | ENST00000308360.8 | protein_coding | 11/12 | 1400/2529 | 1372/1668 | 458/555 | chr17 | TogoVar | ||
PIGS_chr17_28548387_28576524 | 28554895 | CCAGAAGC others(39): Show |
C | frameshift_variant | HIGH | NA18977.hp1 | a0005 | a0005c0006 | a0005c0006t0014 | a0005c0006t0014g0146 | 1 | 330 | 0.0030 | -46 | c.130 others(55): Show |
p.Asn others(5): Show |
PIGS | ENSG00000087111.22 | transcript | ENST00000308360.8 | protein_coding | 11/12 | 1375/2529 | 1302/1668 | 434/555 | 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 | ||
PLEKHA2_chr8_38896346_38978912 | 38901439 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(334): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(332): Show | 337 | 376 | 0.8963 | 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 |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(4): Show | a0001c0001t0001g0086a0001c0001t0001g0096a0001c0001t0001g0111others(43): Show | 79 | 364 | 0.2170 | 1 | c.183 others(7): Show |
PLK4 | ENSG00000142731.11 | transcript | ENST00000270861.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PLXNB3_chrX_153759249_153784341 | 153771878 | C | CG | frameshift_variant | HIGH | NA18977.hp1 | a0026 | a0026c0040 | a0026c0040t0001 | a0026c0040t0001g0002 | 1 | 308 | 0.0033 | 1 | c.253 others(5): Show |
p.Pro others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 15/36 | 2656/6153 | 2535/5730 | 845/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153774273 | A | AC | frameshift_variant | HIGH | NA18977.hp1 | a0026 | a0026c0040 | a0026c0040t0001 | a0026c0040t0001g0002 | 1 | 308 | 0.0033 | 1 | c.361 others(5): Show |
p.His others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 21/36 | 3732/6153 | 3611/5730 | 1204/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153073692 | C | CA | frameshift_variant | HIGH | NA18977.hp1 | a0015 | a0015c0017 | a0015c0017t0015 | a0015c0017t0015g0001 | 1 | 86 | 0.0116 | 1 | c.630 others(8): Show |
p.Ala others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 912/2238 | 631/1200 | 211/399 | chrX | TogoVar | ||
PNMA6A_chrX_153067454_153080019 | 153073786 | C | CG | frameshift_variant | HIGH | NA18977.hp1 | a0015 | a0015c0017 | a0015c0017t0015 | a0015c0017t0015g0001 | 1 | 86 | 0.0116 | 1 | c.727 others(4): Show |
p.Val others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1009/2238 | 728/1200 | 243/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153074094 | C | CG | frameshift_variant | HIGH | NA18977.hp1 | a0015 | a0015c0017 | a0015c0017t0015 | a0015c0017t0015g0001 | 1 | 86 | 0.0116 | 1 | c.103 others(5): Show |
p.Ala others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1316/2238 | 1035/1200 | 345/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153074150 | TC | T | frameshift_variant | HIGH | NA18977.hp1 | a0015 | a0015c0017 | a0015c0017t0015 | a0015c0017t0015g0001 | 1 | 86 | 0.0116 | -1 | c.109 others(5): Show |
p.Pro others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1372/2238 | 1091/1200 | 364/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
POR_chr7_75910155_75991855 | 75985794 | C | CG | frameshift_variant | HIGH | HG01361.hp1 HG02572.hp1 NA18977.hp2 others(5): Show |
a0003a0004a0009 | a0003c0010a0004c0012a0004c0021others(1): Show | a0003c0010t0001a0003c0010t0002a0004c0012t0001others(2): Show | a0003c0010t0001g0227a0003c0010t0002g0061a0003c0010t0002g0205others(5): Show | 8 | 278 | 0.0288 | 1 | c.160 others(5): Show |
p.Val others(5): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 13/16 | 1648/2446 | 1610/2034 | 537/677 | INFO_REALIGN_3_PRIME | 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 | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0006others(80): Show | 88 | 382 | 0.2304 | 0 | c.-70 others(5): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
PRAMEF2_chr1_12852086_12866909 | 12860036 | G | T | stop_gained | HIGH | HG00642.hp2 HG01515.hp2 HG02071.hp1 others(25): Show |
a0002a0014 | a0002c0002a0002c0022a0002c0023others(1): Show | a0002c0002t0003a0002c0022t0003a0002c0023t0008others(1): Show | a0002c0002t0003g0005a0002c0002t0003g0022a0002c0002t0003g0023others(3): Show | 28 | 338 | 0.0828 | 0 | c.631 others(3): Show |
p.Glu others(4): Show |
PRAMEF2 | ENSG00000120952.4 | transcript | ENST00000240189.2 | protein_coding | 3/4 | 718/1642 | 631/1425 | 211/474 | chr1 | TogoVar | ||
PRAMEF33_chr1_13298539_13313907 | 13307108 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
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 | ||
PRB3_chr12_11260914_11274707 | 11267401 | GGTGGGGG others(118): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(22): Show |
a0004 | a0004c0004 | a0004c0004t0002a0004c0004t0004 | a0004c0004t0002g0005a0004c0004t0002g0034a0004c0004t0004g0036 | 25 | 443 | 0.0564 | -125 | c.723 others(7): Show |
p.Arg others(5): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 885/1227 | 723/1056 | 241/351 | chr12 | TogoVar | ||
PRPF3_chr1_150316533_150358233 | 150324880 | C | CTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(297): Show | 306 | 362 | 0.8453 | 4 | c.-48 others(15): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRR22_chr19_5777960_5789746 | 5783689 | T | TG | frameshift_variant | HIGH | HG00642.hp2 HG01496.hp1 HG01496.hp2 others(13): Show |
a0004a0005 | a0004c0005a0005c0008a0005c0014 | a0004c0005t0001a0005c0008t0001a0005c0014t0001 | a0004c0005t0001g0008a0004c0005t0001g0030a0005c0008t0001g0016others(2): Show | 16 | 382 | 0.0419 | 1 | c.557 others(4): Show |
p.Pro others(5): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 3/3 | 643/1373 | 557/1269 | 186/422 | chr19 | 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 | ||
PTPN23_chr3_47376021_47418435 | 47410831 | A | AC | frameshift_variant | HIGH | HG00140.hp2 HG00597.hp1 HG00738.hp2 others(33): Show |
a0005a0006 | a0005c0007a0005c0010a0005c0029others(7): Show | a0005c0007t0001a0005c0010t0001a0005c0029t0001others(7): Show | a0005c0007t0001g0001a0005c0007t0001g0008a0005c0007t0001g0016others(31): Show | 36 | 332 | 0.1084 | 1 | c.304 others(5): Show |
p.Leu others(6): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 3117/5237 | 3041/4911 | 1014/1636 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
PTPRQ_chr12_80439235_80685273 | 80484408 | T | TTTTC | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG01074.hp2 HG01192.hp2 others(31): Show |
a0003a0005a0009others(14): Show | a0003c0003a0003c0079a0005c0004others(16): Show | a0003c0003t0001a0003c0003t0002a0003c0079t0001others(20): Show | a0003c0003t0001g0105a0003c0003t0001g0107a0003c0003t0002g0104others(31): Show | 34 | 178 | 0.1910 | 4 | c.118 others(17): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 8/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PTPRQ_chr12_80439235_80685273 | 80495954 | G | GTATTATT others(64): Show |
frameshift_variant others(1): Show |
HIGH | NA18977.hp1 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0069 | 1 | 178 | 0.0056 | 71 | c.188 others(83): Show |
p.Met others(5): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 13/45 | 2022/8261 | 1911/6900 | 637/2299 | INFO_REALIGN_3_PRIME | chr12 | 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 | a0001c0001t0002g0010a0001c0001t0002g0100a0001c0001t0002g0114others(188): Show | 253 | 390 | 0.6487 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | ||||||
RAD52_chr12_906736_954694 | 914052 | G | T | stop_gained | HIGH | HG00609.hp2 HG02683.hp2 HG03669.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0007a0003c0003t0012others(1): Show | a0003c0003t0005g0035a0003c0003t0007g0036a0003c0003t0012g0031others(3): Show | 6 | 400 | 0.0150 | 0 | c.103 others(4): Show |
p.Ser others(4): Show |
RAD52 | ENSG00000002016.18 | transcript | ENST00000358495.8 | protein_coding | 11/12 | 1148/3023 | 1037/1257 | 346/418 | chr12 | 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 | a0002c0005t0002g0136a0002c0005t0002g0168a0002c0005t0003g0145others(33): Show | 36 | 290 | 0.1241 | 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(144): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(111): Show | 147 | 378 | 0.3889 | 2 | c.158 others(15): Show |
RECQL5 | ENSG00000108469.15 | transcript | ENST00000317905.10 | protein_coding | 11/19 | chr17 | TogoVar | ||||||
RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0008a0003c0004others(16): Show | a0002c0002t0001a0002c0008t0001a0003c0004t0001others(16): Show | a0002c0002t0001g0003a0002c0002t0001g0011a0002c0002t0001g0014others(130): Show | 232 | 438 | 0.5297 | 1 | c.127 others(5): Show |
p.Asp others(5): Show |
RHBG | ENSG00000132677.13 | transcript | ENST00000537040.6 | protein_coding | 9/10 | 1311/1790 | 1272/1377 | 424/458 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
RPL28_chr19_55380932_55397085 | 55388029 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00621.hp1 others(52): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(14): Show | a0000c0002t0001g0001a0000c0002t0001g0020a0000c0002t0002g0001others(17): Show | 55 | 314 | 0.1752 | 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 | |
RPS6KA3_chrX_20144911_20271909 | 20172823 | CT | C | frameshift_variant | HIGH | NA18977.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0112 | 1 | 212 | 0.0047 | -1 | c.127 others(5): Show |
p.Glu others(5): Show |
RPS6KA3 | ENSG00000177189.14 | transcript | ENST00000379565.9 | protein_coding | 15/22 | 1552/7987 | 1275/2223 | 425/740 | chrX | TogoVar | ||
RTL5_chrX_72122110_72136915 | 72130723 | TG | T | frameshift_variant | HIGH | NA18977.hp1 | a0004 | a0004c0009 | a0004c0009t0017 | a0004c0009t0017g0000 | 1 | 308 | 0.0033 | -1 | c.817 others(4): Show |
p.Gln others(5): Show |
RTL5 | ENSG00000242732.6 | transcript | ENST00000609883.3 | protein_coding | 1/1 | 1192/4806 | 817/1710 | 273/569 | chrX | TogoVar | ||
RTL5_chrX_72122110_72136915 | 72130994 | C | CG | frameshift_variant | HIGH | NA18977.hp1 | a0004 | a0004c0009 | a0004c0009t0017 | a0004c0009t0017g0000 | 1 | 308 | 0.0033 | 1 | c.546 others(4): Show |
p.Gly others(5): Show |
RTL5 | ENSG00000242732.6 | transcript | ENST00000609883.3 | protein_coding | 1/1 | 921/4806 | 546/1710 | 182/569 | chrX | TogoVar | ||
RTL5_chrX_72122110_72136915 | 72131157 | C | CG | frameshift_variant | HIGH | NA18977.hp1 | a0004 | a0004c0009 | a0004c0009t0017 | a0004c0009t0017g0000 | 1 | 308 | 0.0033 | 1 | c.383 others(4): Show |
p.Pro others(5): Show |
RTL5 | ENSG00000242732.6 | transcript | ENST00000609883.3 | protein_coding | 1/1 | 758/4806 | 383/1710 | 128/569 | chrX | TogoVar | ||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TAA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0012a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(97): Show | 102 | 386 | 0.2643 | 2 | c.100 others(15): 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 |
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 | ||
SCIN_chr7_12565720_12665182 | 12570952 | C | T | stop_gained | HIGH | NA18951.hp2 NA18966.hp2 NA18977.hp1 others(3): Show |
a0005 | a0005c0008a0005c0023 | a0005c0008t0002a0005c0008t0098a0005c0008t0195others(3): Show | a0005c0008t0002g0118a0005c0008t0098g0077a0005c0008t0195g0120others(3): Show | 6 | 372 | 0.0161 | 0 | c.166 others(3): Show |
p.Arg others(3): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 1/16 | 233/9682 | 166/2148 | 56/715 | chr7 | 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 | |
SERPINB11_chr18_63697960_63728893 | 63712604 | G | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001a0004a0013 | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0005others(18): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0014others(79): Show | 204 | 422 | 0.4834 | 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 | ||
SIGLEC12_chr19_51486227_51506800 | 51501537 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0003a0001c0010others(23): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(27): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0012others(92): Show | 229 | 432 | 0.5301 | 1 | c.196 others(4): Show |
p.Ala others(4): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 263/2269 | 196/1788 | 66/595 | chr19 | TogoVar | ||
SIGLEC14_chr19_51634478_51651825 | 51646445 | G | GGGTTGTT others(16427): Show |
stop_gained others(1): Show |
HIGH | NA18977.hp1 | a0010 | a0010c0007 | a0010c0007t0003 | a0010c0007t0003g0038 | 1 | 300 | 0.0033 | 16434 | c.232 others(16441): Show |
p.Asn others(16445): Show |
SIGLEC14 | ENSG00000254415.4 | transcript | ENST00000360844.7 | protein_coding | 2/7 | 298/5134 | 232/1191 | 78/396 | chr19 | TogoVar | ||
SLC17A7_chr19_49424401_49446527 | 49434802 | ACACAGCC others(19): Show |
A | frameshift_variant | HIGH | NA18977.hp1 | a0004 | a0004c0005 | a0004c0005t0018 | a0004c0005t0018g0089 | 1 | 414 | 0.0024 | -26 | c.489 others(33): Show |
p.Ala others(5): Show |
SLC17A7 | ENSG00000104888.10 | transcript | ENST00000221485.8 | protein_coding | 4/12 | 662/2949 | 489/1683 | 163/560 | chr19 | TogoVar | ||
SLC22A24_chr11_63074940_63149221 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0017a0002c0002others(14): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(16): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(263): Show | 268 | 366 | 0.7322 | 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 | ||
SLC35G4_chr18_11604596_11615612 | 11609896 | C | T | stop_gained | HIGH | HG03471.hp1 NA18977.hp1 NA18982.hp1 others(3): Show |
a0010a0016 | a0010c0011a0016c0017 | a0010c0011t0000a0016c0017t0000 | a0010c0011t0000g0000a0016c0017t0000g0000 | 6 | 444 | 0.0135 | 0 | c.301 others(3): Show |
p.Arg others(4): Show |
SLC35G4 | ENSG00000236396.8 | transcript | ENST00000588001.2 | protein_coding | 1/1 | 301/1017 | 301/1017 | 101/338 | chr18 | 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 | ||
SOHLH1_chr9_135688407_135704481 | 135697628 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 418 | 0.0024 | 0 | c.346 others(5): Show |
SOHLH1 | ENSG00000165643.11 | transcript | ENST00000425225.2 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
SON_chr21_33538038_33582481 | 33576378 | G | GA | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | 1 | c.723 others(5): Show |
p.Ala others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7292/8393 | 7237/7281 | 2413/2426 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
SON_chr21_33538038_33582481 | 33576390 | GA | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | -1 | c.724 others(5): Show |
p.Arg others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7303/8393 | 7248/7281 | 2416/2426 | chr21 | TogoVar | ||
SOWAHD_chrX_119753588_119765202 | 119759556 | C | CG | frameshift_variant | HIGH | NA18977.hp1 NA18992.hp2 |
a0003 | a0003c0008a0003c0010 | a0003c0008t0001a0003c0010t0001 | a0003c0008t0001g0000a0003c0010t0001g0000 | 2 | 322 | 0.0062 | 1 | c.892 others(4): Show |
p.Val others(5): Show |
SOWAHD | ENSG00000187808.5 | transcript | ENST00000343905.5 | protein_coding | 1/1 | 973/1615 | 893/948 | 298/315 | INFO_REALIGN_3_PRIME | chrX | TogoVar |