| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | ||
| PKD1_chr16_2083708_2140898 | 2100445 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00673.hp1 HG00673.hp2 others(14): Show |
a0002a0029a0030others(4): Show | a0002c0004a0002c0066a0002c0082others(9): Show | a0002c0004t0001a0002c0066t0001a0002c0082t0002others(9): Show | a0002c0004t0001g0041a0002c0004t0001g0060a0002c0004t0001g0063others(14): Show | 17 | 216 | 0.0787 | 1 | c.951 others(5): Show |
p.His others(6): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 27/46 | 9727/14140 | 9518/12912 | 3173/4303 | chr16 | TogoVar | ||
| PKHD1L1_chr8_109357461_109542207 | 109459837 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(14): Show |
a0001a0033a0036 | a0001c0001a0033c0058a0036c0078 | a0001c0001t0002a0001c0001t0010a0033c0058t0002others(1): Show | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(14): Show | 17 | 282 | 0.0603 | 0 | c.724 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 47/77 | chr8 | TogoVar | ||||||
| PKN1_chr19_14428306_14476859 | 14451928 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00597.hp2 HG01109.hp1 others(16): Show |
a0004a0009a0010 | a0004c0008a0004c0012a0004c0024others(7): Show | a0004c0008t0001a0004c0012t0001a0004c0024t0001others(7): Show | a0004c0008t0001g0109a0004c0008t0001g0194a0004c0008t0001g0281others(16): Show | 19 | 376 | 0.0505 | 1 | c.107 others(5): Show |
p.Phe others(5): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 7/22 | 1294/3120 | 1078/2829 | 360/942 | INFO_REALIGN_3_PRIME | chr19 | 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 | |||||
| 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 | ||||||
| PLPPR3_chr19_807488_826955 | 813562 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG01175.hp1 HG01934.hp1 others(4): Show |
a0000 | a0000c0009 | a0000c0009t0001a0000c0009t0002 | a0000c0009t0001g0024a0000c0009t0001g0068a0000c0009t0001g0119others(2): Show | 7 | 398 | 0.0176 | 1 | c.116 others(5): Show |
p.Ala others(5): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 8/8 | 1231/2306 | 1164/2157 | 388/718 | chr19 | TogoVar | ||
| PLXNC1_chr12_94143577_94312675 | 94303749 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG01255.hp2 HG01346.hp1 HG01496.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0024 | a0001c0001t0002a0008c0024t0002 | a0001c0001t0002g0037a0001c0001t0002g0046a0001c0001t0002g0103others(1): Show | 4 | 298 | 0.0134 | 1 | c.438 others(7): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 28/30 | INFO_REALIGN_3_PRIME | chr12 | 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 | 12881888 | A | AAACAGAG others(315): Show |
frameshift_variant others(1): Show |
HIGH | HG00280.hp2 HG00735.hp2 HG01081.hp1 others(14): Show |
a0003 | a0003c0004a0003c0027 | a0003c0004t0004a0003c0027t0004 | a0003c0004t0004g0005a0003c0004t0004g0017a0003c0004t0004g0075others(3): Show | 17 | 324 | 0.0525 | 322 | c.840 others(329): Show |
p.Ser others(5): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 3/4 | 911/1840 | 840/1437 | 280/478 | chr1 | TogoVar | ||
| PRR23D1_chr8_7534627_7547450 | 7541827 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(57): Show |
a0000 | a0000c0001a0000c0007a0000c0008others(2): Show | a0000c0001t0003a0000c0001t0004a0000c0001t0006others(8): Show | a0000c0001t0003g0001a0000c0001t0003g0012a0000c0001t0004g0001others(11): Show | 60 | 166 | 0.3615 | -1 | c.790 others(4): Show |
p.Val others(5): Show |
PRR23D1 | ENSG00000255251.2 | transcript | ENST00000533250.2 | protein_coding | 4/4 | 968/1588 | 790/840 | 264/279 | INFO_REALIGN_3_PRIME | chr8 | 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 | ||
| 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 | a0001c0001t0002g0009a0001c0001t0002g0144a0001c0001t0002g0211others(84): Show | 87 | 322 | 0.2702 | 1 | c.802 others(6): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PTPN23_chr3_47376021_47418435 | 47411089 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show |
a0002a0004a0005others(6): Show | a0002c0003a0002c0008a0002c0009others(19): Show | a0002c0003t0001a0002c0008t0001a0002c0008t0002others(20): Show | a0002c0003t0001g0001a0002c0003t0001g0002a0002c0003t0001g0012others(118): Show | 135 | 332 | 0.4066 | 1 | c.329 others(5): Show |
p.Arg others(6): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 3373/5237 | 3297/4911 | 1099/1636 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| PWWP4_chrX_153261152_153284145 | 153272495 | G | GGC | frameshift_variant | HIGH | HG01934.hp1 | a0016 | a0016c0020 | a0016c0020t0004 | a0016c0020t0004g0031 | 1 | 141 | 0.0071 | 2 | c.882 others(9): Show |
p.Gly others(5): Show |
PWWP4 | ENSG00000278803.3 | transcript | ENST00000458091.5 | protein_coding | 4/4 | 1427/8071 | 884/6186 | 295/2061 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PWWP4_chrX_153261152_153284145 | 153274042 | G | GC | frameshift_variant | HIGH | HG01934.hp1 | a0016 | a0016c0020 | a0016c0020t0004 | a0016c0020t0004g0031 | 1 | 141 | 0.0071 | 1 | c.242 others(5): Show |
p.Thr others(5): Show |
PWWP4 | ENSG00000278803.3 | transcript | ENST00000458091.5 | protein_coding | 4/4 | 2973/8071 | 2430/6186 | 810/2061 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PWWP4_chrX_153261152_153284145 | 153275487 | A | AG | frameshift_variant | HIGH | HG01934.hp1 HG02523.hp2 |
a0016a0018 | a0016c0020a0018c0017 | a0016c0020t0004a0018c0017t0003 | a0016c0020t0004g0031a0018c0017t0003g0028 | 2 | 141 | 0.0142 | 1 | c.387 others(5): Show |
p.Asp others(6): Show |
PWWP4 | ENSG00000278803.3 | transcript | ENST00000458091.5 | protein_coding | 4/4 | 4416/8071 | 3873/6186 | 1291/2061 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PWWP4_chrX_153261152_153284145 | 153276617 | A | AC | frameshift_variant | HIGH | HG01934.hp1 | a0016 | a0016c0020 | a0016c0020t0004 | a0016c0020t0004g0031 | 1 | 141 | 0.0071 | 1 | c.500 others(5): Show |
p.Gly others(6): Show |
PWWP4 | ENSG00000278803.3 | transcript | ENST00000458091.5 | protein_coding | 4/4 | 5548/8071 | 5005/6186 | 1669/2061 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| RAD52_chr12_906736_954694 | 913403 | A | C | stop_gained | HIGH | HG00741.hp2 HG01928.hp1 HG01934.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0011a0002c0002t0015 | a0002c0002t0006g0241a0002c0002t0011g0239a0002c0002t0011g0242others(4): Show | 7 | 400 | 0.0175 | 0 | c.124 others(4): Show |
p.Tyr others(4): Show |
RAD52 | ENSG00000002016.18 | transcript | ENST00000358495.8 | protein_coding | 12/12 | 1356/3023 | 1245/1257 | 415/418 | chr12 | TogoVar | ||
| RBMY1A1_chrY_21529879_21554326 | 21536898 | G | GA | frameshift_variant | HIGH | HG01934.hp2 | a0023 | a0023c0005 | a0023c0005t0001 | a0023c0005t0001g0053 | 1 | 64 | 0.0156 | 1 | c.9du others(2): Show |
p.Ala others(3): Show |
RBMY1A1 | ENSG00000234414.8 | transcript | ENST00000382707.6 | protein_coding | 2/12 | 162/1921 | 10/1491 | 4/496 | INFO_REALIGN_3_PRIME | chrY | 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 | |
| RXFP2_chr13_31734526_31808389 | 31786554 | T | TAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(101): Show |
a0001a0006a0007 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(101): Show | 104 | 386 | 0.2694 | 3 | c.100 others(16): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SBNO2_chr19_1102638_1179268 | 1108505 | C | CG | frameshift_variant | HIGH | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(11): Show |
a0000 | a0000c0009a0000c0014a0000c0017others(3): Show | a0000c0009t0001a0000c0009t0003a0000c0014t0001others(4): Show | a0000c0009t0001g0053a0000c0009t0001g0152a0000c0009t0001g0168others(11): Show | 14 | 203 | 0.0690 | 1 | c.381 others(5): Show |
p.His others(6): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 32/32 | 4038/4906 | 3815/4101 | 1272/1366 | chr19 | TogoVar | ||
| SCART1_chr10_133448945_133474760 | 133457333 | TC | T | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(90): Show |
a0003a0004 | a0003c0003a0003c0007a0003c0008others(16): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(20): Show | 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 | |
| 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 | ||
| SERPINB11_chr18_63697960_63728893 | 63723255 | GGCAGCAG others(7): Show |
G | frameshift_variant | HIGH | HG01934.hp1 | a0004 | a0004c0023 | a0004c0023t0002 | a0004c0023t0002g0095 | 1 | 422 | 0.0024 | -14 | c.103 others(23): Show |
p.Ala others(5): Show |
SERPINB11 | ENSG00000206072.13 | transcript | ENST00000544088.6 | protein_coding | 8/8 | 1098/1735 | 1036/1179 | 346/392 | chr18 | TogoVar | ||
| SETD1B_chr12_121799009_121837656 | 121814258 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00639.hp1 HG01934.hp1 others(8): Show |
a0004a0005 | a0004c0008a0004c0020a0004c0021others(3): Show | a0004c0008t0003a0004c0020t0001a0004c0021t0002others(4): Show | a0004c0008t0003g0136a0004c0008t0003g0154a0004c0008t0003g0163others(8): Show | 11 | 262 | 0.0420 | 1 | c.204 others(5): Show |
p.Pro others(5): Show |
SETD1B | ENSG00000139718.12 | transcript | ENST00000604567.6 | protein_coding | 7/17 | 2288/8557 | 2049/5901 | 683/1966 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| SETD1B_chr12_121799009_121837656 | 121814285 | G | GC | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(24): Show |
a0002a0005a0022 | a0002c0004a0002c0006a0002c0007others(7): Show | a0002c0004t0002a0002c0004t0004a0002c0006t0001others(11): Show | a0002c0004t0002g0010a0002c0004t0002g0011a0002c0004t0002g0055others(23): Show | 27 | 262 | 0.1031 | 1 | c.207 others(5): Show |
p.Pro others(5): Show |
SETD1B | ENSG00000139718.12 | transcript | ENST00000604567.6 | protein_coding | 7/17 | 2318/8557 | 2079/5901 | 693/1966 | INFO_REALIGN_3_PRIME | chr12 | 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 | ||
| SLAIN1_chr13_77692687_77769229 | 77698132 | T | TGG | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(279): Show | 299 | 300 | 0.9967 | 2 | c.220 others(9): Show |
p.Leu others(4): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/7 | 449/3009 | 222/1773 | 74/590 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
| SLAIN1_chr13_77692687_77769229 | 77698141 | G | GC | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(279): Show | 299 | 300 | 0.9967 | 1 | c.230 others(4): Show |
p.Leu others(4): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/7 | 458/3009 | 231/1773 | 77/590 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
| SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(160): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0001a0002c0002t0002g0004a0002c0002t0002g0005others(95): Show | 163 | 402 | 0.4055 | 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 | ||
| 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 | ||
| SLX4_chr16_3576181_3616606 | 3589855 | C | CG | frameshift_variant | HIGH | HG00423.hp2 HG00621.hp1 HG00741.hp1 others(8): Show |
a0006a0010a0023others(1): Show | a0006c0014a0006c0033a0006c0042others(6): Show | a0006c0014t0001a0006c0033t0001a0006c0042t0001others(6): Show | a0006c0014t0001g0162a0006c0014t0001g0186a0006c0014t0001g0187others(8): Show | 11 | 396 | 0.0278 | 1 | c.378 others(5): Show |
p.Leu others(6): Show |
SLX4 | ENSG00000188827.12 | transcript | ENST00000294008.4 | protein_coding | 12/15 | 4431/7315 | 3782/5505 | 1261/1834 | chr16 | TogoVar | ||
| SMAD5_chr5_136127845_136187733 | 136147819 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0009others(108): Show | 140 | 294 | 0.4762 | 1 | c.-24 others(7): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SMARCA2_chr9_2010347_2198620 | 2086946 | A | AC | frameshift_variant | HIGH | HG00642.hp1 HG00741.hp2 HG01928.hp2 others(6): Show |
a0005a0021 | a0005c0018a0005c0019a0005c0028others(2): Show | a0005c0018t0001a0005c0018t0002a0005c0019t0001others(4): Show | a0005c0018t0001g0179a0005c0018t0001g0231a0005c0018t0002g0246others(6): Show | 9 | 316 | 0.0285 | 1 | c.264 others(5): Show |
p.Leu others(5): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 18/34 | 2743/5748 | 2649/4773 | 883/1590 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| SNED1_chr2_240993618_241100568 | 240998897 | C | CG | frameshift_variant | HIGH | HG01934.hp1 HG01993.hp1 HG03654.hp2 others(5): Show |
a0007 | a0007c0027a0007c0038a0007c0039others(4): Show | a0007c0027t0001a0007c0027t0002a0007c0038t0018others(5): Show | a0007c0027t0001g0267a0007c0027t0002g0012a0007c0038t0018g0159others(5): Show | 8 | 344 | 0.0233 | 1 | c.64d others(3): Show |
p.Val others(4): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/32 | 285/8394 | 65/4242 | 22/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| SNX27_chr1_151607050_151704080 | 151692406 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0113a0001c0001t0001g0117a0001c0001t0001g0118others(82): Show | 85 | 366 | 0.2322 | 1 | c.124 others(7): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | 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 | ||
| SPATA31A3_chr9_66981304_66997550 | 66988619 | G | A | stop_gained | HIGH | HG01081.hp1 HG01167.hp1 HG01192.hp1 others(19): Show |
a0006a0014a0018others(1): Show | a0006c0005a0006c0056a0006c0057others(4): Show | a0006c0005t0001a0006c0056t0001a0006c0057t0001others(4): Show | a0006c0005t0001g0009a0006c0005t0001g0023a0006c0005t0001g0036others(9): Show | 22 | 406 | 0.0542 | 0 | c.187 others(4): Show |
p.Gln others(4): Show |
SPATA31A3 | ENSG00000275969.3 | transcript | ENST00000428649.5 | protein_coding | 4/4 | 1908/4223 | 1879/4044 | 627/1347 | chr9 | TogoVar | ||
| SPDYE21_chr7_67271941_67294005 | 67281505 | T | TGGGTGGC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show |
a0002a0009a0012others(2): Show | a0002c0002a0002c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0017others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(50): Show | 131 | 460 | 0.2848 | 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 | |
| SPRR5_chr1_152942206_152954255 | 152948706 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00642.hp2 HG01934.hp2 others(11): Show |
a0000 | a0000c0003a0000c0011a0000c0013 | a0000c0003t0001a0000c0003t0003a0000c0011t0002others(1): Show | a0000c0003t0001g0001a0000c0003t0001g0002a0000c0003t0001g0007others(4): Show | 14 | 436 | 0.0321 | 1 | c.158 others(4): Show |
p.Pro others(4): Show |
SPRR5 | ENSG00000283227.2 | transcript | ENST00000636302.2 | protein_coding | 2/2 | 220/762 | 159/327 | 53/108 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| ST6GAL2_chr2_106796600_106891167 | 106843196 | A | ACG | frameshift_variant | HIGH | HG01169.hp2 HG01934.hp1 HG01993.hp2 others(5): Show |
a0008a0010 | a0008c0014a0008c0015a0008c0028others(3): Show | a0008c0014t0008a0008c0014t0018a0008c0015t0088others(5): Show | a0008c0014t0008g0284a0008c0014t0018g0024a0008c0015t0088g0245others(5): Show | 8 | 372 | 0.0215 | 2 | c.780 others(9): Show |
p.Val others(5): Show |
ST6GAL2 | ENSG00000144057.16 | transcript | ENST00000409382.8 | protein_coding | 2/6 | 913/6800 | 781/1590 | 261/529 | chr2 | TogoVar | ||
| STARD6_chr18_54319492_54362858 | 54354519 | G | A | stop_gained | HIGH | HG01346.hp1 HG01934.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0122a0004c0005t0001g0123 | 2 | 350 | 0.0057 | 0 | c.55C others(2): Show |
p.Arg others(3): Show |
STARD6 | ENSG00000174448.9 | transcript | ENST00000307844.4 | protein_coding | 3/8 | 210/1018 | 55/663 | 19/220 | chr18 | TogoVar | ||
| STARD7_chr2_96179859_96213827 | 96192461 | C | CCACAGCA others(43): Show |
frameshift_variant | HIGH | HG01934.hp2 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0226 | 1 | 358 | 0.0028 | 50 | c.744 others(60): Show |
p.Glu others(5): Show |
STARD7 | ENSG00000084090.14 | transcript | ENST00000337288.10 | protein_coding | 6/8 | 1143/3377 | 750/1113 | 250/370 | chr2 | TogoVar | ||
| SYCE1L_chr16_77194408_77218215 | 77212288 | TGGTGCGC others(123): Show |
T | frameshift_variant others(3): Show |
HIGH | HG01934.hp2 | a0010 | a0010c0012 | a0010c0012t0002 | a0010c0012t0002g0173 | 1 | 442 | 0.0023 | -130 | c.503 others(10): Show |
p.Val others(5): Show |
SYCE1L | ENSG00000205078.6 | transcript | ENST00000378644.5 | protein_coding | 9/11 | 547/1057 | 503/729 | 168/242 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |