| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FRAS1_chr4_78052323_78549269 | 78452175 | A | G | missense_variant others(1): Show |
MODERATE | HG03195.hp2 | a0087 | a0087c0111 | a0087c0111t0024 | a0087c0111t0024g0129 | 1 | 178 | 0.0056 | 0 | c.658 others(4): Show |
p.Glu others(7): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 47/74 | 7271/15871 | 6584/12039 | 2195/4012 | chr4 | TogoVar | ||
| FRAS1_chr4_78052323_78549269 | 78464590 | G | A | splice_region_variant others(1): Show |
LOW | HG02572.hp2 | a0006 | a0006c0099 | a0006c0099t0007 | a0006c0099t0007g0166 | 1 | 178 | 0.0056 | 0 | c.702 others(6): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 49/73 | chr4 | TogoVar | ||||||
| FRAS1_chr4_78052323_78549269 | 78499715 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00544.hp2 HG00597.hp1 others(27): Show |
a0002a0004a0005others(16): Show | a0002c0053a0004c0018a0005c0004others(17): Show | a0002c0053t0043a0004c0018t0001a0004c0018t0016others(22): Show | a0002c0053t0043g0032a0004c0018t0001g0079a0004c0018t0016g0131others(27): Show | 30 | 178 | 0.1685 | 0 | c.911 others(6): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 60/73 | chr4 | TogoVar | ||||||
| FRAS1_chr4_78052323_78549269 | 78499716 | C | A | splice_region_variant others(1): Show |
LOW | HG03710.hp1 | a0016 | a0016c0014 | a0016c0014t0007 | a0016c0014t0007g0147 | 1 | 178 | 0.0056 | 0 | c.911 others(6): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 60/73 | chr4 | TogoVar | ||||||
| FRAS1_chr4_78052323_78549269 | 78499716 | C | G | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(84): Show |
a0002a0004a0005others(46): Show | a0002c0003a0002c0043a0002c0052others(57): Show | a0002c0003t0001a0002c0003t0003a0002c0003t0019others(71): Show | a0002c0003t0001g0005a0002c0003t0001g0017a0002c0003t0001g0024others(84): Show | 87 | 178 | 0.4888 | 0 | c.911 others(6): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 60/73 | chr4 | TogoVar | ||||||
| FRAS1_chr4_78052323_78549269 | 78507417 | G | A | splice_region_variant others(1): Show |
LOW | HG02976.hp2 | a0062 | a0062c0082 | a0062c0082t0017 | a0062c0082t0017g0100 | 1 | 178 | 0.0056 | 0 | c.931 others(6): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 61/73 | chr4 | TogoVar | ||||||
| FREM1_chr9_14732152_14915428 | 14740238 | A | C | splice_region_variant others(1): Show |
LOW | HG01074.hp2 HG01243.hp2 HG02280.hp2 others(8): Show |
a0001a0003a0028others(6): Show | a0001c0161a0001c0173a0003c0003others(8): Show | a0001c0161t0001a0001c0173t0001a0003c0003t0003others(8): Show | a0001c0161t0001g0047a0001c0173t0001g0065a0003c0003t0003g0344others(8): Show | 11 | 346 | 0.0318 | 0 | c.625 others(6): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 35/36 | chr9 | TogoVar | ||||||
| FREM1_chr9_14732152_14915428 | 14746347 | C | A | splice_region_variant others(1): Show |
LOW | HG04115.hp1 | a0007 | a0007c0032 | a0007c0032t0011 | a0007c0032t0011g0002 | 1 | 346 | 0.0029 | 0 | c.625 others(6): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 35/36 | chr9 | TogoVar | ||||||
| FREM1_chr9_14732152_14915428 | 14746472 | A | G | splice_region_variant others(1): Show |
LOW | HG03139.hp2 HG03516.hp2 NA18906.hp2 |
a0003a0033 | a0003c0069a0033c0028 | a0003c0069t0004a0033c0028t0003a0033c0028t0007 | a0003c0069t0004g0175a0033c0028t0003g0248a0033c0028t0007g0313 | 3 | 346 | 0.0087 | 0 | c.613 others(6): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 34/36 | chr9 | TogoVar | ||||||
| FREM1_chr9_14732152_14915428 | 14746472 | A | T | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG02886.hp1 |
a0001a0009 | a0001c0047a0009c0168 | a0001c0047t0008a0009c0168t0004 | a0001c0047t0008g0102a0009c0168t0004g0240 | 2 | 346 | 0.0058 | 0 | c.613 others(6): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 34/36 | chr9 | TogoVar | ||||||
| FREM1_chr9_14732152_14915428 | 14756453 | A | AG | splice_region_variant others(1): Show |
LOW | HG00558.hp1 HG02027.hp1 HG02056.hp1 others(3): Show |
a0001a0019a0090 | a0001c0008a0001c0123a0019c0044others(1): Show | a0001c0008t0002a0001c0123t0001a0019c0044t0001others(1): Show | a0001c0008t0002g0153a0001c0008t0002g0325a0001c0123t0001g0166others(3): Show | 6 | 346 | 0.0173 | 1 | c.533 others(7): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 28/36 | chr9 | TogoVar | ||||||
| FREM1_chr9_14732152_14915428 | 14770805 | A | G | missense_variant others(1): Show |
MODERATE | NA18960.hp1 | a0076 | a0076c0206 | a0076c0206t0002 | a0076c0206t0002g0324 | 1 | 346 | 0.0029 | 0 | c.485 others(4): Show |
p.Val others(7): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 26/37 | 5641/7566 | 4859/6540 | 1620/2179 | chr9 | TogoVar | ||
| FREM1_chr9_14732152_14915428 | 14775781 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00438.hp1 HG00733.hp1 others(39): Show |
a0001a0002a0003others(23): Show | a0001c0011a0002c0021a0002c0023others(30): Show | a0001c0011t0001a0002c0021t0001a0002c0023t0002others(32): Show | a0001c0011t0001g0025a0002c0021t0001g0138a0002c0021t0001g0144others(39): Show | 42 | 346 | 0.1214 | 0 | c.485 others(6): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 25/36 | chr9 | TogoVar | ||||||
| FREM1_chr9_14732152_14915428 | 14806850 | C | A | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG00642.hp2 HG01071.hp1 others(38): Show |
a0010a0012a0014others(15): Show | a0010c0025a0010c0027a0010c0049others(28): Show | a0010c0025t0001a0010c0027t0001a0010c0027t0002others(29): Show | a0010c0025t0001g0297a0010c0025t0001g0298a0010c0027t0001g0233others(38): Show | 41 | 346 | 0.1185 | 0 | c.308 others(6): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 17/36 | chr9 | TogoVar | ||||||
| FREM1_chr9_14732152_14915428 | 14842660 | C | G | missense_variant others(1): Show |
MODERATE | HG02027.hp1 HG02145.hp1 HG02165.hp2 others(7): Show |
a0019a0034a0072others(3): Show | a0019c0044a0019c0110a0019c0155others(5): Show | a0019c0044t0001a0019c0110t0001a0019c0155t0001others(6): Show | a0019c0044t0001g0041a0019c0044t0001g0269a0019c0110t0001g0114others(7): Show | 10 | 346 | 0.0289 | 0 | c.139 others(4): Show |
p.Gly others(6): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 9/37 | 2176/7566 | 1394/6540 | 465/2179 | chr9 | TogoVar | ||
| FREM1_chr9_14732152_14915428 | 14868745 | T | G | missense_variant others(1): Show |
MODERATE | HG03942.hp2 | a0044 | a0044c0229 | a0044c0229t0001 | a0044c0229t0001g0164 | 1 | 346 | 0.0029 | 0 | c.233 others(3): Show |
p.Gln others(5): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 2/37 | 1015/7566 | 233/6540 | 78/2179 | chr9 | TogoVar | ||
| FREM2_chr13_38682077_38892131 | 38851875 | G | T | splice_region_variant others(1): Show |
LOW | HG02083.hp1 HG02135.hp2 NA18747.hp1 others(16): Show |
a0001a0003a0004others(2): Show | a0001c0002a0001c0068a0003c0003others(3): Show | a0001c0002t0001a0001c0002t0005a0001c0068t0005others(7): Show | a0001c0002t0001g0156a0001c0002t0001g0162a0001c0002t0005g0140others(16): Show | 19 | 262 | 0.0725 | 0 | c.692 others(6): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 11/23 | chr13 | TogoVar | ||||||
| FREM2_chr13_38682077_38892131 | 38861415 | C | CT | splice_region_variant others(1): Show |
LOW | HG00738.hp1 HG01361.hp1 HG01516.hp1 others(6): Show |
a0001a0002a0017others(4): Show | a0001c0033a0002c0092a0017c0034others(4): Show | a0001c0033t0010a0002c0092t0046a0017c0034t0010others(4): Show | a0001c0033t0010g0136a0001c0033t0010g0204a0002c0092t0046g0036others(6): Show | 9 | 262 | 0.0344 | 1 | c.752 others(7): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FREM2_chr13_38682077_38892131 | 38861415 | C | CTT | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG01884.hp1 HG02109.hp1 others(6): Show |
a0010a0014a0022others(6): Show | a0010c0013a0014c0022a0022c0043others(6): Show | a0010c0013t0003a0014c0022t0014a0022c0043t0012others(6): Show | a0010c0013t0003g0107a0014c0022t0014g0193a0022c0043t0012g0234others(6): Show | 9 | 262 | 0.0344 | 2 | c.752 others(15): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FREM2_chr13_38682077_38892131 | 38876152 | A | C | splice_region_variant others(1): Show |
LOW | HG03579.hp2 | a0055 | a0055c0071 | a0055c0071t0031 | a0055c0071t0031g0109 | 1 | 262 | 0.0038 | 0 | c.840 others(6): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 19/23 | chr13 | TogoVar | ||||||
| FREM2_chr13_38682077_38892131 | 38878127 | A | G | splice_region_variant others(1): Show |
LOW | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0140 | 1 | 262 | 0.0038 | 0 | c.867 others(6): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 21/23 | chr13 | TogoVar | ||||||
| FREM3_chr4_143572302_143705675 | 143577859 | A | G | splice_region_variant others(1): Show |
LOW | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 260 | 0.0039 | 0 | c.617 others(6): Show |
FREM3 | ENSG00000183090.5 | transcript | ENST00000329798.5 | protein_coding | 7/7 | chr4 | TogoVar | ||||||
| FRG2C_chr3_75659328_75672173 | 75664563 | G | A | splice_region_variant others(1): Show |
LOW | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 410 | 0.0024 | 0 | c.178 others(5): Show |
FRG2C | ENSG00000172969.8 | transcript | ENST00000308062.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
| FRG2C_chr3_75659328_75672173 | 75664812 | C | T | splice_region_variant others(1): Show |
LOW | NA18522.hp2 | a0009 | a0009c0008 | a0009c0008t0016 | a0009c0008t0016g0017 | 1 | 410 | 0.0024 | 0 | c.179 others(5): Show |
FRG2C | ENSG00000172969.8 | transcript | ENST00000308062.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
| FRK_chr6_115926149_116065891 | 115943191 | C | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(53): Show | a0001c0001t0001g0102a0001c0001t0001g0104a0001c0001t0001g0105others(197): Show | 201 | 274 | 0.7336 | 0 | c.114 others(6): Show |
FRK | ENSG00000111816.8 | transcript | ENST00000606080.2 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
| FRK_chr6_115926149_116065891 | 115956444 | T | C | splice_region_variant others(1): Show |
LOW | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0054 | a0002c0002t0054g0023 | 1 | 274 | 0.0037 | 0 | c.958 others(5): Show |
FRK | ENSG00000111816.8 | transcript | ENST00000606080.2 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
| FRK_chr6_115926149_116065891 | 116003871 | C | T | splice_region_variant others(1): Show |
LOW | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0205 | 1 | 274 | 0.0037 | 0 | c.466 others(5): Show |
FRK | ENSG00000111816.8 | transcript | ENST00000606080.2 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
| FRMD1_chr6_168048095_168084212 | 168066836 | T | C | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG02080.hp1 HG02129.hp2 others(3): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0010a0001c0005t0005 | a0001c0004t0010g0022a0001c0005t0005g0066a0001c0005t0005g0069others(1): Show | 6 | 402 | 0.0149 | 0 | c.385 others(5): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 3/10 | chr6 | TogoVar | ||||||
| FRMD1_chr6_168048095_168084212 | 168078882 | C | T | splice_region_variant others(1): Show |
LOW | HG01433.hp1 HG03471.hp2 HG03927.hp2 others(25): Show |
a0001 | a0001c0005 | a0001c0005t0005a0001c0005t0015a0001c0005t0028others(1): Show | a0001c0005t0005g0017a0001c0005t0005g0018a0001c0005t0005g0028others(19): Show | 28 | 402 | 0.0697 | 0 | c.213 others(3): Show |
p.Gly others(5): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 1/11 | 331/5770 | 213/1650 | 71/549 | chr6 | TogoVar | ||
| FRMD3_chr9_83239622_83543401 | 83299186 | C | T | splice_region_variant others(1): Show |
LOW | HG03927.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0232 | 1 | 242 | 0.0041 | 0 | c.927 others(3): Show |
p.Lys others(6): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 11/14 | 1097/5260 | 927/1794 | 309/597 | chr9 | TogoVar | ||
| FRMD3_chr9_83239622_83543401 | 83311978 | GA | G | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00423.hp1 HG01071.hp2 others(67): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0108a0001c0001t0001g0119a0001c0001t0001g0136others(67): Show | 70 | 242 | 0.2893 | -1 | c.685 others(6): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 7/13 | chr9 | TogoVar | ||||||
| FRMD4A_chr10_13638706_14335924 | 13761674 | A | G | splice_region_variant others(1): Show |
LOW | NA18522.hp2 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0053 | 1 | 134 | 0.0075 | 0 | c.442 others(5): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 7/24 | chr10 | TogoVar | ||||||
| FRMD4B_chr3_69163782_69391088 | 69249250 | TA | T | splice_region_variant others(1): Show |
LOW | HG00735.hp2 HG01243.hp2 HG02109.hp2 others(6): Show |
a0002a0004a0008others(1): Show | a0002c0002a0004c0004a0004c0006others(2): Show | a0002c0002t0002a0002c0002t0013a0002c0002t0027others(6): Show | a0002c0002t0002g0153a0002c0002t0013g0039a0002c0002t0027g0135others(6): Show | 9 | 224 | 0.0402 | -1 | c.559 others(6): Show |
FRMD4B | ENSG00000114541.15 | transcript | ENST00000398540.8 | protein_coding | 6/22 | chr3 | TogoVar | ||||||
| FRMD6_chr14_51646910_51735727 | 51720050 | C | T | splice_region_variant others(1): Show |
LOW | NA19079.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0267 | 1 | 390 | 0.0026 | 0 | c.102 others(6): Show |
FRMD6 | ENSG00000139926.16 | transcript | ENST00000344768.10 | protein_coding | 10/13 | chr14 | TogoVar | ||||||
| FRMD7_chrX_132071990_132133020 | 132076992 | G | A | splice_region_variant | LOW | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026 | 1 | 209 | 0.0048 | 0 | c.*88 others(4): Show |
FRMD7 | ENSG00000165694.11 | transcript | ENST00000298542.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| FRMD8_chr11_65381637_65418525 | 65389527 | G | A | splice_region_variant others(1): Show |
LOW | HG02004.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0173 | 1 | 366 | 0.0027 | 0 | c.252 others(3): Show |
p.Leu others(5): Show |
FRMD8 | ENSG00000126391.14 | transcript | ENST00000317568.10 | protein_coding | 3/11 | 377/3685 | 252/1395 | 84/464 | chr11 | TogoVar | ||
| FRMPD1_chr9_37645954_37751904 | 37733830 | G | GT | splice_region_variant others(1): Show |
LOW | HG02717.hp1 HG02976.hp1 HG03540.hp2 others(3): Show |
a0001a0002a0026 | a0001c0003a0002c0007a0026c0044 | a0001c0003t0001a0002c0007t0003a0026c0044t0001 | a0001c0003t0001g0025a0001c0003t0001g0278a0001c0003t0001g0316others(3): Show | 6 | 334 | 0.0180 | 1 | c.121 others(7): Show |
FRMPD1 | ENSG00000070601.10 | transcript | ENST00000377765.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| FRMPD1_chr9_37645954_37751904 | 37735739 | C | G | splice_region_variant others(1): Show |
LOW | HG02922.hp2 | a0028 | a0028c0039 | a0028c0039t0001 | a0028c0039t0001g0134 | 1 | 334 | 0.0030 | 0 | c.140 others(6): Show |
FRMPD1 | ENSG00000070601.10 | transcript | ENST00000377765.8 | protein_coding | 13/15 | chr9 | TogoVar | ||||||
| FRMPD2_chr10_48151562_48279696 | 48168696 | G | T | splice_region_variant others(1): Show |
LOW | HG03130.hp2 | a0005 | a0005c0042 | a0005c0042t0001 | a0005c0042t0001g0059 | 1 | 250 | 0.0040 | 0 | c.343 others(6): Show |
FRMPD2 | ENSG00000170324.21 | transcript | ENST00000374201.8 | protein_coding | 26/28 | chr10 | TogoVar | ||||||
| FRMPD2_chr10_48151562_48279696 | 48168700 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(135): Show |
a0001a0002a0003others(13): Show | a0001c0013a0002c0002a0002c0035others(30): Show | a0001c0013t0001a0002c0002t0001a0002c0002t0003others(33): Show | a0001c0013t0001g0058a0002c0002t0001g0003a0002c0002t0001g0014others(134): Show | 138 | 250 | 0.5520 | 0 | c.343 others(6): Show |
FRMPD2 | ENSG00000170324.21 | transcript | ENST00000374201.8 | protein_coding | 26/28 | chr10 | TogoVar | ||||||
| FRMPD2_chr10_48151562_48279696 | 48170988 | C | T | splice_region_variant others(1): Show |
LOW | HG02080.hp2 HG02723.hp1 |
a0002a0008 | a0002c0002a0008c0041 | a0002c0002t0001a0008c0041t0001 | a0002c0002t0001g0213a0008c0041t0001g0101 | 2 | 250 | 0.0080 | 0 | c.343 others(6): Show |
FRMPD2 | ENSG00000170324.21 | transcript | ENST00000374201.8 | protein_coding | 26/28 | chr10 | TogoVar | ||||||
| FRMPD2_chr10_48151562_48279696 | 48171207 | A | G | splice_region_variant others(1): Show |
LOW | HG02165.hp2 | a0006 | a0006c0039 | a0006c0039t0001 | a0006c0039t0001g0073 | 1 | 250 | 0.0040 | 0 | c.322 others(4): Show |
p.Gly others(7): Show |
FRMPD2 | ENSG00000170324.21 | transcript | ENST00000374201.8 | protein_coding | 26/29 | 3354/4819 | 3225/3930 | 1075/1309 | chr10 | TogoVar | ||
| FRMPD2_chr10_48151562_48279696 | 48184686 | G | A | splice_region_variant others(1): Show |
LOW | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0166 | 1 | 250 | 0.0040 | 0 | c.246 others(6): Show |
FRMPD2 | ENSG00000170324.21 | transcript | ENST00000374201.8 | protein_coding | 19/28 | chr10 | TogoVar | ||||||
| FRMPD2_chr10_48151562_48279696 | 48187297 | C | A | splice_region_variant others(1): Show |
LOW | HG03486.hp2 | a0013 | a0013c0037 | a0013c0037t0001 | a0013c0037t0001g0245 | 1 | 250 | 0.0040 | 0 | c.216 others(6): Show |
FRMPD2 | ENSG00000170324.21 | transcript | ENST00000374201.8 | protein_coding | 16/28 | chr10 | TogoVar | ||||||
| FRMPD2_chr10_48151562_48279696 | 48240352 | G | A | splice_region_variant others(1): Show |
LOW | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 250 | 0.0040 | 0 | c.700 others(5): Show |
FRMPD2 | ENSG00000170324.21 | transcript | ENST00000374201.8 | protein_coding | 6/28 | chr10 | TogoVar | ||||||
| FRMPD2_chr10_48151562_48279696 | 48249185 | C | T | splice_region_variant others(1): Show |
LOW | HG02293.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0199 | 1 | 250 | 0.0040 | 0 | c.152 others(5): Show |
FRMPD2 | ENSG00000170324.21 | transcript | ENST00000374201.8 | protein_coding | 2/28 | chr10 | TogoVar | ||||||
| FRMPD2_chr10_48151562_48279696 | 48251556 | ACT | A | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG02165.hp2 HG02486.hp2 others(14): Show |
a0001a0004a0005others(4): Show | a0001c0013a0004c0040a0005c0042others(4): Show | a0001c0013t0001a0001c0013t0002a0004c0040t0001others(5): Show | a0001c0013t0001g0058a0001c0013t0002g0066a0001c0013t0002g0067others(14): Show | 17 | 250 | 0.0680 | -2 | c.151 others(13): Show |
FRMPD2 | ENSG00000170324.21 | transcript | ENST00000374201.8 | protein_coding | 2/28 | chr10 | TogoVar | ||||||
| FRMPD2_chr10_48151562_48279696 | 48251567 | G | A | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG02165.hp2 HG02486.hp2 others(14): Show |
a0001a0004a0005others(4): Show | a0001c0013a0004c0040a0005c0042others(4): Show | a0001c0013t0001a0001c0013t0002a0004c0040t0001others(5): Show | a0001c0013t0001g0058a0001c0013t0002g0066a0001c0013t0002g0067others(14): Show | 17 | 250 | 0.0680 | 0 | c.150 others(3): Show |
p.Asn others(5): Show |
FRMPD2 | ENSG00000170324.21 | transcript | ENST00000374201.8 | protein_coding | 2/29 | 279/4819 | 150/3930 | 50/1309 | chr10 | TogoVar | ||
| FRMPD3_chrX_107444652_107610251 | 107564885 | AG | A | frameshift_variant others(1): Show |
HIGH | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 183 | 0.0055 | -1 | c.111 others(5): Show |
p.Asp others(5): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 12/15 | 1478/7573 | 1117/5334 | 373/1777 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| FRRS1_chr1_99698970_99771635 | 99712099 | T | C | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02486.hp2 |
a0001 | a0001c0002 | a0001c0002t0085a0001c0002t0105 | a0001c0002t0085g0278a0001c0002t0105g0022 | 2 | 318 | 0.0063 | 0 | c.148 others(6): Show |
FRRS1 | ENSG00000156869.14 | transcript | ENST00000646001.2 | protein_coding | 14/16 | chr1 | TogoVar |