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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA6L2_chr15_23434038_23452243 | 23441436 | CCTGCTCC others(11): Show |
C | conservative_inframe_deletion | MODERATE | HG01109.hp1 | a0018 | a0018c0057 | a0018c0057t0001 | a0018c0057t0001g0095 | 1 | 393 | 0.0025 | -18 | c.102 others(27): Show |
p.Lys others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 1100/3499 | 1021/2730 | 341/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23441523 | TCCGCATC others(14): Show |
T | conservative_inframe_deletion | MODERATE | HG02258.hp2 HG02615.hp1 HG02717.hp2 others(15): Show |
a0005a0012 | a0005c0006a0005c0008a0005c0031others(1): Show | a0005c0006t0007a0005c0006t0013a0005c0006t0021others(6): Show | a0005c0006t0007g0017 a0005c0006t0013g0039 a0005c0006t0021g0116 others(8): Show |
18 | 394 | 0.0457 | -21 | c.931 others(28): Show |
p.Glu others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 1013/3499 | 931/2730 | 311/909 | chr15 | TogoVar | |||
GOLGA6L4_chr15_84230773_84250358 | 84240303 | GAGAAGCT others(8): Show |
G | conservative_inframe_deletion | MODERATE | HG03927.hp1 | a0035 | a0035c0059 | a0035c0059t0001 | a0035c0059t0001g0069 | 1 | 250 | 0.0040 | -15 | c.952 others(22): Show |
p.Lys others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1014/4553 | 952/1725 | 318/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240664 | AGGAGCTG others(11): Show |
A | conservative_inframe_deletion | MODERATE | HG00558.hp1 HG00621.hp2 NA18952.hp1 others(3): Show |
a0001a0020 | a0001c0001a0001c0008a0020c0047 | a0001c0001t0001a0001c0008t0029a0020c0047t0001 | a0001c0001t0001g0016 a0001c0001t0001g0100 a0001c0008t0029g0079 others(1): Show |
6 | 250 | 0.0240 | -18 | c.134 others(27): Show |
p.Leu others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1404/4553 | 1342/1725 | 448/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20534699 | CCTCCTG | C | conservative_inframe_deletion | MODERATE | HG00558.hp1 HG00609.hp2 HG00733.hp1 others(38): Show |
a0003a0004a0008others(2): Show | a0003c0003a0004c0004a0004c0049others(4): Show | a0003c0003t0003a0003c0003t0010a0004c0004t0003others(6): Show | a0003c0003t0003g0004 a0003c0003t0003g0007 a0003c0003t0003g0019 others(16): Show |
41 | 212 | 0.1934 | -6 | c.172 others(15): Show |
p.Gln others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1825/4013 | 1729/2175 | 577/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20535333 | TATCTTCT others(35): Show |
C | conservative_inframe_deletion | MODERATE | HG01071.hp2 HG01255.hp1 HG01257.hp2 others(8): Show |
a0010a0011a0019others(1): Show | a0010c0014a0010c0015a0011c0012others(3): Show | a0010c0014t0007a0010c0015t0009a0011c0012t0007others(3): Show | a0010c0014t0007g0013 a0010c0015t0009g0037 a0010c0015t0009g0038 others(4): Show |
11 | 111 | 0.0991 | -42 | c.106 others(51): Show |
p.Arg others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1192/4013 | 1060/2175 | 354/724 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28842669 | CCATCTGC others(14): Show |
C | conservative_inframe_deletion | MODERATE | NA20905.hp2 | a0026 | a0026c0024 | a0026c0024t0002 | a0026c0024t0002g0069 | 1 | 420 | 0.0024 | -21 | c.141 others(30): Show |
p.Arg others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1529/2367 | 1414/1869 | 472/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28842750 | CCCCCATC others(14): Show |
C | conservative_inframe_deletion | MODERATE | HG02109.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
a0014a0016a0021others(1): Show | a0014c0015a0016c0034a0016c0035others(2): Show | a0014c0015t0002a0016c0034t0002a0016c0035t0002others(2): Show | a0014c0015t0002g0057 a0014c0015t0002g0058 a0016c0034t0002g0084 others(3): Show |
6 | 420 | 0.0143 | -21 | c.133 others(30): Show |
p.Lys others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1448/2367 | 1333/1869 | 445/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28842795 | CCATCTGC others(278): Show |
C | conservative_inframe_deletion | MODERATE | HG01168.hp1 | a0017 | a0017c0042 | a0017c0042t0001 | a0017c0042t0001g0106 | 1 | 394 | 0.0025 | -285 | c.102 others(9): Show |
p.Arg others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1403/2367 | 1024/1869 | 342/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28842807 | CCTGCTTC others(47): Show |
C | conservative_inframe_deletion | MODERATE | HG01981.hp1 HG02027.hp2 HG02055.hp1 others(23): Show |
a0004a0020 | a0004c0004a0004c0005a0004c0029others(1): Show | a0004c0004t0002a0004c0004t0006a0004c0005t0002others(2): Show | a0004c0004t0002g0005 a0004c0004t0002g0065 a0004c0004t0006g0076 others(4): Show |
26 | 420 | 0.0619 | -54 | c.124 others(63): Show |
p.Met others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1391/2367 | 1243/1869 | 415/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28842819 | TCTGCTCC others(98): Show |
T | conservative_inframe_deletion | MODERATE | HG02647.hp2 HG02717.hp1 HG03471.hp1 |
a0011 | a0011c0013 | a0011c0013t0002 | a0011c0013t0002g0031 a0011c0013t0002g0080 |
3 | 420 | 0.0071 | -105 | c.118 others(9): Show |
p.Glu others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1379/2367 | 1180/1869 | 394/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28842855 | TCCTCATC others(5): Show |
T | conservative_inframe_deletion | MODERATE | HG02109.hp1 HG02486.hp2 HG02622.hp1 others(4): Show |
a0014a0016a0021others(2): Show | a0014c0015a0016c0034a0016c0035others(3): Show | a0014c0015t0002a0016c0034t0002a0016c0035t0002others(3): Show | a0014c0015t0002g0057 a0014c0015t0002g0058 a0016c0034t0002g0084 others(4): Show |
7 | 420 | 0.0167 | -12 | c.123 others(21): Show |
p.Glu others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1343/2367 | 1237/1869 | 413/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28842915 | TCTGCTCC others(2): Show |
T | conservative_inframe_deletion | MODERATE | HG02109.hp1 HG02486.hp2 HG02622.hp1 others(4): Show |
a0014a0016a0021others(2): Show | a0014c0015a0016c0034a0016c0035others(3): Show | a0014c0015t0002a0016c0034t0002a0016c0035t0002others(3): Show | a0014c0015t0002g0057 a0014c0015t0002g0058 a0016c0034t0002g0084 others(4): Show |
7 | 420 | 0.0167 | -9 | c.118 others(18): Show |
p.Glu others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1283/2367 | 1180/1869 | 394/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28842975 | GCATCTGC others(35): Show |
G | conservative_inframe_deletion | MODERATE | NA19060.hp2 | a0025 | a0025c0023 | a0025c0023t0002 | a0025c0023t0002g0067 | 1 | 412 | 0.0024 | -42 | c.108 others(51): Show |
p.Trp others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1223/2367 | 1087/1869 | 363/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28842975 | GCATCTGC others(140): Show |
G | conservative_inframe_deletion | MODERATE | HG02145.hp1 HG02145.hp2 HG02257.hp2 others(5): Show |
a0009a0010a0022 | a0009c0010a0010c0016a0010c0028others(1): Show | a0009c0010t0002a0010c0016t0002a0010c0028t0002others(1): Show | a0009c0010t0002g0017 a0010c0016t0002g0047 a0010c0016t0002g0070 others(2): Show |
8 | 419 | 0.0191 | -147 | c.982 others(8): Show |
p.Gly others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1223/2367 | 982/1869 | 328/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28843098 | CCCCCATC others(14): Show |
C | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(112): Show |
a0001a0002a0003others(6): Show | a0001c0008a0002c0002a0002c0025others(10): Show | a0001c0008t0001a0001c0008t0003a0002c0002t0001others(22): Show | a0001c0008t0001g0039 a0001c0008t0003g0027 a0001c0008t0003g0101 others(40): Show |
115 | 419 | 0.2745 | -21 | c.985 others(29): Show |
p.Lys others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1100/2367 | 985/1869 | 329/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28843101 | CCATCTGC others(35): Show |
C | conservative_inframe_deletion | MODERATE | HG01496.hp1 HG01981.hp1 HG02027.hp2 others(40): Show |
a0003a0004a0005others(5): Show | a0003c0003a0004c0004a0004c0005others(7): Show | a0003c0003t0002a0004c0004t0002a0004c0004t0006others(9): Show | a0003c0003t0002g0024 a0003c0003t0002g0073 a0004c0004t0002g0005 others(15): Show |
43 | 418 | 0.1029 | -42 | c.961 others(50): Show |
p.Arg others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1097/2367 | 961/1869 | 321/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28843101 | CCATCTGC others(56): Show |
C | conservative_inframe_deletion | MODERATE | HG02258.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0008 | 1 | 376 | 0.0027 | -63 | c.940 others(71): Show |
p.Arg others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1097/2367 | 940/1869 | 314/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28843122 | CCATCTGC others(14): Show |
C | conservative_inframe_deletion | MODERATE | HG00735.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 410 | 0.0049 | -21 | c.961 others(28): Show |
p.Arg others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1076/2367 | 961/1869 | 321/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28843359 | TCTCCTGA others(11): Show |
T | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(416): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0008a0001c0040others(39): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(113): Show |
419 | 420 | 0.9976 | -18 | c.727 others(25): Show |
p.Glu others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 839/2367 | 727/1869 | 243/622 | chr15 | TogoVar | |||
GOLGA8N_chr15_32588456_32612237 | 32598157 | GAGA | G | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG01516.hp2 HG06807.hp2 |
a0015 | a0015c0022a0015c0039 | a0015c0022t0013a0015c0039t0013 | a0015c0022t0013g0015 a0015c0039t0013g0015 |
3 | 286 | 0.0105 | -3 | c.580 others(10): Show |
p.Lys others(6): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 8/19 | 678/5256 | 580/1899 | 194/632 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA8N_chr15_32588456_32612237 | 32599749 | GCAA | G | conservative_inframe_deletion | MODERATE | HG02258.hp2 HG02970.hp1 NA19030.hp2 |
a0023a0053 | a0023c0030a0053c0038 | a0023c0030t0016a0053c0038t0044 | a0023c0030t0016g0098 a0023c0030t0016g0102 a0053c0038t0044g0056 |
3 | 286 | 0.0105 | -3 | c.814 others(10): Show |
p.Gln others(6): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 11/19 | 912/5256 | 814/1899 | 272/632 | chr15 | TogoVar | |||
GOLGA8Q_chr15_30547050_30570684 | 30558273 | GCAA | G | conservative_inframe_deletion | MODERATE | HG01175.hp1 HG01243.hp2 HG01358.hp2 others(23): Show |
a0002a0012 | a0002c0002a0002c0004a0002c0008others(5): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0005others(11): Show | a0002c0002t0002g0014 a0002c0002t0002g0026 a0002c0002t0003g0060 others(21): Show |
26 | 126 | 0.2063 | -3 | c.814 others(10): Show |
p.Gln others(6): Show |
GOLGA8Q | ENSG00000178115.12 | transcript | ENST00000562783.2 | protein_coding | 11/19 | 842/5110 | 814/1899 | 272/632 | chr15 | TogoVar | |||
GOLGA8S_chr15_23349748_23373341 | 23360743 | AAGG | A | conservative_inframe_deletion | MODERATE | HG01074.hp2 HG01081.hp1 HG01361.hp2 others(3): Show |
a0012a0048 | a0012c0010a0048c0051 | a0012c0010t0001a0048c0051t0006 | a0012c0010t0001g0058 a0012c0010t0001g0218 a0012c0010t0001g0265 others(2): Show |
6 | 428 | 0.0140 | -3 | c.844 others(10): Show |
p.Glu others(6): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 11/19 | 906/5186 | 844/1917 | 282/638 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GP1BA_chr17_4927277_4940023 | 4933822 | AAGCCCGA others(71): Show |
A | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00423.hp1 HG00673.hp2 others(73): Show |
a0002a0004a0008 | a0002c0002a0004c0006a0008c0009 | a0002c0002t0001a0002c0002t0003a0004c0006t0003others(1): Show | a0002c0002t0001g0001 a0002c0002t0003g0001 a0004c0006t0003g0001 others(1): Show |
76 | 419 | 0.1814 | -78 | c.128 others(87): Show |
p.Ser others(13): Show |
GP1BA | ENSG00000185245.9 | transcript | ENST00000329125.6 | protein_coding | 2/2 | 1377/2514 | 1282/1959 | 428/652 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
GPC2_chr7_100164606_100182381 | 100175619 | CATCGGTA others(17): Show |
C | conservative_inframe_deletion | MODERATE | NA19059.hp2 | a0007 | a0007c0006 | a0007c0006t0002 | a0007c0006t0002g0031 | 1 | 398 | 0.0025 | -24 | c.577 others(31): Show |
p.Ser others(13): Show |
GPC2 | ENSG00000213420.8 | transcript | ENST00000292377.4 | protein_coding | 3/10 | 782/2546 | 577/1740 | 193/579 | chr7 | TogoVar | |||
GPR179_chr17_38319571_38348956 | 38330877 | GGGCCCCT others(20): Show |
G | conservative_inframe_deletion | MODERATE | NA18978.hp2 | a0040 | a0040c0048 | a0040c0048t0001 | a0040c0048t0001g0101 | 1 | 338 | 0.0030 | -27 | c.266 others(36): Show |
p.Arg others(13): Show |
GPR179 | ENSG00000277399.6 | transcript | ENST00000616987.5 | protein_coding | 11/11 | 2858/9165 | 2665/7104 | 889/2367 | chr17 | TogoVar | |||
GPR50_chrX_151171584_151186465 | 151180856 | TCCAAGCC others(14): Show |
T | conservative_inframe_deletion | MODERATE | NA18968.hp1 NA18999.hp1 NA19063.hp1 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0008 | 3 | 354 | 0.0085 | -21 | c.127 others(30): Show |
p.Pro others(13): Show |
GPR50 | ENSG00000102195.10 | transcript | ENST00000218316.4 | protein_coding | 2/2 | 1417/2020 | 1279/1854 | 427/617 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GPRASP2_chrX_102707448_102722733 | 102715243 | AGGCCCAG others(5): Show |
A | conservative_inframe_deletion | MODERATE | HG02976.hp2 HG03471.hp1 NA18906.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 3 | 291 | 0.0103 | -12 | c.382 others(19): Show |
p.Ala others(13): Show |
GPRASP2 | ENSG00000158301.20 | transcript | ENST00000483720.7 | protein_coding | 5/5 | 1054/3536 | 382/2517 | 128/838 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GPSM1_chr9_136322539_136364601 | 136356540 | TCAAGTAC others(15): Show |
T | splice_donor_variant others(3): Show |
HIGH | NA18942.hp1 | a0013 | a0013c0021 | a0013c0021t0004 | a0013c0021t0004g0238 | 1 | 398 | 0.0025 | -22 | c.181 others(34): Show |
p.Lys others(13): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 13/14 | 1970/3566 | 1813/2028 | 605/675 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
GREB1L_chr18_21237232_21531112 | 21452083 | GCGATGAC others(5): Show |
G | conservative_inframe_deletion others(1): Show |
MODERATE | HG01167.hp2 HG01169.hp2 NA18906.hp2 |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0052 a0003c0004t0006g0053 a0003c0004t0006g0054 |
3 | 146 | 0.0205 | -12 | c.185 others(21): Show |
p.Asp others(13): Show |
GREB1L | ENSG00000141449.16 | transcript | ENST00000424526.7 | protein_coding | 14/33 | 2133/9344 | 1852/5772 | 618/1923 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||
GRIN2D_chr19_48388668_48449931 | 48443623 | CCGCACCG others(11): Show |
C | conservative_inframe_deletion | MODERATE | NA19065.hp2 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0016 | 1 | 364 | 0.0027 | -18 | c.370 others(27): Show |
p.Pro others(15): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 14/14 | 4212/5511 | 3706/4011 | 1236/1336 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
GRIN3B_chr19_995419_1014732 | 1009186 | GAGC | G | conservative_inframe_deletion | MODERATE | HG00408.hp1 HG00423.hp2 HG00597.hp1 others(60): Show |
a0002a0014a0029others(10): Show | a0002c0003a0002c0021a0002c0052others(16): Show | a0002c0003t0001a0002c0021t0001a0002c0052t0001others(16): Show | a0002c0003t0001g0002 a0002c0003t0001g0035 a0002c0003t0001g0036 others(37): Show |
63 | 443 | 0.1422 | -3 | c.273 others(12): Show |
p.Gln others(6): Show |
GRIN3B | ENSG00000116032.5 | transcript | ENST00000234389.3 | protein_coding | 9/9 | 2753/3281 | 2734/3132 | 912/1043 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
GRM6_chr5_178973327_179000320 | 178994872 | CCGCCTGC others(8): Show |
C | conservative_inframe_deletion | MODERATE | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0240 | 1 | 466 | 0.0021 | -15 | c.58_ others(20): Show |
p.Trp others(11): Show |
GRM6 | ENSG00000113262.16 | transcript | ENST00000517717.3 | protein_coding | 2/11 | 133/6025 | 58/2634 | 20/877 | chr5 | TogoVar | |||
GSE1_chr16_85608322_85681200 | 85656394 | CGAGCGT | C | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00738.hp2 HG01109.hp2 others(15): Show |
a0001a0007a0018others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0006t0001others(7): Show | a0001c0001t0002g0045 a0001c0001t0002g0103 a0001c0002t0001g0041 others(15): Show |
18 | 288 | 0.0625 | -6 | c.105 others(15): Show |
p.Arg others(13): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 7/16 | 1121/7385 | 1051/3654 | 351/1217 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
GUCA2B_chr1_42148410_42160820 | 42154699 | AGCTGGAA others(5): Show |
A | conservative_inframe_deletion | MODERATE | NA18960.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0014 | 1 | 440 | 0.0023 | -12 | c.112 others(19): Show |
p.Leu others(11): Show |
GUCA2B | ENSG00000044012.4 | transcript | ENST00000372581.2 | protein_coding | 2/3 | 153/604 | 112/339 | 38/112 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
GXYLT1_chr12_42076845_42149874 | 42144454 | GGCCCGCG others(32): Show |
G | conservative_inframe_deletion | MODERATE | HG02015.hp2 HG02809.hp2 NA19062.hp2 |
a0002 | a0002c0004 | a0002c0004t0002a0002c0004t0051 | a0002c0004t0002g0009 a0002c0004t0051g0329 |
3 | 396 | 0.0076 | -39 | c.154 others(46): Show |
p.Gly others(11): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 1/8 | 420/7492 | 154/1323 | 52/440 | chr12 | TogoVar | |||
GYPC_chr2_126651158_126701667 | 126690214 | GTCTTCCT others(3602): Show |
G | conservative_inframe_deletion | MODERATE | HG01257.hp2 HG01258.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0026 | 2 | 414 | 0.0048 | -3609 | c.60_ others(6): Show |
p.Pro others(11): Show |
GYPC | ENSG00000136732.16 | transcript | ENST00000259254.9 | protein_coding | 3/4 | 166/1018 | 60/387 | 20/128 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
H1-6_chr6_26102412_26113135 | 26107487 | CCTTTCTA others(107): Show |
C | conservative_inframe_deletion | MODERATE | HG02976.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0000 | 1 | 406 | 0.0025 | -114 | c.493 others(7): Show |
p.Arg others(13): Show |
H1-6 | ENSG00000187475.6 | transcript | ENST00000338379.6 | protein_coding | 1/1 | 648/724 | 493/624 | 165/207 | chr6 | TogoVar | |||
H2AL3_chrX_37989272_37999904 | 37994691 | AGAG | A | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(46): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0000 a0002c0006t0001g0000 |
49 | 329 | 0.1489 | -3 | c.364 others(10): Show |
p.Glu others(6): Show |
H2AL3 | ENSG00000229674.3 | transcript | ENST00000448797.3 | protein_coding | 1/1 | 436/633 | 364/447 | 122/148 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
HDAC10_chr22_50240183_50256265 | 50249430 | GCGGTGCC others(58): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | NA19072.hp2 | a0016 | a0016c0025 | a0016c0025t0002 | a0016c0025t0002g0044 | 1 | 446 | 0.0022 | -65 | c.564 others(75): Show |
p.Val others(13): Show |
HDAC10 | ENSG00000100429.18 | transcript | ENST00000216271.10 | protein_coding | 7/20 | 820/2567 | 564/2010 | 188/669 | chr22 | TogoVar | |||
HEATR4_chr14_73473484_73563947 | 73522300 | GCTT | G | conservative_inframe_deletion | MODERATE | HG02922.hp2 HG03579.hp1 NA19079.hp1 |
a0011a0017 | a0011c0016a0017c0019 | a0011c0016t0004a0017c0019t0004 | a0011c0016t0004g0148 a0011c0016t0004g0343 a0017c0019t0004g0246 |
3 | 366 | 0.0082 | -3 | c.850 others(10): Show |
p.Lys others(6): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 3/18 | 1200/3551 | 850/3081 | 284/1026 | chr14 | TogoVar | |||
HES5_chr1_2523745_2535263 | 2529579 | TGGCGGGC others(2): Show |
T | conservative_inframe_deletion | MODERATE | NA18944.hp2 NA18955.hp1 NA18960.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 5 | 426 | 0.0117 | -9 | c.382 others(16): Show |
p.Ala others(13): Show |
HES5 | ENSG00000197921.6 | transcript | ENST00000378453.4 | protein_coding | 3/3 | 489/1324 | 382/501 | 128/166 | chr1 | TogoVar | |||
HIC1_chr17_2050103_2068241 | 2057110 | GGGCGGCG others(5): Show |
G | conservative_inframe_deletion | MODERATE | NA18522.hp2 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0001 | 1 | 411 | 0.0024 | -12 | c.433 others(19): Show |
p.Gly others(13): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 2/2 | 589/6707 | 433/2145 | 145/714 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
HIP1R_chr12_122830457_122867961 | 122856099 | GGCCCAGC others(8): Show |
G | conservative_inframe_deletion | MODERATE | HG02040.hp2 | a0014 | a0014c0030 | a0014c0030t0001 | a0014c0030t0001g0004 | 1 | 346 | 0.0029 | -15 | c.125 others(24): Show |
p.Arg others(13): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 14/32 | 1352/4509 | 1258/3207 | 420/1068 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
HNRNPA0_chr5_137740651_137759363 | 137753376 | AGCCGCCG others(5): Show |
A | conservative_inframe_deletion | MODERATE | HG04184.hp2 | a0003 | a0003c0006 | a0003c0006t0060 | a0003c0006t0060g0000 | 1 | 366 | 0.0027 | -12 | c.679 others(19): Show |
p.Gly others(13): Show |
HNRNPA0 | ENSG00000177733.7 | transcript | ENST00000314940.7 | protein_coding | 1/1 | 987/8713 | 679/918 | 227/305 | chr5 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152214266 | CGGAGCCA others(2813): Show |
C | conservative_inframe_deletion | MODERATE | HG01433.hp2 HG01884.hp1 HG02109.hp1 others(5): Show |
a0004a0006a0011 | a0004c0012a0006c0029a0011c0049 | a0004c0012t0004a0006c0029t0004a0011c0049t0004 | a0004c0012t0004g0017 a0004c0012t0004g0147 a0006c0029t0004g0043 others(1): Show |
8 | 411 | 0.0195 | -2820 | c.454 others(9): Show |
p.Ser others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7438/9629 | 4543/8553 | 1515/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215169 | CTGAGCTA others(1403): Show |
C | conservative_inframe_deletion | MODERATE | HG02145.hp1 | a0007 | a0007c0048 | a0007c0048t0004 | a0007c0048t0004g0148 | 1 | 416 | 0.0024 | -1410 | c.505 others(9): Show |
p.Arg others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6535/9629 | 5050/8553 | 1684/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152216177 | TAGAAGAC others(695): Show |
T | conservative_inframe_deletion | MODERATE | HG02145.hp2 HG02647.hp1 |
a0001 | a0001c0142a0001c0149 | a0001c0142t0001a0001c0149t0001 | a0001c0142t0001g0057 a0001c0149t0001g0064 |
2 | 416 | 0.0048 | -702 | c.475 others(9): Show |
p.Gly others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5527/9629 | 4750/8553 | 1584/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152218223 | TTGACCCA others(698): Show |
T | conservative_inframe_deletion | MODERATE | HG00438.hp2 HG02027.hp2 HG02040.hp1 others(1): Show |
a0001 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0026 a0001c0017t0005g0151 |
4 | 416 | 0.0096 | -705 | c.270 others(9): Show |
p.Gly others(14): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 3481/9629 | 2701/8553 | 901/2850 | chr1 | TogoVar |