| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(12677): Show |
stop_gained others(1): Show |
HIGH | NA18961.hp1 | a0166 | a0166c0140 | a0166c0140t0001 | a0166c0140t0001g0136 | 1 | 406 | 0.0025 | 12684 | c.481 others(12693): Show |
p.Ser others(12699): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
| MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(12700): Show |
frameshift_variant others(1): Show |
HIGH | NA18949.hp2 | a0144 | a0144c0123 | a0144c0123t0001 | a0144c0123t0001g0114 | 1 | 406 | 0.0025 | 12707 | c.481 others(12716): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
| MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(10960): Show |
frameshift_variant others(1): Show |
HIGH | NA19076.hp1 | a0131 | a0131c0120 | a0131c0120t0001 | a0131c0120t0001g0126 | 1 | 406 | 0.0025 | 10967 | c.481 others(10976): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
| MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(10452): Show |
frameshift_variant others(1): Show |
HIGH | NA19086.hp1 | a0125 | a0125c0144 | a0125c0144t0001 | a0125c0144t0001g0154 | 1 | 406 | 0.0025 | 10459 | c.481 others(10468): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
| MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(8776): Show |
frameshift_variant others(1): Show |
HIGH | NA19076.hp2 | a0071 | a0071c0100 | a0071c0100t0002 | a0071c0100t0002g0254 | 1 | 406 | 0.0025 | 8783 | c.481 others(8792): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
| MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(8773): Show |
frameshift_variant others(1): Show |
HIGH | NA19086.hp2 | a0072 | a0072c0099 | a0072c0099t0006 | a0072c0099t0006g0061 | 1 | 406 | 0.0025 | 8780 | c.481 others(8789): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
| MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(9277): Show |
frameshift_variant others(1): Show |
HIGH | NA18956.hp2 | a0129 | a0129c0167 | a0129c0167t0001 | a0129c0167t0001g0177 | 1 | 406 | 0.0025 | 9284 | c.481 others(9293): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
| MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(9277): Show |
frameshift_variant others(1): Show |
HIGH | NA19082.hp1 | a0157 | a0157c0172 | a0157c0172t0001 | a0157c0172t0001g0096 | 1 | 406 | 0.0025 | 9284 | c.481 others(9293): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
| MUCL3_chr6_30935973_30959221 | 30948774 | A | T | stop_gained | HIGH | HG00642.hp2 | a0013 | a0013c0028 | a0013c0028t0001 | a0013c0028t0001g0046 | 1 | 441 | 0.0023 | 0 | c.310 others(3): Show |
p.Lys others(4): Show |
MUCL3 | ENSG00000168631.14 | transcript | ENST00000462446.6 | protein_coding | 2/3 | 337/5313 | 310/4182 | 104/1393 | chr6 | TogoVar | ||
| MUCL3_chr6_30935973_30959221 | 30948789 | A | T | stop_gained | HIGH | HG00642.hp2 | a0013 | a0013c0028 | a0013c0028t0001 | a0013c0028t0001g0046 | 1 | 441 | 0.0023 | 0 | c.325 others(3): Show |
p.Lys others(4): Show |
MUCL3 | ENSG00000168631.14 | transcript | ENST00000462446.6 | protein_coding | 2/3 | 352/5313 | 325/4182 | 109/1393 | chr6 | TogoVar | ||
| MUCL3_chr6_30935973_30959221 | 30950970 | C | CCATCTCT others(119): Show |
stop_gained others(1): Show |
HIGH | HG03516.hp1 | a0017 | a0017c0021 | a0017c0021t0001 | a0017c0021t0001g0112 | 1 | 441 | 0.0023 | 126 | c.250 others(135): Show |
p.Gln others(138): Show |
MUCL3 | ENSG00000168631.14 | transcript | ENST00000462446.6 | protein_coding | 2/3 | 2534/5313 | 2507/4182 | 836/1393 | chr6 | TogoVar | ||
| MYBPC2_chr19_50427892_50471321 | 50454331 | G | A | stop_gained | HIGH | HG04228.hp2 | a0020 | a0020c0033 | a0020c0033t0001 | a0020c0033t0001g0235 | 1 | 396 | 0.0025 | 0 | c.197 others(4): Show |
p.Trp others(4): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 18/28 | 2038/3604 | 1976/3426 | 659/1141 | chr19 | TogoVar | ||
| MYBPC3_chr11_47326406_47357702 | 47332692 | A | C | stop_gained | HIGH | NA18998.hp2 | a0016 | a0016c0021 | a0016c0021t0001 | a0016c0021t0001g0098 | 1 | 374 | 0.0027 | 0 | c.350 others(4): Show |
p.Tyr others(5): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 32/35 | 3556/4217 | 3501/3825 | 1167/1274 | chr11 | TogoVar | ||
| MYD88_chr3_38133661_38148022 | 38138849 | T | TGGCGGAG others(21): Show |
frameshift_variant others(1): Show |
HIGH | NA18972.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0001 | 1 | 408 | 0.0025 | 28 | c.151 others(35): Show |
p.Glu others(4): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1/5 | 219/2667 | 179/891 | 60/296 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| MYH11_chr16_15698135_15862028 | 15738574 | C | A | stop_gained | HIGH | HG01168.hp1 | a0008 | a0008c0039 | a0008c0039t0002 | a0008c0039t0002g0118 | 1 | 297 | 0.0034 | 0 | c.311 others(4): Show |
p.Glu others(5): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 24/41 | 3217/6880 | 3112/5919 | 1038/1972 | chr16 | TogoVar | ||
| MYH14_chr19_50198622_50315540 | 50225654 | A | AAGAATGA others(9): Show |
frameshift_variant others(1): Show |
HIGH | NA18993.hp1 | a0024 | a0024c0052 | a0024c0052t0001 | a0024c0052t0001g0039 | 1 | 298 | 0.0034 | 16 | c.788 others(23): Show |
p.Arg others(5): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 7/43 | 857/6914 | 804/6111 | 268/2036 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| MYH6_chr14_23376987_23413273 | 23403382 | G | C | stop_gained | HIGH | HG01074.hp2 | a0010 | a0010c0044 | a0010c0044t0001 | a0010c0044t0001g0125 | 1 | 370 | 0.0027 | 0 | c.864 others(3): Show |
p.Tyr others(4): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 10/39 | 931/5940 | 864/5820 | 288/1939 | chr14 | TogoVar | ||
| MYH8_chr17_10385322_10426950 | 10396553 | G | A | stop_gained others(1): Show |
HIGH | NA18964.hp1 | a0016 | a0016c0024 | a0016c0024t0002 | a0016c0024t0002g0071 | 1 | 324 | 0.0031 | 0 | c.452 others(4): Show |
p.Gln others(5): Show |
MYH8 | ENSG00000133020.4 | transcript | ENST00000403437.2 | protein_coding | 32/40 | 4623/6041 | 4528/5814 | 1510/1937 | chr17 | TogoVar | ||
| MYH8_chr17_10385322_10426950 | 10398875 | G | A | stop_gained | HIGH | NA19059.hp1 | a0021 | a0021c0034 | a0021c0034t0001 | a0021c0034t0001g0182 | 1 | 324 | 0.0031 | 0 | c.387 others(4): Show |
p.Arg others(5): Show |
MYH8 | ENSG00000133020.4 | transcript | ENST00000403437.2 | protein_coding | 29/40 | 3969/6041 | 3874/5814 | 1292/1937 | chr17 | TogoVar | ||
| MYO15B_chr17_75582800_75631849 | 75589275 | G | A | stop_gained | HIGH | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(34): Show |
a0003a0050 | a0003c0008a0003c0024a0003c0025others(24): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(24): Show | a0003c0008t0002g0045a0003c0008t0002g0063a0003c0008t0002g0066others(33): Show | 37 | 384 | 0.0964 | 0 | c.121 others(4): Show |
p.Trp others(4): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 1476/9914 | 1218/9291 | 406/3096 | chr17 | TogoVar | ||
| MYO15B_chr17_75582800_75631849 | 75605873 | C | T | stop_gained | HIGH | HG03579.hp2 | a0093 | a0093c0074 | a0093c0074t0001 | a0093c0074t0001g0313 | 1 | 384 | 0.0026 | 0 | c.414 others(4): Show |
p.Gln others(5): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 21/64 | 4402/9914 | 4144/9291 | 1382/3096 | chr17 | TogoVar | ||
| MYO15B_chr17_75582800_75631849 | 75605879 | C | T | stop_gained | HIGH | HG02647.hp2 HG02717.hp2 HG02895.hp2 others(2): Show |
a0009a0015a0114 | a0009c0031a0015c0040a0114c0111 | a0009c0031t0001a0015c0040t0002a0114c0111t0001 | a0009c0031t0001g0287a0009c0031t0001g0288a0015c0040t0002g0008others(1): Show | 5 | 384 | 0.0130 | 0 | c.415 others(4): Show |
p.Gln others(5): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 21/64 | 4408/9914 | 4150/9291 | 1384/3096 | chr17 | TogoVar | ||
| MYO19_chr17_36490636_36539868 | 36503175 | G | A | stop_gained | HIGH | HG03540.hp2 | a0013 | a0013c0022 | a0013c0022t0001 | a0013c0022t0001g0132 | 1 | 373 | 0.0027 | 0 | c.200 others(4): Show |
p.Arg others(4): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 21/26 | 2405/3931 | 2002/2913 | 668/970 | chr17 | TogoVar | ||
| MYO1A_chr12_57023517_57055129 | 57043322 | G | C | stop_gained | HIGH | HG00735.hp1 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0093 | 1 | 348 | 0.0029 | 0 | c.929 others(3): Show |
p.Ser others(4): Show |
MYO1A | ENSG00000166866.13 | transcript | ENST00000300119.8 | protein_coding | 11/28 | 1192/3633 | 929/3132 | 310/1043 | chr12 | TogoVar | ||
| MYO3A_chr10_25929229_26217532 | 26193249 | C | T | stop_gained | HIGH | HG03831.hp1 | a0023 | a0023c0037 | a0023c0037t0001 | a0023c0037t0001g0018 | 1 | 280 | 0.0036 | 0 | c.448 others(4): Show |
p.Arg others(5): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 32/35 | 4687/5624 | 4483/4851 | 1495/1616 | chr10 | TogoVar | ||
| MYOC_chr1_171630417_171657688 | 171652476 | G | A | stop_gained | HIGH | NA18612.hp2 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0229 | 1 | 434 | 0.0023 | 0 | c.136 others(3): Show |
p.Arg others(3): Show |
MYOC | ENSG00000034971.17 | transcript | ENST00000037502.11 | protein_coding | 1/3 | 213/2100 | 136/1515 | 46/504 | chr1 | TogoVar | ||
| MYOM2_chr8_2040046_2150456 | 2078837 | C | T | stop_gained | HIGH | NA19085.hp1 | a0057 | a0057c0167 | a0057c0167t0001 | a0057c0167t0001g0399 | 1 | 403 | 0.0025 | 0 | c.136 others(4): Show |
p.Arg others(4): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 12/37 | 1501/5008 | 1366/4398 | 456/1465 | chr8 | TogoVar | ||
| MYOM2_chr8_2040046_2150456 | 2090031 | G | A | stop_gained | HIGH | HG01081.hp2 | a0071 | a0071c0087 | a0071c0087t0002 | a0071c0087t0002g0228 | 1 | 403 | 0.0025 | 0 | c.166 others(4): Show |
p.Trp others(4): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 15/37 | 1803/5008 | 1668/4398 | 556/1465 | chr8 | TogoVar | ||
| MYOM3_chr1_24051041_24117135 | 24106050 | C | A | stop_gained | HIGH | NA19012.hp1 | a0026 | a0026c0037 | a0026c0037t0001 | a0026c0037t0001g0168 | 1 | 364 | 0.0028 | 0 | c.430 others(3): Show |
p.Glu others(4): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 5/37 | 553/5760 | 430/4314 | 144/1437 | chr1 | TogoVar | ||
| MYORG_chr9_34361666_34381898 | 34372875 | G | C | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00609.hp1 others(56): Show |
a0004a0006 | a0004c0004a0004c0005a0004c0015others(1): Show | a0004c0004t0003a0004c0004t0018a0004c0004t0037others(4): Show | a0004c0004t0003g0005a0004c0004t0003g0021a0004c0004t0003g0034others(10): Show | 59 | 452 | 0.1305 | 0 | c.69C others(2): Show |
p.Tyr others(3): Show |
MYORG | ENSG00000164976.9 | transcript | ENST00000297625.8 | protein_coding | 2/2 | 238/6447 | 69/2145 | 23/714 | chr9 | TogoVar | ||
| MYSM1_chr1_58649743_58705062 | 58660057 | A | T | stop_gained | HIGH | NA18974.hp2 | a0009 | a0009c0012 | a0009c0012t0048 | a0009c0012t0048g0168 | 1 | 410 | 0.0024 | 0 | c.242 others(4): Show |
p.Tyr others(4): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 20/20 | 2437/7751 | 2427/2487 | 809/828 | chr1 | TogoVar | ||
| NAALAD2_chr11_90129663_90197894 | 90163539 | G | A | stop_gained | HIGH | HG04115.hp1 | a0011 | a0011c0019 | a0011c0019t0006 | a0011c0019t0006g0042 | 1 | 364 | 0.0028 | 0 | c.120 others(4): Show |
p.Trp others(4): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 11/19 | 1296/3466 | 1200/2223 | 400/740 | chr11 | TogoVar | ||
| NACA2_chr17_61585421_61596219 | 61590592 | G | A | stop_gained | HIGH | HG00140.hp2 HG00408.hp2 HG00642.hp2 others(51): Show |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0001a0007c0007t0001 | a0002c0002t0001g0000a0007c0007t0001g0000 | 54 | 400 | 0.1350 | 0 | c.589 others(3): Show |
p.Arg others(4): Show |
NACA2 | ENSG00000253506.3 | transcript | ENST00000521764.3 | protein_coding | 1/1 | 628/799 | 589/648 | 197/215 | chr17 | TogoVar | ||
| NACA2_chr17_61585421_61596219 | 61591134 | A | T | stop_gained | HIGH | HG03710.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0000 | 1 | 400 | 0.0025 | 0 | c.47T others(2): Show |
p.Leu others(3): Show |
NACA2 | ENSG00000253506.3 | transcript | ENST00000521764.3 | protein_coding | 1/1 | 86/799 | 47/648 | 16/215 | chr17 | TogoVar | ||
| NACAD_chr7_45075437_45093969 | 45088870 | C | A | stop_gained | HIGH | NA18956.hp2 | a0071 | a0071c0088 | a0071c0088t0001 | a0071c0088t0001g0106 | 1 | 410 | 0.0024 | 0 | c.25G others(2): Show |
p.Glu others(2): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 1/8 | 100/4836 | 25/4689 | 9/1562 | chr7 | TogoVar | ||
| NACA_chr12_56707427_56730299 | 56719845 | A | T | stop_gained | HIGH | HG02273.hp2 | a0043 | a0043c0046 | a0043c0046t0001 | a0043c0046t0001g0057 | 1 | 366 | 0.0027 | 0 | c.168 others(4): Show |
p.Leu others(4): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 1724/6387 | 1685/6237 | 562/2078 | chr12 | TogoVar | ||
| NACA_chr12_56707427_56730299 | 56720104 | C | A | stop_gained | HIGH | HG02273.hp2 | a0043 | a0043c0046 | a0043c0046t0001 | a0043c0046t0001g0057 | 1 | 366 | 0.0027 | 0 | c.142 others(4): Show |
p.Glu others(4): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 1465/6387 | 1426/6237 | 476/2078 | chr12 | TogoVar | ||
| NANOGP8_chr15_35078410_35090295 | 35084348 | G | A | stop_gained | HIGH | NA18957.hp1 | a0011 | a0011c0012 | a0011c0012t0008 | a0011c0012t0008g0000 | 1 | 476 | 0.0021 | 0 | c.763 others(3): Show |
p.Gln others(4): Show |
NANOGP8 | ENSG00000255192.7 | transcript | ENST00000528386.4 | protein_coding | 1/1 | 948/1886 | 763/918 | 255/305 | chr15 | TogoVar | ||
| NANOG_chr12_7784402_7804146 | 7795039 | C | T | stop_gained | HIGH | HG02735.hp2 | a0005 | a0005c0012 | a0005c0012t0025 | a0005c0012t0025g0005 | 1 | 434 | 0.0023 | 0 | c.862 others(3): Show |
p.Gln others(4): Show |
NANOG | ENSG00000111704.11 | transcript | ENST00000229307.9 | protein_coding | 4/4 | 1075/5182 | 862/918 | 288/305 | chr12 | TogoVar | ||
| NAP1L4_chr11_2939437_2997329 | 2964706 | T | TCACTTTA others(3): Show |
frameshift_variant others(1): Show |
HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0119 | 1 | 335 | 0.0030 | 10 | c.570 others(17): Show |
p.Lys others(5): Show |
NAP1L4 | ENSG00000205531.14 | transcript | ENST00000380542.9 | protein_coding | 8/16 | 672/2463 | 579/1128 | 193/375 | chr11 | TogoVar | ||
| NARF_chr17_82453741_82495537 | 82485576 | A | AACATCCA others(37): Show |
frameshift_variant others(1): Show |
HIGH | NA19062.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0123 | 1 | 356 | 0.0028 | 44 | c.106 others(53): Show |
p.Asn others(5): Show |
NARF | ENSG00000141562.19 | transcript | ENST00000309794.16 | protein_coding | 10/11 | 1125/3814 | 1062/1371 | 354/456 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| NAT10_chr11_34100629_34151908 | 34108810 | T | G | stop_gained | HIGH | NA18983.hp2 | a0008 | a0008c0013 | a0008c0013t0002 | a0008c0013t0002g0232 | 1 | 262 | 0.0038 | 0 | c.177 others(3): Show |
p.Tyr others(3): Show |
NAT10 | ENSG00000135372.10 | transcript | ENST00000257829.8 | protein_coding | 3/29 | 356/3973 | 177/3078 | 59/1025 | chr11 | TogoVar | ||
| NAT1_chr8_18205109_18228689 | 18222606 | C | T | stop_gained | HIGH | HG02622.hp1 NA21309.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0014 | 2 | 482 | 0.0042 | 0 | c.559 others(3): Show |
p.Arg others(4): Show |
NAT1 | ENSG00000171428.15 | transcript | ENST00000307719.9 | protein_coding | 3/3 | 716/1799 | 559/873 | 187/290 | chr8 | TogoVar | ||
| NAT8_chr2_73635723_73647422 | 73641582 | C | T | stop_gained | HIGH | NA18945.hp2 | a0012 | a0012c0011 | a0012c0011t0007 | a0012c0011t0007g0016 | 1 | 396 | 0.0025 | 0 | c.47G others(2): Show |
p.Trp others(3): Show |
NAT8 | ENSG00000144035.4 | transcript | ENST00000272425.4 | protein_coding | 2/2 | 226/1085 | 47/684 | 16/227 | chr2 | TogoVar | ||
| NAT9_chr17_74765529_74781345 | 74773610 | A | T | stop_gained | HIGH | NA18953.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0054 | 1 | 386 | 0.0026 | 0 | c.156 others(3): Show |
p.Tyr others(3): Show |
NAT9 | ENSG00000109065.12 | transcript | ENST00000357814.8 | protein_coding | 3/7 | 244/1907 | 156/624 | 52/207 | chr17 | TogoVar | ||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(1535): Show |
stop_gained others(1): Show |
HIGH | HG02056.hp2 | a0013 | a0013c0172 | a0013c0172t0003 | a0013c0172t0003g0178 | 1 | 283 | 0.0035 | 1542 | c.109 others(1553): Show |
p.Gly others(1557): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | ||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6271): Show |
frameshift_variant others(1): Show |
HIGH | HG03130.hp2 | a0204 | a0204c0226 | a0204c0226t0007 | a0204c0226t0007g0217 | 1 | 283 | 0.0035 | 6278 | c.109 others(6289): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | ||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6269): Show |
stop_gained others(1): Show |
HIGH | NA19240.hp1 | a0205 | a0205c0227 | a0205c0227t0007 | a0205c0227t0007g0218 | 1 | 283 | 0.0035 | 6276 | c.109 others(6287): Show |
p.Gly others(6291): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | ||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6259): Show |
frameshift_variant others(1): Show |
HIGH | HG01074.hp2 HG01106.hp1 |
a0035 | a0035c0021 | a0035c0021t0003 | a0035c0021t0003g0006 | 2 | 283 | 0.0071 | 6266 | c.109 others(6277): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | ||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6261): Show |
frameshift_variant others(1): Show |
HIGH | NA18954.hp2 | a0146 | a0146c0184 | a0146c0184t0003 | a0146c0184t0003g0204 | 1 | 283 | 0.0035 | 6268 | c.109 others(6279): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar |