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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYD88_chr3_38133661_38148022 | 38138849 | T | TGGCGGAG others(21): Show |
frameshift_variant others(1): Show |
HIGH | NA18972.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0001 | 1 | 406 | 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 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0117 | 1 | 296 | 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 | a0030 | a0030c0052 | a0030c0052t0001 | a0030c0052t0001g0039 | 1 | 296 | 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 | a0011 | a0011c0044 | a0011c0044t0001 | a0011c0044t0001g0118 | 1 | 368 | 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 | a0022 | a0022c0024 | a0022c0024t0002 | a0022c0024t0002g0071 | 1 | 322 | 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 | a0024 | a0024c0034 | a0024c0034t0001 | a0024c0034t0001g0181 | 1 | 322 | 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 |
a0003a0097 | a0003c0008a0003c0024a0003c0025others(24): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(24): Show | a0003c0008t0002g0047 a0003c0008t0002g0065 a0003c0008t0002g0068 others(33): Show |
37 | 382 | 0.0969 | 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 | a0091 | a0091c0078 | a0091c0078t0001 | a0091c0078t0001g0304 | 1 | 382 | 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 |
a0009a0013a0074 | a0009c0031a0013c0040a0074c0111 | a0009c0031t0001a0013c0040t0002a0074c0111t0001 | a0009c0031t0001g0280 a0009c0031t0001g0281 a0013c0040t0002g0011 others(1): Show |
5 | 382 | 0.0131 | 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 | a0012 | a0012c0022 | a0012c0022t0001 | a0012c0022t0001g0128 | 1 | 372 | 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 | 346 | 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 | a0028 | a0028c0037 | a0028c0037t0001 | a0028c0037t0001g0013 | 1 | 278 | 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 | a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0226 | 1 | 432 | 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 | a0091 | a0091c0167 | a0091c0167t0001 | a0091c0167t0001g0399 | 1 | 402 | 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 | a0046 | a0046c0087 | a0046c0087t0002 | a0046c0087t0002g0230 | 1 | 402 | 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 | a0061 | a0061c0037 | a0061c0037t0001 | a0061c0037t0001g0171 | 1 | 362 | 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 |
a0004a0008 | a0004c0004a0004c0005a0004c0015others(1): Show | a0004c0004t0003a0004c0004t0018a0004c0004t0037others(4): Show | a0004c0004t0003g0005 a0004c0004t0003g0021 a0004c0004t0003g0034 others(10): Show |
59 | 450 | 0.1311 | 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 | a0010 | a0010c0012 | a0010c0012t0048 | a0010c0012t0048g0128 | 1 | 408 | 0.0025 | 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 | a0012 | a0012c0019 | a0012c0019t0006 | a0012c0019t0006g0049 | 1 | 362 | 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(50): Show |
a0002a0004 | a0002c0002a0004c0007 | a0002c0002t0001a0004c0007t0001 | a0002c0002t0001g0000 a0004c0007t0001g0000 |
53 | 398 | 0.1332 | 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 | a0007 | a0007c0005 | a0007c0005t0001 | a0007c0005t0001g0000 | 1 | 398 | 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 | a0047 | a0047c0075 | a0047c0075t0001 | a0047c0075t0001g0094 | 1 | 408 | 0.0025 | 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 | a0024 | a0024c0038 | a0024c0038t0001 | a0024c0038t0001g0052 | 1 | 364 | 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 | a0024 | a0024c0038 | a0024c0038t0001 | a0024c0038t0001g0052 | 1 | 364 | 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 | a0013 | a0013c0012 | a0013c0012t0008 | a0013c0012t0008g0000 | 1 | 474 | 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 | a0003 | a0003c0012 | a0003c0012t0025 | a0003c0012t0025g0005 | 1 | 432 | 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 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0116 | 1 | 334 | 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 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0120 | 1 | 354 | 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 | a0013 | a0013c0013 | a0013c0013t0002 | a0013c0013t0002g0222 | 1 | 254 | 0.0039 | 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 | a0003c0004t0001g0015 | 2 | 480 | 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 | a0011 | a0011c0011 | a0011c0011t0007 | a0011c0011t0007g0016 | 1 | 394 | 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 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0053 | 1 | 384 | 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 | a0004 | a0004c0118 | a0004c0118t0003 | a0004c0118t0003g0175 | 1 | 263 | 0.0038 | 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 | a0084 | a0084c0145 | a0084c0145t0007 | a0084c0145t0007g0259 | 1 | 263 | 0.0038 | 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 | a0108 | a0108c0146 | a0108c0146t0007 | a0108c0146t0007g0260 | 1 | 263 | 0.0038 | 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 |
a0004 | a0004c0031 | a0004c0031t0003 | a0004c0031t0003g0011 | 2 | 264 | 0.0076 | 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 | a0004 | a0004c0125 | a0004c0125t0003 | a0004c0125t0003g0202 | 1 | 263 | 0.0038 | 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 | |||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6267): Show |
frameshift_variant others(1): Show |
HIGH | HG03195.hp1 NA20752.hp2 |
a0004 | a0004c0127a0004c0129 | a0004c0127t0003a0004c0129t0003 | a0004c0127t0003g0186 a0004c0129t0003g0189 |
2 | 264 | 0.0076 | 6274 | c.109 others(6285): 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(6267): Show |
frameshift_variant others(1): Show |
HIGH | HG04199.hp1 | a0004 | a0004c0119 | a0004c0119t0003 | a0004c0119t0003g0169 | 1 | 263 | 0.0038 | 6274 | c.109 others(6285): 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(6265): Show |
frameshift_variant others(1): Show |
HIGH | NA20129.hp1 | a0004 | a0004c0135 | a0004c0135t0003 | a0004c0135t0003g0198 | 1 | 263 | 0.0038 | 6272 | c.109 others(6283): 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(6263): Show |
stop_gained others(1): Show |
HIGH | HG00741.hp2 HG02735.hp2 |
a0004 | a0004c0126a0004c0134 | a0004c0126t0003a0004c0134t0003 | a0004c0126t0003g0203 a0004c0134t0003g0185 |
2 | 264 | 0.0076 | 6270 | c.109 others(6281): Show |
p.Gly others(6285): 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(6263): Show |
stop_gained others(1): Show |
HIGH | HG03710.hp2 | a0004 | a0004c0131 | a0004c0131t0015 | a0004c0131t0015g0168 | 1 | 263 | 0.0038 | 6270 | c.109 others(6281): Show |
p.Gly others(6285): 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(6265): Show |
frameshift_variant others(1): Show |
HIGH | NA18968.hp2 | a0004 | a0004c0124 | a0004c0124t0003 | a0004c0124t0003g0162 | 1 | 263 | 0.0038 | 6272 | c.109 others(6283): 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 | NA19062.hp1 | a0004 | a0004c0147 | a0004c0147t0003 | a0004c0147t0003g0266 | 1 | 263 | 0.0038 | 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 | |||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6259): Show |
frameshift_variant others(1): Show |
HIGH | HG01256.hp2 HG01258.hp1 |
a0004 | a0004c0028 | a0004c0028t0003 | a0004c0028t0003g0164 a0004c0028t0003g0178 |
2 | 264 | 0.0076 | 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(6263): Show |
stop_gained others(1): Show |
HIGH | HG00558.hp2 HG02132.hp1 HG02155.hp2 |
a0004 | a0004c0029a0004c0113 | a0004c0029t0008a0004c0029t0016a0004c0113t0003 | a0004c0029t0008g0161 a0004c0029t0016g0180 a0004c0113t0003g0195 |
3 | 265 | 0.0113 | 6270 | c.109 others(6281): Show |
p.Gly others(6285): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146069627 | C | A | stop_gained | HIGH | HG00639.hp1 | a0005 | a0005c0003 | a0005c0003t0004 | a0005c0003t0004g0242 | 1 | 282 | 0.0035 | 0 | c.107 others(5): Show |
p.Glu others(5): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 86/90 | 10761/13030 | 10726/11388 | 3576/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146097947 | A | C | stop_gained | HIGH | HG02559.hp2 | a0066 | a0066c0074 | a0066c0074t0005 | a0066c0074t0005g0136 | 1 | 282 | 0.0035 | 0 | c.637 others(4): Show |
p.Tyr others(5): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 50/90 | 6410/13030 | 6375/11388 | 2125/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146100362 | G | GGTCCTTT others(4716): Show |
frameshift_variant others(1): Show |
HIGH | HG01256.hp2 HG01258.hp1 |
a0004 | a0004c0028 | a0004c0028t0003 | a0004c0028t0003g0164 a0004c0028t0003g0178 |
2 | 266 | 0.0075 | 4723 | c.592 others(4732): Show |
p.Gln others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 47/90 | 5960/13030 | 5925/11388 | 1975/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146102753 | C | CTGCAAGA others(4728): Show |
frameshift_variant others(1): Show |
HIGH | HG02735.hp2 | a0004 | a0004c0126 | a0004c0126t0003 | a0004c0126t0003g0203 | 1 | 279 | 0.0036 | 4735 | c.555 others(4744): Show |
p.His others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 44/90 | 5593/13030 | 5558/11388 | 1853/3795 | chr1 | TogoVar |