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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NEU4_chr2_241804193_241822413 | 241808083 | A | ACCCTCCC others(36): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 92 | 0.0109 | 43 | c.-11 others(54): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1109 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241812487 | C | CGAGGACA others(36): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp1 others(20): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0003g0011 a0001c0001t0003g0043 a0001c0001t0003g0177 others(14): Show |
23 | 175 | 0.1314 | 43 | c.-3- others(58): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79427684 | T | TGGCTGGC others(36): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01243.hp2 others(14): Show |
a0001a0008 | a0001c0004a0001c0006a0001c0008others(4): Show | a0001c0004t0004a0001c0006t0049a0001c0008t0005others(10): Show | a0001c0004t0004g0078 a0001c0004t0004g0282 a0001c0006t0049g0049 others(14): Show |
17 | 320 | 0.0531 | 43 | c.122 others(62): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232993155 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0018 | 1 | 296 | 0.0034 | 43 | c.-74 others(62): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NIBAN1_chr1_184786032_184979508 | 184913139 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02040.hp2 HG02074.hp1 others(8): Show |
a0001a0002 | a0001c0014a0002c0005 | a0001c0014t0010a0002c0005t0007a0002c0005t0024others(1): Show | a0001c0014t0010g0169 a0001c0014t0010g0207 a0001c0014t0010g0238 others(8): Show |
11 | 223 | 0.0493 | 43 | c.56- others(60): Show |
NIBAN1 | ENSG00000135842.17 | transcript | ENST00000367511.4 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
NIM1K_chr5_43187225_43285850 | 43189493 | T | TACAGTAA others(36): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 290 | 0.0034 | 43 | c.-36 others(54): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 2731 | chr5 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAA others(36): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 37 | 0.0270 | 43 | c.33+ others(60): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NIP7_chr16_69334772_69348106 | 69339282 | T | TGAAGGGG others(36): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 398 | 0.0025 | 43 | c.-54 others(52): Show |
NIP7 | ENSG00000132603.15 | transcript | ENST00000254940.10 | protein_coding | 489 | chr16 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1398114 | T | TGGATGCC others(36): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 380 | 0.0026 | 43 | c.*48 others(54): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4817 | chr4 | TogoVar | |||||||
NLRP12_chr19_53788741_53829314 | 53823519 | C | CATATATT others(36): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0375 | 1 | 127 | 0.0079 | 43 | c.289 others(58): Show |
NLRP12 | ENSG00000142405.23 | transcript | ENST00000324134.11 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NLRP2_chr19_54961374_55006138 | 54976810 | C | CTTTTTTT others(36): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0388 | 1 | 242 | 0.0041 | 43 | c.326 others(58): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55993445 | C | CCTCTCCC others(36): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0011 | a0011c0012 | a0011c0012t0014 | a0011c0012t0014g0044 | 1 | 309 | 0.0032 | 43 | c.*55 others(54): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4817 | chr19 | TogoVar | |||||||
NME2_chr17_51161411_51176744 | 51176422 | A | AAAAAAAA others(36): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 184 | 0.0054 | 43 | c.*48 others(54): Show |
NME2 | ENSG00000243678.12 | transcript | ENST00000512737.6 | protein_coding | 4679 | chr17 | TogoVar | |||||||
NME2_chr17_51161411_51176744 | 51176422 | A | AAAAAAAA others(36): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 184 | 0.0054 | 43 | c.*48 others(54): Show |
NME2 | ENSG00000243678.12 | transcript | ENST00000512737.6 | protein_coding | 4679 | chr17 | TogoVar | |||||||
NME7_chr1_169127531_169372797 | 169345301 | A | ATTTTCTA others(36): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(33): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0002a0003c0004t0002a0004c0005t0002 | a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 others(33): Show |
36 | 300 | 0.1200 | 43 | c.4-2 others(58): Show |
NME7 | ENSG00000143156.14 | transcript | ENST00000367811.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37847905 | A | AGAAGAAG others(36): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01496.hp1 HG02293.hp1 others(5): Show |
a0003a0006a0009 | a0003c0003a0006c0016a0009c0022 | a0003c0003t0002a0006c0016t0002a0009c0022t0002 | a0003c0003t0002g0039 a0003c0003t0002g0269 a0003c0003t0002g0301 others(4): Show |
8 | 325 | 0.0246 | 43 | c.-10 others(54): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 691 | chr7 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132149534 | C | CACCACAC others(36): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0207 | 1 | 227 | 0.0044 | 43 | c.901 others(58): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149754 | C | CACACACC others(36): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0028 | 1 | 241 | 0.0041 | 43 | c.901 others(58): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOL4_chr18_33846100_34229913 | 34024194 | A | AAATATAT others(36): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 35 | 0.0286 | 43 | c.773 others(60): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 5/10 | chr18 | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162261539 | A | AGAGAGAG others(36): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG02698.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0053 a0001c0001t0002g0126 a0001c0001t0004g0150 others(7): Show |
10 | 105 | 0.0952 | 43 | c.178 others(62): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162264469 | C | CTCTCCTC others(36): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02109.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0021a0001c0002t0005others(1): Show | a0001c0001t0002g0102 a0001c0001t0021g0069 a0001c0002t0005g0060 others(1): Show |
4 | 14 | 0.2857 | 43 | c.178 others(62): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162264469 | C | CTCTCCTC others(36): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG02280.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0017others(7): Show | a0001c0001t0002g0025 a0001c0001t0002g0057 a0001c0001t0002g0126 others(17): Show |
20 | 30 | 0.6667 | 43 | c.178 others(62): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGGGG others(36): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 | 1 | 206 | 0.0049 | 43 | c.140 others(60): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535719 | G | GGTCGGGG others(36): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02071.hp1 NA20805.hp1 others(1): Show |
a0001 | a0001c0002a0001c0006a0001c0017 | a0001c0002t0002a0001c0006t0002a0001c0017t0002 | a0001c0002t0002g0090 a0001c0006t0002g0121 a0001c0017t0002g0002 |
4 | 305 | 0.0131 | 43 | c.140 others(60): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535730 | A | AGCACTCA others(36): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02738.hp2 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0030a0001c0009t0001 | a0001c0003t0030g0259 a0001c0009t0001g0287 |
2 | 311 | 0.0064 | 43 | c.140 others(60): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89438549 | A | ATATAGTA others(36): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03098.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0002t0012a0001c0002t0027 | a0001c0001t0022g0155 a0001c0002t0012g0156 a0001c0002t0027g0168 |
3 | 274 | 0.0109 | 43 | c.475 others(60): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 6/17 | chr11 | TogoVar | |||||||
NPAS3_chr14_32933879_33809173 | 33301323 | T | TATATATA others(36): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0003 | 1 | 84 | 0.0119 | 43 | c.386 others(62): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5964941 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0157 | 1 | 32 | 0.0313 | 43 | c.517 others(60): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | |||||||
NPIPB7_chr16_28451329_28477336 | 28456547 | C | CGATTGTT others(36): Show |
frameshift_variant others(1): Show |
HIGH | HG02109.hp2 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0054 | 1 | 275 | 0.0036 | 43 | c.112 others(52): Show |
p.Arg others(5): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 7/7 | 3019/3238 | 1121/1245 | 374/414 | chr16 | TogoVar | |||
NRG2_chr5_139841781_140048299 | 140029687 | C | CAAAAAAA others(36): Show |
intron_variant | MODIFIER | HG00639.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0114 |
2 | 121 | 0.0165 | 43 | c.700 others(62): Show |
NRG2 | ENSG00000158458.21 | transcript | ENST00000361474.6 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
NRG4_chr15_75935936_76017424 | 75996489 | A | AGACAGTG others(36): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 366 | 0.0027 | 43 | c.104 others(62): Show |
NRG4 | ENSG00000169752.17 | transcript | ENST00000394907.8 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50334190 | C | CACATTTT others(36): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0062 | 1 | 93 | 0.0108 | 43 | c.336 others(64): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(36): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0052 | 1 | 7 | 0.1429 | 43 | c.833 others(62): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 79006160 | T | TGAGAGAA others(36): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03453.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0013a0001c0002t0007others(2): Show | a0001c0001t0003g0013 a0001c0001t0013g0007 a0001c0002t0007g0009 others(2): Show |
5 | 24 | 0.2083 | 43 | c.326 others(64): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79006172 | G | GTAAGCCT others(36): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0003a0001c0004a0001c0006others(2): Show | a0001c0003t0004a0001c0004t0006a0001c0006t0017others(2): Show | a0001c0003t0004g0015 a0001c0004t0006g0021 a0001c0006t0017g0001 others(3): Show |
6 | 24 | 0.2500 | 43 | c.326 others(64): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131874030 | A | AATATAAT others(36): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02922.hp1 HG04228.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0007a0002c0003t0006 | a0001c0001t0003g0032 a0001c0001t0007g0007 a0002c0003t0006g0071 |
3 | 25 | 0.1200 | 43 | c.83- others(60): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTSR1_chr20_62703836_62767771 | 62755239 | C | CCATTCAC others(36): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02572.hp1 HG02698.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008a0001c0002t0041others(1): Show | a0001c0002t0001g0085 a0001c0002t0008g0035 a0001c0002t0008g0068 others(9): Show |
12 | 311 | 0.0386 | 43 | c.916 others(58): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NTSR1_chr20_62703836_62767771 | 62755734 | C | CTCCCTCC others(36): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 313 | 0.0032 | 43 | c.916 others(58): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NTS_chr12_85869295_85887992 | 85879256 | A | ATATTTTA others(36): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0002g0081 |
2 | 12 | 0.1667 | 43 | c.360 others(58): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
NUB1_chr7_151336812_151383449 | 151359507 | C | CGTGGCTC others(36): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0107 a0001c0001t0007g0132 a0001c0001t0007g0145 others(2): Show |
5 | 416 | 0.0120 | 43 | c.694 others(58): Show |
NUB1 | ENSG00000013374.17 | transcript | ENST00000568733.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NUDT17_chr1_145840630_145853954 | 145842809 | A | AGATAGAT others(36): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0003g0004 |
2 | 386 | 0.0052 | 43 | c.-28 others(54): Show |
NUDT17 | ENSG00000186364.12 | transcript | ENST00000334513.6 | protein_coding | 2820 | chr1 | TogoVar | |||||||
NUDT4_chr12_93372925_93413146 | 93382674 | C | CTTTTTTT others(36): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0218 | 1 | 170 | 0.0059 | 43 | c.99+ others(58): Show |
NUDT4 | ENSG00000173598.14 | transcript | ENST00000415493.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NUP160_chr11_47773118_47853350 | 47775210 | T | TAGAAAAA others(36): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 HG04228.hp2 NA18953.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 a0001c0001t0002g0282 a0001c0001t0002g0305 others(1): Show |
4 | 258 | 0.0155 | 43 | c.*38 others(54): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 2907 | chr11 | TogoVar | |||||||
NUP210L_chr1_153987690_154160073 | 154140666 | C | CAAAAAAA others(36): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 280 | 0.0036 | 43 | c.567 others(58): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 4/39 | chr1 | TogoVar | |||||||
NUP214_chr9_131120586_131239663 | 131223727 | A | ATTTATTT others(36): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 21 | 0.0476 | 43 | c.590 others(60): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 32/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUPR1_chr16_28527708_28543974 | 28535563 | C | CTTTCTTT others(36): Show |
3_prime_UTR_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 304 | 0.0033 | 43 | c.*21 others(54): Show |
NUPR1 | ENSG00000176046.9 | transcript | ENST00000324873.8 | protein_coding | 3/3 | 2455 | chr16 | TogoVar | ||||||
NUPR1_chr16_28527708_28543974 | 28535571 | C | CCTTCCTT others(36): Show |
3_prime_UTR_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 131 | 0.0076 | 43 | c.*21 others(54): Show |
NUPR1 | ENSG00000176046.9 | transcript | ENST00000324873.8 | protein_coding | 3/3 | 2447 | chr16 | TogoVar | ||||||
NWD1_chr19_16714847_16822953 | 16761358 | T | TTCTTTCT others(36): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03471.hp2 |
a0004a0006 | a0004c0009a0006c0014 | a0004c0009t0009a0006c0014t0008 | a0004c0009t0009g0047 a0006c0014t0008g0253 |
2 | 280 | 0.0071 | 43 | c.197 others(60): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NXF2B_chrX_102355395_102445008 | 102412530 | A | AGAAGAAG others(36): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 54 | 0.0185 | 43 | c.-54 others(62): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 2/22 | chrX | TogoVar | |||||||
NXNL1_chr19_17450425_17465926 | 17453115 | A | ATATATAT others(36): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0065 |
2 | 198 | 0.0101 | 43 | c.*25 others(54): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2309 | chr19 | TogoVar |