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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NLRP4_chr19_55831540_55886855 | 55850243 | T | TGATTTCC others(93): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0348 | 1 | 406 | 0.0025 | 100 | c.-65 others(117): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NLRP4_chr19_55831540_55886855 | 55850312 | T | TGGCTGCG others(93): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0326 | 1 | 303 | 0.0033 | 100 | c.-65 others(117): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55850612 | A | AGACTGCG others(93): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0144 | 1 | 335 | 0.0030 | 100 | c.-65 others(117): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55850812 | A | AGGCTGCG others(93): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0310 | 1 | 394 | 0.0025 | 100 | c.-65 others(117): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55850987 | T | TTCCGAGG others(93): Show |
intron_variant | MODIFIER | HG02723.hp1 NA19240.hp2 |
a0001a0002 | a0001c0005a0002c0009 | a0001c0005t0013a0002c0009t0007 | a0001c0005t0013g0220 a0002c0009t0007g0408 |
2 | 329 | 0.0061 | 100 | c.-65 others(117): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851378 | C | CGGTGTAC others(93): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0172 | 1 | 407 | 0.0025 | 100 | c.-65 others(115): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851452 | T | TGGCTGCG others(93): Show |
intron_variant | MODIFIER | NA19066.hp2 NA19091.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0286 a0002c0002t0006g0287 |
2 | 305 | 0.0066 | 100 | c.-65 others(115): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851469 | C | CCGAGGCT others(93): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0215 | 1 | 406 | 0.0025 | 100 | c.-65 others(115): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851550 | C | CCGAGGCT others(93): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0231 | 1 | 378 | 0.0026 | 100 | c.-65 others(115): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851589 | T | TCCGAGGC others(93): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0412 | 1 | 420 | 0.0024 | 100 | c.-65 others(115): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851609 | T | TCCGAGGC others(93): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0219 | 1 | 418 | 0.0024 | 100 | c.-65 others(115): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851713 | A | AGGCTGCG others(93): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0402 | 1 | 299 | 0.0033 | 100 | c.-65 others(115): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55993412 | C | CCCTCCCC others(93): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0006 | a0006c0007 | a0006c0007t0007 | a0006c0007t0007g0062 | 1 | 340 | 0.0029 | 100 | c.*54 others(111): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4784 | chr19 | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162264464 | T | TCTTCTCT others(93): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 133 | 0.0075 | 100 | c.178 others(119): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535464 | C | CGGGGAGC others(93): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0005 | a0005c0050 | a0005c0050t0023 | a0005c0050t0023g0134 | 1 | 267 | 0.0037 | 100 | c.140 others(117): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGGGG others(93): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0047 | 1 | 206 | 0.0049 | 100 | c.140 others(117): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535570 | G | GGGGGGGG others(93): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0022 | a0022c0056 | a0022c0056t0002 | a0022c0056t0002g0146 | 1 | 306 | 0.0033 | 100 | c.140 others(117): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535597 | A | AGGGGCAA others(93): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02080.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0002a0001c0019 | a0001c0001t0004a0001c0002t0005a0001c0019t0002 | a0001c0001t0004g0069 a0001c0002t0005g0143 a0001c0019t0002g0150 |
3 | 262 | 0.0115 | 100 | c.140 others(117): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535607 | G | GGTGCAGG others(93): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0285 | 1 | 284 | 0.0035 | 100 | c.140 others(117): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535833 | A | AGGGGGGA others(93): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0253 | 1 | 285 | 0.0035 | 100 | c.140 others(117): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535891 | A | AGGGGGGA others(93): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 | 1 | 320 | 0.0031 | 100 | c.140 others(117): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535932 | G | GGGTGGGT others(93): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0163 | 1 | 322 | 0.0031 | 100 | c.140 others(117): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH3_chr19_15154038_15205995 | 15173744 | A | AGAAGAAG others(93): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0015 | a0002c0015t0008 | a0002c0015t0008g0316 | 1 | 331 | 0.0030 | 100 | c.473 others(117): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 25/32 | chr19 | TogoVar | |||||||
NPBWR2_chr20_64098802_64112565 | 64105555 | G | GTGATGAT others(93): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0068 | a0001c0002t0068g0067 | 1 | 354 | 0.0028 | 100 | c.*27 others(109): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 274 | chr20 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34792665 | T | TTATATAT others(93): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0021 | 1 | 172 | 0.0058 | 100 | c.384 others(119): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NRIP1_chr21_14956235_15070000 | 15030875 | G | GTACACTC others(93): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0377 | 1 | 383 | 0.0026 | 100 | c.-45 others(121): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15030895 | G | GGAGGGTC others(93): Show |
intron_variant | MODIFIER | NA18990.hp2 NA19085.hp2 NA19087.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(1): Show |
4 | 394 | 0.0102 | 100 | c.-45 others(121): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15030900 | A | ATCACCAC others(93): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 372 | 0.0027 | 100 | c.-45 others(121): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15030900 | A | ATCACCAC others(93): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02683.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0024a0001c0001t0025others(1): Show | a0001c0001t0001g0180 a0001c0001t0024g0225 a0001c0001t0025g0385 others(1): Show |
4 | 375 | 0.0107 | 100 | c.-45 others(121): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15030905 | C | CACATTCC others(93): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0353 a0001c0001t0004g0345 |
2 | 299 | 0.0067 | 100 | c.-45 others(121): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15030905 | C | CACATTCC others(93): Show |
intron_variant | MODIFIER | HG03654.hp1 HG04204.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0151 a0002c0003t0003g0152 |
2 | 299 | 0.0067 | 100 | c.-45 others(121): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15030905 | C | CACATTCC others(93): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(22): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0004a0001c0002t0009a0002c0003t0003others(3): Show | a0001c0001t0004g0063 a0001c0002t0009g0054 a0002c0003t0003g0027 others(22): Show |
25 | 322 | 0.0776 | 100 | c.-45 others(121): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15030905 | C | CACATTCC others(93): Show |
intron_variant | MODIFIER | NA18997.hp1 NA19003.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0025 a0002c0003t0003g0026 |
2 | 299 | 0.0067 | 100 | c.-45 others(121): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15030925 | G | GTACACTC others(93): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0004 | a0004c0015 | a0004c0015t0020 | a0004c0015t0020g0277 | 1 | 330 | 0.0030 | 100 | c.-45 others(121): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15030925 | G | GTACACTC others(93): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0042 | a0001c0004t0042g0365 | 1 | 330 | 0.0030 | 100 | c.-45 others(121): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15031103 | C | CACATTCC others(93): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01168.hp1 HG01168.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0021a0001c0002t0006others(3): Show | a0001c0001t0004g0377 a0001c0001t0021g0243 a0001c0002t0006g0235 others(6): Show |
9 | 174 | 0.0517 | 100 | c.-45 others(121): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15031243 | G | GGAGGTTC others(93): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0060 | 1 | 376 | 0.0027 | 100 | c.-45 others(121): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15031398 | A | ATCACCAC others(93): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0135 | 1 | 366 | 0.0027 | 100 | c.-45 others(121): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRSN1_chr6_24121215_24152530 | 24150816 | C | CAAGAAAG others(93): Show |
downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0019 | 1 | 218 | 0.0046 | 100 | c.*48 others(111): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3287 | chr6 | TogoVar | |||||||
NRSN1_chr6_24121215_24152530 | 24150881 | A | AAGAAAGA others(93): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 319 | 0.0031 | 100 | c.*49 others(111): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3352 | chr6 | TogoVar | |||||||
NT5DC4_chr2_112716020_112744095 | 112732316 | G | GCAGGGGC others(93): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 169 | 0.0059 | 100 | c.134 others(119): Show |
NT5DC4 | ENSG00000144130.12 | transcript | ENST00000688554.1 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 132070398 | T | TTAACACG others(93): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 85 | 0.0118 | 100 | c.168 others(119): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
NTNG2_chr9_132157058_132249526 | 132174317 | C | CAGACGGA others(93): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 | 1 | 321 | 0.0031 | 100 | c.213 others(117): Show |
NTNG2 | ENSG00000196358.12 | transcript | ENST00000393229.4 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
NTRK2_chr9_84664729_85032054 | 84797561 | C | CTATATAT others(93): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02559.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(11): Show | a0001c0001t0001g0008 a0001c0001t0001g0131 a0001c0001t0006g0009 others(13): Show |
16 | 162 | 0.0988 | 100 | c.139 others(121): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NTRK2_chr9_84664729_85032054 | 85004039 | A | AAGAAAGA others(93): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 48 | 0.0208 | 100 | c.217 others(121): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NTS_chr12_85869295_85887992 | 85879284 | A | ATGTACGT others(93): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0051 others(5): Show |
32 | 387 | 0.0827 | 100 | c.360 others(115): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154125622 | A | AAAGGAAG others(93): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 23 | 0.0435 | 100 | c.132 others(117): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 10/39 | chr1 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56739855 | C | CCCCCCCA others(93): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 374 | 0.0027 | 100 | c.-14 others(117): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56808153 | T | TAATATAT others(93): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0371 | 1 | 76 | 0.0132 | 100 | c.489 others(117): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56808153 | T | TAATATAT others(93): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 2 | 77 | 0.0260 | 100 | c.489 others(117): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |