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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYOM2_chr8_2040046_2150456 | 2100064 | CCTTCTTT others(40): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01192.hp2 others(13): Show |
a0001a0003a0006others(4): Show | a0001c0002a0001c0009a0001c0116others(11): Show | a0001c0002t0001a0001c0009t0002a0001c0116t0001others(11): Show | a0001c0002t0001g0383 a0001c0009t0002g0015 a0001c0116t0001g0016 others(13): Show |
16 | 380 | 0.0421 | -47 | c.244 others(64): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64173786 | CCTGCAGC others(40): Show |
C | intron_variant | MODIFIER | HG02040.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0025 a0001c0001t0013g0026 |
2 | 219 | 0.0091 | -47 | c.-99 others(64): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64173836 | CCTGCAGC others(40): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0048 | 1 | 218 | 0.0046 | -47 | c.-99 others(64): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64173936 | CCTGTAGC others(40): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0013 | a0001c0001t0010g0012 a0001c0001t0013g0014 |
2 | 222 | 0.0090 | -47 | c.-99 others(64): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64173954 | GTAGTTGT others(40): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00735.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(10): Show | a0001c0001t0001g0064 a0001c0001t0001g0100 a0001c0001t0001g0101 others(17): Show |
20 | 219 | 0.0913 | -47 | c.-99 others(64): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64173969 | CCCCCTCC others(40): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG04204.hp2 |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0023 | a0001c0005t0003g0029 a0001c0005t0023g0028 |
2 | 63 | 0.0317 | -47 | c.-99 others(64): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174551 | GTAGTTGT others(40): Show |
G | intron_variant | MODIFIER | HG03453.hp2 HG03942.hp1 HG04199.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0008a0001c0005t0001a0001c0006t0015 | a0001c0001t0008g0019 a0001c0005t0001g0030 a0001c0005t0001g0031 others(1): Show |
4 | 221 | 0.0181 | -47 | c.-99 others(64): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174651 | GTAGTTGT others(40): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0014 | 1 | 221 | 0.0045 | -47 | c.-99 others(64): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174666 | CCCCCTCC others(40): Show |
C | intron_variant | MODIFIER | NA19043.hp1 NA20905.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0015 | a0001c0002t0002g0041 a0001c0006t0015g0027 |
2 | 50 | 0.0400 | -47 | c.-99 others(65): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174977 | CCTGCAGC others(40): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0006 | a0001c0006t0015 | a0001c0006t0015g0027 | 1 | 222 | 0.0045 | -47 | c.-99 others(66): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64175077 | CCTGCAGC others(40): Show |
C | intron_variant | MODIFIER | HG02040.hp2 HG02897.hp2 NA18612.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0006 | a0001c0001t0001g0025 a0001c0001t0013g0026 a0001c0002t0006g0021 |
3 | 211 | 0.0142 | -47 | c.-99 others(66): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64175298 | GTAGTTGT others(40): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02809.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0016 a0001c0002t0002g0107 |
2 | 220 | 0.0091 | -47 | c.-99 others(66): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64235202 | CCCCGGGA others(40): Show |
C | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0021 | 1 | 222 | 0.0045 | -47 | c.289 others(66): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57687499 | ATGTGTGT others(40): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0003 | a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0003t0001g0113 others(1): Show |
4 | 350 | 0.0114 | -47 | c.*30 others(58): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2136 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688082 | TATGTGTG others(40): Show |
T | downstream_gene_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0056 | 1 | 342 | 0.0029 | -47 | c.*35 others(58): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2719 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688083 | ATGTGTGT others(40): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 a0001c0001t0001g0272 |
2 | 260 | 0.0077 | -47 | c.*35 others(58): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2720 | chr15 | TogoVar | |||||||
NCLN_chr19_3180930_3214575 | 3200348 | GTCACCAG others(40): Show |
G | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0140 | 1 | 408 | 0.0025 | -47 | c.697 others(64): Show |
NCLN | ENSG00000125912.11 | transcript | ENST00000246117.9 | protein_coding | 5/14 | chr19 | TogoVar | |||||||
NCOA6_chr20_34709774_34830651 | 34817161 | ATGTATAT others(40): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01071.hp2 HG01934.hp2 others(3): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0001 a0001c0001t0001g0102 a0001c0001t0001g0108 others(3): Show |
6 | 261 | 0.0230 | -47 | c.-16 others(66): Show |
NCOA6 | ENSG00000198646.14 | transcript | ENST00000359003.7 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16167033 | ATACATTA others(40): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0005 | a0005c0019 | a0005c0019t0014 | a0005c0019t0014g0179 | 1 | 280 | 0.0036 | -47 | c.436 others(64): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 4/45 | chr17 | TogoVar | |||||||
NELL1_chr11_20664586_21580686 | 20798970 | GATAAATA others(40): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp2 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0022a0002c0002others(5): Show | a0001c0001t0001a0001c0022t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0037 a0001c0022t0001g0040 a0002c0002t0001g0010 others(19): Show |
22 | 86 | 0.2558 | -47 | c.335 others(66): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NELL1_chr11_20664586_21580686 | 20863228 | GCCCCCCA others(40): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 86 | 0.0116 | -47 | c.506 others(66): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807564 | ACCTTCCC others(40): Show |
A | upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0012 | 1 | 298 | 0.0034 | -47 | c.-17 others(58): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1628 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807603 | ACCTTCCC others(40): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02165.hp2 NA18906.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0009 | a0001c0001t0001a0002c0003t0002a0005c0009t0001 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0020 others(3): Show |
6 | 182 | 0.0330 | -47 | c.-16 others(58): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1589 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807606 | TTCCCTCC others(40): Show |
T | upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 235 | 0.0043 | -47 | c.-16 others(58): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1586 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807845 | ACCCTCCC others(40): Show |
A | upstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0070 | 1 | 278 | 0.0036 | -47 | c.-14 others(58): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1347 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807884 | ACCTTCCC others(40): Show |
A | upstream_gene_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG01993.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0001a0002c0003t0002 | a0001c0001t0003g0129 a0001c0002t0001g0002 a0001c0002t0001g0004 others(4): Show |
8 | 195 | 0.0410 | -47 | c.-13 others(58): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1308 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807887 | TTCCCTCC others(40): Show |
T | upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 208 | 0.0048 | -47 | c.-13 others(58): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1305 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807927 | ACCCTCCC others(40): Show |
A | upstream_gene_variant | MODIFIER | HG02809.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0001 | a0001c0001t0003g0126 a0001c0004t0001g0111 |
2 | 201 | 0.0100 | -47 | c.-13 others(58): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1265 | chr2 | TogoVar | |||||||
NFE2L3_chr7_26147198_26192137 | 26148248 | GGGGGGGT others(40): Show |
G | upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0001 | 1 | 363 | 0.0028 | -47 | c.-42 others(58): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 3949 | chr7 | TogoVar | |||||||
NFKB2_chr10_102390705_102407524 | 102397259 | GAAAGAAC others(40): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | NA18979.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0037 | 1 | 422 | 0.0024 | -47 | c.396 others(57): Show |
p.Gln others(19): Show |
NFKB2 | ENSG00000077150.21 | transcript | ENST00000661543.1 | protein_coding | 7/23 | 396/2703 | 132/900 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||
NGB_chr14_77260483_77276206 | 77269667 | TTTCTCTC others(40): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 337 | 0.0030 | -47 | c.90- others(60): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
NGB_chr14_77260483_77276206 | 77269680 | CTCTCTCT others(40): Show |
C | intron_variant | MODIFIER | HG03453.hp2 NA18966.hp2 NA19006.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0034 |
5 | 364 | 0.0137 | -47 | c.90- others(60): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
NGB_chr14_77260483_77276206 | 77269756 | TCTCTCTC others(40): Show |
T | intron_variant | MODIFIER | HG01975.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0024 a0001c0001t0003g0014 |
2 | 362 | 0.0055 | -47 | c.90- others(60): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232896899 | GGGGTAAG others(40): Show |
G | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0200 | 1 | 360 | 0.0028 | -47 | c.829 others(64): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
NGF_chr1_115280917_115343249 | 115282515 | ATCTATCT others(40): Show |
A | downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0364 | 1 | 416 | 0.0024 | -47 | c.*35 others(58): Show |
NGF | ENSG00000134259.6 | transcript | ENST00000369512.3 | protein_coding | 3401 | chr1 | TogoVar | |||||||
NLGN1_chr3_173392744_174299372 | 173894880 | ACCCGCCT others(40): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 44 | 0.0227 | -47 | c.706 others(66): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NMNAT2_chr1_183243237_183423380 | 183389804 | GAAAGAAA others(40): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008 | a0001c0001t0003g0062 a0001c0001t0005g0026 a0001c0001t0008g0059 |
3 | 255 | 0.0118 | -47 | c.85+ others(64): Show |
NMNAT2 | ENSG00000157064.11 | transcript | ENST00000287713.7 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
NMRK2_chr19_3928069_3947416 | 3937367 | TCCCCCGG others(40): Show |
T | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 402 | 0.0025 | -47 | c.166 others(61): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NMRK2_chr19_3928069_3947416 | 3937459 | TCCCCCGG others(40): Show |
T | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 401 | 0.0025 | -47 | c.166 others(62): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NMRK2_chr19_3928069_3947416 | 3937472 | GCCCTCCT others(40): Show |
G | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 402 | 0.0025 | -47 | c.166 others(62): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2960969 | ATATTATA others(40): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 |
a0006 | a0006c0015a0006c0017 | a0006c0015t0007a0006c0017t0001 | a0006c0015t0007g0255 a0006c0017t0001g0301 |
2 | 418 | 0.0048 | -47 | c.195 others(64): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535432 | CTCCCTCC others(40): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0006t0004 | a0001c0001t0004g0127 a0001c0006t0004g0064 |
2 | 322 | 0.0062 | -47 | c.140 others(64): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NPIPB11_chr16_29376310_29411711 | 29403642 | TGCTCAAG others(40): Show |
T | frameshift_variant others(3): Show |
HIGH | NA19043.hp2 | a0067 | a0067c0039 | a0067c0039t0021 | a0067c0039t0021g0041 | 1 | 426 | 0.0023 | -47 | c.114 others(57): Show |
p.Arg others(4): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 2/8 | 114/3486 | 38/1161 | chr16 | TogoVar | ||||
NRROS_chr3_196634694_196667004 | 196634704 | TGGAGAAG others(40): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01099.hp2 NA18939.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0004t0001g0237 |
3 | 439 | 0.0068 | -47 | c.-51 others(58): Show |
NRROS | ENSG00000174004.6 | transcript | ENST00000328557.5 | protein_coding | 4989 | chr3 | TogoVar | |||||||
NSMCE2_chr8_125086860_125372120 | 125223169 | AACATGGT others(40): Show |
A | intron_variant | MODIFIER | NA18946.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0155 |
2 | 242 | 0.0083 | -47 | c.418 others(66): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NTN5_chr19_48656407_48678017 | 48669772 | TCACCATC others(40): Show |
T | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 410 | 0.0024 | -47 | c.631 others(62): Show |
NTN5 | ENSG00000142233.14 | transcript | ENST00000270235.11 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
NUP54_chr4_76109664_76153397 | 76136988 | TTTTCTAA others(40): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0064 | 1 | 368 | 0.0027 | -47 | c.296 others(62): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
NWD1_chr19_16714847_16822953 | 16735819 | AAGGAAGG others(40): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0278 | 1 | 298 | 0.0034 | -47 | c.82- others(60): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NXNL1_chr19_17450425_17465926 | 17463911 | GAAGAAGA others(40): Show |
G | upstream_gene_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 1 | 406 | 0.0025 | -47 | c.-30 others(58): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2986 | chr19 | TogoVar | |||||||
NXPE4_chr11_114565591_114600786 | 114566215 | CATCGATA others(40): Show |
C | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0018 | a0003c0018t0002 | a0003c0018t0002g0095 | 1 | 430 | 0.0023 | -47 | c.*46 others(58): Show |
NXPE4 | ENSG00000137634.10 | transcript | ENST00000375478.4 | protein_coding | 4375 | chr11 | TogoVar |