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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYT1_chr20_64159452_64247253 | 64175881 | T | TAGCATCT others(46): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG01928.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0001g0129a0001c0001t0003g0116a0001c0001t0016g0067others(1): Show | 4 | 223 | 0.0179 | 53 | c.-99 others(72): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64175924 | T | TCTCCTGT others(46): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0088 | 1 | 223 | 0.0045 | 53 | c.-99 others(72): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64175942 | C | CCTGTAGT others(46): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0031 | 1 | 223 | 0.0045 | 53 | c.-99 others(72): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | chr20 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175345143 | T | TAAATAAA others(46): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01109.hp1 others(36): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0013a0002c0004others(15): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0022others(36): Show | a0001c0001t0002g0032a0001c0001t0012g0031a0001c0001t0022g0002others(36): Show | 39 | 64 | 0.6094 | 53 | c.109 others(74): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NAGK_chr2_71063648_71084808 | 71081058 | A | ATTTTATT others(46): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01169.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0002a0001c0004t0001g0033 | 4 | 442 | 0.0091 | 53 | c.*25 others(64): Show |
NAGK | ENSG00000124357.13 | transcript | ENST00000244204.11 | protein_coding | 1251 | chr2 | TogoVar | ||||||
NBEAL1_chr2_203009875_203230194 | 203116502 | C | CAGTGGCT others(46): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0278 | 1 | 292 | 0.0034 | 53 | c.259 others(70): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NBEAL1_chr2_203009875_203230194 | 203143396 | A | AAAATATT others(46): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(3): Show |
a0001a0002a0017 | a0001c0001a0002c0002a0017c0025 | a0001c0001t0001a0002c0002t0003a0017c0025t0003 | a0001c0001t0001g0216a0002c0002t0003g0046a0002c0002t0003g0048others(3): Show | 6 | 292 | 0.0206 | 53 | c.484 others(72): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NCAPH2_chr22_50503224_50529780 | 50504140 | A | ACCCCCCC others(46): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01361.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040a0001c0001t0001g0226a0001c0001t0001g0227others(1): Show | 4 | 384 | 0.0104 | 53 | c.-41 others(64): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4083 | chr22 | TogoVar | ||||||
NCAPH2_chr22_50503224_50529780 | 50504140 | A | ACCCCCCC others(46): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014a0001c0001t0004g0016 | 2 | 384 | 0.0052 | 53 | c.-41 others(64): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4083 | chr22 | TogoVar | ||||||
NCAPH2_chr22_50503224_50529780 | 50504140 | A | ACCCCCCC others(46): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0202 | 1 | 384 | 0.0026 | 53 | c.-41 others(64): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4083 | chr22 | TogoVar | ||||||
NCKAP1_chr2_182904115_183043457 | 182984423 | G | GGGTGTGT others(46): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0004 | a0001c0004t0062 | a0001c0004t0062g0194 | 1 | 218 | 0.0046 | 53 | c.100 others(72): Show |
NCKAP1 | ENSG00000061676.16 | transcript | ENST00000361354.9 | protein_coding | 10/30 | chr2 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124379017 | A | ATGGGACA others(46): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00735.hp1 others(61): Show |
a0001a0002a0003others(14): Show | a0001c0005a0001c0022a0001c0023others(41): Show | a0001c0005t0002a0001c0005t0003a0001c0005t0009others(58): Show | a0001c0005t0002g0099a0001c0005t0002g0100a0001c0005t0003g0186others(61): Show | 64 | 234 | 0.2735 | 53 | c.202 others(70): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 19/48 | chr12 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124379017 | A | ATGGGACA others(46): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0070 | 1 | 234 | 0.0043 | 53 | c.202 others(70): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 19/48 | chr12 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124379032 | C | CAAGGGCA others(46): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01106.hp2 HG01109.hp1 others(43): Show |
a0001a0002a0003others(10): Show | a0001c0013a0001c0026a0001c0027others(30): Show | a0001c0013t0002a0001c0013t0003a0001c0013t0009others(41): Show | a0001c0013t0002g0022a0001c0013t0003g0142a0001c0013t0009g0003others(43): Show | 46 | 234 | 0.1966 | 53 | c.202 others(70): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 19/48 | chr12 | TogoVar | ||||||
NDC1_chr1_53760478_53843296 | 53825460 | A | AAAAAAAA others(46): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 196 | 0.0051 | 53 | c.594 others(68): Show |
NDC1 | ENSG00000058804.12 | transcript | ENST00000371429.4 | protein_coding | 5/17 | chr1 | TogoVar | ||||||
NDC80_chr18_2566557_2621635 | 2614604 | A | AGAAAGAA others(46): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 402 | 0.0025 | 53 | c.179 others(72): Show |
NDC80 | ENSG00000080986.13 | transcript | ENST00000261597.9 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NDST4_chr4_114822763_115118620 | 115022242 | T | TACATATG others(46): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001a0002 | a0001c0004a0001c0005a0002c0007 | a0001c0004t0001a0001c0005t0001a0002c0007t0001 | a0001c0004t0001g0090a0001c0005t0001g0084a0001c0005t0001g0085others(1): Show | 4 | 190 | 0.0211 | 53 | c.979 others(72): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
NF2_chr22_29598633_29703598 | 29634613 | C | CTCCCCCC others(46): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0104 | 1 | 344 | 0.0029 | 53 | c.115 others(70): Show |
NF2 | ENSG00000186575.19 | transcript | ENST00000338641.10 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8656289 | C | CAGCCCAC others(46): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG03130.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0032a0001c0001t0057a0001c0001t0060others(1): Show | a0001c0001t0032g0125a0001c0001t0057g0126a0001c0001t0060g0124others(1): Show | 4 | 366 | 0.0109 | 53 | c.-16 others(74): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8656289 | C | CAGCCCAC others(46): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0006 | a0006c0006 | a0006c0006t0064 | a0006c0006t0064g0064 | 1 | 366 | 0.0027 | 53 | c.-16 others(74): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NGEF_chr2_232873701_233018256 | 232995496 | G | GTATATAT others(46): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0348 | 1 | 362 | 0.0028 | 53 | c.-75 others(72): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995574 | A | ATACAGTA others(46): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 362 | 0.0028 | 53 | c.-75 others(72): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NIBAN1_chr1_184786032_184979508 | 184913138 | T | TATATATA others(46): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 256 | 0.0039 | 53 | c.56- others(70): Show |
NIBAN1 | ENSG00000135842.17 | transcript | ENST00000367511.4 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
NID2_chr14_51999809_52074059 | 52030567 | A | AGAAAGAA others(46): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03491.hp1 |
a0004a0024 | a0004c0012a0024c0062 | a0004c0012t0002a0024c0062t0002 | a0004c0012t0002g0304a0024c0062t0002g0306 | 2 | 372 | 0.0054 | 53 | c.225 others(70): Show |
NID2 | ENSG00000087303.19 | transcript | ENST00000216286.10 | protein_coding | 9/21 | chr14 | TogoVar | ||||||
NINJ2_chr12_559296_668445 | 618241 | G | GGAGGTGG others(46): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0186 | 2 | 404 | 0.0050 | 53 | c.33+ others(70): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
NKTR_chr3_42595686_42653735 | 42596551 | C | CCACTCTT others(46): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 352 | 0.0028 | 53 | c.-42 others(64): Show |
NKTR | ENSG00000114857.19 | transcript | ENST00000232978.13 | protein_coding | 4134 | chr3 | TogoVar | ||||||
NLGN1_chr3_173392744_174299372 | 173771638 | G | GAGCTTTA others(46): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0003 | 1 | 44 | 0.0227 | 53 | c.554 others(72): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NLRP4_chr19_55831540_55886855 | 55862482 | G | GTTTATTG others(46): Show |
intron_variant | MODIFIER | HG06807.hp1 NA21309.hp1 |
a0002 | a0002c0003a0002c0017 | a0002c0003t0012a0002c0017t0019 | a0002c0003t0012g0221a0002c0017t0019g0332 | 2 | 424 | 0.0047 | 53 | c.218 others(70): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NLRP5_chr19_55994726_56066810 | 56005505 | T | TACACACA others(46): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02886.hp2 others(3): Show |
a0003a0016a0039 | a0003c0008a0016c0097a0039c0078 | a0003c0008t0001a0016c0097t0001a0039c0078t0001 | a0003c0008t0001g0309a0003c0008t0001g0310a0003c0008t0001g0311others(3): Show | 6 | 396 | 0.0152 | 53 | c.442 others(70): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NME2_chr17_51161411_51176744 | 51176422 | A | AAAAAAAA others(46): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 413 | 0.0024 | 53 | c.*48 others(64): Show |
NME2 | ENSG00000243678.12 | transcript | ENST00000512737.6 | protein_coding | 4679 | chr17 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162264469 | C | CTCTCCTC others(46): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 182 | 0.0055 | 53 | c.178 others(72): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
NOVA1_chr14_26438090_26603033 | 26443749 | T | TCTAATCA others(46): Show |
3_prime_UTR_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0114 | 1 | 244 | 0.0041 | 53 | c.*41 others(64): Show |
NOVA1 | ENSG00000139910.20 | transcript | ENST00000539517.7 | protein_coding | 5/5 | 4209 | chr14 | TogoVar | |||||
NOX1_chrX_100838324_100879359 | 100853291 | T | TTTCTTTC others(46): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 302 | 0.0033 | 53 | c.805 others(70): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | ||||||
NPC1L1_chr7_44507535_44546330 | 44543413 | T | TTCCTCCT others(46): Show |
upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 320 | 0.0031 | 53 | c.-21 others(64): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2084 | chr7 | TogoVar | ||||||
NPEPL1_chr20_58687800_58720844 | 58711110 | C | CTCCTCCT others(46): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01978.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0034 | 2 | 398 | 0.0050 | 53 | c.901 others(70): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 7/11 | chr20 | TogoVar | ||||||
NPIPA8_chr16_18312919_18341736 | 18341366 | A | AAGGATGG others(46): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0039 | 1 | 40 | 0.0250 | 53 | c.-50 others(64): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4631 | chr16 | TogoVar | ||||||
NPY4R_chr10_46456099_46470958 | 46466263 | C | CTCTCTCT others(46): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0036 | 1 | 290 | 0.0035 | 53 | c.-80 others(62): Show |
NPY4R | ENSG00000204174.8 | transcript | ENST00000374312.5 | protein_coding | 306 | chr10 | TogoVar | ||||||
NR0B1_chrX_30299206_30314390 | 30310802 | T | TTCCTTCC others(46): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 322 | 0.0031 | 53 | c.-14 others(64): Show |
NR0B1 | ENSG00000169297.8 | transcript | ENST00000378970.5 | protein_coding | 1413 | chrX | TogoVar | ||||||
NR2C1_chr12_95015229_95078618 | 95072802 | G | GCCCAGCC others(46): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 430 | 0.0023 | 53 | c.-8+ others(66): Show |
NR2C1 | ENSG00000120798.17 | transcript | ENST00000333003.10 | protein_coding | 1/13 | chr12 | TogoVar | ||||||
NRCAM_chr7_108142649_108461436 | 108299114 | A | AAAAAAAA others(46): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0200 | 1 | 208 | 0.0048 | 53 | c.-10 others(74): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 3/32 | chr7 | TogoVar | ||||||
NRG3_chr10_81870194_82992178 | 82132494 | T | TATATATA others(46): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01175.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0056a0001c0001t0001g0057others(5): Show | 8 | 66 | 0.1212 | 53 | c.824 others(74): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NRXN1_chr2_49913503_51037132 | 50334190 | C | CACATTTT others(46): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0007 | a0003c0007t0060 | a0003c0007t0060g0113 | 1 | 116 | 0.0086 | 53 | c.336 others(74): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(46): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0027 | 1 | 116 | 0.0086 | 53 | c.833 others(72): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(46): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0031 | 1 | 116 | 0.0086 | 53 | c.833 others(72): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(46): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0058 | 1 | 116 | 0.0086 | 53 | c.833 others(72): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NTS_chr12_85869295_85887992 | 85879249 | T | TTTATGTA others(46): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 2 | 420 | 0.0048 | 53 | c.360 others(68): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | chr12 | TogoVar | ||||||
NUDT3_chr6_34274679_34397669 | 34366473 | A | AAGGGAGG others(46): Show |
intron_variant | MODIFIER | NA18982.hp1 NA18983.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0087a0001c0001t0012g0088a0001c0001t0012g0092 | 3 | 270 | 0.0111 | 53 | c.100 others(72): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
NUDT3_chr6_34274679_34397669 | 34366473 | A | AAGGGAGG others(46): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0091 | 1 | 270 | 0.0037 | 53 | c.100 others(72): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
NUP160_chr11_47773118_47853350 | 47775212 | G | GAAAAAAA others(46): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 338 | 0.0030 | 53 | c.*38 others(64): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 2905 | chr11 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56740127 | A | ACCCCCCC others(46): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0345 | 1 | 378 | 0.0027 | 53 | c.-14 others(70): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |