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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYSM1_chr1_58649743_58705062 | 58658958 | A | AACACACA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0177 | 1 | 410 | 0.0024 | 20 | c.*10 others(31): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 20/20 | 1038 | chr1 | TogoVar | |||||
MYSM1_chr1_58649743_58705062 | 58698084 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01255.hp2 HG01496.hp2 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0012a0004c0004t0069 | a0004c0004t0012g0365a0004c0004t0012g0366a0004c0004t0012g0367others(2): Show | 5 | 410 | 0.0122 | 20 | c.68+ others(35): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698084 | C | CTCTATAT others(13): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0004 | a0004c0004t0040 | a0004c0004t0040g0345 | 1 | 410 | 0.0024 | 20 | c.68+ others(35): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0231 | 1 | 410 | 0.0024 | 20 | c.68+ others(35): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03225.hp2 |
a0004 | a0004c0004 | a0004c0004t0026 | a0004c0004t0026g0033a0004c0004t0026g0034 | 2 | 410 | 0.0049 | 20 | c.68+ others(35): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1956191 | G | GTCTGTCT others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03453.hp1 NA19065.hp2 |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0001a0001c0007t0006a0001c0009t0008 | a0001c0001t0001g0025a0001c0007t0006g0080a0001c0009t0008g0007 | 3 | 104 | 0.0289 | 20 | c.153 others(39): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 8/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1956574 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 NA20129.hp2 |
a0001 | a0001c0007a0001c0009 | a0001c0007t0004a0001c0009t0006 | a0001c0007t0004g0006a0001c0009t0006g0075 | 2 | 104 | 0.0192 | 20 | c.153 others(39): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 8/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2017726 | C | CTCCATCC others(13): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0008 | 1 | 104 | 0.0096 | 20 | c.-15 others(41): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2211807 | A | AGAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02559.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(4): Show | a0001c0002t0001g0089a0001c0002t0002g0045a0001c0002t0002g0047others(5): Show | 8 | 104 | 0.0769 | 20 | c.-42 others(41): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2279564 | T | TGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047 | 1 | 104 | 0.0096 | 20 | c.-42 others(39): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64170884 | T | TATAGAGA others(13): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 223 | 0.0045 | 20 | c.-99 others(37): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64170884 | T | TATATAGA others(13): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0218 | 1 | 223 | 0.0045 | 20 | c.-99 others(37): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYZAP_chr15_57586904_57690364 | 57616822 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01361.hp2 HG01952.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0002c0004t0001 | a0001c0001t0001g0173a0001c0001t0001g0222a0001c0001t0001g0233others(5): Show | 8 | 352 | 0.0227 | 20 | c.163 others(37): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MZT1_chr13_72703367_72732629 | 72724752 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 384 | 0.0026 | 20 | c.79+ others(35): Show |
MZT1 | ENSG00000204899.6 | transcript | ENST00000377818.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
MZT1_chr13_72703367_72732629 | 72724752 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 384 | 0.0026 | 20 | c.79+ others(35): Show |
MZT1 | ENSG00000204899.6 | transcript | ENST00000377818.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
MZT1_chr13_72703367_72732629 | 72724752 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG00735.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0022a0001c0001t0001g0058a0001c0001t0001g0061others(5): Show | 12 | 384 | 0.0313 | 20 | c.79+ others(35): Show |
MZT1 | ENSG00000204899.6 | transcript | ENST00000377818.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
N4BP2L2_chr13_32505292_32543795 | 32540970 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG01516.hp2 HG01517.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0010a0002c0002t0016 | a0001c0001t0003g0004a0001c0001t0003g0017a0001c0001t0003g0235others(2): Show | 6 | 394 | 0.0152 | 20 | c.-23 others(31): Show |
N4BP2L2 | ENSG00000244754.9 | transcript | ENST00000267068.6 | protein_coding | 2176 | chr13 | TogoVar | ||||||
N4BP2_chr4_40051850_40163252 | 40134931 | T | TTTTTATT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(72): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0002c0010others(5): Show | a0001c0001t0008a0002c0002t0001a0002c0002t0010others(9): Show | a0001c0001t0008g0236a0002c0002t0001g0001a0002c0002t0001g0002others(70): Show | 75 | 366 | 0.2049 | 20 | c.464 others(39): Show |
N4BP2 | ENSG00000078177.15 | transcript | ENST00000261435.11 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
N4BP3_chr5_178108532_178131081 | 178113423 | T | TCGGGGCC others(13): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0017 | 5 | 436 | 0.0115 | 20 | c.-37 others(29): Show |
N4BP3 | ENSG00000145911.6 | transcript | ENST00000274605.6 | protein_coding | 108 | chr5 | TogoVar | ||||||
N6AMT1_chr21_28867191_28890367 | 28877259 | G | GGGAAGGA others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01074.hp1 others(25): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0044a0001c0001t0001g0046others(11): Show | 28 | 422 | 0.0664 | 20 | c.539 others(35): Show |
N6AMT1 | ENSG00000156239.12 | transcript | ENST00000303775.10 | protein_coding | 5/5 | chr21 | TogoVar | ||||||
N6AMT1_chr21_28867191_28890367 | 28877297 | G | GAAGGAAG others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0126 | 1 | 422 | 0.0024 | 20 | c.539 others(35): Show |
N6AMT1 | ENSG00000156239.12 | transcript | ENST00000303775.10 | protein_coding | 5/5 | chr21 | TogoVar | ||||||
NAA11_chr4_79311647_79331061 | 79314641 | T | TAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 398 | 0.0050 | 20 | c.*31 others(31): Show |
NAA11 | ENSG00000156269.5 | transcript | ENST00000286794.5 | protein_coding | 2005 | chr4 | TogoVar | ||||||
NAA15_chr4_139296505_139396384 | 139314998 | C | CAGTTTAG others(13): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03492.hp1 NA19009.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0003g0124a0001c0001t0003g0210a0001c0001t0008g0045others(2): Show | 5 | 334 | 0.0150 | 20 | c.54+ others(37): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NAA15_chr4_139296505_139396384 | 139315006 | T | TTTAGGTT others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 334 | 0.0030 | 20 | c.54+ others(37): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NAA15_chr4_139296505_139396384 | 139315006 | T | TTTAGTTT others(13): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 334 | 0.0030 | 20 | c.54+ others(37): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NAA15_chr4_139296505_139396384 | 139315006 | T | TTTAGTTT others(13): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0279a0001c0001t0001g0280a0001c0001t0001g0281others(1): Show | 4 | 334 | 0.0120 | 20 | c.54+ others(37): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NAA15_chr4_139296505_139396384 | 139315051 | G | GTTAGGTT others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01358.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0185a0001c0001t0002g0193a0001c0001t0002g0194 | 3 | 334 | 0.0090 | 20 | c.54+ others(37): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NAA16_chr13_41306267_41382030 | 41353113 | T | TCAAAACA others(13): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02970.hp1 NA18940.hp1 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0003a0001c0017t0006 | a0001c0001t0003g0146a0001c0001t0003g0171a0001c0017t0006g0090 | 3 | 354 | 0.0085 | 20 | c.101 others(39): Show |
NAA16 | ENSG00000172766.19 | transcript | ENST00000379406.8 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NAA16_chr13_41306267_41382030 | 41353113 | T | TCAAAACA others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00639.hp1 others(56): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0004a0005c0007others(1): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(4): Show | a0001c0001t0003g0003a0001c0001t0003g0006a0001c0001t0003g0014others(52): Show | 59 | 354 | 0.1667 | 20 | c.101 others(39): Show |
NAA16 | ENSG00000172766.19 | transcript | ENST00000379406.8 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NAA25_chr12_112021689_112113783 | 112086073 | T | TATACACA others(13): Show |
intron_variant | MODIFIER | NA19057.hp1 NA19083.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0017 | a0001c0001t0003g0062a0002c0002t0017g0319 | 2 | 342 | 0.0059 | 20 | c.402 others(37): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 4/23 | chr12 | TogoVar | ||||||
NAA25_chr12_112021689_112113783 | 112086073 | T | TATATACA others(13): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 342 | 0.0029 | 20 | c.402 others(37): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 4/23 | chr12 | TogoVar | ||||||
NAA25_chr12_112021689_112113783 | 112086073 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0230 | 1 | 342 | 0.0029 | 20 | c.402 others(37): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 4/23 | chr12 | TogoVar | ||||||
NAA25_chr12_112021689_112113783 | 112086102 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02523.hp1 NA18971.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0034a0001c0001t0003g0065a0001c0001t0003g0066others(3): Show | 6 | 342 | 0.0175 | 20 | c.402 others(37): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 4/23 | chr12 | TogoVar | ||||||
NAALAD2_chr11_90129663_90197894 | 90154998 | T | TATATTAT others(13): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0204 | 1 | 364 | 0.0028 | 20 | c.796 others(37): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | chr11 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 174930614 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02615.hp1 |
a0002a0006 | a0002c0005a0006c0010 | a0002c0005t0008a0006c0010t0009 | a0002c0005t0008g0007a0006c0010t0009g0054 | 2 | 64 | 0.0313 | 20 | c.43+ others(37): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175093408 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0007 | a0007c0014 | a0007c0014t0004 | a0007c0014t0004g0040 | 1 | 64 | 0.0156 | 20 | c.44- others(35): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175181767 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03225.hp2 NA19043.hp1 |
a0002a0005a0011 | a0002c0005a0005c0011a0011c0021 | a0002c0005t0032a0005c0011t0004a0011c0021t0003 | a0002c0005t0032g0050a0005c0011t0004g0029a0011c0021t0003g0042 | 3 | 64 | 0.0469 | 20 | c.546 others(39): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175314694 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0064 | 1 | 64 | 0.0156 | 20 | c.940 others(37): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175393280 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0011 | a0011c0021 | a0011c0021t0003 | a0011c0021t0003g0042 | 1 | 64 | 0.0156 | 20 | c.109 others(41): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175463724 | G | GAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG01261.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0005a0003c0007others(2): Show | a0001c0001t0031a0002c0005t0011a0003c0007t0006others(3): Show | a0001c0001t0031g0026a0002c0005t0011g0019a0003c0007t0006g0041others(3): Show | 6 | 64 | 0.0938 | 20 | c.132 others(37): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175465473 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02055.hp2 HG02895.hp1 |
a0001a0006a0008 | a0001c0001a0006c0009a0008c0019 | a0001c0001t0003a0006c0009t0009a0008c0019t0017 | a0001c0001t0003g0015a0006c0009t0009g0061a0008c0019t0017g0004 | 3 | 64 | 0.0469 | 20 | c.132 others(39): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175501424 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18906.hp1 |
a0002a0004 | a0002c0004a0004c0002 | a0002c0004t0001a0004c0002t0026 | a0002c0004t0001g0044a0004c0002t0026g0011 | 2 | 64 | 0.0313 | 20 | c.165 others(41): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175628609 | C | CTATGTGT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0009 | 1 | 64 | 0.0156 | 20 | c.189 others(39): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175698473 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03209.hp2 |
a0004a0013 | a0004c0008a0013c0016 | a0004c0008t0010a0013c0016t0002 | a0004c0008t0010g0036a0013c0016t0002g0059 | 2 | 64 | 0.0313 | 20 | c.189 others(41): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175698483 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0003a0007c0012t0029 | a0001c0001t0003g0015a0007c0012t0029g0024 | 2 | 64 | 0.0313 | 20 | c.189 others(41): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175763083 | C | CAAATAAA others(13): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02615.hp2 NA19043.hp2 |
a0005a0007a0011 | a0005c0006a0007c0012a0011c0021 | a0005c0006t0001a0007c0012t0003a0011c0021t0003 | a0005c0006t0001g0057a0007c0012t0003g0033a0011c0021t0003g0042 | 3 | 64 | 0.0469 | 20 | c.218 others(39): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NACC2_chr9_136001537_136100289 | 136096492 | G | GCACACAC others(13): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG01928.hp2 HG02109.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0023a0001c0002t0079others(4): Show | a0001c0001t0001g0023a0001c0001t0023g0033a0001c0002t0079g0041others(4): Show | 7 | 348 | 0.0201 | 20 | c.-13 others(31): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1204 | chr9 | TogoVar | ||||||
NADK2_chr5_36187589_36246925 | 36213618 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00733.hp1 HG01106.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0013a0001c0001t0002g0170a0001c0001t0002g0185others(29): Show | 44 | 384 | 0.1146 | 20 | c.782 others(37): Show |
NADK2 | ENSG00000152620.13 | transcript | ENST00000381937.9 | protein_coding | 6/11 | chr5 | TogoVar | ||||||
NAGA_chr22_42053334_42075812 | 42057901 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 418 | 0.0024 | 20 | c.*23 others(31): Show |
NAGA | ENSG00000198951.12 | transcript | ENST00000396398.8 | protein_coding | 432 | chr22 | TogoVar | ||||||
NAGPA_chr16_5019844_5038935 | 5035034 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0087a0001c0001t0003g0111 | 2 | 442 | 0.0045 | 20 | c.-11 others(31): Show |
NAGPA | ENSG00000103174.13 | transcript | ENST00000312251.8 | protein_coding | 1100 | chr16 | TogoVar |