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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MZT2B_chr2_130177262_130195727 | 130185566 | GTAACAAG others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(179): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(46): Show |
182 | 408 | 0.4461 | -13 | c.319 others(30): Show |
MZT2B | ENSG00000152082.15 | transcript | ENST00000281871.11 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
N4BP1_chr16_48533726_48615180 | 48552699 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG02273.hp2 HG02615.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(2): Show | a0001c0001t0001g0068 a0001c0001t0002g0209 a0001c0001t0013g0036 others(2): Show |
5 | 324 | 0.0154 | -13 | c.202 others(30): Show |
N4BP1 | ENSG00000102921.8 | transcript | ENST00000262384.4 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
N4BP1_chr16_48533726_48615180 | 48610860 | TAAAAAAA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 324 | 0.0031 | -13 | c.-90 others(22): Show |
N4BP1 | ENSG00000102921.8 | transcript | ENST00000262384.4 | protein_coding | 681 | chr16 | TogoVar | |||||||
N4BP2_chr4_40051850_40163252 | 40053441 | TTTTTTTT others(6): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02647.hp2 HG03225.hp1 others(4): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0030a0006c0006t0021a0006c0006t0029 | a0001c0001t0030g0251 a0001c0001t0030g0252 a0001c0001t0030g0253 others(4): Show |
7 | 366 | 0.0191 | -13 | c.-38 others(24): Show |
N4BP2 | ENSG00000078177.15 | transcript | ENST00000261435.11 | protein_coding | 3408 | chr4 | TogoVar | |||||||
N4BP2_chr4_40051850_40163252 | 40083125 | AAAAAGGA others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(123): Show |
a0001a0005a0009others(4): Show | a0001c0001a0005c0005a0009c0009others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(24): Show | a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0294 others(121): Show |
126 | 366 | 0.3443 | -13 | c.-11 others(32): Show |
N4BP2 | ENSG00000078177.15 | transcript | ENST00000261435.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
N4BP3_chr5_178108532_178131081 | 178113654 | ACCCGGCA others(6): Show |
A | 5_prime_UTR_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0099 | 1 | 436 | 0.0023 | -13 | c.-14 others(22): Show |
N4BP3 | ENSG00000145911.6 | transcript | ENST00000274605.6 | protein_coding | 1/5 | 5911 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
N4BP3_chr5_178108532_178131081 | 178116182 | ACAGCTGC others(6): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(289): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0005a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0115 others(97): Show |
292 | 436 | 0.6697 | -13 | c.-31 others(30): Show |
N4BP3 | ENSG00000145911.6 | transcript | ENST00000274605.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NAA10_chrX_153924225_153940037 | 153938783 | TTTTTTTT others(6): Show |
T | upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 292 | 0.0034 | -13 | c.-38 others(24): Show |
NAA10 | ENSG00000102030.16 | transcript | ENST00000464845.6 | protein_coding | 3747 | chrX | TogoVar | |||||||
NAA15_chr4_139296505_139396384 | 139308524 | TAACAAAA others(6): Show |
T | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0266 | 1 | 334 | 0.0030 | -13 | c.54+ others(28): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NAA15_chr4_139296505_139396384 | 139332572 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0214 a0001c0001t0027g0213 |
2 | 334 | 0.0060 | -13 | c.55- others(28): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NAA15_chr4_139296505_139396384 | 139395375 | AGGTTCCT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 334 | 0.0030 | -13 | c.*72 others(24): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 3992 | chr4 | TogoVar | |||||||
NAA16_chr13_41306267_41382030 | 41340647 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG03669.hp1 HG03688.hp2 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0004a0009c0008t0026 | a0001c0001t0004g0075 a0009c0008t0026g0078 |
2 | 354 | 0.0057 | -13 | c.101 others(32): Show |
NAA16 | ENSG00000172766.19 | transcript | ENST00000379406.8 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NAA25_chr12_112021689_112113783 | 112059075 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0115 a0003c0003t0001g0116 |
2 | 342 | 0.0059 | -13 | c.144 others(32): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 13/23 | chr12 | TogoVar | |||||||
NAA25_chr12_112021689_112113783 | 112074341 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 342 | 0.0029 | -13 | c.866 others(28): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 9/23 | chr12 | TogoVar | |||||||
NAA60_chr16_3438680_3491953 | 3489112 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp2 others(66): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(6): Show | a0001c0001t0002g0294 a0001c0002t0002g0005 a0001c0002t0002g0014 others(62): Show |
69 | 376 | 0.1835 | -13 | c.*38 others(24): Show |
NAA60 | ENSG00000122390.19 | transcript | ENST00000407558.9 | protein_coding | 2160 | chr16 | TogoVar | |||||||
NAA60_chr16_3438680_3491953 | 3490397 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0316 a0001c0001t0008g0317 a0001c0001t0008g0332 |
3 | 376 | 0.0080 | -13 | c.*51 others(24): Show |
NAA60 | ENSG00000122390.19 | transcript | ENST00000407558.9 | protein_coding | 3445 | chr16 | TogoVar | |||||||
NAA80_chr3_50291402_50304405 | 50304291 | AAAAAAAT others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | -13 | c.-53 others(24): Show |
NAA80 | ENSG00000243477.6 | transcript | ENST00000443094.3 | protein_coding | 4887 | chr3 | TogoVar | |||||||
NAAA_chr4_75908660_75946013 | 75916778 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 400 | 0.0025 | -13 | c.999 others(30): Show |
NAAA | ENSG00000138744.16 | transcript | ENST00000286733.9 | protein_coding | 9/10 | chr4 | TogoVar | |||||||
NAAA_chr4_75908660_75946013 | 75942304 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 400 | 0.0025 | -13 | c.-13 others(24): Show |
NAAA | ENSG00000138744.16 | transcript | ENST00000286733.9 | protein_coding | 1292 | chr4 | TogoVar | |||||||
NAALAD2_chr11_90129663_90197894 | 90138725 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(56): Show |
a0001a0003a0014 | a0001c0002a0001c0015a0003c0004others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(4): Show | a0001c0002t0001g0007 a0001c0002t0001g0186 a0001c0002t0001g0187 others(54): Show |
59 | 364 | 0.1621 | -13 | c.194 others(30): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAALAD2_chr11_90129663_90197894 | 90177586 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(38): Show |
a0001a0003a0014 | a0001c0002a0001c0006a0001c0015others(2): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(8): Show | a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0210 others(37): Show |
41 | 364 | 0.1126 | -13 | c.159 others(30): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAALADL1_chr11_65039818_65063553 | 65043615 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG01884.hp2 others(16): Show |
a0001a0006 | a0001c0001a0001c0018a0006c0008 | a0001c0001t0001a0001c0018t0001a0006c0008t0001 | a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0032 others(8): Show |
19 | 372 | 0.0511 | -13 | c.*16 others(24): Show |
NAALADL1 | ENSG00000168060.16 | transcript | ENST00000358658.8 | protein_coding | 1202 | chr11 | TogoVar | |||||||
NAALADL1_chr11_65039818_65063553 | 65051315 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0121 |
2 | 372 | 0.0054 | -13 | c.119 others(32): Show |
NAALADL1 | ENSG00000168060.16 | transcript | ENST00000358658.8 | protein_coding | 8/17 | chr11 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 174885876 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 HG02965.hp1 others(1): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0004a0004c0008others(1): Show | a0001c0001t0037a0003c0004t0001a0004c0008t0027others(1): Show | a0001c0001t0037g0038 a0003c0004t0001g0044 a0004c0008t0027g0051 others(1): Show |
4 | 64 | 0.0625 | -13 | c.43+ others(30): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 174894594 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp2 |
a0004a0007a0010 | a0004c0002a0007c0012a0010c0015 | a0004c0002t0008a0007c0012t0029a0010c0015t0002 | a0004c0002t0008g0006 a0007c0012t0029g0024 a0010c0015t0002g0005 |
3 | 64 | 0.0469 | -13 | c.43+ others(30): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 174987568 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02615.hp1 NA18522.hp1 NA18906.hp2 others(1): Show |
a0003a0004a0006 | a0003c0005a0004c0002a0006c0009 | a0003c0005t0008a0003c0005t0032a0004c0002t0006others(1): Show | a0003c0005t0008g0007 a0003c0005t0032g0050 a0004c0002t0006g0039 others(1): Show |
4 | 64 | 0.0625 | -13 | c.44- others(32): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175004376 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG03486.hp2 others(1): Show |
a0001a0003a0005others(1): Show | a0001c0013a0003c0005a0005c0006others(1): Show | a0001c0013t0013a0003c0005t0005a0005c0006t0015others(1): Show | a0001c0013t0013g0018 a0003c0005t0005g0009 a0005c0006t0015g0008 others(1): Show |
4 | 64 | 0.0625 | -13 | c.44- others(30): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175199864 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0005 | a0003c0005t0023 | a0003c0005t0023g0045 | 1 | 64 | 0.0156 | -13 | c.546 others(32): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175243531 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG03209.hp2 |
a0003a0004 | a0003c0005a0004c0008 | a0003c0005t0011a0004c0008t0010 | a0003c0005t0011g0019 a0004c0008t0010g0036 |
2 | 64 | 0.0313 | -13 | c.819 others(30): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175353118 | GTGTGTGT others(6): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG02258.hp1 others(7): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0007others(5): Show | a0001c0001t0002a0001c0001t0022a0002c0003t0004others(7): Show | a0001c0001t0002g0032 a0001c0001t0022g0002 a0002c0003t0004g0020 others(7): Show |
10 | 64 | 0.1563 | -13 | c.109 others(34): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 175396295 | GCCATCTT others(6): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02258.hp1 NA19043.hp2 |
a0005a0007a0012 | a0005c0006a0007c0012a0012c0017 | a0005c0006t0001a0007c0012t0003a0012c0017t0007 | a0005c0006t0001g0057 a0007c0012t0003g0033 a0012c0017t0007g0025 |
3 | 64 | 0.0469 | -13 | c.109 others(34): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175592296 | CTTTTTCT others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00741.hp1 others(18): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0007others(9): Show | a0001c0001t0012a0002c0003t0001a0002c0003t0002others(18): Show | a0001c0001t0012g0031 a0002c0003t0001g0056 a0002c0003t0002g0017 others(18): Show |
21 | 64 | 0.3281 | -13 | c.180 others(34): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175737714 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0057 | 1 | 64 | 0.0156 | -13 | c.199 others(30): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175809510 | TTAAAAAA others(6): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 | a0011 | a0011c0020 | a0011c0020t0028 | a0011c0020t0028g0001 | 1 | 64 | 0.0156 | -13 | c.*63 others(24): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 14/14 | 6308 | chr3 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136024524 | TGTGTGTG others(6): Show |
T | intron_variant | MODIFIER | NA18943.hp2 NA18994.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0067 a0001c0005t0002g0204 |
2 | 348 | 0.0058 | -13 | c.887 others(30): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136083053 | GACGACCG others(6): Show |
G | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0022 | 1 | 348 | 0.0029 | -13 | c.-60 others(32): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
NADK2_chr5_36187589_36246925 | 36190683 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0208 | 1 | 384 | 0.0026 | -13 | c.*44 others(24): Show |
NADK2 | ENSG00000152620.13 | transcript | ENST00000381937.9 | protein_coding | 1905 | chr5 | TogoVar | |||||||
NADK2_chr5_36187589_36246925 | 36234372 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG01928.hp2 HG01943.hp1 others(35): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0001t0012a0001c0001t0013others(4): Show | a0001c0001t0005g0002 a0001c0001t0005g0011 a0001c0001t0005g0107 others(19): Show |
38 | 384 | 0.0990 | -13 | c.301 others(30): Show |
NADK2 | ENSG00000152620.13 | transcript | ENST00000381937.9 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
NADK_chr1_1746232_1783470 | 1766410 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp1 HG02976.hp2 others(1): Show |
a0002a0005a0008 | a0002c0005a0005c0009a0008c0014 | a0002c0005t0005a0005c0009t0005a0005c0009t0007others(1): Show | a0002c0005t0005g0299 a0005c0009t0005g0199 a0005c0009t0007g0197 others(1): Show |
4 | 414 | 0.0097 | -13 | c.-40 others(28): Show |
NADK | ENSG00000008130.15 | transcript | ENST00000341426.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
NADSYN1_chr11_71448203_71506816 | 71471940 | CTCTTGGT others(6): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02155.hp1 NA18942.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0001g0184 others(3): Show |
6 | 354 | 0.0170 | -13 | c.408 others(28): Show |
NADSYN1 | ENSG00000172890.13 | transcript | ENST00000319023.7 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAF1_chr4_163123669_163171890 | 163166023 | CAAAAGTA others(6): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0149 | 1 | 344 | 0.0029 | -13 | c.365 others(28): Show |
NAF1 | ENSG00000145414.9 | transcript | ENST00000274054.3 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
NAGA_chr22_42053334_42075812 | 42057893 | ATATATAT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 a0001c0001t0003g0026 |
2 | 418 | 0.0048 | -13 | c.*23 others(24): Show |
NAGA | ENSG00000198951.12 | transcript | ENST00000396398.8 | protein_coding | 440 | chr22 | TogoVar | |||||||
NAGA_chr22_42053334_42075812 | 42057897 | ATATATTT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0116 | 1 | 418 | 0.0024 | -13 | c.*23 others(24): Show |
NAGA | ENSG00000198951.12 | transcript | ENST00000396398.8 | protein_coding | 436 | chr22 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101052882 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01975.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0006t0003 | a0001c0001t0003g0020 a0001c0006t0003g0016 |
2 | 176 | 0.0114 | -13 | c.*24 others(24): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 893 | chr13 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101078217 | GGAGTCCA others(6): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(129): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0040 others(129): Show |
132 | 176 | 0.7500 | -13 | c.388 others(32): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 34/43 | chr13 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101276062 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 176 | 0.0057 | -13 | c.113 others(32): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 10/43 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107215373 | GGATTCTC others(6): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0063 a0001c0001t0002g0047 a0001c0001t0002g0058 others(18): Show |
21 | 128 | 0.1641 | -13 | c.916 others(30): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107322389 | GCTAATTT others(6): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 128 | 0.0078 | -13 | c.916 others(34): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107337043 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(49): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(46): Show | a0001c0001t0001g0041 a0001c0001t0001g0061 a0001c0001t0001g0063 others(49): Show |
52 | 128 | 0.4063 | -13 | c.916 others(34): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107507594 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0069a0001c0001t0075a0001c0002t0044others(1): Show | a0001c0001t0069g0031 a0001c0001t0075g0096 a0001c0002t0044g0079 others(1): Show |
4 | 128 | 0.0313 | -13 | c.916 others(34): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar |