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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTERF3_chr8_96234402_96266610 | 96250708 | A | AGGGGGGA others(45): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 294 | 0.0034 | 52 | c.677 others(67): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTHFD1L_chr6_150860702_151106887 | 150932812 | G | GAAGGAGG others(45): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02630.hp1 HG02896.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0004t0006 | a0001c0001t0002g0004 a0001c0001t0003g0144 a0001c0004t0006g0163 |
3 | 226 | 0.0133 | 52 | c.125 others(71): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1_chr14_64383353_64465025 | 64429261 | A | AACATATA others(45): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0204 | 1 | 342 | 0.0029 | 52 | c.126 others(69): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTSS1_chr8_124545784_124733473 | 124602188 | C | CATATATA others(45): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 286 | 0.0035 | 52 | c.209 others(71): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124602188 | C | CATATATA others(45): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 286 | 0.0035 | 52 | c.209 others(71): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124602188 | C | CATATATA others(45): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 286 | 0.0035 | 52 | c.209 others(71): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MUC12_chr7_100964565_101023936 | 100966141 | A | ACCTTGCC others(45): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0038 | a0038c0018 | a0038c0018t0001 | a0038c0018t0001g0126 | 1 | 342 | 0.0029 | 52 | c.-34 others(63): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 3423 | chr7 | TogoVar | |||||||
MUC12_chr7_100964565_101023936 | 100966141 | A | ACCTTGCC others(45): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
a0001a0002a0003others(122): Show | a0001c0001a0001c0006a0001c0021others(280): Show | a0001c0001t0001a0001c0006t0001a0001c0021t0001others(281): Show | a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0197 others(322): Show |
337 | 342 | 0.9854 | 52 | c.-34 others(63): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 3423 | chr7 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195816133 | T | TCCGCCCT others(45): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 HG03041.hp2 NA18906.hp2 others(1): Show |
a0025a0096a0123 | a0025c0021a0096c0199a0123c0171 | a0025c0021t0004a0096c0199t0009a0123c0171t0005 | a0025c0021t0004g0245 a0025c0021t0004g0246 a0096c0199t0009g0243 others(1): Show |
4 | 249 | 0.0161 | 52 | c.-43 others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4205 | chr3 | TogoVar | |||||||
MUL1_chr1_20494448_20513151 | 20498394 | T | TATGAATT others(45): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00673.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0014 | a0001c0001t0004g0033 a0001c0001t0005g0006 a0001c0001t0005g0016 others(2): Show |
25 | 444 | 0.0563 | 52 | c.*22 others(63): Show |
MUL1 | ENSG00000090432.7 | transcript | ENST00000264198.5 | protein_coding | 1053 | chr1 | TogoVar | |||||||
MVP_chr16_29815462_29853021 | 29843550 | G | GAGGAAGG others(45): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 230 | 0.0044 | 52 | c.163 others(69): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3325805 | C | CATATATT others(45): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0008 | a0008c0013 | a0008c0013t0002 | a0008c0013t0002g0185 | 1 | 284 | 0.0035 | 52 | c.710 others(67): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MYBPC3_chr11_47326406_47357702 | 47348908 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 374 | 0.0027 | 52 | c.655 others(67): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672159 | A | ATATATAT others(45): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 410 | 0.0024 | 52 | c.-18 others(63): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1818 | chr19 | TogoVar | |||||||
MYL10_chr7_101608330_101634296 | 101609681 | C | CTTCCTCC others(45): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 398 | 0.0025 | 52 | c.*37 others(63): Show |
MYL10 | ENSG00000106436.8 | transcript | ENST00000223167.5 | protein_coding | 3648 | chr7 | TogoVar | |||||||
MYL12B_chr18_3257133_3283461 | 3272251 | A | AAATGAGG others(45): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 a0001c0001t0002g0097 a0001c0001t0002g0098 |
4 | 430 | 0.0093 | 52 | c.-15 others(67): Show |
MYL12B | ENSG00000118680.14 | transcript | ENST00000237500.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MYL12B_chr18_3257133_3283461 | 3272251 | A | AATTGAGG others(45): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(388): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(127): Show |
391 | 430 | 0.9093 | 52 | c.-15 others(67): Show |
MYL12B | ENSG00000118680.14 | transcript | ENST00000237500.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MYL12B_chr18_3257133_3283461 | 3281910 | T | TTTCCTTC others(45): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0131 |
2 | 430 | 0.0047 | 52 | c.*39 others(63): Show |
MYL12B | ENSG00000118680.14 | transcript | ENST00000237500.10 | protein_coding | 3450 | chr18 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 109023403 | A | ATATATTA others(45): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0020 | a0020c0062 | a0020c0062t0014 | a0020c0062t0014g0128 | 1 | 152 | 0.0066 | 52 | c.279 others(71): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282927 | G | GGGAGGGG others(45): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0070 | 1 | 226 | 0.0044 | 52 | c.4-1 others(67): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109443040 | G | GTGTATAC others(45): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02723.hp2 HG03195.hp1 others(2): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0002 | a0001c0003t0002a0001c0004t0009a0003c0002t0002 | a0001c0003t0002g0271 a0001c0003t0002g0277 a0001c0004t0009g0216 others(2): Show |
5 | 312 | 0.0160 | 52 | c.268 others(69): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109443040 | G | GTGTGTAT others(45): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0285 | 1 | 312 | 0.0032 | 52 | c.268 others(69): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26075681 | C | CTCTCTCA others(45): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0004 | a0004c0017 | a0004c0017t0011 | a0004c0017t0011g0025 | 1 | 280 | 0.0036 | 52 | c.135 others(71): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75924184 | G | GGTTCCTA others(45): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0131 | a0001c0001t0131g0278 | 1 | 358 | 0.0028 | 52 | c.*91 others(63): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 4648 | chr6 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2081008 | T | TGGTTTGG others(45): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(133): Show |
a0001a0002a0005others(34): Show | a0001c0002a0001c0003a0001c0009others(77): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(85): Show | a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0097 others(132): Show |
136 | 403 | 0.3375 | 52 | c.151 others(71): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2081114 | G | GTTGGTTC others(45): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 |
a0002a0062 | a0002c0099a0062c0120 | a0002c0099t0001a0062c0120t0001 | a0002c0099t0001g0208 a0062c0120t0001g0343 |
2 | 403 | 0.0050 | 52 | c.151 others(71): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085544 | C | CCCCTACT others(45): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0261 | 1 | 403 | 0.0025 | 52 | c.164 others(69): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100101 | C | CTTCTTTC others(45): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG03710.hp1 |
a0002a0004a0046 | a0002c0015a0004c0161a0046c0088 | a0002c0015t0001a0004c0161t0001a0046c0088t0002 | a0002c0015t0001g0039 a0004c0161t0001g0041 a0046c0088t0002g0228 |
3 | 403 | 0.0074 | 52 | c.244 others(69): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100117 | C | CTTCCTTC others(45): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0374 | 1 | 403 | 0.0025 | 52 | c.244 others(69): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100121 | C | CTTCTTTC others(45): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01257.hp2 HG01928.hp2 others(10): Show |
a0002a0005a0007others(7): Show | a0002c0006a0005c0144a0007c0017others(9): Show | a0002c0006t0001a0005c0144t0001a0007c0017t0001others(9): Show | a0002c0006t0001g0120 a0005c0144t0001g0255 a0007c0017t0001g0100 others(10): Show |
13 | 403 | 0.0323 | 52 | c.244 others(69): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2120685 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG01069.hp1 HG03492.hp2 |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0001a0004c0007t0001 | a0001c0002t0001g0097 a0004c0007t0001g0263 |
2 | 403 | 0.0050 | 52 | c.345 others(71): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69877001 | G | GTCTTTCT others(45): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01358.hp2 NA18951.hp2 others(1): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0320 a0001c0003t0001g0309 a0002c0002t0002g0122 others(1): Show |
4 | 322 | 0.0124 | 52 | c.138 others(69): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891635 | C | CTCTTTCT others(45): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0107 | 1 | 322 | 0.0031 | 52 | c.903 others(67): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891637 | T | TTCTCTTT others(45): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0012 | a0012c0031 | a0012c0031t0001 | a0012c0031t0001g0218 | 1 | 322 | 0.0031 | 52 | c.903 others(67): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891637 | T | TTTTCTTT others(45): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0178 | 1 | 322 | 0.0031 | 52 | c.903 others(67): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40192311 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 170 | 0.0059 | 52 | c.166 others(71): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40192313 | T | TATATATG others(45): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02809.hp1 HG03492.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0059 others(6): Show |
9 | 170 | 0.0529 | 52 | c.166 others(71): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0274 | 1 | 410 | 0.0024 | 52 | c.68+ others(67): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2035078 | A | AACAATCT others(45): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0076 | 1 | 104 | 0.0096 | 52 | c.-15 others(73): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2035342 | A | AACCATCT others(45): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0092 | 1 | 104 | 0.0096 | 52 | c.-15 others(73): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2035448 | A | AACAATCT others(45): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 104 | 0.0096 | 52 | c.-15 others(73): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64201982 | C | CCGCGTGT others(45): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 223 | 0.0045 | 52 | c.86+ others(67): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57593188 | G | GCATGCGC others(45): Show |
intron_variant | MODIFIER | HG02040.hp2 NA19076.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | 352 | 0.0057 | 52 | c.75+ others(67): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175670512 | A | AATTTATA others(45): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02109.hp2 HG02717.hp2 others(3): Show |
a0001a0004a0007 | a0001c0001a0001c0013a0004c0002others(1): Show | a0001c0001t0002a0001c0001t0031a0001c0013t0007others(3): Show | a0001c0001t0002g0032 a0001c0001t0031g0026 a0001c0013t0007g0021 others(3): Show |
6 | 64 | 0.0938 | 52 | c.189 others(73): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175697837 | T | TTATGTAT others(45): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0015 | a0015c0021 | a0015c0021t0003 | a0015c0021t0003g0042 | 1 | 64 | 0.0156 | 52 | c.189 others(73): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175698425 | G | GTATGTGT others(45): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02895.hp1 HG02965.hp2 others(1): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0002a0008c0019others(1): Show | a0001c0001t0035a0004c0002t0006a0008c0019t0017others(1): Show | a0001c0001t0035g0027 a0004c0002t0006g0039 a0008c0019t0017g0004 others(1): Show |
4 | 64 | 0.0625 | 52 | c.189 others(73): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175698425 | G | GTATGTGT others(45): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0012 | a0012c0017 | a0012c0017t0007 | a0012c0017t0007g0025 | 1 | 64 | 0.0156 | 52 | c.189 others(73): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136031981 | A | ATAAATGA others(45): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0347 | 1 | 348 | 0.0029 | 52 | c.887 others(71): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136032006 | T | TCCTCTGC others(45): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02970.hp2 HG03130.hp1 others(2): Show |
a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0004 a0002c0006t0006g0050 a0002c0006t0006g0051 others(2): Show |
5 | 348 | 0.0144 | 52 | c.887 others(71): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
NAP1L5_chr4_88690913_88702829 | 88699308 | C | CACCCCAC others(45): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 414 | 0.0024 | 52 | c.-15 others(63): Show |
NAP1L5 | ENSG00000177432.8 | transcript | ENST00000323061.7 | protein_coding | 1480 | chr4 | TogoVar |