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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MOB3B_chr9_27320209_27534814 | 27357121 | A | AATATATA others(95): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0160 | a0001c0001t0160g0173 | 1 | 197 | 0.0051 | 102 | c.621 others(119): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27357121 | A | AATATATA others(95): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 197 | 0.0051 | 102 | c.621 others(119): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27357121 | A | AATATATA others(95): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0185 | a0001c0001t0185g0212 | 1 | 197 | 0.0051 | 102 | c.621 others(119): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27357121 | A | AATATATA others(95): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0145 | a0001c0001t0145g0088 | 1 | 197 | 0.0051 | 102 | c.621 others(119): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27357144 | A | ATGTATAT others(95): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 290 | 0.0034 | 102 | c.621 others(119): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOBP_chr3_39462680_39508027 | 39469180 | G | GTGTGTGT others(95): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 211 | 0.0047 | 102 | c.-89 others(119): Show |
MOBP | ENSG00000168314.19 | transcript | ENST00000684792.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432682 | A | AGAGATAA others(95): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18944.hp1 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0126 a0001c0001t0001g0216 a0001c0001t0002g0053 |
3 | 243 | 0.0123 | 102 | c.225 others(119): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432876 | A | AGAAAGGG others(95): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0228 | 1 | 131 | 0.0076 | 102 | c.225 others(119): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43495548 | G | GAGGTAGT others(95): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0007t0006 | a0001c0001t0006g0025 a0001c0007t0006g0191 |
2 | 248 | 0.0081 | 102 | c.633 others(119): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43496906 | G | GGTGATGG others(95): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0186 | 1 | 219 | 0.0046 | 102 | c.633 others(119): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43499998 | G | GTGGTGAT others(95): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 233 | 0.0043 | 102 | c.748 others(119): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRGPRG_chr11_3212944_3223813 | 3216168 | T | TCTGAGCC others(95): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 HG03239.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 292 | 0.0137 | 102 | c.*17 others(113): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1775 | chr11 | TogoVar | |||||||
MRGPRG_chr11_3212944_3223813 | 3216168 | T | TCTGAGCC others(95): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 89 | 377 | 0.2361 | 102 | c.*17 others(113): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1775 | chr11 | TogoVar | |||||||
MRGPRG_chr11_3212944_3223813 | 3216225 | C | CCCCCCAG others(95): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 318 | 0.0094 | 102 | c.*17 others(113): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1718 | chr11 | TogoVar | |||||||
MRLN_chr10_59731692_59758455 | 59745529 | T | TTCTTTTC others(95): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 416 | 0.0024 | 102 | c.-12 others(121): Show |
MRLN | ENSG00000227877.7 | transcript | ENST00000414264.6 | protein_coding | 1/2 | chr10 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144202945 | A | AGAGGGGC others(95): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 125 | 0.0080 | 102 | c.114 others(121): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH2A_chr2_233773330_233838418 | 233787925 | T | TATATATT others(95): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0078 | a0078c0059 | a0078c0059t0001 | a0078c0059t0001g0016 | 1 | 233 | 0.0043 | 102 | c.277 others(119): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPL45_chr17_38292168_38328211 | 38313311 | A | AAAATATA others(95): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0030 | 1 | 259 | 0.0039 | 102 | c.462 others(119): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40501469 | A | ACCTCCCG others(95): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03704.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0001a0001c0011t0001 | a0001c0002t0001g0094 a0001c0011t0001g0200 |
2 | 137 | 0.0146 | 102 | c.242 others(121): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40501469 | A | ACCTCCCG others(95): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0006 | 1 | 136 | 0.0074 | 102 | c.242 others(121): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537397 | C | CCCGTCCA others(95): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0157 | 1 | 254 | 0.0039 | 102 | c.241 others(121): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MSI2_chr17_57251523_57689689 | 57450303 | G | GAAAGAAA others(95): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0067 | 1 | 162 | 0.0062 | 102 | c.405 others(121): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MTERF3_chr8_96234402_96266610 | 96250663 | A | AAGGAGGA others(95): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 287 | 0.0035 | 102 | c.677 others(117): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTHFD1L_chr6_150860702_151106887 | 150994077 | A | AAAGAAAG others(95): Show |
intron_variant | MODIFIER | HG01952.hp2 NA18979.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004 | a0001c0001t0003g0149 a0001c0002t0004g0074 |
2 | 168 | 0.0119 | 102 | c.212 others(123): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150994077 | A | AAGAAAGA others(95): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0068 | 1 | 167 | 0.0060 | 102 | c.212 others(123): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTPN_chr7_135921760_135982359 | 135941380 | A | ACAATGGG others(95): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02257.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0025 | a0001c0003t0006g0295 a0001c0003t0006g0296 a0001c0003t0006g0297 others(2): Show |
5 | 264 | 0.0189 | 102 | c.270 others(119): Show |
MTPN | ENSG00000105887.11 | transcript | ENST00000393085.4 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99588734 | T | TATATATG others(95): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03209.hp2 NA20300.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0105 a0005c0005t0001g0125 a0005c0005t0001g0127 |
3 | 345 | 0.0087 | 102 | c.394 others(117): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 28990861 | A | AGGGTCTG others(95): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0010 | a0010c0013 | a0010c0013t0002 | a0010c0013t0002g0055 | 1 | 90 | 0.0111 | 102 | c.-24 others(123): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MUC12_chr7_100964565_101023936 | 101018217 | T | TTCCCTTC others(95): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0150 | a0001c0150t0001 | a0001c0150t0001g0071 | 1 | 34 | 0.0294 | 102 | c.159 others(121): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MUC17_chr7_101015081_101063859 | 101018217 | T | TTCCCTTC others(95): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG01175.hp1 others(15): Show |
a0001a0002a0004others(7): Show | a0001c0002a0001c0005a0002c0001others(9): Show | a0001c0002t0001a0001c0005t0001a0002c0001t0002others(10): Show | a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0005t0001g0242 others(14): Show |
18 | 75 | 0.2400 | 102 | c.-19 others(113): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 1863 | chr7 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195767748 | C | CCACCATC others(95): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0059 | a0059c0148 | a0059c0148t0012 | a0059c0148t0012g0236 | 1 | 244 | 0.0041 | 102 | c.135 others(121): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110690139 | G | GAAATATA others(95): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01884.hp1 HG02258.hp1 others(15): Show |
a0001a0002a0006 | a0001c0001a0002c0004a0006c0008 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(6): Show | a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0006g0136 others(15): Show |
18 | 215 | 0.0837 | 102 | c.358 others(119): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MXRA7_chr17_76674566_76715965 | 76702870 | T | TACGTATA others(95): Show |
intron_variant | MODIFIER | HG03209.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0143 a0001c0001t0005g0145 |
2 | 414 | 0.0048 | 102 | c.342 others(119): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76702877 | A | ATATATAT others(95): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 344 | 0.0029 | 102 | c.342 others(119): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672082 | T | TGTGAATA others(95): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 2 | 321 | 0.0062 | 102 | c.-17 others(113): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1741 | chr19 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 109023691 | A | ATATGTAT others(95): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03490.hp2 NA20752.hp1 |
a0001a0007a0013 | a0001c0017a0007c0014a0013c0011 | a0001c0017t0020a0007c0014t0002a0013c0011t0001 | a0001c0017t0020g0111 a0007c0014t0002g0054 a0013c0011t0001g0121 |
3 | 150 | 0.0200 | 102 | c.279 others(121): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282928 | G | GGAGGGGG others(95): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 161 | 0.0062 | 102 | c.4-1 others(117): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543678 | G | GTGGTGGT others(95): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0316 | 1 | 333 | 0.0030 | 102 | c.152 others(119): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543687 | G | GTGGTGCT others(95): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0003a0001c0010t0003 | a0001c0001t0003g0117 a0001c0010t0003g0275 |
2 | 322 | 0.0062 | 102 | c.152 others(119): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543801 | C | CTGCTGGT others(95): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0225 | 1 | 209 | 0.0048 | 102 | c.152 others(119): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543894 | G | GTGGTGCT others(95): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 329 | 0.0030 | 102 | c.152 others(119): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57678666 | A | AAAACTCT others(95): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0150 | 1 | 350 | 0.0029 | 102 | c.130 others(121): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 174987827 | T | TATATATA others(95): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0012 | a0012c0017 | a0012c0017t0006 | a0012c0017t0006g0025 | 1 | 47 | 0.0213 | 102 | c.44- others(121): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAB1_chr2_190644083_190697766 | 190690011 | T | TCTATACA others(95): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0239 a0001c0001t0001g0240 others(1): Show |
7 | 363 | 0.0193 | 102 | c.137 others(119): Show |
NAB1 | ENSG00000138386.17 | transcript | ENST00000337386.10 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NAB1_chr2_190644083_190697766 | 190690011 | T | TCTATACA others(95): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0212 |
2 | 358 | 0.0056 | 102 | c.137 others(119): Show |
NAB1 | ENSG00000138386.17 | transcript | ENST00000337386.10 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NAB1_chr2_190644083_190697766 | 190690012 | C | CTATACAT others(95): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 18 | 0.0556 | 102 | c.137 others(119): Show |
NAB1 | ENSG00000138386.17 | transcript | ENST00000337386.10 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NAB1_chr2_190644083_190697766 | 190690012 | C | CTATACAT others(95): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 18 | 0.0556 | 102 | c.137 others(119): Show |
NAB1 | ENSG00000138386.17 | transcript | ENST00000337386.10 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NAB1_chr2_190644083_190697766 | 190690012 | C | CTATACAT others(95): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0016 others(28): Show |
51 | 68 | 0.7500 | 102 | c.137 others(119): Show |
NAB1 | ENSG00000138386.17 | transcript | ENST00000337386.10 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21265015 | T | TTATATAT others(95): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18955.hp2 NA18979.hp1 others(1): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0019a0002c0003t0005others(1): Show | a0002c0002t0001g0078 a0002c0002t0019g0034 a0002c0003t0005g0008 others(1): Show |
4 | 12 | 0.3333 | 102 | c.56- others(119): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21331565 | A | ATATATAT others(95): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0100 | 1 | 132 | 0.0076 | 102 | c.738 others(119): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |