| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LYAR_chr4_4262701_4295154 | 4263838 | C | CCTTTCTT others(341): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 436 | 0.0023 | 348 | c.*40 others(359): Show |
LYAR | ENSG00000145220.14 | transcript | ENST00000343470.9 | protein_coding | 3862 | chr4 | TogoVar | ||||||
| LYZL4_chr3_42392083_42415610 | 42395606 | T | TGAGGGGA others(341): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 396 | 0.0025 | 348 | c.*16 others(359): Show |
LYZL4 | ENSG00000157093.9 | transcript | ENST00000287748.8 | protein_coding | 1476 | chr3 | TogoVar | ||||||
| MAN2B2_chr4_6570189_6628362 | 6579131 | A | ACCACCAT others(341): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 362 | 0.0028 | 348 | c.391 others(363): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MAP1B_chr5_72102475_72214565 | 72117121 | T | TGAAAAAT others(341): Show |
intron_variant | MODIFIER | HG00642.hp2 NA18978.hp1 NA19057.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003 | a0001c0001t0004g0299a0001c0002t0003g0004a0001c0002t0003g0300 | 4 | 342 | 0.0117 | 348 | c.286 others(365): Show |
MAP1B | ENSG00000131711.15 | transcript | ENST00000296755.12 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MAP3K15_chrX_19355059_19520508 | 19478040 | A | AGGGGGAG others(341): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0016 | a0016c0015 | a0016c0015t0001 | a0016c0015t0001g0096 | 1 | 163 | 0.0061 | 348 | c.525 others(365): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
| MAP3K21_chr1_233322724_233390148 | 233383384 | T | TAAAAGCT others(341): Show |
3_prime_UTR_variant | MODIFIER | NA18960.hp1 NA19010.hp2 NA19077.hp2 |
a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0011a0002c0002t0020g0161a0002c0002t0020g0174 | 3 | 372 | 0.0081 | 348 | c.*68 others(357): Show |
MAP3K21 | ENSG00000143674.11 | transcript | ENST00000366624.8 | protein_coding | 10/10 | 688 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| MBP_chr18_76973833_77137783 | 77130404 | T | TGAAGATA others(341): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 396 | 0.0025 | 348 | c.-26 others(365): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
| MCC_chr5_113017106_113493453 | 113333800 | T | TGTATATA others(341): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0005 | a0005c0033 | a0005c0033t0016 | a0005c0033t0016g0005 | 1 | 160 | 0.0063 | 348 | c.627 others(365): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
| MGRN1_chr16_4619826_4695972 | 4648839 | C | CGGGGACT others(341): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0002 | 1 | 334 | 0.0030 | 348 | c.89- others(363): Show |
MGRN1 | ENSG00000102858.13 | transcript | ENST00000262370.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MIA3_chr1_222613097_222673007 | 222645833 | T | TGTGTTGG others(341): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0149 | 1 | 370 | 0.0027 | 348 | c.360 others(365): Show |
MIA3 | ENSG00000154305.18 | transcript | ENST00000344922.10 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MIEN1_chr17_39723510_39735532 | 39735372 | T | TTTTTTTT others(341): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 364 | 0.0028 | 348 | c.-48 others(359): Show |
MIEN1 | ENSG00000141741.12 | transcript | ENST00000394231.8 | protein_coding | 4841 | chr17 | TogoVar | ||||||
| MINAR1_chr15_79427336_79477304 | 79438832 | G | GGGTGGAT others(341): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0221 | 1 | 390 | 0.0026 | 348 | c.-51 others(365): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
| MMP26_chr11_4699784_4997429 | 4729984 | A | ACAGCCCT others(341): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 206 | 0.0049 | 348 | c.-21 others(369): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MON1A_chr3_49903873_49934811 | 49913640 | T | TTAGTGTA others(341): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 | 1 | 262 | 0.0038 | 348 | c.-13 others(363): Show |
MON1A | ENSG00000164077.15 | transcript | ENST00000296473.8 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
| MOSPD2_chrX_14868421_14927327 | 14899114 | T | TGAACTAG others(341): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 268 | 0.0037 | 348 | c.478 others(365): Show |
MOSPD2 | ENSG00000130150.12 | transcript | ENST00000380492.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| MPPED1_chr22_43407014_43512848 | 43500173 | A | AGGTGGCA others(341): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0230 | 1 | 250 | 0.0040 | 348 | c.748 others(365): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MRPS35_chr12_27705832_27761295 | 27748584 | T | TTAAAATG others(341): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 358 | 0.0028 | 348 | c.703 others(365): Show |
MRPS35 | ENSG00000061794.13 | transcript | ENST00000081029.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MSH4_chr1_75791882_75918242 | 75885916 | A | ATATATAT others(341): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18960.hp1 NA18984.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0278a0001c0002t0001g0294a0001c0002t0001g0295others(2): Show | 5 | 332 | 0.0151 | 348 | c.210 others(367): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MSR1_chr8_16102881_16197651 | 16189541 | T | TTATATAT others(341): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0010a0001c0001t0010g0012 | 2 | 330 | 0.0061 | 348 | c.-5+ others(363): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
| MTTP_chr4_99569824_99628997 | 99588815 | A | ACATATAT others(341): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0168 | 1 | 364 | 0.0028 | 348 | c.394 others(363): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99588815 | A | ACATATAT others(341): Show |
intron_variant | MODIFIER | HG03704.hp2 NA19058.hp1 NA19089.hp2 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0009 | a0003c0003t0001g0156a0003c0003t0001g0265a0003c0003t0009g0125 | 3 | 364 | 0.0082 | 348 | c.394 others(363): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99588815 | A | ACATATAT others(341): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0143 | 1 | 364 | 0.0028 | 348 | c.394 others(363): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MYDGF_chr19_4652545_4675342 | 4663119 | T | TCATCCTC others(341): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0081 | 1 | 410 | 0.0024 | 348 | c.287 others(365): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
| MYL2_chr12_110905845_110925579 | 110905917 | A | ATATAAAA others(341): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 368 | 0.0027 | 348 | c.*51 others(359): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4927 | chr12 | TogoVar | ||||||
| NAALADL2_chr3_174854334_175815548 | 175670512 | A | AATTTATA others(341): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0006 | a0006c0010 | a0006c0010t0019 | a0006c0010t0019g0016 | 1 | 64 | 0.0156 | 348 | c.189 others(369): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NAALADL2_chr3_174854334_175815548 | 175670512 | A | AATTTATA others(341): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0062 | 1 | 64 | 0.0156 | 348 | c.189 others(369): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NALCN_chr13_101048776_101421508 | 101099062 | T | TAGGCCAC others(341): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0089 | 1 | 176 | 0.0057 | 348 | c.316 others(367): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 27/43 | chr13 | TogoVar | ||||||
| NAV2_chr11_19707837_20126601 | 19941447 | T | TAATAAAT others(341): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0013 | a0013c0057 | a0013c0057t0008 | a0013c0057t0008g0093 | 1 | 166 | 0.0060 | 348 | c.214 others(367): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NAV2_chr11_19707837_20126601 | 19941447 | T | TAATAAAT others(341): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03209.hp2 HG03516.hp1 others(1): Show |
a0001a0003a0019 | a0001c0053a0001c0054a0003c0088others(1): Show | a0001c0053t0010a0001c0054t0005a0003c0088t0002others(1): Show | a0001c0053t0010g0163a0001c0054t0005g0083a0003c0088t0002g0069others(1): Show | 4 | 166 | 0.0241 | 348 | c.214 others(367): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NBPF10_chr1_146059711_146149804 | 146109343 | C | CACACACA others(341): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0102 | a0102c0114 | a0102c0114t0002 | a0102c0114t0002g0093 | 1 | 283 | 0.0035 | 348 | c.450 others(365): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 35/89 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146114061 | C | CACATACA others(341): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0103 | a0103c0142 | a0103c0142t0002 | a0103c0142t0002g0094 | 1 | 283 | 0.0035 | 348 | c.376 others(365): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 29/89 | chr1 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158668243 | T | TCCTTACC others(341): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0369 | 1 | 378 | 0.0027 | 348 | c.147 others(367): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
| NFIB_chr9_14076848_14319141 | 14285914 | T | TGAGGCTC others(341): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0061 | a0001c0001t0017g0009a0001c0001t0017g0073a0001c0001t0061g0090 | 3 | 304 | 0.0099 | 348 | c.562 others(367): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
| NFILZ_chr19_8625633_8686151 | 8663394 | A | ATGGAACT others(341): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0362 | 1 | 366 | 0.0027 | 348 | c.-16 others(369): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8663415 | G | GTGGGGAA others(341): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG02083.hp1 others(7): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0013 | a0001c0001t0001a0001c0001t0013a0001c0001t0021others(6): Show | a0001c0001t0001g0364a0001c0001t0013g0191a0001c0001t0021g0363others(7): Show | 10 | 366 | 0.0273 | 348 | c.-16 others(369): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8663415 | G | GTGGGGAA others(341): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0294 | 1 | 366 | 0.0027 | 348 | c.-16 others(369): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8663434 | A | AGCTGGTG others(341): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0003 | a0003c0003 | a0003c0003t0073 | a0003c0003t0073g0080 | 1 | 366 | 0.0027 | 348 | c.-16 others(369): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8663492 | C | CGCTGGTG others(341): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0003 | a0003c0003 | a0003c0003t0065 | a0003c0003t0065g0142 | 1 | 366 | 0.0027 | 348 | c.-16 others(369): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NLRP14_chr11_7015479_7076526 | 7071557 | T | TAAGAATG others(341): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 HG03195.hp2 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0043a0001c0001t0001g0112others(1): Show | 4 | 346 | 0.0116 | 348 | c.*24 others(357): Show |
NLRP14 | ENSG00000158077.5 | transcript | ENST00000299481.5 | protein_coding | 32 | chr11 | TogoVar | ||||||
| NLRP8_chr19_55942832_55993629 | 55993473 | C | CCCTCTCC others(341): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0000 | a0000c0008 | a0000c0008t0011 | a0000c0008t0011g0072 | 1 | 350 | 0.0029 | 348 | c.*55 others(359): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4845 | chr19 | TogoVar | ||||||
| NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(341): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 | 1 | 356 | 0.0028 | 348 | c.91+ others(361): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(341): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 356 | 0.0028 | 348 | c.91+ others(361): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NME4_chr16_392199_405754 | 397709 | T | TGGGGGGG others(341): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0289 | 1 | 356 | 0.0028 | 348 | c.91+ others(361): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NRIP1_chr21_14956235_15070000 | 14980613 | T | TGATCAAT others(341): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 398 | 0.0025 | 348 | c.-33 others(369): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
| NRIP1_chr21_14956235_15070000 | 15030864 | C | CTTCTATG others(341): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 398 | 0.0025 | 348 | c.-45 others(369): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
| NRIP1_chr21_14956235_15070000 | 15031103 | C | CACATTCC others(341): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0155 | 1 | 398 | 0.0025 | 348 | c.-45 others(369): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
| NTM_chr11_131365615_132341822 | 131681095 | G | GTGAGATC others(341): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01081.hp2 HG01255.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0012others(23): Show | 26 | 86 | 0.3023 | 348 | c.83- others(367): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NUP93_chr16_56725129_56855286 | 56808192 | A | ATAACTAT others(341): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0288 | 1 | 378 | 0.0027 | 348 | c.489 others(365): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NUP93_chr16_56725129_56855286 | 56808192 | A | ATAACTAT others(341): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18612.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0263a0001c0003t0002g0279 | 2 | 378 | 0.0053 | 348 | c.489 others(365): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NUP93_chr16_56725129_56855286 | 56808192 | A | ATAACTAT others(341): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0293 | 1 | 378 | 0.0027 | 348 | c.489 others(365): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |