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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAD1L1_chr7_1810795_2237945 | 1929998 | CCACTGCC others(48): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02976.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0246 a0001c0001t0006g0262 a0001c0001t0006g0263 |
3 | 264 | 0.0114 | -55 | c.180 others(74): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2035232 | AGTCCAGG others(48): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01074.hp2 others(46): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0145 others(46): Show |
49 | 264 | 0.1856 | -55 | c.121 others(76): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2035603 | CGGGACAG others(48): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02165.hp2 HG02280.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0090 a0001c0001t0001g0172 a0001c0001t0001g0174 others(6): Show |
9 | 264 | 0.0341 | -55 | c.121 others(76): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2036098 | TGGGACAG others(48): Show |
T | intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 264 | 0.0038 | -55 | c.121 others(76): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2104638 | CTGAAAAC others(48): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(74): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(8): Show | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0163 others(74): Show |
77 | 264 | 0.2917 | -55 | c.107 others(76): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 11/18 | chr7 | TogoVar | |||||||
MAGEB10_chrX_27802990_27828014 | 27809488 | CCCCCCGC others(48): Show |
C | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 250 | 0.0040 | -55 | c.-19 others(74): Show |
MAGEB10 | ENSG00000177689.10 | transcript | ENST00000356790.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MANBA_chr4_102625770_102765968 | 102756830 | TGCTTCAA others(48): Show |
T | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 280 | 0.0036 | -55 | c.177 others(72): Show |
MANBA | ENSG00000109323.11 | transcript | ENST00000647097.2 | protein_coding | 1/16 | chr4 | TogoVar | |||||||
MAP3K5_chr6_136552046_136797477 | 136559358 | ACAAAAAC others(48): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp2 others(21): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0110 others(21): Show |
24 | 162 | 0.1482 | -55 | c.398 others(72): Show |
MAP3K5 | ENSG00000197442.11 | transcript | ENST00000359015.5 | protein_coding | 28/29 | chr6 | TogoVar | |||||||
MARCHF4_chr2_216252865_216377483 | 216269217 | CTCTTACA others(48): Show |
C | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0290 | 1 | 330 | 0.0030 | -55 | c.865 others(72): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
MARCHF4_chr2_216252865_216377483 | 216370606 | TAGAGCCT others(48): Show |
T | 5_prime_UTR_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0010 | 1 | 330 | 0.0030 | -55 | c.-40 others(64): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 1/4 | 347 | chr2 | TogoVar | ||||||
MARCHF6_chr5_10348695_10445388 | 10435657 | ATATATAT others(48): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 HG02451.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0116a0001c0001t0117 | a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0149 others(7): Show |
10 | 284 | 0.0352 | -55 | c.*19 others(66): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1975 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MARCO_chr2_118937194_118999660 | 118986589 | GAAAGAAA others(48): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0001a0002c0006t0001 | a0001c0003t0001g0220 a0001c0003t0001g0222 a0002c0006t0001g0144 others(1): Show |
4 | 394 | 0.0102 | -55 | c.106 others(74): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | chr2 | TogoVar | |||||||
MARS1_chr12_57483068_57521652 | 57493434 | TATATTAC others(48): Show |
T | intron_variant | MODIFIER | NA18941.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0113 |
2 | 288 | 0.0069 | -55 | c.770 others(72): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MB21D2_chr3_192791815_192922856 | 192828591 | CATATATA others(48): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 298 | 0.0034 | -55 | c.212 others(74): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MBLAC1_chr7_100121967_100133495 | 100131234 | TTTTTCTT others(48): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | -55 | c.*30 others(66): Show |
MBLAC1 | ENSG00000214309.5 | transcript | ENST00000398075.4 | protein_coding | 2740 | chr7 | TogoVar | |||||||
MDFIC2_chr3_70189479_70317638 | 70211362 | TTGCCCTT others(48): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01074.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0025 | a0001c0001t0001g0212 a0001c0001t0006g0011 a0001c0001t0006g0051 others(10): Show |
13 | 370 | 0.0351 | -55 | c.89- others(70): Show |
MDFIC2 | ENSG00000242120.4 | transcript | ENST00000567252.2 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151081299 | CTCCCTTC others(48): Show |
C | upstream_gene_variant | MODIFIER | HG01928.hp2 HG02148.hp2 HG03017.hp1 others(5): Show |
a0001a0002a0005 | a0001c0002a0001c0005a0001c0007others(3): Show | a0001c0002t0001a0001c0005t0001a0001c0007t0001others(4): Show | a0001c0002t0001g0131 a0001c0005t0001g0044 a0001c0007t0001g0040 others(5): Show |
8 | 280 | 0.0286 | -55 | c.-47 others(66): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 4364 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151368604 | TATTTTAT others(48): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02572.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0010a0001c0013others(2): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0023others(4): Show | a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0009g0081 others(5): Show |
8 | 280 | 0.0286 | -55 | c.355 others(72): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151368629 | TATTTCAT others(48): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01069.hp2 others(10): Show |
a0001a0002 | a0001c0004a0001c0010a0001c0019others(1): Show | a0001c0004t0002a0001c0010t0038a0001c0019t0002others(6): Show | a0001c0004t0002g0250 a0001c0010t0038g0124 a0001c0019t0002g0024 others(10): Show |
13 | 280 | 0.0464 | -55 | c.355 others(72): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151368634 | CATTTCAT others(48): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG03195.hp2 |
a0001 | a0001c0014 | a0001c0014t0011 | a0001c0014t0011g0029 a0001c0014t0011g0105 a0001c0014t0011g0127 |
3 | 280 | 0.0107 | -55 | c.355 others(72): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151368677 | GTCATTTC others(48): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01257.hp1 HG01928.hp2 others(15): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0002a0001c0004t0055a0001c0005t0001others(7): Show | a0001c0001t0002g0212 a0001c0004t0055g0003 a0001c0005t0001g0044 others(15): Show |
18 | 280 | 0.0643 | -55 | c.355 others(72): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3585363 | CGTCCTGT others(48): Show |
C | intron_variant | MODIFIER | HG01975.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0097 | 1 | 292 | 0.0034 | -55 | c.377 others(72): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MELK_chr9_36567895_36682682 | 36606407 | TGTGTGTA others(48): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02965.hp1 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0206 |
3 | 242 | 0.0124 | -55 | c.568 others(72): Show |
MELK | ENSG00000165304.8 | transcript | ENST00000298048.7 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
METRNL_chr17_83074609_83100122 | 83090404 | CCGCCCCA others(48): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0285 | 1 | 399 | 0.0025 | -55 | c.557 others(72): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142045221 | ATAATATA others(48): Show |
A | intron_variant | MODIFIER | NA18947.hp1 | a0065 | a0065c0149 | a0065c0149t0001 | a0065c0149t0001g0044 | 1 | 316 | 0.0032 | -55 | c.249 others(74): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543472 | TGGGGGCA others(48): Show |
T | intron_variant | MODIFIER | HG02300.hp1 | a0014 | a0014c0020 | a0014c0020t0002 | a0014c0020t0002g0173 | 1 | 286 | 0.0035 | -55 | c.153 others(72): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544549 | ACACTTTA others(48): Show |
A | intron_variant | MODIFIER | NA18957.hp2 NA19043.hp2 |
a0010a0019 | a0010c0012a0019c0025 | a0010c0012t0001a0019c0025t0002 | a0010c0012t0001g0273 a0019c0025t0002g0046 |
2 | 286 | 0.0070 | -55 | c.153 others(74): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237545062 | GGCACTAT others(48): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0103 | 1 | 286 | 0.0035 | -55 | c.154 others(74): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLYCD_chr16_83894115_83932031 | 83929799 | ATTAATTT others(48): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 432 | 0.0023 | -55 | c.*14 others(68): Show |
MLYCD | ENSG00000103150.7 | transcript | ENST00000262430.6 | protein_coding | 2769 | chr16 | TogoVar | |||||||
MPP7_chr10_28045993_28308064 | 28262220 | TATATACA others(48): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG03490.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0003c0005t0002 | a0001c0001t0002g0270 a0003c0005t0002g0245 |
2 | 300 | 0.0067 | -55 | c.-13 others(76): Show |
MPP7 | ENSG00000150054.19 | transcript | ENST00000683449.1 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
MPP7_chr10_28045993_28308064 | 28262222 | TATACATA others(48): Show |
T | intron_variant | MODIFIER | NA18943.hp1 NA18967.hp2 NA18982.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0024a0001c0003t0003 | a0001c0001t0002g0214 a0001c0001t0002g0276 a0001c0001t0024g0217 others(1): Show |
4 | 300 | 0.0133 | -55 | c.-13 others(76): Show |
MPP7 | ENSG00000150054.19 | transcript | ENST00000683449.1 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
MPP7_chr10_28045993_28308064 | 28262223 | ATACATAT others(48): Show |
A | intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0252 | 1 | 300 | 0.0033 | -55 | c.-13 others(76): Show |
MPP7 | ENSG00000150054.19 | transcript | ENST00000683449.1 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144179920 | CCCTCTCA others(48): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(99): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0016others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(99): Show |
102 | 140 | 0.7286 | -55 | c.301 others(70): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 5/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144256355 | ACCTTGGC others(48): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02922.hp2 others(2): Show |
a0001a0003a0013 | a0001c0001a0003c0003a0013c0028 | a0001c0001t0001a0003c0003t0001a0013c0028t0001 | a0001c0001t0001g0007 a0001c0001t0001g0117 a0003c0003t0001g0119 others(2): Show |
5 | 140 | 0.0357 | -55 | c.379 others(72): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 35/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MRPL15_chr8_54130241_54153514 | 54148151 | GCTACCCA others(48): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0023 | 1 | 390 | 0.0026 | -55 | c.*43 others(64): Show |
MRPL15 | ENSG00000137547.9 | transcript | ENST00000260102.9 | protein_coding | 5/5 | 433 | chr8 | TogoVar | ||||||
MRPL41_chr9_137546879_137557555 | 137551676 | CGAGCCCC others(48): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02559.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 408 | 0.0098 | -55 | c.-31 others(64): Show |
MRPL41 | ENSG00000182154.8 | transcript | ENST00000371443.6 | protein_coding | 202 | chr9 | TogoVar | |||||||
MRPL45_chr17_38292168_38328211 | 38313306 | AAAAAAAT others(48): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0216 | 1 | 287 | 0.0035 | -55 | c.462 others(72): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MSMO1_chr4_165322669_165348164 | 165332008 | ACTGTCTC others(48): Show |
A | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0066 | 1 | 462 | 0.0022 | -55 | c.-31 others(72): Show |
MSMO1 | ENSG00000052802.13 | transcript | ENST00000261507.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTERF4_chr2_241090571_241107287 | 241091412 | CCCTCCCC others(48): Show |
C | downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 398 | 0.0025 | -55 | c.*45 others(66): Show |
MTERF4 | ENSG00000122085.17 | transcript | ENST00000391980.7 | protein_coding | 4158 | chr2 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17804162 | ATAAACTA others(48): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0062 | 1 | 330 | 0.0030 | -55 | c.-33 others(66): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 3069 | chr8 | TogoVar | |||||||
MUC6_chr11_1007823_1041718 | 1029693 | CCCCCTCC others(48): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0166 | 1 | 406 | 0.0025 | -55 | c.101 others(71): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 8/32 | chr11 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50109655 | TGACGTTG others(48): Show |
T | intron_variant | MODIFIER | NA19076.hp2 | a0030 | a0030c0060 | a0030c0060t0003 | a0030c0060t0003g0065 | 1 | 238 | 0.0042 | -55 | c.28- others(72): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2100066 | TTCTTTCC others(48): Show |
T | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0309 | 1 | 403 | 0.0025 | -55 | c.244 others(72): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NAA15_chr4_139296505_139396384 | 139314986 | TTCAGTTC others(48): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01496.hp1 HG02486.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0006a0001c0002t0021others(3): Show | a0001c0001t0004g0081 a0001c0002t0006g0025 a0001c0002t0006g0027 others(15): Show |
18 | 334 | 0.0539 | -55 | c.54+ others(72): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NALF2_chrX_69499326_69537508 | 69500443 | GCAGTCGG others(48): Show |
G | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0015 | a0015c0009 | a0015c0009t0031 | a0015c0009t0031g0044 | 1 | 322 | 0.0031 | -55 | c.-48 others(66): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 3882 | chrX | TogoVar | |||||||
NAT14_chr19_55480188_55492566 | 55490051 | CCGAGGGG others(48): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02615.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0001c0003t0012others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0003t0001g0002 others(2): Show |
12 | 420 | 0.0286 | -55 | c.*30 others(66): Show |
NAT14 | ENSG00000090971.5 | transcript | ENST00000205194.5 | protein_coding | 2486 | chr19 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667928 | CCTTACCT others(48): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 378 | 0.0027 | -55 | c.148 others(74): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668098 | CCTCCTTA others(48): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 378 | 0.0027 | -55 | c.147 others(74): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCOA6_chr20_34709774_34830651 | 34817161 | ATGTATAT others(48): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 290 | 0.0035 | -55 | c.-16 others(74): Show |
NCOA6 | ENSG00000198646.14 | transcript | ENST00000359003.7 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
NDUFA10_chr2_239952372_240030342 | 240030287 | ATGAGGAT others(48): Show |
A | upstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0200 | 1 | 412 | 0.0024 | -55 | c.-50 others(66): Show |
NDUFA10 | ENSG00000130414.13 | transcript | ENST00000252711.7 | protein_coding | 4946 | chr2 | TogoVar |