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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC8E_chr19_7883510_7907016 | 7884489 | GGGGAGGA others(35): Show |
G | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0005 | a0002c0005t0015 | a0002c0005t0015g0043 | 1 | 388 | 0.0026 | -42 | c.-41 others(53): Show |
LRRC8E | ENSG00000171017.11 | transcript | ENST00000306708.11 | protein_coding | 4020 | chr19 | TogoVar | |||||||
LRRC9_chr14_59915144_60071817 | 59975047 | ATATATGC others(35): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0004 | a0004c0008 | a0004c0008t0015 | a0004c0008t0015g0167 | 1 | 320 | 0.0031 | -42 | c.163 others(59): Show |
LRRC9 | ENSG00000131951.12 | transcript | ENST00000570145.2 | protein_coding | 13/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRRK1_chr15_100914357_101083257 | 100941422 | GTGTGTCT others(35): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0055 | a0001c0055t0244 | a0001c0055t0244g0009 | 1 | 333 | 0.0030 | -42 | c.97+ others(59): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
LSAMP_chr3_115797374_116450487 | 116109925 | CGGAAATA others(35): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0057 | a0001c0001t0002g0048 a0001c0001t0002g0094 a0001c0001t0057g0036 |
3 | 104 | 0.0288 | -42 | c.156 others(61): Show |
LSAMP | ENSG00000185565.13 | transcript | ENST00000490035.7 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
LSG1_chr3_194635791_194677191 | 194645495 | TACACACA others(35): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02486.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0013a0002c0002t0026a0002c0002t0056others(2): Show | a0002c0002t0013g0035 a0002c0002t0026g0036 a0002c0002t0056g0344 others(2): Show |
7 | 350 | 0.0200 | -42 | c.162 others(59): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
LSG1_chr3_194635791_194677191 | 194645529 | CAGACAGA others(35): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01257.hp2 HG01258.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0017a0002c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(7): Show | a0001c0001t0003g0252 a0001c0001t0006g0241 a0001c0001t0011g0268 others(7): Show |
11 | 368 | 0.0299 | -42 | c.162 others(59): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
LSG1_chr3_194635791_194677191 | 194645533 | CAGACACA others(35): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01496.hp2 NA19060.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0006a0002c0002t0001 | a0001c0001t0003g0277 a0001c0001t0006g0242 a0002c0002t0001g0046 |
3 | 405 | 0.0074 | -42 | c.162 others(59): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
LSG1_chr3_194635791_194677191 | 194645535 | GACACACA others(35): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01070.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(8): Show | a0001c0001t0003g0026 a0001c0001t0003g0249 a0001c0001t0003g0251 others(19): Show |
25 | 349 | 0.0716 | -42 | c.162 others(59): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
LTBP2_chr14_74493183_74617237 | 74564201 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 279 | 0.0036 | -42 | c.831 others(59): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 3/35 | chr14 | TogoVar | |||||||
LTBP4_chr19_40596369_40634818 | 40625252 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0229 |
2 | 157 | 0.0127 | -42 | c.383 others(59): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LTBR_chr12_6379162_6396566 | 6390676 | TGTCACCG others(35): Show |
T | conservative_inframe_deletion | MODERATE | NA18983.hp2 | a0006 | a0006c0008 | a0006c0008t0005 | a0006c0008t0005g0003 | 1 | 450 | 0.0022 | -42 | c.104 others(51): Show |
p.Val others(13): Show |
LTBR | ENSG00000111321.11 | transcript | ENST00000228918.9 | protein_coding | 10/10 | 1245/2134 | 1048/1308 | 350/435 | chr12 | TogoVar | |||
LUC7L3_chr17_50714603_50761219 | 50729904 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0174 | 1 | 384 | 0.0026 | -42 | c.100 others(59): Show |
LUC7L3 | ENSG00000108848.16 | transcript | ENST00000505658.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LY6D_chr8_142779882_142791539 | 142783673 | GGGCCTTG others(35): Show |
G | downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | -42 | c.*15 others(53): Show |
LY6D | ENSG00000167656.5 | transcript | ENST00000301263.5 | protein_coding | 1208 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143014597 | TGTGTGAG others(35): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 249 | 0.0080 | -42 | c.-40 others(53): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3931 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143014904 | GGAGGAGG others(35): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(88): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(13): Show |
91 | 374 | 0.2433 | -42 | c.-37 others(53): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3624 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143015165 | GGAGGAGG others(35): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(107): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(18): Show |
110 | 376 | 0.2926 | -42 | c.-34 others(53): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3363 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143015500 | CGTGTGAG others(35): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG02056.hp2 NA18940.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 6 | 376 | 0.0160 | -42 | c.-31 others(53): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3028 | chr8 | TogoVar | |||||||
LYRM4_chr6_5103419_5265950 | 5120767 | TGATTGGT others(35): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0190 | 1 | 284 | 0.0035 | -42 | c.208 others(61): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
MACC1_chr7_20129655_20222384 | 20136853 | AATTATTA others(35): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01099.hp1 |
a0003 | a0003c0003 | a0003c0003t0051a0003c0003t0052 | a0003c0003t0051g0034 a0003c0003t0052g0035 |
2 | 314 | 0.0064 | -42 | c.*40 others(53): Show |
MACC1 | ENSG00000183742.13 | transcript | ENST00000400331.10 | protein_coding | 7/7 | 4051 | chr7 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 2102232 | CCACCACC others(35): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0132 | 1 | 262 | 0.0038 | -42 | c.107 others(63): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 11/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2161916 | GCCCGTCC others(35): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG01978.hp2 HG02738.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0002c0005t0002 | a0001c0001t0001g0085 a0001c0001t0002g0122 a0002c0005t0002g0121 |
3 | 262 | 0.0115 | -42 | c.987 others(61): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 10/18 | chr7 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1333855 | ACCCCCAT others(35): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 351 | 0.0028 | -42 | c.765 others(58): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAGI2_chr7_78012055_79458667 | 78070182 | TATATATA others(35): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0003others(3): Show | a0001c0001t0002g0033 a0001c0002t0001g0025 a0001c0002t0001g0026 others(4): Show |
7 | 39 | 0.1795 | -42 | c.370 others(61): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
MAGI3_chr1_113385515_113690923 | 113437862 | TCCTCTTC others(35): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0127 | 1 | 186 | 0.0054 | -42 | c.316 others(61): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579099 | GCACCACC others(35): Show |
G | intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0180 | 1 | 323 | 0.0031 | -42 | c.391 others(57): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAP2_chr2_209419047_209739112 | 209434843 | ATATATGT others(35): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01975.hp1 HG02683.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0003c0004t0035 | a0001c0001t0002g0020 a0001c0001t0003g0022 a0003c0004t0035g0021 |
3 | 146 | 0.0205 | -42 | c.-22 others(63): Show |
MAP2 | ENSG00000078018.22 | transcript | ENST00000682079.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185455019 | TATATATG others(35): Show |
T | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0129 | 1 | 276 | 0.0036 | -42 | c.127 others(61): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185455151 | GATATATA others(35): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02056.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0097 a0001c0002t0001g0124 a0001c0002t0001g0135 others(10): Show |
13 | 256 | 0.0508 | -42 | c.127 others(61): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MAP3K21_chr1_233322724_233390148 | 233339226 | TTCTTCTT others(35): Show |
T | intron_variant | MODIFIER | HG03041.hp1 NA19074.hp2 |
a0002a0004 | a0002c0007a0004c0005 | a0002c0007t0005a0004c0005t0003 | a0002c0007t0005g0294 a0004c0005t0003g0009 |
2 | 370 | 0.0054 | -42 | c.806 others(59): Show |
MAP3K21 | ENSG00000143674.11 | transcript | ENST00000366624.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAP3K21_chr1_233322724_233390148 | 233339250 | TTCTTCTT others(35): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02818.hp2 HG03486.hp1 |
a0001a0003 | a0001c0001a0001c0006a0003c0004 | a0001c0001t0012a0001c0006t0033a0003c0004t0017 | a0001c0001t0012g0046 a0001c0006t0033g0066 a0003c0004t0017g0199 |
3 | 342 | 0.0088 | -42 | c.806 others(59): Show |
MAP3K21 | ENSG00000143674.11 | transcript | ENST00000366624.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAP7_chr6_136337734_136555422 | 136354351 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0219 | 1 | 246 | 0.0041 | -42 | c.201 others(61): Show |
MAP7 | ENSG00000135525.19 | transcript | ENST00000354570.8 | protein_coding | 16/17 | chr6 | TogoVar | |||||||
MAPK8IP3_chr16_1701195_1775351 | 1735615 | GTGTGAGC others(35): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(42): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0019others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0131 a0001c0001t0001g0174 others(39): Show |
45 | 327 | 0.1376 | -42 | c.602 others(59): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MARCHF6_chr5_10348695_10445388 | 10435623 | CTATATAA others(35): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00673.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(2): Show | a0001c0001t0002g0179 a0001c0001t0002g0191 a0001c0001t0002g0202 others(19): Show |
22 | 191 | 0.1152 | -42 | c.*19 others(53): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1946 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MASP2_chr1_11021523_11052239 | 11037210 | ATAATTTT others(35): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG03130.hp1 NA21309.hp2 |
a0002a0008 | a0002c0023a0008c0019 | a0002c0023t0001a0008c0019t0001 | a0002c0023t0001g0245 a0008c0019t0001g0264 a0008c0019t0001g0265 |
3 | 344 | 0.0087 | -42 | c.100 others(59): Show |
MASP2 | ENSG00000009724.18 | transcript | ENST00000400897.8 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
MAST4_chr5_66591393_67174593 | 66850947 | AAGAAAAA others(35): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG02897.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0008a0001c0001t0030a0001c0003t0001others(1): Show | a0001c0001t0008g0075 a0001c0001t0030g0028 a0001c0003t0001g0076 others(1): Show |
4 | 106 | 0.0377 | -42 | c.643 others(61): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 3/28 | chr5 | TogoVar | |||||||
MB21D2_chr3_192791815_192922856 | 192828591 | CATATATA others(35): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG03209.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0022 a0001c0001t0002g0233 a0001c0001t0004g0129 others(3): Show |
6 | 54 | 0.1111 | -42 | c.212 others(61): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MBOAT4_chr8_30126671_30149665 | 30143352 | AAAAAAAA others(35): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(284): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 others(103): Show |
287 | 378 | 0.7593 | -42 | c.119 others(59): Show |
MBOAT4 | ENSG00000177669.4 | transcript | ENST00000320542.4 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51197041 | GATATATA others(35): Show |
G | intron_variant | MODIFIER | NA18747.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0058 | a0001c0001t0031g0150 a0001c0001t0058g0051 |
2 | 5 | 0.4000 | -42 | c.122 others(61): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 12/16 | chr17 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113145765 | CACACACA others(35): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001a0003 | a0001c0009a0001c0025a0003c0037 | a0001c0009t0025a0001c0025t0041a0001c0025t0042others(1): Show | a0001c0009t0025g0096 a0001c0025t0041g0063 a0001c0025t0042g0062 others(1): Show |
4 | 127 | 0.0315 | -42 | c.742 others(59): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MCF2_chrX_139576770_139713167 | 139651144 | ATGCCGCT others(35): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0117 | 1 | 247 | 0.0040 | -42 | c.25+ others(55): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 2/28 | chrX | TogoVar | |||||||
MCM10_chr10_13156558_13216110 | 13204990 | GTATGTAT others(35): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01069.hp1 others(17): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0208 a0001c0001t0001g0315 a0001c0001t0005g0019 others(15): Show |
20 | 147 | 0.1361 | -42 | c.249 others(59): Show |
MCM10 | ENSG00000065328.17 | transcript | ENST00000378714.8 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94954068 | GCATATAT others(35): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0034 a0001c0001t0009g0008 |
2 | 98 | 0.0204 | -42 | c.839 others(57): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 95207936 | AGAGAGAG others(35): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0006 | a0001c0006t0024 | a0001c0006t0024g0016 | 1 | 98 | 0.0102 | -42 | c.720 others(61): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94244870 | CTATGTTT others(35): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0036 | 1 | 274 | 0.0036 | -42 | c.-66 others(61): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94390090 | GTATATAT others(35): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0062 a0001c0001t0003g0180 a0001c0001t0011g0132 others(2): Show |
5 | 233 | 0.0215 | -42 | c.178 others(61): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 14/22 | chr15 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 46933799 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01167.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0065 a0001c0001t0003g0038 a0001c0001t0003g0049 others(22): Show |
25 | 37 | 0.6757 | -42 | c.209 others(63): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 9/16 | chr14 | TogoVar | |||||||
MDH1_chr2_63583963_63612197 | 63602746 | TCATTTTG others(35): Show |
T | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 352 | 0.0028 | -42 | c.499 others(59): Show |
MDH1 | ENSG00000014641.21 | transcript | ENST00000233114.13 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MDH2_chr7_76043106_76072508 | 76046274 | CTGTGTGT others(35): Show |
C | upstream_gene_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0155 | 1 | 231 | 0.0043 | -42 | c.-18 others(53): Show |
MDH2 | ENSG00000146701.12 | transcript | ENST00000315758.10 | protein_coding | 1831 | chr7 | TogoVar | |||||||
MDH2_chr7_76043106_76072508 | 76046309 | TGTGTGTG others(35): Show |
T | upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0052 | 1 | 389 | 0.0026 | -42 | c.-18 others(53): Show |
MDH2 | ENSG00000146701.12 | transcript | ENST00000315758.10 | protein_coding | 1796 | chr7 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169191700 | AAAAGAAA others(35): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03704.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0013a0001c0004t0008 | a0001c0001t0013g0025 a0001c0004t0008g0090 |
2 | 139 | 0.0144 | -42 | c.376 others(61): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar |