| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(230): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0085 | 2 | 344 | 0.0058 | 237 | c.25- others(252): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| IRAG2_chr12_25047706_25113335 | 25106528 | T | TCAGACTC others(230): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 HG06807.hp1 others(1): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0006 | a0002c0002t0001a0003c0003t0001a0005c0006t0007 | a0002c0002t0001g0046a0002c0002t0001g0160a0003c0003t0001g0159others(1): Show | 4 | 344 | 0.0116 | 237 | c.114 others(254): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 20/21 | chr12 | TogoVar | ||||||
| IRAG2_chr12_25047706_25113335 | 25106550 | G | GTACAGTA others(230): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 344 | 0.0029 | 237 | c.114 others(254): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| JAKMIP3_chr10_132060946_132189858 | 132160346 | A | AGCCTCTT others(230): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0011 | a0004c0011t0040 | a0004c0011t0040g0060 | 1 | 158 | 0.0063 | 237 | c.222 others(256): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| JPH2_chr20_44101590_44192188 | 44134467 | T | TATAAATA others(230): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0003 | a0001c0003t0090 | a0001c0003t0090g0201 | 1 | 338 | 0.0030 | 237 | c.117 others(258): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
| KIAA1958_chr9_112481827_112674397 | 112525964 | T | TTCTTCTC others(230): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 308 | 0.0033 | 237 | c.-25 others(256): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(230): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02056.hp1 HG03017.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0065a0001c0001t0002g0063a0001c0001t0002g0108others(4): Show | 7 | 308 | 0.0227 | 237 | c.-25 others(256): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
| KIF1A_chr2_240708767_240825219 | 240786775 | A | AGGACCCC others(230): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0195 | 1 | 330 | 0.0030 | 237 | c.430 others(252): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | ||||||
| LAMA5_chr20_62304065_62372312 | 62349799 | C | CGATGATG others(230): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0082 | a0001c0082t0002 | a0001c0082t0002g0012 | 1 | 186 | 0.0054 | 237 | c.956 others(254): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
| LHFPL3_chr7_104323603_104913561 | 104833043 | A | AATATATT others(230): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0021 | 1 | 86 | 0.0116 | 237 | c.683 others(256): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(230): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0158 | 1 | 414 | 0.0024 | 237 | c.171 others(254): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(230): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0042 | a0001c0042t0001 | a0001c0042t0001g0275 | 1 | 414 | 0.0024 | 237 | c.171 others(254): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(230): Show |
intron_variant | MODIFIER | HG02293.hp2 NA18998.hp2 NA19088.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0226a0001c0002t0001g0102a0001c0002t0001g0288 | 3 | 414 | 0.0073 | 237 | c.171 others(254): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(230): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18995.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0221a0001c0002t0001g0101 | 2 | 414 | 0.0048 | 237 | c.171 others(254): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(230): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0277 | 1 | 414 | 0.0024 | 237 | c.171 others(254): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCGG others(230): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02965.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0284a0001c0002t0001g0285 | 2 | 414 | 0.0048 | 237 | c.171 others(254): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LOC102725191_chr7_12499441_12546270 | 12527001 | C | CTGAAATG others(230): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp2 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0126a0003c0003t0001g0337a0003c0003t0002g0045others(8): Show | 13 | 422 | 0.0308 | 237 | c.544 others(254): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LOC102725191_chr7_12499441_12546270 | 12527591 | A | AGTGTCAC others(230): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0094 | 1 | 422 | 0.0024 | 237 | c.545 others(254): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LOC114841035_chr11_64236095_64249132 | 64237126 | G | GAGAGAGA others(230): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 330 | 0.0030 | 237 | c.-41 others(248): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3968 | chr11 | TogoVar | ||||||
| LOC122319696_chrX_149409877_149420506 | 149418501 | T | TATATATA others(230): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 313 | 0.0032 | 237 | c.-30 others(248): Show |
LOC122319696 | ENSG00000287585.2 | transcript | ENST00000653668.2 | protein_coding | 2996 | chrX | TogoVar | ||||||
| MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(230): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0095 | 1 | 364 | 0.0028 | 237 | c.52+ others(250): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(230): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 364 | 0.0028 | 237 | c.52+ others(250): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(230): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0097 | 1 | 364 | 0.0028 | 237 | c.52+ others(250): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(230): Show |
intron_variant | MODIFIER | HG01175.hp2 NA19086.hp1 |
a0001a0011 | a0001c0001a0011c0018 | a0001c0001t0002a0011c0018t0002 | a0001c0001t0002g0261a0011c0018t0002g0260 | 2 | 364 | 0.0055 | 237 | c.52+ others(250): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(230): Show |
intron_variant | MODIFIER | HG02897.hp2 NA19058.hp2 |
a0002a0003 | a0002c0013a0003c0002 | a0002c0013t0002a0003c0002t0001 | a0002c0013t0002g0109a0003c0002t0001g0108 | 2 | 364 | 0.0055 | 237 | c.52+ others(250): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(230): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0262 | 1 | 364 | 0.0028 | 237 | c.52+ others(250): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MADCAM1_chr19_491486_510343 | 496891 | G | GGGGGCGC others(230): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0014 | a0002c0014t0002 | a0002c0014t0002g0259 | 1 | 364 | 0.0028 | 237 | c.52+ others(250): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MARCHF1_chr4_163519718_164389019 | 163836594 | T | TAAAAGAT others(230): Show |
intron_variant | MODIFIER | HG03579.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0044a0001c0001t0020g0070 | 2 | 102 | 0.0196 | 237 | c.111 others(256): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
| METRNL_chr17_83074609_83100122 | 83090164 | C | CCACACAC others(230): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01943.hp1 HG02004.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0021a0001c0001t0001g0036a0001c0001t0005g0093others(8): Show | 11 | 399 | 0.0276 | 237 | c.557 others(254): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| METRNL_chr17_83074609_83100122 | 83090170 | A | ACACACCC others(230): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0158 | 1 | 399 | 0.0025 | 237 | c.557 others(254): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| METRNL_chr17_83074609_83100122 | 83090298 | A | ACACACAC others(230): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0213 | 1 | 399 | 0.0025 | 237 | c.557 others(254): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MLIP_chr6_54106443_54271280 | 54251553 | A | ATTATATA others(230): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02630.hp1 |
a0004a0014 | a0004c0027a0014c0014 | a0004c0027t0002a0014c0014t0002 | a0004c0027t0002g0138a0014c0014t0002g0099a0014c0014t0002g0101 | 3 | 248 | 0.0121 | 237 | c.292 others(256): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | chr6 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237544215 | G | GGACAGTA others(230): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 286 | 0.0035 | 237 | c.153 others(256): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MMD2_chr7_4900998_4964187 | 4960054 | G | GTGGGAAG others(230): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0150 | 1 | 382 | 0.0026 | 237 | c.-10 others(248): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 868 | chr7 | TogoVar | ||||||
| MMD2_chr7_4900998_4964187 | 4960054 | G | GTGGGAAG others(230): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0373 | 1 | 382 | 0.0026 | 237 | c.-10 others(248): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 868 | chr7 | TogoVar | ||||||
| MMD2_chr7_4900998_4964187 | 4960054 | G | GTGGGAAG others(230): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0186 | 1 | 382 | 0.0026 | 237 | c.-10 others(248): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 868 | chr7 | TogoVar | ||||||
| MMD2_chr7_4900998_4964187 | 4960054 | G | GTGGGAAG others(230): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0342 | 1 | 382 | 0.0026 | 237 | c.-10 others(248): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 868 | chr7 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43499843 | T | TGGTGGTG others(230): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0018 | 1 | 250 | 0.0040 | 237 | c.748 others(254): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MPPED1_chr22_43407014_43512848 | 43500201 | A | AATGGAGG others(230): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0103 | 1 | 250 | 0.0040 | 237 | c.748 others(254): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MPPED2_chr11_30405224_30591353 | 30557225 | A | AATATATA others(230): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 262 | 0.0038 | 237 | c.129 others(256): Show |
MPPED2 | ENSG00000066382.17 | transcript | ENST00000358117.10 | protein_coding | 2/6 | chr11 | TogoVar | ||||||
| MRPL21_chr11_68886278_68908832 | 68892239 | G | GTCACGCG others(230): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02055.hp2 HG02895.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0012 | 5 | 395 | 0.0127 | 237 | c.553 others(252): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 6/6 | chr11 | TogoVar | ||||||
| MRPL21_chr11_68886278_68908832 | 68892385 | G | GGGAGCGA others(230): Show |
intron_variant | MODIFIER | HG02809.hp2 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0097a0002c0002t0002g0098 | 2 | 395 | 0.0051 | 237 | c.553 others(252): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 6/6 | chr11 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 767753 | C | CGCGTGGG others(230): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0340 | 1 | 388 | 0.0026 | 237 | c.159 others(254): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MSLN_chr16_755734_773862 | 767934 | A | AGGAGGGG others(230): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 388 | 0.0026 | 237 | c.159 others(254): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110681050 | T | TAATATAT others(230): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03098.hp1 HG03209.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0002c0004t0005 | a0001c0001t0006g0135a0001c0001t0006g0318a0002c0004t0005g0139others(1): Show | 4 | 326 | 0.0123 | 237 | c.80- others(252): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | chr9 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1351426 | G | GGAGGGGG others(230): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 | 1 | 338 | 0.0030 | 237 | c.*21 others(248): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1264 | chr1 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1351426 | G | GGAGGGGT others(230): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 | 1 | 338 | 0.0030 | 237 | c.*21 others(248): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1264 | chr1 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2085501 | G | GTGATCTC others(230): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0107 | a0002c0107t0001 | a0002c0107t0001g0072 | 1 | 403 | 0.0025 | 237 | c.164 others(254): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NAALADL2_chr3_174854334_175815548 | 175670512 | A | AATTTATA others(230): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0005 | a0005c0006 | a0005c0006t0020 | a0005c0006t0020g0052 | 1 | 64 | 0.0156 | 237 | c.189 others(258): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NCAPG2_chr7_158626169_158709804 | 158668100 | T | TCCCTTAC others(230): Show |
intron_variant | MODIFIER | NA19009.hp2 NA19068.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0369a0001c0001t0001g0372a0001c0001t0001g0373 | 3 | 378 | 0.0079 | 237 | c.148 others(256): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar |