| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(519): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0009 | a0009c0051 | a0009c0051t0001 | a0009c0051t0001g0242 | 1 | 282 | 0.0036 | 526 | c.623 others(543): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| JAKMIP3_chr10_132060946_132189858 | 132173143 | C | CCCCTCCT others(519): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0005 | a0005c0050 | a0005c0050t0034 | a0005c0050t0034g0115 | 1 | 158 | 0.0063 | 526 | c.*11 others(547): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(519): Show |
intron_variant | MODIFIER | HG02055.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220a0001c0001t0001g0295 | 2 | 312 | 0.0064 | 526 | c.-41 others(541): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNK10_chr14_88175108_88328269 | 88310155 | C | CATATACC others(519): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0105 | 1 | 334 | 0.0030 | 526 | c.52+ others(543): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
| KCNMB2_chr3_178531436_178849429 | 178758040 | A | ACACAAGA others(519): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 232 | 0.0043 | 526 | c.-67 others(545): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
| KIAA0930_chr22_45187244_45245894 | 45228891 | A | ACCCCCGC others(519): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0141 | 1 | 398 | 0.0025 | 526 | c.64+ others(543): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
| LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(519): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0019 | a0019c0031 | a0019c0031t0009 | a0019c0031t0009g0246 | 1 | 308 | 0.0033 | 526 | c.*66 others(537): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471472 | T | TATTTTAT others(519): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0056 | 1 | 260 | 0.0039 | 526 | c.125 others(543): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 960318 | A | AACCCAGA others(519): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0115 | 1 | 294 | 0.0034 | 526 | c.194 others(543): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(519): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0178a0001c0001t0005g0270a0001c0001t0005g0272 | 3 | 296 | 0.0101 | 526 | c.368 others(543): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364445 | A | ACACCCAC others(519): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0097 | 1 | 290 | 0.0035 | 526 | c.129 others(543): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRRK2_chr12_40219997_40374285 | 40247728 | A | ATATTTAT others(519): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02698.hp1 NA18943.hp1 others(5): Show |
a0004 | a0004c0006 | a0004c0006t0001a0004c0006t0008 | a0004c0006t0001g0329a0004c0006t0001g0330a0004c0006t0001g0337others(5): Show | 8 | 382 | 0.0209 | 526 | c.839 others(543): Show |
LRRK2 | ENSG00000188906.17 | transcript | ENST00000298910.12 | protein_coding | 7/50 | chr12 | TogoVar | ||||||
| LRRK2_chr12_40219997_40374285 | 40247728 | A | ATATTTAT others(519): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0016 | a0003c0016t0009 | a0003c0016t0009g0131 | 1 | 382 | 0.0026 | 526 | c.839 others(543): Show |
LRRK2 | ENSG00000188906.17 | transcript | ENST00000298910.12 | protein_coding | 7/50 | chr12 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186510 | G | GGAGGAAC others(519): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 350 | 0.0029 | 526 | c.*26 others(537): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2479 | chr16 | TogoVar | ||||||
| MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(519): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 246 | 0.0041 | 526 | c.171 others(543): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(519): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0004 | a0004c0019 | a0004c0019t0001 | a0004c0019t0001g0052 | 1 | 246 | 0.0041 | 526 | c.171 others(543): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(519): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0109 | 1 | 246 | 0.0041 | 526 | c.171 others(543): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(519): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0152 | 1 | 246 | 0.0041 | 526 | c.171 others(543): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(519): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0015 | a0002c0015t0002 | a0002c0015t0002g0112 | 1 | 246 | 0.0041 | 526 | c.171 others(543): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(519): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0016 | a0016c0026 | a0016c0026t0001 | a0016c0026t0001g0174 | 1 | 246 | 0.0041 | 526 | c.171 others(543): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(519): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0244 | 1 | 246 | 0.0041 | 526 | c.171 others(543): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MAP3K15_chrX_19355059_19520508 | 19478096 | A | AGGGGGGA others(519): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0027 | 1 | 163 | 0.0061 | 526 | c.525 others(543): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(519): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 288 | 0.0035 | 526 | c.-32 others(537): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | ||||||
| MBNL3_chrX_132364320_132494038 | 132396745 | T | TATTCATA others(519): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0190 | 1 | 191 | 0.0052 | 526 | c.343 others(543): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
| MCF2L2_chr3_183173041_183433619 | 183314943 | T | TTTTGAGA others(519): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02976.hp1 NA18968.hp2 others(2): Show |
a0001a0003a0011others(1): Show | a0001c0001a0003c0003a0011c0014others(1): Show | a0001c0001t0002a0003c0003t0008a0011c0014t0001others(2): Show | a0001c0001t0002g0119a0003c0003t0008g0024a0011c0014t0001g0093others(2): Show | 5 | 176 | 0.0284 | 526 | c.753 others(543): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
| MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGGGAG others(519): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 280 | 0.0036 | 526 | c.641 others(541): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
| MMD2_chr7_4900998_4964187 | 4959993 | C | CGGGGTGT others(519): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0344 | 1 | 382 | 0.0026 | 526 | c.-97 others(535): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 807 | chr7 | TogoVar | ||||||
| MMD2_chr7_4900998_4964187 | 4959994 | G | GGGGTGTT others(519): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0343 | 1 | 382 | 0.0026 | 526 | c.-97 others(535): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 808 | chr7 | TogoVar | ||||||
| MTTP_chr4_99569824_99628997 | 99588955 | A | ACATATAT others(519): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 364 | 0.0028 | 526 | c.394 others(541): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TAATATAT others(519): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0148 | 1 | 348 | 0.0029 | 526 | c.48+ others(541): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
| NFILZ_chr19_8625633_8686151 | 8678099 | A | ATCCGTTC others(519): Show |
3_prime_UTR_variant | MODIFIER | HG01934.hp1 HG02145.hp2 HG02572.hp1 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0017 | a0006c0006t0017g0054a0006c0006t0017g0118a0006c0006t0017g0287others(1): Show | 4 | 366 | 0.0109 | 526 | c.*46 others(535): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 468 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| NFILZ_chr19_8625633_8686151 | 8678099 | A | ATCTGTTC others(519): Show |
3_prime_UTR_variant | MODIFIER | HG02970.hp2 | a0013 | a0013c0011 | a0013c0011t0063 | a0013c0011t0063g0255 | 1 | 366 | 0.0027 | 526 | c.*46 others(535): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 467 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| NHLRC4_chr16_562005_574495 | 571108 | T | TGTGTGTG others(519): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 526 | c.*26 others(537): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132149622 | C | CCACACCC others(519): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 294 | 0.0034 | 526 | c.901 others(541): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132150101 | C | CACCACAC others(519): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0275 | 1 | 294 | 0.0034 | 526 | c.902 others(541): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDIA2_chr16_278164_292215 | 285931 | C | CCCCAACC others(519): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0029 | a0029c0055 | a0029c0055t0001 | a0029c0055t0001g0065 | 1 | 436 | 0.0023 | 526 | c.111 others(543): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PEX26_chr22_18072990_18110396 | 18106326 | C | CGTGGTTC others(519): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0057a0001c0001t0046g0058 | 2 | 398 | 0.0050 | 526 | c.*18 others(539): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 931 | chr22 | TogoVar | ||||||
| PIGQ_chr16_564968_589109 | 571108 | T | TGTGTGTG others(519): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0249 | 1 | 408 | 0.0025 | 526 | c.-10 others(543): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(519): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0087 | 1 | 346 | 0.0029 | 526 | c.176 others(545): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
| PPP1R12C_chr19_55085918_55122637 | 55096931 | G | GCCCCTTC others(519): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03041.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0037a0001c0005t0001g0191a0001c0005t0001g0192 | 4 | 390 | 0.0103 | 526 | c.952 others(541): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 492356 | A | AGGCCCCT others(519): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0196 | 1 | 295 | 0.0034 | 526 | c.126 others(545): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCCCC others(519): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0001 | 2 | 295 | 0.0068 | 526 | c.126 others(545): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTTC others(519): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 295 | 0.0034 | 526 | c.126 others(545): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RTN1_chr14_59590983_59875776 | 59750547 | T | TATATATA others(519): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 172 | 0.0058 | 526 | c.242 others(543): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
| RTN1_chr14_59590983_59875776 | 59750547 | T | TATATATA others(519): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 172 | 0.0058 | 526 | c.242 others(543): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
| SART1_chr11_65956734_65985137 | 65971457 | T | TGCTGAGG others(519): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0011 | 1 | 384 | 0.0026 | 526 | c.157 others(545): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| SART1_chr11_65956734_65985137 | 65971457 | T | TGCTGAGG others(519): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01109.hp2 others(16): Show |
a0001a0002 | a0001c0006a0002c0001 | a0001c0006t0001a0002c0001t0001 | a0001c0006t0001g0143a0002c0001t0001g0003a0002c0001t0001g0075others(10): Show | 19 | 384 | 0.0495 | 526 | c.157 others(545): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1289972 | G | GTCTCTGC others(519): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 290 | 0.0035 | 526 | c.166 others(543): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SHISA5_chr3_48462876_48509174 | 48486344 | G | GTATTATA others(519): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 290 | 0.0035 | 526 | c.234 others(543): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
| SLAIN1_chr13_77692687_77769229 | 77704211 | T | TATGTTTT others(519): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 300 | 0.0033 | 526 | c.626 others(543): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |