| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MAGEA4_chrX_151907889_151930170 | 151915907 | CCACGTCC others(1362): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01123.hp1 HG03471.hp1 others(6): Show |
a0002 | a0002c0001a0002c0006 | a0002c0001t0002a0002c0006t0002 | a0002c0001t0002g0009a0002c0001t0002g0043a0002c0001t0002g0056others(3): Show | 9 | 344 | 0.0262 | -1369 | c.-13 others(19): Show |
MAGEA4 | ENSG00000147381.12 | transcript | ENST00000276344.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| COL23A1_chr5_178232618_178595393 | 178263111 | TGCACTAG others(1361): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00639.hp1 | a0013 | a0013c0010 | a0013c0010t0002 | a0013c0010t0002g0117 | 1 | 236 | 0.0042 | -1368 | c.523 others(15): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 9/29 | chr5 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3685656 | CTCCCAGC others(1361): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 362 | 0.0028 | -1368 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974629 | CAGGGAAA others(1361): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0105 | 1 | 150 | 0.0067 | -1368 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| TMEM87B_chr2_112050269_112124314 | 112113825 | TGTAGCAT others(1361): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0200 | 1 | 316 | 0.0032 | -1368 | c.160 others(17): Show |
TMEM87B | ENSG00000153214.11 | transcript | ENST00000283206.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CXCR1_chr2_218157841_218171962 | 218161128 | CTAAGATT others(1359): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01975.hp2 HG02055.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 12 | 344 | 0.0349 | -1366 | c.*16 others(11): Show |
CXCR1 | ENSG00000163464.8 | transcript | ENST00000295683.3 | protein_coding | 1712 | chr2 | TogoVar | ||||||
| KNDC1_chr10_133155219_133231412 | 133222448 | TGTGTGTG others(1359): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0015 | a0003c0015t0028 | a0003c0015t0028g0109 | 1 | 332 | 0.0030 | -1366 | c.501 others(18): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393332 | CAGGTGGT others(1359): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG04228.hp1 NA18747.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0046others(1): Show | a0001c0001t0006a0001c0001t0012a0001c0001t0079others(4): Show | a0001c0001t0006g0256a0001c0001t0012g0206a0001c0001t0079g0202others(4): Show | 7 | 346 | 0.0202 | -1366 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408124 | GCAGGAGG others(1358): Show |
G | intron_variant | MODIFIER | HG00544.hp1 NA19007.hp1 |
a0002a0004 | a0002c0004a0004c0010 | a0002c0004t0001a0004c0010t0001 | a0002c0004t0001g0030a0004c0010t0001g0082 | 2 | 185 | 0.0108 | -1365 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408229 | GCAGGAGG others(1358): Show |
G | intron_variant | MODIFIER | HG00423.hp2 NA18950.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0107a0004c0006t0001g0084 | 2 | 185 | 0.0108 | -1365 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1085899 | GTTGTTGT others(1358): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02155.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0117others(4): Show | a0001c0001t0001g0080a0001c0001t0004g0075a0001c0001t0117g0001others(4): Show | 7 | 162 | 0.0432 | -1365 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1085964 | GTTGTTGT others(1358): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01358.hp2 HG01884.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0039a0002c0002t0079others(5): Show | a0002c0002t0001g0149a0002c0002t0001g0152a0002c0002t0039g0151others(6): Show | 9 | 162 | 0.0556 | -1365 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| KRT77_chr12_52684626_52708524 | 52692552 | CTCCAGGT others(1358): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 HG00639.hp2 HG01069.hp1 others(5): Show |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0010a0006c0006t0002g0107 | 8 | 420 | 0.0191 | -1365 | c.108 others(13): Show |
KRT77 | ENSG00000189182.10 | transcript | ENST00000341809.8 | protein_coding | 6/9 | 1385/3366 | chr12 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745099 | CCCCGGGG others(1358): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0361a0001c0001t0004g0362 | 2 | 366 | 0.0055 | -1365 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| VPS53_chr17_503668_719839 | 505701 | GAGATCAG others(1358): Show |
G | downstream_gene_variant | MODIFIER | HG01361.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0069 | a0001c0001t0011g0013a0001c0001t0069g0012 | 2 | 232 | 0.0086 | -1365 | c.*12 others(13): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 2966 | chr17 | TogoVar | ||||||
| RCAN2_chr6_46215736_46496449 | 46260889 | AGATCTCT others(1357): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0094 | 1 | 158 | 0.0063 | -1364 | c.226 others(19): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
| MAST2_chr1_45798612_46041122 | 45821415 | AACCTTTT others(1356): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03209.hp1 |
a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0001a0004c0011t0001g0002 | 2 | 288 | 0.0069 | -1363 | c.178 others(17): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745157 | CCGGGGTC others(1356): Show |
C | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0300 | 1 | 366 | 0.0027 | -1363 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76392812 | AAGGCAGG others(1356): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0045 | a0001c0045t0131 | a0001c0045t0131g0021 | 1 | 346 | 0.0029 | -1363 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| CHST9_chr18_26901481_27190308 | 26975698 | TATGTGTA others(1355): Show |
T | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0227 | 1 | 262 | 0.0038 | -1362 | c.203 others(19): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| OR2V1_chr5_181118122_181136169 | 181134665 | ATGGCTGA others(1355): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02976.hp2 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0018a0002c0002t0001g0087a0002c0002t0001g0088 | 3 | 438 | 0.0069 | -1362 | c.-50 others(11): Show |
OR2V1 | ENSG00000185372.4 | transcript | ENST00000641551.1 | protein_coding | 3497 | chr5 | TogoVar | ||||||
| AP1M2_chr19_10567671_10592312 | 10590746 | ATTCTCCT others(1354): Show |
A | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0141 | 1 | 394 | 0.0025 | -1361 | c.-48 others(11): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 3435 | chr19 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1342973 | CAGCAGCT others(1354): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0086 | 1 | 190 | 0.0053 | -1361 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | chr2 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1344176 | CTTTTCCC others(1354): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 |
a0006a0011 | a0006c0009a0011c0018 | a0006c0009t0001a0011c0018t0001 | a0006c0009t0001g0049a0011c0018t0001g0045 | 2 | 190 | 0.0105 | -1361 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CYP4F11_chr19_15907377_15939529 | 15932505 | GAGAGGAA others(1353): Show |
G | intron_variant | MODIFIER | HG02056.hp2 HG02080.hp2 HG03041.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0002c0001t0174 | a0001c0002t0003g0004a0001c0002t0003g0245a0001c0002t0003g0246others(2): Show | 6 | 386 | 0.0155 | -1360 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932549 | AGAATGAG others(1353): Show |
A | intron_variant | MODIFIER | HG02015.hp1 NA18987.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0307a0001c0002t0001g0308 | 2 | 386 | 0.0052 | -1360 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| DNA2_chr10_68409064_68476973 | 68452138 | AGTGGCAT others(1353): Show |
A | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 326 | 0.0031 | -1360 | c.720 others(17): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 5/20 | chr10 | TogoVar | ||||||
| RPS6KA6_chrX_84053350_84193199 | 84191839 | TATATATA others(1353): Show |
T | upstream_gene_variant | MODIFIER | NA18941.hp1 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0011 | 2 | 272 | 0.0074 | -1360 | c.-53 others(11): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3641 | chrX | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132148957 | ACTCCTAC others(1352): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 294 | 0.0034 | -1359 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132148962 | TACCACAC others(1352): Show |
T | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 294 | 0.0034 | -1359 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1343202 | GGCAGCTT others(1352): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG01261.hp2 HG02976.hp2 others(6): Show |
a0001a0003a0006others(3): Show | a0001c0001a0003c0008a0006c0009others(3): Show | a0001c0001t0001a0003c0008t0001a0006c0009t0001others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0025a0003c0008t0001g0044others(6): Show | 9 | 190 | 0.0474 | -1359 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TM7SF3_chr12_26966579_27019384 | 27008073 | CTGTGAGT others(1351): Show |
C | intron_variant | MODIFIER | NA18947.hp2 NA18951.hp1 NA18957.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011a0001c0001t0003g0012a0001c0001t0003g0129others(1): Show | 6 | 430 | 0.0140 | -1358 | c.91+ others(15): Show |
TM7SF3 | ENSG00000064115.11 | transcript | ENST00000343028.9 | protein_coding | 1/11 | chr12 | TogoVar | ||||||
| MAGEA4_chrX_151907889_151930170 | 151914389 | CTGGGGCG others(1350): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 344 | 0.0029 | -1357 | c.-13 others(19): Show |
MAGEA4 | ENSG00000147381.12 | transcript | ENST00000276344.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ODF4_chr17_8334840_8351046 | 8343293 | GGCTAATT others(1350): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(161): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0001a0004c0005others(1): Show | a0001c0002t0001a0002c0001t0001a0004c0005t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0031a0002c0001t0001g0004others(25): Show | 164 | 432 | 0.3796 | -1357 | c.455 others(16): Show |
ODF4 | ENSG00000184650.11 | transcript | ENST00000328248.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| UBXN7_chr3_196342662_196437427 | 196404013 | GGAGGCAG others(1350): Show |
G | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 274 | 0.0037 | -1357 | c.221 others(16): Show |
UBXN7 | ENSG00000163960.12 | transcript | ENST00000296328.9 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
| FNDC3B_chr3_172034578_172406669 | 172318785 | GGGGTTCT others(1349): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0161 | 1 | 196 | 0.0051 | -1356 | c.125 others(19): Show |
FNDC3B | ENSG00000075420.13 | transcript | ENST00000415807.7 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241806532 | ACCCTCCC others(1349): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 314 | 0.0032 | -1356 | c.*23 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2246 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806532 | ACCCTCCC others(1349): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0153 | 1 | 319 | 0.0031 | -1356 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2660 | chr2 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137471427 | CGTCTCTA others(1349): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0066a0001c0002t0001g0090 | 2 | 188 | 0.0106 | -1356 | c.288 others(19): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 25/34 | chr9 | TogoVar | ||||||
| HLA-DQB1_chr6_32654467_32671657 | 32670302 | GAAAACAG others(1348): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00621.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007a0002c0002t0002g0044a0002c0002t0002g0046 | 18 | 402 | 0.0448 | -1355 | c.-50 others(11): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 3646 | chr6 | TogoVar | ||||||
| LINGO2_chr9_27932617_29218601 | 28846497 | AGTGGGTG others(1348): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01261.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0014others(3): Show | a0001c0001t0003g0034a0001c0001t0004g0022a0001c0001t0004g0039others(4): Show | 7 | 62 | 0.1129 | -1355 | c.-39 others(22): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
| EML1_chr14_99788413_99947060 | 99811328 | GAGCCACT others(1347): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01074.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0002c0001t0002 | a0001c0003t0003g0277a0001c0003t0003g0279a0002c0001t0002g0278 | 3 | 288 | 0.0104 | -1354 | c.67+ others(17): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| QRICH2_chr17_76269049_76313276 | 76284635 | GGTGAAAC others(1347): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 364 | 0.0028 | -1354 | c.401 others(19): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 7/18 | chr17 | TogoVar | ||||||
| SMG6_chr17_2054843_2308785 | 2110063 | CAGAGTGA others(1347): Show |
C | intron_variant | MODIFIER | NA18943.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0165 | 1 | 278 | 0.0036 | -1354 | c.335 others(21): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | ||||||
| RYR3_chr15_33305967_33871102 | 33778345 | AAACACCA others(1346): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0005 | a0005c0040 | a0005c0040t0013 | a0005c0040t0013g0145 | 1 | 154 | 0.0065 | -1353 | c.913 others(18): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 64/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SLC12A7_chr5_1045384_1117063 | 1071846 | CGGGCATC others(1346): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0026 | a0002c0026t0004 | a0002c0026t0004g0086 | 1 | 118 | 0.0085 | -1353 | c.224 others(18): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SMARCA1_chrX_129441506_129528490 | 129527137 | CAAAAAAT others(1346): Show |
C | upstream_gene_variant | MODIFIER | HG02723.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0071 | 2 | 279 | 0.0072 | -1353 | c.-51 others(11): Show |
SMARCA1 | ENSG00000102038.16 | transcript | ENST00000371121.5 | protein_coding | 3648 | chrX | TogoVar | ||||||
| ATXN2_chr12_111447214_111604315 | 111538484 | GGGACTAC others(1345): Show |
G | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 298 | 0.0034 | -1352 | c.571 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | TogoVar | ||||||
| LRRTM4_chr2_76742685_77527376 | 77430542 | AGAAACCC others(1345): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02630.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0104a0001c0001t0001g0113others(10): Show | 13 | 128 | 0.1016 | -1352 | c.155 others(21): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168560754 | GCCCTGAG others(1345): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 180 | 0.0056 | -1352 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |