| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| COL28A1_chr7_7352875_7540873 | 7411916 | GAGACCAC others(1369): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170 | 1 | 194 | 0.0052 | -1376 | c.213 others(19): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1013625 | AGACGGTG others(1369): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 40 | 0.0250 | -1376 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| KRTAP5-9_chr11_71543420_71554608 | 71552962 | AGGATGGT others(1369): Show |
A | downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 420 | 0.0024 | -1376 | c.*37 others(11): Show |
KRTAP5-9 | ENSG00000254997.4 | transcript | ENST00000528743.4 | protein_coding | 3355 | chr11 | TogoVar | |||||||
| LRRTM4_chr2_76742685_77527376 | 76873534 | ACAACATA others(1369): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 128 | 0.0078 | -1376 | c.155 others(23): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
| SLC66A2_chr18_79897420_79956653 | 79920188 | TGGAGGAG others(1369): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0295 | 1 | 202 | 0.0050 | -1376 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
| ZNF600_chr19_52759184_52791791 | 52783641 | GTGAGCCA others(1369): Show |
G | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0283 | 1 | 486 | 0.0021 | -1376 | c.-64 others(19): Show |
ZNF600 | ENSG00000189190.11 | transcript | ENST00000692063.1 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
| TMEM132D_chr12_129066726_129909025 | 129088154 | GGGTGTCC others(1368): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG01975.hp1 others(2): Show |
a0001 | a0001c0002a0001c0006a0001c0007 | a0001c0002t0004a0001c0006t0002a0001c0007t0004others(1): Show | a0001c0002t0004g0077 a0001c0006t0002g0036 a0001c0006t0002g0076 others(2): Show |
5 | 80 | 0.0625 | -1375 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | |||||||
| CACNG7_chr19_53904278_53948950 | 53922309 | TCCCCAGG others(1367): Show |
T | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 363 | 0.0028 | -1374 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 402236 | CGTGTGGT others(1367): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00673.hp2 others(26): Show |
a0001 | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(26): Show |
29 | 88 | 0.3295 | -1374 | c.115 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 9/36 | chr10 | TogoVar | |||||||
| SMAD9_chr13_36839831_36925238 | 36860362 | AGGATACG others(1367): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 | 1 | 356 | 0.0028 | -1374 | c.100 others(19): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 5/6 | chr13 | TogoVar | |||||||
| ZNF516_chr18_76352682_76500242 | 76393329 | GGGCAGGT others(1367): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02976.hp1 |
a0001a0002 | a0001c0025a0002c0021 | a0001c0025t0053a0002c0021t0110 | a0001c0025t0053g0183 a0002c0021t0110g0278 |
2 | 264 | 0.0076 | -1374 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| IFT56_chr7_139128778_139196986 | 139184792 | TGCCTGTA others(1366): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0143 a0001c0001t0011g0144 |
2 | 328 | 0.0061 | -1373 | c.142 others(19): Show |
IFT56 | ENSG00000105948.13 | transcript | ENST00000464848.5 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| ORM1_chr9_114318098_114331479 | 114319730 | GTGTGTGT others(1364): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00597.hp1 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 76 | 462 | 0.1645 | -1371 | c.-34 others(11): Show |
ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 3367 | chr9 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1397661 | AGAGTCGT others(1363): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0029 | 1 | 40 | 0.0250 | -1370 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| 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 | a0002c0001t0002g0008 a0002c0001t0002g0039 a0002c0001t0002g0050 others(2): Show |
9 | 342 | 0.0263 | -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 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0117 | 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 | a0001c0001t0001g0281 | 1 | 328 | 0.0030 | -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 | 132 | 0.0076 | -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 | 129 | 0.0078 | -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 | 342 | 0.0351 | -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 | a0003c0015t0022 | a0003c0015t0022g0110 | 1 | 330 | 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 | a0001c0001t0004a0001c0001t0012a0001c0001t0032others(4): Show | a0001c0001t0004g0213 a0001c0001t0012g0259 a0001c0001t0032g0205 others(4): Show |
7 | 344 | 0.0203 | -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 | a0002c0005a0004c0009 | a0002c0005t0001a0004c0009t0001 | a0002c0005t0001g0031 a0004c0009t0001g0085 |
2 | 75 | 0.0267 | -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 |
C | intron_variant | MODIFIER | HG00423.hp2 NA18950.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0110 a0004c0007t0001g0088 |
2 | 125 | 0.0160 | -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 | a0001c0001t0009a0001c0001t0018a0001c0001t0075others(4): Show | a0001c0001t0009g0078 a0001c0001t0018g0080 a0001c0001t0075g0001 others(4): Show |
7 | 108 | 0.0648 | -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 | a0002c0002t0009a0002c0002t0011a0002c0002t0037others(5): Show | a0002c0002t0009g0149 a0002c0002t0009g0152 a0002c0002t0011g0124 others(6): Show |
9 | 127 | 0.0709 | -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 | a0006c0006t0002g0010 a0006c0006t0002g0070 |
8 | 418 | 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 | a0001c0001t0004g0357 a0001c0001t0004g0358 |
2 | 360 | 0.0056 | -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 | a0001c0001t0011a0001c0001t0070 | a0001c0001t0011g0013 a0001c0001t0070g0012 |
2 | 208 | 0.0096 | -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 | a0001c0001t0009g0095 | 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 | a0004c0011t0001g0001 a0004c0011t0001g0002 |
2 | 286 | 0.0070 | -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 | a0001c0001t0007g0295 | 1 | 363 | 0.0028 | -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 | a0001c0045t0087 | a0001c0045t0087g0024 | 1 | 262 | 0.0038 | -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 | 260 | 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 | a0001c0001t0001g0018 a0002c0002t0001g0087 a0002c0002t0001g0088 |
3 | 436 | 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 | a0001c0002t0003g0140 | 1 | 392 | 0.0026 | -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 | 188 | 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 |
a0006a0013 | a0006c0009a0013c0018 | a0006c0009t0001a0013c0018t0001 | a0006c0009t0001g0048 a0013c0018t0001g0045 |
2 | 188 | 0.0106 | -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 | a0001c0002t0005a0002c0001t0143 | a0001c0002t0005g0003 a0001c0002t0005g0273 a0001c0002t0005g0274 others(2): Show |
6 | 325 | 0.0185 | -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 | a0001c0002t0001g0238 a0001c0002t0001g0239 |
2 | 113 | 0.0177 | -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 | a0001c0001t0001g0294 | 1 | 324 | 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 | 265 | 0.0075 | -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 | a0001c0001t0001g0216 | 1 | 230 | 0.0043 | -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 | a0001c0001t0001g0004 | 1 | 174 | 0.0057 | -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(5): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0008a0006c0009others(2): Show | a0001c0001t0001a0003c0008t0001a0006c0009t0001others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0027 a0003c0008t0001g0044 others(5): Show |
8 | 148 | 0.0541 | -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 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0138 others(1): Show |
6 | 428 | 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 | a0001c0002t0001g0048 | 1 | 342 | 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 | a0001c0002t0001g0009 a0001c0002t0001g0028 a0002c0001t0001g0004 others(25): Show |
164 | 430 | 0.3814 | -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 | 272 | 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 | 194 | 0.0052 | -1356 | c.125 others(19): Show |
FNDC3B | ENSG00000075420.13 | transcript | ENST00000415807.7 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |