| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC183_chr9_136791338_136812741 | 136803281 | C | CCGGGGGC others(536): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 398 | 0.0025 | 543 | c.666 others(558): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | chr9 | TogoVar | ||||||
| CCDC198_chr14_57464300_57498857 | 57498800 | G | GTGTATAT others(536): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0005 | a0005c0007 | a0005c0007t0008 | a0005c0007t0008g0072 | 1 | 362 | 0.0028 | 543 | c.-50 others(554): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 4944 | chr14 | TogoVar | ||||||
| CCDC198_chr14_57464300_57498857 | 57498800 | G | GTGTATAT others(536): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 362 | 0.0028 | 543 | c.-50 others(554): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 4944 | chr14 | TogoVar | ||||||
| CCDC198_chr14_57464300_57498857 | 57498800 | G | GTGTGTAT others(536): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0023 | 2 | 362 | 0.0055 | 543 | c.-50 others(554): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 4944 | chr14 | TogoVar | ||||||
| CCDC198_chr14_57464300_57498857 | 57498800 | G | GTGTGTAT others(536): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 HG03927.hp2 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0139a0001c0001t0001g0149 | 3 | 362 | 0.0083 | 543 | c.-50 others(554): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 4944 | chr14 | TogoVar | ||||||
| CCDC198_chr14_57464300_57498857 | 57498800 | G | GTGTGTAT others(536): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 362 | 0.0028 | 543 | c.-50 others(554): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 4944 | chr14 | TogoVar | ||||||
| CCDC198_chr14_57464300_57498857 | 57498800 | G | GTGTGTAT others(536): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02451.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0019others(1): Show | 6 | 362 | 0.0166 | 543 | c.-50 others(554): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 4944 | chr14 | TogoVar | ||||||
| CCDC198_chr14_57464300_57498857 | 57498800 | G | GTGTGTAT others(536): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 NA18954.hp2 NA18981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0127a0001c0001t0001g0147 | 4 | 362 | 0.0111 | 543 | c.-50 others(554): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 4944 | chr14 | TogoVar | ||||||
| CCDC198_chr14_57464300_57498857 | 57498800 | G | GTGTGTAT others(536): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0024a0001c0001t0007g0159 | 2 | 362 | 0.0055 | 543 | c.-50 others(554): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 4944 | chr14 | TogoVar | ||||||
| CCDC88C_chr14_91266323_91422820 | 91293509 | C | CTCACCTT others(536): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03041.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0009a0001c0066a0001c0071 | a0001c0009t0002a0001c0066t0002a0001c0071t0002 | a0001c0009t0002g0107a0001c0009t0002g0262a0001c0066t0002g0075others(1): Show | 4 | 284 | 0.0141 | 543 | c.411 others(560): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(536): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0089 | 1 | 256 | 0.0039 | 543 | c.-45 others(564): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(536): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0025 | 1 | 354 | 0.0028 | 543 | c.*69 others(554): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
| CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(536): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 HG02683.hp2 HG02809.hp2 others(3): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0004a0002c0001t0002g0006a0002c0001t0002g0015 | 6 | 354 | 0.0170 | 543 | c.*69 others(554): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
| CFAP61_chr20_20047532_20365698 | 20320403 | A | AATATATA others(536): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 | 1 | 236 | 0.0042 | 543 | c.342 others(564): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| COL17A1_chr10_104026286_104090880 | 104036145 | G | GGAGTGTG others(536): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0025 | a0025c0040 | a0025c0040t0002 | a0025c0040t0002g0287 | 1 | 336 | 0.0030 | 543 | c.341 others(560): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 48/55 | chr10 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240924467 | A | ACACTAAC others(536): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0044 | a0044c0074 | a0044c0074t0007 | a0044c0074t0007g0165 | 1 | 350 | 0.0029 | 543 | c.489 others(560): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
| CUL4A_chr13_113204613_113272108 | 113232250 | G | GTCACCAC others(536): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 396 | 0.0025 | 543 | c.513 others(558): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
| DCLK2_chr4_150073445_150262438 | 150251219 | C | CCCCACAC others(536): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 116 | 0.0086 | 543 | c.207 others(562): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 400981 | C | CACCAGCT others(536): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0102 | a0002c0102t0001 | a0002c0102t0001g0204 | 1 | 256 | 0.0039 | 543 | c.323 others(562): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89619063 | C | CCCCCCCG others(536): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 250 | 0.0040 | 543 | c.-10 others(562): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| EFCAB6_chr22_43523778_43817305 | 43730279 | G | GGAAGGAG others(536): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0231 | 1 | 290 | 0.0035 | 543 | c.757 others(560): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 8/31 | chr22 | TogoVar | ||||||
| FBN2_chr5_128252909_128543245 | 128539754 | C | CATATATA others(536): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0014 | a0001c0014t0014 | a0001c0014t0014g0112 | 1 | 236 | 0.0042 | 543 | c.-21 others(554): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1510 | chr5 | TogoVar | ||||||
| FBN2_chr5_128252909_128543245 | 128539761 | T | TATGATAT others(536): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0018 | a0018c0030 | a0018c0030t0008 | a0018c0030t0008g0021 | 1 | 236 | 0.0042 | 543 | c.-21 others(554): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1517 | chr5 | TogoVar | ||||||
| FBXO47_chr17_38931432_38972403 | 38946669 | T | TATATAAA others(536): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01943.hp1 HG01981.hp2 others(18): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0001c0001t0009a0007c0007t0010 | a0001c0001t0001g0233a0001c0001t0001g0238a0001c0001t0001g0241others(18): Show | 21 | 344 | 0.0611 | 543 | c.617 others(560): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805301 | G | GCCCAGGA others(536): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0039 | 1 | 314 | 0.0032 | 543 | c.*11 others(554): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1015 | chr2 | TogoVar | ||||||
| HPCAL1_chr2_10297904_10432604 | 10399305 | C | CATCACCA others(536): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 314 | 0.0032 | 543 | c.-25 others(560): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| IGSF9B_chr11_133891438_133961968 | 133932577 | G | GACAGACA others(536): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0114 | a0001c0002t0114g0307 | 1 | 362 | 0.0028 | 543 | c.968 others(558): Show |
IGSF9B | ENSG00000080854.16 | transcript | ENST00000533871.8 | protein_coding | 7/19 | chr11 | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132775111 | G | GGAGAGAG others(536): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 204 | 0.0049 | 543 | c.978 others(560): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(536): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 312 | 0.0032 | 543 | c.-41 others(558): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124610989 | C | CGGGTGCG others(536): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0175 | 2 | 260 | 0.0077 | 543 | c.717 others(560): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(536): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0155 | 4 | 394 | 0.0102 | 543 | c.-8+ others(556): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8543669 | G | GTGGTGGT others(536): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 342 | 0.0029 | 543 | c.152 others(560): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805301 | G | GCCCAGGA others(536): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 319 | 0.0031 | 543 | c.-39 others(554): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3891 | chr2 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(536): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0239 | 1 | 362 | 0.0028 | 543 | c.-75 others(562): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NHLRC4_chr16_562005_574495 | 571108 | T | TGTGTGTG others(536): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 543 | c.*26 others(554): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 841443 | T | TCCCCCCT others(536): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193 | 1 | 242 | 0.0041 | 543 | c.361 others(562): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OR6J1_chr14_22625929_22649352 | 22637546 | G | GCCGCCCC others(536): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0122 | 1 | 362 | 0.0028 | 543 | c.-27 others(560): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| PDGFC_chr4_156755454_156976799 | 156825575 | T | TGAAGAAG others(536): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0035 | 1 | 208 | 0.0048 | 543 | c.315 others(562): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(536): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02965.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0010a0002c0002t0003g0138 | 5 | 376 | 0.0133 | 543 | c.*15 others(554): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | ||||||
| PIGQ_chr16_564968_589109 | 571108 | T | TGTGTGTG others(536): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0246 | 1 | 408 | 0.0025 | 543 | c.-10 others(560): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137502730 | G | GGGGGGCG others(536): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 1 | 188 | 0.0053 | 543 | c.147 others(562): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137503786 | G | GAAAAAAG others(536): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0010 | a0010c0013 | a0010c0013t0002 | a0010c0013t0002g0164 | 1 | 188 | 0.0053 | 543 | c.147 others(562): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
| PTK2B_chr8_27320552_27464386 | 27438462 | C | CTGATTCT others(536): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0011 | 1 | 328 | 0.0031 | 543 | c.164 others(560): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(536): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 330 | 0.0030 | 543 | c.-50 others(554): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | ||||||
| RABL6_chr9_136802948_136846187 | 136803280 | G | GCCGGGGG others(536): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0001 | 1 | 330 | 0.0030 | 543 | c.-49 others(554): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4667 | chr9 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7678876 | T | TATAAATA others(536): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01256.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0063a0001c0001t0010g0155 | 2 | 308 | 0.0065 | 543 | c.-75 others(562): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7678903 | T | TATAAATA others(536): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 308 | 0.0033 | 543 | c.-75 others(562): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RYK_chr3_134152133_134255859 | 134192441 | C | CAAAAAGT others(536): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01074.hp2 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089a0001c0001t0002g0096a0001c0001t0002g0097 | 3 | 376 | 0.0080 | 543 | c.890 others(558): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 7/14 | chr3 | TogoVar | ||||||
| RYK_chr3_134152133_134255859 | 134192441 | C | CAAAAAGT others(536): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057a0001c0001t0002g0058 | 2 | 376 | 0.0053 | 543 | c.890 others(558): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 7/14 | chr3 | TogoVar | ||||||
| SCAMP1_chr5_78355617_78485739 | 78430203 | T | TTGTTTAT others(536): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0214 | 1 | 332 | 0.0030 | 543 | c.632 others(560): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |