| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FSTL5_chr4_161378897_162169000 | 161528123 | CATCATAC others(2384): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00621.hp2 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0037others(29): Show | 32 | 142 | 0.2254 | -2391 | c.131 others(20): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 10/15 | chr4 | TogoVar | |||||||
| ADCY3_chr2_24814169_24925237 | 24857026 | AGGGCCAC others(2381): Show |
A | intron_variant | MODIFIER | HG00673.hp1 | a0003 | a0003c0036 | a0003c0036t0014 | a0003c0036t0014g0002 | 1 | 272 | 0.0037 | -2388 | c.825 others(19): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 3/21 | chr2 | TogoVar | |||||||
| LINGO2_chr9_27932617_29218601 | 28048858 | AGTTTGTG others(2381): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00642.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0041a0001c0001t0001g0048a0001c0001t0002g0045others(4): Show | 7 | 62 | 0.1129 | -2388 | c.-35 others(20): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
| RIPK1_chr6_3063494_3120187 | 3091725 | GCCTACCT others(2380): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043a0001c0001t0003g0124 | 2 | 340 | 0.0059 | -2387 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| AGTR1_chr3_148692903_148748003 | 148693063 | GGAATGCT others(2378): Show |
G | upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 350 | 0.0029 | -2385 | c.-51 others(11): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 4839 | chr3 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1637011 | AGTGTCCC others(2378): Show |
A | intron_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 | 1 | 223 | 0.0045 | -2385 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1637061 | TGTGGGCA others(2378): Show |
T | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 223 | 0.0045 | -2385 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CLCN5_chrX_49917596_50104230 | 49966577 | TATATCTC others(2378): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | 175 | 0.2571 | -2385 | c.16+ others(17): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| DAZ4_chrY_24828919_24912040 | 24881957 | CTCCCTGA others(2378): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00140.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0003 | 1 | 41 | 0.0244 | -2385 | c.164 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
| DAZ4_chrY_24828919_24912040 | 24882359 | CTTTTTTA others(2378): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00738.hp1 HG01192.hp1 HG01243.hp1 others(6): Show |
a0003a0004 | a0003c0004a0004c0003 | a0003c0004t0001a0004c0003t0001 | a0003c0004t0001g0004a0003c0004t0001g0017a0003c0004t0001g0018others(6): Show | 9 | 41 | 0.2195 | -2385 | c.164 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
| DAZ4_chrY_24828919_24912040 | 24885346 | CGTTTATA others(2378): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG02735.hp1 NA20805.hp1 |
a0003a0004 | a0003c0004a0004c0003 | a0003c0004t0001a0004c0003t0001 | a0003c0004t0001g0006a0004c0003t0001g0005 | 2 | 41 | 0.0488 | -2385 | c.171 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 22/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
| STPG2_chr4_97553872_98148476 | 98068596 | GACATGTT others(2378): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 266 | 0.0038 | -2385 | c.612 others(19): Show |
STPG2 | ENSG00000163116.10 | transcript | ENST00000295268.4 | protein_coding | 5/10 | chr4 | TogoVar | |||||||
| ZDHHC22_chr14_77126270_77146791 | 77144406 | CCAGCTAC others(2378): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 454 | 0.0022 | -2385 | c.-52 others(11): Show |
ZDHHC22 | ENSG00000177108.5 | transcript | ENST00000319374.4 | protein_coding | 2616 | chr14 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1636939 | GCTCTCCT others(2377): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(27): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0025a0001c0001t0001g0058a0001c0001t0001g0061others(27): Show | 30 | 223 | 0.1345 | -2384 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | chrX | TogoVar | |||||||
| DAZ2_chrY_23214533_23296356 | 23273519 | CTAGAAAC others(2377): Show |
C | exon_loss_variant others(4): Show |
HIGH | homoSapiens_chm13v2.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0031 | 1 | 54 | 0.0185 | -2384 | c.165 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
| DAZ2_chrY_23214533_23296356 | 23274497 | TTGACGGA others(2377): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG03688.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0050 | 1 | 54 | 0.0185 | -2384 | c.165 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1636924 | GGGGACAG others(2376): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 223 | 0.0045 | -2383 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1636931 | GTGTCCCA others(2376): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(76): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0017others(76): Show | 79 | 223 | 0.3543 | -2383 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2277658 | CGAGAGGG others(2376): Show |
C | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 50 | 0.0200 | -2383 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
| VPS13B_chr8_99008274_99882580 | 99587324 | ATGGGTAT others(2376): Show |
A | intron_variant | MODIFIER | HG03139.hp1 HG03195.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0061a0002c0003t0003g0062 | 2 | 134 | 0.0149 | -2383 | c.522 others(20): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| VPS72_chr1_151171304_151195197 | 151192787 | TGAGACTC others(2374): Show |
T | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 408 | 0.0025 | -2381 | c.-50 others(11): Show |
VPS72 | ENSG00000163159.15 | transcript | ENST00000368892.9 | protein_coding | 2591 | chr1 | TogoVar | |||||||
| LRRC72_chr7_16521825_16586568 | 16523151 | ACCACAGT others(2373): Show |
A | upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 410 | 0.0024 | -2380 | c.-38 others(11): Show |
LRRC72 | ENSG00000205858.10 | transcript | ENST00000401542.3 | protein_coding | 3673 | chr7 | TogoVar | |||||||
| CD2_chr1_116749430_116774229 | 116756341 | GCATTTAG others(2372): Show |
G | intron_variant | MODIFIER | HG02698.hp2 HG03834.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0193a0001c0001t0001g0194 | 3 | 456 | 0.0066 | -2379 | c.382 others(17): Show |
CD2 | ENSG00000116824.5 | transcript | ENST00000369478.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PHKA1_chrX_72573814_72719306 | 72680581 | TAAAGAAA others(2371): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02280.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0005a0001c0002t0004g0006a0001c0002t0004g0007others(2): Show | 5 | 237 | 0.0211 | -2378 | c.537 others(17): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | |||||||
| DAW1_chr2_227866631_227929344 | 227868183 | TTTTAGTA others(2370): Show |
T | upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 340 | 0.0029 | -2377 | c.-35 others(11): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 3447 | chr2 | TogoVar | |||||||
| RIMBP2_chr12_130391133_130721299 | 130663371 | CTGGCCAA others(2369): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02647.hp2 HG02970.hp1 others(3): Show |
a0001a0002a0013 | a0001c0001a0001c0024a0001c0032others(3): Show | a0001c0001t0001a0001c0024t0001a0001c0032t0001others(3): Show | a0001c0001t0001g0179a0001c0024t0001g0170a0001c0032t0001g0026others(3): Show | 6 | 180 | 0.0333 | -2376 | c.-35 others(21): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
| POGZ_chr1_151397724_151464494 | 151451167 | AACCAATA others(2366): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01346.hp2 HG01952.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0071a0001c0002t0002g0072a0001c0002t0002g0073others(3): Show | 6 | 320 | 0.0188 | -2373 | c.-2+ others(15): Show |
POGZ | ENSG00000143442.24 | transcript | ENST00000271715.7 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
| DAZ2_chrY_23214533_23296356 | 23247631 | GGAGAGTA others(2365): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00738.hp1 HG01243.hp1 HG01261.hp1 others(5): Show |
a0003a0010a0013 | a0003c0003a0010c0009a0013c0012 | a0003c0003t0001a0010c0009t0001a0013c0012t0001 | a0003c0003t0001g0008a0003c0003t0001g0009a0003c0003t0001g0010others(5): Show | 8 | 54 | 0.1482 | -2372 | c.107 others(19): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
| C11orf65_chr11_108377755_108472529 | 108449203 | TACTGCCC others(2364): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0082 | 2 | 330 | 0.0061 | -2371 | c.81+ others(16): Show |
C11orf65 | ENSG00000166323.13 | transcript | ENST00000393084.6 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
| NUP160_chr11_47773118_47853350 | 47819572 | CTTCATCA others(2364): Show |
C | exon_loss_variant others(4): Show |
HIGH | NA18949.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0176 | 1 | 338 | 0.0030 | -2371 | c.107 others(17): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 9/36 | chr11 | TogoVar | |||||||
| SCGB2B2_chr19_34585644_34682159 | 34628302 | AAAACTCT others(2363): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0036 | 1 | 370 | 0.0027 | -2370 | c.-20 others(23): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
| FSTL5_chr4_161378897_162169000 | 162054120 | AGGTTAAC others(2361): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG03098.hp1 others(1): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0004c0006others(1): Show | a0001c0001t0002a0001c0003t0002a0004c0006t0002others(1): Show | a0001c0001t0002g0007a0001c0003t0002g0008a0004c0006t0002g0001others(1): Show | 4 | 142 | 0.0282 | -2368 | c.127 others(19): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
| C11orf65_chr11_108377755_108472529 | 108449989 | CCTCAAAA others(2360): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 330 | 0.0030 | -2367 | c.81+ others(16): Show |
C11orf65 | ENSG00000166323.13 | transcript | ENST00000393084.6 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805283 | ACCTTCCC others(2360): Show |
A | downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 314 | 0.0032 | -2367 | c.*11 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 997 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805283 | ACCTTCCC others(2360): Show |
A | upstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 319 | 0.0031 | -2367 | c.-39 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3909 | chr2 | TogoVar | |||||||
| MSRA_chr8_10049292_10433891 | 10337401 | GATCTCCT others(2355): Show |
G | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 286 | 0.0035 | -2362 | c.543 others(19): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1402205 | TGAGTCGT others(2354): Show |
T | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0005 | 1 | 40 | 0.0250 | -2361 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| STAU1_chr20_49108339_49193334 | 49142281 | TTTCGTCA others(2354): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 366 | 0.0027 | -2361 | c.510 others(17): Show |
STAU1 | ENSG00000124214.21 | transcript | ENST00000371856.7 | protein_coding | 5/13 | chr20 | TogoVar | |||||||
| PPFIA2_chr12_81252975_81764350 | 81632641 | TTTCTTTA others(2349): Show |
T | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 | 1 | 168 | 0.0060 | -2356 | c.303 others(19): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1015224 | AGACGGTG others(2348): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 40 | 0.0250 | -2355 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| TAF2_chr8_119725774_119837841 | 119725908 | AAAATAGA others(2348): Show |
A | downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 322 | 0.0031 | -2355 | c.*36 others(11): Show |
TAF2 | ENSG00000064313.13 | transcript | ENST00000378164.7 | protein_coding | 4865 | chr8 | TogoVar | |||||||
| TMEM165_chr4_55390957_55431175 | 55400534 | CTCACGCC others(2347): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02258.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0145others(13): Show | 18 | 382 | 0.0471 | -2354 | c.207 others(17): Show |
TMEM165 | ENSG00000134851.13 | transcript | ENST00000381334.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| NKD2_chr5_1003802_1043943 | 1041590 | GTGTGTGA others(2346): Show |
G | downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 319 | 0.0031 | -2353 | c.*32 others(11): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 2648 | chr5 | TogoVar | |||||||
| SPOCK1_chr5_136970298_137504326 | 136985430 | GCATAGAA others(2344): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0008 | 1 | 152 | 0.0066 | -2351 | c.928 others(15): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 8/10 | chr5 | TogoVar | |||||||
| KRTAP19-7_chr21_30555875_30566314 | 30558319 | GTGATCCG others(2343): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | -2350 | c.*42 others(10): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 2555 | chr21 | TogoVar | |||||||
| SLC24A4_chr14_92318165_92506481 | 92333878 | GGCTGGGC others(2341): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0102 | a0001c0001t0102g0011 | 1 | 282 | 0.0036 | -2348 | c.241 others(18): Show |
SLC24A4 | ENSG00000140090.18 | transcript | ENST00000532405.6 | protein_coding | 2/16 | chr14 | TogoVar | |||||||
| MYO6_chr6_75744239_75924537 | 75765175 | TTTTTTTT others(2338): Show |
T | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0151 | 1 | 358 | 0.0028 | -2345 | c.-48 others(19): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| LEPR_chr1_65415668_65646559 | 65542552 | TTGCTGCA others(2335): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0084 | 1 | 216 | 0.0046 | -2342 | c.-20 others(19): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| C5orf22_chr5_31527301_31560053 | 31557714 | GCAGGAGA others(2332): Show |
G | downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | -2339 | c.*48 others(11): Show |
C5orf22 | ENSG00000082213.18 | transcript | ENST00000325366.14 | protein_coding | 2662 | chr5 | TogoVar | |||||||
| ATCAY_chr19_3875685_3933082 | 3930431 | TCTCCTGA others(2327): Show |
T | downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 384 | 0.0026 | -2334 | c.*58 others(11): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 2350 | chr19 | TogoVar |