| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ASMT_chrX_1610059_1648081 | 1637215 | ACATGAGG others(2625): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG03831.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0004 | a0002c0002t0002g0154a0004c0004t0004g0148 | 2 | 223 | 0.0090 | -2632 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CD320_chr19_8297127_8313358 | 8310729 | CTGGGTAT others(2622): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 390 | 0.0026 | -2629 | c.-50 others(11): Show |
CD320 | ENSG00000167775.11 | transcript | ENST00000301458.10 | protein_coding | 2372 | chr19 | TogoVar | |||||||
| ZNF106_chr15_42407823_42496141 | 42428817 | GCAGTGGT others(2622): Show |
G | intron_variant | MODIFIER | HG03516.hp2 NA18522.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0133a0002c0003t0004g0135 | 2 | 264 | 0.0076 | -2629 | c.488 others(18): Show |
ZNF106 | ENSG00000103994.18 | transcript | ENST00000564754.7 | protein_coding | 14/21 | chr15 | TogoVar | |||||||
| CBLIF_chr11_59824273_59850499 | 59847873 | GCAGCCTC others(2619): Show |
G | upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0184 | 1 | 342 | 0.0029 | -2626 | c.-50 others(11): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 2375 | chr11 | TogoVar | |||||||
| NPIPB7_chr16_28451329_28477336 | 28470730 | AAGGGGTC others(2616): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01993.hp1 | a0026 | a0026c0029 | a0026c0029t0065 | a0026c0029t0065g0339 | 1 | 382 | 0.0026 | -2623 | c.-29 others(10): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1/7 | 293 | chr16 | TogoVar | ||||||
| ZAN_chr7_100728595_100802797 | 100740278 | TGATCTGA others(2616): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02486.hp1 others(2): Show |
a0056a0057a0058others(2): Show | a0056c0085a0057c0084a0058c0049others(2): Show | a0056c0085t0001a0057c0084t0001a0058c0049t0001others(2): Show | a0056c0085t0001g0301a0057c0084t0001g0300a0058c0049t0001g0099others(2): Show | 5 | 308 | 0.0162 | -2623 | c.766 others(17): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| C18orf63_chr18_74310839_74364189 | 74350030 | GTCCATCC others(2614): Show |
G | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129 | 1 | 372 | 0.0027 | -2621 | c.979 others(16): Show |
C18orf63 | ENSG00000206043.7 | transcript | ENST00000579455.2 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTXND2_chr1_150882136_150918292 | 150915671 | TGGTGGCT others(2614): Show |
T | downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 372 | 0.0027 | -2621 | c.*31 others(11): Show |
CTXND2 | ENSG00000283324.1 | transcript | ENST00000636087.1 | protein_coding | 2380 | chr1 | TogoVar | |||||||
| GABBR2_chr9_98283109_98713935 | 98546761 | ATCTCATT others(2614): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00597.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(34): Show | a0001c0001t0001g0138a0001c0001t0001g0149a0001c0001t0001g0150others(54): Show | 57 | 164 | 0.3476 | -2621 | c.460 others(17): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 2/18 | chr9 | TogoVar | |||||||
| NBPF12_chr1_146933324_147001198 | 146956976 | ATTCAAAC others(2614): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
a0003a0006a0025others(2): Show | a0003c0004a0003c0005a0003c0023others(10): Show | a0003c0004t0001a0003c0005t0001a0003c0005t0025others(11): Show | a0003c0004t0001g0033a0003c0004t0001g0040a0003c0004t0001g0050others(22): Show | 25 | 122 | 0.2049 | -2621 | c.-18 others(18): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DNM1_chr9_128198379_128260244 | 128198787 | GTGCCACT others(2611): Show |
G | upstream_gene_variant | MODIFIER | HG03195.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0021a0001c0004t0001g0019 | 2 | 350 | 0.0057 | -2618 | c.-46 others(11): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 4591 | chr9 | TogoVar | |||||||
| GNPNAT1_chr14_52770193_52796607 | 52785748 | AGCCTTTT others(2606): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02132.hp2 NA18940.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003a0001c0001t0003g0031a0001c0001t0003g0032others(2): Show | 23 | 390 | 0.0590 | -2613 | c.-15 others(17): Show |
GNPNAT1 | ENSG00000100522.10 | transcript | ENST00000216410.8 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
| AMDHD1_chr12_95938331_95973720 | 95946567 | TAAGAGAC others(2602): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(320): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(236): Show | 323 | 404 | 0.7995 | -2609 | c.137 others(17): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1343315 | GGCAGCTT others(2600): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG02886.hp1 HG02970.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0081a0005c0006t0001g0082a0005c0006t0001g0085 | 3 | 190 | 0.0158 | -2607 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1343270 | TTTTCCCC others(2599): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 190 | 0.0053 | -2606 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| KIAA1671_chr22_24947716_25202448 | 25054080 | GTGCCTGT others(2598): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01192.hp2 others(17): Show |
a0001a0002a0004 | a0001c0009a0001c0017a0001c0032others(10): Show | a0001c0009t0002a0001c0009t0034a0001c0017t0002others(12): Show | a0001c0009t0002g0101a0001c0009t0002g0162a0001c0009t0002g0180others(17): Show | 20 | 254 | 0.0787 | -2605 | c.453 others(19): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| KAT6B_chr10_74821600_75037624 | 75000048 | TGTAGTCC others(2596): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 236 | 0.0042 | -2603 | c.262 others(21): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| UIMC1_chr5_176900006_177011779 | 176960578 | TAAAAAAA others(2595): Show |
T | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 330 | 0.0030 | -2602 | c.120 others(19): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 6/14 | chr5 | TogoVar | |||||||
| UIMC1_chr5_176900006_177011779 | 176960578 | TAAAAAAA others(2594): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(202): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0003a0003c0004others(3): Show | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(8): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0011others(200): Show | 205 | 330 | 0.6212 | -2601 | c.120 others(19): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 6/14 | chr5 | TogoVar | |||||||
| DST_chr6_56452996_56959830 | 56893548 | TCCTACTT others(2593): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01074.hp1 others(45): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0005a0001c0058others(31): Show | a0001c0001t0001a0001c0005t0001a0001c0058t0001others(32): Show | a0001c0001t0001g0009a0001c0001t0001g0018a0001c0005t0001g0032others(45): Show | 48 | 84 | 0.5714 | -2600 | c.417 others(17): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 3/103 | chr6 | TogoVar | |||||||
| ADAMTS14_chr10_70667506_70767441 | 70688979 | AAGCCACT others(2592): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00738.hp1 others(28): Show |
a0001a0003a0004others(5): Show | a0001c0002a0001c0004a0001c0007others(16): Show | a0001c0002t0018a0001c0002t0041a0001c0004t0009others(19): Show | a0001c0002t0018g0090a0001c0002t0018g0095a0001c0002t0041g0075others(28): Show | 31 | 354 | 0.0876 | -2599 | c.523 others(19): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429644 | CGGTCTGG others(2592): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG01975.hp1 HG01978.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0002c0002t0002 | a0001c0001t0004g0172a0001c0001t0004g0314a0001c0001t0004g0316others(4): Show | 7 | 360 | 0.0194 | -2599 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429671 | TCAGCAGT others(2592): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0291 | 1 | 360 | 0.0028 | -2599 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PTGER3_chr1_70965782_71052816 | 71021492 | GGGTGACA others(2591): Show |
G | intron_variant | MODIFIER | HG03209.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0321 | 2 | 372 | 0.0054 | -2598 | c.898 others(18): Show |
PTGER3 | ENSG00000050628.21 | transcript | ENST00000306666.10 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
| ABHD4_chr14_22593300_22617963 | 22612377 | TAAAATTG others(2590): Show |
T | splice_region_variant | LOW | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0050 | 1 | 424 | 0.0024 | -2597 | c.*14 others(11): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 7/7 | chr14 | TogoVar | |||||||
| FCGR1A_chr1_149777694_149796675 | 149793568 | GAGGAATC others(2590): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG03471.hp2 |
a0002a0005 | a0002c0002a0005c0008 | a0002c0002t0001a0005c0008t0004 | a0002c0002t0001g0061a0005c0008t0004g0088a0005c0008t0004g0091 | 3 | 414 | 0.0073 | -2597 | c.*20 others(11): Show |
FCGR1A | ENSG00000150337.14 | transcript | ENST00000369168.5 | protein_coding | 1894 | chr1 | TogoVar | |||||||
| BRSK2_chr11_1384934_1467689 | 1430118 | GTCTGGTC others(2588): Show |
G | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0227 | 1 | 360 | 0.0028 | -2595 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
| PPP2R2B_chr5_146575742_146883757 | 146802276 | AGGTCAGT others(2585): Show |
A | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0064 | 1 | 170 | 0.0059 | -2592 | c.70+ others(17): Show |
PPP2R2B | ENSG00000156475.19 | transcript | ENST00000394411.9 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
| DEFA1B_chr8_6991766_7004198 | 7001607 | AGGGCTTC others(2584): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 398 | 0.0025 | -2591 | c.-50 others(11): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 2410 | chr8 | TogoVar | |||||||
| KIAA1522_chr1_32736830_32779970 | 32776178 | GCTCTTGT others(2584): Show |
G | downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 348 | 0.0029 | -2591 | c.*32 others(11): Show |
KIAA1522 | ENSG00000162522.11 | transcript | ENST00000401073.7 | protein_coding | 1209 | chr1 | TogoVar | |||||||
| YARS1_chr1_32770239_32822358 | 32776178 | GCTCTTGT others(2584): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 332 | 0.0030 | -2591 | c.147 others(16): Show |
YARS1 | ENSG00000134684.13 | transcript | ENST00000373477.9 | protein_coding | 12/12 | chr1 | TogoVar | |||||||
| CPNE4_chr3_131528569_132040014 | 131990436 | AAATGTTG others(2583): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0032a0001c0001t0001g0036a0001c0001t0001g0040others(16): Show | 19 | 94 | 0.2021 | -2590 | c.-2+ others(17): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
| OR10P1_chr12_55631892_55642833 | 55638090 | GCATCTTC others(2583): Show |
G | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02622.hp2 HG03516.hp2 others(2): Show |
a0003 | a0003c0007 | a0003c0007t0000 | a0003c0007t0000g0000 | 5 | 438 | 0.0114 | -2590 | c.*25 others(10): Show |
OR10P1 | ENSG00000175398.3 | transcript | ENST00000309675.3 | protein_coding | 258 | chr12 | TogoVar | |||||||
| STX8_chr17_9245471_9580820 | 9275629 | AGAGGCCA others(2571): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 188 | 0.0053 | -2578 | c.644 others(19): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
| ITIH6_chrX_54743918_54803255 | 54767069 | CTGTTATT others(2569): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0009 | a0009c0022 | a0009c0022t0002 | a0009c0022t0002g0044 | 1 | 296 | 0.0034 | -2576 | c.903 others(17): Show |
ITIH6 | ENSG00000102313.9 | transcript | ENST00000218436.7 | protein_coding | 6/12 | chrX | TogoVar | |||||||
| SYN2_chr3_11999388_12197032 | 12103349 | GCTTTTCT others(2569): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 264 | 0.0038 | -2576 | c.378 others(19): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | chr3 | TogoVar | |||||||
| NCAM1_chr11_112956420_113283436 | 113116653 | CAAGACTG others(2565): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0199a0001c0001t0014g0200 | 2 | 242 | 0.0083 | -2572 | c.53- others(17): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| SLC2A11_chr22_23852875_23891312 | 23853746 | TGAAAAAA others(2565): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(280): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0014others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0009a0001c0001t0002g0012a0001c0001t0002g0019others(233): Show | 283 | 415 | 0.6819 | -2572 | c.-42 others(11): Show |
SLC2A11 | ENSG00000133460.20 | transcript | ENST00000316185.9 | protein_coding | 4128 | chr22 | TogoVar | |||||||
| ASPH_chr8_61495556_61719592 | 61600302 | TCCTCTAA others(2564): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02723.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0019a0001c0001t0002g0040a0001c0001t0007g0179others(7): Show | 10 | 258 | 0.0388 | -2571 | c.976 others(19): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | |||||||
| ZNF880_chr19_52364923_52390795 | 52385560 | TGTATGCT others(2562): Show |
T | splice_region_variant | LOW | HG01358.hp2 | a0006 | a0006c0007 | a0006c0007t0008 | a0006c0007t0008g0002 | 1 | 458 | 0.0022 | -2569 | c.*24 others(10): Show |
ZNF880 | ENSG00000221923.9 | transcript | ENST00000422689.3 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
| ZNF880_chr19_52364923_52390795 | 52385562 | TATGCTGA others(2562): Show |
T | splice_region_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(78): Show |
a0001a0003a0006others(3): Show | a0001c0001a0003c0003a0003c0024others(4): Show | a0001c0001t0003a0003c0003t0003a0003c0024t0003others(4): Show | a0001c0001t0003g0154a0003c0003t0003g0002a0003c0003t0003g0009others(43): Show | 81 | 458 | 0.1769 | -2569 | c.*24 others(10): Show |
ZNF880 | ENSG00000221923.9 | transcript | ENST00000422689.3 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1397201 | TGAGTCGA others(2559): Show |
T | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0005 | 1 | 40 | 0.0250 | -2566 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1374360 | ACTGCCCA others(2558): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0037 | 2 | 115 | 0.0174 | -2565 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1371040 | ACACAGGG others(2557): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0048 | 1 | 115 | 0.0087 | -2564 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1374060 | GACCCTGT others(2557): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 115 | 0.0087 | -2564 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12416131 | CTTCTCTT others(2556): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 174 | 0.0058 | -2563 | c.42- others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1373839 | ACACAGGG others(2555): Show |
A | intron_variant | MODIFIER | HG02451.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084a0001c0001t0001g0104 | 2 | 115 | 0.0174 | -2562 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1373998 | CCTGAAAC others(2554): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 115 | 0.0087 | -2561 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745041 | CCCCGGGG others(2554): Show |
C | intron_variant | MODIFIER | NA18954.hp1 NA18966.hp2 NA18969.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0040 | a0001c0001t0001g0201a0001c0001t0001g0209a0001c0001t0001g0225others(1): Show | 4 | 366 | 0.0109 | -2561 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| CTSB_chr8_11837524_11873087 | 11863414 | ACACCACT others(2553): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0093 | a0001c0004t0093g0371 | 1 | 438 | 0.0023 | -2560 | c.-26 others(17): Show |
CTSB | ENSG00000164733.23 | transcript | ENST00000353047.11 | protein_coding | 1/9 | chr8 | TogoVar |