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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DOCK8_chr9_209865_470255 | 400719 | C | CCACCACC others(32): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02723.hp1 |
a0005a0012 | a0005c0013a0012c0106 | a0005c0013t0001a0012c0106t0008 | a0005c0013t0001g0190 a0012c0106t0008g0075 |
2 | 162 | 0.0123 | 39 | c.323 others(58): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400963 | C | CATCGCCC others(32): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03041.hp1 HG03195.hp2 |
a0001a0023 | a0001c0012a0023c0101 | a0001c0012t0001a0023c0101t0004 | a0001c0012t0001g0023 a0001c0012t0001g0024 a0023c0101t0004g0054 |
3 | 229 | 0.0131 | 39 | c.323 others(58): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOK1_chr2_74549720_74562551 | 74561202 | G | GAGGAGGA others(32): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG03225.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 |
3 | 311 | 0.0096 | 39 | c.*40 others(50): Show |
DOK1 | ENSG00000115325.14 | transcript | ENST00000233668.10 | protein_coding | 3652 | chr2 | TogoVar | |||||||
DONSON_chr21_33572551_33593684 | 33583200 | C | CAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02109.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0133 a0001c0001t0001g0282 others(1): Show |
4 | 43 | 0.0930 | 39 | c.964 others(54): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 5/9 | chr21 | TogoVar | |||||||
DPH6_chr15_35365880_35551165 | 35496567 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 55 | 0.0182 | 39 | c.312 others(58): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
DPH6_chr15_35365880_35551165 | 35496567 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 55 | 0.0182 | 39 | c.312 others(58): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
DPP10_chr2_114437641_115850780 | 115334230 | G | GTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 13 | 0.0769 | 39 | c.176 others(56): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPT_chr1_168690468_168734206 | 168725203 | T | TCTTCCTT others(32): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 436 | 0.0023 | 39 | c.305 others(56): Show |
DPT | ENSG00000143196.5 | transcript | ENST00000367817.4 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
DPT_chr1_168690468_168734206 | 168725248 | C | CCTTTCCT others(32): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 436 | 0.0023 | 39 | c.305 others(56): Show |
DPT | ENSG00000143196.5 | transcript | ENST00000367817.4 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
DRC7_chr16_57689806_57736805 | 57691122 | A | AAGAAGGA others(32): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | 39 | c.-38 others(50): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 3683 | chr16 | TogoVar | |||||||
DRG2_chr17_18082948_18112969 | 18090406 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 | 1 | 145 | 0.0069 | 39 | c.64+ others(54): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31421897 | A | AAATATAT others(32): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0015 | a0004c0015t0003 | a0004c0015t0003g0301 | 1 | 259 | 0.0039 | 39 | c.342 others(56): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31421898 | T | TATATATA others(32): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01358.hp2 HG03130.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0001a0001c0003t0003a0001c0010t0001others(1): Show | a0001c0002t0001g0167 a0001c0002t0001g0212 a0001c0003t0003g0090 others(2): Show |
5 | 116 | 0.0431 | 39 | c.342 others(56): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DSG4_chr18_31371777_31419909 | 31411386 | A | ACCTCAGG others(32): Show |
conservative_inframe_insertion | MODERATE | HG02109.hp2 | a0015 | a0015c0031 | a0015c0031t0013 | a0015c0031t0013g0090 | 1 | 336 | 0.0030 | 39 | c.229 others(48): Show |
p.Thr others(52): Show |
DSG4 | ENSG00000175065.12 | transcript | ENST00000308128.9 | protein_coding | 15/16 | 2431/4572 | 2296/3123 | 766/1040 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||
DTX2_chr7_76456709_76510991 | 76486884 | C | CTGCTGCT others(32): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03471.hp2 HG06807.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0068 a0003c0005t0001g0070 a0003c0005t0001g0076 |
3 | 176 | 0.0170 | 39 | c.908 others(56): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DUS3L_chr19_5780140_5796163 | 5796129 | G | GCCTTCTT others(32): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0001 | 1 | 122 | 0.0082 | 39 | c.-49 others(50): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 4967 | chr19 | TogoVar | |||||||
DUSP22_chr6_287487_356355 | 308102 | T | TGACCTTC others(32): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 | 1 | 220 | 0.0045 | 39 | c.55+ others(54): Show |
DUSP22 | ENSG00000112679.15 | transcript | ENST00000419235.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57155663 | A | AGATAGAT others(32): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 444 | 0.0023 | 39 | c.439 others(54): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57165324 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 197 | 0.0051 | 39 | c.25+ others(54): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1339865 | C | CGCCCCCG others(32): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 342 | 0.0029 | 39 | c.910 others(52): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 8/14 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1339884 | A | AAAGCCGC others(32): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 42 | 0.0238 | 39 | c.910 others(52): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 8/14 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1339884 | A | ACAGCCGC others(32): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0010others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(116): Show |
278 | 319 | 0.8715 | 39 | c.910 others(52): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 8/14 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1339884 | A | ACAGCCGC others(32): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 42 | 0.0238 | 39 | c.910 others(53): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 8/14 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1350047 | G | GGAGCGAC others(32): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 342 | 0.0029 | 39 | c.-98 others(48): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 630 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1351109 | G | GGGGGCCT others(32): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 342 | 0.0029 | 39 | c.-20 others(50): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 1692 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1351446 | T | TGGAGCGG others(32): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 | a0005 | a0005c0009 | a0005c0009t0003 | a0005c0009t0003g0039 | 1 | 342 | 0.0029 | 39 | c.-23 others(50): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 2029 | chr1 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49317582 | T | TCCTCCTC others(32): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0105 | 1 | 286 | 0.0035 | 39 | c.763 others(58): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49317646 | C | CTCCTCTC others(32): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 187 | 0.0053 | 39 | c.763 others(58): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYNC1LI1_chr3_32520974_32575858 | 32532480 | A | ATGTGTAT others(32): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 275 | 0.0036 | 39 | c.108 others(56): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 8/12 | chr3 | TogoVar | |||||||
DYNC1LI1_chr3_32520974_32575858 | 32537927 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 a0001c0001t0002g0251 |
2 | 285 | 0.0070 | 39 | c.739 others(54): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
DYRK1A_chr21_37361773_37531358 | 37417532 | T | TTTCTTTT others(32): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0291 | 1 | 312 | 0.0032 | 39 | c.-76 others(56): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108633682 | A | ATCTCTCT others(32): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0106 | 1 | 314 | 0.0032 | 39 | c.816 others(54): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 9/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
E2F2_chr1_23501438_23536233 | 23504413 | G | GCCCCTTC others(32): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0175 | 1 | 394 | 0.0025 | 39 | c.*54 others(50): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 2024 | chr1 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26005493 | T | TTATAAAA others(32): Show |
intron_variant | MODIFIER | HG02055.hp2 HG06807.hp2 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0104 a0002c0003t0005g0105 |
2 | 218 | 0.0092 | 39 | c.551 others(58): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
ECPAS_chr9_111355685_111489383 | 111480831 | T | TGGAATTA others(32): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0294 | 1 | 352 | 0.0028 | 39 | c.-83 others(56): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
EDRF1_chr10_125714709_125769139 | 125757714 | T | TGGTGGGG others(32): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 320 | 0.0031 | 39 | c.354 others(58): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 24/24 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 184 | 0.0054 | 39 | c.400 others(56): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0348 | 1 | 184 | 0.0054 | 39 | c.400 others(56): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0150 | 1 | 184 | 0.0054 | 39 | c.400 others(56): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 a0001c0001t0003g0135 |
2 | 185 | 0.0108 | 39 | c.400 others(56): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128150963 | A | ATATATTA others(32): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG03041.hp1 |
a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0048 a0002c0005t0003g0049 |
2 | 270 | 0.0074 | 39 | c.-25 others(50): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 2517 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152937 | C | CCGCCGTC others(32): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 258 | 0.0039 | 39 | c.-57 others(48): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 543 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152991 | C | CCCGCCCC others(32): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 220 | 0.0045 | 39 | c.-51 others(48): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 489 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152991 | C | CCCGCCCC others(32): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0189 |
2 | 221 | 0.0090 | 39 | c.-51 others(48): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 489 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152991 | C | CCCGCCCC others(32): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 220 | 0.0045 | 39 | c.-51 others(48): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 489 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152991 | C | CCGCCCCC others(32): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 220 | 0.0045 | 39 | c.-51 others(48): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 489 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152991 | C | CCGCCCCC others(32): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0175 |
2 | 221 | 0.0090 | 39 | c.-51 others(48): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 489 | chr3 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36183888 | T | TTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 13 | 0.0769 | 39 | c.878 others(58): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89944856 | T | TTAATAAA others(32): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01255.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0150 a0001c0001t0002g0029 a0001c0001t0002g0030 others(23): Show |
26 | 256 | 0.1016 | 39 | c.217 others(56): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
EFCAB12_chr3_129396321_129433636 | 129426689 | T | TTAATTGA others(32): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 384 | 0.0026 | 39 | c.49+ others(54): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 1/8 | chr3 | TogoVar |