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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP2_chr8_732628_1713476 | 1393197 | CCCTCCTC others(4983): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0040 | 1 | 40 | 0.0250 | -4990 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75498141 | ATGATTTA others(4978): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0269 | 1 | 334 | 0.0030 | -4985 | c.231 others(17): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41055245 | GGAGAGGA others(4978): Show |
G | upstream_gene_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 1 | 370 | 0.0027 | -4985 | c.-50 others(9): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 16 | chr17 | TogoVar | |||||||
OR6Y1_chr1_158539550_158559405 | 158546972 | CATGATTG others(4974): Show |
C | start_lost others(2): Show |
HIGH | HG02451.hp1 HG03041.hp2 HG03098.hp1 others(3): Show |
a0002 | a0002c0000 | a0002c0000t0010a0002c0000t0030 | a0002c0000t0010g0016 a0002c0000t0010g0053 a0002c0000t0030g0054 |
6 | 428 | 0.0140 | -4981 | c.-14 others(15): Show |
p.Met others(11): Show |
OR6Y1 | ENSG00000197532.3 | transcript | ENST00000641622.1 | protein_coding | 2/2 | 2705/5128 | 1/978 | 1/325 | chr1 | TogoVar | |||
TMEM154_chr4_152613628_152684997 | 152646452 | GAGCAGAG others(4969): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0175 | 1 | 298 | 0.0034 | -4976 | c.364 others(17): Show |
TMEM154 | ENSG00000170006.13 | transcript | ENST00000304385.8 | protein_coding | 3/6 | chr4 | TogoVar | |||||||
ANO5_chr11_22188085_22288357 | 22228256 | CAAGTGTT others(4967): Show |
C | intron_variant | MODIFIER | HG03195.hp1 HG03516.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0017 a0001c0001t0014g0196 |
3 | 362 | 0.0083 | -4974 | c.648 others(16): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106376516 | AGGCTGGA others(4965): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 270 | 0.0037 | -4972 | c.173 others(19): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SIGLEC5_chr19_51605960_51635401 | 51630430 | CCCCGACA others(4964): Show |
C | upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 412 | 0.0024 | -4971 | c.-50 others(9): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 30 | chr19 | TogoVar | |||||||
OR9A4_chr7_141911399_141925625 | 141920665 | TTCTTTTT others(4953): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0016 others(10): Show |
53 | 444 | 0.1194 | -4960 | c.*84 others(10): Show |
OR9A4 | ENSG00000258083.2 | transcript | ENST00000641559.1 | protein_coding | 41 | chr7 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17678570 | ATTCTGCC others(4952): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG01934.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(8): Show |
11 | 160 | 0.0688 | -4959 | c.-10 others(21): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2277395 | GGGAGAGA others(4941): Show |
G | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 48 | 0.0208 | -4948 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1393147 | TGCCACCT others(4938): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 33 | 0.0303 | -4945 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MFNG_chr22_37464063_37491384 | 37464782 | AAGCCCAA others(4938): Show |
A | splice_region_variant | LOW | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 290 | 0.0034 | -4945 | c.*23 others(10): Show |
MFNG | ENSG00000100060.18 | transcript | ENST00000356998.8 | protein_coding | 8/8 | chr22 | TogoVar | |||||||
ZNF140_chr12_133075923_133112428 | 133090534 | TATGAAGG others(4929): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 390 | 0.0026 | -4936 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF140_chr12_133075923_133112428 | 133090589 | AAGAGACT others(4929): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 361 | 0.0028 | -4936 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF140_chr12_133075923_133112428 | 133090839 | ACTATGCC others(4929): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03453.hp1 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0172 |
3 | 383 | 0.0078 | -4936 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ZNF140_chr12_133075923_133112428 | 133090661 | CTCAGCAT others(4928): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0061 | 1 | 389 | 0.0026 | -4935 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF140_chr12_133075923_133112428 | 133091033 | ACAGGAGA others(4928): Show |
A | intron_variant | MODIFIER | NA18949.hp2 NA19004.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 a0001c0001t0003g0222 a0001c0001t0003g0223 |
3 | 161 | 0.0186 | -4935 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF140_chr12_133075923_133112428 | 133091132 | CGGTCAGG others(4928): Show |
C | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0247 | 1 | 384 | 0.0026 | -4935 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF140_chr12_133075923_133112428 | 133091209 | TCAAGGGC others(4928): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 382 | 0.0026 | -4935 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF140_chr12_133075923_133112428 | 133091375 | TGTTTTTG others(4926): Show |
T | intron_variant | MODIFIER | HG01243.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0235 a0001c0001t0009g0095 |
2 | 390 | 0.0051 | -4933 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GOLGA8G_chr15_28514611_28537971 | 28521486 | AGCTTTCC others(4921): Show |
A | exon_loss_variant | HIGH | HG02055.hp1 HG02145.hp1 HG02809.hp2 others(2): Show |
a0003 | a0003c0003a0003c0014 | a0003c0003t0004a0003c0003t0008a0003c0014t0004 | a0003c0003t0004g0005 a0003c0003t0008g0021 a0003c0014t0004g0020 |
5 | 100 | 0.0500 | -4928 | c.101 others(10): Show |
GOLGA8G | ENSG00000183629.14 | transcript | ENST00000525590.3 | protein_coding | 18/19 | 3095/4971 | chr15 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38423792 | AGGCAGAT others(4920): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0100a0001c0001t0101 | a0001c0001t0100g0142 a0001c0001t0101g0013 |
2 | 222 | 0.0090 | -4927 | c.115 others(21): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
ZNF564_chr19_12520373_12556482 | 12550018 | CGCGGTGG others(4920): Show |
C | exon_loss_variant others(1): Show |
HIGH | NA18999.hp1 | a0005 | a0005c0008 | a0005c0008t0013 | a0005c0008t0013g0042 | 1 | 410 | 0.0024 | -4927 | c.-36 others(12): Show |
ZNF564 | ENSG00000249709.8 | transcript | ENST00000339282.12 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
HBG1_chr11_5243269_5254857 | 5249253 | CCCCAACC others(4917): Show |
C | exon_loss_variant | HIGH | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 327 | 0.0031 | -4924 | c.-43 others(13): Show |
HBG1 | ENSG00000213934.9 | transcript | ENST00000330597.5 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
HBG1_chr11_5243269_5254857 | 5249456 | GTGGCATC others(4917): Show |
G | exon_loss_variant | HIGH | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 60 | 0.0167 | -4924 | c.-45 others(9): Show |
HBG1 | ENSG00000213934.9 | transcript | ENST00000330597.5 | protein_coding | 1/3 | 279/587 | chr11 | TogoVar | ||||||
HBG2_chr11_5248188_5259781 | 5249253 | CCCCAACC others(4917): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 322 | 0.0031 | -4924 | c.315 others(13): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 214124215 | CATGATTG others(4915): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0028 | 1 | 86 | 0.0116 | -4922 | c.159 others(21): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 14/15 | chr2 | TogoVar | |||||||
HBG1_chr11_5243269_5254857 | 5249028 | CGACCATA others(4913): Show |
C | exon_loss_variant | HIGH | HG01123.hp1 HG02132.hp1 |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0014 | 2 | 432 | 0.0046 | -4920 | c.-41 others(13): Show |
HBG1 | ENSG00000213934.9 | transcript | ENST00000330597.5 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
HBG2_chr11_5248188_5259781 | 5249028 | CGACCATA others(4913): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG01123.hp1 HG02132.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 2 | 428 | 0.0047 | -4920 | c.315 others(13): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
GRHL2_chr8_101487439_101674726 | 101609647 | TAAAGGGA others(4908): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0028 | a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0239 others(3): Show |
6 | 304 | 0.0197 | -4915 | c.109 others(19): Show |
GRHL2 | ENSG00000083307.12 | transcript | ENST00000646743.1 | protein_coding | 8/15 | chr8 | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51630487 | TGGGCATC others(4907): Show |
T | upstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 412 | 0.0024 | -4914 | c.-50 others(10): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 87 | chr19 | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51630492 | ATCACGTG others(4902): Show |
A | upstream_gene_variant | MODIFIER | HG03491.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0023 | 1 | 412 | 0.0024 | -4909 | c.-50 others(10): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 92 | chr19 | TogoVar | |||||||
C2orf78_chr2_73779183_73822148 | 73799983 | CACAAACA others(4897): Show |
C | intron_variant | MODIFIER | HG02922.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 202 | 0.0099 | -4904 | c.98- others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136069476 | AAGGCGGA others(4897): Show |
A | intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 346 | 0.0029 | -4904 | c.-60 others(19): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
C2orf78_chr2_73779183_73822148 | 73784423 | TTTAAAAA others(4894): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0055 | 1 | 209 | 0.0048 | -4901 | c.97+ others(13): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73785037 | GTCAATGC others(4894): Show |
G | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 209 | 0.0048 | -4901 | c.97+ others(15): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73797982 | AGGGAGAG others(4893): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02647.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0060 |
3 | 209 | 0.0144 | -4900 | c.97+ others(17): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73798125 | AAAAGGGG others(4893): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00621.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(4): Show |
16 | 205 | 0.0780 | -4900 | c.98- others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73801460 | CGTCTTAC others(4893): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01071.hp1 HG01192.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(4): Show |
19 | 201 | 0.0945 | -4900 | c.98- others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73802088 | GGCTGACA others(4893): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 209 | 0.0048 | -4900 | c.98- others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73802182 | GAGGCACG others(4893): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG03579.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0062 |
3 | 210 | 0.0143 | -4900 | c.98- others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152320452 | GTGGCCAG others(4893): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0153 | 1 | 170 | 0.0059 | -4900 | c.389 others(17): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 3/58 | chr7 | TogoVar | |||||||
C2orf78_chr2_73779183_73822148 | 73783350 | GATTCAAG others(4884): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01167.hp1 HG02258.hp1 HG02280.hp2 others(3): Show |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0004 | 6 | 210 | 0.0286 | -4891 | c.-95 others(12): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76505236 | GATACACG others(4884): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(139): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0004a0001c0018others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0020 others(139): Show |
142 | 272 | 0.5221 | -4891 | c.236 others(20): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 15/23 | chr16 | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51630515 | GGGGGCTG others(4879): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0008others(10): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0005others(13): Show | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0011 others(88): Show |
117 | 403 | 0.2903 | -4886 | c.-50 others(10): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 115 | chr19 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134268536 | CACGGTGA others(4861): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00738.hp1 others(35): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0065 others(35): Show |
38 | 248 | 0.1532 | -4868 | c.70- others(16): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2277338 | AAGAAAGA others(4860): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0043 | 1 | 46 | 0.0217 | -4867 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18415003 | GTATTTAA others(4857): Show |
G | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 200 | 0.0050 | -4864 | c.333 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18415003 | GTATTTAA others(4857): Show |
G | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 300 | 0.0033 | -4864 | c.171 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |