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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCL9_chr1_147536501_147631216 | 147541114 | AGAGAGGA others(70): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0158 | 1 | 316 | 0.0032 | -77 | c.-10 others(87): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 386 | chr1 | TogoVar | |||||||
BDH1_chr3_197504783_197560968 | 197510607 | TGTGTGTG others(70): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0212 | 1 | 319 | 0.0031 | -77 | c.*12 others(88): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1211 | chr3 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276317 | GTCTCCCT others(70): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0204 | 1 | 378 | 0.0027 | -77 | c.398 others(92): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241570740 | CGGATGGG others(70): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0169 | 1 | 434 | 0.0023 | -77 | c.513 others(92): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241570753 | GTCTGAGC others(70): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 434 | 0.0023 | -77 | c.513 others(92): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241570881 | GGGAGGGA others(70): Show |
G | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 | 1 | 434 | 0.0023 | -77 | c.513 others(92): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43100609 | CATATATA others(70): Show |
C | intron_variant | MODIFIER | HG00438.hp2 NA19079.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 a0002c0002t0002g0063 |
2 | 276 | 0.0073 | -77 | c.442 others(92): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126662712 | TCCTCCAT others(70): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01070.hp1 others(48): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0002c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 others(48): Show |
51 | 218 | 0.2339 | -77 | c.240 others(94): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126662718 | ATGCATTC others(70): Show |
A | intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0081 | 1 | 218 | 0.0046 | -77 | c.240 others(94): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1086620 | CCCTGGAG others(70): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 326 | 0.0031 | -77 | c.129 others(96): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44588485 | GACTCCCT others(70): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02615.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0102 a0001c0001t0004g0030 a0001c0001t0004g0031 others(2): Show |
5 | 198 | 0.0253 | -77 | c.377 others(98): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7499232 | TGTGTGTG others(70): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0057 | 1 | 58 | 0.0172 | -77 | c.510 others(96): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182038 | ACACCACA others(70): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02965.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0382 a0003c0003t0002g0383 |
2 | 460 | 0.0044 | -77 | c.193 others(94): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARD6_chr5_40836367_40860354 | 40850548 | CTAAAATA others(70): Show |
C | intron_variant | MODIFIER | HG02040.hp1 NA18952.hp2 NA19000.hp1 others(5): Show |
a0001a0021 | a0001c0001a0021c0021 | a0001c0001t0002a0021c0021t0002 | a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0188 others(1): Show |
8 | 440 | 0.0182 | -77 | c.842 others(94): Show |
CARD6 | ENSG00000132357.14 | transcript | ENST00000254691.10 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105831839 | GACAAGTG others(70): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 380 | 0.0026 | -77 | c.419 others(96): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882220 | GTAAGGAA others(70): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0189 | 1 | 288 | 0.0035 | -77 | c.303 others(96): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 419504 | CTGTGTGT others(70): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG01169.hp1 others(14): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0013 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0208 others(14): Show |
17 | 432 | 0.0394 | -77 | c.413 others(92): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 420197 | AATACACA others(70): Show |
A | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 432 | 0.0023 | -77 | c.413 others(94): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCL25_chr19_8047760_8067650 | 8058504 | AATATATT others(70): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01192.hp1 others(7): Show |
a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0025 a0004c0006t0003g0223 a0004c0006t0003g0224 others(5): Show |
10 | 428 | 0.0234 | -77 | c.445 others(92): Show |
CCL25 | ENSG00000131142.14 | transcript | ENST00000315626.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CD38_chr4_15773328_15858232 | 15791367 | CGCCCGGC others(70): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01123.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 others(18): Show |
22 | 344 | 0.0640 | -77 | c.233 others(96): Show |
CD38 | ENSG00000004468.13 | transcript | ENST00000226279.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDC34_chr19_526760_547087 | 540458 | GCCCCCCG others(70): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0071 | 1 | 328 | 0.0031 | -77 | c.498 others(92): Show |
CDC34 | ENSG00000099804.9 | transcript | ENST00000215574.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61350236 | TTCTCCCA others(70): Show |
T | intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0009 | a0002c0009t0034 | a0002c0009t0034g0009 | 1 | 106 | 0.0094 | -77 | c.169 others(96): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61565262 | GGTGGTGG others(70): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0009 | a0002c0009t0034 | a0002c0009t0034g0009 | 1 | 106 | 0.0094 | -77 | c.170 others(98): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61744433 | AGGGAGAG others(70): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00738.hp1 others(49): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(37): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0046 others(49): Show |
52 | 106 | 0.4906 | -77 | c.396 others(92): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21081968 | TACATGTA others(70): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01255.hp2 HG01361.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0192 a0001c0001t0002g0155 a0001c0001t0003g0113 others(14): Show |
17 | 196 | 0.0867 | -77 | c.123 others(98): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47541705 | AGAAAGAA others(70): Show |
A | intron_variant | MODIFIER | HG03041.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0323 a0001c0001t0013g0334 |
2 | 340 | 0.0059 | -77 | c.-15 others(98): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 632695 | GACCCAGT others(70): Show |
G | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 NA19010.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0026 |
3 | 91 | 0.0330 | -77 | c.513 others(93): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | TogoVar | |||||||
CFAP161_chr15_81129270_81154179 | 81129868 | TTTTTTTG others(70): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG01891.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0065 others(15): Show |
21 | 448 | 0.0469 | -77 | c.-44 others(88): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 4401 | chr15 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89652312 | TCACAGAC others(70): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0258 a0001c0001t0002g0019 a0001c0001t0002g0020 others(73): Show |
79 | 392 | 0.2015 | -77 | c.28- others(90): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
CHMP6_chr17_80986841_81005133 | 80994812 | GGGGGGCC others(70): Show |
G | intron_variant | MODIFIER | HG02055.hp1 NA19058.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0005 | a0001c0001t0002g0058 a0001c0002t0005g0044 |
2 | 438 | 0.0046 | -77 | c.173 others(92): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CLDN4_chr7_73825996_73837690 | 73836549 | CCCGGCCA others(70): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 372 | 0.0027 | -77 | c.*47 others(88): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 3860 | chr7 | TogoVar | |||||||
CLDN4_chr7_73825996_73837690 | 73836561 | CCCCATCC others(70): Show |
C | downstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 372 | 0.0027 | -77 | c.*47 others(88): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 3872 | chr7 | TogoVar | |||||||
CNTN1_chr12_40687439_41077415 | 41057039 | AATATTTA others(70): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0133 | 1 | 230 | 0.0044 | -77 | c.298 others(98): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500825 | TGTGGGGG others(70): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(31): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0120 others(31): Show |
34 | 292 | 0.1164 | -77 | c.268 others(96): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3590989 | TGGCTGGG others(70): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01069.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0002c0003t0001a0002c0004t0001 | a0001c0001t0001g0012 a0001c0001t0001g0187 a0001c0001t0001g0188 others(14): Show |
18 | 378 | 0.0476 | -77 | c.-42 others(88): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4122 | chr2 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137946765 | TTTAGTTA others(70): Show |
T | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 288 | 0.0035 | -77 | c.103 others(96): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314858 | ACCTGCCC others(70): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0005 | 1 | 159 | 0.0063 | -77 | c.*53 others(88): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4924 | chrX | TogoVar | |||||||
CYFIP1_chr15_22862052_22985368 | 22964276 | ACACACAC others(70): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG02258.hp2 HG02738.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0004others(1): Show | a0001c0001t0042a0001c0007t0001a0002c0004t0044others(1): Show | a0001c0001t0042g0084 a0001c0007t0001g0097 a0002c0004t0044g0072 others(1): Show |
4 | 342 | 0.0117 | -77 | c.-7+ others(94): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241757383 | GTATTTCA others(70): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(44): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0005a0001c0001t0012a0001c0001t0031others(21): Show | a0001c0001t0005g0006 a0001c0001t0012g0295 a0001c0001t0031g0164 others(41): Show |
47 | 412 | 0.1141 | -77 | c.130 others(96): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DACT2_chr6_168301904_168324777 | 168317427 | GTGCAAAC others(70): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0111 | 1 | 476 | 0.0021 | -77 | c.246 others(94): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
DCTN5_chr16_23636466_23682472 | 23665975 | CAAGCTGT others(70): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 314 | 0.0032 | -77 | c.451 others(92): Show |
DCTN5 | ENSG00000166847.10 | transcript | ENST00000300087.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DENND1C_chr19_6462207_6486787 | 6483138 | AGCCGAGA others(70): Show |
A | upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0168 | 1 | 420 | 0.0024 | -77 | c.-15 others(88): Show |
DENND1C | ENSG00000205744.10 | transcript | ENST00000381480.7 | protein_coding | 1352 | chr19 | TogoVar | |||||||
DGKQ_chr4_953887_978569 | 976230 | CCCCTACT others(70): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 438 | 0.0023 | -77 | c.-28 others(88): Show |
DGKQ | ENSG00000145214.14 | transcript | ENST00000273814.8 | protein_coding | 2662 | chr4 | TogoVar | |||||||
DHDDS_chr1_26427321_26476306 | 26439943 | ATCGTGGC others(70): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0173 a0002c0002t0001g0180 a0002c0002t0001g0181 others(4): Show |
7 | 314 | 0.0223 | -77 | c.180 others(94): Show |
DHDDS | ENSG00000117682.18 | transcript | ENST00000236342.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1181010 | ACACTTAC others(70): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0001 | a0002c0001t0019 | a0002c0001t0019g0030 | 1 | 40 | 0.0250 | -77 | c.74- others(94): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1252064 | TGTGTTGT others(70): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG03516.hp2 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0001 | a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 |
3 | 40 | 0.0750 | -77 | c.74- others(92): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51487392 | ATTTTTCA others(70): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG04204.hp1 NA18939.hp1 others(22): Show |
a0002a0015 | a0002c0004a0015c0024 | a0002c0004t0001a0002c0004t0008a0015c0024t0001 | a0002c0004t0001g0006 a0002c0004t0001g0297 a0002c0004t0001g0298 others(21): Show |
25 | 346 | 0.0723 | -77 | c.521 others(94): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 22/43 | chr15 | TogoVar | |||||||
DNAAF5_chr7_721699_791475 | 785223 | GGTCCCCA others(70): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG02132.hp1 HG02602.hp1 others(25): Show |
a0001a0016 | a0001c0001a0001c0019a0016c0028 | a0001c0001t0004a0001c0001t0014a0001c0019t0004others(1): Show | a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0106 others(23): Show |
28 | 378 | 0.0741 | -77 | c.243 others(94): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 785285 | ACATTGTG others(70): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 378 | 0.0027 | -77 | c.243 others(94): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132504035 | TTTTGGTA others(70): Show |
T | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 318 | 0.0031 | -77 | c.488 others(94): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |