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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TWIST2_chr2_238843085_238915534 | 238870189 | A | ACACCCCC others(601): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 295 | 0.0034 | 608 | c.*35 others(627): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159063777 | A | AGGTGGGG others(601): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0223 | 1 | 232 | 0.0043 | 608 | c.358 others(625): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159088856 | A | AGCTCCTC others(601): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01978.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0031others(2): Show | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 others(7): Show |
10 | 37 | 0.2703 | 608 | c.357 others(627): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(601): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 177 | 0.0056 | 608 | c.53+ others(623): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(601): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 177 | 0.0056 | 608 | c.53+ others(623): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(601): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0277 | 1 | 25 | 0.0400 | 608 | c.483 others(623): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(601): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 100 | 0.0100 | 608 | c.-10 others(625): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZBTB42_chr14_104796101_104809712 | 104808338 | G | GAGCACCC others(601): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 70 | 0.0143 | 608 | c.*58 others(619): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 3627 | chr14 | TogoVar | |||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(601): Show |
intron_variant | MODIFIER | NA18955.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0215 a0001c0001t0016g0181 |
2 | 45 | 0.0444 | 608 | c.-1- others(625): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(601): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18970.hp1 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0024a0001c0001t0063 | a0001c0001t0003g0066 a0001c0001t0024g0080 a0001c0001t0063g0135 |
3 | 46 | 0.0652 | 608 | c.-1- others(625): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(601): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0126 | 1 | 44 | 0.0227 | 608 | c.-1- others(625): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(601): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01255.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0117 | a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0001t0002g0059 others(2): Show |
5 | 48 | 0.1042 | 608 | c.-1- others(625): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(602): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0209 | 1 | 57 | 0.0175 | 609 | c.409 others(628): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(602): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0208 | 1 | 57 | 0.0175 | 609 | c.409 others(628): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(602): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0100 | 1 | 57 | 0.0175 | 609 | c.62+ others(622): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(602): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 223 | 0.0045 | 609 | c.*36 others(620): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835508 | G | GTCCAGGC others(602): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 2 | 268 | 0.0075 | 609 | c.*36 others(620): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3491 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835508 | G | GTCCAGGC others(602): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 267 | 0.0037 | 609 | c.*36 others(620): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3491 | chr19 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(602): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 86 | 0.0116 | 609 | c.*21 others(624): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585233 | A | ATTGAGGG others(602): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0004 | a0002c0004t0044 | a0002c0004t0044g0279 | 1 | 335 | 0.0030 | 609 | c.-22 others(626): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585358 | G | GAGGAGGG others(602): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0340 | 1 | 322 | 0.0031 | 609 | c.-22 others(626): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585359 | G | GGGAGGGG others(602): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0013 | a0001c0001t0011g0132 a0001c0001t0013g0191 |
2 | 204 | 0.0098 | 609 | c.-22 others(626): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585436 | A | ATTGAGGG others(602): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0147 | 1 | 140 | 0.0071 | 609 | c.-22 others(626): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(602): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0020 | 1 | 261 | 0.0038 | 609 | c.-22 others(626): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(602): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 261 | 0.0038 | 609 | c.-22 others(626): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138126363 | G | GAGGCCAT others(602): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0010 | a0002c0010t0012 | a0002c0010t0012g0209 | 1 | 189 | 0.0053 | 609 | c.*43 others(620): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1745 | chr9 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255344 | A | ATATATAT others(602): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0182 | 1 | 249 | 0.0040 | 609 | c.907 others(624): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(602): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 243 | 0.0041 | 609 | c.666 others(624): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803012 | G | GGGGGCCC others(602): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | 609 | c.666 others(624): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803012 | G | GGGGGCCC others(602): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 376 | 0.0027 | 609 | c.666 others(624): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(602): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 218 | 0.0046 | 609 | c.666 others(624): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGGCCC others(602): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0010 | a0010c0012 | a0010c0012t0002 | a0010c0012t0002g0220 | 1 | 332 | 0.0030 | 609 | c.666 others(624): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882453 | C | CGGGAGAA others(602): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0064 | 1 | 140 | 0.0071 | 609 | c.303 others(628): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(602): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0010t0027 | a0001c0001t0002g0275 a0001c0010t0027g0272 |
2 | 28 | 0.0714 | 609 | c.349 others(624): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1328943 | C | CCATCCAG others(602): Show |
intron_variant | MODIFIER | HG00738.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 2 | 366 | 0.0055 | 609 | c.108 others(628): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2705509 | A | ATATATAA others(602): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0115 | 1 | 42 | 0.0238 | 609 | c.56- others(626): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45431488 | A | AGGGGGGC others(602): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 128 | 0.0078 | 609 | c.106 others(628): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924947 | G | GTCCCCAC others(602): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
a0001a0002a0008others(7): Show | a0001c0001a0002c0002a0002c0033others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0104 a0001c0001t0001g0191 a0001c0001t0002g0250 others(26): Show |
29 | 253 | 0.1146 | 609 | c.489 others(624): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924947 | G | GTCCCCAC others(602): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0318 | 1 | 225 | 0.0044 | 609 | c.489 others(624): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924947 | G | GTCCCCAC others(602): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01358.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0002 | a0001c0001t0002g0262 a0001c0001t0004g0289 a0002c0002t0002g0261 others(2): Show |
5 | 229 | 0.0218 | 609 | c.489 others(624): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924947 | G | GTCCCCAC others(602): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02129.hp1 HG02155.hp1 others(3): Show |
a0001a0002a0022others(1): Show | a0001c0001a0002c0002a0022c0091others(1): Show | a0001c0001t0001a0002c0002t0001a0022c0091t0001others(1): Show | a0001c0001t0001g0177 a0002c0002t0001g0173 a0002c0002t0001g0174 others(3): Show |
6 | 230 | 0.0261 | 609 | c.489 others(624): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003587 | A | ACGTGCAC others(602): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 407 | 0.0025 | 609 | c.*27 others(620): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1283 | chr16 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(602): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 164 | 0.0061 | 609 | c.923 others(628): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397726 | C | CGGGGGGT others(602): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 325 | 0.0031 | 609 | c.-42 others(620): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4158 | chr16 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400500 | C | CCACCATC others(602): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0012 | a0012c0106 | a0012c0106t0008 | a0012c0106t0008g0075 | 1 | 235 | 0.0043 | 609 | c.323 others(628): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005367 | A | AATATATA others(602): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 173 | 0.0058 | 609 | c.551 others(628): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EPHB2_chr1_22705839_22926500 | 22754841 | G | GGAGGTGA others(602): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0021 | a0001c0001t0012g0145 a0001c0001t0021g0072 |
2 | 66 | 0.0303 | 609 | c.62- others(626): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539983 | C | CATATATA others(602): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0019 | a0019c0030 | a0019c0030t0008 | a0019c0030t0008g0022 | 1 | 218 | 0.0046 | 609 | c.-23 others(620): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1739 | chr5 | TogoVar | |||||||
FGL1_chr8_17859389_17900524 | 17882814 | A | AATATATA others(602): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01257.hp1 HG01361.hp2 others(13): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0003 a0005c0005t0001g0100 a0005c0005t0001g0207 others(6): Show |
16 | 189 | 0.0847 | 609 | c.64- others(622): Show |
FGL1 | ENSG00000104760.17 | transcript | ENST00000427924.5 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218085 | C | CCCCCACA others(602): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0004 | 1 | 94 | 0.0106 | 609 | c.*25 others(620): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 916 | chr8 | TogoVar |