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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(874): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0019 | 2 | 468 | 0.0043 | 881 | c.-6- others(896): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(874): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0091 | 1 | 202 | 0.0050 | 881 | c.*53 others(892): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466993 | T | TGGTGTGT others(874): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0028 | a0028c0031 | a0028c0031t0001 | a0028c0031t0001g0007 | 1 | 271 | 0.0037 | 881 | c.*61 others(890): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 484 | chrX | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876166 | C | CCCCCCTT others(874): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 246 | 0.0041 | 881 | c.-10 others(898): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236756433 | C | CGCTGCCA others(875): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0024 | a0001c0024t0003 | a0001c0024t0003g0014 | 1 | 344 | 0.0029 | 882 | c.215 others(901): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236756433 | C | CGCTGCCA others(875): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 344 | 0.0029 | 882 | c.215 others(901): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236756923 | C | CGCTGCCA others(875): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0339 | 1 | 344 | 0.0029 | 882 | c.215 others(899): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111144 | T | TCTCCTAA others(875): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0045 | 1 | 368 | 0.0027 | 882 | c.401 others(899): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111534 | A | ACCAGACC others(875): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0019 | 1 | 368 | 0.0027 | 882 | c.401 others(899): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111641 | A | ACACCTCC others(875): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 368 | 0.0027 | 882 | c.401 others(899): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111877 | C | CACCTGCC others(875): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280 | 1 | 368 | 0.0027 | 882 | c.401 others(899): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111893 | A | ACACCTCC others(875): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0160 | 1 | 368 | 0.0027 | 882 | c.401 others(899): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133112019 | A | ACACCTCC others(875): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0231 | 1 | 368 | 0.0027 | 882 | c.401 others(899): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANKRD11_chr16_89262630_89495561 | 89429090 | T | TTCTCAAC others(875): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02809.hp1 |
a0001a0008a0029 | a0001c0018a0008c0059a0029c0049 | a0001c0018t0001a0008c0059t0001a0029c0049t0001 | a0001c0018t0001g0266a0008c0059t0001g0264a0029c0049t0001g0265 | 3 | 310 | 0.0097 | 882 | c.-14 others(903): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89429194 | A | ACGTTCTA others(875): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0038 | 1 | 310 | 0.0032 | 882 | c.-14 others(903): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60349867 | C | CAGGGGAA others(875): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 334 | 0.0030 | 882 | c.838 others(897): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(875): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 334 | 0.0030 | 882 | c.838 others(897): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687476 | C | CCCCGTGA others(875): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0156 | 1 | 246 | 0.0041 | 882 | c.-18 others(893): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1631 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1833057 | G | GACAGAAG others(875): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0046a0001c0047a0001c0123 | a0001c0046t0001a0001c0047t0009a0001c0123t0001 | a0001c0046t0001g0332a0001c0046t0001g0333a0001c0047t0009g0331others(2): Show | 5 | 363 | 0.0138 | 882 | c.-48 others(899): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1833057 | G | GACAGAAG others(875): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG02083.hp2 others(13): Show |
a0001a0002a0016 | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0006a0001c0003t0063a0001c0004t0013others(13): Show | a0001c0001t0006g0115a0001c0003t0063g0089a0001c0004t0013g0018others(13): Show | 16 | 363 | 0.0441 | 882 | c.-48 others(899): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(875): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0165 | 1 | 210 | 0.0048 | 882 | c.273 others(899): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(875): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01261.hp2 HG01515.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137a0001c0001t0002g0183a0001c0001t0002g0187others(5): Show | 8 | 326 | 0.0245 | 882 | c.327 others(899): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(875): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0221 | 1 | 398 | 0.0025 | 882 | c.666 others(897): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(875): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0199 | 1 | 252 | 0.0040 | 882 | c.-29 others(893): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(875): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG02004.hp1 others(6): Show |
a0003a0020 | a0003c0004a0020c0028 | a0003c0004t0003a0020c0028t0003 | a0003c0004t0003g0078a0003c0004t0003g0088a0003c0004t0003g0089others(6): Show | 9 | 252 | 0.0357 | 882 | c.-29 others(893): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(875): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 |
a0005a0017 | a0005c0025a0017c0037 | a0005c0025t0005a0017c0037t0005 | a0005c0025t0005g0140a0017c0037t0005g0138 | 2 | 236 | 0.0085 | 882 | c.342 others(901): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89647648 | G | GGACCCAG others(875): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 392 | 0.0026 | 882 | c.253 others(897): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648237 | G | GACCCAGT others(875): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295 | 1 | 392 | 0.0026 | 882 | c.253 others(897): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648309 | C | CGCCGACG others(875): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 392 | 0.0026 | 882 | c.253 others(897): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648435 | C | CGCCGACG others(875): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 392 | 0.0026 | 882 | c.252 others(897): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500846 | G | GTGTGTGT others(875): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 NA21309.hp1 |
a0001a0018a0019 | a0001c0041a0018c0095a0019c0096 | a0001c0041t0001a0018c0095t0001a0019c0096t0015 | a0001c0041t0001g0155a0018c0095t0001g0146a0019c0096t0015g0045 | 3 | 292 | 0.0103 | 882 | c.268 others(901): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(875): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0247 | 1 | 264 | 0.0038 | 882 | c.181 others(901): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(875): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18953.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0126a0001c0002t0002g0168 | 2 | 264 | 0.0076 | 882 | c.181 others(901): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138742298 | G | GTGATTGT others(875): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02717.hp1 HG03041.hp1 others(1): Show |
a0001a0006 | a0001c0006a0001c0008a0001c0014others(1): Show | a0001c0006t0001a0001c0008t0002a0001c0014t0001others(1): Show | a0001c0006t0001g0060a0001c0008t0002g0096a0001c0014t0001g0126others(1): Show | 4 | 158 | 0.0253 | 882 | c.208 others(901): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 22/64 | chr8 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GGGGCAGG others(875): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0033 | 1 | 344 | 0.0029 | 882 | c.85- others(899): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79726798 | G | GGGTGACG others(875): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01952.hp1 HG02074.hp2 others(8): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0003 | a0004c0004t0001g0307a0004c0004t0001g0312a0004c0004t0001g0314others(8): Show | 11 | 378 | 0.0291 | 882 | c.241 others(901): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79726798 | G | GGGTGACG others(875): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0319 | 1 | 378 | 0.0027 | 882 | c.241 others(901): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113232218 | G | GTCACCAC others(875): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 396 | 0.0025 | 882 | c.513 others(897): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(875): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0059 | 1 | 216 | 0.0046 | 882 | c.923 others(901): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(875): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 | 1 | 230 | 0.0044 | 882 | c.724 others(901): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1384639 | T | TCCCCTGA others(875): Show |
intron_variant | MODIFIER | HG01071.hp1 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0001 | a0001c0002t0006g0011a0001c0003t0001g0025 | 2 | 40 | 0.0500 | 882 | c.107 others(903): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1384639 | T | TCCCCTGA others(875): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02895.hp1 others(2): Show |
a0001a0003 | a0001c0003a0001c0010a0003c0005 | a0001c0003t0001a0001c0010t0025a0003c0005t0002others(1): Show | a0001c0003t0001g0026a0001c0003t0001g0027a0001c0010t0025g0012others(2): Show | 5 | 40 | 0.1250 | 882 | c.107 others(903): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77252863 | C | CCACCACC others(875): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0288 | 1 | 366 | 0.0027 | 882 | c.666 others(899): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(875): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0058 | 1 | 314 | 0.0032 | 882 | c.310 others(897): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399238 | C | CCACCATC others(875): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 314 | 0.0032 | 882 | c.-25 others(899): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ICA1_chr7_8108184_8267167 | 8152587 | C | CCACCACT others(875): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 274 | 0.0037 | 882 | c.804 others(899): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(875): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 882 | c.-27 others(893): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(875): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 882 | c.-27 others(893): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322337 | A | ATATGGAA others(875): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0208 | 1 | 323 | 0.0031 | 882 | c.-27 others(893): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2632 | chr21 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(875): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0172 | a0001c0001t0172g0209 | 1 | 276 | 0.0036 | 882 | c.*65 others(893): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar |