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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IQSEC3_chr12_61767_183455 | 177334 | CCCTGTTG | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(74): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0004others(13): Show | a0001c0002t0002a0001c0002t0043a0001c0002t0044others(19): Show | a0001c0002t0002g0001a0001c0002t0002g0008a0001c0002t0002g0035others(73): Show | 77 | 282 | 0.2731 | -7 | c.*23 others(18): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 14/14 | 2302 | chr12 | TogoVar | |||||
IQUB_chr7_123447193_123539595 | 123478266 | ACATCCTT | A | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02258.hp2 others(13): Show |
a0003 | a0003c0003a0003c0005 | a0003c0003t0001a0003c0005t0001 | a0003c0003t0001g0229a0003c0003t0001g0338a0003c0003t0001g0339others(13): Show | 16 | 370 | 0.0432 | -7 | c.141 others(26): Show |
IQUB | ENSG00000164675.11 | transcript | ENST00000324698.11 | protein_coding | 8/12 | chr7 | TogoVar | ||||||
IRAG1_chr11_10568095_10698755 | 10616518 | CAAAAACA | C | intron_variant | MODIFIER | HG00140.hp2 HG02258.hp1 HG02486.hp2 others(6): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0041a0002c0003others(3): Show | a0001c0001t0003a0001c0041t0004a0002c0003t0001others(4): Show | a0001c0001t0003g0248a0001c0041t0004g0230a0002c0003t0001g0011others(6): Show | 9 | 278 | 0.0324 | -7 | c.144 others(26): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 10/20 | chr11 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25050533 | AAACAAAC | A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01361.hp2 HG02015.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0197a0001c0001t0001g0206others(10): Show | 13 | 344 | 0.0378 | -7 | c.-28 others(18): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 2172 | chr12 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25077354 | TATATATG | T | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG04184.hp2 |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0005 | a0003c0003t0002g0079a0003c0003t0005g0032a0003c0003t0005g0033 | 3 | 344 | 0.0087 | -7 | c.25- others(22): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IRAK2_chr3_10159919_10248745 | 10170195 | GTGTATCA | G | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 NA18747.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012a0001c0003t0001g0090a0001c0003t0001g0252 | 3 | 292 | 0.0103 | -7 | c.94+ others(22): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IRAK2_chr3_10159919_10248745 | 10241801 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0003a0001c0014others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(234): Show | 237 | 292 | 0.8116 | -7 | c.176 others(24): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IRAK4_chr12_43753951_43794541 | 43758666 | CACACACA | C | upstream_gene_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0030a0002c0002t0014a0002c0002t0019 | a0001c0001t0030g0146a0002c0002t0014g0046a0002c0002t0019g0059others(1): Show | 4 | 354 | 0.0113 | -7 | c.-35 others(16): Show |
IRAK4 | ENSG00000198001.16 | transcript | ENST00000613694.5 | protein_coding | 284 | chr12 | TogoVar | ||||||
IRAK4_chr12_43753951_43794541 | 43782180 | GTATGTAC | G | intron_variant | MODIFIER | HG01255.hp2 HG01256.hp2 HG01928.hp2 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0017a0002c0002t0027 | a0002c0002t0005g0005a0002c0002t0005g0010a0002c0002t0005g0016others(7): Show | 19 | 354 | 0.0537 | -7 | c.942 others(22): Show |
IRAK4 | ENSG00000198001.16 | transcript | ENST00000613694.5 | protein_coding | 8/11 | chr12 | TogoVar | ||||||
IRF2BPL_chr14_77019543_77033708 | 77024914 | ATTTTTTT | A | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00735.hp1 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0029a0001c0038others(6): Show | a0001c0001t0005a0001c0001t0013a0001c0001t0018others(11): Show | a0001c0001t0005g0000a0001c0001t0013g0000a0001c0001t0018g0000others(11): Show | 56 | 414 | 0.1353 | -7 | c.*48 others(16): Show |
IRF2BPL | ENSG00000119669.5 | transcript | ENST00000238647.5 | protein_coding | 1/1 | 481 | chr14 | TogoVar | |||||
IRF2BPL_chr14_77019543_77033708 | 77029636 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(130): Show |
a0001a0002a0003others(5): Show | a0001c0006a0001c0015a0001c0024others(15): Show | a0001c0006t0060a0001c0015t0085a0001c0024t0003others(43): Show | a0001c0006t0060g0000a0001c0015t0085g0000a0001c0024t0003g0000others(43): Show | 133 | 414 | 0.3213 | -7 | c.-18 others(18): Show |
IRF2BPL | ENSG00000119669.5 | transcript | ENST00000238647.5 | protein_coding | 929 | chr14 | TogoVar | ||||||
IRF5_chr7_128932927_128955038 | 128943707 | ATTTTTTT | A | intron_variant | MODIFIER | HG01168.hp2 HG01243.hp2 HG01256.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0034a0001c0001t0001g0043a0001c0001t0001g0137others(9): Show | 17 | 404 | 0.0421 | -7 | c.195 others(24): Show |
IRF5 | ENSG00000128604.21 | transcript | ENST00000357234.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IRS1_chr2_226726312_226804820 | 226741817 | ACACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00733.hp1 others(55): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0024others(8): Show | a0001c0001t0002g0125a0001c0001t0002g0172a0001c0001t0002g0185others(54): Show | 58 | 278 | 0.2086 | -7 | c.*22 others(24): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
IRS2_chr13_109747695_109791583 | 109772735 | CCGGACTG | C | intron_variant | MODIFIER | HG00099.hp1 HG01255.hp1 HG01257.hp2 others(3): Show |
a0001a0003 | a0001c0004a0003c0012 | a0001c0004t0002a0003c0012t0002 | a0001c0004t0002g0045a0001c0004t0002g0245a0001c0004t0002g0265others(2): Show | 6 | 398 | 0.0151 | -7 | c.401 others(26): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
IRS4_chrX_108714946_108741563 | 108715248 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01256.hp1 others(9): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(8): Show | 12 | 308 | 0.0390 | -7 | c.*72 others(18): Show |
IRS4 | ENSG00000133124.12 | transcript | ENST00000372129.4 | protein_coding | 4697 | chrX | TogoVar | ||||||
ISG20_chr15_88634016_88661483 | 88637332 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(159): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(105): Show | 162 | 436 | 0.3716 | -7 | c.-17 others(18): Show |
ISG20 | ENSG00000172183.16 | transcript | ENST00000306072.10 | protein_coding | 1683 | chr15 | TogoVar | ||||||
ISL2_chr15_76331773_76347475 | 76335112 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01496.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020a0001c0001t0002g0002a0001c0001t0002g0003others(1): Show | 10 | 416 | 0.0240 | -7 | c.-17 others(18): Show |
ISL2 | ENSG00000159556.10 | transcript | ENST00000290759.9 | protein_coding | 1660 | chr15 | TogoVar | ||||||
ISLR2_chr15_74125586_74141802 | 74126895 | TTTGTGTG | T | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01433.hp1 HG01993.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0002c0003t0001g0001 | 5 | 398 | 0.0126 | -7 | c.-38 others(18): Show |
ISLR2 | ENSG00000167178.17 | transcript | ENST00000453268.3 | protein_coding | 3690 | chr15 | TogoVar | ||||||
ISM2_chr14_77469394_77503816 | 77496799 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01167.hp2 others(20): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0019 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0069a0002c0002t0001g0066a0002c0002t0001g0067others(20): Show | 23 | 280 | 0.0821 | -7 | c.141 others(24): Show |
ISM2 | ENSG00000100593.18 | transcript | ENST00000342219.9 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
ISY1_chr3_129122415_129166063 | 129149973 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00673.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0187a0001c0001t0002g0018a0001c0001t0002g0020others(54): Show | 60 | 366 | 0.1639 | -7 | c.188 others(24): Show |
ISY1 | ENSG00000240682.10 | transcript | ENST00000393295.8 | protein_coding | 5/10 | chr3 | TogoVar | ||||||
ISY1_chr3_129122415_129166063 | 129164210 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00597.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(66): Show | 74 | 366 | 0.2022 | -7 | c.-32 others(18): Show |
ISY1 | ENSG00000240682.10 | transcript | ENST00000393295.8 | protein_coding | 3148 | chr3 | TogoVar | ||||||
ITGA10_chr1_145886208_145915050 | 145913029 | AGTGAGCC | A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00642.hp2 others(104): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(53): Show | 107 | 390 | 0.2744 | -7 | c.-30 others(18): Show |
ITGA10 | ENSG00000143127.13 | transcript | ENST00000369304.8 | protein_coding | 2980 | chr1 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68365698 | CTTTTCTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(44): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0028others(37): Show | a0001c0001t0003g0122a0001c0001t0003g0161a0001c0001t0006g0074others(44): Show | 47 | 242 | 0.1942 | -7 | c.266 others(22): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 3/29 | chr15 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68369808 | GCTGCCAT | G | intron_variant | MODIFIER | HG00597.hp2 HG01167.hp2 HG02056.hp1 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0055others(5): Show | a0001c0001t0003a0001c0002t0076a0001c0002t0115others(7): Show | a0001c0001t0003g0066a0001c0002t0076g0076a0001c0002t0115g0004others(7): Show | 10 | 242 | 0.0413 | -7 | c.165 others(22): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68396936 | AATATATT | A | intron_variant | MODIFIER | HG02965.hp1 HG02970.hp1 |
a0004a0008 | a0004c0077a0008c0082 | a0004c0077t0099a0008c0082t0042 | a0004c0077t0099g0223a0008c0082t0042g0123 | 2 | 242 | 0.0083 | -7 | c.164 others(24): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68397262 | TATAAAAA | T | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01099.hp1 others(3): Show |
a0003a0004a0006 | a0003c0014a0003c0057a0004c0013others(2): Show | a0003c0014t0108a0003c0057t0024a0004c0013t0008others(3): Show | a0003c0014t0108g0008a0003c0057t0024g0045a0004c0013t0008g0113others(3): Show | 6 | 242 | 0.0248 | -7 | c.164 others(24): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | ||||||
ITGA2_chr5_52984352_53099779 | 53094639 | CAGTTAGT | C | 3_prime_UTR_variant | MODIFIER | HG00673.hp1 NA18961.hp1 NA18995.hp2 |
a0002 | a0002c0009 | a0002c0009t0016 | a0002c0009t0016g0216a0002c0009t0016g0271a0002c0009t0016g0272 | 3 | 398 | 0.0075 | -7 | c.*40 others(18): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 30/30 | 4045 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
ITGA3_chr17_50051110_50095481 | 50093976 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02145.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0008 | a0001c0001t0016a0001c0003t0006a0004c0008t0001 | a0001c0001t0016g0280a0001c0003t0006g0020a0001c0003t0006g0373others(3): Show | 7 | 402 | 0.0174 | -7 | c.*48 others(18): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 3496 | chr17 | TogoVar | ||||||
ITGA5_chr12_54390261_54424266 | 54395710 | TCTGGGCC | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02698.hp1 others(11): Show |
a0001a0011 | a0001c0002a0001c0015a0011c0022 | a0001c0002t0003a0001c0015t0003a0011c0022t0003 | a0001c0002t0003g0009a0001c0002t0003g0037a0001c0002t0003g0056others(6): Show | 14 | 330 | 0.0424 | -7 | c.*57 others(16): Show |
ITGA5 | ENSG00000161638.11 | transcript | ENST00000293379.9 | protein_coding | 30/30 | 576 | chr12 | TogoVar | |||||
ITGA6_chr2_172422586_172511459 | 172441558 | TTAAAAAA | T | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(6): Show | a0001c0001t0001g0265a0001c0001t0001g0273a0001c0001t0002g0218others(29): Show | 33 | 352 | 0.0938 | -7 | c.182 others(26): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 1/25 | chr2 | TogoVar | ||||||
ITGA6_chr2_172422586_172511459 | 172441559 | TAAAAAAA | T | intron_variant | MODIFIER | HG01069.hp2 HG01928.hp2 HG01975.hp1 others(12): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0002c0004others(2): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0032others(4): Show | a0001c0002t0002g0145a0001c0002t0002g0149a0001c0002t0002g0186others(12): Show | 15 | 352 | 0.0426 | -7 | c.182 others(26): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGA7_chr12_55679568_55712904 | 55689881 | CTATTTAA | C | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02922.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023a0002c0002t0001g0060a0002c0002t0001g0095others(3): Show | 7 | 330 | 0.0212 | -7 | c.284 others(24): Show |
ITGA7 | ENSG00000135424.19 | transcript | ENST00000257879.11 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ITGA7_chr12_55679568_55712904 | 55706628 | AGGCCCCT | A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02723.hp2 others(4): Show |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0001a0007c0009t0001 | a0002c0002t0001g0022a0002c0002t0001g0057a0002c0002t0001g0061others(3): Show | 7 | 330 | 0.0212 | -7 | c.206 others(22): Show |
ITGA7 | ENSG00000135424.19 | transcript | ENST00000257879.11 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15546091 | ACTCAGGT | A | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02895.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0026a0001c0001t0029others(2): Show | a0001c0001t0003g0078a0001c0001t0003g0079a0001c0001t0026g0003others(3): Show | 6 | 220 | 0.0273 | -7 | c.288 others(26): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 27/29 | chr10 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15622597 | CAAAACAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(59): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0085a0001c0001t0001g0092a0001c0001t0001g0102others(59): Show | 62 | 220 | 0.2818 | -7 | c.140 others(26): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 13/29 | chr10 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512016 | TTCTTTTC | T | intron_variant | MODIFIER | HG01074.hp2 HG02257.hp1 HG02451.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0005a0001c0001t0007a0002c0002t0002others(2): Show | a0001c0001t0005g0076a0001c0001t0007g0045a0002c0002t0002g0058others(4): Show | 7 | 168 | 0.0417 | -7 | c.898 others(24): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37518771 | CTTTTTTT | C | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01192.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0007a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0001t0007g0148a0002c0002t0001g0121a0002c0002t0003g0120others(8): Show | 11 | 168 | 0.0655 | -7 | c.114 others(24): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37722143 | ACACTCTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(66): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0014a0001c0001t0001g0029a0001c0001t0001g0070others(66): Show | 69 | 168 | 0.4107 | -7 | c.206 others(28): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37733515 | CAAAAAAA | C | intron_variant | MODIFIER | HG02486.hp2 HG02698.hp2 HG02723.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0022others(3): Show | a0001c0001t0004a0001c0003t0008a0001c0003t0014others(7): Show | a0001c0001t0004g0047a0001c0003t0008g0156a0001c0003t0014g0157others(7): Show | 10 | 168 | 0.0595 | -7 | c.215 others(24): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGAE_chr17_3709628_3806188 | 3756223 | CCTTTTTT | C | intron_variant | MODIFIER | HG02559.hp2 HG03209.hp1 NA18906.hp2 |
a0018a0028 | a0018c0022a0028c0041 | a0018c0022t0001a0028c0041t0001 | a0018c0022t0001g0039a0018c0022t0001g0043a0028c0041t0001g0020 | 3 | 302 | 0.0099 | -7 | c.117 others(24): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 10/30 | chr17 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31261198 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02145.hp1 others(17): Show |
a0001a0010 | a0001c0005a0010c0012 | a0001c0005t0004a0010c0012t0004 | a0001c0005t0004g0001a0001c0005t0004g0149a0001c0005t0004g0150others(16): Show | 20 | 244 | 0.0820 | -7 | c.29- others(20): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31270160 | TTCCTTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(85): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(5): Show | a0001c0001t0001g0020a0001c0001t0001g0028a0001c0001t0001g0064others(85): Show | 88 | 244 | 0.3607 | -7 | c.428 others(22): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 5/29 | chr16 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668205 | TATATATA | T | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp1 HG01169.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0003a0004c0009t0003 | a0001c0001t0001g0261a0001c0001t0003g0006a0001c0001t0003g0034others(3): Show | 7 | 308 | 0.0227 | -7 | c.243 others(24): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | chr2 | TogoVar | ||||||
ITGB1BP2_chrX_71296750_71310371 | 71309278 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 291 | 0.0034 | -7 | c.*40 others(18): Show |
ITGB1BP2 | ENSG00000147166.11 | transcript | ENST00000373829.8 | protein_coding | 3908 | chrX | TogoVar | ||||||
ITGB1_chr10_32895318_32963230 | 32937554 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00558.hp1 others(119): Show |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0025others(100): Show | 122 | 424 | 0.2877 | -7 | c.1-2 others(20): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 1/15 | chr10 | TogoVar | ||||||
ITGB2_chr21_44880953_44925899 | 44895870 | TGAAATAA | T | intron_variant | MODIFIER | HG01081.hp1 HG02055.hp1 HG02055.hp2 others(22): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0234a0001c0001t0001g0307a0001c0001t0001g0310others(22): Show | 25 | 444 | 0.0563 | -7 | c.994 others(22): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 8/15 | chr21 | TogoVar | ||||||
ITGB3BP_chr1_63435770_63528225 | 63473983 | CCCCACCT | C | intron_variant | MODIFIER | HG01167.hp1 HG02145.hp2 HG02615.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0218a0001c0001t0001g0219others(10): Show | 14 | 374 | 0.0374 | -7 | c.254 others(24): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
ITGB3BP_chr1_63435770_63528225 | 63474756 | GGAAGGCC | G | intron_variant | MODIFIER | HG00280.hp2 HG02109.hp2 NA18973.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0116a0001c0001t0001g0118others(7): Show | 11 | 374 | 0.0294 | -7 | c.254 others(24): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
ITGB3_chr17_47248827_47318743 | 47255969 | AAATAAAT | A | intron_variant | MODIFIER | HG02145.hp2 HG03130.hp1 NA19240.hp2 |
a0001a0009 | a0001c0005a0009c0010 | a0001c0005t0002a0001c0005t0029a0009c0010t0008 | a0001c0005t0002g0284a0001c0005t0029g0283a0009c0010t0008g0282 | 3 | 370 | 0.0081 | -7 | c.79+ others(22): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ITGB5_chr3_124756948_124892365 | 124765702 | ATTCATCT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0002t0003others(7): Show | a0001c0001t0003g0170a0001c0001t0009g0013a0001c0002t0003g0052others(65): Show | 68 | 352 | 0.1932 | -7 | c.213 others(24): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 13/14 | chr3 | TogoVar |