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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IRF5_chr7_128932927_128955038 | 128943023 | A | ATTTTTTT | intron_variant | MODIFIER | HG01515.hp1 HG02109.hp2 HG03453.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0012t0001others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0154a0001c0001t0006g0149others(4): Show | 12 | 404 | 0.0297 | 7 | c.195 others(22): Show |
IRF5 | ENSG00000128604.21 | transcript | ENST00000357234.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IRS1_chr2_226726312_226804820 | 226751274 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01109.hp2 others(33): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0054a0001c0002t0002others(8): Show | a0001c0001t0002g0185a0001c0001t0054g0155a0001c0002t0002g0008others(32): Show | 36 | 278 | 0.1295 | 7 | c.*22 others(26): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
IRS2_chr13_109747695_109791583 | 109775753 | A | ACACACAC | intron_variant | MODIFIER | HG01099.hp1 HG01361.hp1 NA18941.hp1 |
a0001a0003 | a0001c0001a0001c0004a0003c0012 | a0001c0001t0043a0001c0004t0002a0003c0012t0031 | a0001c0001t0043g0070a0001c0004t0002g0245a0003c0012t0031g0241 | 3 | 398 | 0.0075 | 7 | c.401 others(26): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
IRX6_chr16_55319203_55335756 | 55326137 | A | AAATGCGT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(348): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0013others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(23): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0013others(224): Show | 351 | 448 | 0.7835 | 7 | c.46- others(20): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
ISL1_chr5_51378448_51399730 | 51390642 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01168.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0036others(16): Show | 32 | 342 | 0.0936 | 7 | c.766 others(22): Show |
ISL1 | ENSG00000016082.15 | transcript | ENST00000230658.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ISL1_chr5_51378448_51399730 | 51396189 | G | GTTTGTTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00733.hp1 others(125): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0004g0085a0001c0001t0004g0086a0001c0001t0004g0087others(54): Show | 128 | 342 | 0.3743 | 7 | c.*25 others(18): Show |
ISL1 | ENSG00000016082.15 | transcript | ENST00000230658.12 | protein_coding | 1460 | chr5 | TogoVar | ||||||
ISOC1_chr5_129089749_129119028 | 129101192 | A | AAATATAT | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG03669.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0053a0001c0001t0001g0091a0001c0001t0003g0025others(1): Show | 7 | 418 | 0.0168 | 7 | c.310 others(24): Show |
ISOC1 | ENSG00000066583.12 | transcript | ENST00000173527.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ISOC2_chr19_55447985_55466642 | 55456056 | T | TGAGGGAA | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02486.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0044a0001c0001t0001g0104a0001c0001t0001g0161others(5): Show | 10 | 380 | 0.0263 | 7 | c.139 others(22): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
ISOC2_chr19_55447985_55466642 | 55464934 | T | TCGGGAGG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(251): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(129): Show | 254 | 380 | 0.6684 | 7 | c.-34 others(18): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 3293 | chr19 | TogoVar | ||||||
IST1_chr16_71890531_71936199 | 71892178 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(50): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(43): Show | 53 | 352 | 0.1506 | 7 | c.-34 others(18): Show |
IST1 | ENSG00000182149.21 | transcript | ENST00000378799.11 | protein_coding | 3352 | chr16 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18442159 | A | ACACACAC | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01517.hp2 NA18993.hp2 others(2): Show |
a0001a0005 | a0001c0002a0001c0003a0005c0011 | a0001c0002t0001a0001c0003t0001a0005c0011t0001 | a0001c0002t0001g0003a0001c0003t0001g0002a0001c0003t0001g0025others(1): Show | 5 | 308 | 0.0162 | 7 | c.-40 others(18): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4027 | chr19 | TogoVar | ||||||
ITCH_chr20_34358273_34516773 | 34441591 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(193): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0126others(193): Show | 196 | 294 | 0.6667 | 7 | c.870 others(22): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ITFG1_chr16_47149391_47466063 | 47409404 | A | ATATTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01169.hp1 HG01255.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0107a0001c0001t0001g0108others(1): Show | 4 | 110 | 0.0364 | 7 | c.655 others(26): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | ||||||
ITFG1_chr16_47149391_47466063 | 47427656 | A | AGTAACAT | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01109.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0066a0001c0001t0001g0100a0001c0001t0001g0101others(39): Show | 42 | 110 | 0.3818 | 7 | c.655 others(24): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52808676 | C | CTTTCTTT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00639.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(39): Show | a0001c0001t0001g0072a0001c0001t0004g0076a0001c0001t0006g0088others(48): Show | 51 | 322 | 0.1584 | 7 | c.61+ others(24): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52866000 | T | TTTTTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp2 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(56): Show | a0001c0001t0001g0048a0001c0001t0001g0067a0001c0001t0001g0221others(83): Show | 86 | 322 | 0.2671 | 7 | c.624 others(22): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52889897 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(142): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0012others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(79): Show | a0001c0001t0001g0044a0001c0001t0001g0048a0001c0001t0001g0067others(140): Show | 145 | 322 | 0.4503 | 7 | c.924 others(24): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA4_chr2_181452386_181543940 | 181526821 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00621.hp1 others(16): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0003a0005c0017others(1): Show | a0001c0001t0007a0001c0001t0036a0002c0003t0004others(5): Show | a0001c0001t0007g0257a0001c0001t0036g0306a0002c0003t0004g0004others(16): Show | 19 | 368 | 0.0516 | 7 | c.234 others(24): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGA6_chr2_172422586_172511459 | 172457295 | C | CAAAAAAA | intron_variant | MODIFIER | HG01074.hp2 HG02451.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(2): Show | a0001c0001t0001g0014a0001c0001t0013g0035a0001c0002t0002g0036others(3): Show | 6 | 352 | 0.0171 | 7 | c.183 others(24): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGA8_chr10_15508954_15724922 | 15720862 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG01099.hp2 others(22): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0115a0001c0001t0001g0117a0001c0001t0001g0127others(22): Show | 25 | 220 | 0.1136 | 7 | c.-10 others(18): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 941 | chr10 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15720868 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG03492.hp2 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0018a0003c0003t0007a0004c0004t0009others(2): Show | a0001c0001t0018g0014a0003c0003t0007g0011a0003c0003t0007g0030others(3): Show | 6 | 220 | 0.0273 | 7 | c.-10 others(18): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 947 | chr10 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37606932 | T | TGTGTGAG | intron_variant | MODIFIER | HG00639.hp2 HG02572.hp1 HG02647.hp2 others(3): Show |
a0002 | a0002c0002a0002c0004a0002c0011 | a0002c0002t0005a0002c0002t0010a0002c0002t0026others(2): Show | a0002c0002t0005g0050a0002c0002t0005g0158a0002c0002t0010g0087others(3): Show | 6 | 168 | 0.0357 | 7 | c.169 others(28): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37758329 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(24): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0072a0001c0001t0001g0125others(24): Show | 27 | 168 | 0.1607 | 7 | c.254 others(26): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGAE_chr17_3709628_3806188 | 3711370 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02055.hp2 others(15): Show |
a0004a0008a0013others(3): Show | a0004c0004a0004c0014a0004c0052others(5): Show | a0004c0004t0001a0004c0014t0001a0004c0052t0001others(5): Show | a0004c0004t0001g0014a0004c0004t0001g0015a0004c0004t0001g0022others(15): Show | 18 | 302 | 0.0596 | 7 | c.*34 others(18): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 3257 | chr17 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3755997 | A | ATGCTTGG | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG04199.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0256a0002c0002t0001g0257a0003c0003t0001g0262 | 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 | 31272464 | T | TATATATA | intron_variant | MODIFIER | HG02040.hp2 NA18963.hp1 NA18966.hp1 |
a0001a0005 | a0001c0002a0005c0009 | a0001c0002t0002a0005c0009t0002 | a0001c0002t0002g0044a0001c0002t0002g0104a0005c0009t0002g0093 | 3 | 244 | 0.0123 | 7 | c.704 others(22): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31302396 | T | TTTCTTTC | intron_variant | MODIFIER | HG01256.hp2 HG02615.hp2 HG02896.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0019a0003c0004t0005g0047a0003c0004t0005g0097others(3): Show | 6 | 244 | 0.0246 | 7 | c.170 others(26): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31334444 | T | TCTCTCTC | downstream_gene_variant | MODIFIER | HG02896.hp1 HG03195.hp2 NA20300.hp2 |
a0001a0006a0007 | a0001c0007a0006c0010a0007c0011 | a0001c0007t0009a0006c0010t0004a0007c0011t0004 | a0001c0007t0009g0142a0006c0010t0004g0018a0007c0011t0004g0017 | 3 | 244 | 0.0123 | 7 | c.*27 others(18): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1568 | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334444 | T | TCTCTTTC | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0143a0001c0007t0004g0144a0001c0007t0004g0145others(2): Show | 5 | 244 | 0.0205 | 7 | c.*27 others(18): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1568 | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334736 | C | CCTTCTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG02257.hp2 HG02615.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0002t0002a0003c0004t0005 | a0001c0001t0002g0137a0001c0001t0002g0139a0001c0002t0002g0082others(5): Show | 8 | 244 | 0.0328 | 7 | c.*30 others(18): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1860 | chr16 | TogoVar | ||||||
ITGB1BP2_chrX_71296750_71310371 | 71299272 | T | TTGGGAAA | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01975.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 291 | 0.0103 | 7 | c.-25 others(18): Show |
ITGB1BP2 | ENSG00000147166.11 | transcript | ENST00000373829.8 | protein_coding | 2477 | chrX | TogoVar | ||||||
ITGB1_chr10_32895318_32963230 | 32961751 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG01167.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0178a0001c0001t0003g0059a0001c0001t0003g0066others(23): Show | 28 | 424 | 0.0660 | 7 | c.-36 others(18): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 3522 | chr10 | TogoVar | ||||||
ITGB2_chr21_44880953_44925899 | 44883772 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02630.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0012others(1): Show | a0001c0001t0004a0001c0006t0004a0001c0012t0004others(1): Show | a0001c0001t0004g0280a0001c0001t0004g0299a0001c0001t0004g0345others(5): Show | 8 | 444 | 0.0180 | 7 | c.*25 others(18): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 2180 | chr21 | TogoVar | ||||||
ITGB2_chr21_44880953_44925899 | 44895879 | A | ATGAAATG | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01069.hp2 others(16): Show |
a0001a0009 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(1): Show | a0001c0001t0002g0218a0001c0003t0002g0006a0001c0003t0002g0007others(13): Show | 19 | 444 | 0.0428 | 7 | c.994 others(22): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 8/15 | chr21 | TogoVar | ||||||
ITGB3BP_chr1_63435770_63528225 | 63472443 | T | TCCCTCTC | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01167.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0052a0001c0001t0001g0218others(22): Show | 26 | 374 | 0.0695 | 7 | c.254 others(24): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124771748 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 HG03942.hp1 others(12): Show |
a0001a0002a0004 | a0001c0002a0001c0013a0002c0003others(1): Show | a0001c0002t0003a0001c0002t0005a0001c0013t0017others(3): Show | a0001c0002t0003g0069a0001c0002t0003g0262a0001c0002t0003g0280others(12): Show | 15 | 352 | 0.0426 | 7 | c.191 others(26): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 11/14 | chr3 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101628057 | C | CACCAGCA | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00621.hp1 others(49): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0114a0001c0001t0001g0132a0001c0001t0001g0141others(48): Show | 52 | 306 | 0.1699 | 7 | c.101 others(28): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101671426 | G | GTTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01175.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0007t0001others(1): Show | a0001c0001t0001g0127a0001c0001t0001g0158a0001c0001t0001g0187others(5): Show | 8 | 306 | 0.0261 | 7 | c.101 others(28): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101689211 | T | TAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02280.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0078a0001c0001t0001g0208a0001c0005t0001g0039others(4): Show | 7 | 306 | 0.0229 | 7 | c.101 others(26): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7737666 | T | TCTATAGA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(69): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0022others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(68): Show | 72 | 380 | 0.1895 | 7 | c.195 others(24): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737687 | T | TCTATAGA | intron_variant | MODIFIER | HG02074.hp2 NA18953.hp1 NA18989.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0059a0001c0001t0001g0085others(3): Show | 6 | 380 | 0.0158 | 7 | c.195 others(24): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7748521 | C | CTTTTTTT | intron_variant | MODIFIER | HG01981.hp1 HG03491.hp1 HG03669.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0043a0001c0001t0001g0050a0001c0001t0001g0114others(4): Show | 7 | 380 | 0.0184 | 7 | c.269 others(24): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITK_chr5_157175840_157260185 | 157233964 | T | TATATATA | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01516.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0018a0001c0001t0001g0020others(11): Show | 15 | 348 | 0.0431 | 7 | c.768 others(24): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | chr5 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4610999 | C | CTCCTTCT | intron_variant | MODIFIER | HG03041.hp1 HG06807.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0026a0001c0040 | a0001c0001t0020a0001c0026t0018a0001c0040t0001 | a0001c0001t0020g0123a0001c0026t0018g0117a0001c0040t0001g0049 | 3 | 176 | 0.0171 | 7 | c.164 others(26): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | chr3 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26556562 | T | TGTGTGTG | intron_variant | MODIFIER | HG01433.hp2 HG02040.hp2 |
a0001 | a0001c0013a0001c0040 | a0001c0013t0022a0001c0040t0005 | a0001c0013t0022g0129a0001c0040t0005g0019 | 2 | 142 | 0.0141 | 7 | c.482 others(24): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 35/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26556564 | T | TGTGTGTG | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 NA20805.hp2 |
a0001 | a0001c0012a0001c0013 | a0001c0012t0006a0001c0012t0039a0001c0013t0022 | a0001c0012t0006g0080a0001c0012t0039g0079a0001c0013t0022g0120 | 3 | 142 | 0.0211 | 7 | c.482 others(24): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 35/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26556566 | T | TGTGTGTG | intron_variant | MODIFIER | HG01071.hp1 HG01261.hp2 NA20752.hp2 |
a0001 | a0001c0002a0001c0027 | a0001c0002t0001a0001c0027t0055a0001c0027t0056 | a0001c0002t0001g0071a0001c0027t0055g0137a0001c0027t0056g0138 | 3 | 142 | 0.0211 | 7 | c.482 others(24): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 35/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26567960 | A | ATATATAT | intron_variant | MODIFIER | HG03195.hp2 HG03239.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0040a0001c0006t0001 | a0001c0002t0040g0047a0001c0006t0001g0060 | 2 | 142 | 0.0141 | 7 | c.463 others(26): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26775901 | T | TGAGTCAA | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02451.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0049a0003c0032others(1): Show | a0001c0001t0007a0001c0049t0028a0003c0032t0009others(1): Show | a0001c0001t0007g0046a0001c0049t0028g0103a0003c0032t0009g0049others(1): Show | 4 | 142 | 0.0282 | 7 | c.163 others(26): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26784357 | C | CTCCACGG | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01256.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0012a0001c0018others(3): Show | a0001c0001t0001a0001c0012t0005a0001c0018t0047others(4): Show | a0001c0001t0001g0036a0001c0012t0005g0023a0001c0018t0047g0112others(4): Show | 7 | 142 | 0.0493 | 7 | c.163 others(24): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar |