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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITGA4_chr2_181452386_181543940 | 181478218 | G | GAAGATGT others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG02109.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0002t0014a0001c0002t0035others(4): Show | a0001c0001t0002g0347a0001c0002t0014g0278a0001c0002t0014g0279others(8): Show | 11 | 368 | 0.0299 | 13 | c.557 others(28): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGA4_chr2_181452386_181543940 | 181526821 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01123.hp2 others(28): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0001g0044others(27): Show | 31 | 368 | 0.0842 | 13 | c.234 others(30): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGA4_chr2_181452386_181543940 | 181536924 | G | GGAAAGAT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00609.hp1 NA18987.hp1 NA19003.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0029 | a0001c0002t0013g0193a0001c0002t0013g0296a0001c0002t0013g0299others(2): Show | 5 | 368 | 0.0136 | 13 | c.*13 others(24): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 28/28 | 1411 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
ITGA6_chr2_172422586_172511459 | 172469433 | T | TATGATTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(223): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(32): Show | a0001c0001t0001g0014a0001c0001t0001g0028a0001c0001t0001g0029others(216): Show | 226 | 352 | 0.6421 | 13 | c.643 others(26): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGA6_chr2_172422586_172511459 | 172486176 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG02027.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0006 | a0001c0003t0005g0161a0001c0003t0005g0163a0001c0003t0005g0167others(4): Show | 7 | 352 | 0.0199 | 13 | c.197 others(30): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 14/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGA7_chr12_55679568_55712904 | 55710458 | A | ATTAGTTA others(6): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0013 | a0013c0023 | a0013c0023t0005 | a0013c0023t0005g0177 | 1 | 330 | 0.0030 | 13 | c.-27 others(24): Show |
ITGA7 | ENSG00000135424.19 | transcript | ENST00000257879.11 | protein_coding | 2555 | chr12 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15532418 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01884.hp1 HG02145.hp1 others(6): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0002a0003c0003t0010a0004c0004t0002others(4): Show | a0001c0001t0002g0075a0001c0001t0002g0181a0003c0003t0010g0039others(6): Show | 9 | 220 | 0.0409 | 13 | c.288 others(32): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 27/29 | chr10 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15532429 | A | AGAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0011 | 1 | 220 | 0.0046 | 13 | c.288 others(32): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 27/29 | chr10 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15549201 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0014a0004c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(5): Show | a0001c0001t0002g0060a0001c0001t0002g0109a0001c0001t0002g0176others(9): Show | 12 | 220 | 0.0546 | 13 | c.276 others(30): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 26/29 | chr10 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15554472 | G | GATCCACC others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(58): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0007a0001c0008others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0060a0001c0001t0002g0062a0001c0001t0002g0066others(58): Show | 61 | 220 | 0.2773 | 13 | c.276 others(32): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 26/29 | chr10 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15554472 | G | GATCCACC others(6): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0186 | 1 | 220 | 0.0046 | 13 | c.276 others(32): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 26/29 | chr10 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15720865 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0096 | 1 | 220 | 0.0046 | 13 | c.-10 others(24): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 944 | chr10 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512119 | T | TTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02109.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0061a0002c0002t0002g0063 | 2 | 168 | 0.0119 | 13 | c.898 others(30): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512120 | C | CCTTCCTT others(6): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0120 | 1 | 168 | 0.0060 | 13 | c.898 others(30): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37758329 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0022 | a0001c0022t0009 | a0001c0022t0009g0114 | 1 | 168 | 0.0060 | 13 | c.254 others(32): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGAE_chr17_3709628_3806188 | 3719234 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02486.hp1 others(5): Show |
a0004a0008a0013others(1): Show | a0004c0004a0008c0009a0008c0023others(2): Show | a0004c0004t0001a0008c0009t0001a0008c0023t0001others(2): Show | a0004c0004t0001g0014a0004c0004t0001g0030a0004c0004t0001g0042others(5): Show | 8 | 302 | 0.0265 | 13 | c.333 others(32): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 29/30 | chr17 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3796190 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0014 | a0014c0027 | a0014c0027t0001 | a0014c0027t0001g0050 | 1 | 302 | 0.0033 | 13 | c.34+ others(28): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31262330 | C | CCCTTCCT others(6): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0155 | 1 | 244 | 0.0041 | 13 | c.134 others(28): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31272457 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 244 | 0.0041 | 13 | c.704 others(28): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31272464 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02129.hp1 |
a0001a0005 | a0001c0002a0005c0009 | a0001c0002t0002a0005c0009t0002 | a0001c0002t0002g0087a0005c0009t0002g0050 | 2 | 244 | 0.0082 | 13 | c.704 others(28): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31333583 | A | AAAATAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 244 | 0.0041 | 13 | c.*18 others(24): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 707 | chr16 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 308 | 0.0033 | 13 | c.243 others(30): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0002g0043 | 3 | 308 | 0.0097 | 13 | c.243 others(30): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02602.hp1 NA18949.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0018a0001c0001t0002g0164 | 3 | 308 | 0.0097 | 13 | c.243 others(30): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01175.hp2 HG02523.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0026a0001c0001t0002g0035a0001c0001t0002g0115others(2): Show | 5 | 308 | 0.0162 | 13 | c.243 others(30): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATTTTT others(6): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03471.hp2 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0007 | a0001c0001t0002g0036a0002c0002t0007g0138a0002c0002t0007g0140 | 3 | 308 | 0.0097 | 13 | c.243 others(30): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGB1_chr10_32895318_32963230 | 32903351 | C | CAAACAAA others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0031 | 1 | 424 | 0.0024 | 13 | c.233 others(32): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 15/15 | chr10 | TogoVar | ||||||
ITGB1_chr10_32895318_32963230 | 32948971 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18984.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112a0001c0001t0003g0114a0001c0001t0003g0115 | 3 | 424 | 0.0071 | 13 | c.-1+ others(28): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 1/15 | chr10 | TogoVar | ||||||
ITGB1_chr10_32895318_32963230 | 32961751 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG02647.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045a0001c0001t0004g0047a0001c0001t0004g0050others(2): Show | 5 | 424 | 0.0118 | 13 | c.-36 others(24): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 3522 | chr10 | TogoVar | ||||||
ITGB2_chr21_44880953_44925899 | 44883772 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0349 | 1 | 444 | 0.0023 | 13 | c.*25 others(24): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 2180 | chr21 | TogoVar | ||||||
ITGB3BP_chr1_63435770_63528225 | 63493093 | C | CGCGCGCG others(6): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 374 | 0.0027 | 13 | c.49- others(28): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
ITGB3_chr17_47248827_47318743 | 47251977 | A | ACACACAC others(6): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0043 | 1 | 370 | 0.0027 | 13 | c.-18 others(24): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 1849 | chr17 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124771748 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01496.hp1 others(20): Show |
a0001a0002a0008 | a0001c0001a0001c0007a0001c0023others(2): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0007others(3): Show | a0001c0001t0001g0090a0001c0007t0001g0101a0001c0007t0001g0210others(20): Show | 23 | 352 | 0.0653 | 13 | c.191 others(32): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 11/14 | chr3 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124798055 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(49): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(13): Show | a0001c0001t0001g0019a0001c0001t0001g0030a0001c0001t0002g0014others(49): Show | 52 | 352 | 0.1477 | 13 | c.126 others(32): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 9/14 | chr3 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124889470 | G | GGGTACAT others(6): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0065 | 1 | 352 | 0.0028 | 13 | c.-24 others(24): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 2106 | chr3 | TogoVar | ||||||
ITGB8_chr7_20325900_20420754 | 20360348 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01255.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0007a0001c0001t0057a0001c0003t0031others(3): Show | a0001c0001t0007g0073a0001c0001t0057g0053a0001c0003t0031g0233others(3): Show | 7 | 342 | 0.0205 | 13 | c.128 others(30): Show |
ITGB8 | ENSG00000105855.10 | transcript | ENST00000222573.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ITGB8_chr7_20325900_20420754 | 20384300 | G | GTCTGAAC others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(120): Show |
a0001a0003a0004others(2): Show | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(47): Show | a0001c0002t0001g0016a0001c0002t0001g0018a0001c0002t0001g0036others(116): Show | 123 | 342 | 0.3597 | 13 | c.960 others(30): Show |
ITGB8 | ENSG00000105855.10 | transcript | ENST00000222573.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101558083 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 306 | 0.0033 | 13 | c.317 others(30): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101671435 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0064 | 1 | 306 | 0.0033 | 13 | c.101 others(34): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101689211 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02698.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0002t0001a0002c0007t0001 | a0001c0001t0001g0151a0001c0002t0001g0222a0002c0007t0001g0052 | 3 | 306 | 0.0098 | 13 | c.101 others(32): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITIH1_chr3_52772599_52797062 | 52782569 | C | CAAGTGCC others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(188): Show |
a0001a0002a0003others(4): Show | a0001c0006a0001c0027a0002c0002others(13): Show | a0001c0006t0001a0001c0027t0001a0002c0002t0001others(14): Show | a0001c0006t0001g0104a0001c0027t0001g0129a0002c0002t0001g0003others(100): Show | 191 | 406 | 0.4704 | 13 | c.930 others(28): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7724570 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG01175.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0050others(14): Show | 17 | 380 | 0.0447 | 13 | c.984 others(30): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7748521 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01517.hp2 HG04228.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0002t0001a0005c0007t0002 | a0001c0001t0001g0065a0001c0001t0001g0116a0001c0001t0001g0141others(2): Show | 5 | 380 | 0.0132 | 13 | c.269 others(30): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH5_chr10_7554270_7671966 | 7597044 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0050 | 1 | 342 | 0.0029 | 13 | c.940 others(32): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7605769 | T | TTCCACGT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(290): Show |
a0000a0001a0002others(28): Show | a0000c0011a0000c0013a0000c0014others(74): Show | a0000c0011t0007a0000c0011t0031a0000c0013t0004others(119): Show | a0000c0011t0007g0084a0000c0011t0007g0137a0000c0011t0031g0260others(289): Show | 293 | 342 | 0.8567 | 13 | c.939 others(32): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7644753 | A | ATATATCA others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03098.hp1 HG03130.hp1 others(2): Show |
a0000a0002a0004others(1): Show | a0000c0038a0000c0042a0002c0003others(2): Show | a0000c0038t0004a0000c0042t0033a0002c0003t0001others(2): Show | a0000c0038t0004g0276a0000c0042t0033g0275a0002c0003t0001g0141others(2): Show | 5 | 342 | 0.0146 | 13 | c.136 others(30): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7644953 | A | ACATATAT others(6): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 342 | 0.0029 | 13 | c.136 others(30): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157233963 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02027.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0297a0001c0001t0003g0160a0001c0001t0005g0333 | 3 | 348 | 0.0086 | 13 | c.768 others(30): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITK_chr5_157175840_157260185 | 157233964 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG02055.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0001 | a0001c0001t0001g0029a0001c0001t0001g0196a0001c0001t0001g0328others(1): Show | 4 | 348 | 0.0115 | 13 | c.768 others(30): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | chr5 | TogoVar | ||||||
ITLN2_chr1_160940025_160959809 | 160942871 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00639.hp2 others(54): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0012t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0033others(14): Show | 57 | 480 | 0.1188 | 13 | c.*22 others(24): Show |
ITLN2 | ENSG00000158764.7 | transcript | ENST00000368029.4 | protein_coding | 2153 | chr1 | TogoVar |