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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITCH_chr20_34358273_34516773 | 34364724 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0291 | 1 | 294 | 0.0034 | 15 | c.-99 others(32): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ITCH_chr20_34358273_34516773 | 34372384 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01074.hp1 HG01167.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0126others(35): Show | 38 | 294 | 0.1293 | 15 | c.-22 others(32): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ITFG1_chr16_47149391_47466063 | 47199269 | C | CCCAAACC others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0003g0068others(2): Show | 5 | 110 | 0.0455 | 15 | c.145 others(36): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 14/17 | chr16 | TogoVar | ||||||
ITFG1_chr16_47149391_47466063 | 47296068 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0071 | 1 | 110 | 0.0091 | 15 | c.107 others(36): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 10/17 | chr16 | TogoVar | ||||||
ITFG1_chr16_47149391_47466063 | 47307093 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097a0001c0001t0003g0098 | 2 | 110 | 0.0182 | 15 | c.107 others(34): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 10/17 | chr16 | TogoVar | ||||||
ITFG1_chr16_47149391_47466063 | 47376980 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 110 | 0.0091 | 15 | c.656 others(32): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | ||||||
ITFG1_chr16_47149391_47466063 | 47409404 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01496.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0030 | 3 | 110 | 0.0273 | 15 | c.655 others(34): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | ||||||
ITFG1_chr16_47149391_47466063 | 47409404 | A | ATATTTTT others(8): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0074 | 1 | 110 | 0.0091 | 15 | c.655 others(34): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | ||||||
ITFG1_chr16_47149391_47466063 | 47409405 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 110 | 0.0091 | 15 | c.655 others(34): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52834560 | G | GAGAAAGA others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01074.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0010a0001c0001t0016a0001c0001t0024others(15): Show | a0001c0001t0010g0102a0001c0001t0016g0017a0001c0001t0024g0002others(18): Show | 22 | 322 | 0.0683 | 15 | c.62- others(32): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52834587 | G | GAGAAGAA others(8): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0251 | 1 | 322 | 0.0031 | 15 | c.62- others(32): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52872575 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0089 | 1 | 322 | 0.0031 | 15 | c.624 others(32): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52911545 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0021 | 1 | 322 | 0.0031 | 15 | c.185 others(34): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA2B_chr17_44367181_44394649 | 44368119 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 354 | 0.0028 | 15 | c.*42 others(26): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4061 | chr17 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44368146 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 354 | 0.0028 | 15 | c.*42 others(26): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4034 | chr17 | TogoVar | ||||||
ITGA2_chr5_52984352_53099779 | 53044274 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02965.hp2 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0008a0002c0003 | a0001c0008t0012a0002c0003t0007a0002c0003t0040 | a0001c0008t0012g0163a0001c0008t0012g0164a0002c0003t0007g0079others(1): Show | 4 | 398 | 0.0101 | 15 | c.296 others(30): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA4_chr2_181452386_181543940 | 181526821 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00673.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0042others(24): Show | 29 | 368 | 0.0788 | 15 | c.234 others(32): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGA5_chr12_54390261_54424266 | 54401483 | G | GGAGGAGG others(8): Show |
splice_region_variant others(1): Show |
LOW | HG02559.hp2 | a0001 | a0001c0019 | a0001c0019t0004 | a0001c0019t0004g0054 | 1 | 330 | 0.0030 | 15 | c.238 others(29): Show |
ITGA5 | ENSG00000161638.11 | transcript | ENST00000293379.9 | protein_coding | 23/29 | chr12 | TogoVar | ||||||
ITGA6_chr2_172422586_172511459 | 172486176 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0222 | 1 | 352 | 0.0028 | 15 | c.197 others(32): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 14/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGA8_chr10_15508954_15724922 | 15549201 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02738.hp1 HG02738.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0041others(1): Show | a0001c0001t0003g0121a0001c0001t0004g0112a0001c0001t0004g0154others(5): Show | 8 | 220 | 0.0364 | 15 | c.276 others(32): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 26/29 | chr10 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15591405 | A | ATATATTA others(8): Show |
intron_variant | MODIFIER | HG03942.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0147a0001c0001t0004g0173 | 2 | 220 | 0.0091 | 15 | c.229 others(32): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 22/29 | chr10 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37758329 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03209.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0004a0002c0002t0005a0002c0010t0009 | a0001c0001t0004g0047a0002c0002t0005g0050a0002c0010t0009g0021 | 3 | 168 | 0.0179 | 15 | c.254 others(34): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37818191 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18964.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034a0001c0001t0004g0047a0001c0001t0004g0090others(1): Show | 4 | 168 | 0.0238 | 15 | c.301 others(32): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37818191 | T | TTAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0011 | a0002c0011t0015 | a0002c0011t0015g0168 | 1 | 168 | 0.0060 | 15 | c.301 others(32): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 27/27 | chr3 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3711370 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 HG04184.hp1 |
a0002a0008 | a0002c0002a0008c0051 | a0002c0002t0001a0008c0051t0001 | a0002c0002t0001g0154a0008c0051t0001g0300 | 2 | 302 | 0.0066 | 15 | c.*34 others(26): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 3257 | chr17 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3719234 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0051 | 1 | 302 | 0.0033 | 15 | c.333 others(34): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 29/30 | chr17 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30493245 | C | CATTTTAT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(68): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0031others(68): Show | 71 | 318 | 0.2233 | 15 | c.121 others(32): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31258303 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147 | 1 | 244 | 0.0041 | 15 | c.-17 others(26): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1671 | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31270137 | G | GCTTTCCT others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01175.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0167a0001c0001t0001g0171a0001c0001t0001g0189others(18): Show | 21 | 244 | 0.0861 | 15 | c.428 others(30): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31302396 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0077 | 1 | 244 | 0.0041 | 15 | c.170 others(34): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02572.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0104a0001c0001t0001g0198 | 3 | 308 | 0.0097 | 15 | c.243 others(32): 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(8): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 308 | 0.0033 | 15 | c.243 others(32): 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(8): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 308 | 0.0033 | 15 | c.243 others(32): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGAX_chr16_31350176_31387999 | 31372915 | A | AAACAACA others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01496.hp2 HG02015.hp2 others(18): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0002g0031a0001c0001t0002g0037a0001c0001t0002g0167others(17): Show | 21 | 350 | 0.0600 | 15 | c.236 others(32): Show |
ITGAX | ENSG00000140678.17 | transcript | ENST00000268296.9 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGB1_chr10_32895318_32963230 | 32948971 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02809.hp1 HG04115.hp1 others(5): Show |
a0001 | a0001c0001a0001c0009a0001c0012 | a0001c0001t0003a0001c0009t0001a0001c0012t0003 | a0001c0001t0003g0113a0001c0001t0003g0146a0001c0001t0003g0147others(5): Show | 8 | 424 | 0.0189 | 15 | c.-1+ others(30): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 1/15 | chr10 | TogoVar | ||||||
ITGB1_chr10_32895318_32963230 | 32961751 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG03471.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002a0001c0001t0004g0042a0001c0001t0004g0046 | 3 | 424 | 0.0071 | 15 | c.-36 others(26): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 3522 | chr10 | TogoVar | ||||||
ITGB2_chr21_44880953_44925899 | 44895841 | A | AAAATGAA others(8): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03654.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0263a0001c0008t0001g0159 | 2 | 444 | 0.0045 | 15 | c.994 others(30): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 8/15 | chr21 | TogoVar | ||||||
ITGB3_chr17_47248827_47318743 | 47288241 | A | AGAGAGAG others(8): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0037 | 1 | 370 | 0.0027 | 15 | c.939 others(32): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
ITGB3_chr17_47248827_47318743 | 47308160 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG01433.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0001a0001c0001t0011a0001c0002t0003others(2): Show | a0001c0001t0001g0071a0001c0001t0001g0077a0001c0001t0001g0095others(11): Show | 14 | 370 | 0.0378 | 15 | c.230 others(32): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ITGB5_chr3_124756948_124892365 | 124798055 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01081.hp2 others(27): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0014a0001c0002t0003a0001c0002t0005others(7): Show | a0001c0001t0014g0310a0001c0002t0003g0052a0001c0002t0003g0253others(27): Show | 30 | 352 | 0.0852 | 15 | c.126 others(34): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 9/14 | chr3 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124870749 | C | CCCTGCCC others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(12): Show | a0001c0001t0001g0334a0001c0001t0001g0339a0001c0001t0002g0239others(43): Show | 46 | 352 | 0.1307 | 15 | c.156 others(32): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 2/14 | chr3 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101588297 | T | TTGGTGTG others(8): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0237 | 1 | 306 | 0.0033 | 15 | c.868 others(32): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101622929 | G | GTGGGGTA others(8): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0168 | 1 | 306 | 0.0033 | 15 | c.101 others(36): 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(8): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18970.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0295a0001c0003t0001g0145 | 2 | 306 | 0.0065 | 15 | c.101 others(34): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7723058 | A | AGTGGAGT others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG04115.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0263a0001c0002t0001g0264a0001c0002t0001g0265 | 3 | 380 | 0.0079 | 15 | c.868 others(30): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7723148 | C | CGTGGCGT others(8): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0283a0001c0002t0001g0284 | 2 | 380 | 0.0053 | 15 | c.868 others(30): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7724570 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02622.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290a0001c0001t0001g0291a0001c0001t0001g0292 | 3 | 380 | 0.0079 | 15 | c.984 others(32): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7737675 | T | TAGAATAT others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0169 | 2 | 380 | 0.0053 | 15 | c.195 others(32): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH5_chr10_7554270_7671966 | 7597044 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(54): Show |
a0000a0001a0002others(9): Show | a0000c0014a0000c0025a0001c0001others(18): Show | a0000c0014t0034a0000c0025t0004a0001c0001t0001others(30): Show | a0000c0014t0034g0190a0000c0025t0004g0264a0001c0001t0001g0029others(54): Show | 57 | 342 | 0.1667 | 15 | c.940 others(34): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7644913 | C | CATATATA others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0009 | a0009c0027 | a0009c0027t0001 | a0009c0027t0001g0035 | 1 | 342 | 0.0029 | 15 | c.136 others(32): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar |