view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IST1_chr16_71890531_71936199 | 71893004 | TACAGGCA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 352 | 0.0028 | -17 | c.-26 others(28): Show |
IST1 | ENSG00000182149.21 | transcript | ENST00000378799.11 | protein_coding | 2526 | chr16 | TogoVar | |||||||
IST1_chr16_71890531_71936199 | 71933978 | GGCTCGGC others(10): Show |
G | downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 352 | 0.0028 | -17 | c.*61 others(28): Show |
IST1 | ENSG00000182149.21 | transcript | ENST00000378799.11 | protein_coding | 2780 | chr16 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47400702 | GGAGGTAG others(10): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01109.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0066 a0001c0001t0001g0100 a0001c0001t0001g0101 others(39): Show |
42 | 110 | 0.3818 | -17 | c.656 others(36): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47409392 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0090 | 1 | 110 | 0.0091 | -17 | c.655 others(36): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47461746 | GGAATGTG others(10): Show |
G | upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 110 | 0.0091 | -17 | c.-71 others(26): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 684 | chr16 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68397748 | ATATTATA others(10): Show |
A | intron_variant | MODIFIER | NA18960.hp2 | a0007 | a0007c0051 | a0007c0051t0038 | a0007c0051t0038g0159 | 1 | 242 | 0.0041 | -17 | c.164 others(34): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52936723 | TCACTACT others(10): Show |
T | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0082 | 1 | 322 | 0.0031 | -17 | c.296 others(34): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA2_chr5_52984352_53099779 | 52987758 | CCCAAACA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02970.hp1 HG03486.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0026 | a0001c0001t0002g0273 a0002c0003t0026g0274 a0002c0003t0026g0275 |
3 | 398 | 0.0075 | -17 | c.-17 others(28): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 1593 | chr5 | TogoVar | |||||||
ITGA2_chr5_52984352_53099779 | 52988948 | AGCCGGGC others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp2 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0301 a0001c0001t0005g0330 |
2 | 398 | 0.0050 | -17 | c.-52 others(26): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 403 | chr5 | TogoVar | |||||||
ITGA2_chr5_52984352_53099779 | 53004894 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(31): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0022others(1): Show | a0001c0001t0002a0001c0002t0004a0001c0002t0019others(3): Show | a0001c0001t0002g0243 a0001c0002t0004g0003 a0001c0002t0004g0106 others(29): Show |
34 | 398 | 0.0854 | -17 | c.64+ others(34): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA4_chr2_181452386_181543940 | 181509135 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(111): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0009others(23): Show | a0001c0001t0002g0282 a0001c0002t0003g0013 a0001c0002t0003g0014 others(104): Show |
114 | 368 | 0.3098 | -17 | c.169 others(34): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA4_chr2_181452386_181543940 | 181526821 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02451.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0049a0002c0005t0001others(1): Show | a0001c0001t0001g0277 a0001c0002t0049g0274 a0002c0005t0001g0008 others(4): Show |
10 | 368 | 0.0272 | -17 | c.234 others(34): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15644477 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01099.hp2 HG01433.hp2 others(6): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0035a0003c0003t0006others(3): Show | a0001c0001t0001g0182 a0001c0001t0035g0162 a0003c0003t0006g0013 others(6): Show |
9 | 220 | 0.0409 | -17 | c.120 others(34): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 12/29 | chr10 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512122 | TTCTTTTC others(10): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG02165.hp2 NA18943.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0012 | a0001c0001t0022a0001c0006t0001a0001c0012t0001others(1): Show | a0001c0001t0022g0163 a0001c0006t0001g0141 a0001c0012t0001g0122 others(1): Show |
4 | 168 | 0.0238 | -17 | c.898 others(34): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37513150 | TGTCAAAT others(10): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01981.hp1 HG02572.hp1 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0004others(5): Show | a0001c0001t0005a0001c0001t0007a0002c0002t0005others(10): Show | a0001c0001t0005g0076 a0001c0001t0007g0045 a0002c0002t0005g0050 others(12): Show |
15 | 168 | 0.0893 | -17 | c.898 others(32): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
ITGAE_chr17_3709628_3806188 | 3737428 | AGGTGGCT others(10): Show |
A | intron_variant | MODIFIER | NA18906.hp1 NA18969.hp1 NA19087.hp1 |
a0001a0007a0034 | a0001c0001a0007c0006a0034c0048 | a0001c0001t0001a0007c0006t0001a0034c0048t0001 | a0001c0001t0001g0040 a0007c0006t0001g0166 a0034c0048t0001g0223 |
3 | 302 | 0.0099 | -17 | c.252 others(36): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 20/30 | chr17 | TogoVar | |||||||
ITGAE_chr17_3709628_3806188 | 3797143 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG01884.hp2 others(16): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(8): Show | a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0034 others(16): Show |
19 | 302 | 0.0629 | -17 | c.34+ others(32): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31272451 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02080.hp1 HG02922.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0007t0004 | a0001c0002t0002g0094 a0001c0007t0004g0109 |
2 | 244 | 0.0082 | -17 | c.704 others(32): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31272453 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01070.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035 a0001c0002t0002g0043 a0001c0002t0002g0052 others(4): Show |
7 | 244 | 0.0287 | -17 | c.704 others(32): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31272455 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 244 | 0.0041 | -17 | c.704 others(32): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334732 | CTTTCTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0142 | 1 | 244 | 0.0041 | -17 | c.*30 others(28): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1856 | chr16 | TogoVar | |||||||
ITGB2_chr21_44880953_44925899 | 44900637 | CACGCCCA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(10): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0002others(1): Show | a0001c0002t0001g0010 a0001c0002t0001g0074 a0001c0002t0001g0105 others(8): Show |
13 | 444 | 0.0293 | -17 | c.742 others(32): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 6/15 | chr21 | TogoVar | |||||||
ITGB2_chr21_44880953_44925899 | 44919217 | ATGGCACC others(10): Show |
A | intron_variant | MODIFIER | NA18946.hp1 NA18962.hp1 NA19005.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0002t0001g0040 others(2): Show |
5 | 444 | 0.0113 | -17 | c.-4+ others(32): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 1/15 | chr21 | TogoVar | |||||||
ITGB3BP_chr1_63435770_63528225 | 63473637 | CCCGGCCA others(10): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0355 | 1 | 374 | 0.0027 | -17 | c.254 others(34): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
ITGB5_chr3_124756948_124892365 | 124866193 | GGCTGGTC others(10): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0007a0001c0013 | a0001c0001t0007a0001c0001t0013a0001c0007t0007others(1): Show | a0001c0001t0007g0001 a0001c0001t0007g0003 a0001c0001t0007g0005 others(7): Show |
11 | 352 | 0.0313 | -17 | c.157 others(34): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 2/14 | chr3 | TogoVar | |||||||
ITIH1_chr3_52772599_52797062 | 52781206 | TTTTTCTT others(10): Show |
T | intron_variant | MODIFIER | HG00673.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0110 | 1 | 406 | 0.0025 | -17 | c.688 others(32): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7746068 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 380 | 0.0026 | -17 | c.258 others(34): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7748521 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01256.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0170 |
3 | 380 | 0.0079 | -17 | c.269 others(34): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566792 | AAGAAGAA others(10): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01123.hp1 HG01433.hp1 others(10): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0006a0001c0069others(5): Show | a0001c0001t0001a0001c0001t0017a0001c0006t0001others(6): Show | a0001c0001t0001g0038 a0001c0001t0001g0092 a0001c0001t0001g0261 others(10): Show |
13 | 342 | 0.0380 | -17 | c.215 others(34): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644936 | TCACATAT others(10): Show |
T | intron_variant | MODIFIER | HG03098.hp2 NA18999.hp1 |
a0003 | a0003c0002a0003c0060 | a0003c0002t0001a0003c0060t0052 | a0003c0002t0001g0076 a0003c0060t0052g0277 |
2 | 342 | 0.0059 | -17 | c.136 others(34): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITK_chr5_157175840_157260185 | 157233944 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | NA18943.hp2 NA18967.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0119 a0002c0003t0001g0275 |
2 | 348 | 0.0058 | -17 | c.768 others(34): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | chr5 | TogoVar | |||||||
ITK_chr5_157175840_157260185 | 157233946 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG03710.hp2 HG03942.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0017 a0001c0001t0001g0098 a0001c0001t0001g0136 others(6): Show |
9 | 348 | 0.0259 | -17 | c.768 others(34): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | chr5 | TogoVar | |||||||
ITK_chr5_157175840_157260185 | 157233947 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA18942.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 a0001c0001t0001g0251 |
2 | 348 | 0.0058 | -17 | c.768 others(34): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157233949 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 348 | 0.0029 | -17 | c.768 others(34): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157233955 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027 | a0001c0001t0004g0033 a0001c0001t0004g0048 a0001c0001t0004g0249 others(1): Show |
4 | 348 | 0.0115 | -17 | c.768 others(34): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157233957 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 2 | 348 | 0.0058 | -17 | c.768 others(34): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITM2B_chr13_48228206_48275357 | 48229668 | CTCTCTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02055.hp1 HG03579.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0012a0003c0005t0012a0003c0005t0035 | a0001c0001t0012g0118 a0001c0001t0012g0119 a0003c0005t0012g0117 others(1): Show |
4 | 338 | 0.0118 | -17 | c.-36 others(28): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 3537 | chr13 | TogoVar | |||||||
ITM2B_chr13_48228206_48275357 | 48229670 | CTCTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027a0001c0001t0033others(2): Show | a0001c0001t0001g0100 a0001c0001t0027g0043 a0001c0001t0027g0111 others(3): Show |
6 | 338 | 0.0178 | -17 | c.-36 others(28): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 3535 | chr13 | TogoVar | |||||||
ITPK1_chr14_92931914_93120925 | 93062643 | TCAGAACA others(10): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02145.hp1 HG02486.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023a0001c0001t0026others(2): Show | a0001c0001t0004g0010 a0001c0001t0004g0158 a0001c0001t0004g0159 others(8): Show |
11 | 243 | 0.0453 | -17 | c.120 others(36): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 3/10 | chr14 | TogoVar | |||||||
ITPK1_chr14_92931914_93120925 | 93075326 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0078 | 1 | 243 | 0.0041 | -17 | c.120 others(34): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 3/10 | chr14 | TogoVar | |||||||
ITPKB_chr1_226626690_226744282 | 226700465 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0004 | a0004c0004 | a0004c0004t0012 | a0004c0004t0012g0136 | 1 | 350 | 0.0029 | -17 | c.193 others(38): Show |
ITPKB | ENSG00000143772.11 | transcript | ENST00000429204.6 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
ITPR1_chr3_4488348_4852506 | 4806435 | ACAGGAAT others(10): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172 | 1 | 176 | 0.0057 | -17 | c.727 others(34): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4807105 | GGGGGGCT others(10): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02970.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0008a0001c0051others(1): Show | a0001c0001t0001a0001c0008t0001a0001c0051t0001others(1): Show | a0001c0001t0001g0068 a0001c0008t0001g0020 a0001c0051t0001g0116 others(1): Show |
4 | 176 | 0.0227 | -17 | c.727 others(34): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4840029 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG03195.hp1 HG03654.hp2 others(4): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0004t0021a0001c0005t0008others(4): Show | a0001c0001t0001g0004 a0001c0004t0021g0115 a0001c0005t0008g0082 others(4): Show |
7 | 176 | 0.0398 | -17 | c.819 others(36): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 61/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26488678 | AGACCTCT others(10): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG00741.hp1 others(7): Show |
a0001 | a0001c0012a0001c0013a0001c0022others(4): Show | a0001c0012t0005a0001c0012t0006a0001c0012t0039others(7): Show | a0001c0012t0005g0023 a0001c0012t0006g0080 a0001c0012t0039g0079 others(7): Show |
10 | 142 | 0.0704 | -17 | c.537 others(36): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 39/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26567980 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG03579.hp1 |
a0001 | a0001c0006a0001c0049 | a0001c0006t0030a0001c0049t0028 | a0001c0006t0030g0030 a0001c0049t0028g0103 |
2 | 142 | 0.0141 | -17 | c.463 others(36): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26589812 | ATAAATAA others(10): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01070.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0007others(16): Show | a0001c0001t0003a0001c0006t0030a0001c0007t0001others(18): Show | a0001c0001t0003g0065 a0001c0006t0030g0030 a0001c0007t0001g0057 others(18): Show |
21 | 142 | 0.1479 | -17 | c.438 others(36): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 32/56 | chr12 | TogoVar | |||||||
ITPRIPL1_chr2_96320317_96333353 | 96329147 | AATTATAT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02922.hp1 NA18955.hp1 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0001a0002c0002t0001 | a0001c0005t0001g0004 a0002c0002t0001g0001 |
3 | 364 | 0.0082 | -17 | c.*84 others(26): Show |
ITPRIPL1 | ENSG00000198885.10 | transcript | ENST00000439118.3 | protein_coding | 795 | chr2 | TogoVar | |||||||
ITSN1_chr21_33637501_33904861 | 33800889 | ACTGCAAC others(10): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02818.hp1 others(5): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0027others(2): Show | a0001c0002t0013a0001c0002t0070a0001c0003t0025others(4): Show | a0001c0002t0013g0241 a0001c0002t0070g0242 a0001c0003t0025g0055 others(5): Show |
8 | 242 | 0.0331 | -17 | c.230 others(36): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 19/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITSN2_chr2_24197864_24365536 | 24272966 | TGCCACCA others(10): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0010 | a0003c0010t0005 | a0003c0010t0005g0222 | 1 | 224 | 0.0045 | -17 | c.208 others(36): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 18/39 | chr2 | TogoVar |