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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ISX_chr22_35061158_35092387 | 35084706 | C | CTCCCTTA others(10): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01256.hp1 others(10): Show |
a0006a0007a0010 | a0006c0007a0007c0008a0010c0017 | a0006c0007t0005a0007c0008t0005a0010c0017t0006 | a0006c0007t0005g0006 a0006c0007t0005g0091 a0006c0007t0005g0092 others(3): Show |
13 | 410 | 0.0317 | 17 | c.498 others(32): Show |
ISX | ENSG00000175329.13 | transcript | ENST00000404699.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ITCH_chr20_34358273_34516773 | 34372384 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0154 | 1 | 294 | 0.0034 | 17 | c.-22 others(34): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITFG1_chr16_47149391_47466063 | 47409404 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0110 |
2 | 110 | 0.0182 | 17 | c.655 others(36): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47409404 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 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 | 47409404 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093 | 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 | 47409404 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0086 | 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 | 47409404 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0085 | 1 | 110 | 0.0091 | 17 | c.655 others(36): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68396932 | A | ATACAATA others(10): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0034 | a0001c0034t0021 | a0001c0034t0021g0023 | 1 | 242 | 0.0041 | 17 | c.164 others(34): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68433506 | T | TGTGTGTG others(10): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0215 | 1 | 242 | 0.0041 | 17 | c.-14 others(28): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 1344 | chr15 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52834585 | G | GAGAGAAG others(10): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0008 | a0008c0019 | a0008c0019t0007 | a0008c0019t0007g0122 | 1 | 322 | 0.0031 | 17 | c.62- others(34): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44368146 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 354 | 0.0028 | 17 | c.*42 others(28): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4034 | chr17 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368146 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 354 | 0.0028 | 17 | c.*42 others(28): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4034 | chr17 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368147 | T | TATATATA others(10): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG04204.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0051 a0003c0004t0001g0065 |
2 | 354 | 0.0057 | 17 | c.*42 others(28): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
ITGA2_chr5_52984352_53099779 | 52999054 | T | TAGTAACA others(10): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0232 | 1 | 398 | 0.0025 | 17 | c.64+ others(32): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
ITGA4_chr2_181452386_181543940 | 181526821 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01891.hp2 HG02015.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0049 others(9): Show |
12 | 368 | 0.0326 | 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 | 15549201 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02258.hp2 HG03579.hp2 |
a0001a0004a0005 | a0001c0008a0004c0013a0005c0005 | a0001c0008t0010a0004c0013t0022a0005c0005t0004 | a0001c0008t0010g0036 a0004c0013t0022g0218 a0005c0005t0004g0165 |
3 | 220 | 0.0136 | 17 | c.276 others(34): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 26/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15565573 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18941.hp2 NA18983.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0007 | a0001c0001t0004g0153 a0003c0003t0007g0010 a0003c0003t0007g0030 |
3 | 220 | 0.0136 | 17 | c.263 others(36): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 25/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15662326 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0024 | a0004c0024t0039 | a0004c0024t0039g0212 | 1 | 220 | 0.0046 | 17 | c.848 others(34): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 8/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15720862 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0004 | a0004c0025 | a0004c0025t0002 | a0004c0025t0002g0106 | 1 | 220 | 0.0046 | 17 | c.-10 others(28): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 941 | chr10 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512120 | C | CCTTCCTT others(10): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0004 | 1 | 168 | 0.0060 | 17 | c.898 others(34): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37818191 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18747.hp1 NA18982.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0017 | a0001c0001t0004a0002c0017t0004 | a0001c0001t0004g0012 a0001c0001t0004g0015 a0001c0001t0004g0066 others(1): Show |
4 | 168 | 0.0238 | 17 | c.301 others(34): 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(10): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0011 | a0002c0011t0015 | a0002c0011t0015g0053 | 1 | 168 | 0.0060 | 17 | c.301 others(34): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 27/27 | chr3 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31272463 | A | ATATATTT others(10): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 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 | ||||||
ITGAV_chr2_186585056_186685901 | 186605753 | T | TATTTATA others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG02056.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0172 a0001c0001t0001g0231 a0001c0001t0001g0232 others(5): Show |
8 | 308 | 0.0260 | 17 | c.316 others(34): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 308 | 0.0033 | 17 | c.243 others(34): 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(10): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0127 | 1 | 308 | 0.0033 | 17 | c.243 others(34): 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(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0275 a0001c0001t0002g0084 |
2 | 308 | 0.0065 | 17 | c.243 others(34): 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(10): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0109 | 1 | 308 | 0.0033 | 17 | c.243 others(34): 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(10): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 308 | 0.0033 | 17 | c.243 others(34): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGB1_chr10_32895318_32963230 | 32961751 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 a0001c0001t0004g0040 |
2 | 424 | 0.0047 | 17 | c.-36 others(28): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 3522 | chr10 | TogoVar | |||||||
ITGB4_chr17_75716459_75762818 | 75762475 | T | TCTACATT others(10): Show |
downstream_gene_variant | MODIFIER | NA18942.hp1 | a0021 | a0021c0043 | a0021c0043t0001 | a0021c0043t0001g0340 | 1 | 382 | 0.0026 | 17 | c.*49 others(28): Show |
ITGB4 | ENSG00000132470.14 | transcript | ENST00000200181.8 | protein_coding | 4658 | chr17 | TogoVar | |||||||
ITGB5_chr3_124756948_124892365 | 124798055 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02976.hp1 NA19012.hp1 NA19072.hp1 |
a0001 | a0001c0002a0001c0025 | a0001c0002t0005a0001c0025t0012 | a0001c0002t0005g0329 a0001c0002t0005g0343 a0001c0025t0012g0002 |
3 | 352 | 0.0085 | 17 | c.126 others(36): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 9/14 | chr3 | TogoVar | |||||||
ITGB8_chr7_20325900_20420754 | 20407246 | T | TCAGGGGT others(10): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0191 | 1 | 342 | 0.0029 | 17 | c.202 others(36): Show |
ITGB8 | ENSG00000105855.10 | transcript | ENST00000222573.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITGB8_chr7_20325900_20420754 | 20407246 | T | TCAGTGGT others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(52): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0019a0001c0002t0004a0001c0003t0004others(26): Show | a0001c0001t0019g0090 a0001c0001t0019g0291 a0001c0002t0004g0223 others(51): Show |
55 | 342 | 0.1608 | 17 | c.202 others(36): Show |
ITGB8 | ENSG00000105855.10 | transcript | ENST00000222573.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566764 | A | AGAGAGAA others(10): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0134 | 1 | 342 | 0.0029 | 17 | c.215 others(34): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7597044 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01255.hp1 others(19): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0056others(13): Show | a0001c0001t0001a0001c0006t0001a0001c0056t0001others(13): Show | a0001c0001t0001g0044 a0001c0006t0001g0107 a0001c0006t0001g0152 others(19): Show |
22 | 342 | 0.0643 | 17 | c.940 others(36): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644910 | T | TATCACAT others(10): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01975.hp2 others(1): Show |
a0002a0003 | a0002c0004a0003c0002 | a0002c0004t0001a0003c0002t0001 | a0002c0004t0001g0001 a0003c0002t0001g0035 a0003c0002t0001g0072 |
4 | 342 | 0.0117 | 17 | c.136 others(34): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITK_chr5_157175840_157260185 | 157233963 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18957.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0039 a0001c0001t0002g0079 a0001c0001t0002g0271 |
3 | 348 | 0.0086 | 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 | 157233963 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0284 | 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 | 157233964 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03017.hp2 HG04115.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0110 others(5): Show |
8 | 348 | 0.0230 | 17 | c.768 others(34): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | chr5 | TogoVar | |||||||
ITLN2_chr1_160940025_160959809 | 160942871 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00735.hp2 others(31): Show |
a0001a0008 | a0001c0001a0001c0012a0008c0009 | a0001c0001t0001a0001c0001t0004a0001c0012t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(13): Show |
34 | 480 | 0.0708 | 17 | c.*22 others(28): Show |
ITLN2 | ENSG00000158764.7 | transcript | ENST00000368029.4 | protein_coding | 2153 | chr1 | TogoVar | |||||||
ITPK1_chr14_92931914_93120925 | 93100526 | G | GGAGAGAG others(10): Show |
intron_variant | MODIFIER | HG03209.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0071 | a0001c0001t0036g0239 a0001c0001t0071g0238 |
2 | 243 | 0.0082 | 17 | c.95+ others(34): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 2/10 | chr14 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26617721 | A | AAGGAGAG others(10): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01433.hp1 HG02040.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0005a0001c0008a0001c0024others(5): Show | a0001c0005t0005a0001c0005t0031a0001c0008t0002others(6): Show | a0001c0005t0005g0086 a0001c0005t0031g0104 a0001c0008t0002g0097 others(6): Show |
9 | 142 | 0.0634 | 17 | c.346 others(36): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 26/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26666162 | A | ATAGATAG others(10): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01071.hp2 others(19): Show |
a0001a0002a0012 | a0001c0002a0001c0004a0001c0005others(12): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0029others(18): Show | a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0004g0092 others(19): Show |
22 | 142 | 0.1549 | 17 | c.141 others(34): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 13/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26786449 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 142 | 0.0070 | 17 | c.163 others(34): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITPR3_chr6_33616322_33701562 | 33661992 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03239.hp2 NA20905.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0140 a0001c0005t0001g0302 |
2 | 342 | 0.0059 | 17 | c.712 others(32): Show |
ITPR3 | ENSG00000096433.11 | transcript | ENST00000605930.3 | protein_coding | 7/57 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31588631 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18999.hp2 NA19078.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0002 | a0001c0003t0001g0016 a0002c0001t0002g0188 |
2 | 312 | 0.0064 | 17 | c.122 others(36): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRIPL2_chr16_19108964_19126629 | 19110393 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG03130.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0101a0002c0002t0021 | a0001c0001t0101g0000 a0002c0002t0021g0000 |
2 | 330 | 0.0061 | 17 | c.-40 others(28): Show |
ITPRIPL2 | ENSG00000205730.7 | transcript | ENST00000381440.5 | protein_coding | 3570 | chr16 | TogoVar | |||||||
ITPRIP_chr10_104304700_104343465 | 104309330 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0035 | 2 | 324 | 0.0062 | 17 | c.*50 others(28): Show |
ITPRIP | ENSG00000148841.17 | transcript | ENST00000337478.3 | protein_coding | 369 | chr10 | TogoVar | |||||||
ITPRIP_chr10_104304700_104343465 | 104309330 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 NA18972.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0190 |
3 | 324 | 0.0093 | 17 | c.*50 others(28): Show |
ITPRIP | ENSG00000148841.17 | transcript | ENST00000337478.3 | protein_coding | 369 | chr10 | TogoVar |