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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ISM1_chr20_13216274_13305651 | 13268347 | CCTCTCTC others(19): Show |
C | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 12 | 0.0833 | -26 | c.139 others(43): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITCH_chr20_34358273_34516773 | 34471673 | GGTGTGTG others(19): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 89 | 0.0112 | -26 | c.156 others(43): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITGA10_chr1_145886208_145915050 | 145903002 | GACACACA others(19): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0076 | 1 | 376 | 0.0027 | -26 | c.759 others(39): Show |
ITGA10 | ENSG00000143127.13 | transcript | ENST00000369304.8 | protein_coding | 7/29 | chr1 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68302055 | AGTGTGTG others(19): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02970.hp1 | a0008 | a0008c0082 | a0008c0082t0028 | a0008c0082t0028g0124 | 1 | 27 | 0.0370 | -26 | c.*97 others(36): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 30/30 | 978 | chr15 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68397264 | TAAAAATA others(19): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02965.hp1 HG02970.hp1 |
a0001a0004a0008 | a0001c0078a0004c0077a0008c0082 | a0001c0078t0004a0004c0077t0006a0008c0082t0028 | a0001c0078t0004g0078 a0004c0077t0006g0222 a0008c0082t0028g0124 |
3 | 233 | 0.0129 | -26 | c.164 others(43): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368126 | ATATATAT others(19): Show |
A | downstream_gene_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 302 | 0.0033 | -26 | c.*42 others(37): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4054 | chr17 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368128 | ATATATAT others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 1 | 303 | 0.0033 | -26 | c.*42 others(37): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4052 | chr17 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368130 | ATATATAT others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01175.hp2 HG01192.hp1 others(3): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0009 a0002c0002t0001g0024 a0002c0002t0001g0104 others(3): Show |
6 | 322 | 0.0186 | -26 | c.*42 others(37): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4050 | chr17 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368132 | ATATATAT others(19): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp2 HG02040.hp2 HG02129.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0145 |
5 | 347 | 0.0144 | -26 | c.*42 others(37): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4048 | chr17 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368134 | ATATATAT others(19): Show |
A | downstream_gene_variant | MODIFIER | NA18952.hp1 NA18965.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0003 a0002c0002t0002g0143 |
2 | 349 | 0.0057 | -26 | c.*42 others(37): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4046 | chr17 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15561209 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG01884.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0114 a0001c0007t0002g0128 |
2 | 134 | 0.0149 | -26 | c.263 others(45): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 25/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15644433 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00642.hp1 others(34): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0125 others(34): Show |
37 | 100 | 0.3700 | -26 | c.120 others(43): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 12/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15644467 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 |
a0001 | a0001c0008 | a0001c0008t0010 | a0001c0008t0010g0035 a0001c0008t0010g0038 |
2 | 218 | 0.0092 | -26 | c.120 others(43): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 12/29 | chr10 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512013 | CTTTTCTT others(19): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0087 | 1 | 148 | 0.0068 | -26 | c.898 others(43): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512179 | CTTTTCTT others(19): Show |
C | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0141 | 1 | 166 | 0.0060 | -26 | c.898 others(43): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37530717 | GTTTTTTT others(19): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG03540.hp1 |
a0002 | a0002c0007 | a0002c0007t0002a0002c0007t0005 | a0002c0007t0002g0094 a0002c0007t0005g0095 |
2 | 3 | 0.6667 | -26 | c.137 others(45): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31272447 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03209.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0123 a0002c0003t0003g0125 |
2 | 235 | 0.0085 | -26 | c.704 others(41): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31272449 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02486.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0122 a0002c0003t0003g0124 |
2 | 236 | 0.0085 | -26 | c.704 others(41): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31272451 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02970.hp1 others(1): Show |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0003a0004c0006t0003 | a0002c0003t0003g0006 a0002c0003t0003g0121 a0004c0006t0003g0013 others(1): Show |
4 | 222 | 0.0180 | -26 | c.704 others(41): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31302972 | CTTTCTTT others(19): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0095 | 1 | 242 | 0.0041 | -26 | c.170 others(45): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124886749 | GGCGGGGC others(19): Show |
G | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0012 | 1 | 350 | 0.0029 | -26 | c.70+ others(39): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
ITIH2_chr10_7698316_7754520 | 7710994 | CATGTGCC others(19): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp1 HG01256.hp2 others(8): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0351 a0003c0004t0001g0352 a0003c0004t0001g0353 others(8): Show |
11 | 378 | 0.0291 | -26 | c.362 others(43): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737652 | ATTATATT others(19): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 a0002c0003t0001g0046 a0002c0003t0001g0188 others(3): Show |
7 | 378 | 0.0185 | -26 | c.195 others(43): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737660 | CTATATTA others(19): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01069.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0067 others(11): Show |
14 | 320 | 0.0438 | -26 | c.195 others(43): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH3_chr3_52789796_52813797 | 52803293 | TATTTATT others(19): Show |
T | intron_variant | MODIFIER | HG03017.hp1 HG03942.hp1 |
a0004 | a0004c0008a0004c0018 | a0004c0008t0001a0004c0018t0001 | a0004c0008t0001g0055 a0004c0018t0001g0016 |
2 | 412 | 0.0049 | -26 | c.170 others(43): Show |
ITIH3 | ENSG00000162267.14 | transcript | ENST00000449956.3 | protein_coding | 13/21 | chr3 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624889 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG02015.hp1 NA19005.hp2 NA19068.hp1 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001a0003c0002t0045 | a0001c0001t0001g0274 a0003c0002t0001g0273 a0003c0002t0045g0272 |
3 | 340 | 0.0088 | -26 | c.653 others(43): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITLN2_chr1_160940025_160959809 | 160949137 | TTTGACGT others(19): Show |
T | intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0112 | 1 | 478 | 0.0021 | -26 | c.721 others(41): Show |
ITLN2 | ENSG00000158764.7 | transcript | ENST00000368029.4 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
ITM2B_chr13_48228206_48275357 | 48229664 | CTCTCTCT others(19): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0005 | 2 | 329 | 0.0061 | -26 | c.-36 others(37): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 3541 | chr13 | TogoVar | |||||||
ITPK1_chr14_92931914_93120925 | 93000448 | TTTTTATT others(19): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0092 | 1 | 242 | 0.0041 | -26 | c.247 others(43): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 4/10 | chr14 | TogoVar | |||||||
ITPR1_chr3_4488348_4852506 | 4609051 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0016a0001c0017a0001c0019others(4): Show | a0001c0016t0006a0001c0017t0007a0001c0019t0014others(4): Show | a0001c0016t0006g0030 a0001c0017t0007g0173 a0001c0019t0014g0163 others(4): Show |
7 | 42 | 0.1667 | -26 | c.164 others(45): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4609065 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp2 HG01257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0005a0001c0002t0001a0001c0009t0001others(4): Show | a0001c0001t0005g0072 a0001c0002t0001g0162 a0001c0009t0001g0057 others(5): Show |
8 | 174 | 0.0460 | -26 | c.164 others(45): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26461621 | CATATAAA others(19): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG03516.hp2 NA20300.hp2 |
a0001a0002 | a0001c0008a0002c0009a0002c0010 | a0001c0008t0037a0002c0009t0001a0002c0010t0016 | a0001c0008t0037g0018 a0002c0009t0001g0015 a0002c0010t0016g0014 |
3 | 70 | 0.0429 | -26 | c.634 others(47): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 45/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26589809 | AAAATAAA others(19): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0021 | 1 | 140 | 0.0071 | -26 | c.438 others(45): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 32/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26831773 | CTACATAA others(19): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01192.hp1 HG02922.hp2 others(7): Show |
a0001a0002a0005 | a0001c0008a0001c0015a0001c0016others(5): Show | a0001c0008t0043a0001c0015t0004a0001c0015t0044others(6): Show | a0001c0008t0043g0111 a0001c0015t0004g0032 a0001c0015t0044g0106 others(7): Show |
10 | 108 | 0.0926 | -26 | c.92+ others(39): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 1/56 | chr12 | TogoVar | |||||||
ITPRID1_chr7_31509090_31661504 | 31599607 | TTCTTTCT others(19): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0009 | a0009c0047 | a0009c0047t0005 | a0009c0047t0005g0083 | 1 | 202 | 0.0050 | -26 | c.122 others(47): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRIPL1_chr2_96320317_96333353 | 96329149 | TTATATAT others(19): Show |
T | downstream_gene_variant | MODIFIER | NA18949.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 54 | 0.0370 | -26 | c.*85 others(35): Show |
ITPRIPL1 | ENSG00000198885.10 | transcript | ENST00000439118.3 | protein_coding | 797 | chr2 | TogoVar | |||||||
ITPRIP_chr10_104304700_104343465 | 104306050 | TGTGTGCG others(19): Show |
T | downstream_gene_variant | MODIFIER | HG01123.hp1 HG02976.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0028 | a0001c0001t0002g0003 a0001c0001t0002g0047 a0001c0001t0006g0029 others(1): Show |
4 | 321 | 0.0125 | -26 | c.*83 others(37): Show |
ITPRIP | ENSG00000148841.17 | transcript | ENST00000337478.3 | protein_coding | 3649 | chr10 | TogoVar | |||||||
ITSN1_chr21_33637501_33904861 | 33690789 | ACATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0120 | 1 | 240 | 0.0042 | -26 | c.-32 others(45): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | chr21 | TogoVar | |||||||
ITSN1_chr21_33637501_33904861 | 33876121 | CTTTCTTT others(19): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0078 | 1 | 166 | 0.0060 | -26 | c.434 others(43): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 34/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITSN2_chr2_24197864_24365536 | 24223850 | GAAAGAAA others(19): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(113): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0018a0001c0021others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(113): Show |
116 | 222 | 0.5225 | -26 | c.357 others(45): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 29/39 | chr2 | TogoVar | |||||||
IWS1_chr2_127475812_127531489 | 127477594 | AAGGCAAT others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0128 | 1 | 336 | 0.0030 | -26 | c.*34 others(37): Show |
IWS1 | ENSG00000163166.15 | transcript | ENST00000295321.9 | protein_coding | 3217 | chr2 | TogoVar | |||||||
IYD_chr6_150364012_150410969 | 150367963 | TTCTTTCT others(19): Show |
T | upstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 412 | 0.0024 | -26 | c.-10 others(37): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1048 | chr6 | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 5005083 | ATTTTTTT others(19): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 24 | 0.0417 | -26 | c.-25 others(45): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAK2_chr9_4980272_5134948 | 5101284 | ACAGCAGC others(19): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 362 | 0.0028 | -26 | c.305 others(47): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6098668 | GAGAGAAA others(19): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG03486.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0009 a0001c0003t0001g0152 |
2 | 226 | 0.0088 | -26 | c.624 others(43): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6098696 | GAAAGAAA others(19): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG01358.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0053 a0001c0001t0001g0147 a0001c0001t0001g0205 others(1): Show |
4 | 232 | 0.0172 | -26 | c.624 others(43): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6098713 | AAAGAAAG others(19): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01361.hp1 HG01975.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0008 a0001c0001t0001g0044 a0001c0001t0001g0045 others(16): Show |
19 | 232 | 0.0819 | -26 | c.624 others(43): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132149775 | CCCCTGCC others(19): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02027.hp1 HG02074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0113 others(2): Show |
5 | 118 | 0.0424 | -26 | c.194 others(43): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132159293 | GGGGCGCC others(19): Show |
G | intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0037 | a0002c0037t0001 | a0002c0037t0001g0140 | 1 | 156 | 0.0064 | -26 | c.222 others(45): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132159715 | GCTGGGGG others(19): Show |
G | intron_variant | MODIFIER | NA19091.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0123 | 1 | 154 | 0.0065 | -26 | c.222 others(45): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |