| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ITIH4_chr3_52807962_52835672 | 52812970 | ATTTTTTT others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0002c0005others(1): Show | a0001c0001t0004a0001c0004t0004a0002c0005t0004others(1): Show | a0001c0001t0004g0034a0001c0004t0004g0003a0001c0004t0004g0013others(7): Show | 28 | 390 | 0.0718 | -11 | c.*44 others(20): Show |
ITIH4 | ENSG00000055955.17 | transcript | ENST00000266041.9 | protein_coding | 24/24 | 440 | chr3 | TogoVar | |||||
| ITIH4_chr3_52807962_52835672 | 52832486 | CAGCATGG others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 | a0005 | a0005c0007 | a0005c0007t0005 | a0005c0007t0005g0049 | 1 | 390 | 0.0026 | -11 | c.-18 others(22): Show |
ITIH4 | ENSG00000055955.17 | transcript | ENST00000266041.9 | protein_coding | 1815 | chr3 | TogoVar | ||||||
| ITIH5_chr10_7554270_7671966 | 7566792 | AAGAAGAA others(4): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00738.hp1 others(28): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0006a0001c0032others(10): Show | a0001c0001t0001a0001c0006t0001a0001c0032t0001others(12): Show | a0001c0001t0001g0019a0001c0001t0001g0042a0001c0001t0001g0063others(28): Show | 31 | 342 | 0.0906 | -11 | c.215 others(28): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
| ITIH5_chr10_7554270_7671966 | 7613441 | TAAGGGAC others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(173): Show |
a0000a0001a0002others(21): Show | a0000c0011a0000c0013a0000c0014others(51): Show | a0000c0011t0007a0000c0013t0004a0000c0013t0038others(78): Show | a0000c0011t0007g0137a0000c0013t0004g0129a0000c0013t0038g0130others(173): Show | 176 | 342 | 0.5146 | -11 | c.939 others(28): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | ||||||
| ITIH5_chr10_7554270_7671966 | 7644623 | TCACATAT others(4): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01099.hp2 others(49): Show |
a0000a0001a0002others(8): Show | a0000c0034a0001c0006a0002c0003others(10): Show | a0000c0034t0004a0001c0006t0001a0001c0006t0048others(24): Show | a0000c0034t0004g0313a0001c0006t0001g0176a0001c0006t0001g0295others(49): Show | 52 | 342 | 0.1521 | -11 | c.136 others(28): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
| ITIH5_chr10_7554270_7671966 | 7644626 | CATATATC others(4): Show |
C | intron_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0145 | 1 | 342 | 0.0029 | -11 | c.136 others(28): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
| ITIH5_chr10_7554270_7671966 | 7644818 | TCATATAT others(4): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(12): Show |
a0000a0001a0002others(4): Show | a0000c0038a0000c0042a0001c0006others(7): Show | a0000c0038t0004a0000c0042t0033a0001c0006t0001others(8): Show | a0000c0038t0004g0276a0000c0042t0033g0275a0001c0006t0001g0106others(12): Show | 15 | 342 | 0.0439 | -11 | c.136 others(28): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
| ITIH5_chr10_7554270_7671966 | 7644902 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02027.hp1 NA18906.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0060 | a0001c0001t0001g0027a0004c0007t0060g0336 | 2 | 342 | 0.0059 | -11 | c.136 others(28): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
| ITIH5_chr10_7554270_7671966 | 7644945 | TATATATC others(4): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG02647.hp1 others(7): Show |
a0000a0002a0004others(1): Show | a0000c0011a0000c0013a0002c0003others(4): Show | a0000c0011t0007a0000c0013t0037a0002c0003t0012others(6): Show | a0000c0011t0007g0084a0000c0013t0037g0251a0002c0003t0012g0021others(7): Show | 10 | 342 | 0.0292 | -11 | c.136 others(28): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
| ITK_chr5_157175840_157260185 | 157233955 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02723.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0040 | 2 | 348 | 0.0058 | -11 | c.768 others(28): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ITM2B_chr13_48228206_48275357 | 48229672 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp2 NA18906.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0044a0001c0001t0023g0094 | 3 | 338 | 0.0089 | -11 | c.-36 others(22): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 3533 | chr13 | TogoVar | ||||||
| ITM2B_chr13_48228206_48275357 | 48245959 | TAGTAGAG others(4): Show |
T | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 338 | 0.0030 | -11 | c.118 others(28): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 1/5 | chr13 | TogoVar | ||||||
| ITPA_chr20_3204498_3228860 | 3219196 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 414 | 0.0024 | -11 | c.411 others(26): Show |
ITPA | ENSG00000125877.13 | transcript | ENST00000380113.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| ITPK1_chr14_92931914_93120925 | 93075326 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG02015.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0023a0001c0001t0039others(3): Show | a0001c0001t0007g0041a0001c0001t0023g0165a0001c0001t0039g0112others(3): Show | 6 | 243 | 0.0247 | -11 | c.120 others(28): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 3/10 | chr14 | TogoVar | ||||||
| ITPK1_chr14_92931914_93120925 | 93075351 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0153 | 1 | 243 | 0.0041 | -11 | c.120 others(28): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 3/10 | chr14 | TogoVar | ||||||
| ITPKA_chr15_41488874_41508551 | 41504743 | TGGGGAAG others(4): Show |
T | downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 426 | 0.0024 | -11 | c.*15 others(22): Show |
ITPKA | ENSG00000137825.11 | transcript | ENST00000260386.7 | protein_coding | 1193 | chr15 | TogoVar | ||||||
| ITPKB_chr1_226626690_226744282 | 226670175 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01928.hp1 HG01934.hp2 others(14): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0002a0002c0019others(2): Show | a0001c0001t0052a0002c0002t0001a0002c0002t0004others(7): Show | a0001c0001t0052g0252a0002c0002t0001g0061a0002c0002t0001g0071others(14): Show | 17 | 350 | 0.0486 | -11 | c.193 others(32): Show |
ITPKB | ENSG00000143772.11 | transcript | ENST00000429204.6 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| ITPKB_chr1_226626690_226744282 | 226711156 | TCAATTGG others(4): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02896.hp2 others(5): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0049a0003c0003t0001a0003c0003t0016others(4): Show | a0001c0001t0049g0008a0003c0003t0001g0165a0003c0003t0016g0163others(5): Show | 8 | 350 | 0.0229 | -11 | c.193 others(32): Show |
ITPKB | ENSG00000143772.11 | transcript | ENST00000429204.6 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| ITPKB_chr1_226626690_226744282 | 226740862 | TAAAAAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01358.hp2 others(13): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0005a0006c0006others(1): Show | a0001c0001t0006a0005c0005t0008a0005c0005t0028others(4): Show | a0001c0001t0006g0291a0005c0005t0008g0338a0005c0005t0008g0344others(11): Show | 16 | 350 | 0.0457 | -11 | c.-20 others(22): Show |
ITPKB | ENSG00000143772.11 | transcript | ENST00000429204.6 | protein_coding | 1581 | chr1 | TogoVar | ||||||
| ITPR1_chr3_4488348_4852506 | 4632929 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0022 | 1 | 176 | 0.0057 | -11 | c.279 others(28): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ITPR1_chr3_4488348_4852506 | 4836735 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00741.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(16): Show | a0001c0001t0002g0005a0001c0002t0001g0060a0001c0003t0001g0085others(18): Show | 21 | 176 | 0.1193 | -11 | c.802 others(26): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 60/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ITPR2_chr12_26330352_26838194 | 26391550 | CTTTTCCT others(4): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01261.hp2 HG01346.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0040others(13): Show | a0001c0001t0001g0021a0001c0001t0001g0040a0001c0001t0010g0127others(15): Show | 18 | 142 | 0.1268 | -11 | c.769 others(30): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 54/56 | chr12 | TogoVar | ||||||
| ITPR2_chr12_26330352_26838194 | 26784341 | CTCCCTCT others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0059 | a0001c0059t0002 | a0001c0059t0002g0090 | 1 | 142 | 0.0070 | -11 | c.163 others(28): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | ||||||
| ITPR3_chr6_33616322_33701562 | 33633813 | GGCGGGGC others(4): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(112): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(37): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0017others(102): Show | 115 | 342 | 0.3363 | -11 | c.90- others(26): Show |
ITPR3 | ENSG00000096433.11 | transcript | ENST00000605930.3 | protein_coding | 1/57 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ITPR3_chr6_33616322_33701562 | 33636123 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(85): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(20): Show | a0001c0001t0001g0014a0001c0001t0001g0185a0001c0002t0001g0001others(74): Show | 88 | 342 | 0.2573 | -11 | c.90- others(26): Show |
ITPR3 | ENSG00000096433.11 | transcript | ENST00000605930.3 | protein_coding | 1/57 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ITPRID1_chr7_31509090_31661504 | 31521616 | TTCCCTCC others(4): Show |
T | intron_variant | MODIFIER | HG03834.hp2 NA18969.hp1 NA18990.hp2 others(1): Show |
a0002a0003a0012 | a0002c0001a0003c0005a0003c0007others(1): Show | a0002c0001t0002a0003c0005t0003a0003c0007t0003others(1): Show | a0002c0001t0002g0197a0003c0005t0003g0192a0003c0007t0003g0198others(1): Show | 4 | 312 | 0.0128 | -11 | c.-98 others(28): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ITPRID1_chr7_31509090_31661504 | 31550657 | AACAAAAG others(4): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(51): Show |
a0002a0003a0012others(3): Show | a0002c0001a0003c0005a0003c0007others(4): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(13): Show | a0002c0001t0001g0026a0002c0001t0001g0169a0002c0001t0001g0175others(51): Show | 54 | 312 | 0.1731 | -11 | c.-24 others(28): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
| ITPRID1_chr7_31509090_31661504 | 31551691 | ATCTAGAA others(4): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(51): Show |
a0002a0003a0012others(3): Show | a0002c0001a0003c0005a0003c0007others(4): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(13): Show | a0002c0001t0001g0026a0002c0001t0001g0169a0002c0001t0001g0175others(51): Show | 54 | 312 | 0.1731 | -11 | c.-23 others(28): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
| ITPRIPL1_chr2_96320317_96333353 | 96329150 | TATATATA others(4): Show |
T | downstream_gene_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 364 | 0.0028 | -11 | c.*85 others(20): Show |
ITPRIPL1 | ENSG00000198885.10 | transcript | ENST00000439118.3 | protein_coding | 798 | chr2 | TogoVar | ||||||
| ITPRIPL2_chr16_19108964_19126629 | 19110393 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0000 | 3 | 330 | 0.0091 | -11 | c.-40 others(22): Show |
ITPRIPL2 | ENSG00000205730.7 | transcript | ENST00000381440.5 | protein_coding | 3570 | chr16 | TogoVar | ||||||
| ITPRIPL2_chr16_19108964_19126629 | 19121938 | CCCCCACA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0000 | 1 | 330 | 0.0030 | -11 | c.*58 others(22): Show |
ITPRIPL2 | ENSG00000205730.7 | transcript | ENST00000381440.5 | protein_coding | 310 | chr16 | TogoVar | ||||||
| ITSN1_chr21_33637501_33904861 | 33709046 | TGTTGTTT others(4): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0164 | 1 | 242 | 0.0041 | -11 | c.-32 others(28): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| ITSN1_chr21_33637501_33904861 | 33730388 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 242 | 0.0041 | -11 | c.186 others(28): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 4/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| ITSN1_chr21_33637501_33904861 | 33777328 | TGTCCTTT others(4): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00621.hp1 others(33): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0030others(33): Show | 36 | 242 | 0.1488 | -11 | c.159 others(30): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 14/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| ITSN1_chr21_33637501_33904861 | 33878007 | TTTGTGTG others(4): Show |
T | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 242 | 0.0041 | -11 | c.434 others(30): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 34/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| IVD_chr15_40400795_40426308 | 40422585 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0015 | 2 | 378 | 0.0053 | -11 | c.*43 others(22): Show |
IVD | ENSG00000128928.10 | transcript | ENST00000487418.8 | protein_coding | 1278 | chr15 | TogoVar | ||||||
| IYD_chr6_150364012_150410969 | 150407384 | GGTCACTC others(4): Show |
G | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0322 | 1 | 414 | 0.0024 | -11 | c.*91 others(22): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1416 | chr6 | TogoVar | ||||||
| IZUMO2_chr19_50147548_50168281 | 50163924 | GATAATTT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 394 | 0.0025 | -11 | c.-74 others(20): Show |
IZUMO2 | ENSG00000161652.13 | transcript | ENST00000293405.8 | protein_coding | 644 | chr19 | TogoVar | ||||||
| IZUMO2_chr19_50147548_50168281 | 50163929 | TTTATATA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 394 | 0.0025 | -11 | c.-74 others(20): Show |
IZUMO2 | ENSG00000161652.13 | transcript | ENST00000293405.8 | protein_coding | 649 | chr19 | TogoVar | ||||||
| IZUMO3_chr9_24537952_24550897 | 24546497 | CTTTTCTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 426 | 0.0024 | -11 | c.-85 others(20): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 601 | chr9 | TogoVar | ||||||
| JADE1_chr4_128804700_128880224 | 128872484 | ATAAGACA others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02630.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0035 | a0001c0001t0012g0049a0001c0001t0012g0050a0001c0001t0012g0051others(1): Show | 4 | 278 | 0.0144 | -11 | c.*22 others(20): Show |
JADE1 | ENSG00000077684.16 | transcript | ENST00000226319.11 | protein_coding | 11/11 | 229 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
| JADE2_chr5_134520670_134588227 | 134533736 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(143): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(35): Show | a0001c0001t0002g0005a0001c0001t0002g0230a0001c0001t0002g0232others(138): Show | 146 | 388 | 0.3763 | -11 | c.1-2 others(24): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| JADE2_chr5_134520670_134588227 | 134559765 | CTGGAGCC others(4): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 388 | 0.0026 | -11 | c.312 others(24): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| JADE2_chr5_134520670_134588227 | 134587997 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0133 | 1 | 388 | 0.0026 | -11 | c.*86 others(22): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 4771 | chr5 | TogoVar | ||||||
| JADE3_chrX_46907421_47066242 | 46926057 | ATTTTATT others(4): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 258 | 0.0039 | -11 | c.-12 others(30): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| JADE3_chrX_46907421_47066242 | 46976046 | CGAATGTT others(4): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 258 | 0.0039 | -11 | c.-11 others(28): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 1/10 | chrX | TogoVar | ||||||
| JAG1_chr20_10632684_10678999 | 10661707 | CCAGGATG others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(81): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(33): Show | a0001c0001t0001g0384a0001c0001t0003g0033a0001c0001t0003g0056others(72): Show | 84 | 412 | 0.2039 | -11 | c.439 others(28): Show |
JAG1 | ENSG00000101384.12 | transcript | ENST00000254958.10 | protein_coding | 3/25 | chr20 | TogoVar | ||||||
| JAG1_chr20_10632684_10678999 | 10669547 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp2 NA18966.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0075a0001c0003t0001g0329 | 2 | 412 | 0.0049 | -11 | c.387 others(28): Show |
JAG1 | ENSG00000101384.12 | transcript | ENST00000254958.10 | protein_coding | 2/25 | chr20 | TogoVar | ||||||
| JAG2_chr14_105135995_105173776 | 105167538 | CGCGACCC others(4): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 364 | 0.0028 | -11 | c.417 others(26): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | ||||||
| JAK1_chr1_64828229_64971549 | 64886781 | CACACACA others(4): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 326 | 0.0031 | -11 | c.-77 others(26): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar |