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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IRF7_chr11_607555_620950 | 613610 | AGCTGTGA others(23): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0020a0001c0001t0007g0029 | 3 | 407 | 0.0074 | -30 | c.848 others(43): Show |
IRF7 | ENSG00000185507.21 | transcript | ENST00000525445.6 | protein_coding | 8/10 | chr11 | TogoVar | ||||||
IRF7_chr11_607555_620950 | 613642 | CTGTGAGT others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(106): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(4): Show | a0001c0001t0001g0008a0002c0002t0001g0004a0002c0002t0001g0005others(12): Show | 109 | 407 | 0.2678 | -30 | c.848 others(43): Show |
IRF7 | ENSG00000185507.21 | transcript | ENST00000525445.6 | protein_coding | 8/10 | chr11 | TogoVar | ||||||
IRF7_chr11_607555_620950 | 613712 | TGGGTGGG others(23): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00558.hp1 others(49): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0016a0001c0003t0001g0003a0001c0003t0001g0050others(1): Show | 52 | 407 | 0.1278 | -30 | c.847 others(43): Show |
IRF7 | ENSG00000185507.21 | transcript | ENST00000525445.6 | protein_coding | 8/10 | chr11 | TogoVar | ||||||
ISM1_chr20_13216274_13305651 | 13268347 | CCTCTCTC others(23): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01192.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0076a0001c0001t0001g0157a0001c0001t0001g0162others(15): Show | 18 | 396 | 0.0455 | -30 | c.139 others(47): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ITGA11_chr15_68291532_68437163 | 68302055 | AGTGTGTG others(23): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG00738.hp2 others(42): Show |
a0002a0003a0004others(6): Show | a0002c0008a0002c0011a0002c0016others(22): Show | a0002c0008t0001a0002c0008t0008a0002c0008t0010others(34): Show | a0002c0008t0001g0072a0002c0008t0001g0143a0002c0008t0001g0158others(42): Show | 45 | 242 | 0.1860 | -30 | c.*97 others(40): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 30/30 | 974 | chr15 | TogoVar | |||||
ITGA2B_chr17_44367181_44394649 | 44368126 | ATATATAT others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG02965.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0075a0002c0002t0001g0091others(1): Show | 4 | 354 | 0.0113 | -30 | c.*42 others(41): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4054 | chr17 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44368128 | ATATATAT others(23): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp2 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0164 | 2 | 354 | 0.0057 | -30 | c.*42 others(41): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4052 | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50073593 | AACACACA others(23): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01496.hp2 others(10): Show |
a0001a0011 | a0001c0004a0011c0020 | a0001c0004t0001a0001c0004t0022a0001c0004t0029others(1): Show | a0001c0004t0001g0008a0001c0004t0001g0023a0001c0004t0001g0025others(9): Show | 13 | 402 | 0.0323 | -30 | c.115 others(47): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ITGA4_chr2_181452386_181543940 | 181538126 | CCACATTT others(23): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG00621.hp1 NA19003.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0018a0002c0003t0026 | a0002c0003t0018g0091a0002c0003t0018g0147a0002c0003t0018g0325others(1): Show | 4 | 368 | 0.0109 | -30 | c.*26 others(41): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 28/28 | 2600 | chr2 | TogoVar | |||||
ITGA8_chr10_15508954_15724922 | 15561209 | CTATATAT others(23): Show |
C | intron_variant | MODIFIER | HG02129.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0091a0001c0001t0014g0019 | 2 | 220 | 0.0091 | -30 | c.263 others(49): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 25/29 | chr10 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15644433 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0013 | a0013c0022 | a0013c0022t0005 | a0013c0022t0005g0129 | 1 | 220 | 0.0046 | -30 | c.120 others(47): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 12/29 | chr10 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15644463 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02970.hp2 NA18906.hp2 |
a0003a0012 | a0003c0003a0012c0017 | a0003c0003t0023a0012c0017t0008 | a0003c0003t0023g0041a0012c0017t0008g0050 | 2 | 220 | 0.0091 | -30 | c.120 others(47): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 12/29 | chr10 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37530717 | GTTTTTTT others(23): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp2 HG01169.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0003g0035others(27): Show | 30 | 168 | 0.1786 | -30 | c.137 others(49): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31256985 | CATATATA others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0007t0004 | a0001c0001t0004g0147a0001c0007t0004g0143a0001c0007t0004g0144others(3): Show | 6 | 244 | 0.0246 | -30 | c.-30 others(41): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 2989 | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31270137 | GCTTTCCT others(23): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0110 | 1 | 244 | 0.0041 | -30 | c.428 others(45): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31270699 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG01891.hp2 NA18906.hp2 |
a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0140a0001c0008t0004g0141 | 2 | 244 | 0.0082 | -30 | c.428 others(45): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31272443 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02818.hp1 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0006 | a0003c0004t0005g0025a0003c0004t0005g0027a0003c0004t0005g0077others(3): Show | 6 | 244 | 0.0246 | -30 | c.704 others(45): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31272445 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG02897.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0036a0003c0004t0005g0047a0003c0004t0005g0051others(4): Show | 7 | 244 | 0.0287 | -30 | c.704 others(45): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31272447 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02257.hp2 |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0078a0003c0004t0005g0086 | 2 | 244 | 0.0082 | -30 | c.704 others(45): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101544805 | GCTGTGCT others(23): Show |
G | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 306 | 0.0033 | -30 | c.317 others(49): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7749412 | ATAATTAA others(23): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0287 | 1 | 380 | 0.0026 | -30 | c.*11 others(39): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 21/21 | 110 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ITIH5_chr10_7554270_7671966 | 7566790 | AGAAGAAG others(23): Show |
A | intron_variant | MODIFIER | HG04204.hp2 NA18993.hp1 NA19080.hp2 |
a0003a0004 | a0003c0002a0003c0005a0004c0008 | a0003c0002t0009a0003c0005t0005a0004c0008t0009 | a0003c0002t0009g0198a0003c0005t0005g0128a0004c0008t0009g0233 | 3 | 342 | 0.0088 | -30 | c.215 others(47): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566826 | GGAAGAGG others(23): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG03540.hp2 HG03831.hp1 others(3): Show |
a0000a0001a0002others(1): Show | a0000c0013a0001c0001a0002c0017others(1): Show | a0000c0013t0004a0001c0001t0001a0002c0017t0008others(1): Show | a0000c0013t0004g0129a0001c0001t0001g0079a0001c0001t0001g0080others(3): Show | 6 | 342 | 0.0175 | -30 | c.215 others(47): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566832 | GGAAGAGG others(23): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00741.hp1 HG01074.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0061others(4): Show | a0001c0001t0001a0001c0006t0048a0001c0061t0045others(4): Show | a0001c0001t0001g0033a0001c0001t0001g0090a0001c0001t0001g0093others(12): Show | 15 | 342 | 0.0439 | -30 | c.215 others(47): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26461621 | CATATAAA others(23): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0085 | 1 | 142 | 0.0070 | -30 | c.634 others(51): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 45/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26567978 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0020 | a0001c0020t0032 | a0001c0020t0032g0062 | 1 | 142 | 0.0070 | -30 | c.463 others(49): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26784289 | CCCTCTCC others(23): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG02922.hp1 HG03209.hp1 |
a0001a0002 | a0001c0008a0001c0034a0002c0010 | a0001c0008t0002a0001c0034t0004a0002c0010t0012 | a0001c0008t0002g0097a0001c0034t0004g0050a0002c0010t0012g0013 | 3 | 142 | 0.0211 | -30 | c.163 others(47): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26831759 | TATAAATA others(23): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0010a0001c0002t0046a0001c0004t0010others(17): Show | a0001c0001t0010g0127a0001c0002t0046g0123a0001c0004t0010g0118others(18): Show | 21 | 142 | 0.1479 | -30 | c.92+ others(43): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 1/56 | chr12 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31599637 | CTTTCTTT others(23): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0018 | a0018c0049 | a0018c0049t0011 | a0018c0049t0011g0030 | 1 | 312 | 0.0032 | -30 | c.122 others(51): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | chr7 | TogoVar | ||||||
ITPRIP_chr10_104304700_104343465 | 104306046 | TGTGTGTG others(23): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01243.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0037 | a0001c0001t0006g0029a0001c0001t0037g0063 | 2 | 324 | 0.0062 | -30 | c.*83 others(41): Show |
ITPRIP | ENSG00000148841.17 | transcript | ENST00000337478.3 | protein_coding | 3653 | chr10 | TogoVar | ||||||
ITSN1_chr21_33637501_33904861 | 33690785 | ATATACAT others(23): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02040.hp1 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0004a0001c0002t0013others(2): Show | a0001c0001t0002g0011a0001c0001t0002g0120a0001c0002t0004g0082others(3): Show | 6 | 242 | 0.0248 | -30 | c.-32 others(49): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ITSN1_chr21_33637501_33904861 | 33876121 | CTTTCTTT others(23): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00741.hp1 others(71): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(57): Show | a0001c0001t0002g0120a0001c0001t0003g0072a0001c0001t0006g0196others(71): Show | 74 | 242 | 0.3058 | -30 | c.434 others(47): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 34/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
IVL_chr1_152903546_152916886 | 152910295 | AGAGCAGC others(23): Show |
A | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG01257.hp1 |
a0021 | a0021c0023 | a0021c0023t0001 | a0021c0023t0001g0001 | 2 | 426 | 0.0047 | -30 | c.513 others(37): Show |
p.Gln others(13): Show |
IVL | ENSG00000163207.7 | transcript | ENST00000368764.4 | protein_coding | 2/2 | 576/2152 | 513/1758 | 171/585 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
IVL_chr1_152903546_152916886 | 152910325 | GGAGCAGC others(23): Show |
G | conservative_inframe_deletion | MODERATE | HG01928.hp1 HG01934.hp1 HG01978.hp1 others(5): Show |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0001 | 8 | 426 | 0.0188 | -30 | c.679 others(37): Show |
p.Glu others(13): Show |
IVL | ENSG00000163207.7 | transcript | ENST00000368764.4 | protein_coding | 2/2 | 742/2152 | 679/1758 | 227/585 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
IVL_chr1_152903546_152916886 | 152910476 | GAGCAGCA others(23): Show |
G | conservative_inframe_deletion | MODERATE | HG02970.hp1 HG03041.hp1 HG03139.hp2 |
a0020a0034 | a0020c0025a0034c0035 | a0020c0025t0002a0034c0035t0002 | a0020c0025t0002g0006a0034c0035t0002g0003 | 3 | 426 | 0.0070 | -30 | c.706 others(37): Show |
p.Pro others(13): Show |
IVL | ENSG00000163207.7 | transcript | ENST00000368764.4 | protein_coding | 2/2 | 769/2152 | 706/1758 | 236/585 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
IVL_chr1_152903546_152916886 | 152910506 | CAGCAGCA others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG00408.hp2 | a0038 | a0038c0028 | a0038c0028t0001 | a0038c0028t0001g0001 | 1 | 426 | 0.0024 | -30 | c.753 others(37): Show |
p.Gln others(13): Show |
IVL | ENSG00000163207.7 | transcript | ENST00000368764.4 | protein_coding | 2/2 | 816/2152 | 753/1758 | 251/585 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
JAK1_chr1_64828229_64971549 | 64878561 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00639.hp2 others(115): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0027a0001c0001t0001g0040others(115): Show | 118 | 326 | 0.3620 | -30 | c.329 others(45): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 4/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64897525 | GGAGGGAG others(23): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02818.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0188a0001c0001t0002g0103a0001c0001t0002g0189others(9): Show | 12 | 326 | 0.0368 | -30 | c.-77 others(49): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6068879 | TTTTATAA others(23): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 233 | 0.0043 | -30 | c.130 others(49): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6098709 | AAAGAAAG others(23): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01255.hp2 HG02109.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0141a0001c0001t0002g0225a0001c0002t0001g0057others(1): Show | 4 | 233 | 0.0172 | -30 | c.624 others(47): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147690539 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG03579.hp1 NA18962.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0013a0001c0002t0058others(1): Show | a0001c0001t0002g0010a0001c0001t0013g0177a0001c0002t0058g0090others(1): Show | 4 | 250 | 0.0160 | -30 | c.-14 others(51): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132158910 | TGTGGGAG others(23): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG03540.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0006a0002c0016t0006 | a0001c0001t0006g0006a0002c0016t0006g0052a0002c0016t0006g0099 | 3 | 158 | 0.0190 | -30 | c.222 others(49): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132180638 | CGTGTGTG others(23): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0083 | 1 | 158 | 0.0063 | -30 | c.*11 others(51): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132187339 | CGGCCCTG others(23): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01167.hp1 HG01175.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0002c0008others(1): Show | a0001c0001t0004a0001c0001t0038a0002c0004t0004others(2): Show | a0001c0001t0004g0127a0001c0001t0038g0014a0002c0004t0004g0042others(4): Show | 7 | 158 | 0.0443 | -30 | c.*60 others(41): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2482 | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132187354 | CTGCCGGG others(23): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp2 HG03471.hp2 |
a0001a0004 | a0001c0048a0004c0014 | a0001c0048t0013a0004c0014t0013 | a0001c0048t0013g0098a0004c0014t0013g0147 | 2 | 158 | 0.0127 | -30 | c.*61 others(41): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2497 | chr10 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15404519 | GCACACAC others(23): Show |
G | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0215 | 1 | 284 | 0.0035 | -30 | c.182 others(47): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JAZF1_chr7_27825577_28185795 | 28170337 | ATGTGTGT others(23): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01256.hp1 HG02027.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182a0001c0001t0001g0183a0001c0001t0001g0184others(12): Show | 15 | 206 | 0.0728 | -30 | c.115 others(49): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63337550 | CAAGAAAA others(23): Show |
C | intron_variant | MODIFIER | HG02074.hp2 HG03669.hp1 HG04184.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0043a0001c0001t0001g0052others(7): Show | 10 | 310 | 0.0323 | -30 | c.333 others(49): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124110315 | GTCATACT others(23): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG01515.hp2 HG01517.hp1 others(1): Show |
a0001a0004 | a0001c0004a0001c0037a0004c0013 | a0001c0004t0030a0001c0037t0005a0004c0013t0002 | a0001c0004t0030g0052a0001c0037t0005g0059a0004c0013t0002g0001others(1): Show | 4 | 116 | 0.0345 | -30 | c.73+ others(47): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124287770 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | HG02071.hp1 HG02165.hp2 NA18906.hp1 |
a0001 | a0001c0006a0001c0008a0001c0063 | a0001c0006t0001a0001c0008t0002a0001c0063t0003 | a0001c0006t0001g0069a0001c0008t0002g0071a0001c0063t0003g0088 | 3 | 116 | 0.0259 | -30 | c.970 others(49): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 5/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |