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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITPR2_chr12_26330352_26838194 | 26784357 | C | CTCCGCGG | intron_variant | MODIFIER | HG01361.hp2 HG01496.hp2 HG02735.hp1 others(1): Show |
a0001 | a0001c0021a0001c0028a0001c0062 | a0001c0021t0002a0001c0028t0001a0001c0028t0010others(1): Show | a0001c0021t0002g0043a0001c0028t0001g0010a0001c0028t0010g0125others(1): Show | 4 | 142 | 0.0282 | 7 | c.163 others(24): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | ||||||
ITPR3_chr6_33616322_33701562 | 33661992 | G | GAAAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02886.hp2 others(5): Show |
a0001a0002 | a0001c0033a0001c0085a0002c0006others(1): Show | a0001c0033t0001a0001c0085t0001a0002c0006t0002others(1): Show | a0001c0033t0001g0061a0001c0033t0001g0100a0001c0085t0001g0192others(5): Show | 8 | 342 | 0.0234 | 7 | c.712 others(22): Show |
ITPR3 | ENSG00000096433.11 | transcript | ENST00000605930.3 | protein_coding | 7/57 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ITPRID1_chr7_31509090_31661504 | 31627659 | C | CAAAAAAA | intron_variant | MODIFIER | HG01993.hp1 HG02129.hp1 HG02132.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0002c0001others(5): Show | a0001c0002t0002a0001c0003t0007a0002c0001t0002others(7): Show | a0001c0002t0002g0093a0001c0002t0002g0111a0001c0002t0002g0122others(16): Show | 19 | 312 | 0.0609 | 7 | c.122 others(28): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ITSN1_chr21_33637501_33904861 | 33680323 | C | CTTTTCTT | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01952.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0028others(2): Show | a0001c0001t0019a0001c0002t0015a0001c0028t0059others(3): Show | a0001c0001t0019g0080a0001c0002t0015g0081a0001c0028t0059g0152others(4): Show | 7 | 242 | 0.0289 | 7 | c.-33 others(26): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ITSN1_chr21_33637501_33904861 | 33753761 | T | TAAAAAAA | intron_variant | MODIFIER | HG01358.hp1 HG01891.hp1 HG02273.hp1 others(3): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0043a0001c0003t0004others(2): Show | a0001c0001t0003g0072a0001c0001t0003g0160a0001c0002t0043g0060others(3): Show | 6 | 242 | 0.0248 | 7 | c.624 others(24): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 7/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ITSN1_chr21_33637501_33904861 | 33876102 | C | CTCTTTCT | intron_variant | MODIFIER | HG01192.hp1 HG02735.hp1 HG03017.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0002a0001c0001t0003a0001c0002t0004others(2): Show | a0001c0001t0002g0135a0001c0001t0003g0049a0001c0001t0003g0098others(7): Show | 10 | 242 | 0.0413 | 7 | c.434 others(24): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 34/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
IYD_chr6_150364012_150410969 | 150367990 | T | TTTCTTTC | upstream_gene_variant | MODIFIER | HG00280.hp2 HG03017.hp2 NA18964.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0269a0001c0001t0002g0135others(2): Show | 5 | 414 | 0.0121 | 7 | c.-10 others(18): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1021 | chr6 | TogoVar | ||||||
IZUMO2_chr19_50147548_50168281 | 50150827 | C | CAAAAAAT | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02630.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0030a0001c0001t0001g0033others(6): Show | 12 | 394 | 0.0305 | 7 | c.*17 others(18): Show |
IZUMO2 | ENSG00000161652.13 | transcript | ENST00000293405.8 | protein_coding | 1720 | chr19 | TogoVar | ||||||
JADE2_chr5_134520670_134588227 | 134531883 | C | CTTTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG01515.hp1 HG01934.hp2 others(11): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(6): Show | a0001c0001t0002g0230a0001c0001t0002g0350a0001c0001t0008g0304others(11): Show | 14 | 388 | 0.0361 | 7 | c.1-3 others(20): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JADE2_chr5_134520670_134588227 | 134587504 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02055.hp1 others(8): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(2): Show | a0001c0001t0001g0100a0001c0001t0001g0115a0001c0001t0001g0134others(8): Show | 11 | 388 | 0.0284 | 7 | c.*81 others(18): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 4278 | chr5 | TogoVar | ||||||
JADE3_chrX_46907421_47066242 | 46951585 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0122a0001c0001t0010g0123 | 2 | 258 | 0.0078 | 7 | c.-11 others(26): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
JADE3_chrX_46907421_47066242 | 46957261 | A | ATAGATAT | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 258 | 0.0039 | 7 | c.-11 others(26): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 1/10 | chrX | TogoVar | ||||||
JADE3_chrX_46907421_47066242 | 46991071 | T | TCCCCCCC | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0215 | 1 | 258 | 0.0039 | 7 | c.126 others(24): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
JAG1_chr20_10632684_10678999 | 10669547 | C | CAAAAAAA | intron_variant | MODIFIER | HG02602.hp1 HG03195.hp2 HG03453.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0004a0001c0008t0001others(2): Show | a0001c0001t0001g0385a0001c0001t0001g0388a0001c0002t0004g0387others(3): Show | 6 | 412 | 0.0146 | 7 | c.387 others(24): Show |
JAG1 | ENSG00000101384.12 | transcript | ENST00000254958.10 | protein_coding | 2/25 | chr20 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64833091 | G | GTGTTGTT | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01168.hp1 HG01261.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0027a0001c0001t0001g0046a0001c0001t0001g0112others(11): Show | 14 | 326 | 0.0429 | 7 | c.*14 others(18): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 137 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64897509 | A | AGGAGGAG | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp1 HG01952.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0084a0001c0001t0001g0086a0001c0001t0001g0112others(25): Show | 28 | 326 | 0.0859 | 7 | c.-77 others(26): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64928778 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00621.hp2 others(48): Show |
a0000a0001 | a0000c0011a0001c0001a0001c0002others(6): Show | a0000c0011t0010a0001c0001t0001a0001c0001t0007others(8): Show | a0000c0011t0010g0025a0001c0001t0001g0027a0001c0001t0001g0040others(48): Show | 51 | 326 | 0.1564 | 7 | c.-78 others(26): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64928787 | A | AAAAAAAC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00597.hp2 others(86): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0114others(86): Show | 89 | 326 | 0.2730 | 7 | c.-78 others(26): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64970134 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00738.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(8): Show | a0001c0001t0001g0027a0001c0001t0001g0064a0001c0001t0001g0085others(54): Show | 57 | 326 | 0.1749 | 7 | c.-38 others(18): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 3586 | chr1 | TogoVar | ||||||
JAK2_chr9_4980272_5134948 | 5057635 | C | CACAATGG | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01884.hp2 others(13): Show |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0031a0001c0004t0052others(1): Show | a0001c0004t0006g0006a0001c0004t0006g0036a0001c0004t0006g0037others(13): Show | 16 | 364 | 0.0440 | 7 | c.105 others(26): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
JAK3_chr19_17819782_17852982 | 17827813 | A | AATTGCTT | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(29): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0003g0186a0001c0001t0004g0351a0001c0001t0005g0275others(24): Show | 32 | 414 | 0.0773 | 7 | c.320 others(24): Show |
JAK3 | ENSG00000105639.21 | transcript | ENST00000458235.7 | protein_coding | 23/23 | chr19 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6102722 | C | CTTTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0064a0001c0001t0001g0077others(5): Show | 8 | 233 | 0.0343 | 7 | c.624 others(24): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6169603 | T | TGTGTGTG | intron_variant | MODIFIER | HG01516.hp2 HG02280.hp1 HG02698.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0002 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0049others(7): Show | 10 | 233 | 0.0429 | 7 | c.-14 others(28): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132149722 | C | CTACCCCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0013a0001c0017others(16): Show | a0001c0006t0025a0001c0013t0001a0001c0013t0016others(30): Show | a0001c0006t0025g0153a0001c0013t0001g0094a0001c0013t0001g0129others(53): Show | 56 | 158 | 0.3544 | 7 | c.194 others(24): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 15/23 | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132167836 | G | GCCCTCGC | intron_variant | MODIFIER | NA18944.hp1 NA18966.hp1 NA19088.hp1 |
a0003 | a0003c0020 | a0003c0020t0003 | a0003c0020t0003g0068a0003c0020t0003g0069a0003c0020t0003g0070 | 3 | 158 | 0.0190 | 7 | c.*23 others(21): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132167857 | C | CCTCTCGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(87): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0013others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(50): Show | a0001c0001t0001g0116a0001c0001t0002g0007a0001c0001t0002g0027others(87): Show | 90 | 158 | 0.5696 | 7 | c.*23 others(20): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp2 others(56): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0013others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(38): Show | a0001c0001t0001g0116a0001c0001t0003g0097a0001c0001t0006g0006others(56): Show | 59 | 158 | 0.3734 | 7 | c.*11 others(28): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0188a0001c0001t0002g0301a0001c0001t0002g0302others(7): Show | 10 | 328 | 0.0305 | 7 | c.67+ others(24): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JAM2_chr21_25634258_25722562 | 25660783 | T | TATATATA | intron_variant | MODIFIER | HG00438.hp2 HG02683.hp2 HG03688.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0181a0001c0002t0003g0150a0001c0002t0003g0162others(5): Show | 8 | 328 | 0.0244 | 7 | c.67+ others(24): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | chr21 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15242344 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp2 others(88): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(34): Show | a0001c0001t0001g0051a0001c0001t0001g0109a0001c0001t0001g0113others(88): Show | 91 | 284 | 0.3204 | 7 | c.-41 others(18): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3724 | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15278585 | C | CAAAAAAT | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00621.hp2 others(19): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0011a0001c0002t0001others(7): Show | a0001c0001t0002g0002a0001c0001t0002g0245a0001c0001t0002g0246others(19): Show | 22 | 284 | 0.0775 | 7 | c.45+ others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15456878 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG01071.hp1 HG02080.hp2 others(11): Show |
a0001a0006 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0026a0001c0003t0001others(9): Show | a0001c0002t0001g0003a0001c0002t0001g0056a0001c0002t0026g0185others(11): Show | 14 | 284 | 0.0493 | 7 | c.493 others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15469353 | C | CCTCCCCT | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00621.hp2 others(43): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0027others(17): Show | a0001c0001t0002g0002a0001c0001t0002g0107a0001c0001t0002g0245others(43): Show | 46 | 284 | 0.1620 | 7 | c.670 others(22): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15473514 | G | GCCCCCCC | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG02004.hp2 others(14): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0134a0001c0001t0001g0237a0001c0001t0002g0039others(14): Show | 17 | 284 | 0.0599 | 7 | c.670 others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15494413 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00621.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(21): Show | a0001c0001t0001g0020a0001c0001t0001g0237a0001c0001t0002g0142others(54): Show | 57 | 284 | 0.2007 | 7 | c.907 others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15497650 | C | CAAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01256.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0002t0004a0001c0002t0006others(7): Show | a0001c0001t0002g0107a0001c0001t0002g0148a0001c0001t0002g0149others(24): Show | 27 | 284 | 0.0951 | 7 | c.194 others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JAZF1_chr7_27825577_28185795 | 28035313 | C | CAAAAAAA | intron_variant | MODIFIER | HG01515.hp2 HG01975.hp1 HG02273.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0078a0001c0001t0001g0081a0001c0001t0001g0083others(8): Show | 11 | 206 | 0.0534 | 7 | c.116 others(26): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28121186 | G | GAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(167): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0075others(167): Show | 170 | 206 | 0.8252 | 7 | c.115 others(26): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28180106 | C | CCGCCCCG | intron_variant | MODIFIER | HG01192.hp1 HG01934.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006 | 3 | 206 | 0.0146 | 7 | c.115 others(22): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JCHAIN_chr4_70650541_70671508 | 70659549 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01496.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0011a0001c0001t0001g0066a0001c0001t0001g0111others(1): Show | 8 | 366 | 0.0219 | 7 | c.189 others(24): Show |
JCHAIN | ENSG00000132465.12 | transcript | ENST00000254801.9 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
JDP2_chr14_75423022_75479107 | 75433195 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0021a0001c0001t0001g0056a0001c0001t0001g0059others(12): Show | 22 | 358 | 0.0615 | 7 | c.-23 others(24): Show |
JDP2 | ENSG00000140044.13 | transcript | ENST00000651602.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
JMJD1C_chr10_63162225_63470977 | 63234493 | T | TAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG02015.hp1 HG02071.hp2 others(7): Show |
a0003a0005a0008others(1): Show | a0003c0003a0005c0005a0008c0009others(1): Show | a0003c0003t0001a0005c0005t0001a0008c0009t0001others(1): Show | a0003c0003t0001g0167a0003c0003t0001g0174a0003c0003t0001g0188others(7): Show | 10 | 310 | 0.0323 | 7 | c.448 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63238189 | A | AAAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp1 others(45): Show |
a0001a0003a0008others(3): Show | a0001c0008a0001c0031a0003c0003others(4): Show | a0001c0008t0001a0001c0031t0001a0003c0003t0001others(4): Show | a0001c0008t0001g0299a0001c0008t0001g0300a0001c0008t0001g0301others(45): Show | 48 | 310 | 0.1548 | 7 | c.448 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63238189 | A | AAAAATAG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01074.hp1 others(22): Show |
a0004a0012a0013others(3): Show | a0004c0004a0004c0022a0012c0013others(4): Show | a0004c0004t0002a0004c0022t0002a0012c0013t0002others(4): Show | a0004c0004t0002g0004a0004c0004t0002g0006a0004c0004t0002g0008others(22): Show | 25 | 310 | 0.0807 | 7 | c.448 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63245478 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01081.hp1 others(16): Show |
a0001a0004a0008others(3): Show | a0001c0001a0001c0010a0001c0016others(6): Show | a0001c0001t0001a0001c0010t0001a0001c0016t0001others(6): Show | a0001c0001t0001g0153a0001c0010t0001g0306a0001c0016t0001g0031others(16): Show | 19 | 310 | 0.0613 | 7 | c.447 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63247719 | C | CAAAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG03831.hp2 NA18985.hp2 others(6): Show |
a0003a0008 | a0003c0003a0008c0009 | a0003c0003t0001a0008c0009t0001 | a0003c0003t0001g0169a0003c0003t0001g0170a0003c0003t0001g0171others(6): Show | 9 | 310 | 0.0290 | 7 | c.447 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63276884 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(107): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0010a0001c0032others(19): Show | a0001c0001t0001a0001c0010t0001a0001c0032t0001others(19): Show | a0001c0001t0001g0116a0001c0001t0001g0125a0001c0001t0001g0126others(107): Show | 110 | 310 | 0.3548 | 7 | c.334 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63277731 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG02559.hp2 others(5): Show |
a0001a0005a0007 | a0001c0008a0005c0005a0007c0006 | a0001c0008t0001a0005c0005t0001a0007c0006t0001 | a0001c0008t0001g0300a0005c0005t0001g0120a0005c0005t0001g0121others(5): Show | 8 | 310 | 0.0258 | 7 | c.334 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63305461 | T | TCTCTCTC | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp2 HG03041.hp1 |
a0001a0015 | a0001c0010a0015c0034 | a0001c0010t0001a0015c0034t0001 | a0001c0010t0001g0307a0001c0010t0001g0308a0015c0034t0001g0304 | 3 | 310 | 0.0097 | 7 | c.334 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63337613 | G | GAAAAAGA | intron_variant | MODIFIER | HG00639.hp1 HG03942.hp2 NA18906.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0153a0005c0005t0001g0120a0005c0005t0001g0149 | 3 | 310 | 0.0097 | 7 | c.333 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar |