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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITPRID2_chr2_181886730_181935738 | 181903174 | AGCTGAAT others(8): Show |
A | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 292 | 0.0034 | -15 | c.141 others(32): Show |
ITPRID2 | ENSG00000138434.17 | transcript | ENST00000431877.7 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITPRIPL1_chr2_96320317_96333353 | 96329150 | TATATATA others(8): Show |
T | downstream_gene_variant | MODIFIER | NA19068.hp1 NA19078.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 2 | 364 | 0.0055 | -15 | c.*85 others(24): Show |
ITPRIPL1 | ENSG00000198885.10 | transcript | ENST00000439118.3 | protein_coding | 798 | chr2 | TogoVar | |||||||
ITSN1_chr21_33637501_33904861 | 33645445 | AGCTTGGG others(8): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0007 | a0001c0007t0032 | a0001c0007t0032g0227 | 1 | 242 | 0.0041 | -15 | c.-33 others(32): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITSN1_chr21_33637501_33904861 | 33681616 | TTTTTATT others(8): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01243.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0028others(2): Show | a0001c0001t0019a0001c0001t0022a0001c0002t0013others(5): Show | a0001c0001t0019g0080 a0001c0001t0022g0236 a0001c0002t0013g0064 others(6): Show |
9 | 242 | 0.0372 | -15 | c.-32 others(34): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITSN1_chr21_33637501_33904861 | 33729850 | AAGGGACT others(8): Show |
A | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 242 | 0.0041 | -15 | c.186 others(32): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 4/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITSN1_chr21_33637501_33904861 | 33778571 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0093 | 1 | 242 | 0.0041 | -15 | c.159 others(34): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 14/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITSN1_chr21_33637501_33904861 | 33860933 | CAGGGGGC others(8): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG03225.hp2 |
a0001 | a0001c0006a0001c0022 | a0001c0006t0004a0001c0022t0036 | a0001c0006t0004g0068 a0001c0022t0036g0077 |
2 | 242 | 0.0083 | -15 | c.389 others(34): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 31/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITSN2_chr2_24197864_24365536 | 24201334 | AGGTATGG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp1 others(8): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0006 | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(1): Show | a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0003g0053 others(8): Show |
11 | 224 | 0.0491 | -15 | c.*22 others(26): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 1529 | chr2 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24320525 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02559.hp1 others(18): Show |
a0003a0004a0006 | a0003c0003a0004c0004a0006c0008 | a0003c0003t0001a0004c0004t0001a0006c0008t0001 | a0003c0003t0001g0001 a0003c0003t0001g0133 a0003c0003t0001g0134 others(17): Show |
21 | 224 | 0.0938 | -15 | c.32- others(30): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 2/39 | chr2 | TogoVar | |||||||
IVD_chr15_40400795_40426308 | 40422585 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03017.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0086 |
2 | 378 | 0.0053 | -15 | c.*43 others(26): Show |
IVD | ENSG00000128928.10 | transcript | ENST00000487418.8 | protein_coding | 1278 | chr15 | TogoVar | |||||||
IWS1_chr2_127475812_127531489 | 127483571 | CGGGGCGG others(8): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01891.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0025 a0001c0004t0001g0156 a0001c0004t0001g0157 others(1): Show |
5 | 338 | 0.0148 | -15 | c.232 others(34): Show |
IWS1 | ENSG00000163166.15 | transcript | ENST00000295321.9 | protein_coding | 13/13 | chr2 | TogoVar | |||||||
IZUMO3_chr9_24537952_24550897 | 24543438 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 426 | 0.0024 | -15 | c.582 others(28): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
IZUMO3_chr9_24537952_24550897 | 24546446 | CCTTTTCT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01256.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show |
19 | 426 | 0.0446 | -15 | c.-81 others(24): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 550 | chr9 | TogoVar | |||||||
JAG1_chr20_10632684_10678999 | 10669547 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 412 | 0.0024 | -15 | c.387 others(32): Show |
JAG1 | ENSG00000101384.12 | transcript | ENST00000254958.10 | protein_coding | 2/25 | chr20 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64836794 | TCAGACTC others(8): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02922.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0002a0001c0007t0001 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(2): Show |
5 | 326 | 0.0153 | -15 | c.314 others(32): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 22/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64897506 | GGGAGGGG others(8): Show |
G | intron_variant | MODIFIER | NA19067.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0106 | 1 | 326 | 0.0031 | -15 | c.-77 others(34): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64897525 | GGAGGGAG others(8): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01361.hp2 HG02258.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(4): Show | a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0324 others(16): Show |
19 | 326 | 0.0583 | -15 | c.-77 others(34): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 5005083 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0005a0001c0003t0003a0001c0003t0005others(3): Show | a0001c0001t0005g0320 a0001c0003t0003g0296 a0001c0003t0003g0297 others(8): Show |
11 | 364 | 0.0302 | -15 | c.-25 others(34): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAK3_chr19_17819782_17852982 | 17828225 | CTTTGTTT others(8): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG02055.hp2 HG02109.hp1 others(25): Show |
a0001a0003a0007 | a0001c0001a0003c0002a0007c0031 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0114 a0001c0001t0003g0211 a0001c0001t0004g0334 others(23): Show |
28 | 414 | 0.0676 | -15 | c.320 others(34): Show |
JAK3 | ENSG00000105639.21 | transcript | ENST00000458235.7 | protein_coding | 23/23 | chr19 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6032660 | CACAAAAC others(8): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 233 | 0.0043 | -15 | c.238 others(34): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 19/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6055010 | CTGTCCCA others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01071.hp1 HG01167.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0049 a0001c0001t0001g0050 others(49): Show |
52 | 233 | 0.2232 | -15 | c.170 others(32): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 12/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6139770 | TATAAAAT others(8): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 233 | 0.0086 | -15 | c.-14 others(36): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6169965 | CACCACCA others(8): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01123.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0015 others(10): Show |
13 | 233 | 0.0558 | -15 | c.-14 others(36): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6169980 | TACCACCA others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00558.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(60): Show |
64 | 233 | 0.2747 | -15 | c.-14 others(36): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147601601 | TCAAAACA others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(209): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(86): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(208): Show |
212 | 250 | 0.8480 | -15 | c.*20 others(30): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 21/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147604800 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG03540.hp2 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0049a0001c0002t0050a0001c0002t0080 | a0001c0002t0049g0092 a0001c0002t0050g0093 a0001c0002t0080g0192 |
3 | 250 | 0.0120 | -15 | c.241 others(34): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 20/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147604829 | TATTATTA others(8): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG02572.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0033a0001c0002t0085 | a0001c0002t0011g0087 a0001c0002t0011g0099 a0001c0002t0011g0100 others(3): Show |
6 | 250 | 0.0240 | -15 | c.241 others(34): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 20/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147657193 | TGGCATGA others(8): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02572.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0031a0001c0003t0073 | a0001c0003t0001g0006 a0001c0003t0031g0097 a0001c0003t0073g0186 |
3 | 250 | 0.0120 | -15 | c.627 others(32): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132148505 | TCCGTCCT others(8): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0009 | a0009c0044 | a0009c0044t0002 | a0009c0044t0002g0031 | 1 | 158 | 0.0063 | -15 | c.184 others(32): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132158076 | CCCCCGCC others(8): Show |
C | intron_variant | MODIFIER | NA19004.hp1 | a0004 | a0004c0009 | a0004c0009t0010 | a0004c0009t0010g0055 | 1 | 158 | 0.0063 | -15 | c.222 others(34): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132164885 | GGCTGGGC others(8): Show |
G | intron_variant | MODIFIER | HG03130.hp1 NA20905.hp2 |
a0002 | a0002c0004a0002c0025 | a0002c0004t0004a0002c0025t0032 | a0002c0004t0004g0051 a0002c0025t0032g0103 |
2 | 158 | 0.0127 | -15 | c.249 others(32): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132164907 | CGGAGCTG others(8): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02135.hp2 HG03017.hp1 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0006a0002c0005a0005c0012others(2): Show | a0001c0006t0035a0002c0005t0011a0005c0012t0011others(2): Show | a0001c0006t0035g0057 a0002c0005t0011g0096 a0005c0012t0011g0002 others(2): Show |
5 | 158 | 0.0317 | -15 | c.249 others(32): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660780 | ATATTTTT others(8): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0323 | 1 | 328 | 0.0031 | -15 | c.67+ others(32): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15432449 | AAACAACA others(8): Show |
A | intron_variant | MODIFIER | HG03492.hp1 NA20905.hp2 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0067 a0001c0005t0004g0227 |
2 | 284 | 0.0070 | -15 | c.324 others(34): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27979366 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | NA18906.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0159 |
2 | 206 | 0.0097 | -15 | c.188 others(34): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28110494 | AAAGGAAA others(8): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG02040.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0181 others(12): Show |
15 | 206 | 0.0728 | -15 | c.115 others(34): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JDP2_chr14_75423022_75479107 | 75430466 | AATGGAGT others(8): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0022a0001c0007t0061 | a0001c0001t0022g0126 a0001c0001t0022g0127 a0001c0007t0061g0128 |
3 | 358 | 0.0084 | -15 | c.-24 others(32): Show |
JDP2 | ENSG00000140044.13 | transcript | ENST00000651602.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
JHY_chr11_122877759_122968862 | 122911905 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0004g0009 others(3): Show |
6 | 332 | 0.0181 | -15 | c.864 others(32): Show |
JHY | ENSG00000109944.11 | transcript | ENST00000227349.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63263952 | ATACACAT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0131 | 1 | 310 | 0.0032 | -15 | c.447 others(30): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337550 | CAAGAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03017.hp1 HG03491.hp1 NA18972.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0102 others(1): Show |
4 | 310 | 0.0129 | -15 | c.333 others(34): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD7_chr15_41823092_41842581 | 41840269 | GGAGGAGG others(8): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp1 | a0009 | a0009c0013 | a0009c0013t0002 | a0009c0013t0002g0023 | 1 | 386 | 0.0026 | -15 | c.*31 others(26): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 2689 | chr15 | TogoVar | |||||||
JOSD1_chr22_38680543_38705943 | 38704279 | TTTTTTTG others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG02559.hp1 HG02615.hp1 others(8): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0006a0001c0002t0002a0001c0002t0025others(2): Show | a0001c0001t0006g0051 a0001c0001t0006g0165 a0001c0002t0002g0011 others(8): Show |
11 | 376 | 0.0293 | -15 | c.-41 others(26): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 3337 | chr22 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134091 | TATATATT others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01071.hp1 others(33): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(14): Show | a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0005g0301 others(33): Show |
36 | 338 | 0.1065 | -15 | c.117 others(36): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPT1_chr17_75130248_75159512 | 75137685 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(101): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(63): Show |
104 | 388 | 0.2680 | -15 | c.317 others(32): Show |
JPT1 | ENSG00000189159.16 | transcript | ENST00000409753.8 | protein_coding | 4/4 | chr17 | TogoVar | |||||||
JRK_chr8_142652460_142674967 | 142669196 | GTGTGCGT others(8): Show |
G | intron_variant | MODIFIER | NA18984.hp1 | a0018 | a0018c0016 | a0018c0016t0003 | a0018c0016t0003g0068 | 1 | 466 | 0.0022 | -15 | c.-46 others(32): Show |
JRK | ENSG00000234616.9 | transcript | ENST00000612905.2 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18276307 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(143): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0010a0002c0002others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(21): Show | a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 others(21): Show |
146 | 408 | 0.3578 | -15 | c.*41 others(26): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 3386 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284216 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18612.hp2 NA18974.hp2 NA18984.hp1 |
a0001a0013 | a0001c0001a0013c0009 | a0001c0001t0002a0013c0009t0002 | a0001c0001t0002g0000 a0013c0009t0002g0000 |
3 | 408 | 0.0074 | -15 | c.-27 others(26): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2595 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284520 | AAATAATA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00597.hp1 HG02109.hp2 HG02155.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0012others(3): Show | a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0012g0000 others(3): Show |
12 | 408 | 0.0294 | -15 | c.-30 others(26): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124044889 | CCTTCCTT others(8): Show |
C | intron_variant | MODIFIER | HG02559.hp1 NA18983.hp1 NA19240.hp2 |
a0001a0006 | a0001c0067a0001c0069a0006c0078 | a0001c0067t0001a0001c0069t0013a0006c0078t0001 | a0001c0067t0001g0055 a0001c0069t0013g0063 a0006c0078t0001g0061 |
3 | 116 | 0.0259 | -15 | c.73+ others(32): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124170831 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01071.hp1 others(16): Show |
a0001a0004a0009 | a0001c0001a0001c0002a0001c0014others(13): Show | a0001c0001t0003a0001c0002t0017a0001c0002t0024others(14): Show | a0001c0001t0003g0112 a0001c0002t0017g0053 a0001c0002t0024g0006 others(16): Show |
19 | 116 | 0.1638 | -15 | c.74- others(32): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |