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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAK1_chr1_64828229_64971549 | 64897526 | GAGGGAGG others(4): Show |
G | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0034 | 1 | 326 | 0.0031 | -11 | c.-77 others(30): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK2_chr9_4980272_5134948 | 5042124 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01496.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095a0001c0002t0001g0144 | 2 | 364 | 0.0055 | -11 | c.351 others(28): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
JAK2_chr9_4980272_5134948 | 5103221 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0008 | 1 | 364 | 0.0028 | -11 | c.305 others(32): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
JAK3_chr19_17819782_17852982 | 17827717 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02602.hp2 HG03239.hp1 HG03239.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0008a0001c0008t0029 | a0001c0001t0002g0069a0001c0001t0002g0071a0001c0001t0008g0260others(3): Show | 6 | 414 | 0.0145 | -11 | c.320 others(28): Show |
JAK3 | ENSG00000105639.21 | transcript | ENST00000458235.7 | protein_coding | 23/23 | chr19 | TogoVar | ||||||
JAK3_chr19_17819782_17852982 | 17829243 | AAACCTTC others(4): Show |
A | intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0018 | a0002c0018t0007 | a0002c0018t0007g0095 | 1 | 414 | 0.0024 | -11 | c.320 others(28): Show |
JAK3 | ENSG00000105639.21 | transcript | ENST00000458235.7 | protein_coding | 23/23 | chr19 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6098479 | AAGAAAGA others(4): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 233 | 0.0043 | -11 | c.624 others(28): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147641411 | GAATATGA others(4): Show |
G | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0179 | 1 | 250 | 0.0040 | -11 | c.128 others(28): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 8/21 | chr5 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147644731 | ATAAGGAA others(4): Show |
A | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0179 | 1 | 250 | 0.0040 | -11 | c.108 others(28): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 6/21 | chr5 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147694860 | GTCTGTTG others(4): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0018 | a0001c0018t0015 | a0001c0018t0015g0187 | 1 | 250 | 0.0040 | -11 | c.-14 others(32): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147723026 | TTTAACCA others(4): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01106.hp1 others(20): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0029a0001c0001t0037others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0012others(20): Show | 23 | 250 | 0.0920 | -11 | c.-14 others(32): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132080503 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0013others(11): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0002g0132a0001c0001t0004g0127a0001c0001t0005g0137others(19): Show | 22 | 158 | 0.1392 | -11 | c.-13 others(32): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132108341 | CTCCCAGC others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00639.hp1 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0015a0001c0034a0001c0040others(9): Show | a0001c0015t0001a0001c0015t0002a0001c0015t0005others(13): Show | a0001c0015t0001g0030a0001c0015t0002g0018a0001c0015t0005g0140others(20): Show | 23 | 158 | 0.1456 | -11 | c.135 others(28): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132149757 | CCACCCCG others(4): Show |
C | intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0049 | 1 | 158 | 0.0063 | -11 | c.194 others(28): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 15/23 | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160293 | GGGGTCTA others(4): Show |
G | intron_variant | MODIFIER | HG01256.hp2 HG02895.hp1 HG02897.hp2 |
a0002a0004 | a0002c0016a0004c0014 | a0002c0016t0014a0004c0014t0001 | a0002c0016t0014g0143a0002c0016t0014g0144a0004c0014t0001g0074 | 3 | 158 | 0.0190 | -11 | c.222 others(30): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25699722 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(32): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0004g0179a0001c0001t0004g0192a0001c0001t0004g0249others(32): Show | 35 | 328 | 0.1067 | -11 | c.597 others(26): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JAM3_chr11_134064072_134157001 | 134077650 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01123.hp1 HG01192.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0001c0001t0015a0001c0001t0026others(6): Show | a0001c0001t0010g0016a0001c0001t0010g0268a0001c0001t0010g0270others(17): Show | 21 | 390 | 0.0539 | -11 | c.76+ others(26): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JAML_chr11_118188725_118230011 | 118200331 | GGTTACCA others(4): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0139 | 1 | 374 | 0.0027 | -11 | c.911 others(26): Show |
JAML | ENSG00000160593.20 | transcript | ENST00000356289.10 | protein_coding | 7/9 | chr11 | TogoVar | ||||||
JAML_chr11_118188725_118230011 | 118229125 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18944.hp2 NA19059.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0024 | 2 | 374 | 0.0054 | -11 | c.-42 others(22): Show |
JAML | ENSG00000160593.20 | transcript | ENST00000356289.10 | protein_coding | 4115 | chr11 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15457043 | CTGAGCAT others(4): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0176 | 1 | 284 | 0.0035 | -11 | c.493 others(28): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JAZF1_chr7_27825577_28185795 | 28035313 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01167.hp2 HG02293.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0018 | a0001c0001t0001g0120a0001c0001t0001g0130a0001c0001t0001g0135others(4): Show | 7 | 206 | 0.0340 | -11 | c.116 others(30): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28072901 | GTGATGAC others(4): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0129 | 1 | 206 | 0.0049 | -11 | c.116 others(30): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28092290 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG02027.hp1 HG02129.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0079a0001c0001t0001g0087a0001c0001t0001g0090others(11): Show | 14 | 206 | 0.0680 | -11 | c.115 others(30): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28173880 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02723.hp1 NA18941.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0149a0001c0001t0002g0040a0001c0001t0008g0039 | 3 | 206 | 0.0146 | -11 | c.115 others(28): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JCAD_chr10_30007803_30064586 | 30050314 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0040 | 1 | 398 | 0.0025 | -11 | c.-59 others(28): Show |
JCAD | ENSG00000165757.9 | transcript | ENST00000375377.2 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
JDP2_chr14_75423022_75479107 | 75448926 | CTGCACCT others(4): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0035 | 2 | 358 | 0.0056 | -11 | c.201 others(30): Show |
JDP2 | ENSG00000140044.13 | transcript | ENST00000651602.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
JHY_chr11_122877759_122968862 | 122911905 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG03225.hp1 HG03654.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0177a0001c0002t0002g0108a0001c0002t0002g0112 | 3 | 332 | 0.0090 | -11 | c.864 others(28): Show |
JHY | ENSG00000109944.11 | transcript | ENST00000227349.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JHY_chr11_122877759_122968862 | 122919352 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03195.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0114 | 2 | 332 | 0.0060 | -11 | c.865 others(28): Show |
JHY | ENSG00000109944.11 | transcript | ENST00000227349.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JHY_chr11_122877759_122968862 | 122922809 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02109.hp2 others(11): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0229a0001c0001t0001g0274a0001c0001t0004g0009others(11): Show | 14 | 332 | 0.0422 | -11 | c.865 others(28): Show |
JHY | ENSG00000109944.11 | transcript | ENST00000227349.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JMJD1C_chr10_63162225_63470977 | 63228211 | AAAAAATA others(4): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 homoSapiens_chm13v2.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0129a0005c0005t0001g0130a0005c0005t0001g0131 | 3 | 310 | 0.0097 | -11 | c.448 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63266849 | GTCATTTT others(4): Show |
G | intron_variant | MODIFIER | NA18956.hp2 NA19002.hp1 NA19060.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0238a0002c0002t0001g0239a0002c0002t0001g0264 | 3 | 310 | 0.0097 | -11 | c.334 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63349100 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0029 | 1 | 310 | 0.0032 | -11 | c.333 others(30): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63361719 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02922.hp2 NA20805.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0142 | 3 | 310 | 0.0097 | -11 | c.333 others(30): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD6_chr17_76713451_76731606 | 76728239 | GAAAAAAA others(4): Show |
G | upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 440 | 0.0023 | -11 | c.-17 others(22): Show |
JMJD6 | ENSG00000070495.15 | transcript | ENST00000397625.9 | protein_coding | 1634 | chr17 | TogoVar | ||||||
JMJD8_chr16_676670_689334 | 680923 | AGCCCGGA others(4): Show |
A | downstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 364 | 0.0028 | -11 | c.*18 others(22): Show |
JMJD8 | ENSG00000161999.13 | transcript | ENST00000609261.6 | protein_coding | 746 | chr16 | TogoVar | ||||||
JMY_chr5_79231131_79332211 | 79268466 | CTTTTTAT others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02615.hp1 others(9): Show |
a0002a0006 | a0002c0006a0006c0009 | a0002c0006t0008a0002c0006t0041a0006c0009t0008 | a0002c0006t0008g0003a0002c0006t0008g0004a0002c0006t0008g0009others(9): Show | 12 | 342 | 0.0351 | -11 | c.103 others(30): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JMY_chr5_79231131_79332211 | 79278767 | AAGAAGAA others(4): Show |
A | intron_variant | MODIFIER | NA18997.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0113 | 1 | 342 | 0.0029 | -11 | c.120 others(28): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
JMY_chr5_79231131_79332211 | 79310796 | CATTAAAG others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236a0001c0001t0002g0290 | 2 | 342 | 0.0059 | -11 | c.196 others(30): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JOSD1_chr22_38680543_38705943 | 38704283 | TTTGTTTT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(84): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0022others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0013a0001c0001t0002g0015others(34): Show | 87 | 376 | 0.2314 | -11 | c.-41 others(22): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 3341 | chr22 | TogoVar | ||||||
JOSD2_chr19_50500998_50516191 | 50509470 | AAGAAGTA others(4): Show |
A | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 376 | 0.0027 | -11 | c.146 others(26): Show |
JOSD2 | ENSG00000161677.12 | transcript | ENST00000598418.6 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44122781 | ATCAAAAC others(4): Show |
A | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0200 | 1 | 338 | 0.0030 | -11 | c.117 others(30): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134161 | ATAAATAT others(4): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(54): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0241a0001c0001t0001g0249others(52): Show | 57 | 338 | 0.1686 | -11 | c.117 others(32): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134361 | TATTTATT others(4): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 |
a0001 | a0001c0004 | a0001c0004t0044a0001c0004t0113 | a0001c0004t0044g0092a0001c0004t0113g0336 | 2 | 338 | 0.0059 | -11 | c.117 others(32): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134628 | TTATTATA others(4): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG03209.hp1 HG06807.hp2 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0088a0001c0004t0008g0089a0001c0004t0008g0090 | 3 | 338 | 0.0089 | -11 | c.117 others(32): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134914 | AATATATA others(4): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0316a0001c0001t0005g0317a0001c0001t0005g0318 | 3 | 338 | 0.0089 | -11 | c.117 others(32): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87602420 | GGGGGCGG others(4): Show |
G | upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 380 | 0.0026 | -11 | c.-72 others(20): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 87 | chr16 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87602461 | GCGGGGGC others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002 | a0001c0002t0001g0006a0001c0003t0002g0007a0001c0003t0002g0008others(1): Show | 4 | 380 | 0.0105 | -11 | c.-68 others(20): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 46 | chr16 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87657761 | ACCTGGGA others(4): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01167.hp2 others(14): Show |
a0001 | a0001c0002a0001c0003a0001c0008others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(8): Show | a0001c0002t0001g0358a0001c0003t0001g0091a0001c0003t0001g0359others(14): Show | 17 | 380 | 0.0447 | -11 | c.116 others(32): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JPH3_chr16_87597508_87703156 | 87659376 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 380 | 0.0026 | -11 | c.116 others(32): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JPH3_chr16_87597508_87703156 | 87686060 | CGTGGCTG others(4): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01256.hp1 HG01891.hp2 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0007others(4): Show | a0001c0002t0001a0001c0004t0001a0001c0007t0018others(6): Show | a0001c0002t0001g0365a0001c0004t0001g0043a0001c0007t0018g0375others(6): Show | 9 | 380 | 0.0237 | -11 | c.128 others(30): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JPT1_chr17_75130248_75159512 | 75141089 | TCAAAAAC others(4): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0134others(5): Show | 10 | 388 | 0.0258 | -11 | c.317 others(28): Show |
JPT1 | ENSG00000189159.16 | transcript | ENST00000409753.8 | protein_coding | 4/4 | chr17 | TogoVar |