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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCTC others(6): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0134 | 1 | 158 | 0.0063 | 13 | c.*11 others(34): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAM2_chr21_25634258_25722562 | 25648450 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0151 | 1 | 328 | 0.0031 | 13 | c.67+ others(28): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660776 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 328 | 0.0031 | 13 | c.67+ others(30): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02738.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0193a0001c0002t0003g0153 | 2 | 328 | 0.0061 | 13 | c.67+ others(30): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JAM3_chr11_134064072_134157001 | 134111133 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0061 | 1 | 390 | 0.0026 | 13 | c.77- others(30): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JAM3_chr11_134064072_134157001 | 134147459 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0064 | 1 | 390 | 0.0026 | 13 | c.713 others(30): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15279261 | A | AGGTTGTG others(6): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0157 | 1 | 284 | 0.0035 | 13 | c.45+ others(30): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15413002 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02896.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0005 | a0001c0001t0002g0095a0001c0002t0005g0192 | 2 | 284 | 0.0070 | 13 | c.323 others(30): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15473514 | G | GCCCCCCC others(6): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169 | 1 | 284 | 0.0035 | 13 | c.670 others(30): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15486806 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0010a0002c0024 | a0001c0001t0014a0002c0010t0007a0002c0024t0006 | a0001c0001t0014g0264a0002c0010t0007g0165a0002c0024t0006g0143 | 3 | 284 | 0.0106 | 13 | c.671 others(28): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15494413 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0042 | a0001c0003t0042g0007 | 1 | 284 | 0.0035 | 13 | c.907 others(30): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JAZF1_chr7_27825577_28185795 | 27979405 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 206 | 0.0049 | 13 | c.188 others(32): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28035313 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0196a0001c0001t0002g0018 | 2 | 206 | 0.0097 | 13 | c.116 others(32): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28035340 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 206 | 0.0049 | 13 | c.116 others(32): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28092290 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 206 | 0.0049 | 13 | c.115 others(32): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28110496 | A | AAGGAAAG others(6): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100a0001c0001t0004g0103a0001c0001t0004g0142 | 3 | 206 | 0.0146 | 13 | c.115 others(32): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28120501 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0174a0001c0001t0002g0018 | 2 | 206 | 0.0097 | 13 | c.115 others(32): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JDP2_chr14_75423022_75479107 | 75433195 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 358 | 0.0028 | 13 | c.-23 others(30): Show |
JDP2 | ENSG00000140044.13 | transcript | ENST00000651602.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
JHY_chr11_122877759_122968862 | 122910938 | T | TGAAGCGA others(6): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0058 | 1 | 332 | 0.0030 | 13 | c.864 others(30): Show |
JHY | ENSG00000109944.11 | transcript | ENST00000227349.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JKAMP_chr14_59479517_59510410 | 59502773 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02809.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0107a0001c0002t0006g0110 | 2 | 358 | 0.0056 | 13 | c.718 others(30): Show |
JKAMP | ENSG00000050130.18 | transcript | ENST00000616435.5 | protein_coding | 6/6 | chr14 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63277731 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 NA19030.hp1 others(1): Show |
a0003a0017 | a0003c0003a0017c0017 | a0003c0003t0001a0017c0017t0001 | a0003c0003t0001g0174a0003c0003t0001g0198a0003c0003t0001g0203others(1): Show | 4 | 310 | 0.0129 | 13 | c.334 others(32): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63292144 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00733.hp2 others(12): Show |
a0001a0005 | a0001c0001a0001c0038a0005c0005 | a0001c0001t0001a0001c0038t0001a0005c0005t0001 | a0001c0001t0001g0032a0001c0001t0001g0116a0001c0001t0001g0124others(12): Show | 15 | 310 | 0.0484 | 13 | c.334 others(32): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63337456 | C | CGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02622.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0008a0001c0010 | a0001c0001t0001a0001c0008t0001a0001c0010t0001 | a0001c0001t0001g0032a0001c0001t0001g0142a0001c0001t0001g0151others(2): Show | 5 | 310 | 0.0161 | 13 | c.333 others(32): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63337470 | G | GGGGGGGG others(6): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0017 | a0017c0017 | a0017c0017t0001 | a0017c0017t0001g0298 | 1 | 310 | 0.0032 | 13 | c.333 others(32): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63337618 | G | GAAAAAGA others(6): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0038 | a0001c0001t0001a0001c0038t0001 | a0001c0001t0001g0125a0001c0038t0001g0128 | 2 | 310 | 0.0065 | 13 | c.333 others(32): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63387629 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 310 | 0.0032 | 13 | c.169 others(30): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | ||||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 386 | 0.0026 | 13 | c.65- others(28): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 386 | 0.0026 | 13 | c.65- others(28): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATTTTT others(6): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 386 | 0.0026 | 13 | c.65- others(28): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
JMY_chr5_79231131_79332211 | 79255128 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02895.hp1 HG03130.hp2 others(2): Show |
a0003a0004 | a0003c0005a0004c0003 | a0003c0005t0009a0003c0005t0013a0004c0003t0010 | a0003c0005t0009g0206a0003c0005t0013g0202a0003c0005t0013g0203others(2): Show | 5 | 342 | 0.0146 | 13 | c.103 others(34): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JOSD2_chr19_50500998_50516191 | 50510051 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03516.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0162others(1): Show | 4 | 376 | 0.0106 | 13 | c.146 others(28): Show |
JOSD2 | ENSG00000161677.12 | transcript | ENST00000598418.6 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134190 | T | TATAAATA others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0225 | 1 | 338 | 0.0030 | 13 | c.117 others(34): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134210 | T | TTATAAAT others(6): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0127 | 1 | 338 | 0.0030 | 13 | c.117 others(34): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134325 | A | AATAAATA others(6): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0004 | a0004c0015 | a0004c0015t0109 | a0004c0015t0109g0295 | 1 | 338 | 0.0030 | 13 | c.117 others(34): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87649783 | A | AAGGTTCA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(134): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(46): Show | a0001c0001t0001g0004a0001c0001t0001g0033a0001c0001t0001g0034others(134): Show | 137 | 380 | 0.3605 | 13 | 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 | 87659374 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0023 | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0002t0001g0164a0001c0003t0001g0091a0001c0003t0001g0173others(3): Show | 6 | 380 | 0.0158 | 13 | c.116 others(34): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JPH3_chr16_87597508_87703156 | 87663115 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(15): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(6): Show | a0001c0002t0001a0001c0003t0007a0001c0005t0001others(10): Show | a0001c0002t0001g0164a0001c0002t0001g0235a0001c0003t0007g0303others(15): Show | 18 | 380 | 0.0474 | 13 | c.116 others(34): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JPT1_chr17_75130248_75159512 | 75150860 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 388 | 0.0026 | 13 | c.57- others(28): Show |
JPT1 | ENSG00000189159.16 | transcript | ENST00000409753.8 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
JRKL_chr11_96385013_96398561 | 96395819 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0001a0001c0001t0006g0001 | 2 | 428 | 0.0047 | 13 | c.*35 others(24): Show |
JRKL | ENSG00000183340.7 | transcript | ENST00000332349.5 | protein_coding | 2259 | chr11 | TogoVar | ||||||
JRK_chr8_142652460_142674967 | 142669671 | G | GGGCCGCG others(6): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0206 | 1 | 466 | 0.0022 | 13 | c.-46 others(30): Show |
JRK | ENSG00000234616.9 | transcript | ENST00000612905.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
JSRP1_chr19_2247252_2261417 | 2257179 | C | CACAGAAA others(6): Show |
upstream_gene_variant | MODIFIER | NA18949.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0004 | 1 | 436 | 0.0023 | 13 | c.-82 others(22): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 763 | chr19 | TogoVar | ||||||
JUNB_chr19_12786486_12798315 | 12797656 | C | CTTTCTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02717.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0000a0001c0001t0003g0000 | 4 | 362 | 0.0111 | 13 | c.*48 others(24): Show |
JUNB | ENSG00000171223.6 | transcript | ENST00000302754.6 | protein_coding | 4342 | chr19 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124181076 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19030.hp1 |
a0001 | a0001c0002a0001c0030 | a0001c0002t0007a0001c0030t0002 | a0001c0002t0007g0020a0001c0030t0002g0109 | 2 | 116 | 0.0172 | 13 | c.74- others(30): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124247453 | T | TGTAATAA others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(103): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(68): Show | a0001c0001t0003a0001c0001t0033a0001c0002t0002others(86): Show | a0001c0001t0003g0010a0001c0001t0003g0029a0001c0001t0003g0112others(103): Show | 106 | 116 | 0.9138 | 13 | c.263 others(32): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 3/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124265298 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02647.hp1 |
a0001 | a0001c0001a0001c0027 | a0001c0001t0003a0001c0027t0005 | a0001c0001t0003g0112a0001c0027t0005g0032 | 2 | 116 | 0.0172 | 13 | c.456 others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 4/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124304127 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0022 | 1 | 116 | 0.0086 | 13 | c.109 others(32): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 6/59 | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124355709 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0047 | a0001c0047t0009 | a0001c0047t0009g0092 | 1 | 116 | 0.0086 | 13 | c.177 others(32): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 10/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124642806 | G | GTTGTTTT others(6): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01258.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0043a0001c0049a0001c0055others(2): Show | a0001c0043t0006a0001c0049t0001a0001c0055t0001others(2): Show | a0001c0043t0006g0106a0001c0049t0001g0003a0001c0055t0001g0031others(2): Show | 5 | 116 | 0.0431 | 13 | c.566 others(32): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 37/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124646391 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18522.hp1 |
a0001 | a0001c0062a0001c0067 | a0001c0062t0019a0001c0067t0016 | a0001c0062t0019g0074a0001c0067t0016g0103 | 2 | 116 | 0.0172 | 13 | c.566 others(32): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 37/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KANK1_chr9_499695_751103 | 598620 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0188a0001c0001t0004g0206 | 2 | 254 | 0.0079 | 13 | c.-83 others(32): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |