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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMBN_chr4_70587256_70612288 | 70606516 | G | GCGTCACC others(12): Show |
frameshift_variant others(1): Show |
HIGH | NA18959.hp2 | a0018 | a0018c0019 | a0018c0019t0001 | a0018c0019t0001g0009 | 1 | 478 | 0.0021 | 19 | c.113 others(28): Show |
p.Asp others(5): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 13/13 | 1253/2005 | 1150/1344 | 384/447 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
AMBRA1_chr11_46391414_46599023 | 46527477 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0073 a0001c0001t0001g0074 |
3 | 66 | 0.0455 | 19 | c.207 others(40): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 8 | 0.1250 | 19 | c.-12 others(38): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46568803 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007 | 1 | 81 | 0.0123 | 19 | c.-12 others(40): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46585695 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 67 | 0.0149 | 19 | c.-12 others(38): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46585695 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 67 | 0.0149 | 19 | c.-12 others(38): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMDHD1_chr12_95938331_95973720 | 95964928 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0081 | 1 | 65 | 0.0154 | 19 | c.939 others(34): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95971936 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02572.hp1 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0114 a0002c0003t0001g0033 a0002c0003t0001g0126 |
3 | 152 | 0.0197 | 19 | c.*40 others(30): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 3217 | chr12 | TogoVar | |||||||
AMDHD2_chr16_2515371_2536417 | 2533430 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01074.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show |
22 | 34 | 0.6471 | 19 | c.*38 others(30): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | |||||||
AMDHD2_chr16_2515371_2536417 | 2533460 | T | TTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 313 | 0.0032 | 19 | c.*38 others(30): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2044 | chr16 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174825 | C | CCTTCCTT others(12): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0000 | 1 | 164 | 0.0061 | 19 | c.-32 others(30): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2538 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174825 | C | CCTTCCTT others(12): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0000 | 1 | 164 | 0.0061 | 19 | c.-32 others(30): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2538 | chr13 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56359468 | T | TAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0213 a0001c0001t0009g0216 |
2 | 335 | 0.0060 | 19 | c.*34 others(30): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1983 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56374415 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03688.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0223 a0001c0001t0010g0204 |
2 | 95 | 0.0211 | 19 | c.138 others(38): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406070 | G | GGGGAGAG others(12): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0240 | 1 | 353 | 0.0028 | 19 | c.667 others(34): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406134 | A | AGGAGAGG others(12): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0195 | 1 | 346 | 0.0029 | 19 | c.667 others(34): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406552 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02080.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0025others(1): Show | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0295 others(6): Show |
9 | 95 | 0.0947 | 19 | c.667 others(36): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMPD2_chr1_109614837_109637051 | 109615620 | A | AAAAGAAA others(12): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 1 | 28 | 0.0357 | 19 | c.-49 others(30): Show |
AMPD2 | ENSG00000116337.20 | transcript | ENST00000528667.7 | protein_coding | 4216 | chr1 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38433724 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0087 | 1 | 16 | 0.0625 | 19 | c.113 others(38): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 12/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38444997 | A | ATATACAC others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02258.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0009t0006 | a0001c0001t0004g0025 a0001c0001t0004g0045 a0001c0001t0004g0275 others(1): Show |
4 | 286 | 0.0140 | 19 | c.101 others(38): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38570972 | T | TATATATT others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0048 a0001c0001t0001g0081 a0001c0001t0001g0102 others(26): Show |
29 | 178 | 0.1629 | 19 | c.70- others(36): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38571280 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0257 | 1 | 274 | 0.0036 | 19 | c.70- others(36): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38571344 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00733.hp2 others(70): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0041 others(70): Show |
73 | 221 | 0.3303 | 19 | c.70- others(36): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
ANAPC10_chr4_144989576_145103196 | 145026987 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 200 | 0.0050 | 19 | c.328 others(38): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | |||||||
ANAPC11_chr17_81886723_81905255 | 81892542 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 299 | 0.0033 | 19 | c.-75 others(34): Show |
ANAPC11 | ENSG00000141552.18 | transcript | ENST00000344877.10 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110368308 | G | GAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 NA18947.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0255 |
2 | 117 | 0.0171 | 19 | c.*58 others(30): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 4591 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110382453 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 279 | 0.0036 | 19 | c.935 others(34): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110382457 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0041 a0001c0001t0003g0011 a0001c0001t0003g0013 |
3 | 217 | 0.0138 | 19 | c.935 others(34): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110382459 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 158 | 0.0063 | 19 | c.935 others(34): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110382461 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 94 | 0.0106 | 19 | c.935 others(34): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110387291 | G | GAGAGAGA others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 272 | 0.0037 | 19 | c.674 others(34): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 5/10 | chr12 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6562552 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG00741.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0008a0001c0002t0009a0001c0007t0066others(4): Show | a0001c0001t0008g0002 a0001c0001t0008g0004 a0001c0002t0009g0003 others(5): Show |
8 | 15 | 0.5333 | 19 | c.288 others(32): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPTL1_chr1_178844535_178876077 | 178856394 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0226 | 1 | 122 | 0.0082 | 19 | c.824 others(36): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
ANGPTL5_chr11_101885674_101921522 | 101889180 | A | AAAGAAAG others(12): Show |
downstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 420 | 0.0024 | 19 | c.*20 others(30): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1493 | chr11 | TogoVar | |||||||
ANK1_chr8_41648225_41802622 | 41674115 | C | CCCTCAGC others(12): Show |
intron_variant | MODIFIER | HG01168.hp1 HG03704.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0002 | a0001c0002t0001g0183 a0001c0004t0002g0220 |
2 | 276 | 0.0072 | 19 | c.453 others(38): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 37/42 | chr8 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113163764 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 93 | 0.0108 | 19 | c.85- others(36): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60036422 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02723.hp1 NA19000.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0133 a0001c0002t0003g0139 |
2 | 30 | 0.0667 | 19 | c.*19 others(36): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 43/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60100234 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0070 | a0001c0070t0002 | a0001c0070t0002g0095 | 1 | 10 | 0.1000 | 19 | c.332 others(38): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 28/43 | chr10 | TogoVar | |||||||
ANKDD1A_chr15_64906902_64963691 | 64951560 | T | TTTCTTCT others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(80): Show |
a0001a0002a0005others(2): Show | a0001c0002a0002c0003a0002c0005others(5): Show | a0001c0002t0002a0001c0002t0004a0002c0003t0002others(6): Show | a0001c0002t0002g0147 a0001c0002t0002g0150 a0001c0002t0002g0151 others(76): Show |
83 | 139 | 0.5971 | 19 | c.148 others(38): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64953543 | T | TTCCTTCT others(12): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 336 | 0.0030 | 19 | c.148 others(38): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKDD1B_chr5_75606453_75676846 | 75612322 | C | CCCCCCCG others(12): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18962.hp2 |
a0009 | a0009c0010 | a0009c0010t0009 | a0009c0010t0009g0010 | 2 | 335 | 0.0060 | 19 | c.193 others(34): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKDD1B_chr5_75606453_75676846 | 75637240 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0321 | 1 | 65 | 0.0154 | 19 | c.798 others(36): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56189170 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0029 | 1 | 47 | 0.0213 | 19 | c.-70 others(38): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56189179 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02965.hp2 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0013a0002c0002t0017 | a0002c0002t0013g0031 a0002c0002t0013g0032 a0002c0002t0017g0030 |
3 | 81 | 0.0370 | 19 | c.-70 others(38): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56189179 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02486.hp2 HG02717.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0002c0017others(1): Show | a0001c0001t0001a0001c0010t0007a0002c0017t0010others(1): Show | a0001c0001t0001g0072 a0001c0010t0007g0069 a0002c0017t0010g0078 others(1): Show |
4 | 82 | 0.0488 | 19 | c.-70 others(38): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56368276 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02717.hp1 |
a0001a0003 | a0001c0010a0003c0006 | a0001c0010t0007a0003c0006t0018 | a0001c0010t0007g0069 a0003c0006t0018g0057 |
2 | 14 | 0.1429 | 19 | c.602 others(36): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92309938 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 HG03139.hp1 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0020 a0001c0004t0005g0024 a0001c0004t0005g0025 |
3 | 298 | 0.0101 | 19 | c.486 others(36): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 3/19 | chr7 | TogoVar | |||||||
ANKIB1_chr7_92240974_92406383 | 92309940 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0022 a0001c0004t0005g0027 |
2 | 270 | 0.0074 | 19 | c.486 others(36): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 3/19 | chr7 | TogoVar | |||||||
ANKIB1_chr7_92240974_92406383 | 92309942 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 HG03098.hp2 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0002a0001c0009t0001 | a0001c0003t0002g0262 a0001c0009t0001g0048 |
2 | 122 | 0.0164 | 19 | c.486 others(36): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92309942 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0156 | 1 | 121 | 0.0083 | 19 | c.486 others(36): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |