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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP1_chr4_6021199_6205549 | 6037621 | T | TCCCTCCA others(27): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02970.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0177a0001c0001t0001g0205a0001c0001t0001g0206others(1): Show | 4 | 233 | 0.0172 | 34 | c.217 others(53): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 18/20 | chr4 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147742155 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0234 | 1 | 250 | 0.0040 | 34 | c.-14 others(55): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132097884 | T | TCTCCCCT others(27): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 |
a0002 | a0002c0004a0002c0037 | a0002c0004t0004a0002c0037t0001 | a0002c0004t0004g0040a0002c0037t0001g0139 | 2 | 158 | 0.0127 | 34 | c.-13 others(53): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132097903 | T | TTCCCCTT others(27): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0006 | a0006c0044 | a0006c0044t0002 | a0006c0044t0002g0031 | 1 | 158 | 0.0063 | 34 | c.-13 others(53): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132168085 | A | AGGGGCAG others(27): Show |
3_prime_UTR_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0008 | a0002c0008t0018 | a0002c0008t0018g0120 | 1 | 158 | 0.0063 | 34 | c.*15 others(43): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/24 | 1088 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 328 | 0.0031 | 34 | c.67+ others(51): 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(27): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03491.hp2 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0125a0001c0001t0002g0275a0001c0001t0010g0222 | 3 | 328 | 0.0092 | 34 | c.67+ others(51): 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(27): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0249 | 1 | 328 | 0.0031 | 34 | c.67+ others(51): 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(27): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 328 | 0.0031 | 34 | c.67+ others(51): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JAM3_chr11_134064072_134157001 | 134093823 | T | TGTCACTT others(27): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0013others(9): Show | a0001c0001t0006g0072a0001c0001t0006g0073a0001c0001t0006g0074others(43): Show | 47 | 390 | 0.1205 | 34 | c.76+ others(51): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | chr11 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15415631 | G | GCCGGGCG others(27): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02132.hp2 |
a0001a0006 | a0001c0003a0006c0021 | a0001c0003t0003a0006c0021t0003 | a0001c0003t0003g0059a0006c0021t0003g0170 | 2 | 284 | 0.0070 | 34 | c.323 others(51): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15469361 | C | CCCCTCCC others(27): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0226 | 1 | 284 | 0.0035 | 34 | c.670 others(49): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15469361 | C | CTCCTCCC others(27): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00738.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0113a0001c0001t0001g0134a0001c0001t0001g0156others(29): Show | 32 | 284 | 0.1127 | 34 | c.670 others(49): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15469361 | C | CTCCTCCC others(27): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02300.hp2 HG02602.hp1 others(8): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0038a0001c0005t0003a0001c0005t0004others(1): Show | a0001c0002t0038g0096a0001c0005t0003g0032a0001c0005t0004g0031others(8): Show | 11 | 284 | 0.0387 | 34 | c.670 others(49): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15469387 | T | TCCCCCCT others(27): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 284 | 0.0035 | 34 | c.670 others(49): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JAZF1_chr7_27825577_28185795 | 27849752 | G | GACACAGA others(27): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 206 | 0.0049 | 34 | c.386 others(51): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27849772 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02040.hp1 HG02109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0091a0001c0001t0001g0186a0001c0001t0001g0195others(2): Show | 5 | 206 | 0.0243 | 34 | c.386 others(51): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27851894 | T | TGTTCTGA others(27): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 206 | 0.0049 | 34 | c.386 others(53): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27898304 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA18959.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0078a0001c0001t0020g0115 | 2 | 206 | 0.0097 | 34 | c.189 others(51): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28110504 | A | AAAGGAAA others(27): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 206 | 0.0049 | 34 | c.115 others(53): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JKAMP_chr14_59479517_59510410 | 59508399 | T | TACACACA others(27): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp2 NA19006.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0002g0003 | 3 | 358 | 0.0084 | 34 | c.*43 others(45): Show |
JKAMP | ENSG00000050130.18 | transcript | ENST00000616435.5 | protein_coding | 2990 | chr14 | TogoVar | ||||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 386 | 0.0026 | 34 | c.65- others(49): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18953.hp2 NA18965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 4 | 386 | 0.0104 | 34 | c.65- others(49): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG04115.hp2 HG04204.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0140 | 3 | 386 | 0.0078 | 34 | c.65- others(49): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145a0001c0001t0002g0164 | 2 | 386 | 0.0052 | 34 | c.65- others(49): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 386 | 0.0026 | 34 | c.65- others(49): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 386 | 0.0026 | 34 | c.65- others(49): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
JPH1_chr8_74229700_74326540 | 74296019 | G | GACACACA others(27): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01981.hp1 HG02300.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0296a0001c0001t0002g0132a0001c0001t0002g0217others(2): Show | 5 | 330 | 0.0152 | 34 | c.113 others(55): Show |
JPH1 | ENSG00000104369.5 | transcript | ENST00000342232.5 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44126139 | A | AGAGAGAG others(27): Show |
intron_variant | MODIFIER | HG03704.hp2 HG04184.hp1 NA18962.hp1 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0065a0002c0005t0004a0002c0005t0100 | a0002c0002t0065g0118a0002c0005t0004g0211a0002c0005t0100g0210 | 3 | 338 | 0.0089 | 34 | c.117 others(53): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44126168 | G | GGGAGGGA others(27): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0006 | a0001c0006t0043 | a0001c0006t0043g0048 | 1 | 338 | 0.0030 | 34 | c.117 others(53): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 504779 | C | CGCGCCCC others(27): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01123.hp1 HG01123.hp2 others(46): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0015a0001c0001t0001g0027a0001c0001t0001g0040others(46): Show | 49 | 254 | 0.1929 | 34 | c.-84 others(47): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK3_chr19_8317584_8348262 | 8340291 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03139.hp2 |
a0001a0003 | a0001c0012a0003c0003 | a0001c0012t0001a0003c0003t0001 | a0001c0012t0001g0220a0003c0003t0001g0046 | 2 | 406 | 0.0049 | 34 | c.-28 others(51): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8340291 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03486.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0038a0003c0003t0001g0044 | 2 | 406 | 0.0049 | 34 | c.-28 others(51): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8340291 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0043 | 1 | 406 | 0.0025 | 34 | c.-28 others(51): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
KANK4_chr1_62231165_62324434 | 62278400 | T | TCTTTCTT others(27): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01975.hp2 HG02015.hp1 others(3): Show |
a0001a0023 | a0001c0001a0001c0009a0023c0048 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0052a0001c0001t0003g0299a0001c0001t0008g0248others(3): Show | 6 | 322 | 0.0186 | 34 | c.16+ others(49): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
KANK4_chr1_62231165_62324434 | 62323131 | A | ATTCTTTT others(27): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0035 | 1 | 322 | 0.0031 | 34 | c.-40 others(45): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 3698 | chr1 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210162222 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 284 | 0.0035 | 34 | c.-29 others(51): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 321 | 0.0031 | 34 | c.129 others(53): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL3_chr2_96588172_96643312 | 96615165 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02970.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0184a0001c0001t0002g0188a0001c0001t0022g0183 | 3 | 340 | 0.0088 | 34 | c.664 others(51): Show |
KANSL3 | ENSG00000114982.19 | transcript | ENST00000431828.6 | protein_coding | 5/20 | chr2 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20081878 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 374 | 0.0027 | 34 | c.430 others(51): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20149495 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0300 | 1 | 374 | 0.0027 | 34 | c.230 others(53): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KATNBL1_chr15_34135674_34215096 | 34181856 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008a0001c0001t0003g0009a0001c0001t0003g0018 | 3 | 344 | 0.0087 | 34 | c.-14 others(53): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27713728 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0018 | a0018c0025 | a0018c0025t0003 | a0018c0025t0003g0111 | 1 | 152 | 0.0066 | 34 | c.160 others(53): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 13/27 | chr16 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14695510 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03209.hp1 |
a0001a0002 | a0001c0013a0002c0004 | a0001c0013t0021a0002c0004t0001 | a0001c0013t0021g0051a0002c0004t0001g0032 | 2 | 146 | 0.0137 | 34 | c.226 others(53): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883318 | A | AAGAGAGA others(27): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 | 1 | 146 | 0.0069 | 34 | c.227 others(53): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883340 | G | GAGAGAGA others(27): Show |
intron_variant | MODIFIER | HG02273.hp2 HG03492.hp1 |
a0002a0003 | a0002c0002a0003c0010 | a0002c0002t0001a0003c0010t0002 | a0002c0002t0001g0085a0003c0010t0002g0066 | 2 | 146 | 0.0137 | 34 | c.227 others(53): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883345 | A | AGAGAGGG others(27): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0084 | 1 | 146 | 0.0069 | 34 | c.227 others(53): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883499 | C | CCAGGAAA others(27): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02809.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0006a0001c0001t0003g0050a0001c0001t0003g0146others(2): Show | 5 | 146 | 0.0343 | 34 | c.227 others(53): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15101164 | T | TTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02273.hp1 HG02523.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0003a0002c0002t0001a0002c0004t0001 | a0001c0001t0003g0135a0002c0002t0001g0011a0002c0002t0001g0106others(1): Show | 4 | 146 | 0.0274 | 34 | c.154 others(51): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1990653 | G | GCCCTGTC others(27): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 389 | 0.0026 | 34 | c.-90 others(53): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |