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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FUT10_chr8_33365824_33478146 | 33380148 | C | CACTATAT others(171): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0006 | a0003c0006t0015 | a0003c0006t0015g0060 | 1 | 268 | 0.0037 | 178 | c.121 others(197): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
FXR2_chr17_7586230_7619897 | 7609982 | A | ATATATAC others(171): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 | 1 | 426 | 0.0024 | 178 | c.82- others(193): Show |
FXR2 | ENSG00000129245.13 | transcript | ENST00000250113.12 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241478 | C | CCACACCC others(171): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0067 | 1 | 183 | 0.0055 | 178 | c.107 others(197): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241619 | C | CCCCTTCC others(171): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 183 | 0.0055 | 178 | c.107 others(197): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241634 | C | CTCCCTAT others(171): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0035 | a0001c0035t0009 | a0001c0035t0009g0140 | 1 | 183 | 0.0055 | 178 | c.107 others(197): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241666 | C | CCTTCCCA others(171): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0025 | a0001c0025t0012 | a0001c0025t0012g0048 | 1 | 183 | 0.0055 | 178 | c.107 others(197): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241875 | A | AACACACA others(171): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 183 | 0.0055 | 178 | c.107 others(197): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(171): Show |
intron_variant | MODIFIER | NA18953.hp2 NA19012.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0026 a0001c0005t0001g0037 |
2 | 183 | 0.0109 | 178 | c.107 others(197): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(171): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 183 | 0.0055 | 178 | c.107 others(197): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241920 | C | CACACACA others(171): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0046 | 1 | 183 | 0.0055 | 178 | c.107 others(197): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132242429 | A | ACTTCCCG others(171): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0041 | a0001c0041t0015 | a0001c0041t0015g0178 | 1 | 183 | 0.0055 | 178 | c.107 others(197): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132243102 | A | ACACTTCC others(171): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 183 | 0.0055 | 178 | c.107 others(197): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GK_chrX_30648423_30736462 | 30663964 | T | TATATATA others(171): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 286 | 0.0035 | 178 | c.79- others(193): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308398 | T | TCACCACC others(171): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0089 | 1 | 422 | 0.0024 | 178 | c.961 others(195): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLIPR1L2_chr12_75386089_75437688 | 75433540 | T | TTATATAT others(171): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 | 1 | 360 | 0.0028 | 178 | c.*23 others(189): Show |
GLIPR1L2 | ENSG00000180481.11 | transcript | ENST00000550916.6 | protein_coding | 853 | chr12 | TogoVar | |||||||
GNG8_chr19_46628953_46641202 | 46635646 | G | GTGGGGTG others(171): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02155.hp2 NA18969.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 4 | 438 | 0.0091 | 178 | c.-44 others(193): Show |
GNG8 | ENSG00000167414.5 | transcript | ENST00000693335.1 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
GPR157_chr1_9095305_9134102 | 9116182 | A | ATATATAA others(171): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0003 | a0003c0006a0003c0008 | a0003c0006t0037a0003c0008t0016a0003c0008t0042 | a0003c0006t0037g0327 a0003c0008t0016g0325 a0003c0008t0016g0328 others(1): Show |
4 | 404 | 0.0099 | 178 | c.384 others(195): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GPR158_chr10_25170001_25607229 | 25536606 | T | TCCATTTC others(171): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 162 | 0.0062 | 178 | c.140 others(199): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRM5_chr11_88499642_89070982 | 88687530 | A | ACACACAT others(171): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 184 | 0.0054 | 178 | c.912 others(197): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
GRM5_chr11_88499642_89070982 | 88687530 | A | ACACACAT others(171): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0035 | 1 | 184 | 0.0054 | 178 | c.912 others(197): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
GRM5_chr11_88499642_89070982 | 88687579 | A | ATATATTA others(171): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0024 | 1 | 184 | 0.0054 | 178 | c.912 others(197): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
GRM7_chr3_6856115_7746533 | 7276785 | T | TCCTTCCT others(171): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0002 | a0001c0001t0001g0026 a0001c0014t0002g0011 |
2 | 80 | 0.0250 | 178 | c.737 others(197): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113346036 | A | ATCTGTGG others(171): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | 288 | 0.0069 | 178 | c.466 others(195): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346045 | C | CGAGAACA others(171): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 288 | 0.0035 | 178 | c.466 others(195): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346045 | C | CGAGAACA others(171): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 288 | 0.0035 | 178 | c.466 others(195): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346045 | C | CGAGAACA others(171): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG00741.hp2 others(6): Show |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0001a0008c0013t0001 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(6): Show |
9 | 288 | 0.0313 | 178 | c.466 others(195): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346045 | C | CGAGAACA others(171): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 288 | 0.0035 | 178 | c.466 others(195): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346045 | C | CGAGAACA others(171): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 288 | 0.0035 | 178 | c.466 others(195): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346046 | G | GAGAACAG others(171): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 288 | 0.0035 | 178 | c.466 others(195): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346200 | A | AGACCCAG others(171): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0059 a0001c0001t0001g0112 a0005c0007t0001g0124 others(1): Show |
4 | 288 | 0.0139 | 178 | c.466 others(195): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346724 | G | GGCCAAGA others(171): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0167 | 1 | 288 | 0.0035 | 178 | c.466 others(195): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347025 | T | TGAGAACA others(171): Show |
intron_variant | MODIFIER | HG00423.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0134 |
2 | 288 | 0.0069 | 178 | c.466 others(195): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347263 | T | TGAGAACA others(171): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0065 others(5): Show |
8 | 288 | 0.0278 | 178 | c.466 others(195): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347531 | T | TGAGAGCG others(171): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 288 | 0.0035 | 178 | c.466 others(195): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653201 | C | CCCTCCTC others(171): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 290 | 0.0035 | 178 | c.427 others(195): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HAVCR1_chr5_157024413_157064116 | 157044607 | G | GAGAAAGA others(171): Show |
intron_variant | MODIFIER | HG03225.hp1 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0197 a0002c0002t0001g0201 |
2 | 352 | 0.0057 | 178 | c.782 others(195): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HLA-DQB1_chr6_32654467_32671657 | 32671053 | C | CTGCACCC others(171): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 NA18970.hp2 NA19064.hp2 |
a0002a0016 | a0002c0002a0016c0018 | a0002c0002t0002a0016c0018t0002 | a0002c0002t0002g0010 a0002c0002t0002g0041 a0016c0018t0002g0042 |
3 | 402 | 0.0075 | 178 | c.-44 others(189): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 4397 | chr6 | TogoVar | |||||||
HSF1_chr8_144286604_144319720 | 144313736 | G | GCCTCCCC others(171): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 330 | 0.0030 | 178 | c.124 others(195): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323136 | T | TATATATA others(171): Show |
upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0036 | 1 | 323 | 0.0031 | 178 | c.-19 others(189): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1833 | chr21 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599403 | G | GCCGTCCG others(171): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02738.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0003 | a0001c0002t0001g0005 a0001c0002t0001g0207 a0001c0002t0001g0223 others(1): Show |
4 | 334 | 0.0120 | 178 | c.369 others(195): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599420 | T | TGGGGGGG others(171): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0122 | 1 | 334 | 0.0030 | 178 | c.369 others(195): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1361064 | T | TCTCTCTC others(171): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 115 | 0.0087 | 178 | c.759 others(195): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124110237 | T | TATATATA others(171): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0072 | a0001c0072t0001 | a0001c0072t0001g0060 | 1 | 116 | 0.0086 | 178 | c.73+ others(195): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124110267 | T | TATATATA others(171): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19002.hp2 NA19010.hp1 |
a0001 | a0001c0009a0001c0022 | a0001c0009t0001a0001c0022t0001 | a0001c0009t0001g0070 a0001c0009t0001g0072 a0001c0022t0001g0008 |
3 | 116 | 0.0259 | 178 | c.73+ others(195): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27713703 | T | TACATATT others(171): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0132 | 1 | 152 | 0.0066 | 178 | c.160 others(197): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21920860 | C | CACTGTAC others(171): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0069 | 1 | 80 | 0.0125 | 178 | c.61+ others(195): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429100 | T | TATATATA others(171): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 | 1 | 386 | 0.0026 | 178 | c.-44 others(189): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4290 | chr19 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112514417 | G | GCCCGGCC others(171): Show |
intron_variant | MODIFIER | HG01258.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0197 |
2 | 308 | 0.0065 | 178 | c.-25 others(197): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIF1A_chr2_240708767_240825219 | 240781465 | A | ACACACAC others(171): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03540.hp2 |
a0004 | a0004c0016 | a0004c0016t0004 | a0004c0016t0004g0007 a0004c0016t0004g0014 |
2 | 330 | 0.0061 | 178 | c.882 others(195): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865330 | T | TACATACA others(171): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02451.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 |
3 | 326 | 0.0092 | 178 | c.-7+ others(195): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar |