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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIF25_chr6_167992671_168050091 | 168001579 | GCGTGGCC others(27): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(60): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0022others(8): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0017others(13): Show | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 others(58): Show |
63 | 374 | 0.1684 | -34 | c.-36 others(51): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245270184 | ATTCCTTC others(27): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0022 | 1 | 72 | 0.0139 | -34 | c.466 others(53): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245374086 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0050 | 1 | 148 | 0.0068 | -34 | c.999 others(51): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245614857 | TTCGGATA others(27): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01169.hp1 HG01175.hp1 others(7): Show |
a0001a0002a0014others(1): Show | a0001c0002a0001c0005a0001c0042others(5): Show | a0001c0002t0005a0001c0002t0050a0001c0005t0010others(6): Show | a0001c0002t0005g0017 a0001c0002t0050g0102 a0001c0005t0010g0028 others(7): Show |
10 | 15 | 0.6667 | -34 | c.209 others(53): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF6_chr6_39324990_39730408 | 39337203 | CTTTCTTT others(27): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0008 | a0008c0016 | a0008c0016t0041 | a0008c0016t0041g0043 | 1 | 172 | 0.0058 | -34 | c.242 others(51): Show |
KIF6 | ENSG00000164627.18 | transcript | ENST00000287152.12 | protein_coding | 22/22 | chr6 | TogoVar | |||||||
KIRREL2_chr19_35851911_35872136 | 35854606 | AGTCATTG others(27): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp1 | a0011 | a0011c0022 | a0011c0022t0001 | a0011c0022t0001g0001 | 1 | 338 | 0.0030 | -34 | c.-25 others(45): Show |
KIRREL2 | ENSG00000126259.20 | transcript | ENST00000360202.10 | protein_coding | 2304 | chr19 | TogoVar | |||||||
KLF17_chr1_44113821_44140140 | 44117436 | ATTTATTT others(27): Show |
A | upstream_gene_variant | MODIFIER | HG04204.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0183 | 1 | 160 | 0.0063 | -34 | c.-14 others(45): Show |
KLF17 | ENSG00000171872.5 | transcript | ENST00000372299.4 | protein_coding | 1384 | chr1 | TogoVar | |||||||
KLF9_chr9_70379604_70419657 | 70408988 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | NA18951.hp2 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0150 |
2 | 398 | 0.0050 | -34 | c.505 others(51): Show |
KLF9 | ENSG00000119138.5 | transcript | ENST00000377126.4 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
KLHDC1_chr14_49688120_49758150 | 49713798 | GTATATAT others(27): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02615.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(1): Show | a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0072 others(7): Show |
10 | 159 | 0.0629 | -34 | c.404 others(51): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KLHDC1_chr14_49688120_49758150 | 49713818 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG03098.hp1 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0184 a0001c0002t0001g0187 |
2 | 206 | 0.0097 | -34 | c.404 others(51): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KLHL15_chrX_23978720_24032186 | 23979570 | AAAAAAAA others(27): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 270 | 0.0037 | -34 | c.*83 others(45): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4149 | chrX | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23979580 | AAAAAAAA others(27): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 | 1 | 278 | 0.0036 | -34 | c.*83 others(45): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4139 | chrX | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69780699 | TATGTATA others(27): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01071.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0062 a0001c0001t0003g0169 a0001c0001t0005g0014 others(4): Show |
7 | 178 | 0.0393 | -34 | c.163 others(55): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
KLHL29_chr2_23380179_23713606 | 23537417 | TACACACA others(27): Show |
T | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 5 | 0.2000 | -34 | c.-45 others(53): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHL29_chr2_23380179_23713606 | 23670917 | GCTCTCTC others(27): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 57 | 0.0175 | -34 | c.941 others(53): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHL2_chr4_165202561_165328147 | 165264704 | GTATATAT others(27): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0214 |
2 | 194 | 0.0103 | -34 | c.544 others(51): Show |
KLHL2 | ENSG00000109466.14 | transcript | ENST00000226725.11 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KLHL2_chr4_165202561_165328147 | 165264706 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0174 | 1 | 150 | 0.0067 | -34 | c.544 others(51): Show |
KLHL2 | ENSG00000109466.14 | transcript | ENST00000226725.11 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KLHL4_chrX_87512802_87675050 | 87557704 | CTTTTAAA others(27): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(105): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0041 others(101): Show |
108 | 257 | 0.4202 | -34 | c.422 others(53): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KLK5_chr19_50938303_50958038 | 50945049 | TTCCTTTC others(27): Show |
T | intron_variant | MODIFIER | HG02602.hp2 HG03834.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0093 a0001c0001t0002g0194 a0001c0001t0003g0292 |
3 | 377 | 0.0080 | -34 | c.727 others(51): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152297047 | AAGAAAGA others(27): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG03098.hp1 HG03195.hp2 others(2): Show |
a0002a0014 | a0002c0002a0002c0011a0002c0024others(1): Show | a0002c0002t0002a0002c0002t0007a0002c0011t0002others(2): Show | a0002c0002t0002g0075 a0002c0002t0007g0012 a0002c0011t0002g0077 others(2): Show |
5 | 162 | 0.0309 | -34 | c.849 others(53): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KMT5C_chr19_55334876_55353121 | 55338523 | TCTCTCTC others(27): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0106 |
4 | 404 | 0.0099 | -34 | c.-15 others(45): Show |
KMT5C | ENSG00000133247.14 | transcript | ENST00000255613.8 | protein_coding | 1352 | chr19 | TogoVar | |||||||
KNDC1_chr10_133155219_133231412 | 133157048 | GTCTGCTC others(27): Show |
G | upstream_gene_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0284 | 1 | 330 | 0.0030 | -34 | c.-34 others(45): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 3170 | chr10 | TogoVar | |||||||
KNG1_chr3_186712359_186749410 | 186730667 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | NA18612.hp2 NA18940.hp1 NA18942.hp2 others(5): Show |
a0004 | a0004c0003 | a0004c0003t0001a0004c0003t0002a0004c0003t0003others(2): Show | a0004c0003t0001g0004 a0004c0003t0001g0118 a0004c0003t0002g0007 others(4): Show |
8 | 392 | 0.0204 | -34 | c.673 others(49): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KNG1_chr3_186712359_186749410 | 186730669 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG03491.hp2 NA18965.hp2 NA19043.hp2 |
a0001a0002a0003 | a0001c0004a0002c0006a0003c0005 | a0001c0004t0003a0002c0006t0002a0003c0005t0043 | a0001c0004t0003g0120 a0002c0006t0002g0062 a0003c0005t0043g0161 |
3 | 402 | 0.0075 | -34 | c.673 others(49): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KNL1_chr15_40589249_40669342 | 40658523 | ATCTCAAA others(27): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 a0001c0001t0001g0343 |
2 | 368 | 0.0054 | -34 | c.671 others(51): Show |
KNL1 | ENSG00000137812.21 | transcript | ENST00000399668.7 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
KNTC1_chr12_122522249_122631396 | 122579025 | CTTTTTTT others(27): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01074.hp2 others(78): Show |
a0001a0006a0013others(1): Show | a0001c0001a0001c0021a0001c0023others(4): Show | a0001c0001t0001a0001c0021t0001a0001c0023t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(75): Show |
81 | 82 | 0.9878 | -34 | c.284 others(51): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 31/63 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KPNA6_chr1_32103056_32181563 | 32181337 | GACAATAA others(27): Show |
G | downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0137 | 1 | 242 | 0.0041 | -34 | c.*10 others(47): Show |
KPNA6 | ENSG00000025800.14 | transcript | ENST00000373625.8 | protein_coding | 4775 | chr1 | TogoVar | |||||||
KRT24_chr17_40692991_40708752 | 40701723 | GTATATAT others(27): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG02717.hp2 others(9): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0007t0001 | a0003c0003t0001g0017 a0003c0003t0001g0124 a0003c0003t0001g0125 others(2): Show |
12 | 79 | 0.1519 | -34 | c.698 others(48): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
KRT24_chr17_40692991_40708752 | 40701747 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG01943.hp2 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0016 a0002c0002t0001g0110 |
13 | 422 | 0.0308 | -34 | c.698 others(48): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
KRTAP10-12_chr21_44692172_44703044 | 44701718 | GGTAAAGC others(27): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(95): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0001others(4): Show | a0001c0001t0001g0000 a0001c0006t0001g0000 a0001c0007t0001g0000 others(4): Show |
98 | 441 | 0.2222 | -34 | c.*37 others(45): Show |
KRTAP10-12 | ENSG00000189169.8 | transcript | ENST00000400365.3 | protein_coding | 3675 | chr21 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41161766 | GTATGTGT others(27): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02922.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 4 | 418 | 0.0096 | -34 | c.-11 others(45): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1019 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41161770 | GTGTGCGT others(27): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 1 | 418 | 0.0024 | -34 | c.-11 others(45): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1023 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41161772 | GTGCGTGT others(27): Show |
G | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 1 | 418 | 0.0024 | -34 | c.-11 others(45): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1025 | chr17 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117692449 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0106a0001c0001t0118a0001c0001t0127others(1): Show | a0001c0001t0106g0118 a0001c0001t0118g0135 a0001c0001t0127g0189 others(1): Show |
4 | 10 | 0.4000 | -34 | c.987 others(53): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117794421 | ACAACATG others(27): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG02040.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0022a0001c0001t0065a0001c0001t0075others(8): Show | a0001c0001t0022g0117 a0001c0001t0065g0054 a0001c0001t0075g0066 others(8): Show |
11 | 194 | 0.0567 | -34 | c.473 others(53): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117947187 | AAAAGAAA others(27): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0163 | 1 | 172 | 0.0058 | -34 | c.180 others(53): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
KTN1_chr14_55575207_55689579 | 55646427 | CTTCCTTT others(27): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0083 | 1 | 305 | 0.0033 | -34 | c.217 others(51): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KTN1_chr14_55575207_55689579 | 55646466 | TTTCCTTT others(27): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 NA18522.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0189 a0002c0003t0003g0190 a0002c0003t0003g0192 |
3 | 308 | 0.0097 | -34 | c.217 others(51): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 143042583 | GATATATA others(27): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(144): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(73): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(143): Show |
147 | 173 | 0.8497 | -34 | c.*42 others(43): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 14/14 | 426 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
L1TD1_chr1_62189849_62217328 | 62197731 | CTGGGTGC others(27): Show |
C | intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0049 | 1 | 412 | 0.0024 | -34 | c.-11 others(53): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
L2HGDH_chr14_50237434_50317229 | 50316909 | GTTTTTTC others(27): Show |
G | upstream_gene_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0234 | 1 | 358 | 0.0028 | -34 | c.-47 others(45): Show |
L2HGDH | ENSG00000087299.12 | transcript | ENST00000267436.9 | protein_coding | 4681 | chr14 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129298807 | ATGATAAG others(27): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0002 | a0004c0002t0002 | a0004c0002t0002g0021 | 1 | 75 | 0.0133 | -34 | c.303 others(51): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 21/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62321371 | GTCAGTGG others(27): Show |
G | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0118 | 1 | 184 | 0.0054 | -34 | c.649 others(51): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62321397 | CGGGTGGG others(27): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(35): Show |
a0001a0006a0007others(12): Show | a0001c0001a0001c0005a0001c0007others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(19): Show | a0001c0001t0001g0012 a0001c0001t0001g0095 a0001c0001t0001g0101 others(35): Show |
38 | 179 | 0.2123 | -34 | c.649 others(51): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62321428 | GGAGGGGT others(27): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0059 | a0059c0072 | a0059c0072t0001 | a0059c0072t0001g0158 | 1 | 182 | 0.0055 | -34 | c.649 others(51): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62321445 | AGAGGGGT others(27): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG02280.hp2 HG02886.hp2 others(2): Show |
a0003a0025 | a0003c0002a0025c0060 | a0003c0002t0001a0025c0060t0001 | a0003c0002t0001g0039 a0003c0002t0001g0040 a0003c0002t0001g0041 others(2): Show |
5 | 106 | 0.0472 | -34 | c.649 others(51): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMB4_chr7_108018553_108135361 | 108043545 | GTTTTTTT others(27): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00558.hp2 others(38): Show |
a0001a0004a0039 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(38): Show |
41 | 161 | 0.2547 | -34 | c.447 others(51): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 29/33 | chr7 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33324268 | ACAAAAAC others(27): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01891.hp1 HG02257.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0010a0004c0020 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0009 a0001c0001t0006g0007 a0001c0001t0006g0011 others(8): Show |
11 | 106 | 0.1038 | -34 | c.128 others(53): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 10/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33766913 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0018others(4): Show | a0001c0001t0004g0010 a0001c0001t0005g0023 a0001c0001t0018g0067 others(4): Show |
7 | 15 | 0.4667 | -34 | c.-82 others(51): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33785110 | CATATGTG others(27): Show |
C | intron_variant | MODIFIER | HG02896.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0033a0001c0003t0011 | a0001c0001t0033g0110 a0001c0003t0011g0063 |
2 | 107 | 0.0187 | -34 | c.-82 others(53): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar |