view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3953): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01981.hp1 HG02135.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0326a0001c0001t0005g0328a0001c0001t0005g0330others(3): Show | 6 | 390 | 0.0154 | 3960 | c.859 others(3977): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3953): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0332 | 1 | 390 | 0.0026 | 3960 | c.859 others(3977): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3953): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0230a0001c0001t0006g0231 | 2 | 390 | 0.0051 | 3960 | c.859 others(3977): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3953): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0221 | 1 | 390 | 0.0026 | 3960 | c.859 others(3977): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(3953): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0038 | a0001c0038t0041 | a0001c0038t0041g0047 | 1 | 104 | 0.0096 | 3960 | c.477 others(3981): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262289 | T | TAGATCTA others(3953): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0044 | 1 | 290 | 0.0035 | 3960 | c.-95 others(3979): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TAB1_chr22_39394780_39436882 | 39423757 | G | GTAGCATA others(3953): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0277 | 1 | 312 | 0.0032 | 3960 | c.921 others(3977): Show |
TAB1 | ENSG00000100324.14 | transcript | ENST00000216160.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3954): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0229 | 1 | 390 | 0.0026 | 3961 | c.859 others(3978): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3954): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0327 | 1 | 390 | 0.0026 | 3961 | c.859 others(3978): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3954): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0223 | 1 | 390 | 0.0026 | 3961 | c.859 others(3978): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3954): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0086 | 1 | 366 | 0.0027 | 3961 | c.641 others(3976): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3954): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03471.hp1 |
a0005 | a0005c0012 | a0005c0012t0004 | a0005c0012t0004g0020a0005c0012t0004g0021 | 2 | 366 | 0.0055 | 3961 | c.641 others(3976): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3954): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02970.hp1 others(4): Show |
a0005 | a0005c0012a0005c0017a0005c0020others(1): Show | a0005c0012t0001a0005c0017t0001a0005c0020t0001others(1): Show | a0005c0012t0001g0028a0005c0017t0001g0018a0005c0017t0001g0019others(4): Show | 7 | 366 | 0.0191 | 3961 | c.641 others(3976): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3954): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0017 | a0017c0025 | a0017c0025t0004 | a0017c0025t0004g0022 | 1 | 366 | 0.0027 | 3961 | c.641 others(3976): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3954): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0088 | 1 | 366 | 0.0027 | 3961 | c.641 others(3976): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3954): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03098.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0221a0003c0003t0001g0232 | 2 | 366 | 0.0055 | 3961 | c.641 others(3976): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3954): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007 | 1 | 336 | 0.0030 | 3961 | c.112 others(3978): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3954): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 336 | 0.0030 | 3961 | c.112 others(3978): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3955): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG00741.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006a0001c0001t0006g0225a0001c0001t0006g0226others(1): Show | 6 | 390 | 0.0154 | 3962 | c.859 others(3979): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3955): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0224 | 1 | 390 | 0.0026 | 3962 | c.859 others(3979): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833525 | A | AAAGCTCC others(3955): Show |
intron_variant | MODIFIER | NA19057.hp2 NA19067.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0102a0003c0003t0002g0103 | 2 | 366 | 0.0055 | 3962 | c.641 others(3977): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3955): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0014 | a0004c0014t0002 | a0004c0014t0002g0087 | 1 | 366 | 0.0027 | 3962 | c.641 others(3977): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3955): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00733.hp2 others(62): Show |
a0003a0004a0006others(3): Show | a0003c0003a0003c0007a0003c0013others(9): Show | a0003c0003t0001a0003c0003t0002a0003c0007t0001others(12): Show | a0003c0003t0001g0075a0003c0003t0001g0229a0003c0003t0002g0005others(55): Show | 65 | 366 | 0.1776 | 3962 | c.641 others(3977): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3955): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0012 | a0005c0012t0004 | a0005c0012t0004g0023 | 1 | 366 | 0.0027 | 3962 | c.641 others(3977): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3955): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0037 | 2 | 336 | 0.0060 | 3962 | c.112 others(3979): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(3955): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 167 | 0.0060 | 3962 | c.*53 others(3973): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3956): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0228 | 1 | 390 | 0.0026 | 3963 | c.859 others(3980): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3956): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0329 | 1 | 390 | 0.0026 | 3963 | c.859 others(3980): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3956): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0222 | 1 | 390 | 0.0026 | 3963 | c.859 others(3980): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(3956): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 370 | 0.0027 | 3963 | c.891 others(3978): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833525 | A | AAAGCTCC others(3956): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0101 | 1 | 366 | 0.0027 | 3963 | c.641 others(3978): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3956): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02055.hp2 HG02717.hp2 others(4): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0003t0002a0003c0007t0001 | a0003c0003t0001g0222a0003c0003t0002g0008a0003c0003t0002g0059others(3): Show | 7 | 366 | 0.0191 | 3963 | c.641 others(3978): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3956): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0066 | 1 | 366 | 0.0027 | 3963 | c.641 others(3978): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3956): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0218a0008c0018t0001g0219 | 2 | 366 | 0.0055 | 3963 | c.641 others(3978): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3956): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG02965.hp2 others(1): Show |
a0007a0008 | a0007c0016a0008c0018 | a0007c0016t0003a0008c0018t0001 | a0007c0016t0003g0319a0007c0016t0003g0321a0007c0016t0003g0322others(1): Show | 4 | 366 | 0.0109 | 3963 | c.641 others(3978): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3956): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG02074.hp2 others(9): Show |
a0003a0004a0011 | a0003c0003a0004c0006a0004c0014others(1): Show | a0003c0003t0001a0004c0006t0001a0004c0006t0006others(2): Show | a0003c0003t0001g0231a0004c0006t0001g0012a0004c0006t0001g0013others(7): Show | 12 | 366 | 0.0328 | 3963 | c.641 others(3978): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3956): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0036 | 1 | 251 | 0.0040 | 3963 | c.-45 others(3972): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3956): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 336 | 0.0030 | 3963 | c.112 others(3980): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3956): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0036 | 2 | 336 | 0.0060 | 3963 | c.112 others(3980): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(3957): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020 | 1 | 370 | 0.0027 | 3964 | c.891 others(3979): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3957): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0013 | a0013c0032 | a0013c0032t0001 | a0013c0032t0001g0220 | 1 | 366 | 0.0027 | 3964 | c.641 others(3979): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3957): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0007 | a0007c0016 | a0007c0016t0003 | a0007c0016t0003g0320 | 1 | 366 | 0.0027 | 3964 | c.641 others(3979): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3957): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0224 | 1 | 366 | 0.0027 | 3964 | c.641 others(3979): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3957): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 336 | 0.0030 | 3964 | c.112 others(3981): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3958): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0161 | 1 | 186 | 0.0054 | 3965 | c.723 others(3982): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3958): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 336 | 0.0030 | 3965 | c.112 others(3982): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3958): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 336 | 0.0030 | 3965 | c.112 others(3982): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(3959): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0053 | 1 | 332 | 0.0030 | 3966 | c.179 others(3981): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3959): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(16): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004a0003c0004t0001g0011a0003c0004t0001g0203others(12): Show | 19 | 366 | 0.0519 | 3966 | c.641 others(3981): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(3959): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0046 | 1 | 294 | 0.0034 | 3966 | c.153 others(3985): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar |