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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNMB2_chr3_178531436_178849429 | 178758772 | T | TATATATA others(278): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01943.hp2 HG03710.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0017 a0001c0002t0001g0009 a0001c0002t0001g0030 others(1): Show |
4 | 232 | 0.0172 | 285 | c.-67 others(304): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758772 | T | TATATATA others(278): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145 | 1 | 232 | 0.0043 | 285 | c.-67 others(304): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758772 | T | TATATATA others(278): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 232 | 0.0043 | 285 | c.-67 others(304): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758772 | T | TATATATA others(278): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0186 | 1 | 232 | 0.0043 | 285 | c.-67 others(304): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB4_chr12_70361290_70439292 | 70395138 | T | TCCAGTAG others(278): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0285 | 1 | 378 | 0.0027 | 285 | c.337 others(302): Show |
KCNMB4 | ENSG00000135643.5 | transcript | ENST00000258111.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45228775 | C | CCCCCAAC others(278): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0287 | 1 | 398 | 0.0025 | 285 | c.64+ others(302): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIF26B_chr1_245149985_245714432 | 245600127 | T | TTCCCGGG others(278): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02258.hp2 HG02622.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0004a0001c0014others(3): Show | a0001c0002t0001a0001c0004t0014a0001c0014t0001others(3): Show | a0001c0002t0001g0125 a0001c0004t0014g0077 a0001c0014t0001g0100 others(3): Show |
6 | 160 | 0.0375 | 285 | c.135 others(304): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245600127 | T | TTCCCGGG others(278): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG02109.hp2 others(5): Show |
a0001a0003a0022 | a0001c0001a0001c0002a0001c0041others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0005others(3): Show | a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0002t0003g0027 others(5): Show |
8 | 160 | 0.0500 | 285 | c.135 others(304): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52408975 | G | GCTCCCTC others(278): Show |
upstream_gene_variant | MODIFIER | NA18981.hp1 | a0017 | a0017c0013 | a0017c0013t0003 | a0017c0013t0003g0037 | 1 | 370 | 0.0027 | 285 | c.-26 others(296): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2641 | chr12 | TogoVar | |||||||
LDAH_chr2_20679031_20828101 | 20694459 | T | TCTGAGCC others(278): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 258 | 0.0039 | 285 | c.786 others(302): Show |
LDAH | ENSG00000118961.15 | transcript | ENST00000237822.8 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(278): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0044 | a0001c0044t0001 | a0001c0044t0001g0097 | 1 | 414 | 0.0024 | 285 | c.171 others(302): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65855620 | A | AGAGAGGG others(278): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02622.hp1 HG02965.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0075 others(6): Show |
9 | 104 | 0.0865 | 285 | c.313 others(306): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65855620 | A | AGAGAGGG others(278): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0067 | 1 | 104 | 0.0096 | 285 | c.313 others(306): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19238065 | A | ATATAATT others(278): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0018 | a0018c0108 | a0018c0108t0002 | a0018c0108t0002g0145 | 1 | 152 | 0.0066 | 285 | c.299 others(306): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19238065 | A | ATATAATT others(278): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01256.hp2 HG02055.hp1 others(6): Show |
a0001a0017a0023others(6): Show | a0001c0052a0017c0017a0023c0016others(6): Show | a0001c0052t0001a0017c0017t0001a0023c0016t0002others(6): Show | a0001c0052t0001g0116 a0017c0017t0001g0107 a0023c0016t0002g0083 others(6): Show |
9 | 152 | 0.0592 | 285 | c.299 others(306): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137111192 | A | AGGAGCAG others(278): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0016 | a0016c0029 | a0016c0029t0002 | a0016c0029t0002g0139 | 1 | 404 | 0.0025 | 285 | c.*26 others(296): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 2010 | chr9 | TogoVar | |||||||
MAN1B1_chr9_137081985_137114183 | 137111265 | C | CAGGCGAG others(278): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 HG02083.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0198 |
3 | 404 | 0.0074 | 285 | c.*26 others(296): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 2083 | chr9 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19478060 | G | GAGGGGGA others(278): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 163 | 0.0061 | 285 | c.525 others(302): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(278): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG00735.hp2 others(45): Show |
a0002a0006a0008others(16): Show | a0002c0003a0002c0090a0006c0010others(24): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(27): Show | a0002c0003t0001g0176 a0002c0003t0002g0002 a0002c0003t0002g0064 others(43): Show |
48 | 280 | 0.1714 | 285 | c.641 others(300): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MPG_chr16_73225_90846 | 81570 | G | GCACTGAC others(278): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 a0001c0002t0001g0095 |
2 | 442 | 0.0045 | 285 | c.301 others(302): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81572 | A | ACTGACCC others(278): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 442 | 0.0023 | 285 | c.301 others(302): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81627 | A | ACGCTGAC others(278): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0272 | 1 | 442 | 0.0023 | 285 | c.301 others(302): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81723 | G | GCCTCCTG others(278): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02738.hp2 NA19009.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0250 a0001c0001t0001g0262 |
6 | 442 | 0.0136 | 285 | c.301 others(302): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81747 | A | ACCCCTTC others(278): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 442 | 0.0023 | 285 | c.301 others(302): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81826 | T | TCTCCGGG others(278): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 442 | 0.0023 | 285 | c.301 others(302): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81826 | T | TCTCCGGG others(278): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02965.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 2 | 442 | 0.0045 | 285 | c.301 others(302): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81857 | G | GCTGACCC others(278): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 442 | 0.0023 | 285 | c.301 others(302): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81883 | C | CCTCCAGG others(278): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18950.hp2 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0229 |
3 | 442 | 0.0068 | 285 | c.301 others(302): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPG_chr16_73225_90846 | 82146 | G | GCCCCTTC others(278): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 442 | 0.0023 | 285 | c.301 others(300): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPG_chr16_73225_90846 | 82225 | T | TCTCCGGG others(278): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 442 | 0.0023 | 285 | c.301 others(300): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPG_chr16_73225_90846 | 82247 | G | GCTCCCCA others(278): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 442 | 0.0023 | 285 | c.301 others(300): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500278 | C | CGGTGGTG others(278): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0007t0006 | a0001c0001t0006g0026 a0001c0007t0006g0190 |
2 | 250 | 0.0080 | 285 | c.748 others(302): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MSI2_chr17_57251523_57689689 | 57284613 | T | TAAAAAAG others(278): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0141 | 1 | 168 | 0.0060 | 285 | c.312 others(304): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767828 | G | GGTGCGTG others(278): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0266 | 1 | 388 | 0.0026 | 285 | c.159 others(302): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTNR1A_chr4_186528655_186560567 | 186547151 | C | CACACCAC others(278): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0112 others(3): Show |
8 | 396 | 0.0202 | 285 | c.184 others(302): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195775695 | C | CCATACCT others(278): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01981.hp1 |
a0058a0065 | a0058c0132a0065c0133 | a0058c0132t0002a0065c0133t0002 | a0058c0132t0002g0016 a0065c0133t0002g0009 |
2 | 249 | 0.0080 | 285 | c.129 others(306): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195775935 | T | TCATACCT others(278): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0005 | a0005c0018 | a0005c0018t0002 | a0005c0018t0002g0021 | 1 | 249 | 0.0040 | 285 | c.129 others(306): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776385 | C | CCATACCT others(278): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02155.hp2 HG02602.hp1 others(1): Show |
a0006a0057a0083 | a0006c0007a0057c0186a0083c0184 | a0006c0007t0003a0057c0186t0003a0083c0184t0003 | a0006c0007t0003g0154 a0006c0007t0003g0209 a0057c0186t0003g0215 others(1): Show |
4 | 249 | 0.0161 | 285 | c.129 others(306): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776385 | C | CCATACCT others(278): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0047 | a0047c0185 | a0047c0185t0003 | a0047c0185t0003g0205 | 1 | 249 | 0.0040 | 285 | c.129 others(306): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776744 | C | CCCATACC others(278): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0091 | a0091c0195 | a0091c0195t0003 | a0091c0195t0003g0213 | 1 | 249 | 0.0040 | 285 | c.129 others(306): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776746 | C | CATACCTT others(278): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 |
a0062a0075 | a0062c0200a0075c0201 | a0062c0200t0008a0075c0201t0009 | a0062c0200t0008g0222 a0075c0201t0009g0224 |
2 | 249 | 0.0080 | 285 | c.129 others(306): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776747 | A | ATACCTTC others(278): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0065 | a0065c0133 | a0065c0133t0002 | a0065c0133t0002g0009 | 1 | 249 | 0.0040 | 285 | c.129 others(306): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776970 | C | CCATACCT others(278): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01069.hp2 others(14): Show |
a0005a0007a0042others(7): Show | a0005c0018a0005c0019a0007c0003others(8): Show | a0005c0018t0002a0005c0019t0002a0007c0003t0002others(8): Show | a0005c0018t0002g0013 a0005c0018t0002g0021 a0005c0019t0002g0011 others(14): Show |
17 | 249 | 0.0683 | 285 | c.129 others(306): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777645 | T | TCATACCT others(278): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0062 | a0062c0200 | a0062c0200t0008 | a0062c0200t0008g0222 | 1 | 249 | 0.0040 | 285 | c.129 others(304): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777689 | T | TCCATACC others(278): Show |
intron_variant | MODIFIER | HG01256.hp1 HG03017.hp1 HG03688.hp1 others(2): Show |
a0024a0052a0113others(1): Show | a0024c0022a0052c0188a0113c0191others(1): Show | a0024c0022t0003a0052c0188t0003a0113c0191t0011others(1): Show | a0024c0022t0003g0219 a0024c0022t0003g0221 a0052c0188t0003g0220 others(2): Show |
5 | 249 | 0.0201 | 285 | c.129 others(304): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110690669 | T | TATATATA others(278): Show |
intron_variant | MODIFIER | HG03041.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0009 a0001c0001t0009g0008 |
2 | 326 | 0.0061 | 285 | c.358 others(302): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(278): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 384 | 0.0026 | 285 | c.-41 others(296): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NDUFB1_chr14_92111123_92126706 | 92120589 | G | GTCCGCCC others(278): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0018 others(13): Show |
75 | 442 | 0.1697 | 285 | c.-6+ others(300): Show |
NDUFB1 | ENSG00000183648.11 | transcript | ENST00000605997.6 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
NDUFB1_chr14_92111123_92126706 | 92120589 | G | GTCCGCCC others(278): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02055.hp1 HG02258.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0036 others(7): Show |
20 | 442 | 0.0453 | 285 | c.-6+ others(300): Show |
NDUFB1 | ENSG00000183648.11 | transcript | ENST00000605997.6 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
NDUFB9_chr8_124534123_124554979 | 124544796 | T | TAAGAAAT others(278): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 392 | 0.0026 | 285 | c.294 others(302): Show |
NDUFB9 | ENSG00000147684.10 | transcript | ENST00000276689.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |