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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DVL1_chr1_1330278_1354418 | 1339207 | AGGCGGCC others(4): Show |
A | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 344 | 0.0029 | -11 | c.120 others(26): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 11/14 | chr1 | TogoVar | ||||||
DVL1_chr1_1330278_1354418 | 1348916 | CTTAAAGA others(4): Show |
C | frameshift_variant | HIGH | HG01517.hp2 | a0009 | a0009c0009 | a0009c0009t0003 | a0009c0009t0003g0040 | 1 | 344 | 0.0029 | -11 | c.139 others(18): Show |
p.Phe others(4): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 1/15 | 502/3305 | 139/2088 | 47/695 | chr1 | TogoVar | ||
DVL1_chr1_1330278_1354418 | 1349512 | CGCCCCGC others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG02615.hp1 others(6): Show |
a0001a0002 | a0001c0003a0001c0017a0001c0019others(1): Show | a0001c0003t0003a0001c0017t0008a0001c0019t0003others(1): Show | a0001c0003t0003g0010a0001c0017t0008g0071a0001c0019t0003g0067others(2): Show | 9 | 344 | 0.0262 | -11 | c.-45 others(20): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 95 | chr1 | TogoVar | ||||||
DVL3_chr3_184150377_184178614 | 184153014 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01433.hp1 HG02451.hp1 HG02572.hp1 others(9): Show |
a0001a0004a0006 | a0001c0001a0004c0006a0006c0012 | a0001c0001t0005a0001c0001t0006a0001c0001t0013others(3): Show | a0001c0001t0005g0010a0001c0001t0005g0042a0001c0001t0005g0046others(5): Show | 12 | 400 | 0.0300 | -11 | c.-26 others(22): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 2362 | chr3 | TogoVar | ||||||
DVL3_chr3_184150377_184178614 | 184174585 | GAAAAAAA others(4): Show |
G | downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 400 | 0.0025 | -11 | c.*38 others(22): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 972 | chr3 | TogoVar | ||||||
DYDC1_chr10_80331105_80361755 | 80332435 | CAAATGGG others(4): Show |
C | downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 366 | 0.0027 | -11 | c.*37 others(22): Show |
DYDC1 | ENSG00000170788.14 | transcript | ENST00000372202.6 | protein_coding | 3669 | chr10 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49080793 | TGCCGGGC others(4): Show |
T | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 290 | 0.0035 | -11 | c.202 others(32): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49100129 | CCTGGAAG others(4): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0010 | a0002c0010t0023 | a0002c0010t0023g0009 | 1 | 290 | 0.0035 | -11 | c.191 others(30): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 16/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49186920 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(57): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0187a0001c0001t0001g0219a0001c0001t0001g0220others(57): Show | 60 | 290 | 0.2069 | -11 | c.162 others(32): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49195916 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0239 | 1 | 290 | 0.0035 | -11 | c.162 others(32): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49219767 | AGAGCTAT others(4): Show |
A | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 290 | 0.0035 | -11 | c.146 others(32): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 13/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49232603 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(74): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0001g0253others(74): Show | 77 | 290 | 0.2655 | -11 | c.146 others(32): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 13/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49289404 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG02647.hp1 others(7): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0007a0001c0001t0037a0001c0001t0038others(1): Show | a0001c0001t0007g0002a0001c0001t0007g0105a0001c0001t0007g0106others(7): Show | 10 | 290 | 0.0345 | -11 | c.764 others(28): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49292592 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0273 | 1 | 290 | 0.0035 | -11 | c.764 others(28): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49313462 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02735.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0005a0005c0006t0006 | a0001c0001t0005g0261a0005c0006t0006g0157 | 2 | 290 | 0.0069 | -11 | c.763 others(30): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49317590 | TCTCTCTC others(4): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0242 | 1 | 290 | 0.0035 | -11 | c.763 others(30): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49324138 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0035 | 1 | 290 | 0.0035 | -11 | c.763 others(28): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49433011 | CCTACAAG others(4): Show |
C | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 290 | 0.0035 | -11 | c.-53 others(28): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | ||||||
DYNAP_chr18_54586245_54604493 | 54600119 | TATATATA others(4): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 358 | 0.0028 | -11 | c.*19 others(22): Show |
DYNAP | ENSG00000178690.4 | transcript | ENST00000648945.2 | protein_coding | 627 | chr18 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 101984932 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0031 | a0001c0031t0063 | a0001c0031t0063g0276 | 1 | 280 | 0.0036 | -11 | c.146 others(28): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 7/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DYNC1I1_chr7_95767554_96103424 | 96100517 | TCAAAAGA others(4): Show |
T | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033a0001c0003t0001g0034 | 2 | 230 | 0.0087 | -11 | c.*29 others(22): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 2094 | chr7 | TogoVar | ||||||
DYNC1I2_chr2_171682469_171755158 | 171738196 | GTGGCACA others(4): Show |
G | intron_variant | MODIFIER | NA18963.hp2 NA19084.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0070a0001c0001t0001g0163 | 3 | 334 | 0.0090 | -11 | c.153 others(30): Show |
DYNC1I2 | ENSG00000077380.16 | transcript | ENST00000397119.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYNC1LI1_chr3_32520974_32575858 | 32524184 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0284 | 1 | 336 | 0.0030 | -11 | c.*26 others(22): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 1789 | chr3 | TogoVar | ||||||
DYNC1LI1_chr3_32520974_32575858 | 32537916 | TTATATAT others(4): Show |
T | intron_variant | MODIFIER | HG03017.hp2 HG03688.hp1 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0002a0006c0010t0002 | a0001c0001t0002g0213a0006c0010t0002g0204 | 2 | 336 | 0.0060 | -11 | c.739 others(26): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
DYNC1LI2_chr16_66715893_66756609 | 66738883 | AAACACAC others(4): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 340 | 0.0029 | -11 | c.530 others(28): Show |
DYNC1LI2 | ENSG00000135720.13 | transcript | ENST00000258198.7 | protein_coding | 4/12 | chr16 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103412142 | AGTTAAAT others(4): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(191): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0005a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(58): Show | a0001c0001t0001g0101a0001c0001t0001g0108a0001c0001t0001g0122others(191): Show | 194 | 262 | 0.7405 | -11 | c.123 others(34): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 84/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103451324 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(17): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0010a0002c0032others(3): Show | a0001c0001t0001a0001c0010t0001a0002c0032t0001others(3): Show | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0109others(17): Show | 20 | 262 | 0.0763 | -11 | c.124 others(32): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 85/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103459308 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 262 | 0.0038 | -11 | c.126 others(32): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 87/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103483022 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01258.hp2 HG02572.hp1 HG03225.hp2 |
a0001a0008a0025 | a0001c0005a0008c0048a0025c0043 | a0001c0005t0001a0008c0048t0001a0025c0043t0001 | a0001c0005t0001g0100a0008c0048t0001g0246a0025c0043t0001g0068 | 3 | 262 | 0.0115 | -11 | c.*37 others(22): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 3160 | chr11 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158855939 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02615.hp2 NA19240.hp1 |
a0008a0009 | a0008c0008a0009c0007 | a0008c0008t0003a0008c0008t0020a0009c0007t0003 | a0008c0008t0003g0226a0008c0008t0020g0228a0009c0007t0003g0227 | 3 | 274 | 0.0110 | -11 | c.-79 others(20): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 618 | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158927834 | GAGCCACC others(4): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0096a0002c0002t0001g0111 | 2 | 274 | 0.0073 | -11 | c.248 others(28): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158943694 | AGCATGTT others(4): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02055.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0019a0003c0027 | a0001c0001t0012a0002c0019t0015a0003c0027t0022 | a0001c0001t0012g0223a0001c0001t0012g0224a0002c0019t0015g0043others(1): Show | 4 | 274 | 0.0146 | -11 | c.300 others(30): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158947451 | GTGTCTGC others(4): Show |
G | downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 274 | 0.0037 | -11 | c.*16 others(22): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 1263 | chr7 | TogoVar | ||||||
DYNLL2_chr17_58078419_58100542 | 58091364 | CCTGTAGC others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01071.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0023others(1): Show | a0001c0001t0003g0002a0001c0001t0003g0019a0001c0001t0008g0002others(2): Show | 32 | 306 | 0.1046 | -11 | c.*20 others(22): Show |
DYNLL2 | ENSG00000264364.3 | transcript | ENST00000579991.3 | protein_coding | 3/3 | 2088 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
DYNLRB1_chr20_34511422_34545958 | 34528311 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 384 | 0.0026 | -11 | c.79+ others(26): Show |
DYNLRB1 | ENSG00000125971.18 | transcript | ENST00000357156.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37417495 | TTTTTATT others(4): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00609.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0022others(11): Show | a0001c0001t0007g0135a0001c0001t0007g0137a0001c0001t0007g0139others(22): Show | 25 | 350 | 0.0714 | -11 | c.-76 others(28): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37417529 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00639.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0116a0001c0001t0118 | a0001c0001t0011g0003a0001c0001t0011g0337a0001c0001t0011g0338others(3): Show | 7 | 350 | 0.0200 | -11 | c.-76 others(28): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37444355 | CTGCAGGA others(4): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0155 | a0001c0001t0023g0013a0001c0001t0023g0015a0001c0001t0023g0016others(1): Show | 4 | 350 | 0.0114 | -11 | c.10+ others(28): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71582106 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0073 | a0001c0073t0001 | a0001c0073t0001g0005 | 1 | 192 | 0.0052 | -11 | c.334 others(30): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 30/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71649137 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0015a0001c0051a0001c0073 | a0001c0015t0001a0001c0051t0002a0001c0073t0001 | a0001c0015t0001g0003a0001c0015t0001g0027a0001c0051t0002g0015others(1): Show | 4 | 192 | 0.0208 | -11 | c.450 others(30): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 41/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71582106 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0078 | a0001c0078t0001 | a0001c0078t0001g0199 | 1 | 208 | 0.0048 | -11 | c.340 others(30): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71649137 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03225.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0004a0001c0015a0001c0052others(1): Show | a0001c0004t0001a0001c0015t0001a0001c0052t0004others(1): Show | a0001c0004t0001g0030a0001c0015t0001g0034a0001c0015t0001g0207others(2): Show | 5 | 208 | 0.0240 | -11 | c.462 others(30): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYTN_chr2_206646621_206723396 | 206660007 | TTTTTTTC others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
a0002a0003a0004others(6): Show | a0002c0002a0003c0003a0004c0005others(6): Show | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(7): Show | a0002c0002t0001g0007a0002c0002t0001g0018a0002c0002t0001g0027others(94): Show | 99 | 382 | 0.2592 | -11 | c.163 others(30): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 11/11 | chr2 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18381865 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp1 HG02976.hp2 HG03225.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0005 | a0001c0002t0001a0001c0006t0001a0002c0005t0001 | a0001c0002t0001g0143a0001c0002t0001g0175a0001c0002t0001g0241others(2): Show | 5 | 374 | 0.0134 | -11 | c.*25 others(22): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 1501 | chr20 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18434545 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG02922.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0015 | a0001c0001t0009a0001c0007t0004a0001c0015t0010 | a0001c0001t0009g0179a0001c0007t0004g0234a0001c0015t0010g0178others(1): Show | 4 | 374 | 0.0107 | -11 | c.805 others(26): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 8/20 | chr20 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95647000 | GAAAAAGA others(4): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02818.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058a0001c0001t0002g0059a0001c0001t0002g0060others(2): Show | 5 | 382 | 0.0131 | -11 | c.-31 others(22): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 2295 | chr13 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108594412 | CCCCTCCC others(4): Show |
C | intron_variant | MODIFIER | HG01975.hp2 HG02257.hp2 HG02818.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0210a0002c0003t0001g0212a0002c0003t0001g0213others(4): Show | 7 | 318 | 0.0220 | -11 | c.-73 others(28): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
E2F3_chr6_20396879_20498714 | 20435073 | AGAATATT others(4): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007a0001c0001t0004g0008 | 2 | 336 | 0.0060 | -11 | c.393 others(30): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
E2F3_chr6_20396879_20498714 | 20435974 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0005 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0015others(224): Show | 229 | 336 | 0.6816 | -11 | c.393 others(30): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
E2F4_chr16_67187155_67203918 | 67200405 | CTGGTCCT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp1 HG03139.hp2 HG03540.hp2 |
a0001a0003a0007 | a0001c0001a0003c0004a0007c0008 | a0001c0001t0003a0003c0004t0003a0007c0008t0003 | a0001c0001t0003g0018a0003c0004t0003g0012a0007c0008t0003g0012 | 3 | 320 | 0.0094 | -11 | c.*22 others(22): Show |
E2F4 | ENSG00000205250.9 | transcript | ENST00000379378.8 | protein_coding | 1488 | chr16 | TogoVar |