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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHX30_chr3_47798138_47855193 | 47829314 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0168 | 1 | 266 | 0.0038 | 15 | c.366 others(30): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DHX30_chr3_47798138_47855193 | 47829314 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 266 | 0.0038 | 15 | c.366 others(30): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DHX30_chr3_47798138_47855193 | 47829315 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 266 | 0.0038 | 15 | c.366 others(30): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 6/21 | chr3 | TogoVar | ||||||
DHX37_chr12_124941826_124994131 | 124991694 | T | TTTATTAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0035 | a0002c0035t0001 | a0002c0035t0001g0314 | 1 | 370 | 0.0027 | 15 | c.-26 others(26): Show |
DHX37 | ENSG00000150990.9 | transcript | ENST00000308736.7 | protein_coding | 2564 | chr12 | TogoVar | ||||||
DHX57_chr2_38792729_38880934 | 38837611 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02109.hp1 others(30): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0002g0133a0001c0001t0002g0200a0001c0001t0002g0215others(28): Show | 33 | 284 | 0.1162 | 15 | c.254 others(32): Show |
DHX57 | ENSG00000163214.21 | transcript | ENST00000457308.6 | protein_coding | 13/23 | chr2 | TogoVar | ||||||
DHX57_chr2_38792729_38880934 | 38853044 | G | GTTTTCTT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(97): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0011others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0002g0003a0001c0001t0002g0040a0001c0001t0002g0041others(95): Show | 100 | 284 | 0.3521 | 15 | c.203 others(33): Show |
DHX57 | ENSG00000163214.21 | transcript | ENST00000457308.6 | protein_coding | 9/23 | chr2 | TogoVar | ||||||
DHX8_chr17_43478975_43530670 | 43511456 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0022others(41): Show | 57 | 354 | 0.1610 | 15 | c.250 others(34): Show |
DHX8 | ENSG00000067596.12 | transcript | ENST00000262415.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DHX9_chr1_182834347_182892982 | 182868520 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG01070.hp1 others(26): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0009a0001c0002t0001g0037others(19): Show | 29 | 276 | 0.1051 | 15 | c.155 others(34): Show |
DHX9 | ENSG00000135829.17 | transcript | ENST00000367549.4 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DIAPH1_chr5_141510021_141624000 | 141566895 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01928.hp2 HG02109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0003a0002c0004t0001 | a0001c0001t0001g0182a0001c0001t0001g0203a0001c0001t0001g0218others(4): Show | 7 | 336 | 0.0208 | 15 | c.248 others(34): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 18/27 | chr5 | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96807944 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 147 | 0.0068 | 15 | c.447 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96939668 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 147 | 0.0068 | 15 | c.132 others(32): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97011891 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 147 | 0.0068 | 15 | c.205 others(36): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97129089 | A | ATCTTTTC others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01243.hp1 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0020a0001c0001t0001g0063a0001c0001t0001g0074others(12): Show | 15 | 147 | 0.1020 | 15 | c.259 others(36): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97129146 | C | CTTTTCTT others(8): Show |
intron_variant | MODIFIER | HG02056.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0037 | 2 | 147 | 0.0136 | 15 | c.259 others(36): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97145282 | C | CAGTAGTA others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01891.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0138a0001c0001t0003g0006a0001c0001t0003g0084others(4): Show | 7 | 147 | 0.0476 | 15 | c.271 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97240605 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0025a0001c0001t0012g0003 | 2 | 147 | 0.0136 | 15 | c.272 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97252716 | G | GTGTTTTG others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG00738.hp1 others(76): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0018others(76): Show | 79 | 147 | 0.5374 | 15 | c.284 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97253293 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 147 | 0.0068 | 15 | c.284 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97253293 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0019a0001c0001t0001g0033a0001c0001t0001g0042others(44): Show | 47 | 147 | 0.3197 | 15 | c.284 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97300931 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 147 | 0.0068 | 15 | c.284 others(36): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH3_chr13_59660583_60168928 | 59802667 | A | ATTATTAT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01261.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0156a0002c0003t0002g0157 | 2 | 208 | 0.0096 | 15 | c.316 others(34): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59802667 | A | ATTATTTT others(8): Show |
intron_variant | MODIFIER | NA18990.hp2 NA19064.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0040a0002c0004t0001g0057 | 2 | 208 | 0.0096 | 15 | c.316 others(34): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59993702 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105a0001c0001t0002g0137 | 2 | 208 | 0.0096 | 15 | c.101 others(34): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 9/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60014969 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02258.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0135a0001c0001t0002g0137a0001c0001t0003g0001others(6): Show | 9 | 208 | 0.0433 | 15 | c.771 others(30): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 7/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60052959 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(27): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0003c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0125others(27): Show | 30 | 208 | 0.1442 | 15 | c.496 others(34): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 4/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60105099 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03195.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0003a0001c0010t0003 | a0001c0001t0003g0005a0001c0010t0003g0007 | 2 | 208 | 0.0096 | 15 | c.390 others(32): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 3/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60138785 | G | GAGGGAAG others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01981.hp2 HG02132.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(1): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(11): Show | 14 | 208 | 0.0673 | 15 | c.181 others(32): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | ||||||
DICER1_chr14_95081228_95162529 | 95119621 | A | ACAAGCTG others(8): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 306 | 0.0033 | 15 | c.137 others(34): Show |
DICER1 | ENSG00000100697.17 | transcript | ENST00000343455.8 | protein_coding | 8/26 | chr14 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(8): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0006 | a0006c0008 | a0006c0008t0005 | a0006c0008t0005g0122 | 1 | 320 | 0.0031 | 15 | c.*39 others(26): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62904780 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG01258.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0025a0003c0003t0001g0227a0003c0003t0001g0228others(3): Show | 7 | 320 | 0.0219 | 15 | c.158 others(34): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 6/15 | chr20 | TogoVar | ||||||
DIMT1_chr5_62382254_62408905 | 62389485 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0004a0001c0001t0002g0011a0001c0001t0002g0015others(27): Show | 46 | 404 | 0.1139 | 15 | c.900 others(30): Show |
DIMT1 | ENSG00000086189.11 | transcript | ENST00000199320.9 | protein_coding | 11/11 | chr5 | TogoVar | ||||||
DIMT1_chr5_62382254_62408905 | 62396139 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00639.hp1 others(109): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0040a0001c0001t0001g0043others(51): Show | 112 | 404 | 0.2772 | 15 | c.447 others(32): Show |
DIMT1 | ENSG00000086189.11 | transcript | ENST00000199320.9 | protein_coding | 6/11 | chr5 | TogoVar | ||||||
DIO1_chr1_53889187_53916086 | 53893892 | T | TTAAGTGT others(8): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 452 | 0.0022 | 15 | c.-31 others(24): Show |
DIO1 | ENSG00000211452.12 | transcript | ENST00000361921.8 | protein_coding | 294 | chr1 | TogoVar | ||||||
DIO1_chr1_53889187_53916086 | 53897365 | A | ACTCAGAA others(8): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 452 | 0.0022 | 15 | c.337 others(32): Show |
DIO1 | ENSG00000211452.12 | transcript | ENST00000361921.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46461271 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00609.hp1 others(60): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0103others(60): Show | 63 | 374 | 0.1685 | 15 | c.91+ others(30): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46464817 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 374 | 0.0027 | 15 | c.91+ others(30): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46464844 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0006a0001c0012a0001c0023 | a0001c0006t0004a0001c0012t0012a0001c0023t0004 | a0001c0006t0004g0145a0001c0012t0012g0144a0001c0023t0004g0168others(1): Show | 4 | 374 | 0.0107 | 15 | c.91+ others(30): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46477543 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 374 | 0.0027 | 15 | c.92- others(30): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46477570 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 374 | 0.0027 | 15 | c.92- others(30): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46477574 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA19058.hp1 NA19064.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0003a0001c0004t0001g0118 | 2 | 374 | 0.0054 | 15 | c.92- others(30): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46495179 | T | TTTCTCTT others(8): Show |
intron_variant | MODIFIER | HG03239.hp2 NA18954.hp1 NA19005.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0003a0001c0004t0001others(1): Show | a0001c0001t0002g0014a0001c0001t0002g0254a0001c0001t0002g0258others(4): Show | 7 | 374 | 0.0187 | 15 | c.284 others(32): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46495235 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 NA19005.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0362a0001c0003t0003g0370 | 2 | 374 | 0.0054 | 15 | c.284 others(32): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46495240 | T | TTCTCTTC others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0013a0001c0020t0002 | a0001c0001t0013g0136a0001c0020t0002g0141 | 2 | 374 | 0.0054 | 15 | c.284 others(32): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46495244 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0147 | 1 | 374 | 0.0027 | 15 | c.284 others(32): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46506724 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0021a0001c0004t0001g0023 | 2 | 374 | 0.0054 | 15 | c.784 others(32): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46506724 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03130.hp2 HG03654.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0004t0002a0001c0008t0002others(2): Show | a0001c0002t0001g0070a0001c0002t0001g0071a0001c0002t0001g0075others(5): Show | 8 | 374 | 0.0214 | 15 | c.784 others(32): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46516488 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18993.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0005t0010 | a0001c0003t0003g0304a0001c0005t0010g0295 | 2 | 374 | 0.0054 | 15 | c.110 others(34): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46573645 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0157 | 1 | 374 | 0.0027 | 15 | c.*60 others(26): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3631 | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50537114 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19002.hp1 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0133a0001c0001t0001g0135a0001c0001t0001g0150others(1): Show | 4 | 284 | 0.0141 | 15 | c.100 others(34): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50593707 | C | CCTCCTCT others(8): Show |
intron_variant | MODIFIER | HG02040.hp2 NA19005.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0040a0001c0003t0002g0042 | 2 | 284 | 0.0070 | 15 | c.101 others(34): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |