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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHX57_chr2_38792729_38880934 | 38837611 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00621.hp1 others(21): Show |
a0002a0006a0013 | a0002c0002a0006c0014a0013c0016 | a0002c0002t0001a0006c0014t0004a0013c0016t0001 | a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0016 others(21): Show |
24 | 284 | 0.0845 | 20 | c.254 others(37): Show |
DHX57 | ENSG00000163214.21 | transcript | ENST00000457308.6 | protein_coding | 13/23 | chr2 | TogoVar | |||||||
DHX57_chr2_38792729_38880934 | 38853044 | G | GTTTTCTT others(13): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG00673.hp2 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0019others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0002g0122 a0001c0001t0002g0132 a0001c0001t0002g0196 others(59): Show |
62 | 284 | 0.2183 | 20 | c.203 others(38): Show |
DHX57 | ENSG00000163214.21 | transcript | ENST00000457308.6 | protein_coding | 9/23 | chr2 | TogoVar | |||||||
DHX8_chr17_43478975_43530670 | 43511456 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 a0001c0001t0003g0217 |
2 | 354 | 0.0057 | 20 | c.250 others(39): Show |
DHX8 | ENSG00000067596.12 | transcript | ENST00000262415.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DIABLO_chr12_122202668_122231052 | 122211077 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 380 | 0.0026 | 20 | c.524 others(37): Show |
DIABLO | ENSG00000184047.21 | transcript | ENST00000464942.7 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
DIAPH1_chr5_141510021_141624000 | 141591695 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01175.hp1 HG02109.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0049 a0001c0001t0002g0142 a0001c0001t0002g0147 others(2): Show |
5 | 336 | 0.0149 | 20 | c.118 others(37): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 1/27 | chr5 | TogoVar | |||||||
DIAPH2_chrX_96679842_97609997 | 96751647 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0141 | 1 | 147 | 0.0068 | 20 | c.343 others(37): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96775353 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 147 | 0.0068 | 20 | c.447 others(39): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96807944 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 147 | 0.0068 | 20 | c.447 others(39): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96939484 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0032 |
2 | 147 | 0.0136 | 20 | c.132 others(37): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97129089 | A | ATCTTTTC others(13): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02257.hp1 HG02717.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0091 a0001c0001t0001g0098 others(5): Show |
8 | 147 | 0.0544 | 20 | c.259 others(41): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97137270 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0145 | 1 | 147 | 0.0068 | 20 | c.259 others(39): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97185451 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | NA20129.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0109 a0001c0001t0015g0144 |
2 | 147 | 0.0136 | 20 | c.271 others(41): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97187281 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 147 | 0.0068 | 20 | c.271 others(41): 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(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0143 | 1 | 147 | 0.0068 | 20 | c.272 others(39): 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(13): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 147 | 0.0068 | 20 | c.284 others(39): 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(13): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 147 | 0.0068 | 20 | c.284 others(39): 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(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00673.hp1 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 others(74): Show |
77 | 147 | 0.5238 | 20 | c.284 others(39): 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(13): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02698.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0011 a0001c0001t0002g0045 a0001c0001t0009g0099 |
3 | 147 | 0.0204 | 20 | c.284 others(41): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97588996 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02129.hp1 HG02738.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0003c0006t0001 | a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0118 others(4): Show |
7 | 147 | 0.0476 | 20 | c.324 others(41): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59756448 | G | GGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01928.hp1 HG01943.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0009 | a0001c0001t0001a0001c0001t0002a0002c0004t0001others(1): Show | a0001c0001t0001g0058 a0001c0001t0001g0188 a0001c0001t0001g0208 others(3): Show |
6 | 208 | 0.0289 | 20 | c.331 others(41): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 59802667 | A | ATTATTAT others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0207 | 1 | 208 | 0.0048 | 20 | c.316 others(39): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 59993702 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0056 | 1 | 208 | 0.0048 | 20 | c.101 others(39): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 9/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60014969 | T | TTTTTGTT others(13): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 208 | 0.0048 | 20 | c.771 others(35): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 7/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60105099 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0017 |
2 | 208 | 0.0096 | 20 | c.390 others(37): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 3/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60125394 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 a0001c0001t0001g0155 |
2 | 208 | 0.0096 | 20 | c.213 others(37): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 2/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60156918 | C | CACATATA others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0208 a0001c0001t0002g0197 |
2 | 208 | 0.0096 | 20 | c.180 others(37): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60156918 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0207 | 1 | 208 | 0.0048 | 20 | c.180 others(37): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60156939 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0007 | a0007c0016 | a0007c0016t0005 | a0007c0016t0005g0055 | 1 | 208 | 0.0048 | 20 | c.180 others(37): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62877373 | C | CTCCCCAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01257.hp2 |
a0002a0003 | a0002c0020a0003c0041 | a0002c0020t0001a0003c0041t0001 | a0002c0020t0001g0218 a0003c0041t0001g0242 |
2 | 320 | 0.0063 | 20 | c.*18 others(31): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 369 | chr20 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62904780 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0237 | 1 | 320 | 0.0031 | 20 | c.158 others(39): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 6/15 | chr20 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62922235 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0211 | 1 | 320 | 0.0031 | 20 | c.-20 others(39): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62929693 | G | GTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01168.hp1 HG02055.hp2 others(6): Show |
a0001a0003a0027 | a0001c0001a0001c0028a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0028t0001others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0076 a0001c0001t0001g0094 others(6): Show |
9 | 320 | 0.0281 | 20 | c.-34 others(31): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 3189 | chr20 | TogoVar | |||||||
DIMT1_chr5_62382254_62408905 | 62389485 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 404 | 0.0025 | 20 | c.900 others(35): Show |
DIMT1 | ENSG00000086189.11 | transcript | ENST00000199320.9 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
DIMT1_chr5_62382254_62408905 | 62396139 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0126 | 1 | 404 | 0.0025 | 20 | c.447 others(37): Show |
DIMT1 | ENSG00000086189.11 | transcript | ENST00000199320.9 | protein_coding | 6/11 | chr5 | TogoVar | |||||||
DIO2_chr14_80192526_80216504 | 80216486 | C | CTCTCCAG others(13): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0065 | 1 | 406 | 0.0025 | 20 | c.-50 others(31): Show |
DIO2 | ENSG00000211448.14 | transcript | ENST00000438257.9 | protein_coding | 4983 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr14 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46477541 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0368 a0001c0001t0011g0369 |
2 | 374 | 0.0054 | 20 | c.92- others(35): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46477543 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG03195.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0013a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0013g0136 a0001c0002t0001g0042 a0001c0002t0001g0048 others(5): Show |
8 | 374 | 0.0214 | 20 | c.92- others(35): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46477543 | T | TTTTGTGT others(13): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0027 | a0001c0027t0004 | a0001c0027t0004g0274 | 1 | 374 | 0.0027 | 20 | c.92- others(35): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46495179 | T | TTTCTCTT others(13): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19065.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0003 | a0001c0002t0001g0114 a0001c0003t0003g0315 |
2 | 374 | 0.0054 | 20 | c.284 others(37): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46495240 | T | TTCTCTTC others(13): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0288 | 1 | 374 | 0.0027 | 20 | c.284 others(37): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46495244 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 NA19064.hp2 NA20129.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0003a0001c0007t0005 | a0001c0003t0003g0306 a0001c0007t0005g0153 a0001c0007t0005g0158 |
3 | 374 | 0.0080 | 20 | c.284 others(37): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46503571 | T | TCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03098.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0003a0001c0006a0001c0013 | a0001c0003t0003a0001c0006t0014a0001c0013t0015 | a0001c0003t0003g0350 a0001c0003t0003g0354 a0001c0006t0014g0150 others(3): Show |
6 | 374 | 0.0160 | 20 | c.656 others(35): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46573645 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG02698.hp2 HG06807.hp2 |
a0001a0002 | a0001c0005a0001c0007a0002c0039 | a0001c0005t0003a0001c0007t0005a0002c0039t0006 | a0001c0005t0003g0313 a0001c0007t0005g0128 a0002c0039t0006g0190 |
3 | 374 | 0.0080 | 20 | c.*60 others(31): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3631 | chr21 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50536271 | G | GCATACAT others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0107 | 1 | 284 | 0.0035 | 20 | c.100 others(39): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50537114 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01993.hp1 HG02148.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(3): Show |
6 | 284 | 0.0211 | 20 | c.100 others(39): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50559709 | C | CCACACAC others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18950.hp1 NA19079.hp1 |
a0001a0007 | a0001c0002a0007c0020 | a0001c0002t0004a0007c0020t0023 | a0001c0002t0004g0235 a0001c0002t0004g0238 a0007c0020t0023g0100 |
3 | 284 | 0.0106 | 20 | c.100 others(39): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593832 | G | GTCCCCTT others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0275 a0001c0004t0005g0276 a0001c0004t0005g0278 others(4): Show |
7 | 284 | 0.0247 | 20 | c.101 others(39): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593860 | T | TCCTCCCC others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG02074.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0116 a0001c0001t0001g0122 others(5): Show |
8 | 284 | 0.0282 | 20 | c.101 others(39): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593865 | C | CCCTCCCC others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0244 | 1 | 284 | 0.0035 | 20 | c.101 others(39): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50663555 | C | CAAATAAA others(13): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01256.hp2 HG02300.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0003 | a0001c0001t0001g0167 a0001c0001t0007g0007 a0001c0002t0003g0218 others(4): Show |
7 | 284 | 0.0247 | 20 | c.427 others(37): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |