| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DHRS9_chr2_169064563_169101167 | 169079973 | GAGAGAGA others(11): Show |
G | intron_variant | MODIFIER | NA18612.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148a0001c0001t0001g0338 | 2 | 398 | 0.0050 | -18 | c.-59 others(35): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DHRSX_chrX_2214506_2505976 | 2225295 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0035 | 1 | 50 | 0.0200 | -18 | c.805 others(35): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2243788 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02572.hp1 HG02717.hp1 others(1): Show |
a0004a0007 | a0004c0004a0004c0014a0007c0009 | a0004c0004t0005a0004c0014t0005a0007c0009t0013 | a0004c0004t0005g0009a0004c0004t0005g0030a0004c0014t0005g0007others(1): Show | 4 | 50 | 0.0800 | -18 | c.597 others(33): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2283895 | TTCATTCC others(11): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02572.hp1 HG02717.hp1 others(1): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0004c0014others(1): Show | a0001c0001t0001a0004c0004t0005a0004c0014t0005others(1): Show | a0001c0001t0001g0037a0004c0004t0005g0009a0004c0014t0005g0007others(1): Show | 4 | 50 | 0.0800 | -18 | c.388 others(35): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2344872 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002 | 1 | 50 | 0.0200 | -18 | c.287 others(37): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
| DHTKD1_chr10_12063954_12128221 | 12117846 | ATCTCCCC others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 374 | 0.0027 | -18 | c.240 others(34): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DHX16_chr6_30648127_30678006 | 30652239 | TCACACAC others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0129 | 2 | 383 | 0.0052 | -18 | c.*98 others(28): Show |
DHX16 | ENSG00000204560.10 | transcript | ENST00000376442.8 | protein_coding | 887 | chr6 | TogoVar | ||||||
| DHX34_chr19_47344315_47387704 | 47384325 | GTTTTTTT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG03471.hp1 HG03942.hp2 |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0002a0002c0003t0001 | a0001c0006t0002g0119a0002c0003t0001g0032 | 2 | 382 | 0.0052 | -18 | c.*22 others(29): Show |
DHX34 | ENSG00000134815.19 | transcript | ENST00000328771.9 | protein_coding | 1622 | chr19 | TogoVar | ||||||
| DHX36_chr3_154267546_154329487 | 154310804 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 366 | 0.0027 | -18 | c.642 others(33): Show |
DHX36 | ENSG00000174953.14 | transcript | ENST00000496811.6 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
| DHX36_chr3_154267546_154329487 | 154310806 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0002g0233a0001c0001t0002g0244a0001c0001t0002g0245others(25): Show | 29 | 366 | 0.0792 | -18 | c.642 others(33): Show |
DHX36 | ENSG00000174953.14 | transcript | ENST00000496811.6 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
| DHX36_chr3_154267546_154329487 | 154312852 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02015.hp1 others(3): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0010a0001c0010t0022 | a0001c0001t0002g0272a0001c0001t0010g0347a0001c0001t0010g0348others(3): Show | 6 | 366 | 0.0164 | -18 | c.604 others(35): Show |
DHX36 | ENSG00000174953.14 | transcript | ENST00000496811.6 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| DHX58_chr17_42096411_42117714 | 42116527 | GGGTGAAA others(11): Show |
G | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0012 | a0012c0019 | a0012c0019t0002 | a0012c0019t0002g0095 | 1 | 352 | 0.0028 | -18 | c.-40 others(29): Show |
DHX58 | ENSG00000108771.13 | transcript | ENST00000251642.8 | protein_coding | 3814 | chr17 | TogoVar | ||||||
| DIAPH2_chrX_96679842_97609997 | 96766214 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 147 | 0.0068 | -18 | c.447 others(35): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DIAPH2_chrX_96679842_97609997 | 96807944 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0028 | 1 | 147 | 0.0068 | -18 | c.447 others(37): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DIAPH2_chrX_96679842_97609997 | 97300931 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 147 | 0.0068 | -18 | 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 | 97399221 | GTTTTGTT others(11): Show |
G | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 147 | 0.0068 | -18 | c.314 others(39): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DIAPH2_chrX_96679842_97609997 | 97476984 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 147 | 0.0068 | -18 | c.324 others(39): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DIAPH3_chr13_59660583_60168928 | 59955063 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(34): Show |
a0001 | a0001c0001a0001c0006a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0115a0001c0001t0001g0147a0001c0001t0001g0148others(34): Show | 37 | 208 | 0.1779 | -18 | c.207 others(39): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 17/27 | chr13 | TogoVar | ||||||
| DIAPH3_chr13_59660583_60168928 | 60005217 | ATATTTTG others(11): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG02129.hp1 |
a0001a0007 | a0001c0002a0007c0015 | a0001c0002t0001a0007c0015t0001 | a0001c0002t0001g0205a0007c0015t0001g0206 | 2 | 208 | 0.0096 | -18 | c.101 others(37): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 9/27 | chr13 | TogoVar | ||||||
| DICER1_chr14_95081228_95162529 | 95126595 | AGTAGAAT others(11): Show |
A | disruptive_inframe_deletion | MODERATE | NA19089.hp1 | a0009 | a0009c0019 | a0009c0019t0002 | a0009c0019t0002g0235 | 1 | 306 | 0.0033 | -18 | c.870 others(25): Show |
p.Lys others(13): Show |
DICER1 | ENSG00000100697.17 | transcript | ENST00000343455.8 | protein_coding | 7/27 | 1232/10384 | 870/5769 | 290/1922 | chr14 | TogoVar | ||
| DICER1_chr14_95081228_95162529 | 95137345 | GAAGGGAA others(11): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01255.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0003a0001c0002t0008g0006a0001c0002t0008g0028others(8): Show | 16 | 306 | 0.0523 | -18 | c.-45 others(35): Show |
DICER1 | ENSG00000100697.17 | transcript | ENST00000343455.8 | protein_coding | 1/26 | chr14 | TogoVar | ||||||
| DIDO1_chr20_62872743_62931505 | 62922213 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(90): Show |
a0001a0003a0012others(6): Show | a0001c0001a0001c0009a0001c0012others(14): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(73): Show | 93 | 320 | 0.2906 | -18 | c.-20 others(37): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 1/15 | chr20 | TogoVar | ||||||
| DIP2A_chr21_46453891_46575015 | 46503651 | TTTTCTTT others(11): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG01433.hp1 others(25): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(14): Show | a0001c0001t0002g0096a0001c0001t0011g0365a0001c0001t0011g0366others(25): Show | 28 | 374 | 0.0749 | -18 | c.656 others(33): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| DIP2A_chr21_46453891_46575015 | 46519855 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01099.hp1 HG01168.hp1 others(5): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0002a0001c0001t0013a0001c0020t0002 | a0001c0001t0002g0127a0001c0001t0002g0140a0001c0001t0013g0136others(5): Show | 8 | 374 | 0.0214 | -18 | c.110 others(37): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| DIP2A_chr21_46453891_46575015 | 46525863 | CATTATTA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp2 others(89): Show |
a0001a0007a0009 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0002g0020others(89): Show | 92 | 374 | 0.2460 | -18 | c.110 others(37): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| DIP2A_chr21_46453891_46575015 | 46528527 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01257.hp2 HG01258.hp2 others(12): Show |
a0001a0003 | a0001c0006a0001c0012a0001c0013others(4): Show | a0001c0006t0004a0001c0012t0012a0001c0013t0015others(4): Show | a0001c0006t0004g0170a0001c0012t0012g0144a0001c0012t0012g0146others(12): Show | 15 | 374 | 0.0401 | -18 | c.110 others(35): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| DIP2B_chr12_50499985_50753657 | 50600922 | CACCACCA others(11): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02647.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0004 | a0001c0001t0007g0005a0001c0001t0007g0007a0001c0001t0007g0008others(3): Show | 6 | 284 | 0.0211 | -18 | c.101 others(37): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DIP2B_chr12_50499985_50753657 | 50623423 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01975.hp2 HG02055.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0011a0001c0001t0036others(2): Show | a0001c0001t0008g0261a0001c0001t0011g0080a0001c0001t0036g0001others(2): Show | 5 | 284 | 0.0176 | -18 | c.101 others(35): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DIP2B_chr12_50499985_50753657 | 50623425 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG02486.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0003a0001c0002t0004 | a0001c0001t0006g0104a0001c0002t0003g0252a0001c0002t0003g0265others(2): Show | 5 | 284 | 0.0176 | -18 | c.101 others(35): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DIP2B_chr12_50499985_50753657 | 50623427 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0004 | a0001c0001t0016g0084a0001c0002t0004g0010 | 2 | 284 | 0.0070 | -18 | c.101 others(35): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DIP2B_chr12_50499985_50753657 | 50664829 | GGTTTTTG others(11): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0101 | 1 | 284 | 0.0035 | -18 | c.427 others(35): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 4/37 | chr12 | TogoVar | ||||||
| DIP2B_chr12_50499985_50753657 | 50664830 | GTTTTTGT others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(69): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(17): Show | a0001c0001t0001g0020a0001c0001t0001g0034a0001c0001t0001g0035others(69): Show | 72 | 284 | 0.2535 | -18 | c.427 others(35): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DIP2C_chr10_269201_694668 | 356528 | AGGATCAG others(11): Show |
A | intron_variant | MODIFIER | HG01081.hp2 NA20129.hp2 |
a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0076a0001c0007t0002g0077 | 2 | 88 | 0.0227 | -18 | c.290 others(33): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 23/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 371141 | GCCACCAT others(11): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 88 | 0.0114 | -18 | c.199 others(37): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 17/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 371142 | CCACCATC others(11): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00673.hp2 others(26): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0023others(26): Show | 29 | 88 | 0.3296 | -18 | c.199 others(37): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 17/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 395131 | TGGGGGAG others(11): Show |
T | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 88 | 0.0114 | -18 | c.126 others(37): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 10/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 395145 | GATGGGGG others(11): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00609.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(17): Show | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0027others(52): Show | 55 | 88 | 0.6250 | -18 | c.126 others(37): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 10/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 516398 | ATGGGGGG others(11): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0077 | 1 | 88 | 0.0114 | -18 | c.86- others(35): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 532560 | AGAGAGAG others(11): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00673.hp1 others(10): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0002a0001c0002t0003a0001c0003t0002others(5): Show | a0001c0002t0002g0055a0001c0002t0002g0067a0001c0002t0003g0029others(10): Show | 13 | 88 | 0.1477 | -18 | c.86- others(35): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 532686 | TGAGAGAG others(11): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 88 | 0.0114 | -18 | c.86- others(35): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 608223 | ACACCCCC others(11): Show |
A | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 88 | 0.0114 | -18 | c.85+ others(35): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 608566 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021 | 1 | 88 | 0.0114 | -18 | c.85+ others(35): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 640718 | CGCGCGGG others(11): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00609.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(60): Show | 63 | 88 | 0.7159 | -18 | c.85+ others(35): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 640723 | GGGGAAGA others(11): Show |
G | intron_variant | MODIFIER | HG03225.hp2 NA18970.hp2 NA19007.hp2 |
a0001 | a0001c0004a0001c0015 | a0001c0004t0001a0001c0015t0002 | a0001c0004t0001g0068a0001c0004t0001g0084a0001c0015t0002g0083 | 3 | 88 | 0.0341 | -18 | c.85+ others(35): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 692100 | CATATATA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0001 | 1 | 88 | 0.0114 | -18 | c.-25 others(29): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2433 | chr10 | TogoVar | ||||||
| DIRAS2_chr9_90604832_90647824 | 90606688 | AAATAATA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0009a0001c0001t0002g0026others(53): Show | 73 | 440 | 0.1659 | -18 | c.*65 others(29): Show |
DIRAS2 | ENSG00000165023.7 | transcript | ENST00000375765.5 | protein_coding | 3143 | chr9 | TogoVar | ||||||
| DIS3L2_chr2_231956713_232342192 | 231966641 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 304 | 0.0033 | -18 | c.-94 others(35): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DIS3L2_chr2_231956713_232342192 | 231981598 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 304 | 0.0033 | -18 | c.-94 others(37): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DIS3L2_chr2_231956713_232342192 | 232078007 | TTCTTTCT others(11): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01256.hp2 HG03704.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0001a0001c0002t0001a0001c0014t0001 | a0001c0001t0001g0040a0001c0001t0001g0056a0001c0002t0001g0001others(7): Show | 10 | 304 | 0.0329 | -18 | c.367 others(35): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DIS3L2_chr2_231956713_232342192 | 232086359 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02615.hp1 HG03139.hp1 |
a0001a0004 | a0001c0003a0001c0018a0004c0019 | a0001c0003t0001a0001c0018t0001a0004c0019t0001 | a0001c0003t0001g0175a0001c0018t0001g0006a0004c0019t0001g0296 | 3 | 304 | 0.0099 | -18 | c.367 others(35): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |