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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPYD_chr1_97072743_97926034 | 97242122 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG02004.hp2 HG02895.hp1 HG02976.hp2 |
a0001a0004a0009 | a0001c0001a0004c0004a0009c0013 | a0001c0001t0001a0004c0004t0001a0009c0013t0004 | a0001c0001t0001g0044 a0004c0004t0001g0002 a0009c0013t0004g0020 |
3 | 52 | 0.0577 | -18 | c.230 others(37): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 18/22 | chr1 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97385280 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0038 | 1 | 52 | 0.0192 | -18 | c.190 others(37): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 14/22 | chr1 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97586465 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 52 | 0.0192 | -18 | c.112 others(37): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 10/22 | chr1 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97893429 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 52 | 0.0192 | -18 | c.40- others(35): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
DPYSL3_chr5_147385808_147515068 | 147452881 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | HG03710.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 a0001c0001t0002g0098 |
2 | 298 | 0.0067 | -18 | c.382 others(37): Show |
DPYSL3 | ENSG00000113657.13 | transcript | ENST00000343218.10 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
DPYSL5_chr2_26843132_26955351 | 26932121 | AAGAGAAA others(11): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0011 | 1 | 232 | 0.0043 | -18 | c.714 others(33): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPYS_chr8_104374431_104472055 | 104440118 | AAAGAGAT others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00738.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0052 others(10): Show |
14 | 380 | 0.0368 | -18 | c.793 others(35): Show |
DPYS | ENSG00000147647.13 | transcript | ENST00000351513.7 | protein_coding | 4/9 | chr8 | TogoVar | |||||||
DRAM1_chr12_101872580_101928612 | 101874015 | ATTTTTTT others(11): Show |
A | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 396 | 0.0025 | -18 | c.-37 others(29): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 3564 | chr12 | TogoVar | |||||||
DRAM1_chr12_101872580_101928612 | 101904426 | GGTTTTTT others(11): Show |
G | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0359 | 1 | 396 | 0.0025 | -18 | c.342 others(35): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
DRC1_chr2_26396920_26461711 | 26420372 | CCTGCCTC others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp1 others(67): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0003a0005c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0004c0003t0001others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0077 others(67): Show |
70 | 384 | 0.1823 | -18 | c.244 others(33): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26429182 | GATGATTA others(11): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01934.hp1 HG02559.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0005 | a0001c0001t0001a0003c0004t0001a0003c0004t0003others(1): Show | a0001c0001t0001g0059 a0003c0004t0001g0029 a0003c0004t0003g0025 others(2): Show |
5 | 384 | 0.0130 | -18 | c.541 others(33): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26429185 | GATTATTA others(11): Show |
G | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 a0002c0002t0001g0121 |
2 | 384 | 0.0052 | -18 | c.541 others(33): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC3_chr17_17967862_18021889 | 17978688 | CCAGGGCT others(11): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 324 | 0.0031 | -18 | c.160 others(33): Show |
DRC3 | ENSG00000171962.19 | transcript | ENST00000399187.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DRD3_chr3_114122580_114184052 | 114156725 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG01070.hp1 others(49): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(12): Show | a0001c0002t0001g0014 a0001c0002t0001g0054 a0001c0002t0001g0056 others(45): Show |
52 | 360 | 0.1444 | -18 | c.383 others(35): Show |
DRD3 | ENSG00000151577.14 | transcript | ENST00000383673.5 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
DRICH1_chr22_23603452_23637321 | 23605610 | GCCCCTGC others(11): Show |
G | downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 446 | 0.0022 | -18 | c.*31 others(29): Show |
DRICH1 | ENSG00000189269.13 | transcript | ENST00000317749.9 | protein_coding | 2841 | chr22 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31436741 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01168.hp1 HG01358.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 others(2): Show |
5 | 322 | 0.0155 | -18 | c.294 others(35): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 24/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31480178 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0269 | 1 | 322 | 0.0031 | -18 | c.207 others(37): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 16/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31529722 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0231 | 1 | 322 | 0.0031 | -18 | c.-46 others(33): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 3/35 | chr5 | TogoVar | |||||||
DSC2_chr18_31053840_31107421 | 31074421 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0076 | a0002c0002t0076g0301 | 1 | 380 | 0.0026 | -18 | c.188 others(35): Show |
DSC2 | ENSG00000134755.18 | transcript | ENST00000280904.11 | protein_coding | 12/15 | chr18 | TogoVar | |||||||
DSC2_chr18_31053840_31107421 | 31083335 | GCGAGGCA others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(113): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0003a0004c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0007 a0001c0001t0001g0049 a0001c0001t0001g0075 others(83): Show |
116 | 380 | 0.3053 | -18 | c.943 others(33): Show |
DSC2 | ENSG00000134755.18 | transcript | ENST00000280904.11 | protein_coding | 7/15 | chr18 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117484886 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01993.hp1 HG02071.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0007a0001c0008others(10): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0003others(14): Show | a0001c0005t0001g0190 a0001c0005t0002g0144 a0001c0005t0003g0046 others(15): Show |
18 | 194 | 0.0928 | -18 | c.236 others(37): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 11/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117512669 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01515.hp1 HG02055.hp2 others(3): Show |
a0001a0002 | a0001c0024a0002c0001a0002c0002others(2): Show | a0001c0024t0003a0002c0001t0002a0002c0001t0004others(3): Show | a0001c0024t0003g0073 a0002c0001t0002g0115 a0002c0001t0004g0082 others(3): Show |
6 | 194 | 0.0309 | -18 | c.178 others(37): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 8/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117537132 | ACTCATAG others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(106): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0007a0001c0008others(44): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0003others(74): Show | a0001c0005t0001g0084 a0001c0005t0001g0096 a0001c0005t0001g0099 others(106): Show |
109 | 194 | 0.5619 | -18 | c.512 others(35): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117757573 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0061 | a0002c0061t0002 | a0002c0061t0002g0040 | 1 | 194 | 0.0052 | -18 | c.511 others(37): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117779203 | TTAAGTTG others(11): Show |
T | intron_variant | MODIFIER | NA19012.hp1 | a0004 | a0004c0063 | a0004c0063t0002 | a0004c0063t0002g0106 | 1 | 194 | 0.0052 | -18 | c.364 others(35): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 2/32 | chr11 | TogoVar | |||||||
DSPP_chr4_87603529_87621873 | 87614861 | TAGCAGTG others(11): Show |
T | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG01123.hp1 HG01192.hp1 others(7): Show |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0011 | 10 | 450 | 0.0222 | -18 | c.221 others(27): Show |
p.Asn others(13): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 2334/4331 | 2214/3906 | 738/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DSPP_chr4_87603529_87621873 | 87614933 | TAGCAGTG others(11): Show |
T | disruptive_inframe_deletion | MODERATE | HG02055.hp2 HG02622.hp2 HG02647.hp1 others(5): Show |
a0013a0026 | a0013c0012a0026c0028 | a0013c0012t0001a0026c0028t0001 | a0013c0012t0001g0022 a0013c0012t0001g0080 a0026c0028t0001g0040 |
8 | 450 | 0.0178 | -18 | c.228 others(27): Show |
p.Asn others(13): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 2406/4331 | 2286/3906 | 762/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DSPP_chr4_87603529_87621873 | 87615161 | CGATAGCA others(11): Show |
C | conservative_inframe_deletion | MODERATE | HG02622.hp2 HG03516.hp2 |
a0026 | a0026c0028 | a0026c0028t0001 | a0026c0028t0001g0040 | 2 | 450 | 0.0044 | -18 | c.250 others(27): Show |
p.Asn others(13): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 2629/4331 | 2509/3906 | 837/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DSPP_chr4_87603529_87621873 | 87615611 | CGATAGCA others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG01167.hp1 HG01169.hp1 others(8): Show |
a0011a0018a0046 | a0011c0018a0011c0040a0018c0020others(1): Show | a0011c0018t0001a0011c0040t0001a0018c0020t0001others(1): Show | a0011c0018t0001g0014 a0011c0040t0001g0014 a0018c0020t0001g0013 others(1): Show |
11 | 450 | 0.0244 | -18 | c.297 others(27): Show |
p.Ser others(13): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3090/4331 | 2970/3906 | 990/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DSPP_chr4_87603529_87621873 | 87615716 | TAGTGACA others(11): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(216): Show |
a0001a0002a0004others(17): Show | a0001c0001a0002c0002a0002c0043others(23): Show | a0001c0001t0001a0002c0002t0001a0002c0043t0001others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(56): Show |
219 | 450 | 0.4867 | -18 | c.306 others(27): Show |
p.Ser others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3189/4331 | 3069/3906 | 1023/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DSPP_chr4_87603529_87621873 | 87615731 | TAGCAGTG others(11): Show |
T | conservative_inframe_deletion | MODERATE | HG00738.hp2 | a0031 | a0031c0053 | a0031c0053t0004 | a0031c0053t0004g0019 | 1 | 450 | 0.0022 | -18 | c.308 others(27): Show |
p.Asn others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3205/4331 | 3085/3906 | 1029/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DSPP_chr4_87603529_87621873 | 87615749 | CAGCAGTG others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG02559.hp1 HG02572.hp1 HG02970.hp2 others(9): Show |
a0019a0021a0027others(3): Show | a0019c0036a0019c0068a0019c0075others(6): Show | a0019c0036t0001a0019c0068t0001a0019c0075t0001others(6): Show | a0019c0036t0001g0043 a0019c0036t0001g0046 a0019c0068t0001g0056 others(7): Show |
12 | 450 | 0.0267 | -18 | c.313 others(27): Show |
p.Asp others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3258/4331 | 3138/3906 | 1046/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DSPP_chr4_87603529_87621873 | 87616274 | TAGTGATA others(11): Show |
T | disruptive_inframe_deletion | MODERATE | HG03139.hp1 | a0045 | a0045c0060 | a0045c0060t0001 | a0045c0060t0001g0033 | 1 | 450 | 0.0022 | -18 | c.361 others(27): Show |
p.Ser others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3738/4331 | 3618/3906 | 1206/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DSPP_chr4_87603529_87621873 | 87616286 | TGACAGCA others(11): Show |
T | disruptive_inframe_deletion | MODERATE | HG01106.hp1 HG01891.hp1 HG02015.hp1 others(24): Show |
a0012a0013a0016others(4): Show | a0012c0014a0013c0012a0016c0017others(4): Show | a0012c0014t0001a0013c0012t0001a0016c0017t0001others(4): Show | a0012c0014t0001g0001 a0013c0012t0001g0022 a0013c0012t0001g0080 others(7): Show |
27 | 450 | 0.0600 | -18 | c.367 others(27): Show |
p.Ser others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3797/4331 | 3677/3906 | 1226/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DSTYK_chr1_205137505_205216702 | 205176476 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02647.hp1 others(8): Show |
a0001 | a0001c0002a0001c0018 | a0001c0002t0005a0001c0018t0005 | a0001c0002t0005g0008 a0001c0002t0005g0270 a0001c0002t0005g0271 others(7): Show |
11 | 348 | 0.0316 | -18 | c.655 others(35): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
DSTYK_chr1_205137505_205216702 | 205181656 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 348 | 0.0029 | -18 | c.654 others(35): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
DSTYK_chr1_205137505_205216702 | 205207755 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp1 others(79): Show |
a0001a0004a0012 | a0001c0002a0004c0005a0012c0011 | a0001c0002t0001a0001c0002t0007a0001c0002t0031others(4): Show | a0001c0002t0001g0006 a0001c0002t0001g0126 a0001c0002t0001g0131 others(77): Show |
82 | 348 | 0.2356 | -18 | c.265 others(35): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56516137 | GAGAGAGA others(11): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG01069.hp2 others(12): Show |
a0001a0008a0015others(4): Show | a0001c0001a0001c0005a0008c0015others(6): Show | a0001c0001t0001a0001c0005t0001a0008c0015t0001others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0039 others(12): Show |
15 | 84 | 0.1786 | -18 | c.183 others(37): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 71/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56728973 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02615.hp2 others(3): Show |
a0010a0029a0042others(2): Show | a0010c0016a0010c0056a0029c0020others(3): Show | a0010c0016t0001a0010c0056t0001a0029c0020t0001others(3): Show | a0010c0016t0001g0060 a0010c0056t0001g0016 a0029c0020t0001g0073 others(3): Show |
6 | 84 | 0.0714 | -18 | c.687 others(35): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 5/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56793068 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp1 |
a0007a0033 | a0007c0008a0033c0042 | a0007c0008t0001a0033c0042t0001 | a0007c0008t0001g0052 a0033c0042t0001g0053 |
2 | 84 | 0.0238 | -18 | c.626 others(37): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 4/103 | chr6 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18766755 | AAAAAAAA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0099 | 1 | 398 | 0.0025 | -18 | c.*34 others(29): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 112 | chr20 | TogoVar | |||||||
DTL_chr1_212030748_212110013 | 212051442 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG04115.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0172 a0001c0001t0001g0233 |
3 | 364 | 0.0082 | -18 | c.460 others(35): Show |
DTL | ENSG00000143476.18 | transcript | ENST00000366991.5 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DTNA_chr18_34705298_34896844 | 34860220 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 112 | 0.0089 | -18 | c.164 others(37): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DTNBP1_chr6_15517807_15668028 | 15585064 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG02132.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 others(18): Show |
21 | 314 | 0.0669 | -18 | c.511 others(35): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25509482 | CTGCAAAT others(11): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG06807.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0018 a0001c0001t0003g0168 a0001c0002t0001g0019 |
3 | 168 | 0.0179 | -18 | c.100 others(39): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118973606 | CGCCTCCT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(154): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(154): Show |
157 | 242 | 0.6488 | -18 | c.218 others(37): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 1/5 | chr5 | TogoVar | |||||||
DUOX1_chr15_45124994_45170574 | 45135391 | AGCCGCGG others(11): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 386 | 0.0026 | -18 | c.496 others(31): Show |
DUOX1 | ENSG00000137857.18 | transcript | ENST00000389037.7 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DUOX1_chr15_45124994_45170574 | 45153493 | AATGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01167.hp2 others(15): Show |
a0002a0003a0019 | a0002c0005a0003c0003a0019c0024 | a0002c0005t0002a0003c0003t0002a0019c0024t0002 | a0002c0005t0002g0004 a0002c0005t0002g0010 a0002c0005t0002g0099 others(11): Show |
18 | 386 | 0.0466 | -18 | c.352 others(33): Show |
DUOX1 | ENSG00000137857.18 | transcript | ENST00000389037.7 | protein_coding | 26/33 | chr15 | TogoVar | |||||||
DUOX1_chr15_45124994_45170574 | 45153494 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 a0001c0001t0001g0323 |
2 | 386 | 0.0052 | -18 | c.352 others(33): Show |
DUOX1 | ENSG00000137857.18 | transcript | ENST00000389037.7 | protein_coding | 26/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DUS2_chr16_68018284_68084320 | 68020811 | ATACGTAT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(36): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0014 others(34): Show |
39 | 234 | 0.1667 | -18 | c.-26 others(29): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 2472 | chr16 | TogoVar |