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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAJC10_chr2_182711257_182799464 | 182739182 | TATATATC others(29): Show |
T | intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0005 | a0002c0005t0120 | a0002c0005t0120g0042 | 1 | 310 | 0.0032 | -36 | c.988 others(53): Show |
DNAJC10 | ENSG00000077232.19 | transcript | ENST00000264065.12 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAJC12_chr10_67791669_67843188 | 67819679 | AAAGAAAG others(29): Show |
A | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 384 | 0.0026 | -36 | c.157 others(53): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67819683 | AAAGAAAG others(29): Show |
A | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 384 | 0.0026 | -36 | c.157 others(53): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67819687 | AAAGAAAG others(29): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01081.hp2 HG01123.hp2 others(21): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0269a0001c0001t0001g0272a0001c0001t0001g0289others(21): Show | 24 | 384 | 0.0625 | -36 | c.157 others(53): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67819691 | AAAGAAAG others(29): Show |
A | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 384 | 0.0026 | -36 | c.157 others(53): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95764689 | CACACACA others(29): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02818.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0041a0001c0001t0044 | a0001c0001t0018g0368a0001c0001t0041g0370a0001c0001t0044g0367 | 3 | 374 | 0.0080 | -36 | c.107 others(53): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNER_chr2_229352629_229719555 | 229388592 | AATATATA others(29): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG03453.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0152a0002c0003t0001g0022 | 2 | 176 | 0.0114 | -36 | c.172 others(53): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
DNMT1_chr19_10128346_10199953 | 10182384 | CATATATA others(29): Show |
C | intron_variant | MODIFIER | HG03516.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0183a0001c0002t0001g0184 | 2 | 386 | 0.0052 | -36 | c.81- others(49): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 1/40 | chr19 | TogoVar | ||||||
DNMT1_chr19_10128346_10199953 | 10182391 | ATGTGTAT others(29): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0005others(24): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(344): Show | 355 | 386 | 0.9197 | -36 | c.81- others(49): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 1/40 | chr19 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25300641 | TTATTTAG others(29): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0060 | 1 | 294 | 0.0034 | -36 | c.73- others(49): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | ||||||
DNMT3B_chr20_32757385_32814356 | 32767339 | GGTCTGGC others(29): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 298 | 0.0034 | -36 | c.-7+ others(51): Show |
DNMT3B | ENSG00000088305.19 | transcript | ENST00000328111.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DNTTIP1_chr20_45786954_45816418 | 45800692 | AAAATATA others(29): Show |
A | intron_variant | MODIFIER | HG02145.hp1 NA18945.hp2 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033a0001c0001t0002g0127 | 3 | 412 | 0.0073 | -36 | c.373 others(51): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DOC2B_chr17_137789_186650 | 170974 | GGAGAGCA others(29): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02895.hp1 HG03098.hp1 others(1): Show |
a0002 | a0002c0006 | a0002c0006t0012 | a0002c0006t0012g0028a0002c0006t0012g0249a0002c0006t0012g0274 | 4 | 339 | 0.0118 | -36 | c.453 others(53): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 171204 | GGAGAGCA others(29): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03098.hp2 HG03540.hp2 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0106a0001c0005t0007g0112a0001c0005t0007g0115 | 3 | 339 | 0.0089 | -36 | c.453 others(53): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 225016624 | CATAGATA others(29): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0002 | a0001c0001t0003g0090a0001c0004t0002g0091 | 2 | 172 | 0.0116 | -36 | c.123 others(55): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 1/55 | chr2 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127261262 | GGTGTGTG others(29): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG06807.hp1 |
a0003a0004a0005 | a0003c0019a0004c0020a0005c0014 | a0003c0019t0004a0004c0020t0003a0005c0014t0009 | a0003c0019t0004g0119a0004c0020t0003g0023a0005c0014t0009g0078 | 3 | 136 | 0.0221 | -36 | c.304 others(55): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 29/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK3_chr3_50669927_51389198 | 50970889 | TTTTATAT others(29): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00735.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0008 | a0001c0001t0001a0001c0001t0005a0001c0014t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(23): Show | 26 | 212 | 0.1226 | -36 | c.315 others(55): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DOCK3_chr3_50669927_51389198 | 51016752 | TAATATAT others(29): Show |
T | intron_variant | MODIFIER | NA19058.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0004 | 2 | 212 | 0.0094 | -36 | c.316 others(55): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DOCK4_chr7_111721110_112211399 | 111933141 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG03209.hp2 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0001g0065a0001c0001t0007g0039a0001c0001t0011g0016others(1): Show | 4 | 106 | 0.0377 | -36 | c.106 others(55): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 12/52 | chr7 | TogoVar | ||||||
DOCK4_chr7_111721110_112211399 | 112066670 | CATATACA others(29): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0003 | 1 | 106 | 0.0094 | -36 | c.38- others(53): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 1/52 | chr7 | TogoVar | ||||||
DOCK5_chr8_25179689_25420711 | 25216567 | ATATGTAT others(29): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG03579.hp1 |
a0001a0009 | a0001c0002a0009c0055 | a0001c0002t0003a0009c0055t0005 | a0001c0002t0003g0085a0009c0055t0005g0073 | 2 | 210 | 0.0095 | -36 | c.44- others(53): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DOCK5_chr8_25179689_25420711 | 25216695 | ATATGTAT others(29): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0085 | 1 | 210 | 0.0048 | -36 | c.44- others(53): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400638 | CCACCATC others(29): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0110 | 1 | 256 | 0.0039 | -36 | c.323 others(55): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400719 | CCACCACC others(29): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0018 | a0018c0086 | a0018c0086t0006 | a0018c0086t0006g0030 | 1 | 256 | 0.0039 | -36 | c.323 others(55): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400867 | CATCACCA others(29): Show |
C | intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0058 | 1 | 256 | 0.0039 | -36 | c.323 others(55): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 470187 | GGGTAGGG others(29): Show |
G | downstream_gene_variant | MODIFIER | HG03209.hp1 | a0021 | a0021c0147 | a0021c0147t0002 | a0021c0147t0002g0178 | 1 | 256 | 0.0039 | -36 | c.*59 others(47): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 4933 | chr9 | TogoVar | ||||||
DOHH_chr19_3485824_3505674 | 3498525 | CCTCCCGA others(29): Show |
C | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 392 | 0.0026 | -36 | c.-72 others(53): Show |
DOHH | ENSG00000129932.10 | transcript | ENST00000427575.6 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
DOK5_chr20_54470593_54656169 | 54481054 | TATCATCT others(29): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG02809.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0081a0001c0001t0002g0079a0001c0001t0002g0082others(3): Show | 6 | 130 | 0.0462 | -36 | c.66+ others(51): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DOK6_chr18_69395888_69854087 | 69811524 | TTATATAT others(29): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG03139.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0060a0001c0001t0062a0001c0001t0075 | a0001c0001t0060g0021a0001c0001t0062g0035a0001c0001t0075g0011 | 3 | 170 | 0.0177 | -36 | c.857 others(55): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DOK7_chr4_3458306_3499482 | 3488784 | GTGGCTGT others(29): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02622.hp2 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0015a0003c0003t0004g0123a0003c0003t0004g0125others(4): Show | 8 | 404 | 0.0198 | -36 | c.653 others(51): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DONSON_chr21_33572551_33593684 | 33577604 | TACACACA others(29): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG01192.hp2 HG01891.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0019a0001c0001t0040a0001c0001t0082others(1): Show | a0001c0001t0019g0152a0001c0001t0019g0157a0001c0001t0019g0220others(7): Show | 10 | 426 | 0.0235 | -36 | c.*66 others(45): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 667 | chr21 | TogoVar | |||||
DONSON_chr21_33572551_33593684 | 33577667 | ACACACAC others(29): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03540.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0129a0001c0001t0130 | a0001c0001t0129g0047a0001c0001t0130g0140 | 2 | 426 | 0.0047 | -36 | c.*60 others(45): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 604 | chr21 | TogoVar | |||||
DPEP2NB_chr16_68008436_68020911 | 68010081 | CTTCCTTC others(29): Show |
C | downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 362 | 0.0028 | -36 | c.*39 others(47): Show |
DPEP2NB | ENSG00000263201.1 | transcript | ENST00000574912.1 | protein_coding | 3354 | chr16 | TogoVar | ||||||
DPF3_chr14_72604034_72899101 | 72892941 | CTGGAAGG others(29): Show |
C | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0080 | 1 | 234 | 0.0043 | -36 | c.32+ others(51): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
DPF3_chr14_72604034_72899101 | 72892942 | TGGAAGGA others(29): Show |
T | intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0079 | 1 | 234 | 0.0043 | -36 | c.32+ others(51): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
DPH6_chr15_35365880_35551165 | 35542933 | TTCCACTT others(29): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 228 | 0.0044 | -36 | c.24- others(49): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 115439134 | AAGCACAG others(29): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp2 NA20129.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0002 | a0001c0002t0001g0015a0001c0002t0001g0017a0002c0001t0002g0026 | 3 | 56 | 0.0536 | -36 | c.272 others(55): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154305018 | TCCCCAGC others(29): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG02280.hp2 HG03453.hp2 others(2): Show |
a0002 | a0002c0012a0002c0014a0002c0022others(2): Show | a0002c0012t0021a0002c0014t0025a0002c0022t0023others(2): Show | a0002c0012t0021g0035a0002c0014t0025g0029a0002c0022t0023g0027others(2): Show | 5 | 38 | 0.1316 | -36 | c.244 others(57): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154657124 | ATGGGTGG others(29): Show |
A | intron_variant | MODIFIER | HG02040.hp2 HG02083.hp1 HG02129.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0019 | a0001c0001t0005a0001c0001t0016a0002c0004t0004others(1): Show | a0001c0001t0005g0032a0001c0001t0016g0005a0002c0004t0004g0008others(1): Show | 4 | 38 | 0.1053 | -36 | c.681 others(55): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 6/25 | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154883547 | CACACCTG others(29): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01433.hp2 others(20): Show |
a0001a0002 | a0001c0003a0001c0006a0001c0011others(14): Show | a0001c0003t0007a0001c0003t0008a0001c0006t0002others(20): Show | a0001c0003t0007g0024a0001c0003t0008g0025a0001c0006t0002g0015others(20): Show | 23 | 38 | 0.6053 | -36 | c.213 others(55): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP9_chr19_4670227_4728842 | 4672032 | TATATATT others(29): Show |
T | downstream_gene_variant | MODIFIER | HG01934.hp1 HG02698.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0138a0001c0001t0004g0259a0001c0001t0016g0296 | 3 | 314 | 0.0096 | -36 | c.*44 others(47): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 3194 | chr19 | TogoVar | ||||||
DPP9_chr19_4670227_4728842 | 4672094 | CATATATT others(29): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 314 | 0.0032 | -36 | c.*44 others(47): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 3132 | chr19 | TogoVar | ||||||
DRC7_chr16_57689806_57736805 | 57729566 | GTGGGTGG others(29): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0279 | 1 | 388 | 0.0026 | -36 | c.239 others(54): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DRD1_chr5_175435036_175449182 | 175440653 | GGAAAGCC others(29): Show |
G | 3_prime_UTR_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0031 | 1 | 490 | 0.0020 | -36 | c.*10 others(47): Show |
DRD1 | ENSG00000184845.4 | transcript | ENST00000393752.3 | protein_coding | 2/2 | 1070 | chr5 | TogoVar | |||||
DSCC1_chr8_119828976_119860894 | 119856671 | AACTTCAG others(29): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02630.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0051a0001c0001t0001g0205a0001c0001t0005g0011others(6): Show | 13 | 378 | 0.0344 | -36 | c.-91 others(45): Show |
DSCC1 | ENSG00000136982.6 | transcript | ENST00000313655.5 | protein_coding | 778 | chr8 | TogoVar | ||||||
DSG3_chr18_31442741_31483702 | 31457573 | CTTTCTTT others(29): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02738.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0228a0001c0001t0031g0038 | 3 | 346 | 0.0087 | -36 | c.216 others(51): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DSG3_chr18_31442741_31483702 | 31457581 | CTTTCTTC others(29): Show |
C | intron_variant | MODIFIER | HG01884.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0084a0001c0001t0024g0156 | 2 | 346 | 0.0058 | -36 | c.216 others(51): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DSPP_chr4_87603529_87621873 | 87615221 | CGACAGCA others(29): Show |
C | conservative_inframe_deletion | MODERATE | HG01167.hp1 HG01169.hp1 HG01192.hp2 others(1): Show |
a0018 | a0018c0020 | a0018c0020t0001 | a0018c0020t0001g0013 | 4 | 450 | 0.0089 | -36 | c.256 others(45): Show |
p.Asn others(13): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 2689/4331 | 2569/3906 | 857/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
DSPP_chr4_87603529_87621873 | 87615729 | AATAGCAG others(29): Show |
A | conservative_inframe_deletion | MODERATE | HG00140.hp1 HG00408.hp1 HG00597.hp2 others(118): Show |
a0003a0006a0008others(11): Show | a0003c0003a0003c0063a0003c0064others(15): Show | a0003c0003t0001a0003c0063t0001a0003c0064t0001others(15): Show | a0003c0003t0001g0001a0003c0003t0001g0010a0003c0003t0001g0039others(26): Show | 121 | 450 | 0.2689 | -36 | c.308 others(45): 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 | 87615900 | GATAGCAG others(29): Show |
G | disruptive_inframe_deletion | MODERATE | NA20805.hp1 | a0048 | a0048c0065 | a0048c0065t0001 | a0048c0065t0001g0071 | 1 | 450 | 0.0022 | -36 | c.324 others(45): Show |
p.Glu others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3369/4331 | 3249/3906 | 1083/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |